AiPD: Autoinhibited Protein Database

Q9UBY0

Gene name	SLC9A2 (NHE2)
Protein name	Sodium/hydrogen exchanger 2
Names	Na(+)/H(+) exchanger 2, NHE-2, Solute carrier family 9 member 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6549
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-86 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-86 (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 Q9UBY0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UBY0-F1	Predicted				AlphaFoldDB

577 variants for Q9UBY0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs267598817 CA1811863 RCV002984983	586	R>C	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000202593 rs864309496	725	Q>missing	Acute megakaryoblastic leukemia [ClinVar]	Yes	ClinVar dbSNP
CA347950287 rs1462331764	2	E>*		No	ClinGen TOPMed
CA347950308 rs1283658782	3	P>S		No	ClinGen gnomAD
CA1811461 rs774818633	5	G>D		No	ClinGen ExAC gnomAD
rs762274165 CA347950385	8	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1811463 rs772362493	9	S>N		No	ClinGen ExAC gnomAD
CA347950417 rs1245555158	11	R>Q		No	ClinGen gnomAD
CA347950430 rs1462140613	12	A>E		No	ClinGen gnomAD
rs940279234 CA52961926	15	P>L		No	ClinGen TOPMed
rs183972576 CA1811466	16	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1448644077 CA347950473	16	P>S		No	ClinGen TOPMed
rs1456540479 CA347950493	17	M>I		No	ClinGen gnomAD
CA1811468 rs373622533	18	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1333350097 CA347950542	22	L>P		No	ClinGen gnomAD
CA1811470 rs752429075	24	Q>K		No	ClinGen ExAC gnomAD
rs758244233 CA347950591	26	A>E		No	ClinGen ExAC
rs758244233 CA1811471	26	A>V		No	ClinGen ExAC
CA1811473 rs751252887	27	G>E		No	ClinGen ExAC gnomAD
rs745400135 CA1811476	28	P>L		No	ClinGen ExAC TOPMed gnomAD
rs376898546 CA1811475	28	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs769141616 CA1811477	29	V>L		No	ClinGen ExAC TOPMed gnomAD
CA1811478 rs769141616	29	V>M		No	ClinGen ExAC TOPMed gnomAD
CA347950638 rs1254622969	30	G>D		No	ClinGen TOPMed gnomAD
CA347950632 rs1355618924	30	G>S		No	ClinGen TOPMed gnomAD
rs868531609 CA52962003	31	A>S		No	ClinGen Ensembl
CA347950653 rs1321752237	31	A>V		No	ClinGen TOPMed
rs967386321 CA347950664	32	L>P		No	ClinGen Ensembl
rs967386321 CA52962008	32	L>Q		No	ClinGen Ensembl
CA1811479 rs748510869	34	E>K		No	ClinGen ExAC gnomAD
rs772632493 CA347950698	35	T>A		No	ClinGen ExAC gnomAD
rs772632493 CA1811480	35	T>S		No	ClinGen ExAC gnomAD
CA347950717 rs1558697248	36	L>F		No	ClinGen Ensembl
rs1472051142 CA347950719	37	L>M		No	ClinGen gnomAD
rs201327150 CA1811485	39	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1811483 rs771083625	39	A>P		No	ClinGen ExAC gnomAD
CA347950740 rs771083625	39	A>S		No	ClinGen ExAC gnomAD
rs771083625 CA1811484	39	A>T		No	ClinGen ExAC gnomAD
rs201327150 CA347950742	39	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA347950748 COSM1613244 rs1399930871	40	P>L	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA347950751 rs1261375454	41	R>K		No	ClinGen TOPMed gnomAD
rs74685539 CA1811487	42	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	42	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762705262 CA1811488	43	M>I		No	ClinGen ExAC gnomAD
CA347950768 rs1454503333	43	M>L		No	ClinGen TOPMed
CA52962042 rs959532687	44	G>D		No	ClinGen Ensembl
rs141211710 CA1811489	45	T>I		No	ClinGen ExAC TOPMed gnomAD
rs141211710 CA347950800	45	T>S		No	ClinGen ExAC TOPMed gnomAD
rs751331638 CA1811490	46	S>I		No	ClinGen ExAC TOPMed gnomAD
rs751331638 CA1811491	46	S>T		No	ClinGen ExAC TOPMed gnomAD
rs767083036 CA1811492	48	S>G		No	ClinGen ExAC gnomAD
rs749892809 CA1811493	48	S>I		No	ClinGen ExAC gnomAD
CA347950850 rs1254800744	49	P>L		No	ClinGen gnomAD
CA1811496 rs201535448	53	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs201535448 CA1811497	53	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs755639078 CA1811494	53	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1811495 rs201535448	53	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3708785 CA1811499 rs544365552 CA52962085	54	S>R	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA1811502 rs776773583	55	V>L		No	ClinGen ExAC gnomAD
rs776773583 CA1811501	55	V>M		No	ClinGen ExAC gnomAD
rs1197864973 CA347950957	57	A>V		No	ClinGen TOPMed gnomAD
rs764048811 CA1811506 CA347950977	59	G>R		No	ClinGen ExAC gnomAD
CA52962102 rs908708983	61	T>K		No	ClinGen TOPMed gnomAD
rs541450881 CA52962108	63	F>L		No	ClinGen TOPMed
rs750110204 CA52962112	64	E>K		No	ClinGen ExAC gnomAD
rs750110204 CA1811510	64	E>Q		No	ClinGen ExAC gnomAD
rs368226194 CA1811511	64	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA347951068 rs766038771	65	E>D		No	ClinGen ExAC gnomAD
CA347951076 rs1370036281	66	S>I		No	ClinGen TOPMed
rs758936239 CA1811514	68	L>V		No	ClinGen ExAC gnomAD
CA1811515 rs778435395	69	P>L		No	ClinGen ExAC gnomAD
CA1811516 rs747383702	72	T>M		No	ClinGen ExAC gnomAD
CA347951227 rs1233049621	77	H>P		No	ClinGen TOPMed
rs939965997 CA52962128	77	H>Y		No	ClinGen gnomAD
rs746125364 CA1811519	80	I>F		No	ClinGen ExAC TOPMed gnomAD
rs770025853 CA1811520	81	P>L		No	ClinGen ExAC gnomAD
CA52962143 rs1038248144	83	E>K		No	ClinGen TOPMed gnomAD
CA347951461 rs1386153907	95	K>T		No	ClinGen gnomAD
TCGA novel	97	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA52328590 rs962097484	99	H>R		No	ClinGen Ensembl
CA347976252 rs1318322932	100	L>P		No	ClinGen gnomAD
rs1310184207 CA347976249	100	L>V		No	ClinGen gnomAD
CA347976253 rs1243595796	101	Y>H		No	ClinGen TOPMed
CA347976295 rs1267249978	106	T>I		No	ClinGen gnomAD
TCGA novel	106	T>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	111	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760554321 CA1811549	115	I>K		No	ClinGen ExAC TOPMed gnomAD
rs760554321 CA1811550	115	I>T		No	ClinGen ExAC TOPMed gnomAD
CA1811551 rs776490294	116	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1332107931 CA347976370	118	G>R		No	ClinGen TOPMed
TCGA novel	122	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1811553 rs764698491	123	G>E		No	ClinGen ExAC gnomAD
rs762185903 CA1811555	124	I>V		No	ClinGen ExAC gnomAD
CA347976417 rs1465147282	126	F>L		No	ClinGen gnomAD
rs1284111142 CA347976427	127	G>D		No	ClinGen gnomAD
CA347976456 rs1375155429	131	K>R		No	ClinGen gnomAD
CA347976506 rs1364724525	138	T>I		No	ClinGen TOPMed
CA1811558 rs756529995	139	D>E		No	ClinGen ExAC gnomAD
CA347976514 rs1268726450	140	V>I		No	ClinGen TOPMed
TCGA novel	142	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1811561 rs755063942	144	Y>*		No	ClinGen ExAC gnomAD
CA1811560 rs754100035	144	Y>S		No	ClinGen ExAC gnomAD
CA52328615 rs372934406	150	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA52328622 rs910805818	154	G>D		No	ClinGen TOPMed
CA1811567 rs201828131	154	G>S	Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA347976617 rs1249834714	156	F>V		No	ClinGen gnomAD
rs746793643 CA1811568	158	P>L		No	ClinGen ExAC gnomAD
CA52328627 rs920449912	160	R>C		No	ClinGen TOPMed
CA347976645 rs920449912	160	R>G		No	ClinGen TOPMed
COSM39266 rs1192112896 CA347976646	160	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1195165330 CA347976650	161	P>A		No	ClinGen TOPMed
rs1487202486 CA347976654	161	P>L		No	ClinGen TOPMed
rs201412062 CA52328629	162	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA347976656 rs1425150409	162	F>V		No	ClinGen gnomAD
rs1204621661 CA347976692	166	I>S		No	ClinGen TOPMed
rs1173076672 CA347976694	167	G>S		No	ClinGen gnomAD
rs1429770506 CA347976705	168	T>M		No	ClinGen gnomAD
CA52328634 rs1040781618	173	A>V		No	ClinGen Ensembl
CA52328635 rs903225734	174	V>L		No	ClinGen Ensembl
TCGA novel	179	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	179	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774795762 CA1811573	182	I>T		No	ClinGen ExAC TOPMed gnomAD
CA52328640 rs140049116	183	G>D		No	ClinGen ESP
CA347976820 rs1217412347	184	I>F		No	ClinGen gnomAD
rs1438926858 CA347976828	184	I>T		No	ClinGen TOPMed
CA347976850 rs1227712641	186	V>L		No	ClinGen gnomAD
CA52328642 rs907756672	188	L>F		No	ClinGen TOPMed
TCGA novel	189	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1444471556 CA347976914	191	I>V		No	ClinGen TOPMed
CA1811576 rs767896898	194	I>M		No	ClinGen ExAC TOPMed gnomAD
rs762536262 CA1811574	194	I>V		No	ClinGen ExAC gnomAD
CA1811577 rs61743555	195	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766779110 CA1811578	196	A>E		No	ClinGen ExAC gnomAD
rs766779110 CA347976993	196	A>G		No	ClinGen ExAC gnomAD
rs139722927 CA1811579	197	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1811580 COSM1004702 rs755119853	198	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1391280119 CA347977044	200	S>N		No	ClinGen gnomAD
rs752665151 COSM1690854 CA1811582	201	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1811583 rs758567080	201	D>V		No	ClinGen ExAC gnomAD
rs777819206 CA1811584	203	T>I		No	ClinGen ExAC gnomAD
rs777819206 CA347977093	203	T>S		No	ClinGen ExAC gnomAD
CA1811585 rs746987997	205	L>V		No	ClinGen ExAC gnomAD
CA1811587 rs781092847	209	L>F		No	ClinGen ExAC gnomAD
CA1811589 rs762172123	210	F>L		No	ClinGen ExAC gnomAD
CA347977210 rs1227833370	211	G>S		No	ClinGen TOPMed gnomAD
rs1361591297 CA347977228	212	S>G		No	ClinGen gnomAD
CA347977240 rs1421175971	212	S>R		No	ClinGen TOPMed gnomAD
rs1320324086 CA347977328	218	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1158866172 CA347977348	219	P>S		No	ClinGen TOPMed gnomAD
rs748745193 CA1811591	221	A>P		No	ClinGen ExAC gnomAD
rs1225527968 CA347977382	224	A>P		No	ClinGen TOPMed
rs1371342243 CA347977401	227	E>K		No	ClinGen TOPMed
rs373112278 CA1811594	231	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1336087660 CA347977522	232	N>S		No	ClinGen gnomAD
rs776918709 CA1811596	234	Q>K		No	ClinGen ExAC gnomAD
CA1811597 rs376604164	237	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA347977672 rs1558710025	242	E>Q		No	ClinGen Ensembl
TCGA novel	243	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1573411838 CA347977739	246	N>S		No	ClinGen Ensembl
CA347979480 rs1475089052	252	V>F		No	ClinGen TOPMed
CA347979493 rs1206658371	254	Y>C		No	ClinGen gnomAD
CA1811623 rs763192284	255	N>K		No	ClinGen ExAC
rs764415491 CA1811624	256	L>F		No	ClinGen ExAC gnomAD
rs146727651 CA1811626	259	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs146727651 CA1811625	259	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs767558140 CA347979530	260	F>I		No	ClinGen ExAC TOPMed gnomAD
CA1811627 rs767558140	260	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1558712671 CA347979538	261	C>R		No	ClinGen Ensembl
TCGA novel	269	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1811628 rs115807121	269	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1811630 rs779851991	271	V>M		No	ClinGen ExAC gnomAD
CA52330073 rs867157848	274	G>E		No	ClinGen Ensembl
COSM1004704 rs780009913 CA1811631	276	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA347979656 rs1338166831	277	N>H		No	ClinGen TOPMed
CA347979686 rs754562375	278	F>S		No	ClinGen ExAC TOPMed gnomAD
CA1811632 rs754562375	278	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs1573415417 CA347979786	283	I>T		No	ClinGen Ensembl
rs781525495 CA1811636	284	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1303339450 CA347979824	285	G>A		No	ClinGen TOPMed
rs770233172 CA1811638	288	I>F		No	ClinGen ExAC gnomAD
rs1230203233 CA347979861	288	I>T		No	ClinGen gnomAD
CA347979868 rs1482451230	289	G>A		No	ClinGen gnomAD
CA1811639 rs775854242	290	I>F		No	ClinGen ExAC gnomAD
CA347979877 rs1197877519	291	F>L		No	ClinGen gnomAD
CA1811643 rs761952938	295	I>M		No	ClinGen ExAC gnomAD
rs377535586 CA1811642	295	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA347979932 rs767754729	296	A>E		No	ClinGen ExAC gnomAD
CA1811644 rs767754729	296	A>V		No	ClinGen ExAC gnomAD
CA347979938 rs1558712738	297	A>G		No	ClinGen Ensembl
CA347979934 rs1392060878	297	A>T		No	ClinGen gnomAD
rs1386751319 VAR_035964 COSM33240 CA347979952	299	T>S	breast a breast cancer sample; somatic mutation [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt dbSNP gnomAD
CA1811646 rs760623373	300	T>A		No	ClinGen ExAC TOPMed gnomAD
CA347979970 rs753614939	301	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1811648 rs753614939	301	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1811650 rs748590704	301	R>KPSVSFTKYV*		No	ClinGen ExAC
CA347979977 rs754828200	301	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754828200 CA1811649	301	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs988598670 CA52330105	303	T>A		No	ClinGen TOPMed gnomAD
CA347980013 rs1393142244	303	T>I		No	ClinGen TOPMed
rs988598670 CA347980006	303	T>P		No	ClinGen TOPMed gnomAD
rs764869087 CA1811651	304	H>D		No	ClinGen ExAC gnomAD
TCGA novel	305	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752390439 CA1811652	305	N>T		No	ClinGen ExAC gnomAD
CA347980071 rs1250852690	306	I>M		No	ClinGen gnomAD
rs1053332554 CA52330110	307	R>*		No	ClinGen TOPMed
CA347980082 rs1558712761	307	R>P		No	ClinGen Ensembl
CA347980080 rs1558712761	307	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA1811655 rs148004830	309	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347980164 rs1201999552	312	L>P		No	ClinGen TOPMed
rs749665671 CA1811659	315	F>L		No	ClinGen ExAC TOPMed gnomAD
rs769183057 CA1811660	316	L>P		No	ClinGen ExAC gnomAD
CA52330124 rs755247181	322	Y>*		No	ClinGen TOPMed gnomAD
rs748332755 CA1811662	322	Y>C		No	ClinGen ExAC gnomAD
CA347980271 rs1391209970	323	I>M		No	ClinGen gnomAD
CA1811663 rs566829827	323	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA1811664 rs370904789	324	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1811665 rs370904789	324	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs866173867 CA52330130	326	E>K		No	ClinGen Ensembl
CA347980305 rs1320374020	328	F>L		No	ClinGen gnomAD
rs776620117 CA1811667	335	A>G		No	ClinGen ExAC gnomAD
rs776620117 CA347980352	335	A>V		No	ClinGen ExAC gnomAD
CA347981727 rs1197321507	337	T>S		No	ClinGen TOPMed gnomAD
CA347981734 rs1287437677	338	A>V		No	ClinGen gnomAD
rs1256807243 CA347981768	343	M>T		No	ClinGen TOPMed gnomAD
CA347981764 rs1212430599	343	M>V		No	ClinGen gnomAD
rs776531884 CA1811686	345	K>Q		No	ClinGen ExAC gnomAD
rs933583910 CA52334536	345	K>T		No	ClinGen TOPMed gnomAD
CA347981798 rs1473181712	347	V>A		No	ClinGen gnomAD
rs368738669 CA1811688	347	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	351	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA52334547 rs758108352	357	T>M		No	ClinGen Ensembl
CA52334544 rs13021567	357	T>S		No	ClinGen Ensembl
CA1811691 rs763796670	359	I>M		No	ClinGen ExAC gnomAD
CA52334553 rs763991851	359	I>T		No	ClinGen Ensembl
CA1811692 rs751210848	360	K>T		No	ClinGen ExAC gnomAD
CA1811694 rs767088088	361	Y>H		No	ClinGen ExAC gnomAD
rs12996049 CA52334572	366	L>M		No	ClinGen TOPMed
CA52334577 rs867307629	367	S>N		No	ClinGen TOPMed
rs779577252 CA1811697	369	V>A		No	ClinGen ExAC TOPMed gnomAD
rs867313703 CA52334583 COSM230483	371	E>K	large_intestine Variant assessed as Somatic; impact. skin [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA347982022 rs1220727496	376	I>V		No	ClinGen gnomAD
CA52334591 rs201007398	382	T>A		No	ClinGen Ensembl
COSM40623 rs758758483 CA1811699	383	V>M	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA52334600 rs374484897	384	G>S		No	ClinGen TOPMed gnomAD
rs771212860 CA347982209	388	E>D		No	ClinGen ExAC TOPMed gnomAD
CA52334606 rs892851421	388	E>G		No	ClinGen TOPMed
CA1811701 rs747247312	388	E>K		No	ClinGen ExAC gnomAD
rs138052501 COSM107489 CA52334610	389	W>*	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	390	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347982256 rs1267150147	391	W>G		No	ClinGen gnomAD
CA52334617 rs200472482	394	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA52334620 rs199631560	395	C>Y		No	ClinGen 1000Genomes gnomAD
CA347982324 rs1169207710	396	F>L		No	ClinGen gnomAD
rs1352669758 CA347982335	397	T>I		No	ClinGen TOPMed gnomAD
rs1352669758 CA347982336	397	T>N		No	ClinGen TOPMed gnomAD
CA347982352 rs1293858545	400	F>S		No	ClinGen TOPMed gnomAD
rs1293858545 CA347982351	400	F>Y		No	ClinGen TOPMed gnomAD
rs1370006980 CA347982371	403	M>V		No	ClinGen gnomAD
rs769703806 CA1811705	405	R>*		No	ClinGen ExAC TOPMed gnomAD
rs372115727 CA52334627	405	R>Q		No	ClinGen ESP TOPMed
CA1811706 rs375433711	406	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1041487186 CA52334834	409	V>G		No	ClinGen TOPMed
CA347982946 rs1268449065	409	V>L		No	ClinGen gnomAD
CA52334836 rs757359804	410	F>C		No	ClinGen ExAC TOPMed gnomAD
CA347982953 rs1304074947	410	F>L		No	ClinGen gnomAD
CA1811719 rs757359804	410	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA1811720 rs781447431	411	V>L		No	ClinGen ExAC gnomAD
rs769899774 CA1811722	412	L>R		No	ClinGen ExAC gnomAD
CA1811724 rs749130811	413	T>A		No	ClinGen ExAC TOPMed gnomAD
rs938522262 CA52334847	414	Q>H		No	ClinGen TOPMed
rs768671105 CA1811725	416	I>V		No	ClinGen ExAC gnomAD
CA347983038 rs1423519637	417	N>H		No	ClinGen TOPMed
CA1811726 rs773952288	418	R>K		No	ClinGen ExAC TOPMed gnomAD
CA347983063 rs773952288	418	R>M		No	ClinGen ExAC TOPMed gnomAD
rs761684174 CA1811727	420	R>W		No	ClinGen ExAC gnomAD
CA1811728 rs771839086	421	T>A		No	ClinGen ExAC gnomAD
CA1811729 rs771839086	421	T>S		No	ClinGen ExAC gnomAD
rs1417058156 CA347983106	422	I>T		No	ClinGen gnomAD
rs1161064311 CA347983181	428	D>N		No	ClinGen gnomAD
CA347983279 rs1198627894	433	A>V		No	ClinGen TOPMed
CA1811731 rs766040454	434	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	435	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	435	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347983335 rs1361191978	438	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1811733 rs763299512	438	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs764672486 CA1811734	442	C>S		No	ClinGen ExAC
rs377206233 CA1811736 COSM440922	444	A>V	liver breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs561680595 CA1811738	449	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1257344491 CA347983473	450	P>S		No	ClinGen TOPMed
CA347983485 rs1204114848	452	A>P		No	ClinGen TOPMed gnomAD
rs1204114848 CA347983484	452	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1006164368 CA52334882	453	V>L		No	ClinGen TOPMed
rs1443843603 CA347983495	454	F>L	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749391564 CA1811741	455	P>H		No	ClinGen ExAC gnomAD
rs529065601 CA1811740	455	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs200846141 CA1811743	456	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754814590 CA1811742	456	R>W		No	ClinGen ExAC gnomAD
rs772035201 CA1811745	459	L>F		No	ClinGen ExAC gnomAD
CA52334894 rs368185370	459	L>M		No	ClinGen ExAC TOPMed gnomAD
CA1811746 rs772980419	462	T>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA347983545 rs1573426487	462	T>P		No	ClinGen Ensembl
CA1811748 rs770743238	463	A>P		No	ClinGen ExAC gnomAD
CA1811749 rs775941015	464	A>G		No	ClinGen ExAC TOPMed gnomAD
rs775941015 CA1811750	464	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1811751 rs764500702	465	I>L		No	ClinGen ExAC gnomAD
CA347983560 rs764500702	465	I>V		No	ClinGen ExAC gnomAD
CA1811752 rs774960509	467	V>A		No	ClinGen ExAC gnomAD
CA52334917 rs1030426119	467	V>I		No	ClinGen TOPMed
rs762142012 CA347983589	469	F>L		No	ClinGen ExAC TOPMed gnomAD
CA347983595 rs1277022746	470	F>C		No	ClinGen gnomAD
CA347983603 rs1346641567	471	T>I		No	ClinGen gnomAD
CA347983616 rs149530548 CA52334923	473	F>L		No	ClinGen TOPMed gnomAD
rs767819457 CA1811754	474	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750817058	475	L>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	478	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347977879 rs1451613666	480	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1189263323 CA347977880	480	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs752859008 CA1811779	481	P>L		No	ClinGen ExAC gnomAD
rs765314582 CA1811778	481	P>S		No	ClinGen ExAC gnomAD
CA1811781 rs777911303	485	F>L		No	ClinGen ExAC gnomAD
rs757112975 CA1811783	488	V>I		No	ClinGen ExAC gnomAD
rs1436874716 CA347978095	490	R>K		No	ClinGen gnomAD
rs745473591 CA1811785	491	S>P		No	ClinGen ExAC TOPMed gnomAD
CA347978154 rs191805679	492	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1811786 rs191805679	492	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs913374811 CA52321844	493	K>N		No	ClinGen TOPMed
rs1164447116 CA347978235	495	Q>K		No	ClinGen gnomAD
CA1811788 rs748810243	497	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1382028624 CA347978310	498	V>L		No	ClinGen TOPMed
CA1811789 rs772555704	504	C>S		No	ClinGen ExAC gnomAD
rs971648168 CA52321849	505	R>Q		No	ClinGen TOPMed gnomAD
rs1205963743 CA347978465	505	R>W		No	ClinGen gnomAD
CA1811804 rs41280603	509	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1311908168 CA347978921 COSM1741385	513	G>A	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	514	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755743085 CA1811807	517	V>I		No	ClinGen ExAC TOPMed
rs779730398 CA1811808	518	C>S		No	ClinGen ExAC gnomAD
rs1573432569 CA347979092	520	H>Y		No	ClinGen Ensembl
CA52321982 rs1010366139	527	R>K		No	ClinGen TOPMed gnomAD
TCGA novel	528	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs543020919 CA1811826	530	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA347980374 rs1356176845	531	K>Q		No	ClinGen TOPMed gnomAD
TCGA novel	532	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347980436 rs371605244	539	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1811828 rs755713939	539	R>Q		No	ClinGen ExAC gnomAD
rs371605244 CA1811827	539	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	541	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	541	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1811830 rs766000036	544	R>P		No	ClinGen ExAC gnomAD
rs766000036 CA347980468	544	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1669186 CA1811829 rs754636208	544	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA347980477 rs1370607453	545	E>D		No	ClinGen gnomAD
rs747639509 CA1811831	546	N>K		No	ClinGen ExAC TOPMed gnomAD
CA347980485 rs1160758028	547	Q>K		No	ClinGen gnomAD
CA1811832 rs757730533	548	P>T		No	ClinGen ExAC gnomAD
TCGA novel	553	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1811833 rs374840608	554	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs766032184 CA1811835	556	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	563	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	564	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1811836 rs143332304	569	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA52323259 rs866006156	570	T>N		No	ClinGen Ensembl
rs749456338 CA1811837	572	M>I		No	ClinGen ExAC TOPMed gnomAD
rs769032201 CA1811838	573	I>L		No	ClinGen ExAC gnomAD
rs761848429 CA1811840	576	V>D		No	ClinGen ExAC gnomAD
CA1811843 rs372340067	581	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA347980732 rs1393978137	583	N>S		No	ClinGen gnomAD
CA1811862 rs760537128	584	D>N		No	ClinGen ExAC gnomAD
CA347980764 rs267598817	586	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1811864 rs143663218	586	R>H	Variant assessed as Somatic; 4.672e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs759371954 CA1811865	588	E>D		No	ClinGen ExAC TOPMed gnomAD
rs764942159 CA1811866	590	I>V		No	ClinGen ExAC TOPMed gnomAD
rs762683351 CA1811868	591	R>T		No	ClinGen ExAC gnomAD
CA347980807 rs1239890609	592	K>M		No	ClinGen TOPMed gnomAD
rs763447980 CA1811869	593	V>F		No	ClinGen ExAC TOPMed gnomAD
rs763447980 CA347980810	593	V>I		No	ClinGen ExAC TOPMed gnomAD
rs751114161 CA1811870	594	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	596	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347980827 rs1425121128	596	S>R		No	ClinGen TOPMed
CA1811872 rs146306086	598	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1811874 rs755460043	601	I>V		No	ClinGen ExAC gnomAD
CA1811875 rs779181985	602	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA52323519 rs955357416	603	E>Q		No	ClinGen TOPMed gnomAD
rs1488319369 CA347980883	604	L>R		No	ClinGen TOPMed
rs1156952636 CA347980887	605	L>V		No	ClinGen gnomAD
rs1288834240 CA347980902	607	R>T		No	ClinGen TOPMed
CA1811876 rs748259054	608	N>T		No	ClinGen ExAC
rs777672924 CA1811878	611	Q>*		No	ClinGen ExAC gnomAD
CA347980928 rs777672924	611	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1354181126 CA347980943	613	R>C		No	ClinGen gnomAD
rs1444790071 CA347980946	613	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA1811881 rs770829784	615	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776586976 CA1811882	615	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs757389529 CA1811900	616	T>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1444026726 CA347981246	622	H>Y		No	ClinGen gnomAD
TCGA novel	625	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1393376411 CA347981276	626	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA347981278 rs1393376411	626	A>V		No	ClinGen gnomAD
CA1811903 rs769804681	627	D>H		No	ClinGen ExAC TOPMed gnomAD
CA347981279 rs769804681	627	D>N	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1396494838 CA347981290 COSM440924	628	T>R	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs767241324 CA1811904	635	E>Q		No	ClinGen ExAC gnomAD
COSM1004710 rs144961744 CA52323999	640	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA gnomAD
CA1811905 rs749158416	640	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1298969861 CA347981372	641	R>*		No	ClinGen gnomAD
CA52324008 rs201034436	645	R>*		No	ClinGen ExAC TOPMed gnomAD
CA1811907 rs774215076	645	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	646	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1811909 rs567325013	647	S>G		No	ClinGen ExAC TOPMed gnomAD
rs759919335 CA1811911	652	S>N		No	ClinGen ExAC gnomAD
CA347981457 rs1469038550	653	S>C		No	ClinGen gnomAD
rs549745401 CA1811912	654	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1265271530 CA347981473	655	N>S		No	ClinGen gnomAD
rs992622109 CA347981478	656	R>*		No	ClinGen TOPMed gnomAD
rs992622109 CA347981477	656	R>G		No	ClinGen TOPMed gnomAD
rs115244050 CA1811914	656	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs115244050 CA1811915	656	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1811913 rs115244050	656	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1372986151 CA347981483	657	E>G		No	ClinGen gnomAD
rs1356071403 CA347981522	661	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1811941 rs753751044	661	S>P		No	ClinGen ExAC gnomAD
CA347981525 rs778809449	662	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1811943 rs778809449	662	T>P		No	ClinGen ExAC TOPMed gnomAD
CA1811945 rs771824695	664	T>N		No	ClinGen ExAC TOPMed gnomAD
CA1811944 rs201372565	664	T>S		No	ClinGen ExAC TOPMed gnomAD
rs868484426 CA347981547	666	R>*		No	ClinGen TOPMed gnomAD
rs572895281 CA1811947 COSM1494489	666	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA347981552 rs1323698197	667	Y>H		No	ClinGen TOPMed
CA52324326 rs937616063	668	L>F		No	ClinGen Ensembl
CA52324328 rs866482607	669	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA347981564 rs1281640403	669	S>P		No	ClinGen gnomAD
CA1811949 rs776012445	673	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1811950 rs763481880	674	T>M		No	ClinGen ExAC TOPMed gnomAD
CA347981603 rs1182090859	675	K>E		No	ClinGen gnomAD
rs376425428 CA52324340	677	P>L		No	ClinGen ESP TOPMed
CA52324338 rs895856092	677	P>T		No	ClinGen TOPMed
TCGA novel	679	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166986063 CA347981653	682	K>R		No	ClinGen TOPMed
CA1811955 rs750715419	683	R>W		No	ClinGen ExAC gnomAD
CA347981663 rs1291519069	684	R>G		No	ClinGen gnomAD
rs1047182680 CA52324351	684	R>T		No	ClinGen TOPMed gnomAD
CA347981691 rs1391825469	688	I>N		No	ClinGen gnomAD
CA347981698 rs1306547917	689	A>T		No	ClinGen gnomAD
rs1227106530 CA347982417	690	D>G		No	ClinGen gnomAD
TCGA novel	695	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347982456 rs1456137148	695	D>V		No	ClinGen gnomAD
CA1811974 rs759669566	697	D>E		No	ClinGen ExAC gnomAD
rs1419633374 CA347982469	697	D>G		No	ClinGen gnomAD
rs1419633374 CA347982470	697	D>V		No	ClinGen gnomAD
rs1404308527 CA347982473	698	A>P		No	ClinGen gnomAD
rs776748264 CA1811975	699	D>E		No	ClinGen ExAC gnomAD
rs199943468 CA1811976	700	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA347982490 rs1421533589	701	G>R	Variant assessed as Somatic; 4.627e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA347982497 rs1225837037	702	T>A		No	ClinGen TOPMed
rs1322007593 CA347982501	702	T>S		No	ClinGen TOPMed
CA1811979 rs758419336	703	T>I		No	ClinGen ExAC gnomAD
CA52324857 rs1033220152	704	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs756914312 CA1811982	706	N>K		No	ClinGen ExAC gnomAD
rs1029940496 CA52324860	706	N>S		No	ClinGen TOPMed
CA347982525 rs1349572171	707	L>V		No	ClinGen gnomAD
CA1811983 rs780751618	709	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA52324863 rs890007211	710	R>T		No	ClinGen TOPMed
CA1811984 rs745379416	711	A>T		No	ClinGen ExAC gnomAD
rs111701551 CA52324865	712	R>K		No	ClinGen Ensembl
COSM1004713 CA347982564 rs1363218321	713	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA347982566 rs1363218321	713	R>L		No	ClinGen TOPMed gnomAD
rs1327032925 CA347982561	713	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1324575386 CA347982568	714	F>L		No	ClinGen gnomAD
CA1811985 rs755681168	715	L>F		No	ClinGen ExAC TOPMed gnomAD
CA347982578 rs1382178493	715	L>S		No	ClinGen gnomAD
rs957244963 CA52324866	718	Q>H		No	ClinGen TOPMed
CA347982608 rs1337408612 CA347982609	719	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779553971 CA1811986	721	K>N		No	ClinGen ExAC gnomAD
CA1811988 rs267598818	723	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1811987 rs267598818	723	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1399945992 CA347982635	724	P>T		No	ClinGen TOPMed
rs864309496	725	Q>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA347982660 rs1470355764	727	Y>*		No	ClinGen TOPMed
CA1811989 rs375217344	727	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	730	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747380098 CA1811990	731	W>R		No	ClinGen ExAC gnomAD
rs1486122959 CA347982699	732	K>R		No	ClinGen gnomAD
CA347982714 rs1261029608	734	E>A		No	ClinGen TOPMed gnomAD
rs1192866272 CA347982711	734	E>K		No	ClinGen gnomAD
CA11121898 rs566603171	736	D>H		No	ClinGen TOPMed gnomAD
CA1811992 rs776781986	737	V>A		No	ClinGen ExAC gnomAD
CA347982736 rs776781986	737	V>G		No	ClinGen ExAC gnomAD
rs1243272709 CA347982750	739	S>F		No	ClinGen TOPMed
CA52324875 rs989175326	742	D>E		No	ClinGen TOPMed gnomAD
CA347982775 rs1460422452	743	M>I		No	ClinGen TOPMed
CA347982785 rs1573439209	745	S>G		No	ClinGen Ensembl
CA1811996 rs775747049	746	T>I		No	ClinGen ExAC TOPMed gnomAD
rs775747049 CA347982795	746	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1573439213 CA347982792	746	T>P		No	ClinGen Ensembl
CA1811998 rs763991141	747	P>T		No	ClinGen ExAC TOPMed gnomAD
rs765324014 CA1811999	748	P>A		No	ClinGen ExAC TOPMed gnomAD
rs150662206 CA1812002	748	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs748701652	748	P>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs150662206 CA1812001	748	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs765324014 CA1812000	748	P>S		No	ClinGen ExAC TOPMed gnomAD
rs765324014 CA52324883	748	P>T		No	ClinGen ExAC TOPMed gnomAD
CA347982806 rs1377929861	749	T>K		No	ClinGen gnomAD
rs748701652	749	T>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA1812003 rs202141524	750	P>S		No	ClinGen ExAC gnomAD
CA1812006 rs758915962	751	H>Y		No	ClinGen ExAC gnomAD
rs1333350057 CA347982831	753	R>K		No	ClinGen TOPMed
COSM106885 CA52324895 rs147224345	754	E>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs778182977 CA1812007	759	T>K		No	ClinGen ExAC gnomAD
CA347982878 rs1486632999	760	S>A		No	ClinGen gnomAD
CA347982881 rs1188337344	760	S>L		No	ClinGen gnomAD
rs1573439262 CA347982902	764	Q>*		No	ClinGen Ensembl
rs770165179 CA1812012	764	Q>R		No	ClinGen ExAC gnomAD
rs533755632 CA52324905	765	Q>K		No	ClinGen Ensembl
CA1812014 rs762987413	766	P>L		No	ClinGen ExAC gnomAD
CA1812013 rs775691912	766	P>S		No	ClinGen ExAC gnomAD
rs768638425 CA1812015	767	L>R		No	ClinGen ExAC gnomAD
CA347982945 COSM1291274 rs1419158315	769	S>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1156588847 CA347982940	769	S>P		No	ClinGen TOPMed
CA1812017 rs752955881	770	K>E		No	ClinGen ExAC TOPMed gnomAD
CA1812019 rs750251586	771	D>E		No	ClinGen ExAC gnomAD
rs56156264 CA1812018	771	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs56156264 CA347982962	771	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760269663 CA1812021	772	Q>*		No	ClinGen ExAC gnomAD
rs760269663 CA1812020	772	Q>K		No	ClinGen ExAC gnomAD
rs1573439317 CA347982980	772	Q>L		No	ClinGen Ensembl
rs1444901586 CA347982993	773	S>C		No	ClinGen gnomAD
rs1444901586 CA347982989	773	S>Y		No	ClinGen gnomAD
rs368881882 CA1812022	774	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368881882 CA1812023	774	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA347983015 rs1238747699	776	E>Q		No	ClinGen gnomAD
rs1306489246 CA347983036	777	R>S		No	ClinGen gnomAD
CA1812025 rs751949634	779	D>E		No	ClinGen ExAC TOPMed gnomAD
rs781109121 CA52324925	780	S>N		No	ClinGen TOPMed
rs1200974094 CA347983085	781	L>V		No	ClinGen TOPMed gnomAD
rs757784007 CA1812026	782	T>I		No	ClinGen ExAC gnomAD
CA347983107 rs1440476231	783	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1424935824 CA347983120	784	G>S		No	ClinGen gnomAD
rs932850964 CA52324932	786	P>L		No	ClinGen TOPMed
rs746286850 CA1812028	786	P>T		No	ClinGen ExAC gnomAD
CA1812029 rs750262697	787	P>S		No	ClinGen ExAC TOPMed gnomAD
CA52324935 rs1050377778	788	K>E		No	ClinGen Ensembl
CA1812030 rs780493869	788	K>N		No	ClinGen ExAC TOPMed gnomAD
rs768561463 CA1812032	789	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749375343 CA347983169	789	P>S		No	ClinGen ExAC gnomAD
rs749375343 CA1812031	789	P>T		No	ClinGen ExAC gnomAD
rs1328097608 CA347983189	790	P>S		No	ClinGen TOPMed
CA347983194 rs1400772561	791	P>T		No	ClinGen gnomAD
rs774494897 CA347983203	792	R>G		No	ClinGen ExAC TOPMed gnomAD
CA1812035 rs772017510	792	R>Q		No	ClinGen ExAC gnomAD
rs774494897 CA1812033	792	R>W		No	ClinGen ExAC TOPMed gnomAD
CA52324951 rs897223216	794	V>F		No	ClinGen TOPMed gnomAD
CA347983218 rs1445605216	794	V>G		No	ClinGen gnomAD
rs897223216 CA52324949	794	V>L		No	ClinGen TOPMed gnomAD
CA52324952 rs1042363410	795	W>C		No	ClinGen Ensembl
CA1812037 rs760502626	797	A>E		No	ClinGen ExAC gnomAD
CA347983248 rs1318855577	797	A>T		No	ClinGen gnomAD
rs902523981 CA52324955 COSM1163212	798	S>L	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA347983260 rs1274168459	798	S>P		No	ClinGen TOPMed gnomAD
rs902523981 CA347983266	798	S>W		No	ClinGen TOPMed gnomAD
rs866054183 CA52324957	799	E>K		No	ClinGen Ensembl
rs766015522 CA347983286	800	P>A		No	ClinGen ExAC TOPMed gnomAD
rs766015522 CA1812038	800	P>S		No	ClinGen ExAC TOPMed gnomAD
CA347983322 rs144197023	803	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144197023 CA1812040	803	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1812039 rs537561748	803	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1812041 rs764582372	806	R>*		No	ClinGen ExAC gnomAD
rs764582372 CA347983347	806	R>G		No	ClinGen ExAC gnomAD
rs1376400307 CA347983350	806	R>L		No	ClinGen gnomAD
VAR_035965	806	R>Q	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs1219583629 CA347983358	807	F>S		No	ClinGen TOPMed
CA347983361 rs1219583629	807	F>Y		No	ClinGen TOPMed
CA347983374 rs1384521432	808	G>E		No	ClinGen Ensembl
rs1476689821 CA347983369	808	G>R		No	ClinGen TOPMed gnomAD
rs1573439471 CA347983388	809	S>R		No	ClinGen Ensembl
rs144642954 CA1812042	810	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1573439486 CA347983415	812	P>T		No	ClinGen Ensembl
CA1812043 rs757685518	813	P>S		No	ClinGen ExAC gnomAD

No associated diseases with Q9UBY0

2 regional properties for Q9UBY0

Type	Name	Position	InterPro Accession
domain	Cation/H+ exchanger	84 - 484	IPR006153
domain	Sodium/hydrogen exchanger, regulatory region	575 - 684	IPR032103

Functions

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

2 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.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
potassium:proton antiporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: K+(in) + H+(out) = K+(out) + H+(in).
sodium:proton antiporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + H+(in) = Na+(in) + H+(out).

5 GO annotations of biological process

Name	Definition
ion transport	The directed movement of charged atoms or small charged molecules into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
potassium ion transmembrane transport	A process in which a potassium ion is transported from one side of a membrane to the other.
protein localization	Any process in which a protein is transported to, or maintained in, a specific location.
regulation of intracellular pH	Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion.
sodium ion import across plasma membrane	The directed movement of sodium ions from outside of a cell, across the plasma membrane and into the cytosol.

13 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q28036	SLC9A1	Sodium/hydrogen exchanger 1	Bos taurus (Bovine)	PR
Q14940	SLC9A5	Sodium/hydrogen exchanger 5	Homo sapiens (Human)	PR
P19634	SLC9A1	Sodium/hydrogen exchanger 1	Homo sapiens (Human)	PR
Q4G0N8	SLC9C1	Sodium/hydrogen exchanger 10	Homo sapiens (Human)	PR
Q61165	Slc9a1	Sodium/hydrogen exchanger 1	Mus musculus (Mouse)	PR
Q8BUE1	Slc9a4	Sodium/hydrogen exchanger 4	Mus musculus (Mouse)	PR
P48762	SLC9A1	Sodium/hydrogen exchanger 1	Sus scrofa (Pig)	PR
P26434	Slc9a4	Sodium/hydrogen exchanger 4	Rattus norvegicus (Rat)	PR
P26431	Slc9a1	Sodium/hydrogen exchanger 1	Rattus norvegicus (Rat)	PR
P48763	Slc9a2	Sodium/hydrogen exchanger 2	Rattus norvegicus (Rat)	PR
Q8T5S1	nhx-2	Na(+)/H(+) exchanger protein 2	Caenorhabditis elegans	PR
Q84WG1	NHX3	Sodium/hydrogen exchanger 3	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8S397	NHX4	Sodium/hydrogen exchanger 4	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEPLGNWRSL	RAPLPPMLLL	LLLQVAGPVG	ALAETLLNAP	RAMGTSSSPP	SPASVVAPGT
70	80	90	100	110	120
TLFEESRLPV	FTLDYPHVQI	PFEITLWILL	ASLAKIGFHL	YHKLPTIVPE	SCLLIMVGLL
130	140	150	160	170	180
LGGIIFGVDE	KSPPAMKTDV	FFLYLLPPIV	LDAGYFMPTR	PFFENIGTIF	WYAVVGTLWN
190	200	210	220	230	240
SIGIGVSLFG	ICQIEAFGLS	DITLLQNLLF	GSLISAVDPV	AVLAVFENIH	VNEQLYILVF
250	260	270	280	290	300
GESLLNDAVT	VVLYNLFKSF	CQMKTIETID	VFAGIANFFV	VGIGGVLIGI	FLGFIAAFTT
310	320	330	340	350	360
RFTHNIRVIE	PLFVFLYSYL	SYITAEMFHL	SGIMAITACA	MTMNKYVEEN	VSQKSYTTIK
370	380	390	400	410	420
YFMKMLSSVS	ETLIFIFMGV	STVGKNHEWN	WAFVCFTLAF	CLMWRALGVF	VLTQVINRFR
430	440	450	460	470	480
TIPLTFKDQF	IIAYGGLRGA	ICFALVFLLP	AAVFPRKKLF	ITAAIVVIFF	TVFILGITIR
490	500	510	520	530	540
PLVEFLDVKR	SNKKQQAVSE	EIYCRLFDHV	KTGIEDVCGH	WGHNFWRDKF	KKFDDKYLRK
550	560	570	580	590	600
LLIRENQPKS	SIVSLYKKLE	IKHAIEMAET	GMISTVPTFA	SLNDCREEKI	RKVTSSETDE
610	620	630	640	650	660
IRELLSRNLY	QIRQRTLSYN	RHSLTADTSE	RQAKEILIRR	RHSLRESIRK	DSSLNREHRA
670	680	690	700	710	720
STSTSRYLSL	PKNTKLPEKL	QKRRTISIAD	GNSSDSDADA	GTTVLNLQPR	ARRFLPEQFS
730	740	750	760	770	780
KKSPQSYKME	WKNEVDVDSG	RDMPSTPPTP	HSREKGTQTS	GLLQQPLLSK	DQSGSEREDS
790	800	810
LTEGIPPKPP	PRLVWRASEP	GSRKARFGSE	KP