AiPD: Autoinhibited Protein Database

O95342

Gene name	ABCB11
Protein name	Bile salt export pump
Names	ATP-binding cassette sub-family B member 11
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8647
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-71 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-71 (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

7 structures for O95342

Entry ID	Method	Resolution	Chain	Position	Source
6LR0	EM	350 A	U	1-1321	PDB
7DV5	EM	370 A	U	46-1315	PDB
7E1A	EM	366 A	U	1-1321	PDB
8PM6	EM	322 A	A	1-1321	PDB
8PMD	EM	295 A	A	1-1321	PDB
8PMJ	EM	281 A	A	1-1321	PDB
AF-O95342-F1	Predicted				AlphaFoldDB

1193 variants for O95342

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs951486880 CA59876043 RCV001130409	40	G>D	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001130408 rs183406496 CA245228 RCV000178197	43	V>I	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1951947 VAR_055472 RCV000726831 RCV001130407 RCV000429228 rs11568361	56	S>L	Progressive familial intrahepatic cholestasis type 2 does not affect taurocholate transport activity; does not affect cell surface protein expression [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001130406 rs1695254190	70	F>L	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV002487232 rs371965391 RCV000363165 CA1951939	79	V>M	Benign recurrent intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1258387740 CA349105194 RCV000986928	86	M>K	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001336078 rs1558927163 RCV000985104 RCV000729966	127	T>missing	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_083783	129	C>Y	PFIC2; loss of cell membrane localization; significantly reduces taurocholate transport activity [UniProt]	Yes	UniProt
RCV000734401 RCV002290001 rs776561679 CA1951888	151	A>T	Variant assessed as Somatic; 0.0 impact. Benign recurrent intrahepatic cholestasis type 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs200870815 RCV002477682 RCV000728289 CA1951858	169	R>H	Benign recurrent intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_030386 CA59898061 rs72551307	186	E>G	BRIC2 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs762475940 RCV001135474	195	V>L	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
CA59897099 VAR_030388 rs72551306	238	G>V	PFIC2 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
CA10611263 RCV000394104 rs886055069	267	T>M	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1951783 RCV001133958 VAR_035349 rs200739891 RCV000730938	284	V>A	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_013332	284	V>L	PFIC2 [UniProt]	Yes	UniProt
VAR_010271 rs11568372 RCV000403023 RCV000258070 CA253878 RCV000006968 RCV000725832 RCV001003930	297	E>G	Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 2 Cholestasis, intrahepatic, of pregnancy, 3 Progressive familial intrahepatic cholestasis type 2 PFIC2 and BRIC2; reduces transport capacity for taurocholate; decreases protein expression; affects maturation of protein in the reticulum endoplasmic; does not affect apical membrane localization; does not affect cell surface expression of the mature form; does not affect transport of taurocholate and glycocholate; enhances ubiquitination susceptibility; reduces transport activity of taurocholate in a low cholesterol environment; increases transport activity of taurocholate in a high cholesterol environment; does not affect protein expression; does not affect cell membrane localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000730334 VAR_030389 RCV001133957 rs2287617 CA1951774	299	R>K	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001279418 rs1694321895	306	K>R	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000985103 rs770497192 RCV000436930 CA59893081 CA16603975	312	Q>H	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA349124281 RCV000714681 rs1558909465	333	I>N	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA59893054 rs72551305 VAR_030390	336	C>S	PFIC2 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
VAR_073967	337	Y>H	PFIC2; unknown pathological significance [UniProt]	Yes	UniProt
CA1951730 rs750904445 RCV001279417	344	G>S	Variant assessed as Somatic; 0.0 impact. Progressive familial intrahepatic cholestasis type 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs767525336 CA1951723 RCV002532402 RCV000591843	355	T>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000991367 rs1574462504	368	V>*	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000728774 RCV000923510 rs572222881 RCV000279768 CA1951684	375	N>S	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001250136 CA1951680 rs764125510	386	G>*	Familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001131007 VAR_043074 RCV000732397 CA1951644 rs371656014	415	R>Q	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV002480913 RCV001279415 CA1951637 rs371091982	424	N>T	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs121908935 RCV001851714 CA253880 VAR_030391 RCV000006974	432	R>T	Benign recurrent intrahepatic cholestasis type 2 BRIC2; reduced transport capacity for taurocholate; reduces transport activity of taurocholate in a low cholesterol environment; increases transport activity of taurocholate in a high cholesterol environment [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001511202 RCV000273829 rs2287622 VAR_013333 RCV001542896 RCV000174528 CA201032	444	V>A	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 more frequent in patients with drug-induced cholestasis than healthy controls; associated with lower hepatic expression; does not affect transport capacity for taurocholate; increases transport activity of taurocholate in a low cholesterol environment; increases transport activity of taurocholate in a high cholesterol environment; does not affect cell surface protein expression; does not affect protein expression [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758400152 RCV002519351 RCV000390594 CA1951601	454	V>L	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA349117225 rs1274558905 VAR_013334	461	K>E	PFIC2 [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
CA1951595 rs200148505 RCV000597511 RCV002483632	466	Q>K	Benign recurrent intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000594300 CA1951591 RCV001829648 rs774824767	470	R>*	Variant assessed as Somatic; 0.0 impact. Progressive familial intrahepatic cholestasis type 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1463057954 RCV001229767 RCV001836183 CA349117050	470	R>Q	Variant assessed as Somatic; impact. Progressive familial intrahepatic cholestasis type 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA349117008 rs1558898789 RCV000761413	472	Y>*	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1951590 rs369860506 VAR_073968	472	Y>C	PFIC2 [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs72549402 RCV002494878 CA1951562 VAR_013335 RCV000352712 RCV001198579 RCV000779284	482	D>G	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 PFIC2; decreases protein expression; affects maturation of protein in the reticulum endoplasmic; decreases apical membrane localization; affects cell surface expression; does not affect transport of taurocholate and glycocholate; enhances ubiquitination susceptibility [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000761414 RCV001003929 RCV000763465 rs188824058 RCV000396656 CA1951559 RCV001805001	487	R>H	Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 2 Cholestasis, intrahepatic, of pregnancy, 3 Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs553076953 CA1951557 RCV001844267 RCV001130296 RCV002482255	490	N>D	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1951553 rs752043324 RCV002298908 RCV001223263 RCV001828781	498	I>T	Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1951543 RCV001130294 rs770750597	518	Y>C	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs764296800 RCV001003558 CA349115272	541	I>M	Cholestasis, intrahepatic, of pregnancy, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
RCV000317163 RCV001130292 rs111482608 CA1951520 RCV000904492	546	Q>K	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs886055066 RCV002523087 RCV000332219 CA10612844	567	V>I	Progressive familial intrahepatic cholestasis [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001828248 VAR_030392 CA10605968 rs886043807 RCV000275712	570	A>T	Progressive familial intrahepatic cholestasis type 2 BRIC2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
CA253876 RCV001851713 RCV000006967 rs72549401	575	R>*	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000729841 rs917981474 RCV002499353 RCV001805834 CA59880134	588	A>V	Progressive familial intrahepatic cholestasis Benign recurrent intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000369216 RCV001003557 rs886044710 CA10607090	590	D>G	Cholestasis, intrahepatic, of pregnancy, 3 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs11568367 RCV000174886 RCV001515254 RCV000986927 CA201206 VAR_043075	591	N>S	Progressive familial intrahepatic cholestasis type 2 a patient with intrahepatic cholestasis of pregnancy; impairs taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression; does not affect cell membrane localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_083785 RCV001003556 RCV002485924 CA1951469 rs11568370 RCV000732880	592	E>Q	Benign recurrent intrahepatic cholestasis type 2 Cholestasis, intrahepatic, of pregnancy, 3 does not affect taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA1951425 RCV001274331 RCV000982065 rs756725213	646	R>K	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs11568364 RCV000272956 CA1951390 VAR_030393 RCV000251833 RCV001515639	677	M>V	Progressive familial intrahepatic cholestasis type 2 does not affect taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200912109 CA1951389 RCV000593560 RCV001135336	679	A>V	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA349109590 rs748837264 RCV002535170 RCV000730790	693	A>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs141862495 RCV000324012 RCV000303326 RCV001559194 CA1951368	696	R>Q	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_073969 rs376216286 CA1951369	696	R>W	PFIC2; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs539087982 CA1951366 RCV002487465 RCV000396525	698	R>C	Variant assessed as Somatic; 0.0 impact. Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001003553 RCV001133841 VAR_035352 CA201386 RCV000175307 RCV000425907 rs138642043 RCV002478567	698	R>H	Benign recurrent intrahepatic cholestasis type 2 Cholestasis, intrahepatic, of pregnancy, 3 Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002265870 rs867525294 RCV000730913 RCV001251098 CA59876857	699	S>P	Progressive familial intrahepatic cholestasis Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000318703 RCV001413506 RCV001133840 rs150572999 CA1951365	701	S>P	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000319364 CA1951362 RCV000765532 rs201800225 RCV001196787	709	E>K	Benign recurrent intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001003552 RCV000731136 rs201240844 RCV001779070 CA1951330	731	P>S	Cholestasis, intrahepatic, of pregnancy, 3 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1951326 RCV001133838 rs369865521 RCV002070566	734	E>D	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001133837 CA1951322 rs372228971	743	R>T	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000390625 rs763782349 RCV001833399 CA1951315	766	G>R	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000728860 RCV000477943 CA16616898 rs1060499579 RCV001835812	794	Q>*	Benign recurrent intrahepatic cholestasis type 2 Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001130868 rs1692231118	805	M>V	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
rs756323541 RCV001329748	830	R>missing	Benign recurrent intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001329749 RCV000597325 RCV001261597 RCV002509461 CA1951262 rs772294884	832	R>C	Progressive familial intrahepatic cholestasis Variant assessed as Somatic; 0.0 impact. Progressive familial intrahepatic cholestasis type 3 Progressive familial intrahepatic cholestasis type 2 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA1951259 RCV000394888 RCV001452902 rs372757355	839	M>V	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000337554 rs886055064 CA10612580	865	A>T	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
VAR_035353 RCV001130866 RCV000224014 CA1951246 rs118109635 RCV000267628	865	A>V	Progressive familial intrahepatic cholestasis type 2 might be associated with increased risk of intrahepatic stones; decreases protein expression; deacreases localization to the cell membrane; decreases the trafficking to the plasma membrane [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002283494 CA1951218 rs745557569 RCV000597477	877	G>R	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000591659 rs199514789 RCV001130865 CA1951196	923	T>I	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777469571 VAR_030394 CA1951197	923	T>P	BRIC2 [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
VAR_030395 CA59876005 rs72549400	926	A>P	BRIC2 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV000591821 rs200488448 RCV002476297 CA1951194 RCV003117361	928	R>Q	Benign recurrent intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000732890 rs752919965 RCV000006973	930	K>missing	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
VAR_073970	931	Q>P	PFIC2; unknown pathological significance [UniProt]	Yes	UniProt
RCV000282440 rs755362375 CA1951192	934	E>K	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001475597 CA1951166 rs200857579 RCV000386223	945	S>N	Progressive familial intrahepatic cholestasis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000734399 CA349124165 RCV002477730 rs1559183717 RCV003155301	948	R>C	Progressive familial intrahepatic cholestasis Variant assessed as Somatic; impact. Benign recurrent intrahepatic cholestasis type 2 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs886055063 CA10612573 RCV000350407	969	K>E	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1951149 RCV000596459 rs199940188 RCV000295539	976	Q>R	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000730828 RCV002499359 rs72549399 CA1951147 VAR_013336	982	G>R	Variant assessed as Somatic; 0.0 impact. Benign recurrent intrahepatic cholestasis type 2 PFIC2; impairs taurocholate transport activity; significantly reduces protein expression; decreases cell surface protein expression; loss of ell membrane localization [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_013337	1004	G>D	PFIC2 [UniProt]	Yes	UniProt
rs72549398 VAR_030396 CA1951095 RCV001090457 RCV000414921	1050	R>C	Intrahepatic cholestasis BRIC2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA253881 RCV000006975 rs72549397 RCV000729078	1057	R>*	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA1951091 RCV001274329 rs200174512 RCV000900514	1057	R>Q	Variant assessed as Somatic; 0.0 impact. Progressive familial intrahepatic cholestasis type 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000269845 rs886055062 CA10612836	1064	Y>H	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA349121408 rs1553545883 RCV000626081	1109	L>P	Benign recurrent intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000264980 RCV000332967 RCV002519238 rs754048936 CA1951046	1117	C>Y	Progressive familial intrahepatic cholestasis type 2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
rs1574398620 CA349121183 RCV000790421	1118	G>S	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs764581483 RCV000792487 CA1951042 RCV001825543	1128	R>C	Variant assessed as Somatic; 0.0 impact. Progressive familial intrahepatic cholestasis type 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001250137 rs764581483 CA1951043	1128	R>G	Familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs756220860 CA1951041 VAR_030397 RCV000392290	1128	R>H	BRIC2 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_073971	1131	D>V	PFIC2 [UniProt]	Yes	UniProt
rs773929580 CA1951011 RCV001135194	1152	L>F	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000333806 rs72549395 VAR_013338 RCV000984920 CA1951010	1153	R>C	Variant assessed as Somatic; 4.643e-05 impact. Progressive familial intrahepatic cholestasis type 2 PFIC2; impairs taurocholate transport activity; significantly reduces protein expression; decreases cell surface protein expression; loss of ell membrane localization [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001133702 rs1691360150	1167	A>S	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
CA349119701 RCV001133701 rs1163343377	1167	A>V	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1951001 RCV001133700 RCV000400668 rs183621659	1171	M>T	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs200709879 CA1950997 RCV000593746 RCV000923870 RCV001133699	1175	K>T	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs887349193 CA59870067 RCV001133698	1182	E>D	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1691356249 RCV001278640	1185	M>V	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000176656 RCV001133697 VAR_030398 CA242689 RCV000254105 rs1521808	1186	E>K	Progressive familial intrahepatic cholestasis type 2 impairs taurocholate transport activity; does not affect protein expression; decreases cell surface protein expression; reduces plasma membrane localization [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_073972	1198	H>R	PFIC2; unknown pathological significance [UniProt]	Yes	UniProt
RCV001828705 rs1691232631 RCV001214261	1210	T>P	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001828168 RCV000255690 rs769192036 CA1950968	1216	G>A	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs199649780 CA1950966 RCV001003551	1223	E>D	Cholestasis, intrahepatic, of pregnancy, 3 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001003550 rs778992761 CA1950964	1226	R>L	Cholestasis, intrahepatic, of pregnancy, 3 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000280694 CA1950957 rs758069019 RCV001833374	1231	R>Q	Variant assessed as Somatic; 0.0 impact. Progressive familial intrahepatic cholestasis type 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV002568703 rs766285158 RCV001250138 CA1950958	1231	R>W	Familial intrahepatic cholestasis type 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs387907317 RCV000032591 RCV002512861	1257	V>missing	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
CA59867827 VAR_013339 rs72549394	1268	R>Q	PFIC2 [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
RCV002480036 CA1950913 RCV000389994 rs372886308	1283	A>V	Benign recurrent intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001278639 rs1691168576	1316	T>A	Progressive familial intrahepatic cholestasis type 2 [ClinVar]	Yes	ClinVar dbSNP
CA349107796 rs1168198973	2	S>F		No	ClinGen gnomAD
CA349107773 rs1475944635	3	D>V		No	ClinGen gnomAD
RCV000329436 CA10606196 rs886043986	8	R>*	Variant assessed as Somatic; 9.287e-05 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
CA1952044 rs368985605 RCV000727991	8	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1470241038 CA349107643	9	S>T		No	ClinGen gnomAD
CA349107565 rs1198057132	12	K>E		No	ClinGen gnomAD
CA349107548 rs769329903	12	K>N		No	ClinGen ExAC gnomAD
CA1952041 rs201203913	13	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349107537 rs201203913	13	F>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1952040 rs780543172	15	E>Q		No	ClinGen ExAC gnomAD
rs1428583146 CA349107481	16	E>K		No	ClinGen TOPMed
rs1301004247 CA349107435	17	N>I		No	ClinGen gnomAD
CA1952038 rs747471233	18	D>H		No	ClinGen ExAC gnomAD
CA349107402 rs1371599889	19	G>D		No	ClinGen gnomAD
CA349107409 rs1382897404	19	G>R		No	ClinGen TOPMed
CA349107356 rs1312537926	21	E>D		No	ClinGen TOPMed
CA59878037 rs377170187	21	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1952037 rs377170187	21	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	22	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349107348 rs1558930398	22	S>P		No	ClinGen Ensembl
CA59878035 rs758703691	23	D>H		No	ClinGen ExAC gnomAD
CA1952036 rs758703691	23	D>N		No	ClinGen ExAC gnomAD
CA1952035 rs750758449	24	K>E		No	ClinGen ExAC TOPMed gnomAD
CA349107256 rs372790699	26	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000591684 CA1952034 rs372790699	26	Y>N		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs748922246 RCV000592594	29	D>missing		No	ClinVar dbSNP
CA1951998 rs776204688	29	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1245634799 CA349106989	29	D>Y		No	ClinGen TOPMed
rs1558929581 CA349106936	31	K>T		No	ClinGen Ensembl
rs1306338605 CA349106441	33	R>S		No	ClinGen gnomAD
rs981877922 CA59876048	40	G>C		No	ClinGen TOPMed
CA349106367 rs981877922	40	G>S		No	ClinGen TOPMed
rs951486880 CA349106355	40	G>V		No	ClinGen TOPMed gnomAD
RCV000730603 CA59876013 rs183406496	43	V>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1951976 rs775156203	44	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA349106247 rs766888895	45	V>F		No	ClinGen ExAC TOPMed gnomAD
CA1951975 rs766888895	45	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1417934005 CA349106220	46	G>D		No	ClinGen gnomAD
TCGA novel	47	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349106125 RCV000595554 rs759100946	49	Q>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1304630863 CA349106138	49	Q>P		No	ClinGen TOPMed
CA349106112 rs771468316	50	L>*		No	ClinGen ExAC TOPMed gnomAD
CA1951971 rs771468316	50	L>S		No	ClinGen ExAC TOPMed gnomAD
rs773884264 RCV000731946 CA1951951	52	R>Q		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000729750 rs763526610 CA1951952	52	R>W		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA349105892 rs1382668146	54	S>F		No	ClinGen gnomAD
CA349105882 rs1447134419	55	S>*		No	ClinGen gnomAD
TCGA novel	55	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000728348 CA349105872 rs11568361	56	S>*		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs374370625 CA1951948	56	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA349105862 rs1162280787	57	T>A		No	ClinGen TOPMed gnomAD
rs1553472841 RCV000595238 CA349105831	58	D>A		No	ClinGen ClinVar Ensembl dbSNP
CA349105801 rs1188648865	59	I>L		No	ClinGen gnomAD
rs1207410969 CA349105662	64	V>A		No	ClinGen gnomAD
CA349105647 rs1272650032	65	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA349105624 rs1293381473	66	S>N		No	ClinGen TOPMed
CA1951943 rs749175257	67	L>*		No	ClinGen ExAC gnomAD
CA59875551 rs776403608	68	C>S		No	ClinGen Ensembl
CA349105479 rs1294189929	71	L>F		No	ClinGen gnomAD
rs1255901958 CA349105396	73	G>V		No	ClinGen Ensembl
rs777701321 CA1951942	74	I>K		No	ClinGen ExAC gnomAD
rs777701321 CA349105380	74	I>T		No	ClinGen ExAC gnomAD
CA349105319 rs1242234374	77	P>S		No	ClinGen TOPMed
CA59875532 rs971497476	78	G>S		No	ClinGen TOPMed
CA10606965 rs886044603 RCV000356383	79	V>E		No	ClinGen ClinVar TOPMed dbSNP
TCGA novel	79	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10604303 RCV000259630 rs886042487	80	L>P		No	ClinGen ClinVar Ensembl dbSNP
rs751215078 CA1951937	81	L>F		No	ClinGen ExAC TOPMed gnomAD
rs751215078 CA1951938	81	L>V		No	ClinGen ExAC TOPMed gnomAD
rs765877056 CA1951936	82	I>T		No	ClinGen ExAC gnomAD
TCGA novel	82	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762571776 RCV000592295 CA1951935	84	G>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA349105197 rs1167028927	86	M>V		No	ClinGen gnomAD
CA1951933 rs765841779	88	D>N		No	ClinGen ExAC gnomAD
TCGA novel	93	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349105090 rs1185733805	93	Y>S		No	ClinGen TOPMed
rs760920706 RCV000591720 CA1951929	94	D>N		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs745952466 CA1951926	95	V>A		No	ClinGen ExAC gnomAD
CA1951927 rs201735739	95	V>I		No	ClinGen ExAC TOPMed gnomAD
CA349104988 rs1558927270	99	E>G		No	ClinGen Ensembl
CA1951923 rs748087267	102	I>F		No	ClinGen ExAC gnomAD
CA349104923 rs1573978431	103	P>L		No	ClinGen Ensembl
rs1573978421 CA349104909	104	G>E		No	ClinGen Ensembl
rs781013887 CA1951922	107	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA349104856 rs1442456392	108	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1336006933 CA349104805	111	T>N		No	ClinGen TOPMed
CA1951920 rs746620432	112	I>V		No	ClinGen ExAC TOPMed gnomAD
CA349104763 rs1394733194	114	W>*		No	ClinGen gnomAD
rs1394733194 CA349104761	114	W>C		No	ClinGen gnomAD
CA1951919 rs779582160	114	W>G		No	ClinGen ExAC gnomAD
CA1951918 rs757911871	120	N>H		No	ClinGen ExAC TOPMed gnomAD
CA1951917 rs367611268	121	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1347160944 CA349104664	121	Q>R		No	ClinGen TOPMed
rs373666118 CA1951916	123	M>L		No	ClinGen ESP ExAC gnomAD
rs757815423 CA349104631	123	M>R		No	ClinGen ExAC TOPMed gnomAD
CA1951915 rs757815423	123	M>T		No	ClinGen ExAC TOPMed gnomAD
rs373666118 CA349104634	123	M>V		No	ClinGen ESP ExAC gnomAD
CA349104615 rs1455594475	124	T>K		No	ClinGen gnomAD
rs1558927172 CA349104606	125	N>Y		No	ClinGen Ensembl
CA349104567 rs1181302767	128	R>C		No	ClinGen gnomAD
RCV000597418 CA1951913 rs181533618	128	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	131	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349132910 rs1312669996	133	N>S		No	ClinGen gnomAD
RCV000729394 CA349132870 rs1288517834	135	E>A		No	ClinGen ClinVar dbSNP gnomAD
CA1951894 RCV000595582 rs752992432	135	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs752992432 CA349132875	135	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
RCV000728475 CA349132826 rs1026511416	137	E>*		No	ClinGen ClinVar TOPMed dbSNP
CA349132822 rs1478818253	137	E>A		No	ClinGen Ensembl
RCV000594421 CA59898882 rs1026511416	137	E>K		No	ClinGen ClinVar TOPMed dbSNP
TCGA novel	139	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759727547 CA1951892	139	I>T		No	ClinGen ExAC TOPMed gnomAD
CA59898880 rs959091007	139	I>V		No	ClinGen TOPMed gnomAD
CA59898879 rs868630930	142	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	143	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349132717 rs377591610	143	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1951891 rs377591610	143	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360234121 CA349132709	144	Y>N		No	ClinGen gnomAD
RCV000593266 rs1334068953 CA349132688	145	Y>C		No	ClinGen ClinVar TOPMed dbSNP
rs1158984965 CA349132680	146	A>P		No	ClinGen gnomAD
CA349132637 rs1410267644	149	A>V		No	ClinGen gnomAD
rs1416007820 CA349132620	151	A>E		No	ClinGen TOPMed gnomAD
rs1416007820 CA349132617	151	A>V		No	ClinGen TOPMed gnomAD
rs768471316 CA1951887	152	V>I		No	ClinGen ExAC gnomAD
CA59898849 rs866922858	153	L>F		No	ClinGen gnomAD
CA1951886 rs760720738	154	I>T		No	ClinGen ExAC gnomAD
rs899162927 CA59898834	158	I>T		No	ClinGen gnomAD
TCGA novel	158	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1951864 rs770476874	160	I>T		No	ClinGen ExAC gnomAD
CA1951865 rs774354809 RCV000729461	160	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs777119489 CA1951863	161	C>*		No	ClinGen ExAC TOPMed gnomAD
rs777119489 CA59898162	161	C>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	163	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	163	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	164	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	164	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1295449927 CA349132040	165	I>T		No	ClinGen gnomAD
rs769380577 CA1951861	166	A>V		No	ClinGen ExAC gnomAD
rs139641883 CA1951859	167	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1553470309 RCV000596689 CA349131969	167	A>V		No	ClinGen ClinVar Ensembl dbSNP
CA10606472 rs886044198 RCV000312586	168	A>D		No	ClinGen ClinVar Ensembl dbSNP
CA349131929 rs1431455458	169	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1694682592 RCV001242197	170	Q>R		No	ClinVar dbSNP
CA349131890 rs1192934631	171	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780523186 CA1951856	172	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA1951857 rs780523186	172	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	172	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349131829 rs1191384857	174	M>L		No	ClinGen gnomAD
CA1951854 rs750696628	174	M>T		No	ClinGen ExAC gnomAD
rs1222724474 CA349131810	175	R>G		No	ClinGen TOPMed
CA59898118 rs912412136	178	Y>C		No	ClinGen TOPMed
CA1951853 rs765189442	180	R>G		No	ClinGen ExAC gnomAD
rs1202797923 CA349131630	181	R>G		No	ClinGen gnomAD
rs1400389889 CA349131556	182	I>T		No	ClinGen gnomAD
RCV000729193 CA59898070 rs367704601	185	M>I		No	ClinGen ClinVar ESP dbSNP
rs759605607 CA1951850	185	M>R		No	ClinGen ExAC gnomAD
rs759605607 CA1951849	185	M>T		No	ClinGen ExAC gnomAD
CA59898058 rs977627728	187	I>V		No	ClinGen TOPMed
rs1195957075 CA349131239	191	D>G		No	ClinGen TOPMed
CA349131252 rs1429566051	191	D>H		No	ClinGen TOPMed
CA1951848 rs774266811	193	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1951846 rs762475940	195	V>M		No	ClinGen ExAC gnomAD
CA59898042 rs958994985	197	E>K		No	ClinGen TOPMed
rs1411429927 RCV000734374 CA349130972	199	N>D		No	ClinGen ClinVar dbSNP gnomAD
CA349130965 rs1411429927	199	N>Y		No	ClinGen gnomAD
CA349130932 rs1474278167	200	T>A		No	ClinGen gnomAD
rs776186221 CA1951842	202	F>L		No	ClinGen ExAC TOPMed gnomAD
CA349130815 rs1383786086	203	S>F		No	ClinGen TOPMed
CA1951826 rs764933943	206	I>M		No	ClinGen ExAC gnomAD
RCV000886389 RCV000349622 CA1951827 rs11568357 VAR_030387	206	I>V	impairs taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression; does not affect cell membrane localization [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA349129399 rs1291610534	207	N>S		No	ClinGen TOPMed gnomAD
rs761507977 CA1951825	210	N>S		No	ClinGen ExAC gnomAD
CA349129240 RCV000733847 rs1258787148	212	A>V		No	ClinGen ClinVar dbSNP gnomAD
rs768192028 CA1951823	213	I>V		No	ClinGen ExAC gnomAD
CA349129194 RCV000997302 rs1573953443	214	A>T		No	ClinGen ClinVar Ensembl dbSNP
CA1951822 rs747473227	214	A>V		No	ClinGen ExAC gnomAD
CA349129126 rs1350485320	216	Q>K		No	ClinGen TOPMed
rs776085479 CA1951821	217	M>R		No	ClinGen ExAC gnomAD
rs776085479 CA349129064	217	M>T		No	ClinGen ExAC gnomAD
CA349129054 rs772266996	218	A>S		No	ClinGen ExAC gnomAD
rs772266996 CA1951820	218	A>T		No	ClinGen ExAC gnomAD
CA1951819 rs746248437	219	L>V		No	ClinGen ExAC gnomAD
rs1292921760 CA349128979	222	Q>*		No	ClinGen gnomAD
RCV000388879 CA1951818 rs199841445	223	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA1951817 RCV000728948 rs773088249	223	R>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs773088249 CA349128888	223	R>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	224	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349128873 rs1313329342	224	M>L		No	ClinGen gnomAD
CA349128817 rs1553470064 RCV000597903	225	T>N		No	ClinGen ClinVar Ensembl dbSNP
CA501084 rs1382100120	226	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA349128583 rs1573953327	231	F>I		No	ClinGen Ensembl
CA1951814 RCV000729352 rs756287199	231	F>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000729594 CA1951811 rs758339239	233	L>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs750215830 CA1951810	234	G>E		No	ClinGen ExAC gnomAD
rs1001470159 CA59897108	236	F>S		No	ClinGen TOPMed gnomAD
CA349128358 RCV000591493 rs72551306	238	G>A		No	ClinGen ClinVar Ensembl dbSNP
CA1951808 rs761427642	239	W>L		No	ClinGen ExAC gnomAD
TCGA novel	241	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1436964715 CA349128261	242	T>I		No	ClinGen gnomAD
rs895814774 CA349128228	243	L>F		No	ClinGen gnomAD
CA59897075 rs370060847	245	I>V		No	ClinGen ESP
CA349127982 rs1265851804	250	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1016044993 CA59897063	250	P>S		No	ClinGen TOPMed
rs1573953139 CA349127883	252	I>M		No	ClinGen Ensembl
CA1951804 rs775795451	252	I>T		No	ClinGen ExAC gnomAD
CA59897061 rs1024150441	252	I>V		No	ClinGen TOPMed
CA349127865 rs1324562575	253	G>E		No	ClinGen TOPMed gnomAD
RCV000329376 rs886044711 CA10607091	253	G>R		No	ClinGen ClinVar Ensembl dbSNP
CA349127863 rs1324562575	253	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1573953120 CA349127804	254	I>M		No	ClinGen Ensembl
CA349127787 rs1299745800	255	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1573953103 CA349127776	256	A>P		No	ClinGen Ensembl
RCV000594472 rs1553470037 CA349127737	257	A>V		No	ClinGen ClinVar Ensembl dbSNP
CA1951803 rs772628889	258	T>A		No	ClinGen ExAC gnomAD
CA349127669 rs1167027435	259	I>S		No	ClinGen TOPMed
rs897172862 CA349125840	262	S>N		No	ClinGen TOPMed gnomAD
rs897172862 CA59895352	262	S>T		No	ClinGen TOPMed gnomAD
CA349125803 rs1489020295	265	K>R		No	ClinGen gnomAD
CA1951789 rs377039594	268	D>Y		No	ClinGen ESP ExAC gnomAD
CA349125758 rs1171007715	269	Y>C		No	ClinGen TOPMed gnomAD
rs1170842960 CA349125734	271	L>V		No	ClinGen gnomAD
rs1479054328 CA349125707	273	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1951786 rs766975012	275	A>D		No	ClinGen ExAC gnomAD
CA349125678 rs1481940811	276	K>E		No	ClinGen gnomAD
CA349125659 RCV000734516 rs1558912790	277	A>E		No	ClinGen ClinVar Ensembl dbSNP
CA349125647 rs1253763035	278	G>A		No	ClinGen TOPMed gnomAD
RCV000733624 rs1205653279 CA349125643	279	V>M		No	ClinGen ClinVar dbSNP gnomAD
rs760047156 CA1951785	280	V>A		No	ClinGen ExAC gnomAD
rs1558912774 RCV000729749 CA349125602	283	E>*		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	283	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000334807 CA1951782 rs763412030	285	I>T		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA349125533 rs1186391663	288	M>I		No	ClinGen TOPMed
rs372861607 CA1951781	288	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs886043363 CA10605433 RCV000399471	290	T>R		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1310194729 CA349125512	291	V>M		No	ClinGen gnomAD
CA349125504 RCV000733744 rs1558912727	292	A>S		No	ClinGen ClinVar Ensembl dbSNP
rs770123866 CA1951780	293	A>G		No	ClinGen ExAC gnomAD
rs770123866 CA349125497	293	A>V		No	ClinGen ExAC gnomAD
CA349125489 rs1470965152	294	F>L		No	ClinGen TOPMed
rs76133714 CA59895308	295	G>C		No	ClinGen ExAC gnomAD
CA1951778 rs781303951 RCV000735019	295	G>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1951779 rs76133714	295	G>R		No	ClinGen ExAC gnomAD
CA349125484 rs1416235000	296	G>S		No	ClinGen gnomAD
CA1951775 rs2287617	299	R>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1951773 rs777603009	299	R>S		No	ClinGen ExAC TOPMed gnomAD
CA59895284 rs267598994	300	E>K		No	ClinGen Ensembl
CA1951771 rs752322076	301	V>A		No	ClinGen ExAC gnomAD
CA1951772 rs755761146	301	V>I		No	ClinGen ExAC TOPMed gnomAD
CA349125452 rs755761146	301	V>L		No	ClinGen ExAC TOPMed gnomAD
rs767002817 CA1951770	303	R>K		No	ClinGen ExAC TOPMed gnomAD
CA59893083 rs755780123	303	R>S		No	ClinGen TOPMed gnomAD
CA349125438 rs767002817	303	R>T		No	ClinGen ExAC TOPMed gnomAD
rs747776920 CA1951753	306	K>E		No	ClinGen ExAC TOPMed gnomAD
RCV000997301 rs780710769 CA1951752	308	L>F		No	ClinGen ClinVar ExAC dbSNP gnomAD
TCGA novel	308	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1465864990 CA349124640	309	V>A		No	ClinGen gnomAD
TCGA novel	311	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200509511 CA59893082	311	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs200509511 CA1951750	311	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1321469497 CA349124601	311	A>V		No	ClinGen gnomAD
CA349124587 rs1288215975	312	Q>R		No	ClinGen gnomAD
rs375087680 CA1951749 RCV000730646	313	R>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1951747 rs372175341	313	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1951748 rs375087680	313	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA349124527 rs1432989021	316	I>V		No	ClinGen gnomAD
rs765590705 CA1951746	317	R>G		No	ClinGen ExAC TOPMed gnomAD
rs368142114 CA1951745	317	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1951744 rs374262721 RCV000592142	318	K>E		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs764220319 CA1951743	318	K>N		No	ClinGen ExAC gnomAD
rs772170573 CA1951741	320	I>L		No	ClinGen ExAC gnomAD
CA349124430 rs1573942118	321	V>A		No	ClinGen Ensembl
CA349124435 rs1573942124	321	V>M		No	ClinGen Ensembl
CA349124420 rs1166711071	322	M>L		No	ClinGen gnomAD
rs749174949 CA1951740	322	M>T		No	ClinGen ExAC gnomAD
rs1166711071 CA349124422	322	M>V		No	ClinGen gnomAD
rs1192578960 CA349124371	324	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1487274737 CA349124364	325	F>L		No	ClinGen gnomAD
rs773036125 CA1951739	327	G>E		No	ClinGen ExAC TOPMed gnomAD
CA349124313 rs1322771504	328	F>S		No	ClinGen gnomAD
CA59893059 rs1031565435	329	V>M		No	ClinGen gnomAD
CA1951737 rs747888517	330	W>*		No	ClinGen ExAC gnomAD
CA1951736 rs781095864	331	C>S		No	ClinGen ExAC gnomAD
rs1386305137 CA349124283	333	I>F		No	ClinGen TOPMed gnomAD
rs1176862568 CA349124259	334	F>L		No	ClinGen TOPMed
rs1436925276 CA349124201	337	Y>*		No	ClinGen gnomAD
rs376427140 CA1951734	338	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA1951733 rs374535231	338	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA349124166 rs1411111028	340	A>V		No	ClinGen TOPMed
TCGA novel	342	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1326325046 CA349124135	342	W>G		No	ClinGen TOPMed
CA349124103 rs1390739927	343	Y>F		No	ClinGen gnomAD
CA1951728 rs757851218	347	L>F		No	ClinGen ExAC gnomAD
rs1488999056 CA349123977	351	E>G		No	ClinGen gnomAD
rs201351924 RCV000592099 CA1951727	352	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs988372619 CA59893046	352	G>R		No	ClinGen TOPMed gnomAD
RCV001090459 rs764569354	353	E>D		No	ClinVar dbSNP
rs376258647 CA59893013	354	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs752938097 CA1951724	355	T>A		No	ClinGen ExAC gnomAD
CA10606134 RCV000347106 rs886043935	357	G>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs886043935 CA349123876	357	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	359	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770495662 CA1951691	362	I>V		No	ClinGen ExAC gnomAD
CA1951690 rs749700736	364	L>F		No	ClinGen ExAC gnomAD
CA1951688 rs756679287	365	S>N		No	ClinGen ExAC gnomAD
rs1433703899 CA349121827	367	I>T		No	ClinGen TOPMed gnomAD
rs781584055 CA1951686	370	A>T		No	ClinGen ExAC
CA349121707 rs1362474671	370	A>V		No	ClinGen gnomAD
CA1951683 rs766325107	376	A>V		No	ClinGen ExAC gnomAD
CA349121454 rs1299355044	377	S>F		No	ClinGen TOPMed
TCGA novel	377	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1951682 rs758522376	378	P>A		No	ClinGen ExAC gnomAD
CA349121334 rs1370701870	382	A>G		No	ClinGen gnomAD
rs1164845690 CA349121319	383	F>S		No	ClinGen gnomAD
rs1553468235 RCV000591921	383	F>missing		No	ClinVar dbSNP
TCGA novel	384	A>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1246310971 CA349121295	384	A>E		No	ClinGen gnomAD
CA1951681 rs753654002	384	A>T		No	ClinGen ExAC gnomAD
rs760754635 CA1951679	387	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA349121231 rs760754635	387	R>G		No	ClinGen ExAC TOPMed gnomAD
rs372784355 CA1951678	387	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1358283631 CA349121170	389	A>P		No	ClinGen gnomAD
rs774066215 CA1951675	393	I>N		No	ClinGen ExAC gnomAD
CA1951676 rs369484793	393	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1951674 rs770280258	395	E>*		No	ClinGen ExAC gnomAD
rs1330086321 CA349120894	397	I>M		No	ClinGen gnomAD
CA349120877 rs1334037275	398	D>G		No	ClinGen gnomAD
RCV000735146 rs1558905159 CA349120891	398	D>N		No	ClinGen ClinVar Ensembl dbSNP
CA349120841 rs1306441373	399	R>S		No	ClinGen gnomAD
CA1951672 rs772766222	399	R>T		No	ClinGen ExAC gnomAD
rs777139573 CA1951649	402	I>T		No	ClinGen ExAC TOPMed gnomAD
rs957989949 CA59883807	402	I>V		No	ClinGen TOPMed
rs768839605 CA1951648	403	I>V		No	ClinGen ExAC TOPMed gnomAD
CA349119459 rs1471489155	404	D>N		No	ClinGen TOPMed gnomAD
rs780343280 CA1951646	405	C>R		No	ClinGen ExAC
rs1558902658 CA349119348	407	S>*		No	ClinGen Ensembl
rs1280723181 CA349119251	411	Y>C		No	ClinGen TOPMed
RCV000733325 rs371656014 CA349119123	415	R>P		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs752613769 CA1951641	417	K>R		No	ClinGen ExAC gnomAD
rs767479900 CA59883775	421	E>K		No	ClinGen Ensembl
CA1951638 rs147522210	423	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs886043703 RCV000396563	424	N>missing		No	ClinVar dbSNP
CA59883708 rs866724267	425	V>L		No	ClinGen Ensembl
CA59883706 rs796189237	426	T>I		No	ClinGen Ensembl
rs879227659 CA59883688	428	H>R		No	ClinGen Ensembl
CA349118766 rs1416250688	429	Y>F		No	ClinGen TOPMed gnomAD
CA349118741 rs1407018483	430	P>H		No	ClinGen gnomAD
TCGA novel	430	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000400756 rs886044714 CA10607094	433	P>A		No	ClinGen ClinVar Ensembl dbSNP
rs1558902462 CA349118688	433	P>R		No	ClinGen Ensembl
CA349118658 rs1312378697	434	E>D		No	ClinGen TOPMed
rs764666510 CA1951634	434	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA349118642 rs1351139454	435	V>A		No	ClinGen TOPMed
CA349118638 rs1351139454	435	V>G		No	ClinGen TOPMed
rs1360835646 CA349117512	439	N>S		No	ClinGen gnomAD
rs764220674 CA1951606	442	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1226299191 CA349117480	443	M>I		No	ClinGen gnomAD
VAR_059106 rs2287622 CA59882138	444	V>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_059107 rs2287622 CA59882133	444	V>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1289740265 CA349117473	445	I>F		No	ClinGen gnomAD
CA349117449 rs773299323	447	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1347955233 CA349117443	447	P>R		No	ClinGen gnomAD
CA1951605 rs773299323	447	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1425176717 CA349117425	449	E>K		No	ClinGen gnomAD
CA1951603 rs542821407	450	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1951604 rs769782500	450	M>T		No	ClinGen ExAC TOPMed gnomAD
RCV000318730 rs1574453486	452	A>missing		No	ClinVar dbSNP
CA349117327 rs1558898919	454	V>A		No	ClinGen Ensembl
CA349117311 rs1477888526	455	G>E		No	ClinGen gnomAD
rs1245308323 CA349117302	456	P>S		No	ClinGen gnomAD
CA349117246 rs190094490	459	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs190094490 CA1951598	459	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	460	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1951597 rs753464547	460	G>R		No	ClinGen ExAC TOPMed
CA349117217 rs1203107162	461	K>R		No	ClinGen gnomAD
rs1343372382 CA349117206	462	S>G		No	ClinGen TOPMed
rs1163486377 CA349117177	463	T>I		No	ClinGen TOPMed gnomAD
CA1951596 rs763612943	465	L>R		No	ClinGen ExAC gnomAD
CA349117156 rs1309399283	465	L>V		No	ClinGen gnomAD
CA349117133 rs1384447459	466	Q>H		No	ClinGen TOPMed
CA349117124 rs1365794035	467	L>I		No	ClinGen gnomAD
rs752318046 CA1951594	468	I>L		No	ClinGen ExAC TOPMed gnomAD
CA1951592 rs760170064	469	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA349117048 rs1463057954	470	R>L		No	ClinGen TOPMed gnomAD
CA59882091 TCGA novel rs1037332452	471	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen Ensembl
rs1574453508 RCV000791779	473	D>missing		No	ClinVar dbSNP
CA349116965 rs1431047015	474	P>L		No	ClinGen gnomAD
CA349116966 rs1431047015 RCV000730735	474	P>R		No	ClinGen ClinVar dbSNP gnomAD
CA349116932 rs1244254680	476	E>*		No	ClinGen TOPMed
rs763182178 CA1951589	476	E>D		No	ClinGen ExAC gnomAD
CA349116872 rs769843373	478	M>K		No	ClinGen ExAC TOPMed gnomAD
CA1951587 rs769843373	478	M>T		No	ClinGen ExAC TOPMed gnomAD
rs773317037 CA1951588	478	M>V		No	ClinGen ExAC TOPMed gnomAD
RCV001090458 rs1693604604	479	V>M		No	ClinVar dbSNP
rs1693604030 RCV001313058	481	V>E		No	ClinVar dbSNP
CA1951563 rs371742655	481	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA349116165 rs1558897179 RCV000728284	482	D>N		No	ClinGen ClinVar Ensembl dbSNP
rs1336948664 CA349116155	483	G>S		No	ClinGen gnomAD
rs774287993 CA1951561	485	D>N		No	ClinGen ExAC gnomAD
rs770693935 CA1951560	487	R>C		No	ClinGen ExAC TOPMed gnomAD
CA349116100 rs770693935	487	R>S		No	ClinGen ExAC TOPMed gnomAD
CA1951558 rs777671329	488	S>C		No	ClinGen ExAC gnomAD
CA349116079 rs944713270	489	L>I		No	ClinGen TOPMed gnomAD
CA59881310 rs944713270 RCV000732168	489	L>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs747864916 CA349116058	490	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1558897117 CA349116043 RCV000733337	491	I>S		No	ClinGen ClinVar Ensembl dbSNP
CA349116009 rs1387203369	493	W>*		No	ClinGen TOPMed gnomAD
TCGA novel	493	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349116002 rs780796347	494	L>F		No	ClinGen ExAC gnomAD
rs780796347 CA1951555	494	L>V		No	ClinGen ExAC gnomAD
CA349115979 rs1366346212	496	D>V		No	ClinGen TOPMed
rs267598993 CA59881301	497	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA349115908 rs1299402860	500	I>M		No	ClinGen TOPMed
rs1339550430 CA349115883	502	E>G		No	ClinGen TOPMed
rs1206670366 CA349115866	503	Q>K		No	ClinGen gnomAD
CA349115834 rs1264774305	505	P>S		No	ClinGen TOPMed gnomAD
CA349115837 rs1264774305	505	P>T		No	ClinGen TOPMed gnomAD
CA349115809 rs1322694715	507	L>V		No	ClinGen TOPMed
CA1951551 rs759004752	509	S>P		No	ClinGen ExAC gnomAD
rs1574450947 CA349115755	511	T>I		No	ClinGen Ensembl
RCV000389645 rs886044202 CA10606476	512	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA1951548 rs761905396	512	I>V		No	ClinGen ExAC gnomAD
CA349115741 rs1442707854	513	A>T		No	ClinGen gnomAD
TCGA novel	513	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA59881287 rs934030293	515	N>D		No	ClinGen Ensembl
rs1384260935 CA349115706	515	N>T		No	ClinGen gnomAD
CA1951547 rs754081927	516	I>T		No	ClinGen ExAC TOPMed gnomAD
rs764103827 CA1951546	517	R>C		No	ClinGen ExAC gnomAD
RCV000735158 rs760750012 CA1951545	517	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA59881278 rs760750012	517	R>L		No	ClinGen ExAC TOPMed gnomAD
rs775614924 CA1951544	518	Y>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	519	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162621436 CA349115636	520	R>*		No	ClinGen TOPMed
rs762986334 CA1951542	520	R>I		No	ClinGen ExAC gnomAD
TCGA novel	521	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA59881266 rs945938002	521	E>K		No	ClinGen Ensembl
rs772842592 CA1951541	522	D>N		No	ClinGen ExAC TOPMed gnomAD
rs769652427 CA1951540	523	A>G		No	ClinGen ExAC TOPMed gnomAD
CA1951538 rs780992528	524	T>I		No	ClinGen ExAC gnomAD
CA1951539 rs747741736	524	T>S		No	ClinGen ExAC gnomAD
rs959504874 CA59881261	525	M>I		No	ClinGen TOPMed
CA10606060 RCV000372242 rs886043874	525	M>V		No	ClinGen ClinVar dbSNP gnomAD
rs1362383000 CA349115547	526	E>A		No	ClinGen TOPMed
rs886044201 RCV000372196 CA10606475	528	I>T		No	ClinGen ClinVar TOPMed dbSNP
CA349115504 rs1490802955	529	V>I		No	ClinGen gnomAD
CA1951537 rs768487021	531	A>D		No	ClinGen ExAC gnomAD
CA349115431 rs1336943297	534	E>G		No	ClinGen gnomAD
CA349115440 RCV000594265 rs746501606	534	E>K		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA1951536 rs746501606	534	E>Q		No	ClinGen ExAC gnomAD
rs926925366 CA59881226	536	N>S		No	ClinGen TOPMed gnomAD
CA1951535 rs758803305	537	A>T		No	ClinGen ExAC gnomAD
rs750975007 CA1951534	538	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1951532 rs757655177	540	F>L		No	ClinGen ExAC
CA59881211 rs979738325	541	I>L		No	ClinGen gnomAD
rs753994013 CA1951531 RCV000597368	541	I>T		No	ClinGen ClinVar ExAC dbSNP
CA1951528 rs762749352	542	M>K		No	ClinGen ExAC gnomAD
CA1951526 rs762749352	542	M>R		No	ClinGen ExAC gnomAD
CA1951527 rs762749352	542	M>T		No	ClinGen ExAC gnomAD
CA1951529 rs756376413	542	M>V		No	ClinGen ExAC gnomAD
rs200687717 CA1951523	543	D>A		No	ClinGen ExAC gnomAD
rs200687717 CA349115225 RCV000732000	543	D>G		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs764870139 CA1951524	543	D>H		No	ClinGen ExAC gnomAD
rs764870139 CA1951525	543	D>N		No	ClinGen ExAC gnomAD
RCV000595204 rs1553466489	544	L>missing		No	ClinVar dbSNP
rs1462645955 CA349115212	544	L>M		No	ClinGen gnomAD
rs1474611521 CA349114304	547	Q>H		No	ClinGen gnomAD
RCV000594092 rs757224691 CA1951486	550	T>N		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs753853173 CA1951485	551	L>F		No	ClinGen ExAC TOPMed gnomAD
RCV001043925 rs1693519718	552	V>missing		No	ClinVar dbSNP
rs1360323692 CA349114238	552	V>D		No	ClinGen gnomAD
rs1470545398 CA349114216	554	E>Q		No	ClinGen gnomAD
RCV000597185 rs370566153 CA1951483	555	G>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs370566153 CA349114194	555	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000294140 CA10605916 rs886043762	557	G>D		No	ClinGen ClinVar Ensembl dbSNP
CA349114181 rs1364382228	557	G>S		No	ClinGen TOPMed gnomAD
CA1951481 rs11568369 VAR_083784	558	Q>H	impairs taurocholate transport activity; does not affect protein expression; does not affect cell surface protein expression; does not affect cell membrane localization [UniProt]	No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA1951480 rs759162499	559	M>I		No	ClinGen ExAC gnomAD
rs1187818271 CA349114127	560	S>N		No	ClinGen TOPMed
rs1558895094 CA349114111 RCV000730424	561	G>D		No	ClinGen ClinVar Ensembl dbSNP
CA349114035 rs1424715238	566	R>K		No	ClinGen gnomAD
CA349114030 rs1424715238	566	R>M		No	ClinGen gnomAD
CA349114028 rs1026929124	566	R>S		No	ClinGen gnomAD
TCGA novel	568	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1951475 rs770349223	572	A>S		No	ClinGen ExAC TOPMed gnomAD
CA349113964 rs770349223	572	A>T		No	ClinGen ExAC TOPMed gnomAD
rs748529595 CA1951474	572	A>V		No	ClinGen ExAC gnomAD
CA349113932 rs1279160937	574	I>M		No	ClinGen gnomAD
CA349113936 rs1346179683	574	I>T		No	ClinGen gnomAD
RCV000733362 CA1951473 rs200667815	575	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA59880153 rs879100064	577	P>S		No	ClinGen Ensembl
CA349113902 rs879100064	577	P>T		No	ClinGen Ensembl
CA349113890 rs1389106831	578	K>E		No	ClinGen TOPMed
CA1951472 rs373193237	578	K>R		No	ClinGen ESP ExAC gnomAD
rs980599728 CA59880148	580	L>P		No	ClinGen TOPMed
rs758569602 CA1951470 RCV000729410	581	L>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1236007920 CA349113804	583	D>G		No	ClinGen TOPMed
CA10606285 RCV000339080 rs886044053 RCV000388394 CA10607078	584	M>I		No	ClinGen ClinVar Ensembl dbSNP
rs1222655660 CA349113775	585	A>T		No	ClinGen gnomAD
CA349113759 rs1321213158	586	T>I		No	ClinGen TOPMed gnomAD
rs1321213158 CA349113763	586	T>N		No	ClinGen TOPMed gnomAD
CA349113726 rs917981474	588	A>G		No	ClinGen TOPMed gnomAD
rs373443561 CA1951468	596	M>I		No	ClinGen ESP ExAC gnomAD
CA59880110 rs892224423	596	M>V		No	ClinGen Ensembl
CA349113553 rs72886795 CA349113559	597	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA16621985 rs72886795	597	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs767244782 CA1951467	598	Q>H		No	ClinGen ExAC gnomAD
rs1440879842 CA349113542	598	Q>K		No	ClinGen gnomAD
rs996193241 CA59880079	599	E>Q		No	ClinGen TOPMed
rs886044602 RCV000310959 CA10606964	601	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA349113444 rs1427593056	602	S>T		No	ClinGen gnomAD
rs1485454524 CA349112669	607	G>E		No	ClinGen gnomAD
RCV001050462 rs1693477912	610	I>missing		No	ClinVar dbSNP
CA1951446 rs765999088	610	I>T		No	ClinGen ExAC gnomAD
CA1951447 rs200185768	610	I>V		No	ClinGen ExAC TOPMed gnomAD
RCV000729194 CA349112605 rs1469344983	611	I>T		No	ClinGen ClinVar TOPMed dbSNP
RCV000731772 rs1243148431 CA349112586	613	V>I		No	ClinGen ClinVar dbSNP gnomAD
CA349112569 rs1384540976	614	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs764682080 CA1951443	615	H>L		No	ClinGen ExAC gnomAD
rs764682080 CA349112554	615	H>R		No	ClinGen ExAC gnomAD
rs369187042 CA1951442 RCV000734054	616	R>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_035350	616	R>G		No	UniProt
rs777021400 CA1951441 RCV000596424	616	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA59879769 rs963949609	617	L>F		No	ClinGen TOPMed gnomAD
rs912519986 CA59879764 VAR_035351	619	T>A		No	ClinGen UniProt TOPMed dbSNP gnomAD
CA1951440 rs764456928	619	T>M		No	ClinGen ExAC TOPMed gnomAD
rs776055806 CA1951438	624	D>G		No	ClinGen ExAC gnomAD
CA349112446 rs776055806 RCV000597520	624	D>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA349112431 rs1188568905	625	T>S		No	ClinGen gnomAD
CA349112408 RCV000733336 rs1558894309	627	I>T		No	ClinGen ClinVar Ensembl dbSNP
rs956426708 CA59879750	629	F>Y		No	ClinGen Ensembl
CA349112339 rs1326761610	632	G>C		No	ClinGen TOPMed
CA349112336 rs1372917359	632	G>D		No	ClinGen TOPMed
CA240720 RCV000175049 rs794727169	634	A>T		No	ClinGen ClinVar Ensembl dbSNP
CA1951436 rs746135028	634	A>V		No	ClinGen ExAC gnomAD
rs1190787525 CA349112291	635	V>E		No	ClinGen gnomAD
rs199671371 CA1951433	636	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA349112283 rs1361039889	636	E>K		No	ClinGen gnomAD
CA1951434 rs199671371	636	E>V		No	ClinGen 1000Genomes ExAC gnomAD
CA349112265 rs1226183141	637	R>G		No	ClinGen TOPMed gnomAD
rs375039345 CA1951432	637	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs755000612 CA1951431	637	R>S		No	ClinGen ExAC gnomAD
rs1216225568 CA349112236	639	T>N		No	ClinGen TOPMed
CA1951430 rs746784473	641	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779863245 CA1951429	642	E>D		No	ClinGen ExAC gnomAD
TCGA novel	642	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758004990 CA1951428	644	L>P		No	ClinGen ExAC TOPMed gnomAD
CA1951426 rs764748260	645	E>G		No	ClinGen ExAC gnomAD
CA349112138 rs1254413989	646	R>G		No	ClinGen TOPMed
CA349112124 rs1461620540	648	G>S		No	ClinGen gnomAD
rs1558894166 RCV000732992	650	Y>missing		No	ClinVar dbSNP
CA349112111 rs1371562278	650	Y>H		No	ClinGen gnomAD
rs868080119 CA59879684	651	F>C		No	ClinGen TOPMed
rs868080119 CA59879687	651	F>S		No	ClinGen TOPMed
rs1478060232 CA349112080	652	T>A		No	ClinGen gnomAD
rs1377397092 CA349112071	652	T>I		No	ClinGen TOPMed
rs764500328 CA1951423	653	L>P		No	ClinGen ExAC gnomAD
RCV000729545 rs775969731 CA1951421	655	T>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000488278 rs1064797270	656	L>missing		No	ClinVar dbSNP
CA1951419 rs759772174	656	L>F		No	ClinGen ExAC
CA349112019 rs1465109174	656	L>V		No	ClinGen TOPMed
CA1951418 rs774437128	659	Q>R		No	ClinGen ExAC gnomAD
CA349111910 rs1252769722	662	Q>E		No	ClinGen gnomAD
rs749311315 CA1951416	662	Q>L		No	ClinGen ExAC gnomAD
rs1023722635 CA59879618	663	A>D		No	ClinGen Ensembl
rs371319925 CA1951415	663	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1951414 rs367713824	664	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1951413 rs367713824	664	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA349111786 rs1326800279	666	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1558894022 CA349111668	669	I>M		No	ClinGen Ensembl
RCV000591286 CA349111644 rs1553466025	670	K>N		No	ClinGen ClinVar Ensembl dbSNP
CA1951395 rs775412382	671	D>A		No	ClinGen ExAC gnomAD
rs772064562 CA1951394	674	E>*		No	ClinGen ExAC gnomAD
CA1951393 rs745650553	675	D>G		No	ClinGen ExAC
VAR_043076	676	D>Y	fluvastatin-induced cholestasis; does not affect transport capacity for taurocholate [UniProt]	No	UniProt
rs200912109 CA349111372	679	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA349111364 rs1178729678	680	R>G		No	ClinGen gnomAD
CA349111359 rs1443562207	680	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1240961419 CA349111341	681	T>I		No	ClinGen gnomAD
CA349111345 rs1240961419	681	T>N		No	ClinGen gnomAD
CA59878978 rs902417976	682	F>I		No	ClinGen TOPMed
CA59878976 rs1043651710	684	R>I		No	ClinGen Ensembl
rs752319339 CA1951387	685	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1279918927 CA349111265	686	S>R		No	ClinGen gnomAD
rs755587533 CA1951385	687	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs1157197296 CA349111237	688	Q>R		No	ClinGen gnomAD
TCGA novel	689	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349111212 rs1349196154	690	S>I		No	ClinGen gnomAD
TCGA novel	692	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1951372 rs748837264	693	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1239937610 CA349109556	694	S>F		No	ClinGen TOPMed gnomAD
rs1358484306 CA349109545	695	I>T		No	ClinGen TOPMed
CA349109420 rs1195082619	702	Q>*		No	ClinGen gnomAD
CA1951364 rs750821906	703	L>F		No	ClinGen ExAC TOPMed gnomAD
rs886043478 RCV000267050 CA10605568	704	S>P		No	ClinGen ClinVar TOPMed dbSNP
TCGA novel	706	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	707	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266800544 CA349109335	707	V>M		No	ClinGen gnomAD
rs943294340 CA59876840	710	P>L		No	ClinGen TOPMed gnomAD
CA349109279 rs1278645205	711	P>A		No	ClinGen gnomAD
RCV000734433 rs372939910 CA1951360	712	L>S		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1294702136 CA349109183	713	A>S		No	ClinGen TOPMed gnomAD
CA349109177 rs1436652439	713	A>V		No	ClinGen TOPMed gnomAD
CA349109171 rs1189220556	714	V>F		No	ClinGen TOPMed
rs1353544286 CA349109158	715	V>I		No	ClinGen gnomAD
rs1353544286 CA349109157	715	V>L		No	ClinGen gnomAD
rs1359682296 CA349109144	716	D>A		No	ClinGen TOPMed gnomAD
rs1359682296 CA349109143	716	D>G		No	ClinGen TOPMed gnomAD
rs1326498523 CA349109146	716	D>H		No	ClinGen gnomAD
CA349109135 rs1464361566	717	H>N		No	ClinGen gnomAD
rs201255929 CA1951359	717	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA349109088 rs1171857255	720	T>A		No	ClinGen gnomAD
CA349109089 rs1171857255	720	T>S		No	ClinGen gnomAD
rs766290765 CA1951357	721	Y>C		No	ClinGen ExAC gnomAD
rs868210225 CA59876795	722	E>*		No	ClinGen Ensembl
CA349109049 rs1429037453	722	E>D		No	ClinGen TOPMed
CA1951355 rs773186893	722	E>G		No	ClinGen ExAC gnomAD
rs1574439329 CA349109024	724	D>A		No	ClinGen Ensembl
TCGA novel	724	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769536719 CA1951354	725	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1202648480 CA349109008	725	R>T		No	ClinGen gnomAD
CA59876787 rs987307558	726	K>*		No	ClinGen TOPMed
CA1951333 rs776427051	727	D>E		No	ClinGen ExAC gnomAD
CA1951332 rs768261137	729	D>H		No	ClinGen ExAC gnomAD
rs369030137 CA59873905	729	D>V		No	ClinGen ESP
rs1027169476 CA59873901	730	I>L		No	ClinGen TOPMed gnomAD
rs760220974 CA349107133	730	I>S		No	ClinGen ExAC TOPMed gnomAD
rs760220974 CA1951331	730	I>T		No	ClinGen ExAC TOPMed gnomAD
rs201240844 CA349107128	731	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA1951327 rs779204797	732	V>A		No	ClinGen ExAC TOPMed gnomAD
RCV000592173 rs746408716 CA1951328	732	V>L		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA59873890 rs746408716	732	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1182247182 CA349107047	736	V>D		No	ClinGen gnomAD
CA1951325 rs749448543	738	P>H		No	ClinGen ExAC gnomAD
CA59873887 rs376842756	738	P>S		No	ClinGen ESP gnomAD
rs376842756 CA59873888	738	P>T		No	ClinGen ESP gnomAD
rs1218136853 CA349106988	739	A>D		No	ClinGen gnomAD
CA1951324 rs778040359	740	P>S		No	ClinGen ExAC gnomAD
CA349106959 rs1225457486	741	V>A		No	ClinGen TOPMed
rs756337359 CA59873878	741	V>F		No	ClinGen ExAC TOPMed gnomAD
rs756337359 RCV000729134 CA1951323	741	V>I		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1315192598 CA349106921	743	R>S		No	ClinGen gnomAD
rs1187136109 CA349106901	745	L>P		No	ClinGen TOPMed
CA349106883 rs1361857449	747	F>S		No	ClinGen gnomAD
CA349106878 rs1206614872	748	S>G		No	ClinGen gnomAD
rs1421958534 CA349106874	748	S>I		No	ClinGen TOPMed
TCGA novel	749	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA59873863 rs934467520	749	A>V		No	ClinGen Ensembl
CA349106846 rs1401892400	752	W>*		No	ClinGen gnomAD
CA1951319 rs750399349	755	M>I		No	ClinGen ExAC gnomAD
CA349106828 CA1951320 rs368297188	755	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	755	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1951318 rs765055611	758	G>E		No	ClinGen ExAC gnomAD
CA349106787 rs1427755108	762	A>P		No	ClinGen gnomAD
rs1267480886 CA349106752	767	T>I		No	ClinGen gnomAD
CA349106738 rs1358017327	770	P>T		No	ClinGen TOPMed gnomAD
rs1371940395 CA349106719 RCV001222725	772	Y>*		No	ClinGen gnomAD ClinVar dbSNP
CA349106722 rs1234794803	772	Y>C		No	ClinGen gnomAD
rs1245963202 CA349106712	774	F>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1245963202 CA349106711	774	F>L		No	ClinGen gnomAD
rs1307329774 CA349106709	774	F>Y		No	ClinGen TOPMed gnomAD
rs1013897332 CA59873820	776	F>L		No	ClinGen TOPMed
CA1951310 rs774845820	778	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	778	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774845820 CA349106682	778	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA59881023 rs553510412	782	T>N		No	ClinGen 1000Genomes gnomAD
rs910996715 CA59881013	783	F>I		No	ClinGen TOPMed
CA349128064 rs1191428346	784	S>L		No	ClinGen gnomAD
rs1332864334 CA349128051	785	I>F		No	ClinGen gnomAD
CA349128054 rs1332864334	785	I>V		No	ClinGen gnomAD
rs1302098563 CA349128024	786	P>L		No	ClinGen gnomAD
CA349128029 rs1178852197	786	P>S		No	ClinGen gnomAD
CA349128001 rs1390979532	787	D>V		No	ClinGen gnomAD
rs1250716432 CA349128023	787	D>Y		No	ClinGen gnomAD
rs1398378368 CA349127975	788	K>N		No	ClinGen gnomAD
CA349127924 rs1171867548	790	E>G		No	ClinGen TOPMed
rs773896392 CA1951291	790	E>Q		No	ClinGen ExAC gnomAD
CA349127882 rs1170792635	792	R>G		No	ClinGen gnomAD
CA1951290 rs766838202	792	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1377651614 CA349127842	793	S>L		No	ClinGen gnomAD
CA349127838 rs1060499579	794	Q>K		No	ClinGen gnomAD
rs1437364103 CA349127827	794	Q>R		No	ClinGen gnomAD
rs1411143127 CA349127809	795	I>T		No	ClinGen TOPMed
CA349127794 rs1200898580	796	N>D		No	ClinGen TOPMed gnomAD
TCGA novel	797	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	801	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763478813 CA1951289	801	L>R		No	ClinGen ExAC TOPMed gnomAD
rs368092083 CA59881000	802	F>L		No	ClinGen ESP TOPMed gnomAD
CA349127573 rs1347767897	804	A>V		No	ClinGen gnomAD
rs770066051 CA1951287	808	V>A		No	ClinGen ExAC gnomAD
rs748335505 CA1951286	809	S>F		No	ClinGen ExAC gnomAD
rs1447211125 CA349127320	812	T>I		No	ClinGen gnomAD
RCV001239731 rs1692230196	815	L>FSK*		No	ClinVar dbSNP
CA59880892 rs1043182223	817	G>E		No	ClinGen Ensembl
CA349127161 rs374548469	818	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs374548469 CA1951273	818	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA1951272 rs765892854	819	A>P		No	ClinGen ExAC gnomAD
CA1951271 rs763389560	819	A>V		No	ClinGen ExAC gnomAD
rs866565512 CA59880883	820	F>L		No	ClinGen Ensembl
CA349127126 rs1361841503	821	A>T		No	ClinGen gnomAD
RCV000733900 rs1559191495 CA349127011	824	G>E		No	ClinGen ClinVar Ensembl dbSNP
CA1951269 rs765838062	826	L>F		No	ClinGen ExAC TOPMed gnomAD
CA349126951 rs1411263261	826	L>P		No	ClinGen gnomAD
CA1951266 rs768970711	828	T>I		No	ClinGen ExAC gnomAD
TCGA novel	830	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747266011 CA1951265	830	R>T		No	ClinGen ExAC TOPMed
CA349126720 rs1487609505	831	L>P		No	ClinGen gnomAD
rs1574415738 RCV000795996	832	R>missing		No	ClinVar dbSNP
CA59880798 RCV000594076 rs376255350	832	R>H		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV000729349 rs376255350 CA349126695	832	R>L		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA1951261 rs749186418	833	K>N		No	ClinGen ExAC gnomAD
rs777570649 CA1951260	834	F>L		No	ClinGen ExAC gnomAD
CA349126646 rs1229798093	835	G>S		No	ClinGen gnomAD
rs1401975387 CA349126591	838	A>T		No	ClinGen TOPMed
CA1951258 rs747862823	839	M>T		No	ClinGen ExAC gnomAD
rs1339854282 CA349126540	840	L>M		No	ClinGen TOPMed
CA1951256 rs754572557	841	G>R		No	ClinGen ExAC gnomAD
rs377240498 CA1951254	843	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	845	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1208988638 CA349126400 RCV000734053	846	W>C		No	ClinGen ClinVar TOPMed dbSNP
rs1574415650 RCV000814552	847	F>missing		No	ClinVar dbSNP
rs1284932204 CA349126366	848	D>G		No	ClinGen TOPMed
rs1325159302 CA349126377	848	D>H		No	ClinGen gnomAD
rs1414919070 CA349126307	851	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1261840691 CA349126265	853	S>I		No	ClinGen TOPMed
rs1261840691 CA349126267	853	S>N		No	ClinGen TOPMed
rs757842499 CA1951253	853	S>R		No	ClinGen ExAC gnomAD
VAR_043077	855	G>R	ethinylestradiol/gestodene-induced cholestasis; loss of transport capacity for taurocholate [UniProt]	No	UniProt
CA349126216 rs1189254206	856	A>T		No	ClinGen TOPMed
rs755766647 CA59880710	857	L>S		No	ClinGen Ensembl
CA1951250 rs762423892	858	T>R		No	ClinGen ExAC gnomAD
CA1951248 rs764575275	859	T>A		No	ClinGen ExAC gnomAD
rs1452420308 CA349126159	859	T>R		No	ClinGen gnomAD
rs1255186631 CA349126137	860	R>S		No	ClinGen gnomAD
rs1196596831 CA349126108	863	T>A		No	ClinGen gnomAD
rs952745163 CA59880694	870	G>R		No	ClinGen TOPMed
CA1951245 rs201068438	870	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559185012 CA349125002	871	A>V		No	ClinGen Ensembl
rs1238504599 CA349124992	872	A>G		No	ClinGen gnomAD
CA1951222 rs559849564 RCV000997300	873	G>S		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA1951221 rs184334834	874	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1559184972 CA349124969 RCV000734812	875	Q>E		No	ClinGen ClinVar Ensembl dbSNP
CA1951219 rs200127070	876	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1951217 rs778230126	878	M>K		No	ClinGen ExAC gnomAD
CA349124916 rs1353977501	879	I>M		No	ClinGen gnomAD
CA1951216 rs756797612	879	I>R		No	ClinGen ExAC gnomAD
rs748876735 CA1951215	881	N>H		No	ClinGen ExAC gnomAD
rs1395869738 CA349124884	882	S>F		No	ClinGen gnomAD
rs756738723 CA1951214	885	N>K		No	ClinGen ExAC TOPMed gnomAD
CA1951212 rs753083832	886	V>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	887	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	888	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA59876124 rs555007072	890	M>I		No	ClinGen Ensembl
rs755093559 CA1951210	891	I>N		No	ClinGen ExAC TOPMed gnomAD
CA1951211 rs755093559	891	I>S		No	ClinGen ExAC TOPMed gnomAD
rs1421685722 CA349124701	901	S>R		No	ClinGen TOPMed gnomAD
TCGA novel	905	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349124634 rs1218245894	908	F>S		No	ClinGen gnomAD
CA1951205 rs763987525	908	F>V		No	ClinGen ExAC gnomAD
rs1264542081 CA349124627	909	P>S		No	ClinGen gnomAD
CA349124590 rs1315294043	912	A>V		No	ClinGen gnomAD
rs771916234 CA1951202	916	A>V		No	ClinGen ExAC gnomAD
CA349124551 rs1296417587	917	T>A		No	ClinGen gnomAD
rs999845465 CA59876051	917	T>R		No	ClinGen TOPMed
CA349124523 rs1476123304	920	R>G		No	ClinGen gnomAD
rs770550197 CA1951199	921	M>K		No	ClinGen ExAC gnomAD
rs777469571 CA59876016	923	T>A		No	ClinGen ExAC gnomAD
CA1951195 RCV000593762 rs756529333	928	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA349124446 rs200488448	928	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA349124428 rs1559184633	930	K>Q		No	ClinGen Ensembl
CA349124405 rs1207644034	932	A>T		No	ClinGen gnomAD
TCGA novel	934	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349124342 rs1275365082	937	G>A		No	ClinGen TOPMed gnomAD
rs190613050 CA1951171	939	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1951169 rs757325985	941	N>S		No	ClinGen ExAC gnomAD
CA349124222 rs1404740012	943	A>T		No	ClinGen TOPMed
rs753926408 CA1951168	944	L>V		No	ClinGen ExAC TOPMed gnomAD
CA349124204 rs1392865456	945	S>G		No	ClinGen Ensembl
CA1951165 rs751332935	947	I>S		No	ClinGen ExAC gnomAD
rs766286901 CA1951164	948	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1951163 rs762623227	949	T>A		No	ClinGen ExAC gnomAD
rs1392116569 CA349124155	949	T>I		No	ClinGen TOPMed gnomAD
rs772992665 CA1951162	950	V>I		No	ClinGen ExAC gnomAD
rs1162654918 CA349124088	956	E>G		No	ClinGen gnomAD
CA1951160 rs761363245	958	R>P		No	ClinGen ExAC TOPMed gnomAD
VAR_035354 rs761363245 CA1951159	958	R>Q		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV000729353 CA59875208 rs766744091	958	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA59875191 rs182129818	959	F>C		No	ClinGen Ensembl
CA59875196 rs186967666	959	F>V		No	ClinGen Ensembl
CA349124048 rs1281152956	960	I>M		No	ClinGen gnomAD
CA349124051 rs769166021	960	I>N		No	ClinGen ExAC TOPMed gnomAD
CA1951157 rs769166021	960	I>T		No	ClinGen ExAC TOPMed gnomAD
rs776042962 CA1951158	960	I>V		No	ClinGen ExAC gnomAD
CA349124004 rs187663132	965	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187663132 CA1951155	965	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1951154 rs772431527	966	E>K		No	ClinGen ExAC gnomAD
rs201881755 RCV000732011 CA349123953	969	K>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000728144 CA1951152 rs779096015	970	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA59875154 rs192999247	971	F>L		No	ClinGen Ensembl
CA59875157 rs193101681	971	F>Y		No	ClinGen Ensembl
CA1951151 rs757527056	973	T>I		No	ClinGen ExAC
CA1951148 rs369859057	977	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA349123819 rs1574405020	979	N>S		No	ClinGen Ensembl
rs1559183490 RCV000734515	984	C>missing		No	ClinVar dbSNP
TCGA novel	989	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1160633234 CA349123680	989	Q>R		No	ClinGen gnomAD
CA59875120 rs1028421736	991	I>V		No	ClinGen Ensembl
CA59875116 rs998321697	992	M>T		No	ClinGen Ensembl
rs1470739290 CA349123568	994	I>T		No	ClinGen gnomAD
rs868669576 CA349123555	995	A>E		No	ClinGen gnomAD
rs868669576 CA59875113	995	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	999	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750289299 CA1951144	999	S>P		No	ClinGen ExAC gnomAD
CA1951143 rs764949363	1000	Y>C		No	ClinGen ExAC gnomAD
CA349123473 rs776156961	1001	R>*		No	ClinGen ExAC gnomAD
rs776156961 CA1951141	1001	R>G		No	ClinGen ExAC gnomAD
rs1235000659 CA349123462 RCV000729647	1002	Y>C		No	ClinGen ClinVar dbSNP gnomAD
rs768064578 CA1951140	1002	Y>H		No	ClinGen ExAC gnomAD
CA349123411 RCV000595841 rs761177506	1004	G>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA1951139 rs761177506	1004	G>S		No	ClinGen ExAC gnomAD
rs375151067 CA59875091	1004	G>V		No	ClinGen ESP
CA1951138 rs775974296	1005	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1005	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs188946054 CA59875077	1006	L>F		No	ClinGen Ensembl
CA1951137 rs557214751	1007	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA59875061 rs183499641	1009	N>H		No	ClinGen Ensembl
rs774741336 CA1951135	1009	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1404420259 CA349123333	1009	N>S		No	ClinGen gnomAD
rs1419277835 CA349123215	1016	Y>C		No	ClinGen gnomAD
CA349123219 rs1476469096	1016	Y>N		No	ClinGen gnomAD
CA1951131 rs756140872	1018	F>L		No	ClinGen ExAC gnomAD
rs763634627 CA349122607	1023	A>E		No	ClinGen ExAC gnomAD
CA1951106 rs763634627	1023	A>V		No	ClinGen ExAC gnomAD
rs1018318249 CA59873298	1024	V>D		No	ClinGen TOPMed
rs1331120015 CA349122598	1025	V>L		No	ClinGen TOPMed gnomAD
CA349122590 rs1559180842 RCV000730734	1026	L>R		No	ClinGen ClinVar Ensembl dbSNP
CA349122583 rs1356859208	1027	S>R		No	ClinGen gnomAD
rs1171209104 CA349122576	1028	A>V		No	ClinGen gnomAD
CA349122566 rs1309126419	1030	A>V		No	ClinGen TOPMed
CA59873290 rs891423760	1037	Y>C		No	ClinGen TOPMed gnomAD
rs759983106 CA1951102	1038	T>A		No	ClinGen ExAC gnomAD
rs1288008891 CA349122515	1038	T>N		No	ClinGen TOPMed
CA349122511 rs1176617176	1039	P>A		No	ClinGen gnomAD
rs766964042 CA1951101	1041	Y>*		No	ClinGen ExAC gnomAD
rs1010411782 CA59873278	1042	A>S		No	ClinGen TOPMed gnomAD
rs1010411782 CA349122491	1042	A>T		No	ClinGen TOPMed gnomAD
CA59873274 RCV000730337 rs926040478	1044	A>P		No	ClinGen ClinVar Ensembl dbSNP
CA1951096 rs762147253	1045	K>E		No	ClinGen ExAC gnomAD
CA349122454 rs1308990340	1047	S>L		No	ClinGen gnomAD
CA349122459 rs1352533587	1047	S>T		No	ClinGen gnomAD
CA349122451 rs1254033843	1048	A>S		No	ClinGen TOPMed
CA349122447 RCV000728577 rs1559180694	1049	A>T		No	ClinGen ClinVar Ensembl dbSNP
rs946572327 CA59873261	1050	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1051	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1051	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1373646294 CA349122425	1052	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs747153406 CA1951093	1055	L>P		No	ClinGen ExAC gnomAD
CA349122382 rs1180815711	1059	P>H		No	ClinGen TOPMed
CA349122385 rs1559180619	1059	P>T		No	ClinGen Ensembl
rs755717909 CA1951088	1060	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1060	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1438849030 CA349122370	1061	I>S		No	ClinGen gnomAD
rs752363781 CA1951087	1061	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1283504049 CA349122367	1062	S>G		No	ClinGen TOPMed gnomAD
rs780618097 CA1951086	1063	V>A		No	ClinGen ExAC TOPMed gnomAD
CA349122352 rs373885791	1064	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1951085 rs373885791	1064	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1308173616 CA349122336	1066	T>I		No	ClinGen gnomAD
rs1228182306 CA349122332	1067	A>G		No	ClinGen gnomAD
CA349122306 rs1275736938	1069	E>D		No	ClinGen TOPMed gnomAD
TCGA novel	1070	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000735192 rs1559179410	1072	D>G		No	ClinVar dbSNP
CA1951065 rs762789280	1073	N>S		No	ClinGen ExAC gnomAD
CA349122113 rs1214802366	1076	G>W		No	ClinGen gnomAD
CA349122102 rs1339313529 RCV000731816	1077	K>E		No	ClinGen ClinVar dbSNP gnomAD
rs919455454 CA59872450	1077	K>N		No	ClinGen TOPMed
CA1951064 rs373201488	1078	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1229780729 CA349122070	1079	D>H		No	ClinGen gnomAD
rs1553545923 RCV000521040	1080	F>missing		No	ClinVar dbSNP
rs1370587865 CA349122025	1080	F>C		No	ClinGen TOPMed
rs1370587865 CA349122028	1080	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA349122011 rs1308282428	1081	V>I		No	ClinGen gnomAD
rs973967505 CA59872444	1082	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	1083	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000731046 CA349121968 rs1559179342	1083	C>Y		No	ClinGen ClinVar Ensembl dbSNP
CA349121924 rs1372852533	1084	K>T		No	ClinGen gnomAD
CA1951061 rs762255602	1088	P>S		No	ClinGen ExAC gnomAD
RCV000592143 rs72549396 CA1951060	1090	R>*		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA349121762 rs1462086662	1090	R>L		No	ClinGen gnomAD
rs1462086662 CA349121770	1090	R>Q		No	ClinGen gnomAD
CA349121745 rs1180718054	1092	D>N		No	ClinGen TOPMed gnomAD
rs1030004521 CA59872416	1093	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs953658667 CA59872420	1093	S>P		No	ClinGen TOPMed gnomAD
rs1194728251 CA349121673	1095	V>A		No	ClinGen gnomAD
CA349121599 rs1483395370	1098	G>A		No	ClinGen TOPMed
CA1951055 rs762737233	1102	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762737233 RCV000305608 CA10605145	1102	S>W		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000729368 CA349121524 rs1480979213	1103	I>T		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs377222158 CA59872386	1104	S>C		No	ClinGen Ensembl
TCGA novel	1105	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1951052 rs747920364	1106	G>E		No	ClinGen ExAC gnomAD
CA59872377 rs1025708273	1108	T>A		No	ClinGen TOPMed
rs373956718 CA1951051	1110	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1951050 rs373956718	1110	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA349121309 rs1330764212	1112	V>A		No	ClinGen gnomAD
rs779375126 CA1951048	1112	V>I		No	ClinGen ExAC TOPMed gnomAD
CA59872363 rs891695981	1114	S>N		No	ClinGen TOPMed
CA349121150 rs1353545517	1120	S>G		No	ClinGen TOPMed
CA349121142 rs1436681091	1120	S>N		No	ClinGen TOPMed
CA59872354 rs1016053414	1122	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs779530257 CA1951045	1124	Q>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1129	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349120934 rs1174631566	1130	Y>C		No	ClinGen TOPMed gnomAD
CA349120893 rs1355823124	1132	P>L		No	ClinGen gnomAD
rs1559179021 RCV000731771 CA349120848	1135	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs759634677 CA1951039	1136	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1951040 rs752974260	1136	K>R		No	ClinGen ExAC gnomAD
TCGA novel	1137	V>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349120815 rs1216401464	1137	V>A		No	ClinGen TOPMed
rs766453646 CA1951019	1138	M>T		No	ClinGen ExAC TOPMed gnomAD
rs765282561 CA59870271	1140	D>H		No	ClinGen Ensembl
CA1951017 rs748967972	1141	G>A		No	ClinGen ExAC gnomAD
CA1951018 rs761682020	1141	G>S		No	ClinGen ExAC gnomAD
rs748967972 CA59870258	1141	G>V		No	ClinGen ExAC gnomAD
CA1951016 CA349119996 rs200735761 RCV000730769	1142	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD ClinVar dbSNP
CA59870254 rs987819151	1142	H>R		No	ClinGen TOPMed
rs531704947 CA1951015	1143	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1182925965 CA349119994	1143	D>N		No	ClinGen TOPMed
rs775198125 CA1951014	1145	K>Q		No	ClinGen ExAC gnomAD
rs759292690 CA1951012	1147	V>I		No	ClinGen ExAC TOPMed gnomAD
rs759292690 CA349119940	1147	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1148	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1355492492 CA349119899	1150	Q>*		No	ClinGen TOPMed gnomAD
CA349119893 rs1574394388	1150	Q>H		No	ClinGen Ensembl
CA59870216 rs369313569	1150	Q>R		No	ClinGen Ensembl
rs1269095828 CA349119884	1151	F>Y		No	ClinGen gnomAD
TCGA novel	1152	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10606195 rs72549395 RCV000268165	1153	R>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs748862206 CA1951009	1153	R>H		No	ClinGen ExAC gnomAD
rs748862206 CA349119863	1153	R>P		No	ClinGen ExAC gnomAD
rs367730178 CA59870190	1154	S>L		No	ClinGen ESP TOPMed
CA1951008 rs778415287	1154	S>T		No	ClinGen ExAC gnomAD
CA59870185 rs917920822	1155	N>D		No	ClinGen Ensembl
rs992165556 CA59870181	1156	I>T		No	ClinGen Ensembl
rs770257769 CA1951007	1158	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1559176523 CA349119799 RCV000730321	1159	V>A		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	1160	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA349119774 rs1448201427	1161	Q>H		No	ClinGen gnomAD
rs1285883256 CA349119751	1163	P>L		No	ClinGen TOPMed
rs1034148630 CA59870144	1165	L>S		No	ClinGen TOPMed gnomAD
CA349119695 rs1355450416	1168	C>R		No	ClinGen TOPMed
rs755163960 CA1951004	1168	C>Y		No	ClinGen ExAC gnomAD
rs201481590 CA1951003	1169	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1951002 rs199762750	1170	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750541696 CA1951000	1171	M>I		No	ClinGen ExAC gnomAD
RCV000593939 rs764069770 CA1950999	1173	N>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs767218250 CA1950996	1176	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA349119591 rs767218250	1176	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA349119529 rs1271662112	1181	K>E		No	ClinGen gnomAD
CA1950995 rs759204797	1181	K>R		No	ClinGen ExAC gnomAD
RCV000316075 rs143484849 CA1950994	1183	I>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA349119480 rs1324305848	1184	P>H		No	ClinGen TOPMed gnomAD
CA349119476 rs1324305848	1184	P>L		No	ClinGen TOPMed gnomAD
rs1370641207 CA349119487	1184	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA349119468 rs1443743290	1185	M>K		No	ClinGen gnomAD
CA1950992 rs772623963	1186	E>G		No	ClinGen ExAC gnomAD
CA349119442 rs1408319265	1187	R>G		No	ClinGen gnomAD
CA349119429 rs1318564461	1187	R>S		No	ClinGen TOPMed gnomAD
CA1950991 rs770299293	1189	I>M		No	ClinGen ExAC
CA349119407 rs1456787267	1189	I>T		No	ClinGen gnomAD
rs748610515 CA1950990	1190	A>T		No	ClinGen ExAC gnomAD
CA349119379 RCV000733458 rs1559176334	1191	A>D		No	ClinGen ClinVar Ensembl dbSNP
rs1168663909 CA349119384	1191	A>T		No	ClinGen gnomAD
TCGA novel	1191	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392966422 CA349119250	1199	D>G		No	ClinGen gnomAD
rs898922251 CA59870050	1202	M>T		No	ClinGen TOPMed gnomAD
rs1395775935 CA349119207	1202	M>V		No	ClinGen gnomAD
CA59870043 rs776566231	1203	S>A		No	ClinGen Ensembl
rs1468839728 CA349119144	1205	P>L		No	ClinGen gnomAD
rs1403850332 CA349119151	1205	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1243326116 CA349118451	1207	K>I		No	ClinGen TOPMed
rs1284028774 CA349118435	1208	Y>F		No	ClinGen gnomAD
CA59868581 rs940993461	1209	E>K		No	ClinGen TOPMed gnomAD
rs1320854630 CA349118421	1209	E>V		No	ClinGen gnomAD
CA59868562 RCV000731565 rs1033490064	1210	T>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs762729346 CA1950973	1211	N>D		No	ClinGen ExAC gnomAD
CA1950970 rs375288223	1212	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA349118389 rs546906441	1212	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1950971 rs546906441 RCV000732494	1212	V>I		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1950969 rs777001075	1213	G>R		No	ClinGen ExAC gnomAD
CA59868524 rs953973960	1215	Q>E		No	ClinGen TOPMed gnomAD
rs769192036 CA349118326	1216	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747352405 CA1950967	1219	L>F		No	ClinGen ExAC gnomAD
RCV000734213 rs772241929 CA1950965	1226	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA501083 rs778992761	1226	R>H		No	ClinGen ExAC TOPMed gnomAD
CA59868515 rs1031689771	1228	A>G		No	ClinGen TOPMed
CA1950961 rs780956310	1229	I>M		No	ClinGen ExAC TOPMed gnomAD
CA1950962 rs749449077	1229	I>N		No	ClinGen ExAC gnomAD
CA1950960 rs755010435	1230	A>S		No	ClinGen ExAC TOPMed gnomAD
rs766285158 CA1950959	1231	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA59868469 rs993217582	1232	A>T		No	ClinGen Ensembl
rs866839234 CA59868462	1235	R>*		No	ClinGen gnomAD
rs750033238 CA1950956	1235	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA59868442 rs377426819 RCV000734727	1236	D>Y		No	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
CA59868437 rs943116585	1240	L>F		No	ClinGen TOPMed gnomAD
rs1412013249 CA349118034	1241	L>I		No	ClinGen gnomAD
rs1064797269 RCV000488047 CA16621771	1241	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA349118022 rs1295206443	1242	L>I		No	ClinGen gnomAD
rs1454315206 CA349118005	1243	D>E		No	ClinGen gnomAD
CA1950954 rs761200259	1243	D>G		No	ClinGen ExAC gnomAD
CA1950955 rs761200259	1243	D>V		No	ClinGen ExAC gnomAD
CA59868431 rs904547404	1245	A>D		No	ClinGen TOPMed
rs776253248 CA1950953	1251	T>K		No	ClinGen ExAC gnomAD
rs1574390024 CA349117895	1252	E>A		No	ClinGen Ensembl
CA1950952 rs764536018	1255	K>N		No	ClinGen ExAC gnomAD
rs763244136 CA1950927	1256	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
RCV000392832 CA1950928 rs763244136	1256	T>R		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1467510047 CA349117442	1257	V>A		No	ClinGen gnomAD
CA1950925 rs769983873	1258	Q>*		No	ClinGen ExAC gnomAD
CA1950923 rs377043039	1259	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs377043039 CA1950924	1259	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1950922 rs772097949 RCV000597956	1260	A>P		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA349117405 rs1559173607 RCV000731307	1261	L>P		No	ClinGen ClinVar Ensembl dbSNP
CA59867831 rs972055625	1263	K>E		No	ClinGen TOPMed gnomAD
rs1206810848 CA349117366	1265	R>K		No	ClinGen gnomAD
RCV001242198 rs555881834 CA1950921	1268	R>W		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1348646270 CA349117320	1270	C>S		No	ClinGen gnomAD
CA349117308 rs1303449348	1271	I>F		No	ClinGen gnomAD
CA59867824 rs201296827	1271	I>N		No	ClinGen Ensembl
rs1211558750 CA349117301	1272	V>I		No	ClinGen TOPMed
CA59867822 rs893381496	1273	I>T		No	ClinGen Ensembl
RCV000596115 rs756792557 CA1950919	1273	I>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs753502599 CA1950918	1274	A>S		No	ClinGen ExAC TOPMed gnomAD
CA59867819 rs755385304	1276	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs777458071 CA1950917	1276	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777458071 CA349117257	1276	R>L		No	ClinGen ExAC TOPMed gnomAD
rs755385304 CA349117263	1276	R>S		No	ClinGen TOPMed gnomAD
rs200395431 CA1950916	1277	L>M		No	ClinGen ExAC TOPMed gnomAD
CA59867810 rs1001747190	1279	T>S		No	ClinGen gnomAD
rs373615768 CA1950915	1281	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA349117190 rs1200127913	1283	A>P		No	ClinGen TOPMed gnomAD
CA349117192 rs1200127913	1283	A>T		No	ClinGen TOPMed gnomAD
rs763287493 CA1950910	1284	D>G		No	ClinGen ExAC
rs766784155 CA1950911	1284	D>N		No	ClinGen ExAC gnomAD
rs766784155 CA349117183	1284	D>Y		No	ClinGen ExAC gnomAD
RCV000728346 CA1950909 rs773567525	1285	I>N		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA349117161 rs1279936025	1286	I>V		No	ClinGen gnomAD
rs1433148493 CA349117142	1288	V>I		No	ClinGen TOPMed
CA349117144 rs1433148493	1288	V>L		No	ClinGen TOPMed
rs918704206 CA59867780	1289	M>I		No	ClinGen Ensembl
CA349117108 rs1559173365	1290	A>T		No	ClinGen Ensembl
rs1553543921 RCV000592217 CA349117070	1292	G>V		No	ClinGen ClinVar Ensembl dbSNP
CA349117067 rs1256369188	1293	V>M		No	ClinGen gnomAD
CA349116984 rs1238233924	1298	G>A		No	ClinGen gnomAD
TCGA novel	1299	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA59867777 rs1036187822	1299	T>S		No	ClinGen Ensembl
CA349116953 rs1308491338	1300	H>R		No	ClinGen TOPMed gnomAD
rs1029563925 CA59867774	1300	H>Y		No	ClinGen TOPMed
CA349116937 rs1409947116	1301	E>A		No	ClinGen TOPMed gnomAD
CA1950906 rs375782077	1302	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1310645665 CA349116909	1303	L>R		No	ClinGen gnomAD
rs371501344 CA1950904	1306	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1950903 rs745821514	1307	K>*		No	ClinGen ExAC gnomAD
rs1269456376 RCV000730033	1308	G>missing		No	ClinVar dbSNP
TCGA novel	1308	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770744749 CA1950901	1311	Y>C		No	ClinGen ExAC gnomAD
CA349116777 rs1472938678	1313	L>P		No	ClinGen TOPMed gnomAD
CA1950899 rs777370489	1315	T>I		No	ClinGen ExAC gnomAD
RCV000294148 rs886043366	1316	T>missing		No	ClinVar dbSNP
CA349116740 rs1424778805	1317	G>E		No	ClinGen TOPMed
rs755810059 CA1950898	1318	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs747604184 CA1950897	1319	P>A		No	ClinGen ExAC gnomAD
CA1950896 rs780781159	1319	P>H		No	ClinGen ExAC gnomAD
CA1950894 rs752097540	1321	S>G		No	ClinGen ExAC gnomAD
CA1950893 rs201693189	1321	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1449769517 CA349116697	1322	S>R		No	ClinGen gnomAD

2 associated diseases with O95342

[MIM: 601847]: Cholestasis, progressive familial intrahepatic, 2 (PFIC2)

A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC2 inheritance is autosomal recessive. {ECO:0000269|PubMed:10579978, ECO:0000269|PubMed:11815775, ECO:0000269|PubMed:15791618, ECO:0000269|PubMed:18829893, ECO:0000269|PubMed:20010382, ECO:0000269|PubMed:24969679, ECO:0000269|PubMed:29507376, ECO:0000269|PubMed:9806540}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 605479]: Cholestasis, benign recurrent intrahepatic, 2 (BRIC2)

A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. {ECO:0000269|PubMed:15300568, ECO:0000269|PubMed:16039748, ECO:0000269|PubMed:24711118}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. PFIC2 inheritance is autosomal recessive. {ECO:0000269|PubMed:10579978, ECO:0000269|PubMed:11815775, ECO:0000269|PubMed:15791618, ECO:0000269|PubMed:18829893, ECO:0000269|PubMed:20010382, ECO:0000269|PubMed:24969679, ECO:0000269|PubMed:29507376, ECO:0000269|PubMed:9806540}. Note=The disease is caused by variants affecting the gene represented in this entry.
A disorder characterized by intermittent episodes of cholestasis without progression to liver failure. There is initial elevation of serum bile acids, followed by cholestatic jaundice which generally spontaneously resolves after periods of weeks to months. The cholestatic attacks vary in severity and duration. Patients are asymptomatic between episodes, both clinically and biochemically. {ECO:0000269|PubMed:15300568, ECO:0000269|PubMed:16039748, ECO:0000269|PubMed:24711118}. Note=The disease is caused by variants affecting the gene represented in this entry.

7 regional properties for O95342

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	420 - 656	IPR003439-1
domain	ABC transporter-like, ATP-binding domain	1078 - 1316	IPR003439-2
domain	AAA+ ATPase domain	447 - 633	IPR003593-1
domain	AAA+ ATPase domain	1105 - 1299	IPR003593-2
domain	ABC transporter type 1, transmembrane domain	63 - 385	IPR011527-1
domain	ABC transporter type 1, transmembrane domain	756 - 1043	IPR011527-2
conserved_site	ABC transporter-like, conserved site	559 - 573	IPR017871

Functions

		Description
EC Number
Subcellular Localization	Apical cell membrane ; Multi-pass membrane protein Recycling endosome membrane ; Multi-pass membrane protein Endosome Cell membrane ; Multi-pass membrane protein	Internalized at the canalicular membrane through interaction with the adapter protein complex 2 (AP-2) (PubMed:22262466) At steady state, localizes in the canalicular membrane but is also present in recycling endosomes ABCB11 constantly and rapidly exchanges between the two sites through tubulo-vesicles carriers that move along microtubules Microtubule-dependent trafficking of ABCB11 is enhanced by taurocholate and cAMP and regulated by STK11 through a PKA-mediated pathway Trafficking of newly synthesized ABCB11 through endosomal compartment to the bile canalicular membrane is accelerated by cAMP but not by taurocholate (By similarity) Cell membrane expression is up-regulated by short- and medium-chain fatty acids (PubMed:20398791)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 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.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
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.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.
intercellular canaliculus	An extremely narrow tubular channel located between adjacent cells. An instance of this is the secretory canaliculi occurring between adjacent parietal cells in the gastric mucosa of vertebrates.
intracellular canaliculus	An apical plasma membrane part that forms a narrow enfolded luminal membrane channel, lined with numerous microvilli, that appears to extend into the cytoplasm of the cell. A specialized network of intracellular canaliculi is a characteristic feature of parietal cells of the gastric mucosa in vertebrates.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
recycling endosome	An organelle consisting of a network of tubules that functions in targeting molecules, such as receptors transporters and lipids, to the plasma membrane.
recycling endosome membrane	The lipid bilayer surrounding a recycling endosome.

7 GO annotations of molecular function

Name	Definition
ABC-type bile acid transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: bile acid(in) + ATP + H2O -> bile acid(out) + ADP + phosphate.
ABC-type 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.
bile acid transmembrane transporter activity	Enables the transfer of bile acid from one side of a membrane to the other. Bile acids are any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine.
canalicular bile acid transmembrane transporter activity	The directed movement of bile acid and bile salts out of a hepatocyte and into the bile canaliculus by means of an agent such as a transporter or pore. Bile canaliculi are the thin tubes formed by hepatocyte membranes. Bile acids are any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine.
carbohydrate transmembrane transporter activity	Enables the transfer of carbohydrate from one side of a membrane to the other.

22 GO annotations of biological process

Name	Definition
bile acid and bile salt transport	The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
bile acid biosynthetic process	The chemical reactions and pathways resulting in the formation of bile acids, any of a group of steroid carboxylic acids occurring in bile.
bile acid metabolic process	The chemical reactions and pathways involving bile acids, a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine.
bile acid signaling pathway	The series of molecular signals initiated by bile acid binding to its receptor, and ending with the regulation of a downstream cellular process, e.g. transcription.
canalicular bile acid transport	Enables the transfer of bile acid from one side of a hepatocyte plasma membrane into a bile canaliculus. Bile canaliculi are the thin tubes formed by hepatocyte membranes. Bile acids are any of a group of steroid carboxylic acids occurring in bile, where they are present as the sodium salts of their amides with glycine or taurine.
cholesterol homeostasis	Any process involved in the maintenance of an internal steady state of cholesterol within an organism or cell.
fatty acid metabolic process	The chemical reactions and pathways involving fatty acids, aliphatic monocarboxylic acids liberated from naturally occurring fats and oils by hydrolysis.
lipid homeostasis	Any process involved in the maintenance of an internal steady state of lipid within an organism or cell.
phospholipid homeostasis	Any process involved in the maintenance of an internal steady state of phospholipid within an organism or cell.
positive regulation of bile acid secretion	Any process that activates or increases the frequency, rate or extent of the controlled release of bile acid from a cell or a tissue.
protein ubiquitination	The process in which one or more ubiquitin groups are added to a protein.
regulation of bile acid metabolic process	Any process that modulates the frequency, rate or extent of bile acid metabolic process.
regulation of fatty acid beta-oxidation	Any process that modulates the frequency, rate or extent of fatty acid bbeta-oxidation.
regulation of gene expression	Any process that modulates the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA).
response to 17alpha-ethynylestradiol	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 17alpha-ethynylestradiol stimulus.
response to estrogen	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 stimulus by an estrogen, C18 steroid hormones that can stimulate the development of female sexual characteristics.
response to ethanol	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 an ethanol stimulus.
response to oxidative stress	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 oxidative stress, a state often resulting from exposure to high levels of reactive oxygen species, e.g. superoxide anions, hydrogen peroxide (H2O2), and hydroxyl radicals.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.
xenobiotic export from cell	The directed movement of a xenobiotic from a cell, into the extracellular region. 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.
xenobiotic metabolic process	The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.
xenobiotic transmembrane transport	The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical.

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
P08183	ABCB1	ATP-dependent translocase ABCB1	Homo sapiens (Human)	PR
P21440	Abcb4	Phosphatidylcholine translocator ABCB4	Mus musculus (Mouse)	PR
P06795	Abcb1b	ATP-dependent translocase ABCB1	Mus musculus (Mouse)	PR
P21447	Abcb1a	ATP-dependent translocase ABCB1	Mus musculus (Mouse)	PR
Q9QY30	Abcb11	Bile salt export pump	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
Q9LJX0	ABCB19	ABC transporter B family member 19	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9ZR72	ABCB1	ABC transporter B family member 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MSDSVILRSI	KKFGEENDGF	ESDKSYNNDK	KSRLQDEKKG	DGVRVGFFQL	FRFSSSTDIW
70	80	90	100	110	120
LMFVGSLCAF	LHGIAQPGVL	LIFGTMTDVF	IDYDVELQEL	QIPGKACVNN	TIVWTNSSLN
130	140	150	160	170	180
QNMTNGTRCG	LLNIESEMIK	FASYYAGIAV	AVLITGYIQI	CFWVIAAARQ	IQKMRKFYFR
190	200	210	220	230	240
RIMRMEIGWF	DCNSVGELNT	RFSDDINKIN	DAIADQMALF	IQRMTSTICG	FLLGFFRGWK
250	260	270	280	290	300
LTLVIISVSP	LIGIGAATIG	LSVSKFTDYE	LKAYAKAGVV	ADEVISSMRT	VAAFGGEKRE
310	320	330	340	350	360
VERYEKNLVF	AQRWGIRKGI	VMGFFTGFVW	CLIFLCYALA	FWYGSTLVLD	EGEYTPGTLV
370	380	390	400	410	420
QIFLSVIVGA	LNLGNASPCL	EAFATGRAAA	TSIFETIDRK	PIIDCMSEDG	YKLDRIKGEI
430	440	450	460	470	480
EFHNVTFHYP	SRPEVKILND	LNMVIKPGEM	TALVGPSGAG	KSTALQLIQR	FYDPCEGMVT
490	500	510	520	530	540
VDGHDIRSLN	IQWLRDQIGI	VEQEPVLFST	TIAENIRYGR	EDATMEDIVQ	AAKEANAYNF
550	560	570	580	590	600
IMDLPQQFDT	LVGEGGGQMS	GGQKQRVAIA	RALIRNPKIL	LLDMATSALD	NESEAMVQEV
610	620	630	640	650	660
LSKIQHGHTI	ISVAHRLSTV	RAADTIIGFE	HGTAVERGTH	EELLERKGVY	FTLVTLQSQG
670	680	690	700	710	720
NQALNEEDIK	DATEDDMLAR	TFSRGSYQDS	LRASIRQRSK	SQLSYLVHEP	PLAVVDHKST
730	740	750	760	770	780
YEEDRKDKDI	PVQEEVEPAP	VRRILKFSAP	EWPYMLVGSV	GAAVNGTVTP	LYAFLFSQIL
790	800	810	820	830	840
GTFSIPDKEE	QRSQINGVCL	LFVAMGCVSL	FTQFLQGYAF	AKSGELLTKR	LRKFGFRAML
850	860	870	880	890	900
GQDIAWFDDL	RNSPGALTTR	LATDASQVQG	AAGSQIGMIV	NSFTNVTVAM	IIAFSFSWKL
910	920	930	940	950	960
SLVILCFFPF	LALSGATQTR	MLTGFASRDK	QALEMVGQIT	NEALSNIRTV	AGIGKERRFI
970	980	990	1000	1010	1020
EALETELEKP	FKTAIQKANI	YGFCFAFAQC	IMFIANSASY	RYGGYLISNE	GLHFSYVFRV
1030	1040	1050	1060	1070	1080
ISAVVLSATA	LGRAFSYTPS	YAKAKISAAR	FFQLLDRQPP	ISVYNTAGEK	WDNFQGKIDF
1090	1100	1110	1120	1130	1140
VDCKFTYPSR	PDSQVLNGLS	VSISPGQTLA	FVGSSGCGKS	TSIQLLERFY	DPDQGKVMID
1150	1160	1170	1180	1190	1200
GHDSKKVNVQ	FLRSNIGIVS	QEPVLFACSI	MDNIKYGDNT	KEIPMERVIA	AAKQAQLHDF
1210	1220	1230	1240	1250	1260
VMSLPEKYET	NVGSQGSQLS	RGEKQRIAIA	RAIVRDPKIL	LLDEATSALD	TESEKTVQVA
1270	1280	1290	1300	1310	1320
LDKAREGRTC	IVIAHRLSTI	QNADIIAVMA	QGVVIEKGTH	EELMAQKGAY	YKLVTTGSPI

S