AiPD: Autoinhibited Protein Database

P08183

Gene name	ABCB1
Protein name	ATP-dependent translocase ABCB1
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5243
EC number	7.6.2.1: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-56 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-56 (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 P08183

Entry ID	Method	Resolution	Chain	Position	Source
6C0V	EM	340 A	A	1-1280	PDB
6FN1	EM	358 A	A	32-1279	PDB
6FN4	EM	414 A	A	1-1279	PDB
6QEX	EM	360 A	A	1-1280	PDB
7A65	EM	390 A	A	1-1280	PDB
7A69	EM	320 A	A	1-1280	PDB
7A6C	EM	360 A	A	1-1280	PDB
7A6E	EM	360 A	A	1-1280	PDB
7A6F	EM	350 A	A	1-1280	PDB
7O9W	EM	350 A	A	1-1280	PDB
AF-P08183-F1	Predicted				AlphaFoldDB

1135 variants for P08183

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs202002337 RCV001334606 CA4328584	157	R>Q	Variant assessed as Somatic; 0.0 impact. Inflammatory bowel disease 13 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001335478 rs200823786 CA162470471	160	I>M	Inflammatory bowel disease 13 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_013361 RCV000835733 CA179699 rs2032582 RCV001028649 RCV000152717 RCV000014698	893	S>A	Inflammatory bowel disease 13 common allele; associated with susceptibility to IBD13; has decreased enzyme activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_013362 rs2032582 RCV000429867 CA179696 RCV000152713	893	S>T	Neoplasm of ovary rare allele [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002552432 CA368039869 RCV001029499 rs1584829608	1118	Q>E	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001028686 rs199676098 CA4327737 RCV002282429	1183	R>C	Inflammatory bowel disease 13 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs201459845 CA162474196	2	D>G		No	ClinGen Ensembl
TCGA novel	2	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1320562631 CA368094364	2	D>N		No	ClinGen gnomAD
CA4328724 rs747238624	5	G>V		No	ClinGen ExAC TOPMed gnomAD
rs780204251 CA4328723	6	D>H		No	ClinGen ExAC gnomAD
CA368094337 rs780204251	6	D>Y		No	ClinGen ExAC gnomAD
CA368094330 rs758755760	7	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs758755760 CA4328722	7	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1429920034 CA368094329	7	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA368094331 rs758755760	7	R>S		No	ClinGen ExAC TOPMed gnomAD
CA4328721 rs146259092	8	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA368094323 rs1373721748	8	N>T		No	ClinGen gnomAD
rs1348388210 CA368094309	10	G>E		No	ClinGen gnomAD
CA368094311 rs1457629148	10	G>R		No	ClinGen gnomAD
CA368094294 rs1430496324 COSM197671	12	K>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs779268249 CA4328720	12	K>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1092646 rs1390637727 CA368094278	14	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA368094280 rs1584914371	14	K>R		No	ClinGen Ensembl
TCGA novel	16	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760162850 CA4328715	17	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4328717 rs28381804 VAR_022276	17	F>L		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA4328716 rs763540261	17	F>S		No	ClinGen ExAC gnomAD
CA162474194 rs200061099	18	K>Q		No	ClinGen Ensembl
CA4328713 rs200915526	19	L>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA4328714 rs41304191	19	L>V		No	ClinGen ExAC TOPMed gnomAD
RCV001029248 CA4328712 rs9282564 VAR_014704	21	N>D		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA162474190 rs9282564	21	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs9282564 CA162474189	21	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	22	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754610572 CA4328694	26	D>V		No	ClinGen ExAC
TCGA novel	26	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368094180 rs1424498745	27	K>E		No	ClinGen TOPMed
CA368094178 rs1202446124	27	K>T		No	ClinGen gnomAD
RCV001029272 rs1584911190	28	K>missing		No	ClinVar dbSNP
CA162473763 rs112801674	28	K>R		No	ClinGen TOPMed
rs112801674 CA368094170	28	K>T		No	ClinGen TOPMed
rs1257107888 CA368094140	32	P>R		No	ClinGen gnomAD
rs751270575 CA4328693 RCV001028456	32	P>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001028457 CA368094132 rs1584911173	33	T>I		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	33	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1584911161 RCV001028459 CA368094129	34	V>G		No	ClinGen ClinVar Ensembl dbSNP
CA4328692 COSM1092644 rs533117495	34	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA162473762 rs934040996	35	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	38	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371192766 COSM485676 CA4328689	39	M>I	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA162473761 rs201917713	39	M>V		No	ClinGen TOPMed
TCGA novel	40	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4328671 COSM1698853 rs761584848	41	R>C	Variant assessed as Somatic; 0.0 impact. central_nervous_system skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs199551851 CA4328670 COSM1092642	41	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA162472589 rs201564736	42	Y>C		No	ClinGen TOPMed
CA4328668 rs759680987	43	S>A		No	ClinGen ExAC TOPMed gnomAD
RCV001028487 rs957318449 CA162472588	43	S>L		No	ClinGen ClinVar Ensembl dbSNP
CA4328667 rs774528779	44	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA162472587 rs774528779	44	N>H		No	ClinGen ExAC TOPMed gnomAD
CA162472586 rs1202183 VAR_055423	44	N>S		No	ClinGen UniProt Ensembl dbSNP
TCGA novel	47	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368093764 rs1250463898	47	D>Y		No	ClinGen gnomAD
rs139583955 CA4328666	48	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4328664 rs192850609	49	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202240722 CA4328665	49	L>S		No	ClinGen ExAC gnomAD
rs537546318 CA4328663	50	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781755669 CA4328661	51	M>T		No	ClinGen ExAC gnomAD
CA162472585 rs372174859	53	V>G		No	ClinGen Ensembl
TCGA novel	54	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1200080064 CA368093670	55	T>I		No	ClinGen TOPMed
rs1242728976 CA368093661	56	L>S		No	ClinGen TOPMed gnomAD
CA162472584 rs1032636546	57	A>V		No	ClinGen Ensembl
rs1584902466 RCV001029290	58	A>missing		No	ClinVar dbSNP
rs1584902462 CA368093641	58	A>G		No	ClinGen Ensembl
rs1584902458 CA368093636	59	I>L		No	ClinGen Ensembl
CA162472583 rs41315618	60	I>L		No	ClinGen Ensembl
CA368093606 rs1584902444	61	H>P		No	ClinGen Ensembl
CA368093610 rs1435532727	61	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1584902437 CA368093593 RCV001029291	62	G>V		No	ClinGen ClinVar Ensembl dbSNP
CA4328657 rs750056009	63	A>T		No	ClinGen ExAC TOPMed gnomAD
CA368093584 rs1388112904	63	A>V		No	ClinGen gnomAD
RCV001029292 CA368093570 rs1584902425	65	L>F		No	ClinGen ClinVar Ensembl dbSNP
RCV001029293 rs1584902411	67	L>missing		No	ClinVar dbSNP
rs1169254481 CA368093551	67	L>F		No	ClinGen TOPMed
rs865799545 CA162472582	68	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	71	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162472581 rs200177995	76	T>I		No	ClinGen Ensembl
TCGA novel	77	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs202150907 CA162472580	78	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202150907 CA4328654	78	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_055424 rs9282565 CA4328653	80	A>E		No	ClinGen UniProt ExAC dbSNP gnomAD
rs1584902369 CA368093378 RCV001029294	82	A>T		No	ClinGen ClinVar Ensembl dbSNP
CA368093369 rs1201503261	82	A>V		No	ClinGen gnomAD
TCGA novel	83	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001029295 rs764061195 CA4328652	84	N>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	86	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266957400 CA368093310	87	D>E		No	ClinGen TOPMed gnomAD
CA368093300 rs1257387920	88	L>R		No	ClinGen gnomAD
CA368093288 RCV001029297 rs1584902336	89	M>I		No	ClinGen ClinVar Ensembl dbSNP
CA368093294 rs35810889	89	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs35810889 CA4328651	89	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	90	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1311363553 CA368093271	91	N>D		No	ClinGen TOPMed gnomAD
rs751592416 CA4328649	91	N>S		No	ClinGen ExAC gnomAD
rs751592416 CA368093268	91	N>T		No	ClinGen ExAC gnomAD
CA368093247 rs1563063922	93	T>A		No	ClinGen Ensembl
CA4328647 rs763019957	93	T>I		No	ClinGen ExAC TOPMed gnomAD
rs528004506 CA4328646	94	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368091711 rs1345523838	96	S>N		No	ClinGen gnomAD
rs199807788 CA162470851	97	D>Y		No	ClinGen Ensembl
rs1273859083 CA368091682	98	I>S		No	ClinGen gnomAD
CA162470850 rs201641280	99	N>S		No	ClinGen Ensembl
CA162470849 rs200693386	100	D>G		No	ClinGen gnomAD
COSM1092639 CA368091651 rs1288374568	101	T>A	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
RCV001029312 rs1584890130 CA368091648	101	T>I		No	ClinGen ClinVar Ensembl dbSNP
COSM1187346 CA4328630 rs199607036 CA368091643	102	G>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4328629 rs763159622	102	G>V		No	ClinGen ExAC gnomAD
VAR_015001	103	F>L		No	UniProt
rs201396865 CA162470848	103	F>S		No	ClinGen Ensembl
CA4328628 rs750577831	104	F>L		No	ClinGen ExAC gnomAD
rs765543439 CA4328627	105	M>L		No	ClinGen ExAC gnomAD
rs765543439 CA368091614	105	M>V		No	ClinGen ExAC gnomAD
RCV001029313 CA368091582 rs1584890095	108	E>*		No	ClinGen ClinVar Ensembl dbSNP
VAR_018351	108	E>K		No	UniProt
CA4328625 rs189559454	109	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA162470847 rs201389507	110	D>G		No	ClinGen TOPMed gnomAD
rs769142496 CA4328624	110	D>N		No	ClinGen ExAC TOPMed gnomAD
rs761202837 CA368091549	111	M>L		No	ClinGen ExAC TOPMed gnomAD
rs761202837 CA4328623	111	M>V		No	ClinGen ExAC TOPMed gnomAD
CA368091526 rs1231090084	113	R>G		No	ClinGen gnomAD
CA368091080 rs374713722	114	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4328605 rs374713722	114	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA368091065 rs1366437650	116	Y>C		No	ClinGen gnomAD
rs1584886969 CA368091060	117	Y>D		No	ClinGen Ensembl
rs1584886962 CA368091058 RCV001029335	117	Y>F		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	117	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368091043 rs1428844378	119	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4328603 rs201352004	120	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA368091017 rs759986853	123	A>G		No	ClinGen ExAC TOPMed gnomAD
RCV001028518 rs759986853 CA4328602	123	A>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1310242458 CA368091007	125	V>L		No	ClinGen TOPMed gnomAD
CA368091009 rs1310242458	125	V>M		No	ClinGen TOPMed gnomAD
CA4328600 rs368578071	127	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs748883796 CA4328599	130	Y>H		No	ClinGen ExAC gnomAD
CA368090973 rs1185744873	131	I>V		No	ClinGen gnomAD
CA4328597 rs769545558	132	Q>*		No	ClinGen ExAC gnomAD
rs1248102071 CA368090934	136	W>*		No	ClinGen gnomAD
rs1410820663 CA368090924	137	C>*		No	ClinGen TOPMed gnomAD
CA368090926 rs1432167827	137	C>F		No	ClinGen TOPMed
CA4328594 rs754901302	141	G>V		No	ClinGen ExAC gnomAD
CA4328593 rs557338866	142	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1046070012 CA162470475	143	Q>R		No	ClinGen TOPMed gnomAD
rs61607171 CA4328592	144	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA368090887 rs1459866086	144	I>V		No	ClinGen gnomAD
rs1295245429 CA368090879	145	H>R		No	ClinGen TOPMed gnomAD
rs757337057 CA4328591	145	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	146	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4328590 rs754111890	151	F>I		No	ClinGen ExAC TOPMed gnomAD
CA162470474 rs754111890	151	F>L		No	ClinGen ExAC TOPMed gnomAD
CA162470473 rs199924747	152	F>V		No	ClinGen TOPMed
rs1563055802 CA368090820	153	H>R		No	ClinGen Ensembl
TCGA novel	154	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162470472 rs149518139	155	I>V		No	ClinGen ESP
RCV001028520 CA4328586 rs753065601	156	M>I		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs756530200 CA4328587	156	M>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1363838319 CA368090796 COSM1092638	157	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs202002337 COSM397874 CA4328585	157	R>L	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
TCGA novel	158	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001028521 rs1584886787	159	E>missing		No	ClinVar dbSNP
rs1183122171 CA368090770	161	G>C		No	ClinGen TOPMed
rs1184150141 CA368090758	162	W>C		No	ClinGen TOPMed gnomAD
rs765901566 CA4328582	163	F>V		No	ClinGen ExAC gnomAD
rs762489515 CA4328581	165	V>G		No	ClinGen ExAC gnomAD
RCV001028522 COSM747726 CA368090741 rs1584886768	165	V>M	lung [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA162470470 rs199509670	166	H>Y		No	ClinGen TOPMed gnomAD
rs769387998 CA4328579	167	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs776417319 CA4328577	168	V>A		No	ClinGen ExAC gnomAD
rs61122623 RCV001028523 CA4328578	168	V>I		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	169	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368090709 rs1584886727	170	E>G		No	ClinGen Ensembl
rs200753045 CA4328576	173	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4328574 rs199808236	174	R>*		No	ClinGen ExAC gnomAD
CA368090685 rs201280497	174	R>L		No	ClinGen ExAC TOPMed gnomAD
rs201280497 RCV001028525 CA4328573	174	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs375817253 CA4328571	175	L>F		No	ClinGen ESP ExAC gnomAD
RCV001028526 rs1584886694	176	T>missing		No	ClinVar dbSNP
TCGA novel	178	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	178	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201302394 CA162470425	179	V>A		No	ClinGen 1000Genomes
CA4328557 rs760430324	181	K>M		No	ClinGen ExAC TOPMed gnomAD
CA368090629 rs760430324	181	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1188362511 CA368090622	182	I>T		No	ClinGen TOPMed
COSM1137754 RCV000879421 rs60419673 CA4328556	183	N>S	kidney [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000014697 rs1128501 CA123373 VAR_015002	185	G>V	a colchicine-selected multidrug-resistant cell line; confers increased resistance to colchicine [UniProt]	No	ClinGen ClinVar UniProt Ensembl dbSNP
rs1455450939 CA368090595	186	I>T		No	ClinGen TOPMed
rs745836011 CA4328554	187	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4328553 rs143782625	188	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs200860057 CA162470421	188	D>V		No	ClinGen Ensembl
TCGA novel	190	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368090569 rs1381284304	190	I>T		No	ClinGen gnomAD
rs770008344 CA368090545 COSM747727 CA4328552	193	F>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC gnomAD NCI-TCGA
TCGA novel	197	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469108355 CA368090519	197	M>T		No	ClinGen gnomAD
rs201810386 CA162470420	197	M>V		No	ClinGen Ensembl
rs201234319 CA162470419	198	A>P		No	ClinGen Ensembl
rs748390713 CA4328551	199	T>A		No	ClinGen ExAC TOPMed
CA368090505 rs1403432068 RCV001029341	199	T>I		No	ClinGen ClinVar dbSNP gnomAD
rs781337433 CA4328550	200	F>L		No	ClinGen ExAC gnomAD
RCV001029342 CA368090498 rs1584886072	200	F>L		No	ClinGen ClinVar Ensembl dbSNP
CA368090483 rs1584886062 RCV001029343	203	G>R		No	ClinGen ClinVar Ensembl dbSNP
rs1584886053 CA368090464	205	I>M		No	ClinGen Ensembl
CA4328549 rs755346039	205	I>V		No	ClinGen ExAC gnomAD
rs1331678185 CA368090460	206	V>A		No	ClinGen TOPMed
CA4328548 rs371995997	210	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA162470417 rs950846830	210	R>H		No	ClinGen Ensembl
CA368090428 rs1584886037 RCV001029344	211	G>D		No	ClinGen ClinVar Ensembl dbSNP
CA162470416 rs867790464	212	W>*		No	ClinGen Ensembl
rs780427778 CA4328547	213	K>E		No	ClinGen ExAC TOPMed gnomAD
rs865986777 CA162470415	215	T>I		No	ClinGen Ensembl
TCGA novel	215	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001029345 rs758834776 CA4328546	220	A>T		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	220	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162470414 rs201669414	221	I>M		No	ClinGen TOPMed
CA162470413 rs138302009	222	S>G		No	ClinGen ESP TOPMed
rs1183298571 CA368090322	229	A>P		No	ClinGen TOPMed gnomAD
rs1183298571 CA368090323	229	A>T		No	ClinGen TOPMed gnomAD
CA4328544 rs200191280	230	A>G		No	ClinGen ExAC gnomAD
rs750938138 CA4328545	230	A>S		No	ClinGen ExAC gnomAD
CA4328543 rs201649109	231	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	232	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4328509 rs747181596	237	S>P		No	ClinGen ExAC gnomAD
TCGA novel	237	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs370448121 CA4328507	241	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	243	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780518645 CA162469887	244	L>F		No	ClinGen Ensembl
TCGA novel	245	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4328504 rs201722148	246	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA368088893 rs1214452761	247	Y>C		No	ClinGen gnomAD
rs1242341613 CA368088899	247	Y>H		No	ClinGen gnomAD
TCGA novel	248	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368088885 rs1444836423	248	A>T		No	ClinGen gnomAD
rs955978982	250	A>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4328501 rs755708192	250	A>P		No	ClinGen ExAC gnomAD
RCV001028546 CA368088846 rs1259527290	251	G>R		No	ClinGen ClinVar Ensembl dbSNP
CA368088821 RCV001028547 rs1584881721	253	V>I		No	ClinGen ClinVar Ensembl dbSNP
CA368088783 rs1313299337	255	E>D		No	ClinGen gnomAD
CA368088768 rs1362919289	256	E>A		No	ClinGen gnomAD
rs1362919289 CA368088770	256	E>G		No	ClinGen gnomAD
rs1216695241 CA368088779	256	E>K		No	ClinGen gnomAD
RCV001028549 CA368088748 rs1584881689	258	L>V		No	ClinGen ClinVar Ensembl dbSNP
rs1425167192 CA368088704	261	I>N		No	ClinGen gnomAD
VAR_055425 CA4328497 rs36008564 RCV000883246	261	I>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA368088695 rs1184324936	262	R>G		No	ClinGen TOPMed
rs202177823 CA4328496	262	R>K		No	ClinGen 1000Genomes ExAC gnomAD
CA368088672 rs1430155491	263	T>I		No	ClinGen gnomAD
rs200067310 CA162469884	265	I>T		No	ClinGen Ensembl
RCV001029351 CA368088640 rs1584881633	266	A>T		No	ClinGen ClinVar Ensembl dbSNP
rs773259441 CA4328494	266	A>V		No	ClinGen ExAC gnomAD
rs764072893 CA4328493	272	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1222604496 COSM1092634 CA368088545	273	E>*	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA368088541 rs1162562260	273	E>G		No	ClinGen TOPMed
rs202097303 CA4328492	275	E>*		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	276	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1297328873 CA368064074	277	Y>*		No	ClinGen gnomAD
rs767592386 CA4328471	278	N>S		No	ClinGen ExAC
rs200922799 CA162125998	280	N>H		No	ClinGen Ensembl
rs200148661 CA4328470	285	K>E		No	ClinGen ExAC TOPMed gnomAD
rs774696910 CA4328469	287	I>V		No	ClinGen ExAC gnomAD
rs1176774424 CA368063995	289	I>V		No	ClinGen gnomAD
CA4328468 rs771196019	292	A>V		No	ClinGen ExAC gnomAD
CA4328467 rs763416526	294	T>P		No	ClinGen ExAC gnomAD
CA162125978 rs200629342	296	N>S		No	ClinGen Ensembl
rs770289036 CA4328464	298	S>F		No	ClinGen ExAC gnomAD
CA4328462 rs780790071	299	I>V		No	ClinGen ExAC gnomAD
rs768339438 CA4328461	300	G>D		No	ClinGen ExAC gnomAD
rs1584875429 CA368063919 RCV001029370	301	A>T		No	ClinGen ClinVar Ensembl dbSNP
rs1203320017 CA368063909	302	A>G		No	ClinGen gnomAD
CA4328460 rs746654940	303	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1584875420 CA368063904 RCV001029371	303	F>Y		No	ClinGen ClinVar Ensembl dbSNP
rs1262510614 CA368063892	305	L>P		No	ClinGen TOPMed gnomAD
CA4328458 rs200676994	307	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA4328459 rs779792612	307	Y>H		No	ClinGen ExAC gnomAD
rs199591776 CA162125942	308	A>V		No	ClinGen Ensembl
rs1237664337 CA368063858	311	A>T		No	ClinGen TOPMed gnomAD
rs979090956 CA162125923	313	A>G		No	ClinGen Ensembl
rs1174023694 CA368063846	313	A>P		No	ClinGen TOPMed
rs1189919755 CA368063830	315	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4328456 rs778606266	315	W>C		No	ClinGen ExAC gnomAD
rs934392121 CA162125902	316	Y>C		No	ClinGen TOPMed
rs1045385582 CA162125894	319	T>A		No	ClinGen TOPMed gnomAD
rs753790377 CA4328454	319	T>N		No	ClinGen ExAC gnomAD
CA368063801 rs1363711355	320	L>S		No	ClinGen gnomAD
CA162125880 rs201444664	320	L>V		No	ClinGen gnomAD
rs1392678819 CA368063794	321	V>A		No	ClinGen TOPMed
rs767576038 CA4328453	321	V>I		No	ClinGen ExAC gnomAD
CA4328452 rs573094394	322	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1584875299 RCV001029373 CA368063775	325	E>K		No	ClinGen ClinVar Ensembl dbSNP
CA368063763 rs1330170800	326	Y>C		No	ClinGen TOPMed
CA162125851 rs202163510	329	G>R		No	ClinGen Ensembl
CA4328450 rs766673892	332	L>R		No	ClinGen ExAC
CA368063679 rs1354050546	337	S>Y		No	ClinGen gnomAD
rs773413194 CA4328422	338	V>L		No	ClinGen ExAC gnomAD
CA162123538 rs914518065	340	I>M		No	ClinGen Ensembl
CA368063658 RCV001028567 rs1584872372	341	G>R		No	ClinGen ClinVar Ensembl dbSNP
CA368063655 rs1584872367	341	G>V		No	ClinGen Ensembl
rs1584872360 RCV001028568	342	A>missing		No	ClinVar dbSNP
rs1368324209 CA368063652	342	A>T		No	ClinGen TOPMed
TCGA novel	344	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761114696 CA4328421	345	V>A		No	ClinGen ExAC gnomAD
rs771498736 CA4328419	348	A>T		No	ClinGen ExAC
rs770682446 CA4328416	352	I>T		No	ClinGen ExAC gnomAD
rs200966236 CA4328415	354	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1584872301 CA368063564 RCV001028570	355	F>Y		No	ClinGen ClinVar Ensembl dbSNP
rs1168879904 CA368063558	356	A>E		No	ClinGen gnomAD
CA162123493 rs777570345 COSM1092628	356	A>S	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777570345 CA4328414	356	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1168879904 CA368063556 RCV001028571	356	A>V		No	ClinGen ClinVar dbSNP gnomAD
rs1421770056 CA368063543	358	A>G		No	ClinGen gnomAD
CA368063538 rs1201676452	359	R>K		No	ClinGen gnomAD
CA162123488 rs199886416	360	G>A		No	ClinGen TOPMed gnomAD
rs1308529308 CA368063529	361	A>T		No	ClinGen gnomAD
CA162123470 rs201484093	361	A>V		No	ClinGen gnomAD
TCGA novel	362	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1269483312 CA368063499	365	I>N		No	ClinGen gnomAD
CA4328411 rs200671728	366	F>L		No	ClinGen ExAC TOPMed gnomAD
CA4328410 rs199766539	369	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs757574551 CA4328407	371	N>K		No	ClinGen ExAC gnomAD
rs931668312 CA162123449	371	N>S		No	ClinGen Ensembl
CA4328408 rs765605694	371	N>Y		No	ClinGen ExAC TOPMed
rs143333791 CA4328391	373	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs199578136 RCV001028579 CA4328390	374	S>N		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs754128242 CA4328389	377	S>G		No	ClinGen ExAC gnomAD
rs1453587307 CA368063301	377	S>N		No	ClinGen gnomAD
CA368063286 rs1394100410	378	Y>C		No	ClinGen TOPMed
CA4328387 rs762322710	379	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4328386 rs753217589	381	S>R		No	ClinGen ExAC TOPMed gnomAD
CA368063234 rs1410043164	382	G>E		No	ClinGen gnomAD
CA368063239 rs1356023286 COSM602532	382	G>R	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs767962530 CA4328385	383	H>N		No	ClinGen ExAC gnomAD
CA368063226 rs767962530	383	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV001028580 rs1584871955 CA368063189	385	P>L		No	ClinGen ClinVar Ensembl dbSNP
CA4328383 rs751032232	387	N>D		No	ClinGen ExAC gnomAD
CA368063162 rs1584871947 RCV001029383	387	N>K		No	ClinGen ClinVar Ensembl dbSNP
rs149196148 CA4328382	388	I>S		No	ClinGen ExAC TOPMed gnomAD
CA4328380 rs200199237	393	E>A		No	ClinGen ExAC gnomAD
rs201346512 CA4328381	393	E>K		No	ClinGen ExAC gnomAD
CA368063065 rs1285534379	395	R>G		No	ClinGen gnomAD
rs761558156 CA4328378	397	V>I		No	ClinGen ExAC gnomAD
CA4328377 rs144933300	398	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1247179537 CA368063008	399	F>S		No	ClinGen gnomAD
rs2229109 CA162123283	400	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
RCV000174262 VAR_015003 rs2229109 CA200911	400	S>N		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA368062976 rs746946995 RCV001029385	403	S>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA4328376 rs746946995	403	S>Y		No	ClinGen ExAC gnomAD
RCV001029386 CA368062974 rs1584871861	404	R>*		No	ClinGen ClinVar Ensembl dbSNP
CA4328375 rs201352027 COSM1452590	404	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs879151844 CA162123260	405	K>R		No	ClinGen Ensembl
rs200870777 CA4328374	406	E>K		No	ClinGen ExAC gnomAD
rs140214314 CA4328373	407	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4328372 rs777898226	407	V>G		No	ClinGen ExAC gnomAD
rs140214314 CA368062956	407	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	408	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1584871842 CA368062949 RCV001029387	408	K>R		No	ClinGen ClinVar Ensembl dbSNP
rs1584871639 RCV001029393 CA368062931	409	I>F		No	ClinGen ClinVar Ensembl dbSNP
rs1419793187 CA368062928	409	I>N		No	ClinGen gnomAD
rs921633135 CA162123137	410	L>S		No	ClinGen Ensembl
rs1476587846 CA368062912	412	G>S		No	ClinGen gnomAD
rs749429338 CA4328356	416	K>N		No	ClinGen ExAC gnomAD
CA162123124 rs201491802	416	K>R		No	ClinGen gnomAD
CA368062882 rs1364926780	417	V>M		No	ClinGen TOPMed
RCV001029395 CA368062867 rs1584871582	419	S>G		No	ClinGen ClinVar Ensembl dbSNP
CA368062848 RCV001029396 rs1584871577	420	G>E		No	ClinGen ClinVar Ensembl dbSNP
rs773368293 CA4328355	422	T>M		No	ClinGen ExAC TOPMed gnomAD
CA162123104 rs967941491	423	V>L		No	ClinGen TOPMed
CA162123093 rs913766377	424	A>T		No	ClinGen TOPMed
rs1216856095 CA368062769	427	G>E		No	ClinGen gnomAD
rs952222278 CA162123083	428	N>S		No	ClinGen gnomAD
rs201462032 CA4328353	431	C>W		No	ClinGen ExAC gnomAD
rs1584871513 CA368062704 RCV001028581	432	G>V		No	ClinGen ClinVar Ensembl dbSNP
rs201678613 CA4328352 RCV001028582	433	K>E		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA4328350 rs747479750 COSM747732	434	S>I	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA
RCV001028584 rs1584871494 CA368062683	434	S>R		No	ClinGen ClinVar Ensembl dbSNP
rs1291504646 CA368062637	436	T>I		No	ClinGen gnomAD
TCGA novel	437	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4328347 rs749859568	439	L>P		No	ClinGen ExAC gnomAD
rs756800740 CA4328345 RCV001028587	440	M>I		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA4328346 rs764807184	440	M>V		No	ClinGen ExAC gnomAD
TCGA novel	441	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368062538 RCV001028588 rs1584871437	442	R>T		No	ClinGen ClinVar Ensembl dbSNP
CA4328344 rs201725784	443	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV001028589 rs201725784 CA368062531	443	L>I		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1469116728 CA368062501	447	T>K		No	ClinGen TOPMed gnomAD
CA368062498 rs139611979 RCV001028590	448	E>*		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA4328343 rs139611979	448	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA368062483 rs1223199758	450	M>L		No	ClinGen gnomAD
rs201987648 CA162123027	450	M>R		No	ClinGen TOPMed gnomAD
rs201987648 CA162123036	450	M>T		No	ClinGen TOPMed gnomAD
rs1313046379 CA368062459	452	S>G		No	ClinGen gnomAD
CA162122902 rs202187982	454	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
RCV001029401 CA368062445 rs1584871159	454	D>N		No	ClinGen ClinVar Ensembl dbSNP
rs752505100 CA4328324	455	G>E		No	ClinGen ExAC gnomAD
CA368062433 rs1475629891	456	Q>E		No	ClinGen TOPMed
CA4328323 rs767429416	457	D>G		No	ClinGen ExAC gnomAD
rs1181024146 CA368062426	457	D>N		No	ClinGen TOPMed
COSM318429 rs1584871120 CA368062400 RCV001029402	460	T>N	lung [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA4328321 rs751575002	461	I>T		No	ClinGen ExAC gnomAD
rs1360458780 CA368062398	461	I>V		No	ClinGen gnomAD
rs761999329 CA4328320	462	N>K		No	ClinGen ExAC TOPMed gnomAD
rs559003378 CA4328318	463	V>L		No	ClinGen 1000Genomes ExAC
rs768822271 CA4328317	464	R>G		No	ClinGen ExAC gnomAD
CA4328316 rs760890850	464	R>M		No	ClinGen ExAC gnomAD
rs201178758 CA4328315	464	R>S		No	ClinGen ExAC gnomAD
CA4328314 rs772482084	467	R>Q		No	ClinGen ExAC gnomAD
COSM242734 rs1387356833 CA368062363	467	R>W	Variant assessed as Somatic; impact. endometrium central_nervous_system prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1187188802 CA368062351	469	I>V		No	ClinGen gnomAD
rs1455168926 CA368062341	470	I>T		No	ClinGen TOPMed
rs1488572511 CA368062336	471	G>C		No	ClinGen gnomAD
rs1584871048 CA368062335	471	G>D		No	ClinGen Ensembl
CA162122863 rs200183659	473	V>L		No	ClinGen ExAC gnomAD
CA4328313 rs200183659	473	V>M		No	ClinGen ExAC gnomAD
CA368062300 rs1389565545	476	E>D		No	ClinGen gnomAD
CA4328312 rs779516199	477	P>T		No	ClinGen ExAC gnomAD
CA162122854 rs930790323	479	L>F		No	ClinGen Ensembl
CA368062280 rs1345375955	480	F>L		No	ClinGen TOPMed
rs1361374723 CA368062268	481	A>D		No	ClinGen gnomAD
rs199720786 CA4328311	482	T>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	483	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338355304 CA368062225	488	I>V		No	ClinGen gnomAD
COSM1092624 CA4328308 rs142600685	489	R>C	endometrium central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs750696034 COSM1092623 CA162122805	489	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4328307 rs750696034	489	R>L		No	ClinGen ExAC gnomAD
rs781123430 CA4328306	490	Y>C		No	ClinGen ExAC gnomAD
rs754872565 CA4328305	492	R>C		No	ClinGen ExAC TOPMed gnomAD
rs199941458 CA4328304	492	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4328302 rs762825426	495	V>I		No	ClinGen ExAC TOPMed gnomAD
rs553667487 CA4328300	497	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4328299 rs760874215	498	D>G		No	ClinGen ExAC gnomAD
rs1171458375 CA368062163	498	D>Y		No	ClinGen TOPMed gnomAD
CA4328298 rs201761318	500	I>T		No	ClinGen ExAC gnomAD
CA368062134 rs1191361542	502	K>*		No	ClinGen gnomAD
rs772393045 CA4328297	504	V>L		No	ClinGen ExAC gnomAD
rs759995973 CA4328296	506	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4328295 rs771429713	507	A>G		No	ClinGen ExAC TOPMed gnomAD
rs771429713 CA4328294	507	A>V		No	ClinGen ExAC TOPMed gnomAD
rs982124468 CA162122721	508	N>K		No	ClinGen Ensembl
CA4328293 rs535338471	508	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA162122717 rs200942041	511	D>G		No	ClinGen Ensembl
rs1218688694 CA368062053	514	M>T		No	ClinGen gnomAD
CA4328292 rs148455513	514	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA368061992 rs1275791615	518	H>Q		No	ClinGen gnomAD
CA368062002 rs1468184660	518	H>Y		No	ClinGen TOPMed
CA4328278 rs774711495	521	D>G		No	ClinGen ExAC gnomAD
CA162122416 rs201159898	522	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368061841 rs1398389130	522	T>N		No	ClinGen gnomAD
CA4328277 rs201159898	522	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368061834 rs1324520636	523	L>V		No	ClinGen TOPMed
CA368061820 RCV001028601 rs1584870562	524	V>I		No	ClinGen ClinVar Ensembl dbSNP
rs773925485 CA4328276	526	E>D		No	ClinGen ExAC TOPMed gnomAD
rs867772567 CA162122401	526	E>V		No	ClinGen Ensembl
CA4328273 rs769400173	529	A>P		No	ClinGen ExAC gnomAD
rs769400173 RCV001028602 CA368061747	529	A>T		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA368061731 rs1477018410	531	L>W		No	ClinGen TOPMed gnomAD
CA4328270 rs768283170	532	S>G		No	ClinGen ExAC gnomAD
rs1274564250 CA368061725	532	S>T		No	ClinGen TOPMed
rs1584870522 RCV001028603 CA368061715	534	G>R		No	ClinGen ClinVar Ensembl dbSNP
rs1179026893 CA368061707	534	G>V		No	ClinGen gnomAD
rs989511697 CA162122348	535	Q>R		No	ClinGen Ensembl
CA4328269 rs746652079	536	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs200631297 CA162122344	536	K>R		No	ClinGen Ensembl
CA4328267 rs758194199 COSM158793	538	R>S	breast [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs201188762 CA368061607	540	A>S		No	ClinGen TOPMed gnomAD
CA162122322 rs201188762	540	A>T		No	ClinGen TOPMed gnomAD
CA368061579 rs778869420	541	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1353480925 CA368061593	541	I>V		No	ClinGen gnomAD
RCV001028604 CA368061576 rs1584870462	542	A>T		No	ClinGen ClinVar Ensembl dbSNP
CA4328264 rs757210054	543	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1374940464 RCV001028605 COSM1092619 CA368061550	543	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
rs1374940464 CA368061552	543	R>P		No	ClinGen gnomAD
CA4328262 rs202111093	544	A>T		No	ClinGen ExAC TOPMed gnomAD
CA162122302 rs974595753	544	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	545	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	545	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	546	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4328259 rs199852575	547	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4328258 rs763454753	547	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	548	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	549	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162122247 rs1018838697	549	P>S		No	ClinGen gnomAD
CA368061477 rs1018838697	549	P>T		No	ClinGen gnomAD
rs865945115 CA162122235	552	L>F		No	ClinGen Ensembl
CA368061373 rs762410817	555	D>A		No	ClinGen ExAC TOPMed gnomAD
CA4328255 rs762410817	555	D>G		No	ClinGen ExAC TOPMed gnomAD
CA368061350 rs1236320337	556	E>D		No	ClinGen gnomAD
rs371019082 CA4328254	557	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs370804452 CA4328253	558	T>M		No	ClinGen ESP ExAC gnomAD
CA4328250 rs201641803	561	L>F		No	ClinGen ExAC gnomAD
TCGA novel	562	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368061213 rs1177169246	565	S>N		No	ClinGen gnomAD
CA4328247 VAR_022277 rs28381902	566	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1355931317 CA368061178	567	A>T		No	ClinGen gnomAD
CA368061098 RCV001028607 rs1584870326	571	V>G		No	ClinGen ClinVar Ensembl dbSNP
CA4328244 RCV001028606 rs755085099	571	V>M		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs201155718 CA162122129	574	D>E		No	ClinGen Ensembl
rs770568187 CA162122147	574	D>N		No	ClinGen TOPMed gnomAD
CA162122134 rs199659428	574	D>V		No	ClinGen TOPMed
rs770568187 CA162122142	574	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	576	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169358648 CA368060428	576	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1423665718 CA368060431	576	A>P		No	ClinGen gnomAD
rs1021879980 CA162119332	578	K>R		No	ClinGen Ensembl
rs780182297 CA4328224	579	G>C		No	ClinGen ExAC TOPMed gnomAD
CA4328223 rs202017838	580	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4328222 rs202017838	580	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200224345 CA162119317	580	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA368060404 rs1375846757	581	T>A		No	ClinGen TOPMed
CA4328221 rs779414215	581	T>S		No	ClinGen ExAC gnomAD
TCGA novel	582	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368060390 rs1458392780	583	I>T		No	ClinGen gnomAD
rs1200702337 CA368060393	583	I>V		No	ClinGen TOPMed gnomAD
CA368060387 rs1257424474	584	V>M		No	ClinGen gnomAD
rs1224728157 CA368060377	585	I>T		No	ClinGen Ensembl
CA4328220 rs757734033	586	A>T		No	ClinGen ExAC gnomAD
rs201122883 CA4328219 RCV001029421	588	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs966775931 CA162119273	590	S>F		No	ClinGen TOPMed
CA4328218 rs764459400	591	T>A		No	ClinGen ExAC gnomAD
COSM3641919 rs28381914 CA4328217 VAR_022278	593	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA4328216 rs56107566	593	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs28381914 CA162119267	593	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1280797442 CA368060324	594	N>K		No	ClinGen TOPMed
rs767030297 CA4328215	595	A>T		No	ClinGen ExAC gnomAD
rs759177745 RCV001029422 CA368060316 COSM1550437	596	D>H	lung [Cosmic]	No	ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD
rs759177745 CA4328214	596	D>N		No	ClinGen ExAC gnomAD
CA4328212 rs199931362 COSM3698573	597	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA162119233 rs199931362	597	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1584866716 CA368060291 RCV001029423	598	I>V		No	ClinGen ClinVar Ensembl dbSNP
rs2235036 CA4328210 VAR_055426	599	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA4328208 rs748125208	600	G>A		No	ClinGen ExAC gnomAD
CA4328209 rs748125208	600	G>D		No	ClinGen ExAC gnomAD
rs201195687 CA162119227	601	F>I		No	ClinGen Ensembl
rs201365503 CA4328206	602	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201365503 CA368060229	602	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757574649 CA4328203	603	D>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4328205 rs746054969	603	D>H		No	ClinGen ExAC gnomAD
CA368060212 rs746054969	603	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	605	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749574370 CA4328202	606	I>F		No	ClinGen ExAC TOPMed gnomAD
rs749574370 CA368060160	606	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4328201 rs149359465	607	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	608	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368060069 rs1213042982	610	G>R		No	ClinGen gnomAD
rs57001392 CA4328200	613	D>Y		No	ClinGen ExAC gnomAD
CA4328198 rs767011913	614	E>D		No	ClinGen ExAC gnomAD
CA368059929 rs1242139767	615	L>H		No	ClinGen TOPMed gnomAD
rs1242139767 CA368059927	615	L>P		No	ClinGen TOPMed gnomAD
rs1277845808 CA368059934	615	L>V		No	ClinGen gnomAD
CA162119150 rs1048327054	616	M>I		No	ClinGen Ensembl
rs1308127826 CA368059903	616	M>K		No	ClinGen gnomAD
CA368059824 COSM318431 rs1435673611	619	K>E	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs765970736 CA4328195	620	G>D		No	ClinGen ExAC TOPMed gnomAD
CA4328193 rs772821889	623	F>L		No	ClinGen ExAC gnomAD
rs945867836 CA162119143	624	K>Q		No	ClinGen Ensembl
rs141018820 CA4328192	624	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160807373 CA368059639	627	T>P		No	ClinGen gnomAD
CA368059621 rs1420748687	628	M>V		No	ClinGen gnomAD
CA368059473 rs1373168864	631	A>T		No	ClinGen gnomAD
CA368059454 rs1584865692	632	G>R		No	ClinGen Ensembl
CA162118584 rs200457539	633	N>D		No	ClinGen Ensembl
rs1203228011 CA368059432	633	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764906803 CA4328172	635	V>A		No	ClinGen ExAC gnomAD
rs1265709861 CA368059390	636	E>*		No	ClinGen gnomAD
rs1265709861 CA368059393	636	E>K		No	ClinGen gnomAD
CA368059353 rs1480244258	638	E>A		No	ClinGen TOPMed
CA4328170 rs748496246	641	A>G		No	ClinGen ExAC gnomAD
TCGA novel	642	D>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4328169 rs201352373	642	D>V		No	ClinGen ESP ExAC gnomAD
rs528939709 CA4328167	646	S>I		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	646	S>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563044388 CA368059200	647	E>G		No	ClinGen Ensembl
CA4328166 rs771100656	647	E>K		No	ClinGen ExAC gnomAD
CA4328165 rs773525613	648	I>S		No	ClinGen ExAC TOPMed gnomAD
CA4328164 rs773525613	648	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1415499957 CA368059188	648	I>V		No	ClinGen gnomAD
rs1391697654 CA368059173	649	D>N		No	ClinGen gnomAD
CA368059148 rs200378616	650	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs200378616 CA4328163	650	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA368059080 rs1402478835	654	S>P		No	ClinGen gnomAD
rs1171481420 CA368059066	655	S>P		No	ClinGen TOPMed gnomAD
CA368059039 rs1478102663	656	N>K		No	ClinGen gnomAD
CA162118557 rs200376045	656	N>S		No	ClinGen Ensembl
CA368059023 rs1434727302	657	D>E		No	ClinGen gnomAD
CA4328161 rs781571880	657	D>G		No	ClinGen ExAC gnomAD
rs1372487776 CA368059036 RCV001028615	657	D>N		No	ClinGen ClinVar dbSNP gnomAD
rs1372487776 CA368059032	657	D>Y		No	ClinGen gnomAD
rs769089888 CA4328160	661	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4328158 rs35657960	662	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145840638 CA4328157	665	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA368058902 COSM1173340 rs1584865520	665	K>R	oesophagus [Cosmic]	No	ClinGen cosmic curated Ensembl
CA4328156 rs750020655	666	R>I		No	ClinGen ExAC gnomAD
RCV001028616 rs750020655 CA368058885	666	R>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA368058877 rs1563044327	667	S>P		No	ClinGen Ensembl
rs778576220 CA4328155	668	T>A		No	ClinGen ExAC gnomAD
rs35023033 CA4328153 VAR_055427	669	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4328152 rs146703713	669	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4328151 rs146703713	669	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA368058866 rs35023033	669	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201298259 CA4328150	670	R>K		No	ClinGen ExAC gnomAD
TCGA novel	671	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162118486 rs200178485	671	S>N		No	ClinGen gnomAD
CA162118490 rs983438430	671	S>R		No	ClinGen gnomAD
CA4328149 rs766339610	671	S>R		No	ClinGen ExAC gnomAD
rs200859389 CA4328147	673	R>C		No	ClinGen ExAC TOPMed gnomAD
rs184290374 CA4328146	673	R>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	677	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs59340265 CA4328145	679	D>E		No	ClinGen ExAC gnomAD
rs952145392 CA162118444	679	D>H		No	ClinGen gnomAD
CA162118407 rs201355162	680	R>G		No	ClinGen TOPMed
CA368058786 rs1323794979	682	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA368058787 rs1323794979	682	L>V		No	ClinGen TOPMed gnomAD
TCGA novel	683	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368058770 rs1027717457	684	T>I		No	ClinGen TOPMed gnomAD
CA162118394 rs1027717457	684	T>N		No	ClinGen TOPMed gnomAD
TCGA novel	687	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1043070641 CA162118393	687	A>P		No	ClinGen TOPMed
CA368058751 rs1271391029	687	A>V		No	ClinGen TOPMed
rs1189101528 CA368058174	689	D>G		No	ClinGen gnomAD
rs921088140 CA162118032	690	E>K		No	ClinGen TOPMed
CA368058138 rs1563044033	691	S>T		No	ClinGen Ensembl
CA4328126 rs764417353	692	I>V		No	ClinGen ExAC gnomAD
TCGA novel	693	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4328125 rs760977802	694	P>L		No	ClinGen ExAC gnomAD
CA4328123 rs772563512	701	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	703	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773899676 CA4328121	706	T>N		No	ClinGen ExAC gnomAD
TCGA novel	707	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1584864743 CA368057968 RCV001029434	707	E>V		No	ClinGen ClinVar Ensembl dbSNP
CA368057957 rs1331432775	708	W>C		No	ClinGen TOPMed
CA162117994 rs200727539	710	Y>*		No	ClinGen Ensembl
COSM1092612 CA368057913 rs1226611649	712	V>A	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA4328120 rs576829142	713	V>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1286029307 CA368057904	713	V>I		No	ClinGen gnomAD
CA4328119 rs748919574	714	G>A		No	ClinGen ExAC TOPMed gnomAD
RCV001029436 CA368057890 rs1584864725	714	G>S		No	ClinGen ClinVar Ensembl dbSNP
CA368057861 rs1205336910	716	F>L		No	ClinGen TOPMed
CA368057838 rs1584864714 RCV001029438	717	C>Y		No	ClinGen ClinVar Ensembl dbSNP
rs1563043965 CA368057811	719	I>V		No	ClinGen Ensembl
CA162117969 rs1020594116	720	I>L		No	ClinGen TOPMed gnomAD
rs1020594116 CA368057804	720	I>V		No	ClinGen TOPMed gnomAD
rs1298586570 CA368057795	721	N>S		No	ClinGen TOPMed gnomAD
TCGA novel	725	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755856690 CA4328116	725	Q>R		No	ClinGen ExAC gnomAD
CA4328114 rs780857986	727	A>V		No	ClinGen ExAC gnomAD
rs754891060 CA368057749	728	F>L		No	ClinGen ExAC gnomAD
rs1419673180 CA368057729	731	I>M		No	ClinGen TOPMed gnomAD
rs1392639104 CA368057705	735	I>V		No	ClinGen TOPMed
CA162117929 rs41316450	736	I>K		No	ClinGen Ensembl
rs200519232 CA162117933	736	I>L		No	ClinGen gnomAD
CA162117923 rs199580885	736	I>M		No	ClinGen Ensembl
CA368057247 rs1296251129	738	V>I		No	ClinGen gnomAD
rs769508094 CA4328096	740	T>I		No	ClinGen ExAC TOPMed gnomAD
COSM747738 CA368057224 rs1359542599	741	R>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA4328095 rs747772100	744	D>E		No	ClinGen ExAC gnomAD
rs756214997	744	D>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA368057194 RCV001028637 rs1584861968	745	P>L		No	ClinGen ClinVar Ensembl dbSNP
RCV001028638 rs1584861959 CA368057191	746	E>K		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	746	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1584861940 RCV001028640 CA368057174	747	T>I		No	ClinGen ClinVar Ensembl dbSNP
CA368057180 RCV001028639 rs1584861948	747	T>S		No	ClinGen ClinVar Ensembl dbSNP
rs1323297861 CA368057152 COSM78860	749	R>*	lung ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs754765644 COSM1452582 CA4328093	749	R>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs754765644 CA4328092 COSM1643400	749	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4328091 rs200152744	753	N>D		No	ClinGen ExAC TOPMed gnomAD
CA368057073 rs1408739324	754	L>F		No	ClinGen TOPMed gnomAD
CA368057075 rs1271272875	754	L>W		No	ClinGen TOPMed
CA162116157 rs975854106	757	L>P		No	ClinGen TOPMed gnomAD
CA368057028 rs1453981427	758	L>*		No	ClinGen gnomAD
CA162116155 rs375295612	759	F>V		No	ClinGen ESP TOPMed
rs1251424548 CA368057004	760	L>V		No	ClinGen gnomAD
rs1584861827 CA368056993	761	A>T		No	ClinGen Ensembl
CA4328090 rs779916152	765	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	766	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162116132 rs149038363	768	I>V		No	ClinGen ESP TOPMed gnomAD
CA368056893 rs1250849808	769	T>A		No	ClinGen gnomAD
rs753847579 CA4328088	772	L>H		No	ClinGen ExAC gnomAD
rs199564535 CA4328068	774	G>R		No	ClinGen ExAC gnomAD
CA162114933 rs372521819	776	T>K		No	ClinGen ESP
CA368056563 rs1381927860	777	F>L		No	ClinGen gnomAD
CA368056541 rs1369989041	779	K>E		No	ClinGen TOPMed
CA162114927 rs889231869	780	A>T		No	ClinGen Ensembl
CA368056505 RCV001029453 rs1584859927	781	G>R		No	ClinGen ClinVar Ensembl dbSNP
CA368056422 rs1220754414	785	T>S		No	ClinGen TOPMed
CA368056393 rs200903110 COSM602539	787	R>W	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA368056361 rs1373964332 COSM197664	789	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA162114914 RCV001029455 rs199779996	789	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA4328064 rs201661522	791	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4328065 rs756188258	791	M>V		No	ClinGen ExAC gnomAD
CA368056303 rs1216670269 COSM1092609	792	V>I	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs201249149 CA4328062	794	R>L		No	ClinGen ExAC TOPMed gnomAD
RCV001029457 CA4328061 rs201249149	794	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs201418528 CA4328059	795	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA368056251 rs766867299	795	S>P		No	ClinGen ExAC gnomAD
rs766867299 CA4328060	795	S>T		No	ClinGen ExAC gnomAD
rs751041906 CA4328058	797	L>I		No	ClinGen ExAC TOPMed gnomAD
CA4328036 rs201142514	800	D>E		No	ClinGen ExAC gnomAD
CA162113301 rs41305517	800	D>N		No	ClinGen Ensembl
TCGA novel	801	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162113296 VAR_055428 rs2235039	801	V>M		No	ClinGen UniProt Ensembl dbSNP
rs199856295 CA162113295	809	N>S		No	ClinGen Ensembl
CA162113290 rs764059820	812	G>R		No	ClinGen TOPMed
CA4328035 rs201744003	813	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA162113286 rs201744003	813	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs200754866 CA4328032	819	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200754866 CA4328031 COSM1452580	819	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA368055781 rs1334428451	821	D>G		No	ClinGen TOPMed
TCGA novel	821	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368055761 rs1289543302	823	A>T		No	ClinGen TOPMed
rs1455293604 CA368055698	827	G>E		No	ClinGen gnomAD
VAR_055429 CA162111000 rs2032581	829	I>V		No	ClinGen UniProt dbSNP gnomAD
CA368055296 rs767089531	830	G>D		No	ClinGen ExAC TOPMed gnomAD
CA368055298 rs1199081702	830	G>S		No	ClinGen TOPMed
CA4328014 rs767089531	830	G>V		No	ClinGen ExAC TOPMed gnomAD
CA368055263 rs1280076381	833	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	833	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1280076381 CA368055265	833	L>V		No	ClinGen TOPMed gnomAD
CA162110967 rs200496828	836	I>N		No	ClinGen Ensembl
CA4328011 rs28381967 VAR_022279	836	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4328010 rs762765487	837	T>A		No	ClinGen ExAC gnomAD
CA4328009 rs773262840	839	N>S		No	ClinGen ExAC gnomAD
rs773262840 CA368055155	839	N>T		No	ClinGen ExAC gnomAD
CA368055145 rs1584853278	840	I>V		No	ClinGen Ensembl
CA368055130 COSM1550441 rs1416566507	841	A>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	842	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	843	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773175021 CA162110959	846	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368055075 rs1191107366	846	G>R		No	ClinGen TOPMed
CA368055060 rs1432480917	847	I>V		No	ClinGen gnomAD
TCGA novel	848	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs36105130 CA162110939	849	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1158620384 CA368054997	851	F>Y		No	ClinGen gnomAD
rs747022752 CA368054970	852	I>M		No	ClinGen ExAC TOPMed gnomAD
CA4328006 rs371274259	853	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	853	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162110919 rs557586335	853	Y>N		No	ClinGen 1000Genomes
TCGA novel rs746152564 CA4328004	855	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA162110914 rs201741691	860	L>F		No	ClinGen Ensembl
rs1000911090 CA162110912	861	L>P		No	ClinGen TOPMed
CA368054828 rs1295312177	862	L>S		No	ClinGen TOPMed
rs749745819 CA4328001	864	I>T		No	ClinGen ExAC gnomAD
CA4328002 rs539556127	864	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4328000 rs778283893	866	P>S		No	ClinGen ExAC
rs1380560733 CA368054760	867	I>M		No	ClinGen TOPMed
rs1584853152 RCV001028644 CA368054695	873	V>G		No	ClinGen ClinVar Ensembl dbSNP
rs565619660 CA4327999	874	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
RCV001028645 rs1584853146 CA368054686	874	V>I		No	ClinGen ClinVar Ensembl dbSNP
CA368054646 rs1584853136 RCV001028646	876	M>R		No	ClinGen ClinVar Ensembl dbSNP
CA368054600 rs1356091019	878	M>L		No	ClinGen gnomAD
rs1325417202 CA368054504	882	Q>E		No	ClinGen gnomAD
rs147823195 CA4327995	883	A>S		No	ClinGen ESP ExAC gnomAD
RCV001028647 CA4327996 rs147823195	883	A>T		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA4327993 rs375296280	884	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	885	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001028648 rs1292455657 CA368054417	886	D>N		No	ClinGen ClinVar TOPMed dbSNP
VAR_035737	887	K>N	a colorectal cancer sample; somatic mutation [UniProt]	No	UniProt
rs772319458 CA4327990	894	G>R		No	ClinGen ExAC gnomAD
rs1456434795 CA368054194	895	K>T		No	ClinGen Ensembl
rs532094830	896	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs532094830 CA4327973	896	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1219195402 CA368050341	896	I>N		No	ClinGen gnomAD
CA4327972 rs147487745	897	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4327971 rs767693167	898	T>A		No	ClinGen ExAC TOPMed gnomAD
rs138472105 CA162103148	900	A>T		No	ClinGen 1000Genomes gnomAD
CA368050311 rs1441208915	901	I>M		No	ClinGen gnomAD
rs1305120399 CA368050312	901	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	902	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563032433 CA368050298	903	N>S		No	ClinGen Ensembl
rs1244089186 CA368050290	904	F>S		No	ClinGen TOPMed
CA4327970 rs759603974	905	R>*		No	ClinGen ExAC gnomAD
rs774299788 CA4327969	905	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs573245329 CA368050268	907	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573245329 CA4327968	907	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1349553183 CA368050259	908	V>I		No	ClinGen Ensembl
rs773542500 CA4327966	913	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4327965 rs770181793	915	K>N		No	ClinGen ExAC gnomAD
rs1234949048 CA368050143 COSM1243951	915	K>T	oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA4327964 rs748646739	918	H>Y		No	ClinGen ExAC gnomAD
rs201740660 CA4327963	919	M>K		No	ClinGen ExAC TOPMed gnomAD
rs201740660 CA4327962	919	M>T		No	ClinGen ExAC TOPMed gnomAD
CA368050003 rs377518806	923	S>I		No	ClinGen ESP gnomAD
CA162103125 rs377518806	923	S>N		No	ClinGen ESP gnomAD
CA368050000 rs1481562306	923	S>R		No	ClinGen gnomAD
rs746491990 CA4327961	925	Q>K		No	ClinGen ExAC gnomAD
CA4327960 rs201316099	926	V>I		No	ClinGen ExAC TOPMed gnomAD
CA368049954 rs201316099	926	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4327957 rs148718120	928	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA162103114 rs947331479	929	R>G		No	ClinGen Ensembl
TCGA novel	929	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368049712 rs1233953132	930	N>H		No	ClinGen gnomAD
rs1584840650 RCV001029474 CA368049687	931	S>P		No	ClinGen ClinVar Ensembl dbSNP
CA4327935 rs749050513	932	L>S		No	ClinGen ExAC gnomAD
CA368049633 rs1290803512	934	K>R		No	ClinGen gnomAD
CA4327933 rs200811596	937	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA368049553 rs1157098297	939	G>R		No	ClinGen gnomAD
rs1455566610 CA368049511	941	T>I		No	ClinGen TOPMed gnomAD
rs1489594324 CA368049469	944	F>S		No	ClinGen TOPMed
CA4327931 rs766473800	945	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV001029475 CA368049439 rs1584840613	946	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs750510915 CA4327929	947	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4327928 rs765372820	948	M>T		No	ClinGen ExAC gnomAD
rs1253848627 CA368049409	948	M>V		No	ClinGen gnomAD
rs1486026524 CA368049372	950	Y>C		No	ClinGen gnomAD
CA368049343 rs1259613365	952	S>T		No	ClinGen gnomAD
rs764408569 CA4327925	953	Y>C		No	ClinGen ExAC gnomAD
rs371370057 CA4327926	953	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	954	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162102780 rs201357626	956	C>Y		No	ClinGen gnomAD
COSM2156767 rs144369247 CA4327921	958	R>Q	Variant assessed as Somatic; 0.0001386 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs200280095 COSM2154823 CA4327922	958	R>W	Variant assessed as Somatic; 0.0001387 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4327920 rs759050765	963	L>F		No	ClinGen ExAC gnomAD
CA368049157 rs1395355925	963	L>S		No	ClinGen gnomAD
rs1457360738 CA368049136	964	V>M		No	ClinGen TOPMed gnomAD
CA162102770 rs202110704 COSM353550	966	H>N	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
TCGA novel	966	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV001029476 rs770657790 CA4327918	972	E>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs149638669 CA162102763	973	D>A		No	ClinGen ESP gnomAD
CA4327917 rs748995428	973	D>N		No	ClinGen ExAC gnomAD
rs748995428 CA368048922	973	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4327916 rs777591929	974	V>I		No	ClinGen ExAC gnomAD
TCGA novel	977	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4327896 rs781068922	978	F>I		No	ClinGen ExAC gnomAD
rs572038993 CA4327895	980	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs746992715 CA4327894	983	F>L		No	ClinGen ExAC gnomAD
CA368047482 rs1441051651	983	F>S		No	ClinGen TOPMed
CA368047412 rs1306027704 RCV001029481	985	A>D		No	ClinGen ClinVar dbSNP gnomAD
rs1306027704 CA368047408	985	A>G		No	ClinGen gnomAD
CA4327893 rs778961519	986	M>I		No	ClinGen ExAC gnomAD
rs1269015981 CA368047379	986	M>T		No	ClinGen TOPMed
VAR_018352 rs926081975 CA162101962	986	M>V		No	ClinGen UniProt Ensembl dbSNP
TCGA novel	987	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1359447217 CA368047330	987	A>V		No	ClinGen TOPMed
rs921640760 CA162101951	988	V>G		No	ClinGen Ensembl
rs753967146 CA4327891	988	V>M		No	ClinGen ExAC TOPMed gnomAD
rs374210543 CA4327890	989	G>V		No	ClinGen ESP ExAC gnomAD
rs56849127 CA368047228	992	S>I		No	ClinGen gnomAD
CA162101944 rs56849127	992	S>N		No	ClinGen gnomAD
TCGA novel	993	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	993	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756391728 CA4327889	998	Y>S		No	ClinGen ExAC gnomAD
CA368047118 rs72552784	999	A>S		No	ClinGen TOPMed
CA162101938 VAR_015004 COSM1673260 rs72552784	999	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt TOPMed dbSNP
CA4327888 rs752955240	1001	A>G		No	ClinGen ExAC gnomAD
rs1213524837 CA368047069	1001	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368046896 rs1279830740	1007	H>R		No	ClinGen gnomAD
CA162101932 rs199882044	1009	I>T		No	ClinGen Ensembl
rs201974955 CA4327885	1010	M>V		No	ClinGen ExAC TOPMed gnomAD
CA368046800 rs1239674801	1011	I>F		No	ClinGen gnomAD
rs765970394 CA4327884	1013	E>D		No	ClinGen ExAC gnomAD
rs1584836849 CA368046660	1015	T>A		No	ClinGen Ensembl
rs145774816 CA4327883	1015	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1015	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1016	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355889810 CA368046625	1016	P>R		No	ClinGen TOPMed gnomAD
CA368046513 rs1327938429	1019	D>E		No	ClinGen TOPMed gnomAD
rs772778438 CA4327882	1019	D>N		No	ClinGen ExAC gnomAD
CA368046441 rs1386411918	1022	S>G		No	ClinGen TOPMed gnomAD
rs1158715642 CA368046422	1022	S>R		No	ClinGen gnomAD
rs1386411918 CA368046439	1022	S>R		No	ClinGen TOPMed gnomAD
rs1162482512 CA368046416	1023	T>A		No	ClinGen TOPMed
rs142183184 CA4327880	1023	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs768507751 CA368046319	1025	G>A		No	ClinGen ExAC gnomAD
rs768507751 CA4327878	1025	G>D		No	ClinGen ExAC gnomAD
rs1317094548 CA368046328	1025	G>S		No	ClinGen TOPMed
rs1584836737 CA368046246 RCV001029482	1027	M>I		No	ClinGen ClinVar Ensembl dbSNP
rs199819428 CA4327876	1027	M>K		No	ClinGen ExAC TOPMed gnomAD
rs553790901 CA4327877	1027	M>L		No	ClinGen 1000Genomes ExAC gnomAD
CA162101913 rs199819428	1027	M>T		No	ClinGen ExAC TOPMed gnomAD
rs2235044	1028	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs371977867 CA4327875	1028	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA368046215 rs1432511771	1028	P>S		No	ClinGen TOPMed
CA4327857 rs771856280	1029	N>S		No	ClinGen ExAC TOPMed gnomAD
CA162101623 rs201542635	1030	T>A		No	ClinGen TOPMed
CA4327856 rs745866303	1031	L>S		No	ClinGen ExAC gnomAD
rs769980649 CA4327854	1032	E>G		No	ClinGen ExAC gnomAD
TCGA novel	1034	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs896954671 CA368044798 COSM1195596	1036	T>I	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs896954671 CA162101613	1036	T>K		No	ClinGen gnomAD
CA4327852 rs781503569	1037	F>L		No	ClinGen ExAC TOPMed gnomAD
CA162101605 rs200256019	1038	G>D		No	ClinGen Ensembl
CA4327851 rs201819590	1040	V>A		No	ClinGen ExAC gnomAD
CA4327850 rs200968469	1041	V>I		No	ClinGen ExAC gnomAD
TCGA novel	1042	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1563029319 CA368044580 COSM4162485	1043	N>K	thyroid [Cosmic]	No	ClinGen cosmic curated Ensembl
CA4327849 rs780583874	1044	Y>F		No	ClinGen ExAC gnomAD
rs957765239 CA162101599	1045	P>A		No	ClinGen TOPMed gnomAD
rs957765239 CA368044536	1045	P>T		No	ClinGen TOPMed gnomAD
CA368044487 rs1439277801	1046	T>I		No	ClinGen gnomAD
CA4327848 rs758803493	1046	T>P		No	ClinGen ExAC gnomAD
CA4327847 rs751009298	1047	R>*		No	ClinGen ExAC TOPMed gnomAD
rs756736504 CA4327845 RCV001028664 COSM375251	1048	P>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA4327846 rs778275248	1048	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1049	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760344941 CA4327842	1050	I>F		No	ClinGen ExAC TOPMed gnomAD
rs760344941 CA4327843	1050	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4327841 VAR_022280 rs28401798	1051	P>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1370593595 CA368044330	1052	V>A		No	ClinGen gnomAD
CA368044277 rs1409934524	1053	L>P		No	ClinGen TOPMed
TCGA novel	1054	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774405049 CA4327838	1055	G>E		No	ClinGen ExAC TOPMed gnomAD
rs199891187 CA4327839	1055	G>R		No	ClinGen ExAC TOPMed gnomAD
CA4327837 rs770785509	1057	S>R		No	ClinGen ExAC gnomAD
rs1447617813 CA368044121	1058	L>V		No	ClinGen TOPMed
rs1377559224 CA368044098	1059	E>*		No	ClinGen gnomAD
CA368044072 RCV001028665 rs1584834930	1060	V>M		No	ClinGen ClinVar Ensembl dbSNP
rs1235695290 CA368044040	1061	K>N		No	ClinGen TOPMed
rs1369130405 CA368044047 COSM1243948	1061	K>R	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA368044009 rs1432613672	1062	K>N		No	ClinGen gnomAD
CA368044016 rs1584834899 RCV001028666	1062	K>R		No	ClinGen ClinVar Ensembl dbSNP
CA162101572 rs2707944	1063	G>A		No	ClinGen Ensembl
CA4327836 rs761914266 RCV001028667	1063	G>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	1064	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776877163 CA4327835 COSM1243953	1065	T>M	Variant assessed as Somatic; 0.0 impact. oesophagus urinary_tract breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA162101565 rs867333461	1066	L>P		No	ClinGen Ensembl
CA162101563 rs780279896	1067	A>D		No	ClinGen ExAC TOPMed gnomAD
rs201951511 CA4327833	1067	A>T		No	ClinGen ExAC gnomAD
CA4327832 rs780279896	1067	A>V		No	ClinGen ExAC TOPMed gnomAD
rs772547356 CA4327831	1068	L>V		No	ClinGen ExAC gnomAD
rs1584834839 CA368043847	1069	V>G		No	ClinGen Ensembl
rs1433103757 CA368043786	1072	S>N		No	ClinGen TOPMed gnomAD
CA162101558 rs201184403	1072	S>R		No	ClinGen Ensembl
rs1198742227 CA368043768	1073	G>A		No	ClinGen TOPMed
rs746235474 CA4327830	1074	C>W		No	ClinGen ExAC gnomAD
rs1025622951 CA162101556	1074	C>Y		No	ClinGen TOPMed gnomAD
rs1584834796 RCV001028671 CA368043728	1075	G>E		No	ClinGen ClinVar Ensembl dbSNP
CA162101550 rs201870318	1076	K>E		No	ClinGen Ensembl
CA368043692 rs1431158619	1077	S>N		No	ClinGen TOPMed
rs200192869 CA368043674	1078	T>A		No	ClinGen ExAC TOPMed gnomAD
rs200192869 CA4327829	1078	T>P		No	ClinGen ExAC TOPMed gnomAD
rs200192869 CA162101546	1078	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1584834746 CA368043639	1079	V>G		No	ClinGen Ensembl
CA368043651 rs1377795423 RCV001028672	1079	V>M		No	ClinGen ClinVar TOPMed dbSNP
CA368043618 rs1288076350	1080	V>A		No	ClinGen gnomAD
CA368043617 rs1288076350	1080	V>G		No	ClinGen gnomAD
CA368043626 rs1475311087	1080	V>I		No	ClinGen TOPMed
CA162101538 rs201642705	1081	Q>R		No	ClinGen Ensembl
CA4327825 rs755734139	1083	L>P		No	ClinGen ExAC gnomAD
CA4327826 rs200514028	1083	L>V		No	ClinGen ExAC TOPMed gnomAD
CA368043551 rs1403103790	1084	E>Q		No	ClinGen TOPMed
rs201765972 CA4327822	1085	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs199943026 COSM69485 CA4327823	1085	R>W	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA368043511 rs1584834667	1086	F>V		No	ClinGen Ensembl
CA4327820 rs57521326	1088	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1090	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368043380 rs1412681422	1091	A>G		No	ClinGen gnomAD
CA4327818 rs776827328 RCV001028673	1093	K>E		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA368043332 rs1584834623 RCV001028674	1094	V>G		No	ClinGen ClinVar Ensembl dbSNP
CA4327817 rs768927661	1094	V>M		No	ClinGen ExAC gnomAD
CA368040659 rs1563026580	1096	L>F		No	ClinGen Ensembl
RCV001029496 rs1584829753	1097	D>missing		No	ClinVar dbSNP
CA162099945 rs41309225	1099	K>E		No	ClinGen ExAC gnomAD
CA4327797 rs41309225	1099	K>Q		No	ClinGen ExAC gnomAD
CA368040336 rs1470273650	1103	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368040333 rs1266372866	1103	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4327794 rs148897157	1106	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs774748307 CA4327793	1107	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA4327792 rs55852620 RCV000903000 VAR_015005 RCV001029497	1107	Q>P		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1334153891 CA368040204	1108	W>*		No	ClinGen TOPMed
CA4327791 rs35730308	1108	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs773651038 CA4327790	1109	L>I		No	ClinGen ExAC gnomAD
rs1014207158 CA162099933	1110	R>*		No	ClinGen TOPMed
rs770289924 CA4327789	1110	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA368040113 rs1293871816	1111	A>T		No	ClinGen TOPMed gnomAD
TCGA novel	1112	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1584829663 CA368040062	1112	H>P		No	ClinGen Ensembl
TCGA novel	1114	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368039960 rs1328523726	1114	G>D		No	ClinGen TOPMed
CA4327788 rs747650743	1114	G>S		No	ClinGen ExAC gnomAD
CA162099927 rs199931681	1115	I>T		No	ClinGen TOPMed gnomAD
rs1347910274 CA368039947	1115	I>V		No	ClinGen gnomAD
rs1389010033 CA368039930	1116	V>M		No	ClinGen TOPMed gnomAD
COSM227035 CA368039818 RCV001029500 rs1584829602	1119	E>K	skin [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs746677023 CA4327785	1120	P>H		No	ClinGen ExAC gnomAD
CA162099921 rs1017877229	1121	I>M		No	ClinGen TOPMed
CA162099923 rs202215242	1121	I>N		No	ClinGen Ensembl
rs779984514 CA4327784	1122	L>V		No	ClinGen ExAC gnomAD
RCV001029501 rs1253462004 CA368039697	1124	D>N		No	ClinGen ClinVar dbSNP gnomAD
CA368039685 rs1253462004	1124	D>Y		No	ClinGen gnomAD
CA4327783 rs758212180	1125	C>G		No	ClinGen ExAC gnomAD
RCV001029502 rs758212180 CA368039656	1125	C>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1584829568 CA368039606 RCV001029503	1126	S>I		No	ClinGen ClinVar Ensembl dbSNP
CA162099917 rs199894992	1127	I>V		No	ClinGen gnomAD
CA4327782 rs763091787	1129	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4327781 rs765229328	1130	N>I		No	ClinGen ExAC gnomAD
CA368039416 rs765229328	1130	N>S		No	ClinGen ExAC gnomAD
rs1000260563 CA162099913	1132	A>V		No	ClinGen Ensembl
rs1314060722 CA368039302	1133	Y>C		No	ClinGen gnomAD
rs767536622 CA4327778	1134	G>*		No	ClinGen ExAC gnomAD
CA368039285 rs767536622	1134	G>R		No	ClinGen ExAC gnomAD
rs774493186 CA4327776	1135	D>E		No	ClinGen ExAC gnomAD
CA4327775 rs766599262	1136	N>S		No	ClinGen ExAC gnomAD
rs41309228 CA162099905	1137	S>I		No	ClinGen Ensembl
rs200196668 CA4327772	1138	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA4327773 rs773597757	1138	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1140	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs2229107 VAR_022281 CA4327770	1141	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs768115578 CA4327769	1144	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1045642 RCV000602614	1145	I>=		No	ClinVar dbSNP
CA368038865 rs1045642	1145	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779788253 CA368038858	1146	V>L		No	ClinGen ExAC TOPMed gnomAD
CA4327767 rs779788253	1146	V>M		No	ClinGen ExAC TOPMed gnomAD
CA368038818 rs1482837611	1147	R>K		No	ClinGen gnomAD
rs1272689553 CA368038808	1148	A>T		No	ClinGen gnomAD
CA162099893 rs199605609	1149	A>V		No	ClinGen Ensembl
rs201520086 CA4327766	1152	A>S		No	ClinGen ExAC gnomAD
rs201520086 CA368038694	1152	A>T		No	ClinGen ExAC gnomAD
rs368427451 CA162099889	1154	I>M		No	ClinGen Ensembl
rs1313948400 CA368038608	1155	H>R		No	ClinGen TOPMed
CA4327764 rs778901580	1156	A>G		No	ClinGen ExAC gnomAD
CA4327765 rs745613481	1156	A>P		No	ClinGen ExAC gnomAD
CA4327763 rs200703943	1158	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1410153460 CA368038486	1159	E>D		No	ClinGen TOPMed gnomAD
rs781320202 CA4327761	1159	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4327759 rs751662492	1162	P>T		No	ClinGen ExAC gnomAD
CA368038399 rs766547835	1163	N>K		No	ClinGen ExAC TOPMed gnomAD
rs59241388 CA4327741	1168	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780152885 CA4327740	1169	V>I		No	ClinGen ExAC gnomAD
rs1473237773 CA368037737	1173	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA368037703 RCV001028682 COSM747743 rs1584826485	1175	Q>*	lung [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs1466258029 CA368037663	1177	S>C		No	ClinGen gnomAD
TCGA novel	1177	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368037665 rs1466258029	1177	S>Y		No	ClinGen gnomAD
CA368037641 rs1415144759	1179	G>C		No	ClinGen TOPMed
TCGA novel	1179	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA575858997 rs1295088187	1180	Q>R		No	ClinGen gnomAD
CA368037597 rs1584826433 RCV001028683	1181	K>*		No	ClinGen ClinVar Ensembl dbSNP
rs1584826422 CA368037586 RCV001028684	1181	K>N		No	ClinGen ClinVar Ensembl dbSNP
rs1421351917 RCV001028685 CA368037578	1182	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA4327735 rs754264039	1183	R>H		No	ClinGen ExAC gnomAD
rs199676098 CA4327736	1183	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1281843123 CA368037549	1184	I>V		No	ClinGen TOPMed gnomAD
RCV001028687 rs764463583 CA4327734	1185	A>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA368037521 rs1400860335	1186	I>V		No	ClinGen TOPMed
CA368037493 rs139820108	1188	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA162099158 rs139820108	1188	R>G		No	ClinGen ESP TOPMed
CA4327733 rs201530445	1188	R>H		No	ClinGen ExAC TOPMed gnomAD
COSM2156810 rs1378191421 CA368037474	1189	A>V	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA368037466 RCV001028688 rs1584826349	1191	V>I		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	1193	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759250541 CA4327730	1193	Q>R		No	ClinGen ExAC gnomAD
rs1285942204 CA368037432	1194	P>T		No	ClinGen TOPMed
CA162099153 rs769925505	1195	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1366730591 CA368037397	1196	I>V		No	ClinGen gnomAD
CA368037324 COSM1698849 RCV001028689 rs1584826310	1201	E>K	skin [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
CA4327728 rs770620028	1203	T>M		No	ClinGen ExAC TOPMed gnomAD
rs770620028 CA368037294	1203	T>R		No	ClinGen ExAC TOPMed gnomAD
rs202030954 CA162099148	1205	A>T		No	ClinGen gnomAD
CA368037252 rs1490083456	1206	L>R		No	ClinGen Ensembl
TCGA novel	1208	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769592199 CA4327725	1209	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769592199 CA368037214	1209	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA368037191 rs1390471469	1210	S>C		No	ClinGen TOPMed gnomAD
rs1390471469 CA368037192	1210	S>G		No	ClinGen TOPMed gnomAD
CA4327724 rs201111035	1211	E>A		No	ClinGen ExAC gnomAD
rs1451623254 CA368037121 CA368037126	1212	K>N		No	ClinGen gnomAD
CA162099145 rs1029583513	1212	K>T		No	ClinGen TOPMed
TCGA novel	1213	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA368035745 rs1584824159 RCV001029506	1214	V>G		No	ClinGen ClinVar Ensembl dbSNP
rs1584824153 CA368035738 RCV001029507	1215	Q>K		No	ClinGen ClinVar Ensembl dbSNP
CA162098773 rs140995435	1216	E>K		No	ClinGen gnomAD
COSM1673258 rs1584824131 RCV001029508 CA368035700	1217	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ClinVar Ensembl dbSNP
rs768613690 CA4327705	1221	A>P		No	ClinGen ExAC gnomAD
rs1188387982 CA368035617	1222	R>G		No	ClinGen gnomAD
CA368035613 rs1344972013	1222	R>T		No	ClinGen gnomAD
TCGA novel	1223	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA162098764 rs41309231	1223	E>D		No	ClinGen TOPMed
TCGA novel	1223	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281746264 COSM238635 CA368035566	1225	R>C	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs779103120 CA4327702 COSM1452575	1225	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1338160384 CA368035560	1226	T>A		No	ClinGen TOPMed
RCV001029509 rs1584824060 CA368035541	1227	C>S		No	ClinGen ClinVar Ensembl dbSNP
rs1408243208 CA368035491	1228	I>N		No	ClinGen gnomAD
rs199912437 CA162098758	1228	I>V		No	ClinGen Ensembl
CA4327700 rs757394498 RCV001029510	1230	I>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001029511 CA368035441 rs1584824009	1231	A>T		No	ClinGen ClinVar Ensembl dbSNP
CA368035406 rs1584824001	1232	H>P		No	ClinGen Ensembl
CA4327698 rs563375387	1233	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4327696 rs201578293 COSM3032623	1233	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4327697 rs201578293	1233	R>L		No	ClinGen ExAC TOPMed gnomAD
rs200637194 CA162098747	1236	T>I		No	ClinGen gnomAD
CA368035341 rs1584823965	1237	I>T		No	ClinGen Ensembl
CA4327695 rs139750664	1237	I>V		No	ClinGen ESP ExAC gnomAD
rs755563103 CA162098744	1238	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4327692 rs201089646	1240	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs762504646 CA4327691	1241	D>E		No	ClinGen ExAC gnomAD
CA162098740 rs142093374	1241	D>N		No	ClinGen ESP
rs1210266411 CA368035261	1242	L>F		No	ClinGen gnomAD
rs1441356731 CA368035242	1243	I>R		No	ClinGen gnomAD
rs772971590 CA4327690	1244	V>A		No	ClinGen ExAC TOPMed gnomAD
CA368035087 rs1230774968	1248	N>K		No	ClinGen TOPMed gnomAD
CA162098737 rs201609930 RCV001029512	1249	G>D		No	ClinGen ClinVar Ensembl dbSNP
rs1470598507 CA368035083	1249	G>S		No	ClinGen TOPMed
rs1373455786 CA368035046	1250	R>I		No	ClinGen gnomAD
RCV001029513 rs1373455786 CA368035047	1250	R>K		No	ClinGen ClinVar dbSNP gnomAD
VAR_018353 COSM197657 RCV000959670 CA4327687 rs28364274	1251	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA368034983 rs1444127505	1252	K>E		No	ClinGen gnomAD
CA4327686 rs768562415	1252	K>R		No	ClinGen ExAC TOPMed gnomAD
CA368034928 rs1584823866 RCV001029514	1253	E>G		No	ClinGen ClinVar Ensembl dbSNP
rs1303671591 CA368034932	1253	E>Q		No	ClinGen gnomAD
CA368034913 rs1447340915	1254	H>N		No	ClinGen gnomAD
CA368034881 rs1404008939	1254	H>Q		No	ClinGen TOPMed gnomAD
rs1013586488 CA162098731	1255	G>D		No	ClinGen TOPMed
rs35721439 CA4327685	1256	T>K		No	ClinGen ExAC TOPMed gnomAD
rs35721439 CA368034832	1256	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1257	H>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1044890354 CA162098727	1257	H>P		No	ClinGen gnomAD
CA368034806 rs1044890354	1257	H>R		No	ClinGen gnomAD
CA4327683 rs771100707	1257	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	1263	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1038514609 COSM1698848 CA162098725	1265	G>S	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
CA368034566 rs1283093586 COSM1181285	1266	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
RCV001029517 rs1457191518 CA368034548	1267	Y>*		No	ClinGen ClinVar dbSNP gnomAD
rs1415447553 COSM1673257 CA368034550	1267	Y>C	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA368034552 RCV001029515 rs1584823811	1267	Y>D		No	ClinGen ClinVar Ensembl dbSNP
rs1415447553 CA368034551 RCV001029516	1267	Y>S		No	ClinGen ClinVar dbSNP gnomAD
TCGA novel	1269	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1269	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200264629 CA162098723	1270	M>T		No	ClinGen Ensembl
rs1584823781 CA368034440	1274	Q>K		No	ClinGen Ensembl
CA162098721 rs867908714	1274	Q>L		No	ClinGen Ensembl
rs1321813708 CA368034418	1275	A>S		No	ClinGen TOPMed
rs777987186 CA4327681	1277	T>A		No	ClinGen ExAC gnomAD
TCGA novel	1277	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs137996914 CA4327680	1279	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4327678 rs200263370	1279	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200263370 CA4327679	1279	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1214032998 CA368034268	1280	Q>H		No	ClinGen gnomAD
CA4327677 rs202194143	1280	Q>P		No	ClinGen 1000Genomes ExAC gnomAD

1 associated diseases with P08183

[MIM: 612244]: Inflammatory bowel disease 13 (IBD13)

A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

A chronic, relapsing inflammation of the gastrointestinal tract with a complex etiology. It is subdivided into Crohn disease and ulcerative colitis phenotypes. Crohn disease may affect any part of the gastrointestinal tract from the mouth to the anus, but most frequently it involves the terminal ileum and colon. Bowel inflammation is transmural and discontinuous; it may contain granulomas or be associated with intestinal or perianal fistulas. In contrast, in ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers; fistulas and granulomas are not observed. Both diseases include extraintestinal inflammation of the skin, eyes, or joints. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

8 regional properties for P08183

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	392 - 628	IPR003439-1
domain	ABC transporter-like, ATP-binding domain	1035 - 1273	IPR003439-2
domain	AAA+ ATPase domain	419 - 611	IPR003593-1
domain	AAA+ ATPase domain	1062 - 1250	IPR003593-2
domain	ABC transporter type 1, transmembrane domain	52 - 357	IPR011527-1
domain	ABC transporter type 1, transmembrane domain	712 - 1000	IPR011527-2
conserved_site	ABC transporter-like, conserved site	531 - 545	IPR017871-1
conserved_site	ABC transporter-like, conserved site	1176 - 1190	IPR017871-2

Functions

		Description
EC Number	7.6.2.1	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Apical cell membrane Cytoplasm	ABCB1 localization is influenced by C1orf115 expression levels (plasma membrane versus cytoplasm) Localized to the apical membrane of enterocytes (PubMed:28408210)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
cell surface	The external part of the cell wall and/or plasma membrane.
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.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

12 GO annotations of molecular function

Name	Definition
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 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.
carboxylic acid transmembrane transporter activity	Enables the transfer of carboxylic acids from one side of a membrane to the other. Carboxylic acids are organic acids containing one or more carboxyl (COOH) groups or anions (COO-).
ceramide floppase activity	Catalysis of the movement of ceramide from the cytosolic to the exoplasmic leaftlet of a membrane, using energy from the hydrolysis of ATP.
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.
floppase activity	Catalysis of the movement of a lipid from the cytosolic to the exoplasmic leaftlet of a membrane, using energy from the hydrolysis of ATP.
phosphatidylcholine floppase activity	Catalysis of the movement of phosphatidylcholine from the cytosolic to the exoplasmic leaftlet of a membrane, using energy from the hydrolysis of ATP.
phosphatidylethanolamine flippase activity	Catalysis of the movement of phosphatidylethanolamine from the exoplasmic to the cytosolic leaftlet of a membrane, using energy from the hydrolysis of ATP.
transmembrane transporter activity	Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
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.

17 GO annotations of biological process

Name	Definition
carboxylic acid transmembrane transport	The process in which carboxylic acid is transported across a membrane.
ceramide translocation	The movement of a ceramide molecule from one leaflet of a membrane bilayer to the opposite leaflet.
export across plasma membrane	The directed movement of some substance from inside of a cell, across the plasma membrane and into the extracellular region.
G2/M transition of mitotic cell cycle	The mitotic cell cycle transition by which a cell in G2 commits to M phase. The process begins when the kinase activity of M cyclin/CDK complex reaches a threshold high enough for the cell cycle to proceed. This is accomplished by activating a positive feedback loop that results in the accumulation of unphosphorylated and active M cyclin/CDK complex.
phospholipid translocation	The movement of a phospholipid molecule from one leaflet of a membrane bilayer to the opposite leaflet.
positive regulation of anion channel activity	Any process that activates or increases the frequency, rate or extent of anion channel activity.
regulation of chloride transport	Any process that modulates the frequency, rate or extent of chloride transport.
regulation of response to osmotic stress	Any process that modulates the rate or extent of the response to osmotic stress.
response to xenobiotic stimulus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a xenobiotic, 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.
stem cell proliferation	The multiplication or reproduction of stem cells, resulting in the expansion of a stem cell population. A stem cell is a cell that retains the ability to divide and proliferate throughout life to provide progenitor cells that can differentiate into specialized cells.
terpenoid transport	The directed movement of terpenoids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Terpenoids are a class of compounds characterized by an isoprenoid chemical structure and include derivatives with various functional groups.
transepithelial transport	The directed movement of a substance from one side of an epithelium to the other.
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.
xenobiotic detoxification by transmembrane export across the plasma membrane	A process that reduces or removes the toxicity of a xenobiotic by exporting it outside the cell.
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 transport across blood-brain barrier	The directed movement of a xenobiotic through the blood-brain barrier.

10 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9NP58	ABCB6	ATP-binding cassette sub-family B member 6	Homo sapiens (Human)	PR
O95342	ABCB11	Bile salt export pump	Homo sapiens (Human)	PR
P21440	Abcb4	Phosphatidylcholine translocator ABCB4	Mus musculus (Mouse)	PR
Q9QY30	Abcb11	Bile salt export pump	Mus musculus (Mouse)	PR
P06795	Abcb1b	ATP-dependent translocase ABCB1	Mus musculus (Mouse)	PR
P21447	Abcb1a	ATP-dependent translocase ABCB1	Mus musculus (Mouse)	PR
O70127	Abcb11	Bile salt export pump	Rattus norvegicus (Rat)	PR
Q8H1R4	ABCI10	ABC transporter I family member 10	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9ZR72	ABCB1	ABC transporter B family member 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LJX0	ABCB19	ABC transporter B family member 19	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MDLEGDRNGG	AKKKNFFKLN	NKSEKDKKEK	KPTVSVFSMF	RYSNWLDKLY	MVVGTLAAII
70	80	90	100	110	120
HGAGLPLMML	VFGEMTDIFA	NAGNLEDLMS	NITNRSDIND	TGFFMNLEED	MTRYAYYYSG
130	140	150	160	170	180
IGAGVLVAAY	IQVSFWCLAA	GRQIHKIRKQ	FFHAIMRQEI	GWFDVHDVGE	LNTRLTDDVS
190	200	210	220	230	240
KINEGIGDKI	GMFFQSMATF	FTGFIVGFTR	GWKLTLVILA	ISPVLGLSAA	VWAKILSSFT
250	260	270	280	290	300
DKELLAYAKA	GAVAEEVLAA	IRTVIAFGGQ	KKELERYNKN	LEEAKRIGIK	KAITANISIG
310	320	330	340	350	360
AAFLLIYASY	ALAFWYGTTL	VLSGEYSIGQ	VLTVFFSVLI	GAFSVGQASP	SIEAFANARG
370	380	390	400	410	420
AAYEIFKIID	NKPSIDSYSK	SGHKPDNIKG	NLEFRNVHFS	YPSRKEVKIL	KGLNLKVQSG
430	440	450	460	470	480
QTVALVGNSG	CGKSTTVQLM	QRLYDPTEGM	VSVDGQDIRT	INVRFLREII	GVVSQEPVLF
490	500	510	520	530	540
ATTIAENIRY	GRENVTMDEI	EKAVKEANAY	DFIMKLPHKF	DTLVGERGAQ	LSGGQKQRIA
550	560	570	580	590	600
IARALVRNPK	ILLLDEATSA	LDTESEAVVQ	VALDKARKGR	TTIVIAHRLS	TVRNADVIAG
610	620	630	640	650	660
FDDGVIVEKG	NHDELMKEKG	IYFKLVTMQT	AGNEVELENA	ADESKSEIDA	LEMSSNDSRS
670	680	690	700	710	720
SLIRKRSTRR	SVRGSQAQDR	KLSTKEALDE	SIPPVSFWRI	MKLNLTEWPY	FVVGVFCAII
730	740	750	760	770	780
NGGLQPAFAI	IFSKIIGVFT	RIDDPETKRQ	NSNLFSLLFL	ALGIISFITF	FLQGFTFGKA
790	800	810	820	830	840
GEILTKRLRY	MVFRSMLRQD	VSWFDDPKNT	TGALTTRLAN	DAAQVKGAIG	SRLAVITQNI
850	860	870	880	890	900
ANLGTGIIIS	FIYGWQLTLL	LLAIVPIIAI	AGVVEMKMLS	GQALKDKKEL	EGSGKIATEA
910	920	930	940	950	960
IENFRTVVSL	TQEQKFEHMY	AQSLQVPYRN	SLRKAHIFGI	TFSFTQAMMY	FSYAGCFRFG
970	980	990	1000	1010	1020
AYLVAHKLMS	FEDVLLVFSA	VVFGAMAVGQ	VSSFAPDYAK	AKISAAHIIM	IIEKTPLIDS
1030	1040	1050	1060	1070	1080
YSTEGLMPNT	LEGNVTFGEV	VFNYPTRPDI	PVLQGLSLEV	KKGQTLALVG	SSGCGKSTVV
1090	1100	1110	1120	1130	1140
QLLERFYDPL	AGKVLLDGKE	IKRLNVQWLR	AHLGIVSQEP	ILFDCSIAEN	IAYGDNSRVV
1150	1160	1170	1180	1190	1200
SQEEIVRAAK	EANIHAFIES	LPNKYSTKVG	DKGTQLSGGQ	KQRIAIARAL	VRQPHILLLD
1210	1220	1230	1240	1250	1260
EATSALDTES	EKVVQEALDK	AREGRTCIVI	AHRLSTIQNA	DLIVVFQNGR	VKEHGTHQQL
1270
LAQKGIYFSM	VSVQAGTKRQ