AiPD: Autoinhibited Protein Database

Q9UI40

Gene name	SLC24A2 (NCKX2)
Protein name	Sodium/potassium/calcium exchanger 2
Names	Na(+)/K(+)/Ca(2+)-exchange protein 2, Retinal cone Na-Ca+K exchanger, Solute carrier family 24 member 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:25769
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

281-364 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

281-364 (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 Q9UI40

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UI40-F1	Predicted				AlphaFoldDB

578 variants for Q9UI40

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5005533 rs766837386	6	S>I		No	ClinGen ExAC TOPMed gnomAD
CA373105714 rs766837386	6	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1322257870 CA373105705	7	T>I		No	ClinGen gnomAD
rs1201676359 CA373105703	8	T>A		No	ClinGen TOPMed gnomAD
CA5005532 rs551937214	9	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5005531 rs774196694	10	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1457982598 CA373105655	15	W>L		No	ClinGen gnomAD
rs962346334 CA191072999	16	C>Y		No	ClinGen Ensembl
rs1259589399 CA373105634	18	D>A		No	ClinGen gnomAD
rs763667183 CA5005530	18	D>E		No	ClinGen ExAC gnomAD
rs1275167189 CA373105616	21	L>M		No	ClinGen TOPMed gnomAD
CA373105615 rs1275167189	21	L>V		No	ClinGen TOPMed gnomAD
CA5005528 rs775089538	22	S>P		No	ClinGen ExAC gnomAD
rs530646192 CA191072998	27	H>Y		No	ClinGen 1000Genomes
CA5005524 rs770762155	28	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs866825895 CA191072997	29	S>N		No	ClinGen gnomAD
rs78119239 CA5005522	29	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5005521 rs758638449	31	K>Q		No	ClinGen ExAC gnomAD
CA373105549 rs1180558694	31	K>R		No	ClinGen TOPMed gnomAD
rs1461392326 CA373105543	32	K>E		No	ClinGen TOPMed
CA5005519 rs113482298	33	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5005520 rs113482298	33	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1181397055 CA373105529	34	L>Q		No	ClinGen TOPMed gnomAD
rs1181397055 CA373105527	34	L>R		No	ClinGen TOPMed gnomAD
rs1239413820	34	L>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA5005518 rs755438988	37	I>F		No	ClinGen ExAC gnomAD
rs754429867 CA373105504	38	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1260069416 CA373105503	38	R>P		No	ClinGen TOPMed gnomAD
CA373105502 rs1260069416	38	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	41	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA191072994 rs968668497	41	G>S		No	ClinGen TOPMed
rs766634534 CA5005516	41	G>V		No	ClinGen ExAC gnomAD
rs756587577 CA373105482	42	L>F		No	ClinGen ExAC gnomAD
rs756587577 CA5005515	42	L>I		No	ClinGen ExAC gnomAD
rs756587577 CA373105483	42	L>V		No	ClinGen ExAC gnomAD
rs541296276 CA5005513	44	M>R		No	ClinGen ExAC gnomAD
rs541296276 CA5005514	44	M>T		No	ClinGen ExAC gnomAD
CA5005512 rs762696881	45	G>V		No	ClinGen ExAC
CA373105453 rs774856888	47	V>I		No	ClinGen ExAC gnomAD
rs774856888 CA5005511	47	V>L		No	ClinGen ExAC gnomAD
rs764859998 CA5005510	48	A>S		No	ClinGen ExAC gnomAD
CA373105442 rs1384621799	49	I>V		No	ClinGen gnomAD
rs1159804812 CA373105424	51	T>S		No	ClinGen TOPMed gnomAD
rs776666028 CA5005508	52	V>A		No	ClinGen ExAC gnomAD
rs1161093573 CA373105414	53	S>L		No	ClinGen gnomAD
rs760167985 CA5005506	56	I>L		No	ClinGen ExAC TOPMed gnomAD
rs760167985 CA191072992	56	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5005505 rs528511573	57	S>I		No	ClinGen ExAC TOPMed gnomAD
CA5005504 rs528511573	57	S>T		No	ClinGen ExAC TOPMed gnomAD
CA5005503 rs748472477	58	A>T		No	ClinGen ExAC gnomAD
rs778849255 CA5005502	61	E>K		No	ClinGen ExAC gnomAD
rs768832989 CA5005501	62	T>A		No	ClinGen ExAC gnomAD
CA191072991 rs772811786	62	T>I		No	ClinGen gnomAD
CA373105358 rs772811786	62	T>R		No	ClinGen gnomAD
CA5005500 rs749727563	63	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	64	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5005498 rs756712327	67	T>P		No	ClinGen ExAC gnomAD
CA5005497 rs750761220	69	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs369189392 CA5005496	70	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA373105296 rs1326236530	72	V>I		No	ClinGen TOPMed gnomAD
rs752442899 CA5005494	74	S>C		No	ClinGen ExAC gnomAD
CA5005493 rs764880453	74	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1424848292 CA373105277	75	G>R		No	ClinGen gnomAD
rs1300806398 CA373105273	75	G>V		No	ClinGen gnomAD
rs1267083435 CA373105266	77	R>G		No	ClinGen TOPMed
TCGA novel CA5005492 rs759041741	77	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
rs202194083 CA5005491	78	V>L		No	ClinGen ExAC TOPMed gnomAD
CA191072990 rs1009127911	79	A>T		No	ClinGen TOPMed
CA5005490 rs766243180	79	A>V		No	ClinGen ExAC gnomAD
CA5005489 rs559651080	81	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA373105239 rs1194089979	81	G>V		No	ClinGen TOPMed gnomAD
CA5005488 rs772990128	83	H>N		No	ClinGen ExAC gnomAD
CA373105229 rs772990128	83	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	84	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5005486 rs761922161	86	T>A		No	ClinGen ExAC gnomAD
rs1292060019 CA373105204	86	T>I		No	ClinGen TOPMed gnomAD
rs1292060019 CA373105206	86	T>S		No	ClinGen TOPMed gnomAD
CA373105181 rs1338944237	90	L>V		No	ClinGen TOPMed gnomAD
rs749341162 CA373105170	91	N>K		No	ClinGen ExAC gnomAD
CA5005483 rs541111492	91	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1437735116 CA373105167	92	D>H		No	ClinGen gnomAD
rs1437735116 CA373105166	92	D>Y		No	ClinGen gnomAD
rs903828774 CA191072989	93	K>E		No	ClinGen Ensembl
CA5005481 rs61745274	93	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770418299 CA5005480	95	L>V		No	ClinGen ExAC gnomAD
CA373105139 rs1407908580	96	D>G		No	ClinGen gnomAD
CA373105134 rs1399079750	97	Y>H		No	ClinGen gnomAD
rs757679768 CA5005477	99	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757679768 CA5005478	99	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs757679768 CA373105119	99	P>R		No	ClinGen ExAC TOPMed gnomAD
rs746434012 CA5005479	99	P>S		No	ClinGen ExAC gnomAD
CA373105116 rs1478294555	100	Q>*		No	ClinGen gnomAD
rs139756859 CA5005475	101	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754599679 CA5005474	102	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5005473 rs753277224	104	S>C		No	ClinGen ExAC TOPMed gnomAD
CA373105088 rs1265406192	105	K>E		No	ClinGen TOPMed
rs1258942463 CA373105081	106	E>K		No	ClinGen gnomAD
CA5005469 rs767269557	108	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5005470 rs148865349	108	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5005471 rs148865349	108	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5005468 rs761633257	109	S>C		No	ClinGen ExAC gnomAD
rs374993206 CA5005466	110	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370321620 CA373105056	110	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763092561 CA5005465	111	N>S		No	ClinGen ExAC gnomAD
rs1375432188 CA373105028	114	D>H		No	ClinGen gnomAD
CA5005464 rs145512747	115	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs746342226 CA5005462	116	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373105006 rs1403679006	117	Q>P		No	ClinGen TOPMed gnomAD
CA373105005 rs1403679006	117	Q>R		No	ClinGen TOPMed gnomAD
CA373104999 rs1415016607	118	G>E		No	ClinGen TOPMed gnomAD
rs777234390 CA5005461	118	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5005460 rs771363776	119	D>E		No	ClinGen ExAC gnomAD
rs1456380891 CA373104994	119	D>Y		No	ClinGen TOPMed
rs1056685720 CA191072987	120	Y>*		No	ClinGen TOPMed gnomAD
rs372667508 CA5005459	121	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5005457 rs754652179	122	K>E		No	ClinGen ExAC gnomAD
CA373104954 rs1211248446	125	F>L		No	ClinGen gnomAD
rs779517494 CA5005455	127	L>H		No	ClinGen ExAC gnomAD
CA373104933 rs1564101029	128	E>G		No	ClinGen Ensembl
rs749967092 CA5005453	129	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5005452 COSM182569 rs767444353	134	A>V	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA373104883 rs1248850176	135	I>N		No	ClinGen TOPMed
rs1044951324 CA191072984	136	I>M		No	ClinGen Ensembl
CA191072985 rs905129947	136	I>V		No	ClinGen gnomAD
TCGA novel	137	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341920763 CA373104854	140	I>T		No	ClinGen TOPMed
rs146417280 CA191072983	140	I>V		No	ClinGen ESP TOPMed
COSM1107670 rs1564100985 CA373104839	142	M>I	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	144	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763864342 CA5005450	145	M>L		No	ClinGen ExAC gnomAD
CA5005448 rs763243196	145	M>T		No	ClinGen ExAC gnomAD
CA5005449 rs763864342	145	M>V		No	ClinGen ExAC gnomAD
TCGA novel	146	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373104802 rs1360613604	147	I>M		No	ClinGen gnomAD
CA5005447 rs544012513	147	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5005446 rs765583397	148	A>D		No	ClinGen ExAC gnomAD
rs759640256 CA5005445	149	L>S		No	ClinGen ExAC gnomAD
CA373104785 rs1253300452	150	A>V		No	ClinGen TOPMed
TCGA novel	156	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5005444 rs776862804	158	V>F		No	ClinGen ExAC gnomAD
rs1443062392 CA373104720	160	S>T		No	ClinGen TOPMed gnomAD
CA373104701 rs1413342671	163	V>I		No	ClinGen gnomAD
rs576684405 CA5005443	165	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA373104667 rs1564100917	166	E>K		No	ClinGen Ensembl
CA373104638 rs1564100910	167	K>E		No	ClinGen Ensembl
CA373104625 rs1386987472	167	K>N		No	ClinGen gnomAD
rs1240676098 CA373104615	168	L>V		No	ClinGen gnomAD
rs1216564510 CA373104573	170	I>T		No	ClinGen gnomAD
TCGA novel	176	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5005439 rs748908582	177	A>G		No	ClinGen ExAC gnomAD
rs772373416 CA5005440	177	A>T		No	ClinGen ExAC gnomAD
CA191072982 rs941014938	178	T>I		No	ClinGen Ensembl
rs1311573389 CA373104377	180	M>L		No	ClinGen gnomAD
rs1228477820 CA373104326	182	A>T		No	ClinGen gnomAD
rs954757996 CA191072980	185	S>A		No	ClinGen Ensembl
TCGA novel	191	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373104124 rs1385580855	191	T>I		No	ClinGen TOPMed
CA373104122 rs1166260909	192	S>T		No	ClinGen TOPMed
rs368590535 CA5005436	194	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA373104053 rs1300190487	195	G>A		No	ClinGen gnomAD
CA5005434 rs757217199	196	V>A		No	ClinGen ExAC gnomAD
rs780575898 CA5005435	196	V>I		No	ClinGen ExAC gnomAD
CA5005432 rs763914629	197	F>S		No	ClinGen ExAC gnomAD
rs139419786 CA373103974	199	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs139419786 CA5005430	199	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs139419786 CA5005429	199	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA373103968 rs1265963053	199	A>V		No	ClinGen gnomAD
CA5005428 rs759841394	200	H>P		No	ClinGen ExAC gnomAD
CA191072978 rs975380093	201	S>N		No	ClinGen TOPMed gnomAD
CA373103892 CA5005427 rs147285634	202	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA191072977 rs922347829	202	N>S		No	ClinGen Ensembl
CA5005424 rs773633669	203	V>A		No	ClinGen ExAC TOPMed gnomAD
rs773633669 CA191072976	203	V>G		No	ClinGen ExAC TOPMed gnomAD
rs776025550 CA5005425	203	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	204	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1232858763 CA373103837	205	I>M		No	ClinGen TOPMed
rs772666006 CA5005423	205	I>V		No	ClinGen ExAC gnomAD
rs762117566 CA5005422	207	T>I		No	ClinGen ExAC TOPMed gnomAD
CA191072975 rs536907958	208	I>V		No	ClinGen 1000Genomes
TCGA novel	212	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1316721 rs745589601 CA5005419	214	F>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC
rs374188931 CA191072974	216	I>V		No	ClinGen ESP
TCGA novel	217	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770384909 CA5005417	220	I>T		No	ClinGen ExAC TOPMed gnomAD
CA5005416 rs746557146	222	M>L		No	ClinGen ExAC gnomAD
CA373104626 rs746557146	222	M>V		No	ClinGen ExAC gnomAD
rs1170500720 CA373104589	225	L>P		No	ClinGen gnomAD
rs758423198 CA5005414	228	R>T		No	ClinGen ExAC TOPMed gnomAD
CA5005413 rs752472622	230	I>V		No	ClinGen ExAC gnomAD
CA5005412 rs778917697	231	L>F		No	ClinGen ExAC gnomAD
CA373104514 rs1266105148	233	L>M		No	ClinGen gnomAD
rs1180537691 CA373104495	235	W>*		No	ClinGen gnomAD
CA5005409 rs766452988 CA373104498	235	W>R		No	ClinGen ExAC gnomAD
rs1255764169 CA373104481	236	W>*		No	ClinGen gnomAD
CA373104470 rs1197554683	237	P>L		No	ClinGen gnomAD
rs1259704689 CA373104463	238	L>V		No	ClinGen gnomAD
CA373104440 rs1459061832	240	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA373104430 rs1421479816	241	D>V		No	ClinGen TOPMed
CA5005407 rs750538110	246	I>T		No	ClinGen ExAC gnomAD
CA191072973 rs1026237775	246	I>V		No	ClinGen TOPMed gnomAD
rs767958883 CA5005406	249	L>V		No	ClinGen ExAC gnomAD
CA373104349 rs1371196624	250	I>V		No	ClinGen gnomAD
CA373104340 rs1330954451	251	M>V		No	ClinGen gnomAD
rs762315996 CA5005405	254	I>V		No	ClinGen ExAC gnomAD
rs142406429 CA5005404	255	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA373104290 rs1564100491	256	F>L		No	ClinGen Ensembl
CA373104287 rs1388530559	256	F>S		No	ClinGen TOPMed
rs1466023158 CA373104276	257	L>R		No	ClinGen gnomAD
CA5005403 rs769069340	257	L>V		No	ClinGen ExAC gnomAD
CA373104252 rs1433609943	260	V>I		No	ClinGen TOPMed
CA5005401 rs776104330	266	S>G		No	ClinGen ExAC TOPMed gnomAD
rs770636357 CA5005400	266	S>I		No	ClinGen ExAC gnomAD
CA373104177 rs770636357	266	S>N		No	ClinGen ExAC gnomAD
CA373104167 rs1177658757	267	L>W		No	ClinGen gnomAD
rs374744918 CA5005398	272	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA373104126 rs1482187298	272	A>P		No	ClinGen gnomAD
rs374744918 CA5005397	272	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs748153081 CA5005396	274	F>I		No	ClinGen ExAC TOPMed gnomAD
rs748153081 CA373104110	274	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	275	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267656135 CA373104067	278	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs754862190 CA5005394	280	M>V		No	ClinGen ExAC gnomAD
CA5005393 rs41313971	282	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1564100384 CA373104019	282	F>L		No	ClinGen Ensembl
rs200166326 COSM1107669 CA5005391	283	N>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
CA5005392 rs200166326	283	N>T		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA5005389 rs147283325	284	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147283325 CA5005388	284	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5005387 rs752112345	286	V>E		No	ClinGen ExAC gnomAD
TCGA novel	286	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs934850427 CA191072971	288	K>Q		No	ClinGen TOPMed
CA5005386 rs764613686	289	W>C		No	ClinGen ExAC gnomAD
CA373103953 rs763175594	290	V>L		No	ClinGen ExAC gnomAD
rs763175594 CA5005385	290	V>M		No	ClinGen ExAC gnomAD
rs1190201889 CA373103947	291	K>E		No	ClinGen TOPMed
CA5005384 rs775933946	292	Q>*		No	ClinGen ExAC gnomAD
CA5005383 rs143987054	292	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1305134018 CA373103906	294	I>M		No	ClinGen gnomAD
rs79471093 CA5005382	296	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5005380 rs771755386	296	R>H		No	ClinGen ExAC TOPMed gnomAD
rs771755386 CA5005381	296	R>L		No	ClinGen ExAC TOPMed gnomAD
rs748069224 CA5005379	297	N>S		No	ClinGen ExAC gnomAD
rs774393366 CA373103869	299	V>F		No	ClinGen ExAC gnomAD
CA5005378 rs774393366	299	V>I		No	ClinGen ExAC gnomAD
rs139901121 CA373103861	300	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA5005376 rs139901121	300	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1161943179 CA373103849	301	K>R		No	ClinGen TOPMed
CA373103844 rs1441651151	302	V>M		No	ClinGen gnomAD
rs147523526 CA5005375	303	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs756290261 CA373103828	304	A>S		No	ClinGen ExAC TOPMed gnomAD
rs756290261 CA5005374	304	A>T		No	ClinGen ExAC TOPMed gnomAD
CA373103813 rs1564100244	305	P>R		No	ClinGen Ensembl
rs746162610 CA5005373	307	A>G		No	ClinGen ExAC gnomAD
CA191072969 rs377522340 COSM608532	307	A>T	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed
rs777895731 CA5005350	311	P>S		No	ClinGen ExAC gnomAD
CA5005349 rs758817806	313	A>S		No	ClinGen ExAC gnomAD
rs1402350017 CA373103187	315	R>S		No	ClinGen gnomAD
CA373103152 rs1327717718	320	P>A		No	ClinGen gnomAD
rs753295123 CA5005348	320	P>L		No	ClinGen ExAC TOPMed gnomAD
CA373103147 rs1587051985	321	T>A		No	ClinGen Ensembl
CA373103144 rs1390988557	321	T>S		No	ClinGen gnomAD
rs767221182 CA5005344	323	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5005345 rs754279442	323	P>S		No	ClinGen ExAC gnomAD
CA5005319 rs199744137	326	P>L	Variant assessed as Somatic; 9.246e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA373103104 rs199744137	326	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5005320 rs765153053	326	P>S		No	ClinGen ExAC gnomAD
CA191049969 rs1056820239	327	R>C		No	ClinGen TOPMed gnomAD
CA5005317 COSM126216 rs770762176	327	R>H	upper_aerodigestive_tract Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1331865713 CA373103089	329	Q>L		No	ClinGen gnomAD
CA373103084 rs1444111756	330	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5005315 rs773442046	330	R>Q		No	ClinGen ExAC gnomAD
CA5005314 rs772207802	331	G>D		No	ClinGen ExAC gnomAD
CA373103047 rs1564001382	336	S>F		No	ClinGen Ensembl
rs748202875 CA5005313	342	M>L		No	ClinGen ExAC gnomAD
CA373103008 rs748202875	342	M>V		No	ClinGen ExAC gnomAD
TCGA novel	343	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373102983 rs1156909663	345	S>C		No	ClinGen gnomAD
rs1161484527 CA373102976	346	I>V		No	ClinGen TOPMed gnomAD
rs1482489263 CA373102959	348	Q>L		No	ClinGen gnomAD
rs1564001354 CA373102928	352	H>R		No	ClinGen Ensembl
CA373102924 rs1452943239 COSM3848232	353	T>P	breast [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1211485896 CA373102920	353	T>S		No	ClinGen gnomAD
CA5005308 rs756589654	354	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1362539873 CA373102915	354	L>H		No	ClinGen TOPMed
CA191049967 rs749974780	355	D>N		No	ClinGen Ensembl
CA5005307 rs746253497	358	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM258754 rs757988035 CA5005305	359	E>K	large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA373102553 rs1445042983	364	Y>*		No	ClinGen TOPMed
rs767275240 CA5005279	364	Y>C		No	ClinGen ExAC gnomAD
CA5005278 rs762076720	366	K>T		No	ClinGen ExAC gnomAD
CA5005277 rs774480159	369	Y>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	370	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	370	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336708309 CA373102515	370	Y>S		No	ClinGen gnomAD
COSM1107668 rs1388253705 CA373102506	371	D>G	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA191047108 rs751587069	374	T>I		No	ClinGen Ensembl
rs375119876 CA5005255	377	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1586987276 CA373103696	380	R>K		No	ClinGen Ensembl
TCGA novel	383	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763329931 CA5005254	384	S>T		No	ClinGen ExAC gnomAD
rs889450250 CA191044370	386	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs765279330 CA5005252	386	L>P		No	ClinGen ExAC gnomAD
CA191044369 rs965465826	387	H>Q		No	ClinGen Ensembl
CA5005251 rs760053476	388	K>R		No	ClinGen ExAC gnomAD
rs760889415 CA5005250	389	I>M		No	ClinGen ExAC TOPMed gnomAD
rs773571413 CA5005247	390	A>T		No	ClinGen ExAC gnomAD
rs1482871876 CA373103602	394	C>G		No	ClinGen gnomAD
TCGA novel	395	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373103574 rs763662256	398	E>K		No	ClinGen gnomAD
rs763662256 CA191044368	398	E>Q		No	ClinGen gnomAD
rs1168110017 CA373103570	398	E>V		No	ClinGen TOPMed
CA5005244 rs779519139	399	N>D		No	ClinGen ExAC gnomAD
CA5005243 CA373103562 rs369337900	399	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs571252255 CA373103561	400	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5005242 rs571252255	400	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA191044367 rs571252255	400	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5005240 rs757235686	401	R>K		No	ClinGen ExAC TOPMed gnomAD
CA191044366 rs2383101	401	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel rs1260428109 CA373103544	402	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs1396011368 CA373103538	403	N>S		No	ClinGen gnomAD
rs1376587297 CA373103533	404	G>R		No	ClinGen gnomAD
CA5005239 rs751391521	405	A>P		No	ClinGen ExAC TOPMed gnomAD
CA373103524 rs1436057101	405	A>V		No	ClinGen gnomAD
rs1358016610 CA373103518	406	A>V		No	ClinGen gnomAD
rs758669345 CA5005237	408	H>D		No	ClinGen ExAC TOPMed gnomAD
CA373103508 rs758669345	408	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA5005236 rs753004230	409	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1321206354 CA373103477	410	E>D		No	ClinGen gnomAD
rs200582671 CA5005186	412	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775977653 CA191043857	413	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5005184 rs770602528	414	L>V		No	ClinGen ExAC TOPMed gnomAD
CA373103446 rs375656388	415	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5005183 rs375656388	415	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368681056 CA191043856	417	S>N		No	ClinGen Ensembl
CA373103429 rs1345720665	418	T>A		No	ClinGen TOPMed
rs1440152055 CA373103427	418	T>I		No	ClinGen TOPMed
CA373103420 rs1476444331	419	S>N		No	ClinGen gnomAD
CA5005181 rs772147523	420	T>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs533180167 CA191043854	421	D>A		No	ClinGen gnomAD
CA373103410 rs1372962670	421	D>H		No	ClinGen TOPMed
CA191043853 rs980532819	422	V>A		No	ClinGen gnomAD
rs140929864 CA5005180	422	V>I		No	ClinGen ESP ExAC gnomAD
rs181643535 CA191043852	424	M>I		No	ClinGen 1000Genomes gnomAD
CA373103389 rs577006131	424	M>K		No	ClinGen 1000Genomes ExAC gnomAD
rs577006131 CA5005178	424	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs376985006 CA5005177	425	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs779968925 CA5005176	426	P>L		No	ClinGen ExAC gnomAD
rs756147803 CA5005175	428	S>N		No	ClinGen ExAC gnomAD
rs191759600 CA5005174	429	D>A		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA373103357 rs1371264689	429	D>E		No	ClinGen gnomAD
CA5005173 rs191759600	429	D>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA5005172 rs757770140	431	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA373103341 rs1444321677	432	E>G		No	ClinGen gnomAD
CA191043851 rs1029776694	433	P>H		No	ClinGen TOPMed gnomAD
CA5005171 rs751869966	433	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA373103336 rs751869966	433	P>T		No	ClinGen ExAC gnomAD
rs138763500 CA191043850	434	V>G		No	ClinGen 1000Genomes
rs1400214825 CA373103324	435	Q>R		No	ClinGen gnomAD
rs145253618 CA191043849	437	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
TCGA novel	439	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs902054242 CA191043848	439	L>V		No	ClinGen gnomAD
CA5005169 rs759076562	440	S>P		No	ClinGen ExAC gnomAD
rs1397122016 CA373103286	441	H>P		No	ClinGen gnomAD
CA5005168 rs776304021	441	H>Q		No	ClinGen ExAC gnomAD
CA373103282 rs1374591971	442	N>D		No	ClinGen gnomAD
rs148811778 CA373103278	442	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148811778 CA5005167	442	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs542962840 CA5005164	443	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772851343 CA5005165	443	I>V		No	ClinGen ExAC gnomAD
CA373103270 rs1275965902	444	E>K		No	ClinGen gnomAD
rs1209523460 CA373103261	445	G>R		No	ClinGen gnomAD
rs761868205 CA5005163	446	A>S		No	ClinGen ExAC TOPMed gnomAD
CA373103238 rs1199073301	448	A>V		No	ClinGen TOPMed
CA373103231 rs1231969541	449	Q>H		No	ClinGen TOPMed
CA373103233 rs1305203019	449	Q>R		No	ClinGen gnomAD
rs375331527	450	T>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755805473 CA5005128	450	T>I		No	ClinGen ExAC gnomAD
CA373102867 rs1586941000	450	T>P		No	ClinGen Ensembl
rs755805473 CA373102863	450	T>S		No	ClinGen ExAC gnomAD
rs762666179 CA373102861	451	A>S		No	ClinGen ExAC TOPMed gnomAD
rs762666179 CA5005126	451	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5005125 rs761339159	451	A>V		No	ClinGen ExAC TOPMed gnomAD
CA373102855 rs1315012534	452	D>G		No	ClinGen TOPMed
CA5005124 rs751047380	452	D>N		No	ClinGen ExAC TOPMed gnomAD
CA373102847 rs1488066132 CA373102846	453	E>D		No	ClinGen TOPMed
rs762868604 CA5005123	453	E>K		No	ClinGen ExAC TOPMed gnomAD
rs762868604 CA5005122	453	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA373102838 rs1214067449 CA373102839	454	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA373102844 rs1276458113	454	E>K		No	ClinGen gnomAD
CA373102843 rs1276458113	454	E>Q		No	ClinGen gnomAD
rs370384043 CA373102831	455	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA373102826 rs112509799	456	D>A		No	ClinGen gnomAD
rs112509799 CA191039689	456	D>G		No	ClinGen gnomAD
CA373102827 rs1586940904	456	D>N		No	ClinGen Ensembl
rs1455624570 CA373102822	457	Q>K		No	ClinGen TOPMed
CA373102795 rs771069335	460	S>R		No	ClinGen ExAC gnomAD
rs1394266336 CA373102793	461	L>V		No	ClinGen gnomAD
CA5005114 rs773230360	462	A>D		No	ClinGen ExAC gnomAD
rs747042081 CA5005115	462	A>P		No	ClinGen ExAC gnomAD
COSM1624838 CA373102785 rs773230360	462	A>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5005113 rs772618600	463	W>*		No	ClinGen ExAC
TCGA novel	464	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5005112 rs748713256	465	S>A		No	ClinGen ExAC gnomAD
CA373102766 rs1419559288	465	S>F		No	ClinGen gnomAD
CA191039688 rs368095545	467	T>I		No	ClinGen ESP TOPMed
CA373102755 rs1375824392	467	T>S		No	ClinGen gnomAD
CA5005109 rs780842183	468	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5005106 rs145624570	468	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3952612 CA5005107 rs145624570	468	R>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5005108 rs780842183	468	R>S		No	ClinGen ExAC TOPMed gnomAD
CA373102741 rs1307807342	470	Q>E		No	ClinGen TOPMed
CA5005103 rs375176445	470	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA373102726 rs1308192170	472	T>M		No	ClinGen TOPMed gnomAD
rs373402383 CA5005100	475	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA373102708 rs1370517052	475	I>V		No	ClinGen gnomAD
CA191039686 rs1040990081	476	V>A		No	ClinGen TOPMed
CA191039685 rs944987167	477	F>L		No	ClinGen TOPMed gnomAD
rs577897150 CA5005099	477	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs577897150 CA5005098	477	F>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA373102690 rs1563955947	478	P>R		No	ClinGen Ensembl
rs772085027 CA5005096	480	V>E		No	ClinGen ExAC gnomAD
rs936569948 CA191039684	482	P>R		No	ClinGen Ensembl
CA191039682 rs923790873	483	L>V		No	ClinGen Ensembl
CA5005095 rs748269753	484	W>R		No	ClinGen ExAC TOPMed gnomAD
CA5005094 rs774951362	485	I>F		No	ClinGen ExAC TOPMed gnomAD
rs977853370 CA191039681	486	T>M		No	ClinGen Ensembl
rs562795625 CA5005089	487	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1107665 CA5005088 rs777508100	488	P>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1248105844 CA373102623	489	D>V		No	ClinGen TOPMed gnomAD
rs573961700 CA5005086	490	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373102619 rs573961700	490	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3433061 CA373102613 rs1418543934	491	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs200870934 CA5005083	491	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5005084 rs200870934	491	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5005085 rs200870934	491	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA373102601 rs766135341	493	P>H		No	ClinGen ExAC gnomAD
rs766135341 CA5005082	493	P>L		No	ClinGen ExAC gnomAD
rs375718862 CA5005063	495	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1413566697 CA373102430	497	K>T		No	ClinGen TOPMed
CA5005061 rs767789215	498	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5005059 rs751682137	499	F>S		No	ClinGen ExAC TOPMed gnomAD
CA5005060 rs762182033	499	F>V		No	ClinGen ExAC gnomAD
TCGA novel	500	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1295576214 CA373102399	501	I>M		No	ClinGen gnomAD
CA191035786 rs375949320	502	T>M		No	ClinGen ESP TOPMed gnomAD
rs1015433446 CA191035787	502	T>P		No	ClinGen Ensembl
TCGA novel rs763528419 CA5005057	503	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA373102382 rs1382404529	504	F>C		No	ClinGen gnomAD
CA373102378 rs1286632596	505	G>R		No	ClinGen TOPMed
rs775824450 CA5005056	505	G>V		No	ClinGen ExAC gnomAD
rs770342293 CA5005055	507	I>N		No	ClinGen ExAC gnomAD
rs1418493915 CA373102343	510	I>T		No	ClinGen gnomAD
rs1168921989 CA373102338	511	A>S		No	ClinGen gnomAD
CA5005054 rs759765424	511	A>V		No	ClinGen ExAC gnomAD
rs1474483195 CA373102335	512	V>I		No	ClinGen gnomAD
TCGA novel	513	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5005053 rs777114566	515	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA5005052 rs771710603	516	L>W		No	ClinGen ExAC gnomAD
rs778374435 CA5005050 CA373102296 CA5005051	517	M>I		No	ClinGen ExAC gnomAD
rs1262620628 CA373102295	518	V>I		No	ClinGen gnomAD
rs1213462320 CA373102283	519	W>C		No	ClinGen gnomAD
CA373102269 rs1469136721	521	A>S		No	ClinGen gnomAD
COSM287633 CA373102266 rs1275622190	521	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA373102260 rs1437564510	522	H>L		No	ClinGen TOPMed
CA373047538 rs1400159047	524	V>A		No	ClinGen gnomAD
CA373047527 rs1563928654	526	E>A		No	ClinGen Ensembl
CA373047530 rs1423846314	526	E>Q		No	ClinGen TOPMed
CA190535449 rs976219485	527	T>I		No	ClinGen TOPMed
rs976219485 CA373047519	527	T>K		No	ClinGen TOPMed
rs781108956 CA373047513	528	I>S		No	ClinGen ExAC gnomAD
rs781108956 CA5005022	528	I>T		No	ClinGen ExAC gnomAD
CA373047516 rs1173698865	528	I>V		No	ClinGen TOPMed
CA373047508 rs1407641146	529	G>D		No	ClinGen TOPMed
CA373047511 rs1427765439	529	G>S		No	ClinGen gnomAD
rs573307561 CA5005021	531	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1469888193 CA373047472	534	I>S		No	ClinGen gnomAD
CA5005020 rs776789428	539	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	542	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373047398 rs1483770648	546	I>V		No	ClinGen gnomAD
CA5005017 rs199869310	549	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA5005015 rs755418671	550	I>T		No	ClinGen ExAC gnomAD
rs1221870504 CA373047363	551	T>S		No	ClinGen gnomAD
CA373047353 rs1349617165	553	V>I		No	ClinGen gnomAD
rs1411550665 CA373047343	554	I>T		No	ClinGen gnomAD
CA5005013 rs766903576	554	I>V		No	ClinGen ExAC gnomAD
rs1563928543 CA373047337	555	V>A		No	ClinGen Ensembl
rs760962385 CA5005012 COSM1107663	557	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	557	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs575461406 CA5005011	557	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5005010 rs763638997	558	K>N		No	ClinGen ExAC gnomAD
CA5005009 rs762732246	559	G>R		No	ClinGen ExAC gnomAD
CA373047314 rs1586881899	560	L>V		No	ClinGen Ensembl
rs774828462 CA5005008	564	A>V		No	ClinGen ExAC gnomAD
CA190535378 rs78486670	565	V>G		No	ClinGen Ensembl
rs1019501779 CA190535367	566	S>T		No	ClinGen TOPMed
TCGA novel	572	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	573	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	573	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186604513 CA373047191	578	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	580	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199768014 CA190531686	581	P>A		No	ClinGen 1000Genomes
TCGA novel	583	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5004979 TCGA novel rs572958979	584	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA
rs371020825 CA5004978	585	L>I		No	ClinGen ESP ExAC gnomAD
TCGA novel	586	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373047128 rs1586872885	586	L>P		No	ClinGen Ensembl
TCGA novel	587	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1586872878 CA373047118	588	T>P		No	ClinGen Ensembl
TCGA novel	589	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373047111 rs781570322	589	V>F		No	ClinGen ExAC TOPMed gnomAD
CA5004975 rs781570322	589	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1232141360 CA373047096	591	H>R		No	ClinGen gnomAD
TCGA novel	591	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1230144899 CA373047090	592	R>K		No	ClinGen TOPMed
rs757597866 CA5004974	592	R>S		No	ClinGen ExAC gnomAD
CA190531603 rs866322189	593	F>L		No	ClinGen Ensembl
rs1252115682 CA373047084	593	F>S		No	ClinGen gnomAD
CA5004972 rs764933698	595	P>A		No	ClinGen ExAC gnomAD
CA373047066 rs1249763803	596	V>M		No	ClinGen gnomAD
CA373047058 rs1203923242	597	A>S		No	ClinGen gnomAD
CA373047055 rs1342894669	597	A>V		No	ClinGen gnomAD
CA373047049 rs1586872800	598	V>G		No	ClinGen Ensembl
rs916311640 CA190531592	600	S>N		No	ClinGen TOPMed gnomAD
RCV001258266 rs61745273 CA5004970 RCV000514875	601	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA373047018 rs1370781130	603	L>F		No	ClinGen gnomAD
CA373047020 rs1370781130	603	L>I		No	ClinGen gnomAD
rs760284988 CA5004968	606	A>T		No	ClinGen ExAC gnomAD
rs774398641 CA190531573	607	I>V		No	ClinGen gnomAD
CA5004966 rs374018366	608	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1432455794 CA373046980	609	L>F		No	ClinGen gnomAD
TCGA novel	610	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774071028 CA5004964	612	I>V		No	ClinGen ExAC gnomAD
rs199990362 CA5004960	617	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs199990362 CA5004961	617	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA373046915 rs1483443674	619	L>F		No	ClinGen gnomAD
CA373046907 rs1209064480	620	S>C		No	ClinGen gnomAD
CA5004958 rs142273687	621	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs747399989 CA5004956	622	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA373046894 rs778041995	623	L>I		No	ClinGen ExAC gnomAD
CA5004955 rs778041995	623	L>V		No	ClinGen ExAC gnomAD
CA5004954 rs753494083	624	C>F		No	ClinGen ExAC gnomAD
CA373046888 rs1315455765	624	C>G		No	ClinGen gnomAD
rs1439229684 CA373046884	624	C>W		No	ClinGen gnomAD
CA5004953 rs753494083	624	C>Y		No	ClinGen ExAC gnomAD
CA5004950 rs749916427	627	R>L		No	ClinGen ExAC TOPMed gnomAD
rs749916427 CA5004951 COSM3699634	627	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1412617579 CA373046860	628	M>R		No	ClinGen gnomAD
CA373046861 rs1309306022	628	M>V		No	ClinGen gnomAD
CA373046830 rs1251001226	632	L>M		No	ClinGen gnomAD
CA373046821 rs1467416730	633	G>A		No	ClinGen TOPMed gnomAD
rs1194318975 CA373046805	635	I>M		No	ClinGen TOPMed
rs1486533162 CA373046810	635	I>V		No	ClinGen TOPMed
rs1414366321 CA373046802	636	M>T		No	ClinGen gnomAD
CA5004947 rs774162676	636	M>V		No	ClinGen ExAC gnomAD
TCGA novel	637	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373046759 CA5004944 rs775647494	642	V>L		No	ClinGen ExAC gnomAD
CA5004941 rs200106604	647	S>G		No	ClinGen ExAC gnomAD
rs747521087 CA5004939	648	V>I		No	ClinGen ExAC TOPMed gnomAD
CA190531429 rs747521087	648	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	649	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373046710 rs1397390288	650	L>P		No	ClinGen gnomAD
rs748529310 CA5004936	651	E>A		No	ClinGen ExAC gnomAD
rs1319634318 CA373046708	651	E>K		No	ClinGen gnomAD
CA373046707 rs1319634318	651	E>Q		No	ClinGen gnomAD
rs1563924386 CA373046691	653	R>K		No	ClinGen Ensembl
CA5004935 rs150269980	654	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs954234045 CA373046680	655	L>F		No	ClinGen TOPMed gnomAD
CA190531403 COSM3433060 rs954234045	655	L>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs755889613 CA5004934	656	T>I		No	ClinGen ExAC gnomAD
TCGA novel	658	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA373046661 rs898385986	658	P>S		No	ClinGen TOPMed gnomAD
CA190531395 rs898385986	658	P>T		No	ClinGen TOPMed gnomAD
rs764046843 CA5004929	659	V>A		No	ClinGen ExAC TOPMed gnomAD
rs764046843 CA373046655	659	V>D		No	ClinGen ExAC TOPMed gnomAD
CA5004930 rs138630242 COSM358039	659	V>I	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs138630242 CA5004931	659	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	660	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA190531391 rs375446147	661	I>V		No	ClinGen ESP TOPMed

No associated diseases with Q9UI40

2 regional properties for Q9UI40

Type	Name	Position	InterPro Accession
domain	Sodium/calcium exchanger membrane region	139 - 280	IPR004837-1
domain	Sodium/calcium exchanger membrane region	499 - 648	IPR004837-2

Functions

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

3 GO annotations of cellular component

Name	Definition
integral component of plasma membrane	The component of the plasma 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.
photoreceptor inner segment	The inner segment of a vertebrate photoreceptor containing mitochondria, ribosomes and membranes where opsin molecules are assembled and passed to be part of the outer segment discs.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
calcium channel activity	Enables the facilitated diffusion of a calcium ion (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
calcium, potassium:sodium antiporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Ca2+(in) + K+(in) + Na+(out) = Ca2+(out) + K+(out) + Na+(in).
symporter activity	Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy.

14 GO annotations of biological process

Name	Definition
calcium ion import	The directed movement of calcium ions into a cell or organelle.
calcium ion import across plasma membrane	The directed movement of calcium ions from outside of a cell, across the plasma membrane and into the cytosol.
calcium ion transmembrane transport	A process in which a calcium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore.
cellular calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell.
cellular response to high light intensity	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a high light intensity stimulus.
cone photoresponse recovery	The processes required for a cone photoreceptor to recover, following light activation, so that it can respond to a subsequent light stimulus. Cone recovery requires the shutoff of active participants in the phototransduction cascade, including the visual pigment and downstream signal transducers.
ion transmembrane transport	A process in which an ion is transported across a membrane.
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.
long-term synaptic depression	A process that modulates synaptic plasticity such that synapses are changed resulting in the decrease in the rate, or frequency of synaptic transmission at the synapse.
long-term synaptic potentiation	A process that modulates synaptic plasticity such that synapses are changed resulting in the increase in the rate, or frequency of synaptic transmission at the synapse.
phototransduction	The sequence of reactions within a cell required to convert absorbed photons into a molecular signal.
potassium ion transmembrane transport	A process in which a potassium ion is transported from one side of a membrane to the other.
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.
visual perception	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9HC58	SLC24A3	Sodium/potassium/calcium exchanger 3	Homo sapiens (Human)	PR
Q8CGQ8	Slc24a4	Sodium/potassium/calcium exchanger 4	Mus musculus (Mouse)	PR
Q99PD7	Slc24a3	Sodium/potassium/calcium exchanger 3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDLQQSTTIT	SLEKWCLDES	LSGCRRHYSV	KKKLKLIRVL	GLFMGLVAIS	TVSFSISAFS
70	80	90	100	110	120
ETDTQSTGEA	SVVSGPRVAQ	GYHQRTLLDL	NDKILDYTPQ	PPLSKEGESE	NSTDHAQGDY
130	140	150	160	170	180
PKDIFSLEER	RKGAIILHVI	GMIYMFIALA	IVCDEFFVPS	LTVITEKLGI	SDDVAGATFM
190	200	210	220	230	240
AAGGSAPELF	TSLIGVFIAH	SNVGIGTIVG	SAVFNILFVI	GMCALFSREI	LNLTWWPLFR
250	260	270	280	290	300
DVSFYIVDLI	MLIIFFLDNV	IMWWESLLLL	TAYFCYVVFM	KFNVQVEKWV	KQMINRNKVV
310	320	330	340	350	360
KVTAPEAQAK	PSAARDKDEP	TLPAKPRLQR	GGSSASLHNS	LMRNSIFQLM	IHTLDPLAEE
370	380	390	400	410	420
LGSYGKLKYY	DTMTEEGRFR	EKASILHKIA	KKKCHVDENE	RQNGAANHVE	KIELPNSTST
430	440	450	460	470	480
DVEMTPSSDA	SEPVQNGNLS	HNIEGAEAQT	ADEEEDQPLS	LAWPSETRKQ	VTFLIVFPIV
490	500	510	520	530	540
FPLWITLPDV	RKPSSRKFFP	ITFFGSITWI	AVFSYLMVWW	AHQVGETIGI	SEEIMGLTIL
550	560	570	580	590	600
AAGTSIPDLI	TSVIVARKGL	GDMAVSSSVG	SNIFDITVGL	PLPWLLYTVI	HRFQPVAVSS
610	620	630	640	650	660
NGLFCAIVLL	FIMLLFVILS	IALCKWRMNK	ILGFIMFGLY	FVFLVVSVLL	EDRILTCPVS

I