AiPD: Autoinhibited Protein Database

Q8N434

Gene name	SVOPL
Protein name	Putative transporter SVOPL
Names	SV2-related protein-like, SVOP-like protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:136306
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-61 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-61 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q8N434

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N434-F1	Predicted				AlphaFoldDB

492 variants for Q8N434

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA369370757 rs1475698235	4	K>*		No	ClinGen gnomAD
rs1584865564 CA369370756	4	K>R		No	ClinGen Ensembl
CA369370735 rs1420454234	7	E>G		No	ClinGen gnomAD
CA167094162 rs866865212	8	P>L		No	ClinGen Ensembl
CA167094178 rs1023816243	8	P>S		No	ClinGen TOPMed gnomAD
rs369004741 COSM3781268 CA369370717	10	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs369004741 CA4504382	10	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA369370701 rs1439020872	13	S>C		No	ClinGen gnomAD
CA369370699 rs1287177295	13	S>T		No	ClinGen gnomAD
COSM1228078 rs758884548 CA4504381	15	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA167094104 rs954996539	15	R>W		No	ClinGen TOPMed gnomAD
rs1037322390 CA167094087	18	S>R		No	ClinGen TOPMed gnomAD
rs897835488 CA167094070	21	T>I		No	ClinGen Ensembl
rs547571881 CA4504379	21	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146127387 CA167094050	22	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4504377 rs146127387	22	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	24	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563136168 CA369370635	24	P>T		No	ClinGen Ensembl
CA369370630 rs1329417281	25	Q>E		No	ClinGen gnomAD
rs1372068523 CA369370621	26	V>F		No	ClinGen TOPMed
rs1323039457 CA369370617	27	K>Q		No	ClinGen gnomAD
TCGA novel	28	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA167094042 rs532536945	28	E>Q		No	ClinGen Ensembl
TCGA novel	30	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA167093448 rs867869492	31	T>M		No	ClinGen TOPMed gnomAD
rs372076204 CA4504366	32	F>L		No	ClinGen ESP ExAC gnomAD
CA369370568 rs1454317538	32	F>S		No	ClinGen gnomAD
CA4504365 rs368164555	34	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3394557 rs866084652 CA167093426	42	G>S	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA369370500 rs1217679035	42	G>V		No	ClinGen gnomAD
CA369370491 CA4504362 rs753217528 COSM3715693	44	G>R	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA369370484 rs1350103884	45	R>C		No	ClinGen TOPMed gnomAD
rs909297466 CA167093384	45	R>H		No	ClinGen TOPMed gnomAD
rs909297466 CA369370483	45	R>P		No	ClinGen TOPMed gnomAD
CA369370486 rs1350103884	45	R>S		No	ClinGen TOPMed gnomAD
rs1362927319 CA369370463	48	I>V		No	ClinGen gnomAD
TCGA novel	49	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371850845 CA369370451	50	L>F		No	ClinGen ESP TOPMed gnomAD
CA167093373 rs371850845	50	L>I		No	ClinGen ESP TOPMed gnomAD
CA369370448 rs1446312723	50	L>R		No	ClinGen TOPMed gnomAD
CA369370431 rs1429541263	53	I>T		No	ClinGen TOPMed
rs963158896 CA167093351	54	M>T		No	ClinGen TOPMed
CA369370426 rs1358999580	54	M>V		No	ClinGen gnomAD
CA369370412 rs1313990044	56	S>G		No	ClinGen gnomAD
CA4504360 rs755567384	57	T>S		No	ClinGen ExAC gnomAD
rs969423480 CA167093344	58	G>R		No	ClinGen TOPMed gnomAD
rs1274130746 CA369380849	60	V>L		No	ClinGen gnomAD
rs1002962239 CA167141539	61	E>G		No	ClinGen Ensembl
rs1190696658 CA369380832	62	A>V		No	ClinGen TOPMed
CA167141533 rs115509159	63	M>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs115509159 CA369380830	63	M>V		No	ClinGen 1000Genomes TOPMed gnomAD
TCGA novel	65	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4504346 rs374457370	66	M>I		No	ClinGen ESP ExAC gnomAD
rs182363397 CA4504345	69	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369380776 rs1373422924	70	V>A		No	ClinGen gnomAD
rs1347146134 CA369380780	70	V>I		No	ClinGen TOPMed
CA369380763 rs1299439576	72	S>F		No	ClinGen TOPMed gnomAD
rs1459494161 CA369380757	73	P>L		No	ClinGen gnomAD
CA369380749 rs772171417	75	I>F		No	ClinGen ExAC gnomAD
rs772171417 CA4504344	75	I>V		No	ClinGen ExAC gnomAD
CA4504343 rs191061647	76	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4504342 rs779169354	76	R>H		No	ClinGen ExAC TOPMed gnomAD
CA369380742 rs779169354	76	R>L		No	ClinGen ExAC TOPMed gnomAD
CA167141512 rs191061647	76	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1409538393 CA369380726	78	E>D		No	ClinGen gnomAD
rs892657586 CA167141507	80	Q>H		No	ClinGen gnomAD
rs867393483 CA167141505	82	E>K		No	ClinGen Ensembl
rs755478364 CA4504341	86	V>G		No	ClinGen ExAC
CA4504340 rs754412551	87	A>T		No	ClinGen ExAC TOPMed gnomAD
CA369380663 rs1226083489	87	A>V		No	ClinGen TOPMed
TCGA novel	90	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4504339 rs558959764	91	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs558959764 CA369380640	91	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1362953877 CA369380073	92	M>V		No	ClinGen TOPMed
rs768917743 CA4504318	93	V>L		No	ClinGen ExAC gnomAD
rs539922291 CA4504317	94	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201925457 CA4504316	96	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201925457 CA4504315	96	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1382597136 CA369380040	97	Y>H		No	ClinGen gnomAD
TCGA novel	97	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4504314 rs750713533	97	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA369380029 rs1391538241	98	M>I		No	ClinGen TOPMed
CA4504313 rs781623113	98	M>L		No	ClinGen ExAC TOPMed gnomAD
CA369380034 rs781623113	98	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1584852860 CA369380023	99	V>G		No	ClinGen Ensembl
CA4504312 rs77230230	99	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369380015 rs763591012	100	F>L		No	ClinGen ExAC gnomAD
rs372787003 CA4504311	100	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs757945832 CA4504309 COSM3831989	101	S>N	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4504308 rs752608992	101	S>R		No	ClinGen ExAC gnomAD
rs757945832 CA369380010	101	S>T		No	ClinGen ExAC gnomAD
rs1226938582 CA369379998	103	L>H		No	ClinGen TOPMed
CA167136827 rs947694517	104	F>S		No	ClinGen Ensembl
CA167136825 rs369022425	106	L>I		No	ClinGen ESP TOPMed
rs762116585 CA4504302	109	D>N		No	ClinGen ExAC gnomAD
CA4504303 rs762116585	109	D>Y		No	ClinGen ExAC gnomAD
rs774751170 CA4504301	111	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4504297 rs372971164	113	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs372971164 CA4504298	113	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4504296 rs770131425	113	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746399904 CA4504295	114	W>R		No	ClinGen ExAC gnomAD
rs981360330 CA167135298	119	I>N		No	ClinGen TOPMed gnomAD
CA369379205 rs981360330	119	I>T		No	ClinGen TOPMed gnomAD
CA4504279 rs188074511	120	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188074511 CA369379186	120	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1470122764 CA369379179	121	F>L		No	ClinGen gnomAD
rs571747746 CA4504277	122	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA167135248 rs867619185	125	A>V		No	ClinGen Ensembl
rs558125843 CA4504276	126	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA167135240 rs931387536	127	F>C		No	ClinGen TOPMed gnomAD
CA369379010 rs1335232597	130	L>P		No	ClinGen TOPMed gnomAD
CA369379008 rs1335232597	130	L>R		No	ClinGen TOPMed gnomAD
rs1374042814 CA369379001	131	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs919941625 CA167135237	132	S>L		No	ClinGen TOPMed gnomAD
rs778141874 CA4504274	134	A>V		No	ClinGen ExAC gnomAD
rs1389723839 CA369378940	135	P>R		No	ClinGen TOPMed
CA167135220 rs757982706	136	S>*		No	ClinGen ExAC TOPMed gnomAD
COSM1086024 CA4504273 rs757982706	136	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1233859885 CA369378901	138	I>V		No	ClinGen TOPMed
rs1301592872 CA369378876	139	W>*		No	ClinGen TOPMed
CA369378880 rs1442007776	139	W>S		No	ClinGen gnomAD
CA167135200 rs1000840633	144	R>Q		No	ClinGen TOPMed gnomAD
rs778275252 CA4504271	144	R>W		No	ClinGen ExAC gnomAD
CA4504269 rs139868586	145	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4504270 rs139868586	145	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA369378753 rs1158592236	146	M>I		No	ClinGen gnomAD
rs1479629321 CA369378770	146	M>L		No	ClinGen TOPMed
rs1211065299 CA369378760	146	M>T		No	ClinGen TOPMed
CA369378721 rs1267447364	148	G>D		No	ClinGen TOPMed
rs907790200 CA167135173	149	C>S		No	ClinGen TOPMed gnomAD
rs536417076 CA167135156	153	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4504266 rs536417076	153	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4504265 rs144093145	154	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA167135148 rs763198503	155	S>L		No	ClinGen TOPMed gnomAD
rs1213419642 CA369378597	157	G>E		No	ClinGen gnomAD
TCGA novel	159	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369378525 rs750442240	160	I>M		No	ClinGen ExAC TOPMed gnomAD
CA369378528 rs1363077681	160	I>T		No	ClinGen gnomAD
CA4504248 rs143129383	161	K>N		No	ClinGen ESP ExAC
rs1584844456 CA369378516	162	T>A		No	ClinGen Ensembl
CA4504246 rs752841132	162	T>I		No	ClinGen ExAC gnomAD
CA4504245 rs557202549	163	E>D		No	ClinGen 1000Genomes ExAC
rs867234381 CA167133070	163	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4504244 rs759710821	164	F>S		No	ClinGen ExAC gnomAD
rs143732886 CA4504241	166	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs753890870 CA4504242	166	P>S		No	ClinGen ExAC gnomAD
CA4504240 rs537537354	167	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs138174501 CA4504239	167	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138174501 CA4504238	167	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1195585666 CA369378420	168	K>R		No	ClinGen gnomAD
rs1195585666 CA369378421	168	K>T		No	ClinGen gnomAD
CA369378413 rs1474163577	169	Y>H		No	ClinGen gnomAD
RCV000960041 CA4504236 rs117871806	170	R>*		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs768285123 CA4504235	170	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4504234 rs535345971	171	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1249759514 CA369378384	171	G>V		No	ClinGen gnomAD
rs1563123739 CA369378377	172	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA4504233 rs566342063	173	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1204023361 CA369378367	173	M>V		No	ClinGen gnomAD
rs111910727 CA167133007	174	L>*		No	ClinGen Ensembl
rs1584844233 CA369378349	174	L>F		No	ClinGen Ensembl
rs769493819 CA4504231	174	L>I		No	ClinGen ExAC gnomAD
CA167133000 rs952172037	175	P>L		No	ClinGen TOPMed gnomAD
CA369378339 rs952172037	175	P>R		No	ClinGen TOPMed gnomAD
rs1584844204 CA369378318	177	S>C		No	ClinGen Ensembl
rs758196344 CA4504203	182	L>F		No	ClinGen ExAC TOPMed gnomAD
CA369377888 rs1191966094	182	L>P		No	ClinGen gnomAD
rs145183727 CA4504201	183	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4504202 rs145183727	183	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	184	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs896443940 CA167127192	185	S>P		No	ClinGen Ensembl
CA4504196 rs752070652	189	I>T		No	ClinGen ExAC gnomAD
CA369377814 rs1353794167	190	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA369377807 rs1563118396	190	G>V		No	ClinGen Ensembl
rs764485931 CA4504195	191	L>F		No	ClinGen ExAC gnomAD
TCGA novel	192	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867062904 CA167127174	194	V>A		No	ClinGen Ensembl
CA369377764 rs1265226863	195	I>V		No	ClinGen TOPMed
CA4504194 rs370834594	196	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4504193 rs776018908	196	I>T		No	ClinGen ExAC gnomAD
rs370834594 CA369377755	196	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4504192 rs764944841	197	P>S		No	ClinGen ExAC gnomAD
CA4504191 rs759266512	198	T>I		No	ClinGen ExAC gnomAD
CA369377741 rs1584832158	198	T>P		No	ClinGen Ensembl
CA4504187 rs140498059	200	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000916713 CA4504188 rs150440671	200	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA167127114 rs150440671	200	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1171857928 CA369377706	201	W>S		No	ClinGen gnomAD
CA4504186 rs771883305 COSM204780	202	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4504185 rs151301864 COSM1086021 COSM1086020	202	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA369377669 rs1427079708	203	W>C		No	ClinGen gnomAD
rs746144766 CA4504183	204	L>F		No	ClinGen ExAC TOPMed gnomAD
rs746144766 CA4504182	204	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4504181 rs143755972	206	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs921593107 CA167127050	206	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM1086018 CA4504179 rs752083316 COSM1086019	207	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1256191551 CA369377622	208	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs918218490 CA167127032	208	A>V		No	ClinGen Ensembl
rs753044765 CA4504176	209	S>F		No	ClinGen ExAC gnomAD
CA4504175 rs759250556	211	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759250556 CA4504174	211	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs765885083 CA4504172	212	G>D		No	ClinGen ExAC gnomAD
CA369377554 rs765885083	212	G>V		No	ClinGen ExAC gnomAD
CA369377536 rs1232768029	214	I>V		No	ClinGen TOPMed
CA369377511 rs1341196853	215	L>F		No	ClinGen TOPMed
rs760156451 CA4504170	215	L>P		No	ClinGen ExAC gnomAD
rs761749204 CA4504167	217	V>M		No	ClinGen ExAC TOPMed gnomAD
rs771797276 CA167126904	218	A>T		No	ClinGen Ensembl
rs970486219 CA167126903	218	A>V		No	ClinGen TOPMed
rs1267473835 CA369377440	220	K>M		No	ClinGen TOPMed
CA369376586 rs1584825150	221	F>L		No	ClinGen Ensembl
rs146627246 CA167122325	222	I>F		No	ClinGen ESP TOPMed gnomAD
CA4504143 rs770991935	223	P>S		No	ClinGen ExAC gnomAD
rs1468132025 CA369376557	224	E>Q		No	ClinGen gnomAD
CA4504141 rs79848686	227	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs144481050 CA4504139	227	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4504138 rs144481050	227	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000885194 rs79848686 CA4504140	227	R>W		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs780476507 CA4504135	229	N>S		No	ClinGen ExAC TOPMed gnomAD
CA167122246 COSM745469 rs868320054	231	S>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs755704916 CA4504134	235	T>I		No	ClinGen ExAC gnomAD
rs1584825043 CA369376448	235	T>P		No	ClinGen Ensembl
rs139128450 CA369376436	236	R>L		No	ClinGen ESP TOPMed gnomAD
rs139128450 CA167122236	236	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs377061261 CA4504132	236	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA4504131 rs756807498	238	A>D		No	ClinGen ExAC TOPMed gnomAD
CA4504130 rs556471157	240	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs763979154 CA4504129	243	E>G		No	ClinGen ExAC TOPMed gnomAD
rs372787460 CA4504128	244	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4504127 rs369684225	244	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs144436781 CA4504125	245	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1392904116 CA369376339	247	K>T		No	ClinGen gnomAD
CA4504122 rs748192142	248	M>I		No	ClinGen ExAC TOPMed gnomAD
CA369376324 rs1256014589	248	M>K		No	ClinGen TOPMed gnomAD
rs1256014589 CA369376326	248	M>T		No	ClinGen TOPMed gnomAD
rs772258226 CA4504123	248	M>V		No	ClinGen ExAC gnomAD
CA4504121 rs200197206	250	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4504120 rs149283565	250	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs149283565 CA369376302	250	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4504118 rs780273701	251	S>L		No	ClinGen ExAC TOPMed gnomAD
CA167122130 rs201267287	252	V>A		No	ClinGen 1000Genomes
rs745484937 CA4504116	252	V>L		No	ClinGen ExAC
CA167122106 rs756933873 CA4504114	253	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs1207703482 CA369376273	253	M>T		No	ClinGen gnomAD
CA4504112 rs139491189	254	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4504113 rs571787686	254	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA369376247 rs1403372363	256	G>E		No	ClinGen TOPMed
CA4504111 rs758255667	256	G>R		No	ClinGen ExAC gnomAD
CA369376245 rs1452459549	257	K>E		No	ClinGen TOPMed
CA4504109 rs752747718	259	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1057288113 CA167122035	261	P>T		No	ClinGen TOPMed gnomAD
TCGA novel	262	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4504107 rs143599875	262	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs767811732 CA4504105	263	L>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1664412 CA369373753 rs1584803532 COSM1664411	266	R>G	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs760769082	266	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4504078 rs572303567	266	R>K		No	ClinGen 1000Genomes ExAC
rs775462311 CA4504076	267	G>*		No	ClinGen ExAC
rs775462311 CA369373727	267	G>R		No	ClinGen ExAC
CA4504074 rs200424492	268	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1036752409 CA167106540	269	F>S		No	ClinGen TOPMed
TCGA novel	273	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369373612 rs1311320251	274	D>H		No	ClinGen gnomAD
rs771352943 CA4504071	275	A>D		No	ClinGen ExAC gnomAD
rs771352943 CA369373587	275	A>V		No	ClinGen ExAC gnomAD
rs199975503 CA4504070	278	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4504068 rs147440457	279	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs149009334 CA4504069	279	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA369373516 rs1459774027	281	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA369373513 rs1367842955	281	T>K		No	ClinGen gnomAD
rs779994604 CA4504062	288	W>R		No	ClinGen ExAC gnomAD
rs756127766 CA167104924	291	I>M		No	ClinGen ExAC TOPMed gnomAD
CA369373293 rs1330237338	292	S>T		No	ClinGen gnomAD
rs923676620 CA167104918	294	A>V		No	ClinGen TOPMed gnomAD
CA4504039 rs745619788	295	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA369373275 rs1431598729	295	Y>N		No	ClinGen TOPMed
rs1297915999 CA369373263	296	Y>C		No	ClinGen gnomAD
rs780872596 CA4504038	297	G>V		No	ClinGen ExAC TOPMed gnomAD
CA369373258 rs1297554380	297	G>W		No	ClinGen gnomAD
CA4504037 rs374304743	299	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA369373237 rs142884011	301	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4504035 rs142884011	301	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1012127080 CA167104899	304	E>*		No	ClinGen TOPMed
rs200107850 CA4504032	304	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM335930 COSM335929 CA4504031 rs201267104	305	L>M	lung autonomic_ganglia Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1198305579 CA369373192	307	E>D		No	ClinGen gnomAD
rs1264721104 CA369373202	307	E>Q		No	ClinGen gnomAD
rs761526967 CA4504028	308	R>Q		No	ClinGen ExAC gnomAD
rs767816908 COSM3785012 COSM3785011 CA4504029	308	R>W	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1563101650 CA369373163	309	D>E		No	ClinGen Ensembl
CA369373180 rs1235109772	309	D>H		No	ClinGen gnomAD
TCGA novel CA4504026 rs768439762	310	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA4504027 rs773936321	310	L>V		No	ClinGen ExAC gnomAD
rs748743747 CA4504025	311	V>G		No	ClinGen ExAC gnomAD
CA369373152 rs1400597184	311	V>I		No	ClinGen gnomAD
CA4504024 rs775174065	312	C>F		No	ClinGen ExAC gnomAD
CA369373124 rs1304860405	313	G>A		No	ClinGen gnomAD
CA167104839 rs143632161	317	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA167104810 rs781057734	318	S>F		No	ClinGen Ensembl
CA4504019 rs201768743	319	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs564673614 CA4504021	319	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs201768743 COSM204778 CA4504020	319	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4504017 rs755195241	320	V>A		No	ClinGen ExAC gnomAD
CA369373060 rs1196051333	320	V>L		No	ClinGen TOPMed
CA4504015 rs780126595	321	V>A		No	ClinGen ExAC gnomAD
rs753872186 CA4504016	321	V>M		No	ClinGen ExAC TOPMed gnomAD
CA4504014 rs576140372	322	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750930275 CA4504012	323	T>N		No	ClinGen ExAC gnomAD
COSM1548577 CA167104776 rs915479022 COSM1548576	324	G>A	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4504011 CA4504009 rs200115398	324	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs200115398 CA4504010	324	G>W		No	ClinGen ExAC TOPMed gnomAD
CA167104733 rs79662895	326	D>G		No	ClinGen Ensembl
rs769304357	326	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs562489887 CA4504007	326	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369373009 rs562489887	326	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs562489887 CA4504008	326	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775119156 CA369372993	327	S>*		No	ClinGen ExAC TOPMed gnomAD
CA4504004 rs775119156	327	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1389175518 CA369372967	329	E>D		No	ClinGen TOPMed gnomAD
CA4504001 rs573664958	329	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs200942722 CA4504002 RCV000976849	329	E>K		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP
CA369372940 rs1218942507	331	Q>H		No	ClinGen TOPMed
CA369372946 rs1163226113	331	Q>R		No	ClinGen gnomAD
rs1287006865 CA369372939	332	S>C		No	ClinGen TOPMed
CA369372934 rs1472173621	332	S>N		No	ClinGen gnomAD
CA4503999 rs770914376 CA369372929	332	S>R		No	ClinGen ExAC gnomAD
rs1563101402 CA369372923	333	P>S		No	ClinGen Ensembl
CA578621943 rs1437442557	335	Y>*		No	ClinGen TOPMed gnomAD
CA167104682 rs148958241	335	Y>H		No	ClinGen ESP
CA4503998 rs376935763	335	Y>S		No	ClinGen ESP ExAC gnomAD
CA369372875 rs1237301858	337	H>P		No	ClinGen TOPMed gnomAD
rs1191323220 CA369372877	337	H>Y		No	ClinGen TOPMed
rs768813951 CA4503996	338	M>I		No	ClinGen ExAC TOPMed gnomAD
CA4503997 rs777572623	338	M>V		No	ClinGen ExAC gnomAD
CA4503995 rs749556971	341	P>L		No	ClinGen ExAC gnomAD
CA4503993 rs756210473	342	S>C		No	ClinGen ExAC gnomAD
rs780073598 CA4503994	342	S>P		No	ClinGen ExAC TOPMed gnomAD
rs750533712 CA167104637	343	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750533712 CA4503992	343	D>V		No	ClinGen ExAC gnomAD
CA369372801 rs1376465639	344	Y>S		No	ClinGen gnomAD
CA4503990 rs138766521	345	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs373117922 CA4503991	345	R>W		No	ClinGen ESP ExAC gnomAD
CA369372768 rs1359359687	347	M>I		No	ClinGen TOPMed
CA4503989 rs371309648	347	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs115370559 CA4503988	348	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4503987 rs762664059	350	S>G		No	ClinGen ExAC gnomAD
CA4503986 rs752464540	350	S>N		No	ClinGen ExAC gnomAD
CA167104541 rs944134319	351	T>I		No	ClinGen Ensembl
rs374157361 CA4503983	352	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1335814024 CA369372741	352	I>V		No	ClinGen TOPMed
CA4503982 COSM1086017 COSM1086016 rs369769509	353	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1471039414 CA369372729	354	E>*		No	ClinGen gnomAD
CA167104448 rs567399600	355	I>F		No	ClinGen gnomAD
rs760681001 CA4503980	355	I>T		No	ClinGen ExAC gnomAD
CA167104445 rs778319667	356	A>V		No	ClinGen Ensembl
rs760493974 CA4503962	357	L>S		No	ClinGen ExAC TOPMed gnomAD
CA4503961 rs773196860	362	I>R		No	ClinGen ExAC TOPMed gnomAD
CA369372363 rs1431237323	363	L>P		No	ClinGen TOPMed gnomAD
rs767459770 CA369372365	363	L>V		No	ClinGen ExAC gnomAD
CA369372344 rs1477456716	366	N>S		No	ClinGen TOPMed gnomAD
CA369372339 rs1424371733	367	F>L		No	ClinGen gnomAD
rs761534547 CA4503959	368	L>P		No	ClinGen ExAC gnomAD
CA4503958 rs774165578	369	G>A		No	ClinGen ExAC gnomAD
CA369372328 rs1482346875	369	G>R		No	ClinGen gnomAD
CA4503956 rs771138589	371	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4503957 rs774616578	371	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4503955 rs776544676	373	S>N		No	ClinGen ExAC TOPMed gnomAD
CA369372303 rs1198501382	373	S>R		No	ClinGen gnomAD
rs1225594931 CA369372291	375	S>F		No	ClinGen gnomAD
rs375405026 CA167103732	375	S>P		No	ClinGen ESP TOPMed
CA369372288 rs1249626463	376	I>F		No	ClinGen TOPMed
rs1489516643 CA369372286	376	I>T		No	ClinGen TOPMed
CA369372279 rs1215780201	377	T>N		No	ClinGen gnomAD
CA369372281 rs1298435322	377	T>S		No	ClinGen gnomAD
CA4503953 rs747506960	378	M>T		No	ClinGen ExAC gnomAD
rs1452932712 CA369372254	381	T>A		No	ClinGen TOPMed gnomAD
rs758979003 CA4503951	381	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4503949 rs577793073	382	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4503947 rs753564328	384	F>L		No	ClinGen ExAC TOPMed gnomAD
rs2305816 CA4503945 VAR_033188	385	F>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4503946 rs2305816	385	F>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4503944 rs749944469	387	L>V		No	ClinGen ExAC gnomAD
CA369372192 rs1395771522	391	C>G		No	ClinGen gnomAD
TCGA novel	391	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs923141581 CA167103692	392	T>A		No	ClinGen TOPMed gnomAD
rs1031761950 CA167103683	393	S>L		No	ClinGen Ensembl
CA4503942 rs761763669	394	S>I		No	ClinGen ExAC gnomAD
CA167102794 rs1014594764	395	A>T		No	ClinGen TOPMed
rs1400115826 CA369372149	396	G>D		No	ClinGen TOPMed
CA369372150 rs144549446	396	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4503919 COSM3411630 rs144549446 COSM3411631	396	G>S	Variant assessed as Somatic; 4.623e-05 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1454505919 CA369372137	398	I>T		No	ClinGen gnomAD
rs766668290 CA4503918	398	I>V		No	ClinGen ExAC gnomAD
CA369372132 rs1365869981	399	G>V		No	ClinGen gnomAD
CA4503917 rs760998656	401	L>F		No	ClinGen ExAC gnomAD
rs1426450160 CA369372115	402	F>L		No	ClinGen gnomAD
CA369372104 rs1411775857	403	M>R		No	ClinGen TOPMed
CA4503916 rs773402162	403	M>V		No	ClinGen ExAC gnomAD
rs1329775317 CA369372090	405	R>S		No	ClinGen TOPMed
CA369372079 rs1215360433	407	L>P		No	ClinGen gnomAD
CA167102730 rs987781266	407	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	408	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762402940 CA4503914	411	N>K		No	ClinGen ExAC gnomAD
CA4503913 rs774976960	412	F>C		No	ClinGen ExAC gnomAD
CA369372047 rs151143836	412	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345933618 CA369372033	414	T>I		No	ClinGen TOPMed
rs113925266 CA167102694	415	V>A		No	ClinGen Ensembl
CA4503909 rs745563010	415	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4503908 rs745563010	415	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1282875646 CA369372026	416	Y>C		No	ClinGen gnomAD
CA4503906 rs756819868	416	Y>H		No	ClinGen ExAC gnomAD
rs751045302 CA4503905	417	I>S		No	ClinGen ExAC gnomAD
CA167102685 rs1029359101	418	Y>F		No	ClinGen Ensembl
CA4503904 rs142039722	418	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1563099453 CA369372008	419	T>I		No	ClinGen Ensembl
rs758298420 CA4503903	419	T>P		No	ClinGen ExAC TOPMed gnomAD
CA369371999 rs1224281902	421	E>K		No	ClinGen TOPMed
rs1456305576 CA369371331	422	V>I		No	ClinGen gnomAD
rs763514872 CA4503877	423	Y>C		No	ClinGen ExAC gnomAD
COSM3411627 COSM3411626 rs765749268 CA369371302	426	T>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765749268 CA4503875	426	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1383835041 CA369371301	427	M>V		No	ClinGen gnomAD
CA4503872 rs564267291	428	R>C		No	ClinGen ExAC TOPMed gnomAD
CA369371291 rs1287870402	428	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4503873 rs564267291	428	R>S		No	ClinGen ExAC TOPMed gnomAD
CA4503870 rs202159228	429	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA4503871 COSM1228077 COSM1228076 rs746689175	429	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs78198391 CA167097389	430	L>W		No	ClinGen Ensembl
CA4503869 rs142327276	431	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA167097371 rs185851913	433	G>A		No	ClinGen 1000Genomes
CA167097370 COSM1673583 COSM1673584 rs185851913	433	G>E	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA
CA4503867 rs61749304	436	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369371236 rs1160973200	437	S>F		No	ClinGen gnomAD
rs749046277 CA4503865	439	C>R		No	ClinGen ExAC gnomAD
rs780045890 CA4503864	440	R>C	Variant assessed as Somatic; 4.63e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4503862 rs139707660	440	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369371221 rs139707660	440	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4503863 rs139707660	440	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199794073 CA4503860	441	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs199794073 CA4503861	441	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439525101 CA369371214	442	G>R		No	ClinGen gnomAD
rs1265302709 CA369371206	443	A>E		No	ClinGen gnomAD
TCGA novel	443	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4503858 rs765694338	444	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1360312270 CA369371194	445	V>L		No	ClinGen gnomAD
rs369819851 CA167097307	446	A>T		No	ClinGen ESP TOPMed gnomAD
rs760056897 CA4503857 COSM3785010 COSM3785009	446	A>V	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA369371167 rs1563094590	449	I>M		No	ClinGen Ensembl
rs766693719 CA4503855	449	I>T		No	ClinGen ExAC
CA167097292 rs556712711	449	I>V		No	ClinGen Ensembl
rs1280533615 CA369371161	450	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs962732795 CA167097258	451	Q>P		No	ClinGen TOPMed gnomAD
CA4503821 rs142898787	454	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs922861847 CA167115622	456	A>T		No	ClinGen Ensembl
CA4503820 rs748407679	458	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4503818 rs200673028	461	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4503816 rs780353489	462	L>P		No	ClinGen ExAC gnomAD
CA369370082 rs1177092386	465	F>S		No	ClinGen gnomAD
CA369370077 rs1584760576	466	S>P		No	ClinGen Ensembl
CA369370062 rs1356727788	468	V>A		No	ClinGen gnomAD
CA4503811 rs767968195	469	C>Y		No	ClinGen ExAC
rs1246275272 CA369370049	470	V>A		No	ClinGen gnomAD
rs535241944 CA167115514	471	V>A		No	ClinGen Ensembl
rs1263333603 CA369370041	472	C>R		No	ClinGen TOPMed
CA369370039 rs1238835353	472	C>Y		No	ClinGen Ensembl
rs776814871 COSM1086007 COSM1086006 CA4503808	473	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA167115478 rs111250132	474	I>V		No	ClinGen Ensembl
CA167115454 rs979184809	475	S>F		No	ClinGen Ensembl
CA4503807 rs762486712	476	A>V		No	ClinGen ExAC gnomAD
CA167115447 rs968240047	477	F>V		No	ClinGen Ensembl
CA4503806 rs775097536	478	T>I		No	ClinGen ExAC TOPMed gnomAD
rs775097536 CA369370003	478	T>S		No	ClinGen ExAC TOPMed gnomAD
CA167115445 rs979230692	479	L>F		No	ClinGen TOPMed gnomAD
CA369370000 rs979230692	479	L>V		No	ClinGen TOPMed gnomAD
rs141398137 CA4503804	481	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA369369983 rs770776844	482	E>*		No	ClinGen ExAC TOPMed gnomAD
CA369369979 rs1348172091	482	E>D		No	ClinGen TOPMed
COSM1086005 COSM204777 rs770776844 CA4503802	482	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4503800 rs748356494	483	T>I		No	ClinGen ExAC TOPMed gnomAD
CA4503799 rs774498176	485	G>R		No	ClinGen ExAC TOPMed gnomAD
COSM1267069 CA369369958 rs145071968 COSM1267068	486	R>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4503797 rs145071968	486	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4503796 rs145071968	486	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs111821973 CA4503798	486	R>W		No	ClinGen ExAC TOPMed gnomAD
CA369369949 rs1267562035	488	L>F		No	ClinGen gnomAD
CA4503792 TCGA novel rs757641771	489	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed
rs1584760393 CA369369945	489	Q>K		No	ClinGen Ensembl
rs781683701 CA4503793	489	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs141292389 CA4503773	490	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1172954682 CA369369915	491	I>M		No	ClinGen TOPMed
CA369369913 rs1382994324	492	K>E		No	ClinGen gnomAD
CA369369905 rs1364474145	493	K>R		No	ClinGen gnomAD

No associated diseases with Q8N434

2 regional properties for Q8N434

Type	Name	Position	InterPro Accession
domain	Bicarbonate transporter-like, transmembrane domain	480 - 988	IPR011531
domain	Band 3 cytoplasmic domain	146 - 433	IPR013769

Functions

		Description
EC Number
Subcellular Localization	Membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
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.

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.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q1JP63	SVOP	Synaptic vesicle 2-related protein	Bos taurus (Bovine)	PR
Q9H015	SLC22A4	Solute carrier family 22 member 4	Homo sapiens (Human)	PR
A6NKX4	SLC22A31	Putative solute carrier family 22 member 31	Homo sapiens (Human)	PR
Q8N4V2	SVOP	Synaptic vesicle 2-related protein	Homo sapiens (Human)	PR
Q8BFT9	Svop	Synaptic vesicle 2-related protein	Mus musculus (Mouse)	PR
Q6PDF3	Svopl	Putative transporter SVOPL	Mus musculus (Mouse)	PR
Q9Z2I7	Svop	Synaptic vesicle 2-related protein	Rattus norvegicus (Rat)	PR
Q1LVS8	svopl	Putative transporter SVOPL	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MATKPTEPVT	ILSLRKLSLG	TAEPQVKEPK	TFTVEDAVET	IGFGRFHIAL	FLIMGSTGVV
70	80	90	100	110	120
EAMEIMLIAV	VSPVIRCEWQ	LENWQVALVT	TMVFFGYMVF	SILFGLLADR	YGRWKILLIS
130	140	150	160	170	180
FLWGAYFSLL	TSFAPSYIWF	VFLRTMVGCG	VSGHSQGLII	KTEFLPTKYR	GYMLPLSQVF
190	200	210	220	230	240
WLAGSLLIIG	LASVIIPTIG	WRWLIRVASI	PGIILIVAFK	FIPESARFNV	STGNTRAALA
250	260	270	280	290	300
TLERVAKMNR	SVMPEGKLVE	PVLEKRGRFA	DLLDAKYLRT	TLQIWVIWLG	ISFAYYGVIL
310	320	330	340	350	360
ASAELLERDL	VCGSKSDSAV	VVTGGDSGES	QSPCYCHMFA	PSDYRTMIIS	TIGEIALNPL
370	380	390	400	410	420
NILGINFLGR	RLSLSITMGC	TALFFLLLNI	CTSSAGLIGF	LFMLRALVAA	NFNTVYIYTA
430	440	450	460	470	480
EVYPTTMRAL	GMGTSGSLCR	IGAMVAPFIS	QVLMSASILG	ALCLFSSVCV	VCAISAFTLP
490
IETKGRALQQ	IK