AiPD: Autoinhibited Protein Database

O15439

Gene name	ABCC4 (MOATB, MRP4)
Protein name	ATP-binding cassette sub-family C member 4
Names	MRP/cMOAT-related ABC transporter, Multi-specific organic anion transporter B, MOAT-B, Multidrug resistance-associated protein 4
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10257
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

608-704 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

608-704 (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

11 structures for O15439

Entry ID	Method	Resolution	Chain	Position	Source
8BJF	EM	300 A	A	1-1325	PDB
8BWO	EM	320 A	A	1-1325	PDB
8BWP	EM	360 A	A	1-1325	PDB
8BWQ	EM	390 A	A	1-1325	PDB
8BWR	EM	400 A	A	1-1325	PDB
8I4A	EM	340 A	A	1-1325	PDB
8I4B	EM	313 A	A	1-1325	PDB
8I4C	EM	308 A	A	1-1325	PDB
8J3W	EM	307 A	A	1-1325	PDB
8J3Z	EM	317 A	A	1-1325	PDB
AF-O15439-F1	Predicted				AlphaFoldDB

974 variants for O15439

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs193921134 RCV000149047 CA174177	549	V>L	Malignant tumor of prostate [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA348743 RCV000204521 rs781305510	891	R>L	Malignant tumor of prostate [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7019993 rs777538351	3	P>L		No	ClinGen ExAC gnomAD
rs777538351 CA388470799	3	P>R		No	ClinGen ExAC gnomAD
CA7019990 rs140957166	4	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1008402930 CA255108338	5	Y>H		No	ClinGen TOPMed gnomAD
CA388470782 rs755197392	6	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA7019989 rs755197392	6	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7019988 rs754056946	7	E>V		No	ClinGen ExAC TOPMed gnomAD
CA7019986 rs756450259	8	V>M		No	ClinGen ExAC gnomAD
rs767944183 CA7019984	10	P>R		No	ClinGen ExAC TOPMed gnomAD
CA388470750 rs1275748455	11	N>S		No	ClinGen gnomAD
CA388470744 rs1303926555	12	P>S		No	ClinGen TOPMed
CA7019980 rs764795054	15	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1566613743 CA388470707	17	N>K		No	ClinGen Ensembl
CA388470705 rs11568681	18	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7019979 rs11568681 VAR_046445	18	L>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776398586 CA7019978	21	R>C		No	ClinGen ExAC gnomAD
rs770888403 CA7019977	23	F>S		No	ClinGen ExAC gnomAD
CA388403542 rs1454956307	25	W>*		No	ClinGen gnomAD
rs1454956307 CA388403540	25	W>C		No	ClinGen gnomAD
rs765931057 CA7019921	26	W>*		No	ClinGen ExAC gnomAD
rs765931057 CA388403533	26	W>C		No	ClinGen ExAC gnomAD
TCGA novel	26	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388403521 rs1176985764	28	N>S		No	ClinGen gnomAD
CA388403484 rs1457422742	33	I>T		No	ClinGen gnomAD
TCGA novel	35	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7019918 rs767254775	37	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7019919 rs371717293	37	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7019915 rs748429503	42	D>V		No	ClinGen ExAC gnomAD
CA388403405 rs1334678519	44	M>I		No	ClinGen gnomAD
CA7019913 rs775555726	46	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1019704068 CA254234810	46	S>P		No	ClinGen Ensembl
CA7019911 rs746119496	47	V>L		No	ClinGen ExAC TOPMed gnomAD
rs776893694 CA7019910	50	E>K		No	ClinGen ExAC gnomAD
CA388403367 rs747434414	51	D>H		No	ClinGen ExAC TOPMed gnomAD
CA7019908 rs747434414	51	D>N		No	ClinGen ExAC TOPMed gnomAD
CA388403366 rs747434414	51	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA7019907 rs577370049	52	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7019906 rs142182014	52	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1287415185 CA388403351	53	S>L		No	ClinGen TOPMed
CA388403330 rs1254069714	56	L>R		No	ClinGen gnomAD
CA388403328 rs755618240 CA7019903	57	G>R		No	ClinGen ExAC gnomAD
CA7019902 rs750090012	59	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	59	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757686692 CA254234728	60	L>F		No	ClinGen TOPMed
CA388403302 rs1473249928	61	Q>E		No	ClinGen TOPMed
rs1566566395 CA388403292	62	G>E		No	ClinGen Ensembl
CA388403294 rs780497694	62	G>R		No	ClinGen TOPMed gnomAD
rs780497694 CA254234720	62	G>W		No	ClinGen TOPMed gnomAD
CA7019872 rs773536996	63	F>L		No	ClinGen ExAC gnomAD
CA388403220 rs1458725696	66	K>E		No	ClinGen TOPMed gnomAD
CA388403189 rs1251955832	68	V>L		No	ClinGen gnomAD
CA388403153 rs1336286481	71	A>T		No	ClinGen gnomAD
rs556194310 CA7019870	73	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs749794429 CA254234078	74	D>G		No	ClinGen Ensembl
CA254234077 rs942624721	75	A>T		No	ClinGen TOPMed
VAR_029121 CA7019866 rs11568689	78	P>A		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs368599747 CA7019865	78	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs11568689 CA7019867	78	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	79	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs548137580 CA254234043	82	R>G		No	ClinGen 1000Genomes gnomAD
CA7019862 rs373968598	82	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747943559 CA7019861	83	A>T		No	ClinGen ExAC gnomAD
CA388402961 rs1169391019	85	I>T		No	ClinGen gnomAD
rs967446669 CA254234039	86	K>N		No	ClinGen Ensembl
rs1057376139 CA254234038	87	C>S		No	ClinGen TOPMed
rs527853384 CA254234031	88	Y>S		No	ClinGen 1000Genomes gnomAD
rs548353161 CA7019858	94	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA7019859 rs755002359	94	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1230621037 CA388402804	97	I>V		No	ClinGen gnomAD
rs149058757 CA7019856	99	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA254234023 rs149058757	99	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1217879718 CA388402760	100	L>*		No	ClinGen gnomAD
CA7019840 rs778835635	106	K>E		No	ClinGen ExAC gnomAD
TCGA novel	106	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1306522244 CA388401645	111	I>T		No	ClinGen gnomAD
CA388401638 rs1196535055	112	F>Y		No	ClinGen TOPMed
CA388401619 rs1594350752	115	K>E		No	ClinGen Ensembl
rs779877173 CA7019837	117	I>M		No	ClinGen ExAC
rs1566553891 CA611887534	119	Y>*		No	ClinGen Ensembl
CA388401587 rs1438216408	119	Y>C		No	ClinGen gnomAD
TCGA novel	119	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs534027214 CA7019835	120	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA7019834 rs750534208	122	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1412793072 CA388401542	125	P>H		No	ClinGen gnomAD
rs377013315 CA254224057	126	M>I		No	ClinGen Ensembl
rs1369848704 CA388401538	126	M>V		No	ClinGen gnomAD
rs1313216777 CA388401495	132	N>T		No	ClinGen gnomAD
CA388401486 rs1436317435	133	T>R		No	ClinGen gnomAD
CA254224054 rs929768802	134	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	135	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764555345 CA7019830	136	A>G		No	ClinGen ExAC TOPMed gnomAD
CA388401471 rs1400854469	136	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7019829 rs763252669	137	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7019828 rs753068474	138	A>D		No	ClinGen ExAC
CA7019827 rs765741241	139	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388401445 rs1216684109	140	V>A		No	ClinGen gnomAD
rs1260428787 CA388401448	140	V>M		No	ClinGen TOPMed gnomAD
rs1271294714 CA388401433	142	T>I		No	ClinGen gnomAD
CA388401427 rs1334112656	143	F>C		No	ClinGen gnomAD
rs771567391 CA7019824	144	C>*		No	ClinGen ExAC
CA7019825 rs772768710	144	C>R		No	ClinGen ExAC gnomAD
rs1416455412 CA388401416	145	T>A		No	ClinGen gnomAD
rs149867748 CA7019823	145	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388401413 rs1430939668	146	L>F		No	ClinGen TOPMed gnomAD
rs1430939668 CA388401411	146	L>V		No	ClinGen TOPMed gnomAD
rs1346480183 CA388401406	147	I>V		No	ClinGen gnomAD
CA388401387 rs199805372	150	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA254223989 rs139097120	150	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs569896075 CA254223997	150	I>T		No	ClinGen 1000Genomes
rs199805372 CA7019821	150	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs745785051 CA7019817	159	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1261399221 CA388401220	160	Q>*		No	ClinGen gnomAD
rs1166604656 CA388401202	161	C>G		No	ClinGen TOPMed
CA7019816 rs781485056	162	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1461269109 CA388401171	163	G>R		No	ClinGen TOPMed
CA388401151 rs1594350231	164	M>V		No	ClinGen Ensembl
rs757377659 CA7019815	165	R>K		No	ClinGen ExAC TOPMed gnomAD
CA388401118 rs1594350209	165	R>S		No	ClinGen Ensembl
rs529536678 CA7019814	167	R>*		No	ClinGen ExAC gnomAD
rs529536678 CA388401095	167	R>G		No	ClinGen ExAC gnomAD
rs777892270 CA7019813	167	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs758582075 CA7019812	168	V>A		No	ClinGen ExAC TOPMed gnomAD
CA254223914 rs1000417848	170	M>T		No	ClinGen Ensembl
CA7019811 rs753019077	170	M>V		No	ClinGen ExAC gnomAD
CA254223904 rs4148460 VAR_046446	171	C>G		No	ClinGen UniProt ExAC dbSNP gnomAD
CA7019810 rs4148460	171	C>S		No	ClinGen ExAC gnomAD
CA254223899 rs1017849062	172	H>R		No	ClinGen TOPMed gnomAD
rs760103969 CA7019809	172	H>Y		No	ClinGen ExAC gnomAD
rs866481455 CA254223898	173	M>I		No	ClinGen Ensembl
CA7019808 rs754312639	173	M>V		No	ClinGen ExAC gnomAD
rs374877163 CA7019806	176	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs773871274 CA7019805	176	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7019807 rs374877163	176	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA388396691 rs1373961341	178	A>V		No	ClinGen TOPMed gnomAD
CA388396686 rs1228886995	179	L>V		No	ClinGen TOPMed
CA7019785 rs267603866	180	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7019784 rs765169776	180	R>H		No	ClinGen ExAC gnomAD
rs1397003634 CA388396645	182	S>R		No	ClinGen TOPMed gnomAD
rs45454092 CA254211472	184	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388396622 rs1179800586	184	M>L		No	ClinGen TOPMed gnomAD
CA7019783 rs45454092 VAR_020241 RCV000884872	184	M>T		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7019782 rs778110156	186	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1249804325 CA388396582	186	M>V		No	ClinGen TOPMed gnomAD
CA7019781 VAR_020242 rs11568658	187	G>W	transport properties comparable to wild-type [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs536107894 CA7019780	188	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773232722 CA7019779	189	T>K		No	ClinGen ExAC gnomAD
rs988825754 CA254211453	190	T>N		No	ClinGen Ensembl
CA388396481 rs779130429	191	T>A		No	ClinGen ExAC TOPMed gnomAD
rs755152309 CA7019775	191	T>I		No	ClinGen ExAC gnomAD
CA7019776 rs779130429	191	T>P		No	ClinGen ExAC TOPMed gnomAD
rs867523616 CA254211449	192	G>C		No	ClinGen Ensembl
CA254211446 CA388396418 rs1048845084	194	I>L		No	ClinGen TOPMed
CA388396411 rs1594305355	194	I>T		No	ClinGen Ensembl
rs200675964 CA7019774	196	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA388396339 rs1312613967	198	L>P		No	ClinGen gnomAD
rs1435694360 CA388396305	200	N>S		No	ClinGen gnomAD
rs780406756 CA7019773	201	D>G		No	ClinGen ExAC gnomAD
CA388396245 rs1157032669	203	N>H		No	ClinGen gnomAD
rs1566530859 CA388396212	204	K>R		No	ClinGen Ensembl
rs1453232197 CA388396183	205	F>L		No	ClinGen gnomAD
CA254210803 rs199868764 CA388395591	208	V>L		No	ClinGen gnomAD
CA254210802 rs547545812	209	T>I		No	ClinGen 1000Genomes gnomAD
rs371367639 CA7019750	210	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	211	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1594302964 CA388395560	213	H>P		No	ClinGen Ensembl
rs757774957 CA7019749	213	H>Y		No	ClinGen ExAC gnomAD
CA7019748 rs752272439	214	F>C		No	ClinGen ExAC gnomAD
CA254210788 rs751579223	216	W>R		No	ClinGen gnomAD
rs778556021 CA7019747	218	G>R		No	ClinGen ExAC
CA388395502 rs369259439	222	A>E		No	ClinGen ESP ExAC gnomAD
CA388395505 rs1393736682	222	A>T		No	ClinGen gnomAD
CA7019745 rs369259439	222	A>V		No	ClinGen ESP ExAC gnomAD
CA388395493 rs1415738240	224	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs150871678 CA7019740	227	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs375791420 CA254210769	227	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs375791420 CA7019741	227	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7019738 rs761679988	228	L>R		No	ClinGen ExAC gnomAD
CA388395447 rs1453875924	231	M>I		No	ClinGen gnomAD
rs768717595 CA7019736	233	I>T		No	ClinGen ExAC gnomAD
rs763199168 CA388395427	234	G>A		No	ClinGen ExAC TOPMed
CA7019735 rs763199168	234	G>E		No	ClinGen ExAC TOPMed
CA7019733 rs769856095	235	I>K		No	ClinGen ExAC gnomAD
rs775756436 CA7019734	235	I>L		No	ClinGen ExAC gnomAD
CA254210747 rs968582757	236	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7019732 rs148740702	236	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA254210750 rs148740702	236	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7019730 rs771626325	237	C>W		No	ClinGen ExAC gnomAD
CA7019728 rs202182469	238	L>F		No	ClinGen ExAC TOPMed gnomAD
CA7019729 rs202182469	238	L>V		No	ClinGen ExAC TOPMed gnomAD
CA388395400 rs1294763544	240	G>R		No	ClinGen TOPMed
CA388395393 rs1351598173	241	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7019726 rs753239834	242	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388395373 rs1370867054	244	L>V		No	ClinGen gnomAD
CA388395362 rs1281965233	246	I>V		No	ClinGen TOPMed
rs996484820 CA254210724	247	L>P		No	ClinGen TOPMed
CA388395339 rs1394069645	250	L>M		No	ClinGen gnomAD
rs750244546 CA388395325	251	Q>H		No	ClinGen ExAC gnomAD
CA7019722 rs767286152	253	C>S		No	ClinGen ExAC gnomAD
CA388395314 rs1594302551	253	C>S		No	ClinGen Ensembl
rs750336504 CA254210701	254	F>L		No	ClinGen Ensembl
rs1000944077 CA254210693	259	S>L		No	ClinGen gnomAD
CA388395204 rs1272472674	260	S>P		No	ClinGen TOPMed
CA7019711 rs553327392	263	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs866841430 CA254209939	263	S>I		No	ClinGen Ensembl
CA388394657 rs1312975603	263	S>R		No	ClinGen TOPMed
CA7019710 rs772669285	266	A>S		No	ClinGen ExAC gnomAD
CA388394613 rs772669285	266	A>T		No	ClinGen ExAC gnomAD
CA388394605 rs1566527396	266	A>V		No	ClinGen Ensembl
CA7019709 rs748836370	268	F>L		No	ClinGen ExAC gnomAD
rs779371362 CA7019708	268	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1315214214 CA388394559	269	T>M		No	ClinGen gnomAD
rs1224377001 CA388394529	271	A>S		No	ClinGen TOPMed gnomAD
rs1224377001 CA388394533	271	A>T		No	ClinGen TOPMed gnomAD
CA254209928 rs911530513	271	A>V		No	ClinGen gnomAD
rs781004259 CA7019706	273	I>S		No	ClinGen ExAC TOPMed gnomAD
CA7019705 rs781004259	273	I>T		No	ClinGen ExAC TOPMed gnomAD
CA388394500 rs1290124348	273	I>V		No	ClinGen gnomAD
rs751597456 CA254209910	276	M>T		No	ClinGen gnomAD
rs1449700123 CA388394427	280	I>L		No	ClinGen gnomAD
rs1449700123 CA388394429	280	I>V		No	ClinGen gnomAD
CA7019703 rs751301974	281	T>I		No	ClinGen ExAC TOPMed gnomAD
CA388394321 rs1179729421	286	I>T		No	ClinGen TOPMed
rs1431223818 CA388394315	287	K>Q		No	ClinGen TOPMed
CA7019701 rs758200287	290	A>S		No	ClinGen ExAC TOPMed gnomAD
rs758200287 CA388394251	290	A>T		No	ClinGen ExAC TOPMed gnomAD
VAR_046447 rs11568684 CA7019700	293	K>E		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA388394130 rs1209848839	294	S>P		No	ClinGen gnomAD
rs200387797 CA388394059	297	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs200387797 CA7019698	297	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs144290040 CA7019697	299	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1414903616 CA388394022	299	I>V		No	ClinGen gnomAD
TCGA novel	303	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7019680 CA254209440 rs2274407 VAR_022072	304	K>N	transport properties comparable to wild-type [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388393718 rs1328723692	306	E>K		No	ClinGen TOPMed
rs1594296990 CA388393697	307	I>V		No	ClinGen Ensembl
CA7019678 rs753929169	309	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs766715154 CA7019677	312	R>G		No	ClinGen ExAC gnomAD
rs760924381 CA7019676	313	S>R		No	ClinGen ExAC TOPMed gnomAD
CA388393568 rs2274406	317	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388393560 rs1366768537	318	G>E		No	ClinGen gnomAD
rs762421981 CA7019673	321	L>W		No	ClinGen ExAC gnomAD
TCGA novel	323	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA254209419 rs375104829	323	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA gnomAD
TCGA novel	324	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169486738 CA388393464	326	S>R		No	ClinGen gnomAD
TCGA novel	328	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1184055735 CA388393398	330	I>S		No	ClinGen TOPMed
rs776050147 CA7019669	331	I>S		No	ClinGen ExAC gnomAD
rs745396448 CA7019670	331	I>V		No	ClinGen ExAC gnomAD
CA7019667 rs377022090	332	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA388393350 rs1156528420	334	V>M		No	ClinGen TOPMed
rs949103101 CA254209392	336	F>L		No	ClinGen Ensembl
CA388393320 rs1360329688	336	F>S		No	ClinGen TOPMed
CA7019664 rs747930679	340	V>L		No	ClinGen ExAC TOPMed gnomAD
CA388393269 rs747930679	340	V>M		No	ClinGen ExAC TOPMed gnomAD
rs368368634 CA7019662	343	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	346	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388393226 rs1289341348	346	I>T		No	ClinGen TOPMed
CA388393223 rs1231973883	347	T>P		No	ClinGen gnomAD
CA7019659 rs532299842	350	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs145252193 CA7019658	350	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7019656 rs199637358	351	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	353	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761006351 CA7019654	353	V>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs763389671 CA7019653	354	A>T		No	ClinGen ExAC TOPMed gnomAD
rs770400265 CA7019651	355	V>M		No	ClinGen ExAC gnomAD
rs1417193571 CA388393170	356	T>A		No	ClinGen gnomAD
CA7019649 VAR_046448 rs11568701	356	T>M		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA388393146 rs1199166132	360	A>P		No	ClinGen gnomAD
rs544017011 CA254209331	361	V>M		No	ClinGen 1000Genomes
rs986813068 CA388393135	362	R>P		No	ClinGen TOPMed gnomAD
CA254209324 rs986813068	362	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7019646 rs778714745	362	R>W		No	ClinGen ExAC gnomAD
rs1345137456 CA388393132	363	L>V		No	ClinGen gnomAD
CA7019645 rs768534958	364	T>M		No	ClinGen ExAC TOPMed gnomAD
CA254209311 rs967431472	365	V>A		No	ClinGen TOPMed
rs967431472 CA388393119	365	V>G		No	ClinGen TOPMed
rs749232658 CA7019644	366	T>I		No	ClinGen ExAC gnomAD
CA388393117 rs1594296481	366	T>P		No	ClinGen Ensembl
rs1469565675 CA388393098	369	F>L		No	ClinGen gnomAD
rs1230698858 CA388393089	370	P>S		No	ClinGen gnomAD
rs750481110 CA388393053	375	R>S		No	ClinGen ExAC gnomAD
CA388393046 rs1594296352	376	V>G		No	ClinGen Ensembl
rs1432125583 CA388393051	376	V>M		No	ClinGen TOPMed
rs1396775428 CA388393038	378	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1212581617 CA388393027	379	A>G		No	ClinGen gnomAD
rs1370276985 CA388393024	380	I>V		No	ClinGen TOPMed
rs139736278 CA7019639	381	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1221798432 CA388393009	382	S>I		No	ClinGen gnomAD
rs764503927 CA7019637	383	I>V		No	ClinGen ExAC TOPMed gnomAD
CA388392998 rs1159726645	384	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7019636 rs763493372	384	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	385	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388392975 rs1566525753	387	Q>H		No	ClinGen Ensembl
rs1474208365 CA388403970	388	T>I		No	ClinGen TOPMed
rs1474208365 CA388403972	388	T>N		No	ClinGen TOPMed
CA254242093 rs1036545604	392	L>P		No	ClinGen TOPMed
rs758787771 CA7019618	392	L>V		No	ClinGen ExAC gnomAD
rs372804651 CA7019617	393	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1211159189 CA388403926	395	I>T		No	ClinGen gnomAD
rs765738938 CA7019615	396	S>A		No	ClinGen ExAC gnomAD
rs1346243000 CA388403918	397	Q>E		No	ClinGen gnomAD
rs1210874730 CA388403915	397	Q>R		No	ClinGen gnomAD
rs141417140 CA7019614	398	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7019613 rs749961375	398	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1366060729 CA388403906	399	N>H		No	ClinGen gnomAD
CA388403900 rs1299961685	399	N>K		No	ClinGen gnomAD
TCGA novel	400	R>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7019612 rs200696756	400	R>C	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7019611 rs761410807	400	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388403892 rs1378448091	401	Q>*		No	ClinGen TOPMed
CA7019609 rs11568705 VAR_029122	403	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs775354490 CA7019607	405	D>A		No	ClinGen ExAC gnomAD
rs769863573 CA7019606	406	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1428666466 CA388403847	408	K>R		No	ClinGen gnomAD
CA7019605 rs745801097	414	D>E		No	ClinGen ExAC gnomAD
rs1189997863 CA388403800	414	D>G		No	ClinGen gnomAD
rs540890140 CA7019603	416	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA388403786 rs1453706988	416	T>S		No	ClinGen gnomAD
rs1248811383 CA388403757	420	D>G		No	ClinGen gnomAD
CA7019602 rs747014220	421	K>N		No	ClinGen ExAC gnomAD
CA388403729 rs1286366749	422	A>V		No	ClinGen TOPMed gnomAD
CA7019584 rs760818517	425	T>A		No	ClinGen ExAC gnomAD
rs773219079 CA7019583	425	T>N		No	ClinGen ExAC gnomAD
CA7019582 rs369798203	427	T>I		No	ClinGen ESP ExAC gnomAD
rs60188847 CA388403698	428	L>V		No	ClinGen gnomAD
CA254236421 rs140835394	430	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7019579 rs140835394	430	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs140835394 CA7019580	430	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs780641880 CA7019577	434	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1276417867 CA388403650	436	R>T		No	ClinGen TOPMed
CA7019576 rs756511116	437	P>A		No	ClinGen ExAC gnomAD
CA7019575 rs751089948	437	P>L		No	ClinGen ExAC gnomAD
CA388403634 rs1246870484	439	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA388403613 rs1212411001	442	A>T		No	ClinGen gnomAD
rs368017938 CA7019571	445	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345176162 CA388403584	447	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs766357126 CA388403571	449	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766357126 CA7019568	449	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	452	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA254234550 rs997114066	454	L>P		No	ClinGen TOPMed
CA7019541 rs200858900	458	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	458	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1594259221 CA388403185	459	L>F		No	ClinGen Ensembl
CA7019538 rs747675034	460	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7019537 rs778273161	463	A>T		No	ClinGen ExAC gnomAD
rs1228593976 CA388403123	464	P>S		No	ClinGen gnomAD
rs748864087 CA388403084	466	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA254234460 rs931116870	467	G>E		No	ClinGen TOPMed
rs755928739 CA7019533	470	S>I		No	ClinGen ExAC gnomAD
CA7019532 rs767443394	470	S>R		No	ClinGen ExAC TOPMed gnomAD
CA388403045 rs755928739	470	S>T		No	ClinGen ExAC gnomAD
rs368213763 CA7019530	471	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA388403022 rs1290619275	472	H>R		No	ClinGen Ensembl
rs1361789977 CA388403024	472	H>Y		No	ClinGen gnomAD
CA7019529 rs751719652	474	R>G		No	ClinGen ExAC gnomAD
rs1370256178 CA388402982	475	I>T		No	ClinGen gnomAD
TCGA novel	476	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388402968 rs1169391624	476	A>V		No	ClinGen gnomAD
CA7019528 rs764076680	477	Y>C		No	ClinGen ExAC gnomAD
CA7019527 rs763274710	480	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs775550569 CA7019526	481	Q>K		No	ClinGen ExAC gnomAD
rs765461340 CA7019525	482	P>L		No	ClinGen ExAC gnomAD
rs759986076 CA388402857	485	F>I		No	ClinGen ExAC TOPMed gnomAD
rs759986076 CA7019524	485	F>L		No	ClinGen ExAC TOPMed gnomAD
rs777079231 CA7019523	486	S>L		No	ClinGen ExAC TOPMed gnomAD
CA7019521 rs11568668 VAR_029123	487	G>E	transport properties comparable to wild-type [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA388402717 rs1239209822	495	F>S		No	ClinGen TOPMed
rs11568669 CA7019517 VAR_020243 RCV000957178	498	K>E		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7019515 rs145886106	500	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1167698945 CA388402662	502	E>G		No	ClinGen gnomAD
CA254234202 rs1036187257	503	R>*		No	ClinGen TOPMed
CA7019514 rs745673014	503	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1003011116 CA254234176	505	E>G		No	ClinGen Ensembl
CA7019510 rs764281428	508	I>M		No	ClinGen ExAC gnomAD
rs1359739625 CA388402625	508	I>V		No	ClinGen gnomAD
CA7019509 rs758427824	509	K>T		No	ClinGen ExAC gnomAD
rs752757656 CA7019508	510	A>T		No	ClinGen ExAC gnomAD
rs1383716813 CA388402475	516	D>V		No	ClinGen gnomAD
rs775043983 CA7019479	520	L>V		No	ClinGen ExAC gnomAD
CA388402369 rs1374989434	524	D>N		No	ClinGen TOPMed
TCGA novel	524	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776286309 CA7019476	527	V>G		No	ClinGen ExAC gnomAD
CA7019474 rs746795427	528	I>T		No	ClinGen ExAC TOPMed gnomAD
rs770529292 CA7019475	528	I>V		No	ClinGen ExAC gnomAD
CA254227121 rs868313374	529	G>E		No	ClinGen Ensembl
rs777612329 CA7019473	529	G>R		No	ClinGen ExAC gnomAD
CA7019472 rs367759893	531	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs142211148 CA7019470	531	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367759893 CA7019471	531	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7019468 rs753932916	532	G>E		No	ClinGen ExAC TOPMed gnomAD
rs780430521 CA7019467	533	T>A		No	ClinGen ExAC gnomAD
rs1342882666 CA388402230	534	T>A		No	ClinGen gnomAD
rs750807873 CA254227101	534	T>K		No	ClinGen ExAC TOPMed gnomAD
CA7019465 rs750807873	534	T>M		No	ClinGen ExAC TOPMed gnomAD
rs750807873 CA7019466	534	T>R		No	ClinGen ExAC TOPMed gnomAD
CA388402196 rs1470609013	536	S>I		No	ClinGen TOPMed
CA388402115 rs1322705031	540	K>N		No	ClinGen gnomAD
CA388402101 rs1235649173	541	A>V		No	ClinGen gnomAD
rs767916913 CA7019464	542	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388402064 rs1594242141	544	N>T		No	ClinGen Ensembl
CA388402024 rs1305725872	546	A>V		No	ClinGen gnomAD
rs1406117320 CA388402016	547	R>K		No	ClinGen TOPMed
CA7019443 rs751878990	549	V>E		No	ClinGen ExAC gnomAD
CA7019442 rs764588654	551	Q>R		No	ClinGen ExAC gnomAD
rs758894016 CA7019441	553	A>T		No	ClinGen ExAC gnomAD
rs202099979 CA254226793	553	A>V		No	ClinGen 1000Genomes gnomAD
rs1566495460 CA388401859	555	I>V		No	ClinGen Ensembl
CA7019440 VAR_045684 rs753414892	556	Y>C	40% reduced expression level compared to wild-type; higher transport of 9-(2-phosphonyl-methoxyethyl) adenine than wild-type [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs765881473 CA7019439	557	L>P		No	ClinGen ExAC gnomAD
CA388401828 rs1280856591	560	D>N		No	ClinGen TOPMed gnomAD
rs1280856591 CA388401826	560	D>Y		No	ClinGen TOPMed gnomAD
rs1339319165 CA388401817	561	P>L		No	ClinGen gnomAD
CA388401818 rs1195490931	561	P>S		No	ClinGen TOPMed
CA388401814 rs1337992043	562	L>I		No	ClinGen gnomAD
CA7019436 rs767042003	563	S>N		No	ClinGen ExAC gnomAD
rs150633056 CA7019435	564	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	566	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749230800 CA7019433	567	A>G		No	ClinGen ExAC TOPMed gnomAD
rs749230800 CA7019432	567	A>V		No	ClinGen ExAC TOPMed gnomAD
CA388401760 rs775468503	570	S>I		No	ClinGen ExAC TOPMed gnomAD
CA7019431 rs775468503	570	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1185465610 CA388401758	570	S>R		No	ClinGen gnomAD
rs1333332336 CA388401747	572	H>R		No	ClinGen TOPMed gnomAD
CA7019430 rs769892356	574	F>C		No	ClinGen ExAC gnomAD
CA7019428 rs781506182	575	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA388401728 rs781506182	575	E>Q		No	ClinGen ExAC gnomAD
CA388400348 rs1366507341	578	I>T		No	ClinGen gnomAD
CA388400351 rs1286808210	578	I>V		No	ClinGen TOPMed
rs568068420 CA7019406	579	C>G		No	ClinGen 1000Genomes ExAC gnomAD
CA7019407 rs568068420	579	C>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1171184262 CA388400330	581	I>V		No	ClinGen gnomAD
CA388400317 rs1361814910	583	H>N		No	ClinGen TOPMed gnomAD
rs1185311746 CA388400303	584	E>D		No	ClinGen TOPMed
CA388400265 rs901535807	590	V>L		No	ClinGen gnomAD
rs901535807 CA254221516	590	V>M		No	ClinGen gnomAD
rs1269173319 CA388400253	592	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	595	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7019401 rs780559776	595	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs757008486 CA7019400	596	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA388400208 rs1309845417	598	K>R		No	ClinGen gnomAD
CA254221506 rs1023992632	599	A>T		No	ClinGen TOPMed
CA388400197 rs1566487437	600	A>G		No	ClinGen Ensembl
rs763787578 CA7019398	600	A>T		No	ClinGen ExAC gnomAD
CA388400193 rs1223290925	601	S>G		No	ClinGen gnomAD
rs762871057 CA388400163	604	L>V		No	ClinGen ExAC TOPMed gnomAD
rs765232727 CA7019395	605	I>R		No	ClinGen ExAC gnomAD
rs773457032 CA7019390	608	D>E		No	ClinGen ExAC gnomAD
rs1340353428 CA388400072	608	D>G		No	ClinGen TOPMed
CA7019391 rs760698473	608	D>N		No	ClinGen ExAC gnomAD
TCGA novel	608	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7019373 rs372499249	612	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	617	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388399152 rs150730511	620	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs549726345 CA7019368	621	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA7019367 VAR_029124 rs11568699	625	I>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388399127 rs1245504971	625	I>V		No	ClinGen gnomAD
TCGA novel	626	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7019366 rs749612242	627	F>S		No	ClinGen ExAC gnomAD
CA7019365 rs776168314	628	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7019364 rs770357231	629	S>A		No	ClinGen ExAC gnomAD
rs201499878 CA7019363	629	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1299608063 CA388399075	633	K>E		No	ClinGen TOPMed
CA388399072 rs1314521600	633	K>R		No	ClinGen gnomAD
rs147457142 CA7019362	634	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs758110992 CA7019361	635	N>S		No	ClinGen ExAC gnomAD
CA919335002 rs1594216711	636	E>*		No	ClinGen Ensembl
CA388399034 rs1380329567	638	S>T		No	ClinGen gnomAD
CA7019360 rs747735221	639	E>G		No	ClinGen ExAC gnomAD
rs142639713 CA7019358	641	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778579872 CA7019359	641	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7019357 rs374759212	642	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA254218853 rs1001104199	644	P>S		No	ClinGen Ensembl
CA254218836 rs868140829	645	G>E		No	ClinGen Ensembl
rs750572028 CA7019354	646	T>A		No	ClinGen ExAC gnomAD
rs889918273 CA254218808	647	P>R		No	ClinGen TOPMed
rs767551453 CA7019353	649	L>I		No	ClinGen ExAC gnomAD
CA7019352 rs762141715	651	N>I		No	ClinGen ExAC gnomAD
rs369051784 CA254218789	652	R>C		No	ClinGen TOPMed
CA388398953 rs1435109800	652	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7019351 rs774457124	654	F>L		No	ClinGen ExAC gnomAD
CA7019350 rs764334399	657	S>C		No	ClinGen ExAC gnomAD
CA254218781 rs1049918565	658	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1361612500 CA388398913	659	V>I		No	ClinGen gnomAD
CA388398901 rs1317110400	660	W>*		No	ClinGen gnomAD
rs1317110400 CA388398900	660	W>C		No	ClinGen gnomAD
rs1225198025 CA388398894	661	S>F		No	ClinGen gnomAD
rs1325758333 CA388398892	662	Q>*		No	ClinGen gnomAD
rs972780525 CA254218776	664	S>Y		No	ClinGen TOPMed gnomAD
CA7019346 rs760115166	665	S>F		No	ClinGen ExAC gnomAD
CA7019347 rs372080728	665	S>P		No	ClinGen ESP ExAC gnomAD
CA7019344 rs771504856	667	P>A		No	ClinGen ExAC TOPMed gnomAD
CA254218744 VAR_029125 rs11568697	667	P>L		No	ClinGen UniProt TOPMed dbSNP gnomAD
rs771504856 CA254218761	667	P>S		No	ClinGen ExAC TOPMed gnomAD
CA388398860 rs771504856	667	P>T		No	ClinGen ExAC TOPMed gnomAD
rs778436423 CA7019342	668	S>F		No	ClinGen ExAC gnomAD
TCGA novel	669	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1056846611 CA254218731	671	D>V		No	ClinGen Ensembl
rs768299533 CA7019341	673	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1223445435 CA388398808	675	E>D		No	ClinGen gnomAD
CA388398316 rs1438409765	679	T>I		No	ClinGen gnomAD
rs779124863 CA7019321	682	V>F		No	ClinGen ExAC gnomAD
CA7019322 rs779124863	682	V>I		No	ClinGen ExAC gnomAD
CA388398260 rs1197443446	683	P>L		No	ClinGen gnomAD
rs1490428466 CA388398257	684	V>I		No	ClinGen TOPMed
rs745620094 CA7019320	685	T>I		No	ClinGen ExAC gnomAD
CA388398204 rs1277505284	687	S>L		No	ClinGen gnomAD
CA388398177 rs1277342970	688	E>D		No	ClinGen TOPMed gnomAD
rs751646795 CA7019317	691	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7019316 rs551340224	691	R>H		No	ClinGen ExAC TOPMed gnomAD
rs939483455 CA254217854	692	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1427049098 CA388398060	694	G>R		No	ClinGen TOPMed
rs1167416814 CA388398023	696	V>L		No	ClinGen TOPMed
rs1331502362 CA388398008	697	G>D		No	ClinGen gnomAD
rs758732985 CA7019315	700	A>G		No	ClinGen ExAC TOPMed gnomAD
rs765515924 CA388397936	701	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs765515924 CA7019313	701	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs201327449 CA7019312	703	N>H		No	ClinGen 1000Genomes ExAC gnomAD
rs377524402 CA7019311	704	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7019308 rs773778510	708	G>D		No	ClinGen ExAC gnomAD
rs1181805822 CA388397828	710	H>L		No	ClinGen gnomAD
CA7019306 rs762397559	711	W>C		No	ClinGen ExAC
rs546584439 CA7019305	713	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs903648957 CA254217824	714	F>L		No	ClinGen TOPMed
rs769367700 CA7019304	715	I>M		No	ClinGen ExAC gnomAD
CA7019301 rs770838504	719	L>F		No	ClinGen ExAC TOPMed gnomAD
CA388397766 rs910107842	720	L>V		No	ClinGen gnomAD
CA7019300 rs746933451	722	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7019299 rs777763143	725	Q>H		No	ClinGen ExAC
rs1371792752 CA388397732	725	Q>R		No	ClinGen TOPMed gnomAD
rs770736723 CA7019283	727	A>T		No	ClinGen ExAC gnomAD
rs1347241029 CA388397588	728	Y>C		No	ClinGen gnomAD
CA388397562 rs1301507232	730	L>F		No	ClinGen gnomAD
rs1004834870 CA254217352	733	W>G		No	ClinGen TOPMed
rs1273279011 CA388397470	734	W>*		No	ClinGen gnomAD
rs776054910 CA7019279	737	Y>C		No	ClinGen ExAC gnomAD
rs776054910 CA254217329	737	Y>F		No	ClinGen ExAC gnomAD
CA7019280 rs772079969	737	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA388397239 rs1203876104	739	A>V		No	ClinGen TOPMed
rs772205067 CA7019263	740	N>H		No	ClinGen ExAC gnomAD
CA7019261 rs138042414	742	Q>E		No	ClinGen ESP ExAC gnomAD
rs138042414 CA254217032	742	Q>K		No	ClinGen ESP ExAC gnomAD
CA7019259 RCV000968696 VAR_020244 rs9282570	744	M>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7019258 rs749283158	745	L>V		No	ClinGen ExAC gnomAD
rs1447017202 CA388397130	748	T>P		No	ClinGen TOPMed gnomAD
rs780324994 CA7019257	750	N>T		No	ClinGen ExAC gnomAD
TCGA novel	751	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411688602 CA388397071	754	N>S		No	ClinGen gnomAD
CA7019254 VAR_022073 rs3765534	757	E>K	10% reduced expression level compared to wild-type; transport properties comparable to wild-type [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388396880 rs1402299296	766	G>E		No	ClinGen gnomAD
TCGA novel	767	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7019253 rs772916128	768	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA388396757 rs1387188027	770	G>A		No	ClinGen TOPMed
CA388396743 rs1446504722	772	T>I		No	ClinGen Ensembl
rs1297621722 CA388396737	773	V>G		No	ClinGen TOPMed
CA7019240 rs774465145	775	T>A		No	ClinGen ExAC TOPMed gnomAD
rs775415620 CA7019237	776	V>D		No	ClinGen ExAC gnomAD
VAR_045685 rs146708960 CA7019238	776	V>I	Variant assessed as Somatic; 0.0 impact. 20% reduced expression level compared to wild-type; significant lower activity in 6-mercaptopurine transport than wild-type [NCI-TCGA, UniProt]	No	ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1183487881 CA388396721	777	L>F		No	ClinGen gnomAD
rs369050249 CA7019234	780	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs201512856 CA7019235 CA388396690	780	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201512856 CA7019236	780	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1203700719 CA388396681	781	A>P		No	ClinGen gnomAD
TCGA novel	784	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357343916 CA388396608	786	V>I		No	ClinGen TOPMed gnomAD
rs778266348 CA7019231	788	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs779403637 CA7019228	789	V>F		No	ClinGen ExAC TOPMed gnomAD
rs779403637 CA7019229	789	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7019227 rs755848183	790	L>H		No	ClinGen ExAC gnomAD
CA7019226 rs553316228	792	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1054937503 CA254216093	793	S>C		No	ClinGen Ensembl
rs1298410603 CA388396376	796	T>S		No	ClinGen gnomAD
CA7019225 rs767243389	797	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1363206569 CA388396337	798	H>Y		No	ClinGen gnomAD
CA7019224 rs757118586	801	M>I		No	ClinGen ExAC gnomAD
rs1473420836 CA388396233	802	F>V		No	ClinGen gnomAD
CA7019223 rs751338164	803	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1191570622 CA388396164	804	S>L		No	ClinGen TOPMed gnomAD
rs762792440 CA7019221	809	P>L		No	ClinGen ExAC TOPMed gnomAD
rs200035611 CA7019219	810	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1322920408 CA388396074	810	V>L		No	ClinGen TOPMed
rs776869758 CA7019217	811	L>S		No	ClinGen ExAC gnomAD
rs1244961908 CA388395935	817	P>T		No	ClinGen Ensembl
rs1325613342 CA388395912	818	I>R		No	ClinGen gnomAD
rs11568659 CA7019202 VAR_045686	820	R>I	Variant assessed as Somatic; 0.0 impact. transport properties comparable to wild-type [NCI-TCGA, UniProt]	No	ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1375030559 CA388394889	822	L>F		No	ClinGen gnomAD
CA254227251 rs779529353	823	N>I		No	ClinGen TOPMed gnomAD
rs199702034 CA7019200	824	R>C		No	ClinGen ExAC gnomAD
rs757773215 CA254227247	824	R>H		No	ClinGen TOPMed gnomAD
rs759617176 CA7019199	826	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7019198 rs776679302	827	K>E		No	ClinGen ExAC gnomAD
CA7019197 rs60532299	827	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374304122 CA7019196	829	I>V		No	ClinGen ESP ExAC gnomAD
rs773677219 CA388394777	831	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1238710540 CA388394755	834	D>E		No	ClinGen gnomAD
CA7019193 rs772348869	834	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs368060248 CA7019191	837	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs778084933 CA254227199	839	T>M		No	ClinGen gnomAD
TCGA novel	842	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA254227194 rs893682726	843	F>L		No	ClinGen Ensembl
CA254210187 rs764479887	847	L>F		No	ClinGen Ensembl
TCGA novel	850	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs11568694 CA7019159 VAR_045687	854	V>F	transport properties comparable to wild-type [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7019158 rs753798410	857	A>T		No	ClinGen ExAC gnomAD
CA7019157 rs779928861	858	V>G		No	ClinGen ExAC gnomAD
CA254210162 rs75641954	859	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs75641954 CA7019156	859	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767694341 CA7019154	860	V>G		No	ClinGen ExAC
VAR_020245 rs45477596 CA7019155	860	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388392349 rs1594067697	861	I>V		No	ClinGen Ensembl
rs1320355720 CA388392342	862	P>T		No	ClinGen TOPMed gnomAD
rs1281593812 CA388392328	864	I>V		No	ClinGen gnomAD
rs751913025 CA388392320	865	A>S		No	ClinGen ExAC gnomAD
rs751913025 CA7019150	865	A>T		No	ClinGen ExAC gnomAD
RCV000890976 VAR_045688 CA7019149 rs139970608	866	I>V	transport properties comparable to wild-type [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs763362655 CA7019148	867	P>A		No	ClinGen ExAC gnomAD
CA388392306 rs1438543818	867	P>L		No	ClinGen gnomAD
CA388392300 rs1352626448	868	L>F		No	ClinGen TOPMed gnomAD
CA7019146 rs770359167	869	V>A		No	ClinGen ExAC gnomAD
rs776174119 CA7019147	869	V>I		No	ClinGen ExAC TOPMed gnomAD
CA254210133 rs892612320	873	I>T		No	ClinGen Ensembl
rs147486099 CA7019145	877	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	878	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371124557 CA7019143	879	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7019144 rs772774190	879	R>W		No	ClinGen ExAC TOPMed gnomAD
CA388392231 rs1238097822	880	R>*		No	ClinGen gnomAD
rs201390689 CA7019141	880	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7019140 rs201390689	880	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7019138 rs779975866	883	L>W		No	ClinGen ExAC gnomAD
rs1312935464 CA388392204	884	E>A		No	ClinGen TOPMed gnomAD
rs1312935464 CA388392203	884	E>G		No	ClinGen TOPMed gnomAD
rs1222142447 CA388392194	885	T>M		No	ClinGen TOPMed gnomAD
TCGA novel	887	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	888	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	888	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA254210102 rs925622427	891	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs781305510 CA388392156	891	R>H		No	ClinGen ExAC TOPMed gnomAD
rs781305510 CA254210098	891	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7019135 rs757472380	895	T>A		No	ClinGen ExAC TOPMed gnomAD
CA7019134 rs751855343	895	T>I		No	ClinGen ExAC TOPMed gnomAD
rs769663620 CA254206903	897	R>G		No	ClinGen ExAC TOPMed gnomAD
rs375519291 CA7019118	897	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7019119 rs769663620	897	R>W	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1258580093 CA388392109	898	S>I		No	ClinGen gnomAD
rs1594054518 CA388392100	899	P>L		No	ClinGen Ensembl
rs780945816 CA7019117	899	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7019116 rs45504892 VAR_020246	900	V>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1004189967 CA254206891	902	S>P		No	ClinGen TOPMed
CA388392079 rs1218797107	903	H>Y		No	ClinGen gnomAD
CA388392067 rs1678339	904	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7019113 rs758681520	905	S>A		No	ClinGen ExAC gnomAD
TCGA novel	907	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765611631 CA7019111	907	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7019110 rs199652249	908	L>R		No	ClinGen 1000Genomes ExAC TOPMed
rs141778352 CA7019109	909	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761323924 CA7019107	910	G>V		No	ClinGen ExAC gnomAD
rs1389273549 CA388392031	911	L>F		No	ClinGen gnomAD
rs1163159139 CA388392024	912	W>*		No	ClinGen gnomAD
CA7019105 rs763799346	913	T>S		No	ClinGen ExAC
CA7019104 rs762567197	914	I>L		No	ClinGen ExAC gnomAD
CA7019103 rs775316511	915	R>P		No	ClinGen ExAC TOPMed gnomAD
CA388392006 rs775316511	915	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs978321113 CA254206859	915	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA388392004 rs1477621882	916	A>T		No	ClinGen gnomAD
rs376828843 CA254206853	917	Y>C		No	ClinGen ESP
rs745612538 CA7019101	919	A>V		No	ClinGen ExAC gnomAD
rs776637323 CA7019100	920	E>D		No	ClinGen ExAC gnomAD
CA388391963 rs1436545255	922	R>G		No	ClinGen TOPMed
rs770717813 CA7019099	925	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	926	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1356899305 CA388391921	927	F>L		No	ClinGen gnomAD
rs747145226 CA7019098	930	H>Q		No	ClinGen ExAC gnomAD
rs777996840 CA7019097	932	D>N		No	ClinGen ExAC gnomAD
rs772471219 CA7019096	935	S>*		No	ClinGen ExAC gnomAD
CA388391847 rs1479037763	936	E>D		No	ClinGen gnomAD
CA7019095 rs148067777	936	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs779206594 CA7019076	937	A>T		No	ClinGen ExAC gnomAD
CA388391838 rs1176739601	938	W>*		No	ClinGen TOPMed gnomAD
rs1176739601 CA388391836	938	W>L		No	ClinGen TOPMed gnomAD
CA7019074 rs749725711	941	F>C		No	ClinGen ExAC TOPMed gnomAD
rs764516270 CA254206466	941	F>I		No	ClinGen Ensembl
CA254206461 rs775847807	943	T>A		No	ClinGen gnomAD
CA7019071 rs750954023	944	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	945	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7019069 rs368710376	946	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs752092743 CA7019068	946	R>H		No	ClinGen ExAC gnomAD
rs1189466 CA388391769	948	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	949	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753708057 CA7019065	950	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA254206445 rs1039728112	951	R>C		No	ClinGen gnomAD
rs766299246 CA7019064	951	R>H		No	ClinGen ExAC TOPMed gnomAD
CA254206441 rs942872664	953	D>N		No	ClinGen Ensembl
CA254206439 rs138559279	954	A>T		No	ClinGen ESP
CA388391724 rs11568707	956	C>F		No	ClinGen gnomAD
rs11568707 CA254206437	956	C>S		No	ClinGen gnomAD
CA7019063 rs370688144	957	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419030098 CA388391713	958	M>T		No	ClinGen gnomAD
CA254206431 rs112810906	958	M>V		No	ClinGen Ensembl
rs866391149 CA254206429	960	V>I		No	ClinGen Ensembl
CA388391694 rs1188488998	961	I>V		No	ClinGen TOPMed
CA388391687 rs1566393904	962	I>V		No	ClinGen Ensembl
CA7019062 rs376326528	963	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs779540586 CA254206421	966	G>R		No	ClinGen Ensembl
CA7019061 rs772075884	970	L>P		No	ClinGen ExAC gnomAD
rs867834364 CA254206418	971	A>T		No	ClinGen Ensembl
CA7019038 rs769948414	974	L>V		No	ClinGen ExAC gnomAD
CA254206207 rs970160658	977	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA388391568 rs1324040871	980	G>S		No	ClinGen gnomAD
CA388391561 rs1450729398	981	L>V		No	ClinGen TOPMed
rs771509326 CA7019035	985	Y>C		No	ClinGen ExAC gnomAD
CA388391537 rs1169560444	985	Y>H		No	ClinGen gnomAD
CA7019033 rs778302118	986	A>T		No	ClinGen ExAC gnomAD
rs754450666 CA7019032	986	A>V		No	ClinGen ExAC gnomAD
CA388391518 rs779443384	988	T>K		No	ClinGen ExAC TOPMed gnomAD
CA7019031 rs779443384	988	T>M		No	ClinGen ExAC TOPMed gnomAD
CA388391489 rs1199527452	992	M>I		No	ClinGen gnomAD
rs1456692654 CA388391493	992	M>L		No	ClinGen gnomAD
CA388391491 rs1257777451	992	M>T		No	ClinGen gnomAD
CA388391485 rs1192874833	993	F>L		No	ClinGen TOPMed
CA254206192 rs377216030	994	Q>*		No	ClinGen ESP
CA7019029 rs755821526	996	C>Y		No	ClinGen ExAC gnomAD
CA7019028 rs149024948	998	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs767394657 CA7019027	998	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757024501 CA7019026	1000	S>N		No	ClinGen ExAC gnomAD
CA388391424 rs1422927111	1002	E>Q		No	ClinGen TOPMed
rs1304036691 CA388391412	1003	V>A		No	ClinGen gnomAD
CA388402533 rs1181996654	1009	S>L		No	ClinGen TOPMed
CA388402525 rs1465194483	1011	E>Q		No	ClinGen gnomAD
CA388402509 rs1174907122	1013	V>D		No	ClinGen gnomAD
rs757011393 CA7019009	1013	V>F		No	ClinGen ExAC gnomAD
TCGA novel	1014	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1014	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777632365 CA388402458	1017	T>I		No	ClinGen ExAC TOPMed gnomAD
rs777632365 CA7019008	1017	T>K		No	ClinGen ExAC TOPMed gnomAD
rs777632365 CA7019007	1017	T>R		No	ClinGen ExAC TOPMed gnomAD
rs942384884 CA254181280	1018	D>E		No	ClinGen TOPMed gnomAD
rs1468050109 CA388402445	1019	L>F		No	ClinGen TOPMed
CA388402443 rs1468050109	1019	L>V		No	ClinGen TOPMed
CA388402398 rs1380220916	1022	E>A		No	ClinGen gnomAD
CA7019006 rs758354020	1023	A>V		No	ClinGen ExAC TOPMed gnomAD
CA254181258 rs1052961535	1024	P>L		No	ClinGen Ensembl
TCGA novel	1025	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs137918608 CA7019004	1030	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs137918608 CA7019005	1030	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs759564295 CA7019003	1030	R>H		No	ClinGen ExAC TOPMed gnomAD
rs904451385 CA254181224	1031	P>S		No	ClinGen TOPMed
rs201038632 CA7019002	1032	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201038632 CA7019001	1032	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs972711951 CA254181175	1036	P>L		No	ClinGen TOPMed
CA7018999 rs773620026	1036	P>S		No	ClinGen ExAC gnomAD
rs1233914352 CA388402231	1037	H>Q		No	ClinGen TOPMed
rs1351498759 CA388402238	1037	H>R		No	ClinGen gnomAD
CA388402207 rs149381482	1040	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7018997 rs149381482	1040	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388402190 rs1310249311	1041	I>M		No	ClinGen gnomAD
rs1322905407 CA388402194	1041	I>T		No	ClinGen TOPMed
TCGA novel	1042	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765339717 CA7018996	1045	N>S		No	ClinGen ExAC gnomAD
TCGA novel	1047	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388402097 rs1360501972	1049	M>I		No	ClinGen gnomAD
rs757273899 CA254181102	1049	M>T		No	ClinGen TOPMed gnomAD
rs1159620261 CA388402073	1051	S>N		No	ClinGen gnomAD
rs745315822 CA7018994	1053	G>R		No	ClinGen ExAC gnomAD
CA388402014 rs1367102712	1057	V>A		No	ClinGen gnomAD
CA254181060 rs866661588	1063	A>T		No	ClinGen Ensembl
CA7018991 rs746848354	1064	L>F		No	ClinGen ExAC gnomAD
rs1400540628 CA388401960	1065	I>N		No	ClinGen TOPMed
CA254181058 rs1012957500	1065	I>V		No	ClinGen TOPMed
CA7018989 rs151127848	1066	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1254132856 CA388401940	1067	S>P		No	ClinGen TOPMed gnomAD
CA254181052 rs972224350	1070	K>N		No	ClinGen TOPMed
CA388400856 rs1364794726	1071	V>A		No	ClinGen TOPMed
CA7018959 rs11568653	1071	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388400846 rs1464589338	1073	I>V		No	ClinGen TOPMed gnomAD
CA388400831 rs1320247301	1074	V>M		No	ClinGen TOPMed
CA7018958 rs141756029	1075	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1076	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7018956 rs370141907	1078	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs980695905 CA254174468	1079	A>T		No	ClinGen TOPMed
CA388400711 rs1292889268	1084	L>F		No	ClinGen TOPMed
CA388400705 rs756094046	1085	I>L		No	ClinGen ExAC gnomAD
rs756094046 CA7018954	1085	I>V		No	ClinGen ExAC gnomAD
TCGA novel	1086	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388400684 rs1208534249	1087	A>T		No	ClinGen TOPMed
CA388400655 rs915443390	1089	F>S		No	ClinGen gnomAD
rs915443390 CA254174460	1089	F>Y		No	ClinGen gnomAD
rs1254858415 CA388400624	1091	L>W		No	ClinGen TOPMed gnomAD
rs751961590 CA7018950	1095	E>K		No	ClinGen ExAC TOPMed gnomAD
rs111856182 CA254174439	1096	G>A		No	ClinGen Ensembl
CA254174442 rs111856182	1096	G>D		No	ClinGen Ensembl
CA388400538 rs1267280711	1099	W>*		No	ClinGen gnomAD
rs1446487240 CA388400512	1102	K>N		No	ClinGen gnomAD
rs1331096484 CA388400492	1105	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7018947 rs776055053	1106	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388400471 rs1401611367	1108	I>M		No	ClinGen TOPMed gnomAD
rs1566382934 CA388400473	1108	I>T		No	ClinGen Ensembl
rs765938854 CA7018946	1109	G>R		No	ClinGen ExAC gnomAD
rs1594032762 CA388400458	1111	H>N		No	ClinGen Ensembl
CA7018943 rs771698317	1112	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1555306638 CA388400435	1114	R>K		No	ClinGen Ensembl
rs1751034 CA388400416	1116	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388400420 rs1284369969	1116	K>Q		No	ClinGen gnomAD
CA388400408 rs1348220077	1117	M>I		No	ClinGen gnomAD
CA7018941 rs774100274	1117	M>T		No	ClinGen ExAC
rs1024388256 CA254174298	1121	P>L		No	ClinGen TOPMed
CA254174291 rs111268334	1122	Q>R		No	ClinGen Ensembl
CA254166210 rs1055140634	1123	E>K		No	ClinGen TOPMed gnomAD
rs201085997 CA7018920	1125	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388399729 rs1226952790	1126	L>F		No	ClinGen gnomAD
CA388399713 rs1355973152	1129	G>R		No	ClinGen gnomAD
CA7018918 rs769608417	1131	M>I		No	ClinGen ExAC gnomAD
TCGA novel	1131	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388399698 rs1235326392	1131	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs375198345 CA7018919	1131	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs990568834 CA254166171	1132	R>G		No	ClinGen gnomAD
rs746029390 CA388399689	1132	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7018916 rs781394969	1141	H>Y		No	ClinGen ExAC gnomAD
RCV000885279 VAR_029126 CA7018915 rs11568644	1142	T>M	10% reduced expression level compared to wild-type; transport properties comparable to wild-type [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1320106844 CA388399622	1142	T>P		No	ClinGen gnomAD
rs11568644 CA254166161	1142	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA254166149 rs755083401	1143	D>N		No	ClinGen Ensembl
CA388399614 rs1165231157	1143	D>V		No	ClinGen gnomAD
CA388399607 rs1238460528	1144	E>A		No	ClinGen TOPMed
CA388399601 rs1475954886	1145	E>K		No	ClinGen gnomAD
rs778104118 CA7018913	1147	W>*		No	ClinGen ExAC gnomAD
CA254166138 rs973072279	1148	N>S		No	ClinGen TOPMed gnomAD
rs758796606 CA7018912	1150	L>S		No	ClinGen ExAC gnomAD
CA7018910 rs779538776	1151	Q>*		No	ClinGen ExAC
rs1280057214 CA388399513	1152	E>K		No	ClinGen TOPMed
rs764968059 CA7018883	1153	V>A		No	ClinGen ExAC gnomAD
rs752590278 CA7018884	1153	V>I		No	ClinGen ExAC TOPMed gnomAD
rs146275324 CA7018881	1155	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs146275324 CA7018880	1155	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1415176622 CA388398567	1157	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7018879 rs760902252	1158	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1346976654 CA388398550	1159	I>M		No	ClinGen gnomAD
CA254159153 rs923403997	1159	I>N		No	ClinGen TOPMed
TCGA novel	1159	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs533884311 CA7018878	1159	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs772385215 CA7018876	1161	D>G		No	ClinGen ExAC TOPMed gnomAD
CA388398541 rs1194785037	1161	D>N		No	ClinGen TOPMed
rs774588723 CA7018874	1163	P>L		No	ClinGen ExAC
CA7018875 rs748340394	1163	P>S		No	ClinGen ExAC gnomAD
CA7018872 rs749593762	1164	G>S		No	ClinGen ExAC gnomAD
CA388398502 rs1442422778	1167	D>N		No	ClinGen gnomAD
rs1474906063 CA388398480	1170	L>I		No	ClinGen TOPMed
TCGA novel	1172	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355789609 CA388398464	1172	E>A		No	ClinGen gnomAD
CA388398413 rs1394328736	1179	V>A		No	ClinGen gnomAD
rs548257801 CA7018869	1181	Q>*		No	ClinGen 1000Genomes ExAC
CA7018868 rs757880054	1183	Q>H		No	ClinGen ExAC gnomAD
CA388398377 rs1168622109	1185	V>L		No	ClinGen gnomAD
CA7018865 rs764878414	1186	C>S		No	ClinGen ExAC gnomAD
rs754835483 CA7018864	1187	L>P		No	ClinGen ExAC gnomAD
rs1235810047 CA388398344	1190	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1481706677 CA388398346	1190	A>S		No	ClinGen TOPMed gnomAD
CA388398348 rs1481706677	1190	A>T		No	ClinGen TOPMed gnomAD
CA7018862 rs766458578	1193	R>M		No	ClinGen ExAC gnomAD
TCGA novel	1195	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7018861 rs760665091	1195	N>S		No	ClinGen ExAC gnomAD
rs773151365 CA7018860	1197	I>L		No	ClinGen ExAC gnomAD
rs371951064 CA7018859	1199	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761880861 CA7018858	1202	E>Q		No	ClinGen ExAC gnomAD
CA7018857 rs373949612	1203	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA254159050 rs936033278	1204	T>M		No	ClinGen TOPMed gnomAD
CA388397704 rs1289877726	1212	D>E		No	ClinGen gnomAD
CA7018839 rs767427977	1212	D>V		No	ClinGen ExAC gnomAD
CA388397698 rs1430559055	1213	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs979620829 CA254158619	1215	I>T		No	ClinGen TOPMed gnomAD
TCGA novel	1217	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA388397659 rs761854338	1218	K>N		No	ClinGen ExAC gnomAD
CA7018837 rs751652365	1219	I>F		No	ClinGen ExAC gnomAD
rs756859429	1219	I>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs756859429	1219	I>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7018833 rs11568639	1220	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7018834 rs200017194	1220	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA388397647 rs1435115731	1221	E>Q		No	ClinGen TOPMed
rs1191595225 CA388397606	1224	A>V		No	ClinGen gnomAD
rs1426725145 CA388397567	1227	T>I		No	ClinGen gnomAD
CA254158585 rs141672372	1228	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs141672372 CA7018831	1228	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs759879316 CA7018830	1230	T>I		No	ClinGen ExAC gnomAD
rs1277207404 CA388397538	1231	I>V		No	ClinGen TOPMed
rs1212693603 CA388397529	1232	A>T		No	ClinGen gnomAD
CA7018828 rs184544626	1235	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA7018827 rs184544626	1235	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1234979772 CA388397482	1235	L>W		No	ClinGen TOPMed
CA7018825 rs768231199	1237	T>A		No	ClinGen ExAC gnomAD
rs1019370520 CA388397435	1238	I>F		No	ClinGen TOPMed gnomAD
CA254158509 rs1019370520	1238	I>V		No	ClinGen TOPMed gnomAD
CA254158497 rs370210029	1239	I>S		No	ClinGen ESP TOPMed
CA7018824 rs375365855	1239	I>V		No	ClinGen ESP ExAC gnomAD
CA254158476 rs964890536	1240	D>E		No	ClinGen TOPMed gnomAD
CA7018822 rs755981724	1240	D>N		No	ClinGen ExAC gnomAD
rs11568640 CA388397373	1241	S>R		No	ClinGen ExAC TOPMed gnomAD
CA7018820 rs781054567	1244	I>M		No	ClinGen ExAC TOPMed gnomAD
CA388397297 rs1423191467	1245	M>I		No	ClinGen TOPMed
TCGA novel	1245	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1379103729 CA388396609	1246	V>I		No	ClinGen gnomAD
CA7018803 rs769480579	1249	S>L		No	ClinGen ExAC gnomAD
TCGA novel	1250	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374563885 CA7018802	1252	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs781020367 CA7018801	1253	K>E		No	ClinGen ExAC gnomAD
CA7018800 rs756956177	1256	D>G		No	ClinGen ExAC gnomAD
CA7018798 rs777625353	1258	P>L		No	ClinGen ExAC TOPMed gnomAD
rs148827070 CA7018795	1259	Y>C		No	ClinGen ESP ExAC TOPMed
CA7018796 rs575081939	1259	Y>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1238606054 CA388396383	1260	V>D		No	ClinGen gnomAD
CA388396389 rs1364082186	1260	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	1261	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA254151375 rs188936746	1262	L>M		No	ClinGen 1000Genomes
rs770411207 CA254151372	1264	N>T		No	ClinGen gnomAD
CA7018793 rs753955694	1265	K>E		No	ClinGen ExAC gnomAD
rs746655525 CA388396303	1265	K>R		No	ClinGen ExAC gnomAD
CA7018792 rs746655525	1265	K>T		No	ClinGen ExAC gnomAD
CA388396258 rs1593979527	1267	S>I		No	ClinGen Ensembl
TCGA novel	1270	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1156592519 CA388396216	1270	Y>H		No	ClinGen gnomAD
rs138512563 CA7018789	1272	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs762615043 CA7018788	1273	V>A		No	ClinGen ExAC gnomAD
rs1316297467 CA388396153	1273	V>L		No	ClinGen TOPMed
CA7018787 rs775106710	1275	Q>H		No	ClinGen ExAC gnomAD
rs1593979468 CA388396092	1276	L>R		No	ClinGen Ensembl
rs769378898 CA7018786	1280	E>K		No	ClinGen ExAC gnomAD
rs370348158 CA7018784	1282	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA254151276 rs141716134	1288	A>T		No	ClinGen ESP TOPMed gnomAD
CA7018781 rs777447817	1288	A>V		No	ClinGen ExAC gnomAD
rs758328249 CA7018780	1289	K>E		No	ClinGen ExAC gnomAD
rs1488306130 CA388395945	1290	Q>H		No	ClinGen TOPMed
CA7018779 rs748268663	1290	Q>R		No	ClinGen ExAC gnomAD
CA7018759 rs748113315	1291	V>L		No	ClinGen ExAC gnomAD
CA388394230 rs1192128720	1293	F>V		No	ClinGen gnomAD
CA388394208 rs1437465235	1294	K>E		No	ClinGen gnomAD
rs1468242223 CA388394196	1294	K>R		No	ClinGen gnomAD
rs768791698 CA7018757	1295	R>I		No	ClinGen ExAC gnomAD
rs768791698 CA7018758	1295	R>T		No	ClinGen ExAC gnomAD
rs749311333 CA7018756	1296	N>H		No	ClinGen ExAC gnomAD
rs780390465 CA7018755	1296	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1297	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1193722086 CA388394134	1297	Y>F		No	ClinGen TOPMed gnomAD
CA388394078 rs756372983	1299	H>L		No	ClinGen ExAC TOPMed gnomAD
rs756372983 CA7018754	1299	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1478967607 CA388394065	1300	I>V		No	ClinGen gnomAD
CA7018753 rs750865442	1302	H>D		No	ClinGen ExAC gnomAD
CA7018752 rs781705496	1303	T>A		No	ClinGen ExAC gnomAD
rs544510376 CA7018750	1306	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388393944 rs1316926378	1306	M>T		No	ClinGen TOPMed
rs1014989703 CA254144105	1306	M>V		No	ClinGen TOPMed
rs764451452 CA7018749	1307	V>I		No	ClinGen ExAC gnomAD
rs759143689 CA7018748	1308	T>I		No	ClinGen ExAC gnomAD
CA388393886 rs1260538247	1309	N>D		No	ClinGen TOPMed
rs753286826 CA7018747	1310	T>S		No	ClinGen ExAC gnomAD
rs766098998 CA7018746	1313	G>E		No	ClinGen ExAC gnomAD
rs760302007 CA7018745	1314	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA388393823 rs760302007	1314	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA254144081 rs11568688	1314	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11568688 CA7018744	1314	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs546745281 CA7018743	1315	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA388393804 rs1392543206	1315	P>S		No	ClinGen gnomAD
rs1454130025 CA388393788	1316	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1566347697 CA388393755	1319	T>A		No	ClinGen Ensembl
CA7018742 rs538744217	1319	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA388393741 rs1479740232	1320	I>L		No	ClinGen gnomAD
rs774401052 CA7018741	1320	I>T		No	ClinGen ExAC TOPMed gnomAD
rs147926143 CA254144056	1322	E>K		No	ClinGen ESP TOPMed gnomAD
CA7018739 rs749424670	1323	T>I		No	ClinGen ExAC gnomAD
CA388393685 rs1483371566	1323	T>S		No	ClinGen gnomAD
CA388393670 rs1358839699	1324	A>G		No	ClinGen TOPMed
CA7018738 rs201869271	1324	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA388393648 rs1346912676	1325	L>P		No	ClinGen TOPMed gnomAD
rs1346912676 CA388393653	1325	L>R		No	ClinGen TOPMed gnomAD
rs769943373 CA7018737	1326	L>R		No	ClinGen ExAC gnomAD

No associated diseases with O15439

3 regional properties for O15439

Type	Name	Position	InterPro Accession
domain	PDZ domain	1 - 80	IPR001478-1
domain	PDZ domain	268 - 345	IPR001478-2
domain	Formin, FH2 domain	812 - 1203	IPR015425

Functions

		Description
EC Number
Subcellular Localization	Basolateral cell membrane ; Multi-pass membrane protein Apical cell membrane ; Multi-pass membrane protein	Its localization to the basolateral or apical membranes is tissue-dependent
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
external side of apical plasma membrane	The leaflet the apical region of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
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.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
platelet dense granule membrane	The lipid bilayer surrounding the platelet dense granule.

15 GO annotations of molecular function

Name	Definition
15-hydroxyprostaglandin dehydrogenase (NAD+) activity	Catalysis of the reaction: (5Z,13E)-(15S)-11-alpha,15-dihydroxy-9-oxoprost-13-enoate + NAD+ = (5Z,13E)-11-alpha-hydroxy-9,15-dioxoprost-13-enoate + NADH + H+.
ABC-type bile acid transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: bile acid(in) + ATP + H2O -> bile acid(out) + ADP + phosphate.
ABC-type glutathione S-conjugate transporter activity	Catalysis of the reaction: ATP + H2O + glutathione S-conjugate(in) -> ADP + phosphate + glutathione S-conjugate(out).
ABC-type transporter activity	Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane.
ABC-type xenobiotic transporter activity	Catalysis of the reaction: ATP + H2O + xenobiotic(in) = ADP + phosphate + xenobiotic(out).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase-coupled inorganic anion transmembrane transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in).
ATPase-coupled transmembrane transporter activity	Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
efflux transmembrane transporter activity	Enables the transfer of a specific substance or related group of substances from the inside of the cell to the outside of the cell across a membrane.
glutathione transmembrane transporter activity	Enables the transfer of glutathione, the tripeptide glutamylcysteinylglycine, from one side of a membrane to the other.
guanine nucleotide transmembrane transporter activity	Enables the transfer of guanine nucleotides (GMP, GDP, and GTP) from one side of a membrane to the other.
prostaglandin transmembrane transporter activity	Enables the transfer of prostaglandins from one side of a membrane to the other. A prostaglandin is any of a group of biologically active metabolites which contain a cyclopentane ring due to the formation of a bond between two carbons of a fatty acid. They have a wide range of biological activities.
purine nucleotide transmembrane transporter activity	Enables the transfer of a purine nucleotide, any compound consisting of a purine nucleoside esterified with (ortho)phosphate, from one side of a membrane to the other.
urate transmembrane transporter activity	Enables the transfer of urate from one side of a membrane to the other. Urate is the anion of uric acid, 2,6,8-trioxypurine, the end product of purine metabolism in certain mammals and the main excretory product in uricotelic animals.
xenobiotic transmembrane transporter activity	Enables the directed movement of a xenobiotic from one side of a membrane to the other. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

13 GO annotations of biological process

Name	Definition
bile acid and bile salt transport	The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
cAMP transport	The directed movement of cyclic AMP (cAMP), into, out of or within a cell.
cilium assembly	The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
export across plasma membrane	The directed movement of some substance from inside of a cell, across the plasma membrane and into the extracellular region.
leukotriene transport	The directed movement of leukotrienes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Leukotrienes are linear C20 endogenous metabolites of arachidonic acid (icosa-5,8,11,14-tetraenoic acid) containing a terminal carboxy function and four or more double bonds (three or more of which are conjugated) as well as other functional groups.
platelet degranulation	The regulated exocytosis of secretory granules containing preformed mediators such as histamine and serotonin by a platelet.
prostaglandin secretion	The regulated release of a prostaglandin, any of a group of biologically active metabolites which contain a cyclopentane ring, from a cell or a tissue.
prostaglandin transport	The directed movement of prostaglandins into, out of or within a cell, or between cells, 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.
urate transport	The directed movement of urate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
xenobiotic metabolic process	The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
xenobiotic transmembrane transport	The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

24 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8HXQ5	ABCC1	Multidrug resistance-associated protein 1	Bos taurus (Bovine)	PR
Q2QLE5	CFTR	Cystic fibrosis transmembrane conductance regulator	Pan troglodytes (Chimpanzee)	PR
P91660	Rh5	Probable multidrug resistance-associated protein lethal(2)03659	Drosophila melanogaster (Fruit fly)	PR
O15438	ABCC3	ATP-binding cassette sub-family C member 3	Homo sapiens (Human)	PR
O95255	ABCC6	ATP-binding cassette sub-family C member 6	Homo sapiens (Human)	PR
Q92887	ABCC2	ATP-binding cassette sub-family C member 2	Homo sapiens (Human)	SS
P33527	ABCC1	Multidrug resistance-associated protein 1	Homo sapiens (Human)	PR
Q96J66	ABCC11	ATP-binding cassette sub-family C member 11	Homo sapiens (Human)	PR
P13569	CFTR	Cystic fibrosis transmembrane conductance regulator	Homo sapiens (Human)	PR
B2RX12	Abcc3	ATP-binding cassette sub-family C member 3	Mus musculus (Mouse)	PR
Q8VI47	Abcc2	ATP-binding cassette sub-family C member 2	Mus musculus (Mouse)	SS
P26361	Cftr	Cystic fibrosis transmembrane conductance regulator	Mus musculus (Mouse)	PR
O35379	Abcc1	Multidrug resistance-associated protein 1	Mus musculus (Mouse)	PR
Q80WJ6	Abcc12	ATP-binding cassette sub-family C member 12	Mus musculus (Mouse)	PR
Q6PQZ2	CFTR	Cystic fibrosis transmembrane conductance regulator	Sus scrofa (Pig)	PR
Q6Y306	Abcc12	ATP-binding cassette sub-family C member 12	Rattus norvegicus (Rat)	PR
Q8CG09	Abcc1	Multidrug resistance-associated protein 1	Rattus norvegicus (Rat)	PR
Q63120	Abcc2	ATP-binding cassette sub-family C member 2	Rattus norvegicus (Rat)	EV
Q00553	CFTR	Cystic fibrosis transmembrane conductance regulator	Macaca mulatta (Rhesus macaque)	PR
Q9C8G9	ABCC1	ABC transporter C family member 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C8H0	ABCC12	ABC transporter C family member 12	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9SKX0	ABCC13	ABC transporter C family member 13	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8VZZ4	ABCC6	ABC transporter C family member 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M1C7	ABCC9	ABC transporter C family member 9	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MLPVYQEVKP	NPLQDANLCS	RVFFWWLNPL	FKIGHKRRLE	EDDMYSVLPE	DRSQHLGEEL
70	80	90	100	110	120
QGFWDKEVLR	AENDAQKPSL	TRAIIKCYWK	SYLVLGIFTL	IEESAKVIQP	IFLGKIINYF
130	140	150	160	170	180
ENYDPMDSVA	LNTAYAYATV	LTFCTLILAI	LHHLYFYHVQ	CAGMRLRVAM	CHMIYRKALR
190	200	210	220	230	240
LSNMAMGKTT	TGQIVNLLSN	DVNKFDQVTV	FLHFLWAGPL	QAIAVTALLW	MEIGISCLAG
250	260	270	280	290	300
MAVLIILLPL	QSCFGKLFSS	LRSKTATFTD	ARIRTMNEVI	TGIRIIKMYA	WEKSFSNLIT
310	320	330	340	350	360
NLRKKEISKI	LRSSCLRGMN	LASFFSASKI	IVFVTFTTYV	LLGSVITASR	VFVAVTLYGA
370	380	390	400	410	420
VRLTVTLFFP	SAIERVSEAI	VSIRRIQTFL	LLDEISQRNR	QLPSDGKKMV	HVQDFTAFWD
430	440	450	460	470	480
KASETPTLQG	LSFTVRPGEL	LAVVGPVGAG	KSSLLSAVLG	ELAPSHGLVS	VHGRIAYVSQ
490	500	510	520	530	540
QPWVFSGTLR	SNILFGKKYE	KERYEKVIKA	CALKKDLQLL	EDGDLTVIGD	RGTTLSGGQK
550	560	570	580	590	600
ARVNLARAVY	QDADIYLLDD	PLSAVDAEVS	RHLFELCICQ	ILHEKITILV	THQLQYLKAA
610	620	630	640	650	660
SQILILKDGK	MVQKGTYTEF	LKSGIDFGSL	LKKDNEESEQ	PPVPGTPTLR	NRTFSESSVW
670	680	690	700	710	720
SQQSSRPSLK	DGALESQDTE	NVPVTLSEEN	RSEGKVGFQA	YKNYFRAGAH	WIVFIFLILL
730	740	750	760	770	780
NTAAQVAYVL	QDWWLSYWAN	KQSMLNVTVN	GGGNVTEKLD	LNWYLGIYSG	LTVATVLFGI
790	800	810	820	830	840
ARSLLVFYVL	VNSSQTLHNK	MFESILKAPV	LFFDRNPIGR	ILNRFSKDIG	HLDDLLPLTF
850	860	870	880	890	900
LDFIQTLLQV	VGVVSVAVAV	IPWIAIPLVP	LGIIFIFLRR	YFLETSRDVK	RLESTTRSPV
910	920	930	940	950	960
FSHLSSSLQG	LWTIRAYKAE	ERCQELFDAH	QDLHSEAWFL	FLTTSRWFAV	RLDAICAMFV
970	980	990	1000	1010	1020
IIVAFGSLIL	AKTLDAGQVG	LALSYALTLM	GMFQWCVRQS	AEVENMMISV	ERVIEYTDLE
1030	1040	1050	1060	1070	1080
KEAPWEYQKR	PPPAWPHEGV	IIFDNVNFMY	SPGGPLVLKH	LTALIKSQEK	VGIVGRTGAG
1090	1100	1110	1120	1130	1140
KSSLISALFR	LSEPEGKIWI	DKILTTEIGL	HDLRKKMSII	PQEPVLFTGT	MRKNLDPFNE
1150	1160	1170	1180	1190	1200
HTDEELWNAL	QEVQLKETIE	DLPGKMDTEL	AESGSNFSVG	QRQLVCLARA	ILRKNQILII
1210	1220	1230	1240	1250	1260
DEATANVDPR	TDELIQKKIR	EKFAHCTVLT	IAHRLNTIID	SDKIMVLDSG	RLKEYDEPYV
1270	1280	1290	1300	1310	1320
LLQNKESLFY	KMVQQLGKAE	AAALTETAKQ	VYFKRNYPHI	GHTDHMVTNT	SNGQPSTLTI

FETAL