AiPD: Autoinhibited Protein Database

Q2Y0W8

Gene name	SLC4A8
Protein name	Electroneutral sodium bicarbonate exchanger 1
Names	Electroneutral Na(+)-driven Cl-HCO3 exchanger, Solute carrier family 4 member 8, k-NBC3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9498
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

35-118 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

35-118 (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

2 structures for Q2Y0W8

Entry ID	Method	Resolution	Chain	Position	Source
5JHO	X-ray	280 A	A/B	54-397	PDB
AF-Q2Y0W8-F1	Predicted				AlphaFoldDB

578 variants for Q2Y0W8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1437078411 CA384869775	2	P>L		No	ClinGen gnomAD
rs1343713616 CA384869780	3	A>D		No	ClinGen gnomAD
CA384869781 rs1343713616	3	A>G		No	ClinGen gnomAD
rs1343713616 CA384869782	3	A>V		No	ClinGen gnomAD
rs1350784210 CA384869788	4	A>V		No	ClinGen gnomAD
CA236284046 rs949068309	5	G>R		No	ClinGen TOPMed
CA384869808 CA236284072 rs569493904	7	N>K		No	ClinGen 1000Genomes TOPMed gnomAD
rs538107228 CA6570205	8	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384869809 rs538107228	8	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6570206 rs555252532	9	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs534359885 CA384869817	9	P>S		No	ClinGen TOPMed
rs534359885 CA236284083	9	P>T		No	ClinGen TOPMed
rs1283971149 CA384869836	12	V>F		No	ClinGen gnomAD
rs1322753316 CA384869853	14	S>R		No	ClinGen gnomAD
CA6570227 rs765050941	17	R>G		No	ClinGen ExAC gnomAD
CA384869896 rs1273478899	19	D>N		No	ClinGen TOPMed
TCGA novel	26	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1307235113 CA384869948	26	Q>R		No	ClinGen TOPMed
CA236292487 rs914426858	30	S>G		No	ClinGen Ensembl
rs758292019 CA384869983	32	I>L		No	ClinGen ExAC gnomAD
CA6570229 rs758292019	32	I>V		No	ClinGen ExAC gnomAD
rs1241061414 CA384869989	33	L>I		No	ClinGen gnomAD
TCGA novel	35	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384870022 rs144198393	37	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6570231 rs144198393	37	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6570233 rs780060742	39	K>R		No	ClinGen ExAC TOPMed gnomAD
rs936218655 CA236298344	48	L>P		No	ClinGen TOPMed gnomAD
CA6570249 rs373347148 COSM3700288	49	Y>C	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs985125932 CA236298348	50	V>M		No	ClinGen TOPMed
TCGA novel	51	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756361982 CA6570250	53	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1382178449 CA384870136	53	R>W		No	ClinGen gnomAD
rs780147246 CA6570251	54	M>I		No	ClinGen ExAC gnomAD
rs1565785075 CA384870142	54	M>L		No	ClinGen Ensembl
CA6570252 rs753910159	55	P>A		No	ClinGen ExAC gnomAD
CA6570253 rs755104781	55	P>L		No	ClinGen ExAC gnomAD
CA6570256 rs772364641	58	R>P		No	ClinGen ExAC gnomAD
rs778168243 CA6570257	61	H>Q		No	ClinGen ExAC gnomAD
CA6570259 rs746633444	62	R>G		No	ClinGen ExAC TOPMed gnomAD
CA384870191 rs1268056140	62	R>Q		No	ClinGen gnomAD
rs746633444 CA6570258	62	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	64	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776369237 CA236298407	65	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6570260 rs776369237	65	R>G		No	ClinGen ExAC TOPMed gnomAD
rs776369237 CA236298406	65	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6570261 rs745332713	66	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1473058942 CA384870217	66	T>I		No	ClinGen gnomAD
rs745332713 CA384870213	66	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1362435680 CA384870221	67	H>R		No	ClinGen gnomAD
CA6570262 rs769353953	67	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA6570263 rs775513957	68	G>S		No	ClinGen ExAC TOPMed gnomAD
CA384870248 rs1368067868	71	H>Y		No	ClinGen gnomAD
CA384870254 rs1159918133	72	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1423260738 CA384870256	72	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA384870255 rs1159918133	72	R>W		No	ClinGen TOPMed
rs1300784596 CA384870267	74	R>*		No	ClinGen gnomAD
rs1344274733 CA384870278	76	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6570265 TCGA novel rs763980383	82	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA384870326 rs1265788821	83	G>A		No	ClinGen TOPMed gnomAD
CA384870325 rs1265788821	83	G>E		No	ClinGen TOPMed gnomAD
CA6570267 CA384870323 rs760925106	83	G>R		No	ClinGen ExAC TOPMed gnomAD
CA384870324 rs760925106	83	G>W		No	ClinGen ExAC TOPMed gnomAD
CA236298453 rs772160443	84	E>*		No	ClinGen ExAC gnomAD
CA236298455 rs867662974	84	E>G		No	ClinGen gnomAD
rs772160443 CA6570269	84	E>K		No	ClinGen ExAC gnomAD
TCGA novel	84	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384870330 rs867662974	84	E>V		No	ClinGen gnomAD
CA384870333 rs1291160853	85	E>K		No	ClinGen gnomAD
TCGA novel	86	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754944375 CA6570270	88	E>D		No	ClinGen ExAC TOPMed gnomAD
CA384870359 rs1565785438	89	A>T		No	ClinGen Ensembl
CA384870370 rs1179173331	91	A>T		No	ClinGen gnomAD
rs1017308904	92	H>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA6570271 rs765313348	93	D>N		No	ClinGen ExAC gnomAD
rs1391388882 CA384870420	96	S>F		No	ClinGen gnomAD
CA6570279 rs769176782	98	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	103	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749210596 CA6570281 COSM1152534	106	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1445076939 CA384870497	108	D>Y		No	ClinGen TOPMed
CA384870525 rs1389476164	111	H>L		No	ClinGen TOPMed
rs774448755 CA6570283	112	V>M		No	ClinGen ExAC gnomAD
CA384870548 rs1293555738	115	E>K		No	ClinGen gnomAD
rs151198919 CA236298866	117	F>L		No	ClinGen ESP
rs1449453473 CA384870626	126	K>Q		No	ClinGen TOPMed
rs759859146 CA6570287	129	E>D		No	ClinGen ExAC gnomAD
rs765296904 CA6570288	131	A>T		No	ClinGen ExAC gnomAD
rs140280036 CA6570289	133	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	133	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs182381219 CA6570290	136	T>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	144	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775720798 CA6570306	146	V>A		No	ClinGen ExAC gnomAD
rs1402300929 CA384870826 COSM3781003	152	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1156655689 CA384870851	155	K>R		No	ClinGen gnomAD
rs762446341 CA6570310	158	V>L		No	ClinGen ExAC gnomAD
rs1418725758 CA384870879	159	A>E		No	ClinGen TOPMed
TCGA novel	170	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs536361168 CA6570311	171	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA384870964 rs1184247135	172	C>Y		No	ClinGen TOPMed
rs150330993 CA6570312	174	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA384870992 rs1222479790	176	G>E		No	ClinGen gnomAD
rs779816656 CA6570314	177	T>A		No	ClinGen ExAC gnomAD
CA384871002 rs1197789890	178	V>F		No	ClinGen TOPMed
rs754481991 CA6570316	179	L>H		No	ClinGen ExAC gnomAD
rs778545310 CA6570317	182	M>V		No	ClinGen ExAC gnomAD
rs1489602307 CA384871035	183	H>P		No	ClinGen gnomAD
rs137980302 CA6570318	184	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6570319 rs772087799	184	A>V		No	ClinGen ExAC gnomAD
TCGA novel	185	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470948146 CA384871053	186	S>G		No	ClinGen gnomAD
CA919087236 rs1592209628	186	S>N		No	ClinGen Ensembl
CA384871065 rs1592209657	187	I>M		No	ClinGen Ensembl
CA384871063 rs1565787444	187	I>T		No	ClinGen Ensembl
rs777593474 CA6570320	187	I>V		No	ClinGen ExAC TOPMed gnomAD
CA6570322 rs746766135	188	E>G		No	ClinGen ExAC gnomAD
rs774518933 CA236299296	189	E>*		No	ClinGen TOPMed gnomAD
rs774518933 CA384871073	189	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs770715512 CA6570323	191	S>*		No	ClinGen ExAC gnomAD
rs777698180 CA6570341	194	I>N		No	ClinGen ExAC gnomAD
CA384871131 rs1335121282	196	D>G		No	ClinGen gnomAD
rs1382756126 CA384871136	197	Q>K		No	ClinGen gnomAD
TCGA novel	199	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	202	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs75854414 CA6570343	203	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs181538657 CA236300482	206	D>E		No	ClinGen 1000Genomes
CA236300492 rs781029037	209	R>K		No	ClinGen ExAC gnomAD
rs781029037 CA6570344	209	R>M		No	ClinGen ExAC gnomAD
CA384871232 rs1323785722	210	V>A		No	ClinGen gnomAD
CA6570345 rs749478930	211	K>T		No	ClinGen ExAC gnomAD
TCGA novel	212	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421077864 CA384871248	213	R>Q		No	ClinGen TOPMed
rs774455181 CA6570348	213	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6570349 rs772052695	215	A>V		No	ClinGen ExAC gnomAD
rs1592216243 CA384871296	220	H>R		No	ClinGen Ensembl
CA6570351 rs199687683	221	H>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	223	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236300540 rs867556431	225	E>K		No	ClinGen Ensembl
TCGA novel	226	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236300544 rs866277341	233	P>S		No	ClinGen Ensembl
CA384871396 rs1430309116	234	I>V		No	ClinGen gnomAD
CA6570352 rs766848830	236	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA236300552 rs756642265	236	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA384871411 rs756642265	236	R>L		No	ClinGen TOPMed gnomAD
rs777177388 CA6570353	237	S>P		No	ClinGen ExAC gnomAD
CA6570354 rs759243656	238	F>I		No	ClinGen ExAC
rs764895044 CA6570355	242	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1022885676 CA236300592	247	D>H		No	ClinGen Ensembl
rs1276994317 CA384871519	252	D>G		No	ClinGen gnomAD
rs969005613 CA236300606	252	D>N		No	ClinGen Ensembl
CA6570357 rs757865691	254	H>R		No	ClinGen ExAC TOPMed gnomAD
CA6570368 rs747488820	255	G>D		No	ClinGen ExAC gnomAD
CA384871569 rs1281043262	258	V>M		No	ClinGen TOPMed gnomAD
rs1348498693 CA384871580	259	S>F		No	ClinGen gnomAD
rs1305022315 CA384871586	260	P>L		No	ClinGen TOPMed
rs1292608550 CA384871606	263	V>A		No	ClinGen gnomAD
rs1372212149 CA384871608	264	P>A		No	ClinGen TOPMed
rs777300070 CA6570370	265	T>I		No	ClinGen ExAC gnomAD
CA6570371 rs759877594	266	T>I		No	ClinGen ExAC gnomAD
rs1267008791 CA384871655	271	K>R		No	ClinGen gnomAD
CA236301177 rs954026921	273	G>R		No	ClinGen Ensembl
rs1006703335 CA236301181	273	G>V		No	ClinGen Ensembl
CA384871688 rs1440533691	276	C>Y		No	ClinGen TOPMed
CA384871701 rs1419869295	278	H>N		No	ClinGen gnomAD
TCGA novel	278	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765533534 CA6570372	279	S>R		No	ClinGen ExAC TOPMed gnomAD
CA384871720 rs1362381815	280	P>L		No	ClinGen gnomAD
CA236301196 rs962403814	280	P>T		No	ClinGen Ensembl
CA384871725 rs1439642571	281	V>A		No	ClinGen gnomAD
rs1164704445 CA384871729	282	D>Y		No	ClinGen gnomAD
rs1309096958 CA384871740	283	L>F		No	ClinGen TOPMed
rs1397669996 CA384871774	286	V>A		No	ClinGen gnomAD
rs1299460297 CA384871772	286	V>L		No	ClinGen gnomAD
CA236301800 rs990447	288	L>F		No	ClinGen Ensembl
CA6570383 rs752962120	288	L>P		No	ClinGen ExAC gnomAD
CA384871788 rs1337122194	289	H>N		No	ClinGen gnomAD
CA384871800 rs1488449316	290	F>S		No	ClinGen gnomAD
CA6570384 rs758590731	294	I>L		No	ClinGen ExAC gnomAD
CA384871881 rs1450307041	296	T>S		No	ClinGen gnomAD
rs771166565 CA6570387	299	E>*		No	ClinGen ExAC gnomAD
TCGA novel	299	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	300	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384872007 rs1415298114	307	E>G		No	ClinGen TOPMed
rs1422032356 CA384872003	307	E>Q		No	ClinGen TOPMed
rs770189059 CA6570391	308	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770189059 CA6570390	308	V>M		No	ClinGen ExAC TOPMed gnomAD
rs35966334 CA236301850 VAR_048351	312	D>A		No	ClinGen UniProt Ensembl dbSNP
COSM4150167 CA384872073 rs1460393121	312	D>E	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6570392 rs578147476	313	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA384872076 rs578147476	313	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145771712 COSM1581752 CA6570393	313	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6570394 rs774020349	314	P>L		No	ClinGen ExAC gnomAD
rs372933382 CA6570395	315	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1200153421 CA384872105	316	V>I		No	ClinGen gnomAD
rs867472921 CA384872187	323	P>A		No	ClinGen TOPMed
rs867472921 CA236301863	323	P>S		No	ClinGen TOPMed
CA6570396 rs767032396	325	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6570397 rs201152947	326	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592221066 CA384872218	326	L>V		No	ClinGen Ensembl
CA236301881 rs770351820	327	L>F		No	ClinGen Ensembl
rs1464494621 CA384872244	328	S>L		No	ClinGen gnomAD
rs1302121532 CA384872273	332	E>*		No	ClinGen gnomAD
CA384872310 rs1362563759	335	I>V		No	ClinGen gnomAD
rs1384049476 CA384872346	338	R>K		No	ClinGen gnomAD
CA236302465 rs149212644	345	G>S		No	ClinGen Ensembl
rs866651829 CA236302473	346	P>S		No	ClinGen gnomAD
rs1247797818 CA384872543	347	V>A		No	ClinGen TOPMed
rs942644693 CA236302494	350	G>D		No	ClinGen TOPMed
rs913659110 CA236302499	353	Y>*		No	ClinGen Ensembl
CA6570410 rs749571948	360	M>V		No	ClinGen ExAC gnomAD
CA384872697 rs1365740579	364	M>V		No	ClinGen gnomAD
CA384872711 rs1421684644	365	T>A		No	ClinGen TOPMed gnomAD
CA384872745 rs1592223395	367	E>V		No	ClinGen Ensembl
rs779319551 CA6570431 COSM1586557	372	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs111646658 CA236303271	374	Y>C		No	ClinGen Ensembl
TCGA novel	374	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	375	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6570434 rs573514752	378	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA236303289 rs995871180	379	R>*		No	ClinGen Ensembl
CA6570435 rs746462255	379	R>Q		No	ClinGen ExAC gnomAD
CA384872994 rs770481073	380	D>G		No	ClinGen ExAC TOPMed gnomAD
CA6570436 rs770481073	380	D>V		No	ClinGen ExAC TOPMed gnomAD
rs776418631 CA6570437	381	D>G		No	ClinGen ExAC gnomAD
CA384873033 rs1162249302	383	L>P		No	ClinGen TOPMed
CA6570439 rs765091987 COSM1133399	384	A>V	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1210863940 CA384873069	386	I>M		No	ClinGen gnomAD
rs1273344073 CA384873146	392	Q>R		No	ClinGen gnomAD
rs1319535373 CA384873201	393	V>L		No	ClinGen gnomAD
rs200938638 CA6570444	394	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA384873241 rs1214305567	400	E>*		No	ClinGen TOPMed
rs866125296 CA236303373	404	S>F		No	ClinGen Ensembl
CA384873314 rs1187171681	410	P>S		No	ClinGen TOPMed gnomAD
rs7308853 CA6570448	412	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384873355 rs1407228940	416	Q>R		No	ClinGen gnomAD
rs368233706 CA6570466	418	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6570468 rs139312848	421	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA6570467 rs560148430	421	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1344258468 CA384873420	424	V>I		No	ClinGen gnomAD
rs1205594711 CA384873431	425	P>L		No	ClinGen gnomAD
rs1487388109 CA384873450	428	N>S		No	ClinGen gnomAD
TCGA novel	430	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6570471 rs751141218	431	H>D		No	ClinGen ExAC gnomAD
CA384873471 rs1314710592	431	H>R		No	ClinGen TOPMed
rs756981555 CA6570472	432	I>V		No	ClinGen ExAC gnomAD
CA6570473 rs532478616	433	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA384873492 rs1197243371	434	Q>R		No	ClinGen TOPMed gnomAD
rs745327835 CA6570474	435	E>Q		No	ClinGen ExAC gnomAD
rs1378173309 CA384873507	436	P>L		No	ClinGen TOPMed
CA6570475 rs769430682	436	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6570476 rs780074488	437	H>P		No	ClinGen ExAC TOPMed gnomAD
rs749292247 CA6570477	438	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA384873522 rs1388108854	439	G>C		No	ClinGen TOPMed gnomAD
rs1303442134 CA384873523	439	G>V		No	ClinGen TOPMed
CA6570479 rs774245981	440	H>Q		No	ClinGen ExAC gnomAD
CA6570481 rs771139268	442	G>R		No	ClinGen ExAC gnomAD
rs999735202 CA236304210	443	P>L		No	ClinGen Ensembl
rs1343615222 CA384873564	443	P>S		No	ClinGen TOPMed
TCGA novel	444	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6570482 rs370148012	447	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs759547875 CA6570483	447	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA384873619 rs759547875	447	R>P		No	ClinGen ExAC gnomAD
CA6570485 rs753191375	450	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6570484 rs765315391	450	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768049476 CA6570509	453	G>E		No	ClinGen ExAC gnomAD
rs74525368 CA236279161	453	G>W		No	ClinGen Ensembl
CA6570510 rs750092857	459	I>V		No	ClinGen ExAC gnomAD
CA384871935 rs1459128080	460	K>E		No	ClinGen gnomAD
rs1381233336 CA384871954	461	R>Q		No	ClinGen gnomAD
rs765967983 CA6570512	461	R>W		No	ClinGen ExAC gnomAD
rs753344234 CA6570513	463	A>S		No	ClinGen ExAC gnomAD
CA384871977 rs753344234	463	A>T		No	ClinGen ExAC gnomAD
rs1327280448 CA384871991	464	P>A		No	ClinGen gnomAD
TCGA novel	465	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778843909 CA6570515	465	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6570517 rs758178718	467	W>R		No	ClinGen ExAC gnomAD
rs746066713 CA6570519	469	D>N		No	ClinGen ExAC TOPMed gnomAD
rs769952457 CA6570520	471	R>*		No	ClinGen ExAC gnomAD
CA6570521 rs775605654	471	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6570522 rs117387378	472	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA6570523 rs768628733	474	L>V		No	ClinGen ExAC gnomAD
TCGA novel	477	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236279242 rs935367860	477	Q>R		No	ClinGen TOPMed gnomAD
rs967996815 CA236279260	481	S>A		No	ClinGen Ensembl
TCGA novel	491	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1464444942 CA384872407	495	T>A		No	ClinGen gnomAD
rs267603507 CA236279288	497	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs7294353 CA384872450	499	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	502	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	502	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384872512 rs1296655278	503	A>V		No	ClinGen gnomAD
CA6570531 rs754454029	504	T>A		No	ClinGen ExAC gnomAD
rs374704511 CA6570533	507	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200633626 CA6570534	507	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1233093529 CA384872576	508	I>M		No	ClinGen gnomAD
rs751510502 CA6570557	518	S>F		No	ClinGen ExAC gnomAD
CA6570558 rs772730179	519	M>V		No	ClinGen ExAC TOPMed gnomAD
rs918866738 CA236279747	523	A>T		No	ClinGen Ensembl
rs1238759646 CA384872823	524	Y>C		No	ClinGen gnomAD
rs1156954597 CA384872874	527	F>L		No	ClinGen gnomAD
rs1441427468 CA384872860	527	F>L		No	ClinGen gnomAD
rs754057570 CA6570560	529	G>R		No	ClinGen ExAC
rs748202314 CA6570563	532	L>V		No	ClinGen ExAC gnomAD
CA384872991 rs1379800632	536	G>E		No	ClinGen gnomAD
rs778367889 CA6570565	539	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1228388521 CA384873130 COSM1362344	546	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs776499092 CA6570566	547	I>V		No	ClinGen ExAC TOPMed gnomAD
rs776901122 CA6570568	552	C>R		No	ClinGen ExAC gnomAD
rs1176036873 CA384873570	555	Y>S		No	ClinGen Ensembl
CA384873588 rs1475009542	556	A>G		No	ClinGen gnomAD
rs1592240865 CA384873582	556	A>P		No	ClinGen Ensembl
CA384873648 rs1426042481	561	S>A		No	ClinGen gnomAD
rs1416609242 CA384873669	563	R>P		No	ClinGen gnomAD
CA384873678 rs1565802762	565	C>G		No	ClinGen Ensembl
rs1356868625 CA384873680	565	C>S		No	ClinGen gnomAD
rs1341969294 CA384873687	566	I>T		No	ClinGen gnomAD
CA6570589 rs749002500	566	I>V		No	ClinGen ExAC gnomAD
TCGA novel	570	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384873717 rs773896386	571	A>S		No	ClinGen ExAC TOPMed gnomAD
rs773896386 COSM1362345 CA6570591	571	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs376805893 CA236280545	582	A>T		No	ClinGen ESP
CA6570594 rs773210342	586	V>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	588	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6570596 rs766335883	591	R>C		No	ClinGen ExAC gnomAD
rs752965014 CA384873848	591	R>H		No	ClinGen ExAC TOPMed gnomAD
rs752965014 CA6570597	591	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6570600 rs751647467	596	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6570601 rs757362096	596	A>V		No	ClinGen ExAC TOPMed gnomAD
rs746444864 CA6570603	598	A>G		No	ClinGen ExAC gnomAD
CA6570604 rs756425422	604	I>M		No	ClinGen ExAC gnomAD
CA6570605 rs780433773	607	Y>C		No	ClinGen ExAC gnomAD
rs1565802996 CA384873977	610	I>M		No	ClinGen Ensembl
rs748914438 CA6570606	610	I>T		No	ClinGen ExAC gnomAD
CA384873974 rs1317388716	610	I>V		No	ClinGen gnomAD
rs1240737077 CA384874003	614	I>T		No	ClinGen TOPMed
CA6570608 rs774026429	615	H>D		No	ClinGen ExAC gnomAD
CA384874008 rs1592241199	615	H>P		No	ClinGen Ensembl
CA384874016 rs1592241210	616	L>R		No	ClinGen Ensembl
CA6570610 rs771628144	617	A>S		No	ClinGen ExAC TOPMed gnomAD
CA384874031 rs1592241236	619	T>P		No	ClinGen Ensembl
rs1035887005 CA236280583	620	Y>*		No	ClinGen Ensembl
rs1565803036 CA384874038	620	Y>H		No	ClinGen Ensembl
CA384874040 rs1592241257	620	Y>S		No	ClinGen Ensembl
rs773013832 CA6570611	621	P>T		No	ClinGen ExAC gnomAD
rs1351800777 CA384874073	625	H>N		No	ClinGen TOPMed gnomAD
rs760732812 CA6570612	625	H>P		No	ClinGen ExAC gnomAD
rs1264105336 CA384874079	625	H>Q		No	ClinGen TOPMed
CA384874087 rs1204965915	626	S>R		No	ClinGen TOPMed
rs776617581 CA6570614	628	L>V		No	ClinGen ExAC gnomAD
CA384874104 rs1263085310	629	D>G		No	ClinGen TOPMed
CA6570617 rs751818238	634	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	635	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1382053831 CA384874144	635	Y>H		No	ClinGen TOPMed
CA384874171 rs1379623271	637	R>G		No	ClinGen TOPMed
CA6570628 rs777383834	637	R>K		No	ClinGen ExAC gnomAD
CA384874175 rs1280461024	637	R>S		No	ClinGen TOPMed
COSM1362348 rs1018463245 CA236282355	642	E>D	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs963777742 CA236282359	643	N>K		No	ClinGen gnomAD
CA384874221 rs1473552296	644	P>L		No	ClinGen gnomAD
CA384874229 rs1357871237	645	N>K		No	ClinGen TOPMed
rs571021467 CA6570629	646	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199981470 CA384874246	648	T>A		No	ClinGen ExAC TOPMed gnomAD
rs199981470 CA384874245	648	T>P		No	ClinGen ExAC TOPMed gnomAD
rs199981470 CA6570630	648	T>S		No	ClinGen ExAC TOPMed gnomAD
rs776712804 CA6570631	649	L>V		No	ClinGen ExAC gnomAD
rs767514958 CA6570632	650	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA6570634 rs200725738	655	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs762131432 CA6570635	656	N>S		No	ClinGen ExAC TOPMed gnomAD
rs144293610 CA6570636	658	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA384874322 rs1200893056	659	T>S		No	ClinGen gnomAD
CA6570637 rs750465248	660	A>P		No	ClinGen ExAC gnomAD
CA6570638 rs535943470	662	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs754359699 CA6570640	666	N>K		No	ClinGen ExAC gnomAD
rs1416700874 CA384874385	668	T>S		No	ClinGen gnomAD
CA6570642 rs779405090	670	S>G		No	ClinGen ExAC TOPMed gnomAD
CA6570643 rs752260703	670	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	671	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756822606 CA6570665	674	E>A		No	ClinGen ExAC gnomAD
rs1353993347 CA384874578	675	M>I		No	ClinGen gnomAD
CA384874605 rs1351714122	679	F>L		No	ClinGen TOPMed
CA384874604 rs1351714122	679	F>V		No	ClinGen TOPMed
CA6570667 rs148467747	680	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6570666 rs148467747	680	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6570669 rs376308798	683	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA384874643 rs1193109846	685	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	685	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380933767 CA384874653	686	H>R		No	ClinGen TOPMed gnomAD
rs770970905 CA6570674	695	L>F		No	ClinGen ExAC gnomAD
rs1295615434 CA384874717	696	F>L		No	ClinGen gnomAD
CA6570675 rs776740682	697	W>G		No	ClinGen ExAC gnomAD
rs1302072825 CA384874773	703	F>L		No	ClinGen gnomAD
TCGA novel	704	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384874795 rs200106666	707	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6570678 rs200106666	707	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6570679 rs763361233	708	L>F		No	ClinGen ExAC gnomAD
rs763361233 CA236282920	708	L>I		No	ClinGen ExAC gnomAD
rs1347265624 CA384874822	711	T>I		No	ClinGen gnomAD
rs751221823 CA6570681	712	L>*		No	ClinGen ExAC gnomAD
CA384874826 rs1266936442	712	L>V		No	ClinGen gnomAD
CA6570682 rs757014920	714	T>A		No	ClinGen ExAC gnomAD
rs749911186 CA6570685	714	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749911186 CA6570684	714	T>R		No	ClinGen ExAC TOPMed gnomAD
rs757014920 CA6570683	714	T>S		No	ClinGen ExAC gnomAD
CA6570688 rs754799201	715	F>L		No	ClinGen ExAC gnomAD
CA6570689 rs778720233	716	K>R		No	ClinGen ExAC gnomAD
CA6570690 rs747215206	717	T>A		No	ClinGen ExAC gnomAD
rs200563022 CA6570692	717	T>M		No	ClinGen ExAC gnomAD
CA6570691 rs200563022	717	T>R		No	ClinGen ExAC gnomAD
CA6570694 rs769819673	719	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6570695 rs776058582	719	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs551022292 CA6570741	726	R>C		No	ClinGen ExAC gnomAD
CA6570742 rs749258561	726	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA236290802 rs749258561	726	R>L		No	ClinGen ExAC gnomAD
rs1472414060 CA384875451	727	S>C		No	ClinGen TOPMed
CA6570745 rs748733568	728	M>I		No	ClinGen ExAC gnomAD
CA6570744 rs779548221	728	M>V		No	ClinGen ExAC TOPMed gnomAD
CA236290834 rs985987096	733	A>S		No	ClinGen Ensembl
rs145835611 CA6570746	735	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6570749 rs761124198	738	I>L		No	ClinGen ExAC TOPMed gnomAD
CA6570748 rs761124198	738	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1285036277 CA384875526	739	F>V		No	ClinGen gnomAD
CA236290853 rs1050292095	742	V>M		No	ClinGen TOPMed gnomAD
CA384875559 rs1270374870	743	I>M		No	ClinGen TOPMed
rs1428890529 CA384875580	746	F>C		No	ClinGen gnomAD
rs1206288083 CA384875576	746	F>L		No	ClinGen TOPMed
rs1206288083 CA384875577	746	F>V		No	ClinGen TOPMed
rs147780733 CA6570751 CA384875588	747	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA6570752 rs141104407	748	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs775373461 CA6570753	749	G>R		No	ClinGen ExAC gnomAD
rs1341309800 CA384875605	750	V>G		No	ClinGen TOPMed
CA384875615 rs1433033804	752	S>*		No	ClinGen TOPMed gnomAD
CA384875617 rs1433033804	752	S>L		No	ClinGen TOPMed gnomAD
CA384875658 rs1312661259	759	S>R		No	ClinGen gnomAD
TCGA novel	765	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384875725 rs1565816229	766	D>E		No	ClinGen Ensembl
rs1274432935 CA384875728	767	D>Y		No	ClinGen gnomAD
CA236292623 rs868263140	768	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6570770 rs569499259	768	R>H		No	ClinGen ExAC TOPMed
CA6570771 rs776136982	769	G>R		No	ClinGen ExAC TOPMed gnomAD
CA384875759 rs1231406798	771	I>M		No	ClinGen gnomAD
CA6570772 rs201905031	772	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1485507929 CA384875818	780	W>*		No	ClinGen gnomAD
CA6570775 rs200089075	780	W>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214322368 CA384875837	783	V>L		No	ClinGen gnomAD
rs1254804519 CA384875846	784	I>R		No	ClinGen gnomAD
CA384875855 rs1473969607	786	A>T		No	ClinGen gnomAD
CA6570776 rs763870514	787	I>L		No	ClinGen ExAC TOPMed gnomAD
rs945901518 CA236292692	790	A>P		No	ClinGen gnomAD
rs767411514 CA6570779	794	T>A		No	ClinGen ExAC gnomAD
rs138940118 CA236292730	795	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA6570780 rs754083404	796	L>V		No	ClinGen ExAC gnomAD
CA236292812 rs1045782037	806	V>I		No	ClinGen TOPMed gnomAD
rs1445968063 CA384876034	812	E>G		No	ClinGen TOPMed
rs752785320 CA6570783 COSM3739721	812	E>K	liver [Cosmic]	No	ClinGen cosmic curated ExAC
CA384876042 rs1292383880	813	H>R		No	ClinGen gnomAD
rs758560170 CA6570784	815	L>F		No	ClinGen ExAC gnomAD
rs1225152705 CA384876059	816	K>Q		No	ClinGen TOPMed
TCGA novel	818	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs555029192 CA236293394	818	G>S		No	ClinGen Ensembl
CA6570804 rs751984727	821	Y>*		No	ClinGen ExAC gnomAD
CA6570807 rs556037159	827	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384876144 rs1219116834	827	M>V		No	ClinGen gnomAD
CA384876157 rs1592266524	828	V>G		No	ClinGen Ensembl
rs1190526891 CA384876185	833	G>S		No	ClinGen gnomAD
rs756838880 CA236293438	836	S>F		No	ClinGen Ensembl
rs779667166 CA6570810	837	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1037003302 CA236293455	838	M>L		No	ClinGen gnomAD
rs1037003302 CA384876217	838	M>V		No	ClinGen gnomAD
TCGA novel	839	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384876249 rs1422248459	842	W>*		No	ClinGen gnomAD
TCGA novel	845	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384876274 rs1278200471	846	A>G		No	ClinGen TOPMed
rs768019623 CA6570812	847	T>A		No	ClinGen ExAC gnomAD
rs773287767 CA6570816	854	V>M		No	ClinGen ExAC gnomAD
rs1353391472 CA384876335	856	S>G		No	ClinGen gnomAD
TCGA novel	860	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1592266649 CA384876366	860	E>V		No	ClinGen Ensembl
CA6570818 rs770912828	866	P>L		No	ClinGen ExAC gnomAD
COSM1676960 rs1212900727 CA384876424	869	Q>*	kidney [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1273934687 CA384876471	876	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA6570819 COSM3671108 rs775853298	876	R>Q	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA384876509 rs1213377105	882	G>S		No	ClinGen gnomAD
rs1592266701 CA384876517	883	L>F		No	ClinGen Ensembl
CA384876563 rs1464486168	889	M>I		No	ClinGen TOPMed
TCGA novel	890	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1244366458 CA384876576	891	C>F		No	ClinGen gnomAD
rs767950757 CA6570824	896	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA236293545 rs1048137503	897	A>V		No	ClinGen TOPMed
CA384876618 rs12318785	898	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384876619 rs12318785	898	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_048352 CA6570826 rs12318785	898	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1354410857 CA384876655	901	F>Y		No	ClinGen TOPMed
CA6570836 rs770821198	904	M>V		No	ClinGen ExAC gnomAD
CA6570837 rs577105426	906	V>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	909	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA236296575 rs571443446	914	M>V		No	ClinGen Ensembl
TCGA novel	918	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	919	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs545476059 CA236296615	921	G>R		No	ClinGen 1000Genomes gnomAD
TCGA novel	923	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs554554547 CA236297390	926	D>N		No	ClinGen Ensembl
CA384876839 rs1302713555	927	R>C		No	ClinGen TOPMed
CA236297396 rs894076715	927	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA236297411 rs527836328	933	M>I		No	ClinGen 1000Genomes
rs1392013436 CA384876893	935	A>E		No	ClinGen gnomAD
CA6570854 rs777467763	935	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	941	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781277225 CA6570857	945	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6570859 rs769532170	946	H>L		No	ClinGen ExAC
CA384876984 rs1232069662	948	P>L		No	ClinGen gnomAD
rs771786876 CA6570862	950	R>C		No	ClinGen ExAC TOPMed gnomAD
CA384876992 rs1195842701	950	R>H		No	ClinGen TOPMed gnomAD
rs771786876 CA384876990	950	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1592272732 CA384877012	953	H>P		No	ClinGen Ensembl
CA6570863 rs773227142	954	L>I		No	ClinGen ExAC TOPMed gnomAD
rs773227142 CA384877017	954	L>V		No	ClinGen ExAC TOPMed gnomAD
CA384877026 rs1592272750	955	F>S		No	ClinGen Ensembl
CA384877030 rs1592272753	956	T>P		No	ClinGen Ensembl
CA6570864 rs201525260	958	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA384877063 rs1592272772	961	T>P		No	ClinGen Ensembl
rs759932715 CA6570867	964	V>I		No	ClinGen ExAC TOPMed gnomAD
rs150808530 CA6570868	969	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592272813 CA384877125	970	K>R		No	ClinGen Ensembl
CA6570870 rs758175587	971	A>T		No	ClinGen ExAC gnomAD
rs1462588481 CA384877131	971	A>V		No	ClinGen gnomAD
CA6570871 rs763867725	973	P>S		No	ClinGen ExAC TOPMed gnomAD
CA6570872 rs751043921	974	A>P		No	ClinGen ExAC gnomAD
rs1429269214 CA384877156	976	I>V		No	ClinGen gnomAD
COSM1705613 CA384877189 rs1357818257	980	M>I	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6570873 rs756836981	980	M>V		No	ClinGen ExAC gnomAD
CA384877211 rs1448481811	982	V>I		No	ClinGen TOPMed
CA6570892 rs751311797	990	K>E		No	ClinGen ExAC TOPMed gnomAD
CA6570893 rs761400006	990	K>R		No	ClinGen ExAC gnomAD
rs376260949 CA6570894	992	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370683128 CA6570896	995	C>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370683128 CA6570897	995	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384877308 rs1486067181	996	F>S		No	ClinGen gnomAD
rs753564411 CA6570898	997	S>F		No	ClinGen ExAC gnomAD
rs1464530975 CA384877331	1000	E>K		No	ClinGen gnomAD
rs868184798 CA236298467	1006	D>N		No	ClinGen Ensembl
CA384877422 rs1364804923	1012	K>T		No	ClinGen gnomAD
rs374097671 CA236298474	1022	K>E		No	ClinGen ESP TOPMed gnomAD
TCGA novel	1025	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1025	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6570924 rs530716814	1028	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1369788253 CA384877568	1030	E>G		No	ClinGen gnomAD
TCGA novel	1031	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6570925 rs371182475	1033	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1034	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1376839798 CA384877608	1035	I>M		No	ClinGen gnomAD
rs769118043 CA6570926	1035	I>T		No	ClinGen ExAC TOPMed gnomAD
CA384877625 rs1227820972	1038	D>G		No	ClinGen gnomAD
rs751545626 CA236302649	1042	L>S		No	ClinGen Ensembl
rs373223690 CA236302662	1045	R>K		No	ClinGen ESP TOPMed gnomAD
CA384877686 rs1274163175	1046	K>N		No	ClinGen gnomAD
rs771556127 CA6570930	1051	P>A		No	ClinGen ExAC gnomAD
CA6570929 rs771556127	1051	P>S		No	ClinGen ExAC gnomAD
CA384877719 rs1361803641	1052	G>R		No	ClinGen TOPMed gnomAD
rs1472724842 CA384877745	1055	I>T		No	ClinGen gnomAD
rs1180779641 CA384877749	1056	S>G		No	ClinGen gnomAD
CA236302690 rs867645417	1057	C>F		No	ClinGen TOPMed
CA384877785 rs1442203982	1059	C>Y		No	ClinGen gnomAD
rs1217204674 CA384877790	1060	D>N		No	ClinGen gnomAD
rs1592284976 CA384877809	1062	S>F		No	ClinGen Ensembl
TCGA novel	1063	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384877839 rs1465897163	1066	I>M		No	ClinGen gnomAD
rs1592284997 CA384877838	1066	I>T		No	ClinGen Ensembl
CA384877835 rs1262758163	1066	I>V		No	ClinGen TOPMed
rs1201944385 CA384877845	1067	S>C		No	ClinGen TOPMed
TCGA novel	1073	T>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384877892 rs1301766215	1074	T>A		No	ClinGen TOPMed
rs890406991 CA236303799	1074	T>I		No	ClinGen TOPMed gnomAD
rs1247058821 CA384877896	1075	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1377014980 CA384877908	1076	W>*		No	ClinGen gnomAD
TCGA novel	1077	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749399082 CA6570943	1078	A>V		No	ClinGen ExAC gnomAD
CA6570945 rs556044018	1080	S>I		No	ClinGen 1000Genomes ExAC gnomAD
rs748404086 CA6570946	1082	N>K		No	ClinGen ExAC gnomAD
CA236303860 rs929477540	1085	N>D		No	ClinGen Ensembl
CA384878025 rs1265170326	1091	L>P		No	ClinGen TOPMed
CA384878042 rs1192495309	1093	N>K		No	ClinGen TOPMed

No associated diseases with Q2Y0W8

1 regional properties for Q2Y0W8

Type	Name	Position	InterPro Accession
domain	Bicarbonate transporter-like, transmembrane domain	328 - 818	IPR011531

Functions

		Description
EC Number
Subcellular Localization	Apical cell membrane ; Multi-pass membrane protein Basolateral cell membrane ; Multi-pass membrane protein Cytoplasmic vesicle, secretory vesicle, synaptic vesicle membrane ; Multi-pass membrane protein ;
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

16 GO annotations of cellular component

Name	Definition
asymmetric synapse	A type of synapse occurring between an axon and a dendritic spine or dendritic shaft. Asymmetric synapses, the most abundant synapse type in the central nervous system, involve axons that contain predominantly spherical vesicles and contain a thickened postsynaptic density. Most or all synapses of this type are excitatory.
axon terminus	Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal button is a specialized region of it.
dendrite	A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body.
glial cell projection	A prolongation or process extending from a glial cell.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
hippocampal mossy fiber	Axon of dentate gyrus granule cell projecting to hippocampal area CA3, characterized by expansions (mossy fiber expansions) giving the fibers a mossy appearance. These unmyelinated axons were first described by Ramon y Cajal.
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
neuronal cell body membrane	The plasma membrane of a neuron cell body - excludes the plasma membrane of cell projections such as axons and dendrites.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynapse	The part of a synapse that is part of the presynaptic cell.
presynaptic membrane	A specialized area of membrane of the axon terminal that faces the plasma membrane of the neuron or muscle fiber with which the axon terminal establishes a synaptic junction; many synaptic junctions exhibit structural presynaptic characteristics, such as conical, electron-dense internal protrusions, that distinguish it from the remainder of the axon plasma membrane.
symmetric synapse	A synapse that lacks an electron dense postsynaptic specialization. In vertebtrates, these occur primarily on dendrite shafts and neuronal cell bodies and involve persynapses containing clusters of predominantly flattened or elongated vesicles and are typcially inhibitory.
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.
terminal bouton	Terminal inflated portion of the axon, containing the specialized apparatus necessary to release neurotransmitters. The axon terminus is considered to be the whole region of thickening and the terminal bouton is a specialized region of it.

6 GO annotations of molecular function

Name	Definition
bicarbonate transmembrane transporter activity	Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-.
chloride transmembrane transporter activity	Enables the transfer of chloride ions from one side of a membrane to the other.
sodium ion transmembrane transporter activity	Enables the transfer of sodium ions (Na+) from one side of a membrane to the other.
sodium:bicarbonate symporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + HCO3-(out) = Na+(in) + HCO3-(in).
solute:inorganic anion antiporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion(out) + solute(in) = inorganic anion (in) + solute(out).
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.

10 GO annotations of biological process

Name	Definition
bicarbonate transport	The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
chloride transmembrane transport	The process in which chloride is transported across a membrane.
ion homeostasis	Any process involved in the maintenance of an internal steady state of ions within an organism or cell.
modulation of chemical synaptic transmission	Any process that modulates the frequency or amplitude of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse. Amplitude, in this case, refers to the change in postsynaptic membrane potential due to a single instance of synaptic transmission.
positive regulation of synaptic vesicle exocytosis	Any process that activates or increases the frequency, rate or extent of synaptic vesicle exocytosis.
regulation of intracellular pH	Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion.
regulation of membrane potential	Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane.
sodium ion transmembrane transport	A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.
transport across blood-brain barrier	The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier.

24 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9GL77	SLC4A4	Electrogenic sodium bicarbonate cotransporter 1	Bos taurus (Bovine)	PR
Q32LP4	SLC4A10	Sodium-driven chloride bicarbonate exchanger	Bos taurus (Bovine)	PR
Q8NBS3	SLC4A11	Solute carrier family 4 member 11	Homo sapiens (Human)	PR
Q9Y6R1	SLC4A4	Electrogenic sodium bicarbonate cotransporter 1	Homo sapiens (Human)	PR
Q9Y6M7	SLC4A7	Sodium bicarbonate cotransporter 3	Homo sapiens (Human)	PR
Q6U841	SLC4A10	Sodium-driven chloride bicarbonate exchanger	Homo sapiens (Human)	PR
P02730	SLC4A1	Band 3 anion transport protein	Homo sapiens (Human)	PR
P04920	SLC4A2	Anion exchange protein 2	Homo sapiens (Human)	PR
P04919	Slc4a1	Band 3 anion transport protein	Mus musculus (Mouse)	PR
Q8BTY2	Slc4a7	Sodium bicarbonate cotransporter 3	Mus musculus (Mouse)	PR
P13808	Slc4a2	Anion exchange protein 2	Mus musculus (Mouse)	PR
A2AJN7	Slc4a11	Solute carrier family 4 member 11	Mus musculus (Mouse)	PR
Q5DTL9	Slc4a10	Sodium-driven chloride bicarbonate exchanger	Mus musculus (Mouse)	PR
P16283	Slc4a3	Anion exchange protein 3	Mus musculus (Mouse)	PR
O88343	Slc4a4	Electrogenic sodium bicarbonate cotransporter 1	Mus musculus (Mouse)	PR
Q8JZR6	Slc4a8	Electroneutral sodium bicarbonate exchanger 1	Mus musculus (Mouse)	PR
Q4U116	SLC4A4	Electrogenic sodium bicarbonate cotransporter 1	Sus scrofa (Pig)	PR
Q9JI66	Slc4a4	Electrogenic sodium bicarbonate cotransporter 1	Rattus norvegicus (Rat)	PR
Q9R1N3	Slc4a7	Sodium bicarbonate cotransporter 3	Rattus norvegicus (Rat)	PR
Q80ZA5	Slc4a10	Sodium-driven chloride bicarbonate exchanger	Rattus norvegicus (Rat)	PR
Q3E954	BOR6	Probable boron transporter 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M1P7	BOR2	Probable boron transporter 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SUU1	BOR7	Probable boron transporter 7	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8VYR7	BOR1	Boron transporter 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MPAAGSNEPD	GVLSYQRPDE	EAVVDQGGTS	TILNIHYEKE	ELEGHRTLYV	GVRMPLGRQS
70	80	90	100	110	120
HRHHRTHGQK	HRRRGRGKGA	SQGEEGLEAL	AHDTPSQRVQ	FILGTEEDEE	HVPHELFTEL
130	140	150	160	170	180
DEICMKEGED	AEWKETARWL	KFEEDVEDGG	ERWSKPYVAT	LSLHSLFELR	SCLINGTVLL
190	200	210	220	230	240
DMHANSIEEI	SDLILDQQEL	SSDLNDSMRV	KVREALLKKH	HHQNEKKRNN	LIPIVRSFAE
250	260	270	280	290	300
VGKKQSDPHL	MDKHGQTVSP	QSVPTTNLEV	KNGVNCEHSP	VDLSKVDLHF	MKKIPTGAEA
310	320	330	340	350	360
SNVLVGEVDI	LDRPIVAFVR	LSPAVLLSGL	TEVPIPTRFL	FILLGPVGKG	QQYHEIGRSM
370	380	390	400	410	420
ATIMTDEIFH	DVAYKAKERD	DLLAGIDEFL	DQVTVLPPGE	WDPSIRIEPP	KNVPSQEKRK
430	440	450	460	470	480
MPGVPNGNVC	HIEQEPHGGH	SGPELQRTGR	LFGGLVLDIK	RKAPWYWSDY	RDALSLQCLA
490	500	510	520	530	540
SFLFLYCACM	SPVITFGGLL	GEATEGRISA	IESLFGASMT	GIAYSLFAGQ	ALTILGSTGP
550	560	570	580	590	600
VLVFEKILFK	FCKDYALSYL	SLRACIGLWT	AFLCIVLVAT	DASSLVCYIT	RFTEEAFASL
610	620	630	640	650	660
ICIIFIYEAI	EKLIHLAETY	PIHMHSQLDH	LSLYYCRCTL	PENPNNHTLQ	YWKDHNIVTA
670	680	690	700	710	720
EVHWANLTVS	ECQEMHGEFM	GSACGHHGPY	TPDVLFWSCI	LFFTTFILSS	TLKTFKTSRY
730	740	750	760	770	780
FPTRVRSMVS	DFAVFLTIFT	MVIIDFLIGV	PSPKLQVPSV	FKPTRDDRGW	IINPIGPNPW
790	800	810	820	830	840
WTVIAAIIPA	LLCTILIFMD	QQITAVIINR	KEHKLKKGCG	YHLDLLMVAI	MLGVCSIMGL
850	860	870	880	890	900
PWFVAATVLS	ITHVNSLKLE	SECSAPGEQP	KFLGIREQRV	TGLMIFVLMG	CSVFMTAILK
910	920	930	940	950	960
FIPMPVLYGV	FLYMGVSSLQ	GIQFFDRLKL	FGMPAKHQPD	FIYLRHVPLR	KVHLFTLIQL
970	980	990	1000	1010	1020
TCLVLLWVIK	ASPAAIVFPM	MVLALVFVRK	VMDLCFSKRE	LSWLDDLMPE	SKKKKLDDAK
1030	1040	1050	1060	1070	1080
KKAKEEEEAE	KMLEIGGDKF	PLESRKLLSS	PGKNISCRCD	PSEINISDEM	PKTTVWKALS
1090
MNSGNAKEKS	LFN