AiPD: Autoinhibited Protein Database

O76090

Gene name	BEST1 (VMD2)
Protein name	Bestrophin-1
Names	TU15B , Vitelliform macular dystrophy protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:7439
EC number
Protein Class

Descriptions

Best3, a member of the bestrophin Cl- channel family, is a candidate of cGMP-sensitive, Ca2+-activated Cl- channel in vascular smooth muscle cells. Best3 has an autoinhibitory domain (356-362) and deletion of the domain robustly activates Best3 channel. <br>Best3 also has a C-terminal membrane association domain (368-383) and basic residue domain (384-397). The basic residue domain (384–397) is also partially involved in the membrane association. Dissociation of Best3 from membrane activates Best3.

Autoinhibitory domains (AIDs)

356-362 (Autoinhibitory domain) SS

Target domain	1-470 (Bestrophin)
Relief mechanism	Ligand binding
Assay

AID

356-362 (Autoinhibitory domain)

Target domain

1-470 (Bestrophin)

Relief mechanism

Ligand binding (Ca2+ binding to Best3)

Assay

Accessory elements

No accessory elements

References

Han X et al. (2013) "C-terminal membrane association of Bestrophin 3 and its activation as a chloride channel", The Journal of membrane biology, 246, 177-82

Autoinhibited structure

Activated structure

7 structures for O76090

Entry ID	Method	Resolution	Chain	Position	Source
8D1I	EM	182 A	A/B/C/D/E	1-585	PDB
8D1J	EM	205 A	A/B/C/D/E	1-585	PDB
8D1K	EM	228 A	A/B/C/D/E	1-585	PDB
8D1L	EM	212 A	A/B/C/D/E	1-585	PDB
8D1M	EM	311 A	A/B/C/D/E	1-585	PDB
8D1O	EM	244 A	A/B/C/D/E	1-345	PDB
AF-O76090-F1	Predicted				AlphaFoldDB

880 variants for O76090

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1209208472 RCV001074250 RCV001862547	2	T>S	Retinal dystrophy [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
VAR_058273	3	I>T	VMD2 [UniProt]	Yes	UniProt
rs28940275 RCV001074422 RCV001064472	6	T>A	Retinal dystrophy [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_000830 RCV000086095 CA227736 rs28940275 RCV000002851	6	T>P	Vitelliform macular dystrophy 2 VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000086098 CA227739 rs281865204 VAR_017366	6	T>R	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000086111 CA227752 rs281865205 VAR_000831	9	V>A	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs281865205 RCV000664327	9	V>G	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA227751 RCV000002855 rs28940276 RCV000086110 VAR_000832	9	V>M	Vitelliform macular dystrophy 2 VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000086118 RCV001073998 VAR_000833 CA227759 rs281865206	10	A>T	Retinal dystrophy VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA227762 RCV000086121 VAR_010468 rs281865207 RCV001002886	10	A>V	Vitelliform macular dystrophy 2 VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs281865208 VAR_017367 RCV000086127 CA227769	11	N>I	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1940692591 RCV002283522 RCV001073514	12	A>G	Retinal dystrophy Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA10603118 rs886041141 RCV001075804 RCV000311174 RCV001376382	13	R>C	Variant assessed as Somatic; MODERATE impact. Retinal dystrophy Vitelliform macular dystrophy 2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
VAR_010469 RCV001075157 COSM2038018 CA227774 rs281865209 RCV000086130	13	R>H	Variant assessed as Somatic; MODERATE impact. Retinal dystrophy VMD2 [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen NCI-TCGA Cosmic ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000086138 CA227783 VAR_010470 rs281865210	16	S>F	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA227784 VAR_010471 rs281865211 RCV000086139	17	F>C	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000787542 rs1591266379	20	L>V	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000086143 VAR_000834 rs281865212 CA227786	21	L>V	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
rs281865213 CA227816 RCV000086168 VAR_000835	24	W>C	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV001365440 rs1334381137 RCV002223306	24	W>R	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
CA227818 rs281865215 RCV000086170 VAR_000836 RCV001002887 RCV003152682	25	R>Q	Autosomal recessive bestrophinopathy Vitelliform macular dystrophy 2 VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV000086169 COSM3809776 RCV001352979 VAR_000837 rs281865214 CA227817	25	R>W	Variant assessed as Somatic; MODERATE impact. breast Vitelliform macular dystrophy 2 VMD2 [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs748684128 RCV003546612 RCV001074525	26	G>D	Retinal dystrophy [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
VAR_017368	26	G>R	VMD2 [UniProt]	Yes	UniProt
VAR_000838 RCV000086171 rs281865216 CA227819	27	S>R	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA252409 rs121918285 RCV000002849 RCV001851591	29	Y>*	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000761419 rs1565382549 RCV001228226	29	Y>C	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs281865217 VAR_017369 RCV000086175 CA227825	29	Y>H	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
CA227840 rs281865218 RCV000086188 RCV000761260 VAR_017370 RCV001073273	30	K>R	Retinal dystrophy Vitelliform macular dystrophy 2 VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1591266591 RCV000787797 RCV001338345	32	L>P	Stargardt disease [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001074809 rs994248373	33	Y>D	Retinal dystrophy [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs994248373 RCV001242037 RCV001074571	33	Y>H	Retinal dystrophy [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs2134409890 RCV002264905	35	E>D	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000356527 rs886041142 RCV003417872 CA10603253 RCV003152701	35	E>K	BEST1-related condition Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
VAR_075346	40	L>P	ARB; uncertain significance; no effect on subcellular location in transfected HEK293T cells; loss of chloride conductance [UniProt]	Yes	UniProt
RCV000002866 rs121918288 CA115728 RCV000086085 VAR_017371	41	L>P	Autosomal recessive bestrophinopathy VMD2 and ARB; no effect on subcellular location in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA6040678 RCV000287360 RCV001376914 RCV000335416 RCV000407117 rs765333778	47	R>C	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_017372 RCV000086086 COSM5050953 rs28940278 CA227724 RCV000002860	47	R>H	Variant assessed as Somatic; MODERATE impact. Vitelliform macular dystrophy 2 VMD2 [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen NCI-TCGA Cosmic ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1382219910 RCV001073429	57	E>*	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs672601356 RCV000149459 CA273043 RCV001389831	58	Q>missing	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP
rs1591280478 RCV000988567	58	Q>E	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_000839 RCV000086096 CA227737 rs281865529	58	Q>L	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001860520 VAR_010472 rs1591280714 RCV001002888	73	I>N	Vitelliform macular dystrophy 2 VMD2; abolishes membrane insertion. [ClinVar, UniProt]	Yes	ClinVar UniProt Ensembl dbSNP
RCV001103319 RCV001108500 rs1941154059 RCV001103320	77	P>T	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001959058 RCV001073510 RCV003398698 VAR_017373 RCV000086104 rs281865221 CA227745	80	F>L	BEST1-related condition Retinal dystrophy VMD2 [ClinVar, UniProt]	Yes	ClinVar Ensembl dbSNP ClinGen UniProt
RCV001075495 RCV000661905 RCV001855394 rs1555098634	81	V>M	Retinal dystrophy Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA227746 rs281865530 VAR_010473 RCV000086105	82	L>V	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_000841 rs28940274 RCV001073456 RCV000086109 CA227750 RCV000002847	85	Y>H	Retinal dystrophy Vitelliform macular dystrophy 2 VMD2; decreased chloride and bicarbonate conductance; does not affect protein homooligomerization; abolishes membrane insertion [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001851592 CA115729 RCV001074078 RCV000002867 rs121918289 VAR_058274	86	V>M	Autosomal dominant vitreoretinochoroidopathy Retinal dystrophy VRCP [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_017374	89	V>A	VMD2 [UniProt]	Yes	UniProt
CA227753 rs281865223 VAR_017375 RCV000086112	91	T>I	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
CA227755 rs281865224 RCV000086114 VAR_010474	92	R>C	VMD2; loss of cloride and bicarbonate conductance; does not affect protein homooligomerization [UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000086115 CA227756 rs281865225 VAR_010475	92	R>H	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs281865225 RCV000625593 CA380834030	92	R>L	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA227754 rs281865224 RCV000086113 VAR_000842	92	R>S	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV000002846 VAR_000843 rs28940273 RCV000086116 CA227757	93	W>C	Vitelliform macular dystrophy 2 VMD2; no effect on subcellular location in transfected HEK293T cells; loss of cloride and bicarbonate conductance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
RCV001591903 rs2134430116	95	N>Y	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001268202 rs1555099048 CA645509455 RCV000505128	96	Q>missing	Retinitis pigmentosa [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV001208692 RCV001073993 rs980876322	96	Q>E	Retinal dystrophy [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
CA227758 VAR_010476 RCV000086117 rs281865226	96	Q>H	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV003558595 RCV000787538 rs1225032182 RCV000787537	96	Q>R	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001002889 rs1591283793 RCV001860521	98	E>D	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1591283811 RCV000787539	99	N>H	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs281865227 CA227760 RCV000086119 VAR_000844	99	N>K	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV000086120 VAR_000845 CA227761 rs281865228	100	L>R	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001103323 rs374517178 RCV001856401 RCV001103322 RCV001103321	101	P>L	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar ESP TOPMed dbSNP gnomAD
rs281865229 CA227763 VAR_017376 RCV000086122	101	P>T	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
RCV000086123 VAR_017377 rs281865230 CA227764	102	W>R	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_000846 rs281865232 CA227766 RCV000086125	104	D>E	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000086124 VAR_017378 rs281865231 CA227765	104	D>H	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001199219 rs281865273	105	R>G	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000721106 rs1565388478	108	S>R	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1445469923 VAR_025732	113	F>L	VMD2 [UniProt]	Yes	TOPMed gnomAD UniProt dbSNP
CA227772 RCV000002856 VAR_010477 RCV000086129 rs1805142	119	E>Q	Vitelliform macular dystrophy 2 a sporadic case of concentric annular macular dystrophy and VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs767103810 RCV002222859	122	R>P	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV001236697 RCV003393904 RCV001352945 rs750102662	130	R>S	BEST1-related condition Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
CA227775 RCV000086131 VAR_017379 rs281865233	133	N>K	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
CA6040750 RCV001060439 RCV000491340 rs753614067	134	L>V	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1159966472 RCV001340927 RCV001002890	135	G>D	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
CA227776 VAR_010478 RCV000086132 rs281865234	135	G>S	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA227777 VAR_017380 rs281865235 RCV000086133	140	L>R	VMD2; abolishes membrane insertion [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA252412 RCV000726591 RCV000002875 VAR_063169 RCV000787540 rs267606678	140	L>V	Retinitis pigmentosa 50 Retinal dystrophy Retinitis pigmentosa 50 (rp50) RP50 and ARB; possible decrease in protein stability; causes protein mislocalization to the cytoplasm and reduction of channel activity [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
VAR_000847 RCV000002863 RCV000292546 RCV003421897 RCV000086135 rs121918284 RCV000787541 RCV001075875 RCV000375283 CA115724 RCV000002862	141	R>H	BEST1-related condition Autosomal dominant vitreoretinochoroidopathy Autosomal recessive bestrophinopathy Stargardt disease Retinitis Pigmentosa, Recessive Retinal dystrophy Vitelliform macular dystrophy 2 VMD2 and ARB; no effect on subcellular location in induced pluripotent stem cell-derived retinal pigment epithelial cells; loss of cell membrane localization in transfected MDCK.2 cells; possible decrease in protein stability; reduced chloride conductance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000086134 rs281865236 CA227778 RCV001075881	141	R>S	Retinal dystrophy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1591284563 RCV001029842	142	S>missing	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinVar dbSNP
RCV001780238 rs1378679988 RCV001295730	143	V>L	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
CA227780 RCV000086136 rs1800995 VAR_010479 RCV000002857	146	A>K	Vitelliform macular dystrophy 2 VMD2; sporadic; requires 2 nucleotide substitutions [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001329185 rs1177798663	150	R>G	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinVar dbSNP gnomAD
RCV001074520 rs1249897117 RCV001233671	150	R>P	Retinal dystrophy [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV001885426 VAR_043493 rs1417478879	152	P>A	ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced whole-cell conductance [UniProt]	Yes	ClinVar UniProt TOPMed dbSNP gnomAD
RCV001073430 rs1360056203	177	P>L	Retinal dystrophy [ClinVar]	Yes	ClinVar dbSNP gnomAD
rs1555099968 RCV000664326	179	N>D	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001863118 RCV002283525 RCV001197771 rs775979290	179	N>missing	Autosomal recessive bestrophinopathy Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001073960 rs1941427913	180	M>T	Retinal dystrophy [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000721115 rs1565390925	182	W>R	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001075852 RCV002555920 rs1941429437	187	W>G	Retinal dystrophy [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000678528 VAR_017381 RCV002477254 rs200277476 RCV000086140 RCV000490256 RCV002247491 CA227785	195	A>V	Autosomal recessive bestrophinopathy Retinal dystrophy Vitelliform macular dystrophy 2 ARB and VMD2; no effect on subcellular location in transfected MDCK.2 and HEK293T cells; possible decrease in protein stability; reduced chloride conductance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001202565 rs121918286 CA115725 RCV002490299 RCV000002864	200	R>*	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000086141 CA199155 rs199529046 RCV000344091 RCV000408002 RCV001376213 RCV000169651 RCV000312619 VAR_025733	201	I>T	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa BEST1-Related Disorders Autosomal recessive bestrophinopathy Vitelliform macular dystrophy 2 VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV000256001 VAR_075347 rs765998048 CA6040780	202	R>W	ARB; possible decrease in protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance [UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs267606680 RCV001382239 RCV000002870 VAR_063170 CA252411	205	I>T	Retinitis pigmentosa 50 Retinitis pigmentosa 50 (rp50) RP50; reduced channel activity [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_025734 CA179809 RCV000086142 RCV000354425 rs74653691 RCV000324183 RCV000152864 RCV000259515 RCV002498462	207	L>I	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Autosomal recessive bestrophinopathy Vitelliform macular dystrophy 2 VMD2; benign [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_000848 CA227789 rs281865237 RCV000086145	209	S>N	VMD2; uncertain significance [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001352993 RCV001301740 rs748685592 RCV001376459	213	E>G	Autosomal recessive bestrophinopathy Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000086150 CA227795 RCV000787543 RCV001073491 COSM1676091 rs281865238 COSM1676090 VAR_000849 RCV000763263	218	R>C	large_intestine Autosomal recessive bestrophinopathy Retinal dystrophy Vitelliform macular dystrophy 2 VMD2 [Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt TOPMed dbSNP
VAR_010481 RCV000787544 rs281865239 COSM3687773 CA227796 RCV000086151 RCV001002892 COSM3687772	218	R>H	Variant assessed as Somatic; MODERATE impact. large_intestine Vitelliform macular dystrophy 2 VMD2 [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
VAR_000850	218	R>Q	VMD2 [UniProt]	Yes	UniProt
RCV002468566 CA227794 rs281865238 RCV000086149 VAR_000851	218	R>S	Vitelliform macular dystrophy 2 VMD2; does not affect protein homooligomerization; inhibits chloride channel activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
CA6040815 rs775283269 RCV000478999 RCV000625550	220	Q>*	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs281865240 CA227799 RCV000086153 VAR_025735	221	C>W	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA227800 RCV000086154 RCV001002893 rs281865241 VAR_025736	222	G>V	Vitelliform macular dystrophy 2 a family affected by Leber congenital amaurosis/VMD2 and VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA227802 rs281865242 RCV000086155 VAR_000852	224	L>M	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000086156 rs281865243 VAR_025737 CA227803	224	L>P	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000002873 VAR_000853 rs267606677 CA115733 RCV000086158 RCV000002874	227	Y>C	Retinitis pigmentosa 50 Retinitis pigmentosa 50 (rp50) Vitelliform macular dystrophy 2 RP50 and VMD2 [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_000854 rs28941469 RCV000086157 RCV000002850 CA227804 RCV001073354	227	Y>N	Retinal dystrophy Vitelliform macular dystrophy 2 VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000625591 RCV001268363 CA380838768 rs1431752515	228	D>E	Variant assessed as Somatic; MODERATE impact. Autosomal recessive bestrophinopathy [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV001057415 rs267606676 RCV002250720	228	D>H	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa (rp) Retinitis pigmentosa 50 (rp50) [ClinVar, Ensembl]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000787545 CA115732 RCV000002871 RCV001073474 VAR_063171 RCV000417725 rs267606676	228	D>N	Retinitis pigmentosa Retinitis pigmentosa 50 Retinal dystrophy Retinitis pigmentosa (rp) Retinitis pigmentosa 50 (rp50) RP50; causes protein mislocalization to the cytoplasm [ClinVar, Ensembl, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs281865244 CA227805 RCV001073253 RCV001268713 VAR_000855 RCV000086159	231	S>R	Retinal dystrophy VMD2 [ClinVar, UniProt]	Yes	ClinVar Ensembl dbSNP ClinGen UniProt
RCV000735775 rs1565392261	232	I>S	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000002876 COSM1355293 rs267606679 COSM1355292 CA115734	235	V>A	Autosomal dominant vitreoretinochoroidopathy Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
rs281865245 RCV000086162 VAR_010482 CA227809 RCV001090321	235	V>L	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs281865245 CA227808 RCV000086161 VAR_000856	235	V>M	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000002869 VAR_058275 RCV003555902 rs121918291 CA115731	236	Y>C	Autosomal dominant vitreoretinochoroidopathy VRCP [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs281865246 RCV000086163 CA227810 VAR_000857	237	T>R	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000513216 rs1555100476 RCV001199444 CA658653799	238	Q>missing	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP
VAR_058276 RCV000002868 rs121918290 CA115730 RCV002054410	239	V>M	Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2 VRCP [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP
VAR_025738 rs281865247 RCV000086165 CA227813	241	T>N	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_058277	242	V>M	VMD2; late-onset of visual disturbance [UniProt]	Yes	UniProt
VAR_025739 CA227814 rs137853905 RCV000086166 RCV001074234	243	A>T	Retinal dystrophy VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV003326112 RCV000002858 RCV003448243 VAR_000858 rs28940570 CA227815 RCV001075633 RCV000086167	243	A>V	Vitelliform macular dystrophy 1 Autosomal dominant vitreoretinochoroidopathy Variant assessed as Somatic; MODERATE impact. Retinal dystrophy Vitelliform macular dystrophy 2 VMD2 [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs2134444981 RCV002249296	246	S>N	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs372989281 RCV002478405 CA270085 RCV000132651 RCV001781480	255	R>W	Retinitis pigmentosa Variant assessed as Somatic; MODERATE impact. Autosomal recessive bestrophinopathy [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1308281595 RCV003230778 RCV003221775	271	L>I	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV003708559 rs536333519 RCV001073528	272	V>A	Retinal dystrophy [ClinVar]	Yes	ClinVar 1000Genomes ExAC dbSNP gnomAD
rs62639270 RCV001055473 RCV003396686	274	P>R	BEST1-related condition [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs281865248 CA227822 RCV001270359 VAR_025741 RCV000086173	276	F>L	Vitelliform macular dystrophy 2 VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_088972	281	F>del	VMD2; abolishes membrane insertion [UniProt]	Yes	UniProt
rs727503824 CA233532 RCV001262506 RCV001270355 RCV000723944	284	Y>C	Stargardt disease Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001199442 rs727503824	284	Y>F	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV003401972 RCV001949354 rs753334817	287	W>*	BEST1-related condition [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1474961573 RCV001950705 RCV002250787	287	W>C	Retinitis pigmentosa 50 [ClinVar]	Yes	ClinVar dbSNP gnomAD
CA380843621 rs886039311 RCV000655874	292	E>Q	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA227826 VAR_010483 RCV000086176 rs281865250	293	Q>K	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_025742 RCV000086178 CA227829 rs281865251	294	L>V	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000086179 CA227830 rs121918283 RCV000002854	295	I>missing	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP
CA227832 rs281865253 RCV000086180 VAR_025743	295	I>T	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_000859	295	I>del	VMD2 [UniProt]	Yes	UniProt
VAR_025744 rs281865254	296	N>H	VMD2 [UniProt]	Yes	UniProt Ensembl dbSNP
RCV000658594 rs1554963058 RCV000754762	296	N>K	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001002895 RCV000086182 rs281865255 RCV000787546 VAR_010484 CA227834	296	N>S	Vitelliform macular dystrophy 2 VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_000860 rs1805143	297	P>A	VMD2 [UniProt]	Yes	UniProt ExAC dbSNP gnomAD
rs1805143 VAR_010485	297	P>S	VMD2 [UniProt]	Yes	UniProt ExAC dbSNP gnomAD
rs281865257 VAR_025745	298	F>S	VMD2 [UniProt]	Yes	UniProt Ensembl dbSNP
VAR_058313	299	G>A	VMD2 [UniProt]	Yes	UniProt
RCV000086186 rs28941468 RCV000002848 VAR_000861 CA227838	299	G>E	Vitelliform macular dystrophy 2 VMD2; does not affect protein homooligomerization; inhibits chloride channel activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA227841 RCV000086189 RCV001074846 rs1805144 VAR_010486	300	E>D	Retinal dystrophy VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
VAR_000862 rs281865258	300	E>K	VMD2 [UniProt]	Yes	UniProt Ensembl dbSNP
CA227845 RCV000086192 VAR_000863 rs281865261 RCV001075792	301	D>E	Retinal dystrophy VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs281865259 VAR_000864	301	D>N	VMD2 [UniProt]	Yes	UniProt Ensembl dbSNP
RCV003558596 RCV000787548 rs281865263	302	D>A	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_025746 CA227847 rs281865263 RCV000086194	302	D>G	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA227846 rs281865262 RCV000086193 COSM3450823 VAR_025747 COSM3450824	302	D>H	Variant assessed as Somatic; MODERATE impact. VMD2 [NCI-TCGA, UniProt]	Yes	ClinGen NCI-TCGA Cosmic ClinVar UniProt Ensembl NCI-TCGA dbSNP
RCV000787547 rs281865262	302	D>N	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs281865263 CA227848 VAR_025748 RCV000086195	302	D>V	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_058278	302	D>del	VMD2 [UniProt]	Yes	UniProt
VAR_025749 CA227849 RCV000086196 rs281865264	303	D>E	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV001002896 rs1591301548	303	D>V	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
rs1941816094 RCV001352947	303	D>Y	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV000590969 CA380843918 rs1554963095	304	D>N	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1565036465 RCV000761261	305	F>L	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_000865 rs281865265	305	F>S	VMD2 [UniProt]	Yes	UniProt Ensembl dbSNP
VAR_025750 RCV000086199 rs281865267 CA227852	306	E>D	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA227851 VAR_025751 RCV000086198 rs281865266	306	E>G	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_025752 rs281865268	307	T>A	VMD2 [UniProt]	Yes	UniProt TOPMed dbSNP
CA227854 RCV001073777 RCV000086201 VAR_010487 rs281865269	307	T>I	Retinal dystrophy VMD2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_025753 rs281865270 RCV000086202 CA227855	308	N>S	VMD2 [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs281865271 VAR_000866	310	I>T	VMD2 [UniProt]	Yes	UniProt Ensembl dbSNP
VAR_000867 rs1941820458	311	V>G	VMD2 [UniProt]	Yes	gnomAD UniProt
RCV000787549 rs748351421 RCV002536889	312	D>E	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
VAR_000868 rs281865277	312	D>N	VMD2 and ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance [UniProt]	Yes	UniProt ESP ExAC TOPMed dbSNP gnomAD
rs121918287 RCV002225182	317	V>L	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinVar Ensembl dbSNP
VAR_043494 rs121918287	317	V>M	ARB; no effect on protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance [UniProt]	Yes	UniProt Ensembl dbSNP
COSM467106 CA380846047 rs1554963305 RCV000625673	319	L>P	kidney Variant assessed as Somatic; MODERATE impact. Autosomal recessive bestrophinopathy [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP
RCV001196866 rs1941875734	323	D>E	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
RCV001376381 rs752756768	323	D>V	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar ExAC dbSNP gnomAD
RCV002550237 RCV001376460 rs368387447 VAR_043495	325	M>T	Vitelliform macular dystrophy 2 ARB; possible decrease in protein stability; loss of cell membrane localization in transfected MDCK.2 cells; reduced chloride conductance [ClinVar, UniProt]	Yes	ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
rs201386186 RCV003414002 RCV001209582	331	R>Q	BEST1-related condition [ClinVar]	Yes	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001075322 rs1265837064	354	F>L	Retinal dystrophy [ClinVar]	Yes	ClinVar TOPMed dbSNP
RCV000328299 RCV000364308 RCV000273316 RCV001238318 rs368356148 RCV000406541 RCV001106451 CA6040975	355	R>H	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Retinitis Pigmentosa, Recessive Iron Overload Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001873507 RCV001106453 rs751707411 RCV001106454 RCV001106452	356	R>L	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV000850038 CA6040977 RCV000425735 rs751707411	356	R>Q	Cone-rod dystrophy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000269600 RCV000333972 RCV000885201 VAR_043496 RCV001106455 CA6040979 rs17854138 RCV000388625 RCV000300553	357	A>V	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Retinitis Pigmentosa, Recessive Iron Overload Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA10639483 RCV000335458 rs886048427 RCV000280429 RCV000400200	386	H>P	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs375618932 RCV002111868 RCV003395388	390	I>T	BEST1-related condition [ClinVar]	Yes	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001229469 rs762903676 RCV001074521	392	R>C	Retinal dystrophy [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001103497 RCV001103495 RCV001103496 rs779855350 RCV001222594	423	E>K	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
rs1942169028 RCV001199443 RCV001090322	439	Q>*	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar Ensembl dbSNP
CA6041039 rs765604572 RCV000341403 RCV000286534 RCV000392912	444	A>T	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA380848684 rs1554964287 RCV000625654	457	P>R	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs752125512 RCV001380021 RCV000779068	472	L>missing	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
rs933520843 RCV003161175 RCV002009445	476	P>S	Inborn genetic diseases [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
rs759410076 RCV001388531 RCV002290633 RCV001198877	482	E>missing	Autosomal dominant vitreoretinochoroidopathy Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001864092 RCV002547961 rs867577834	485	A>V	Inborn genetic diseases [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
CA10638867 RCV000277533 RCV000307830 RCV000362560 rs886048428	486	P>L	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Variant assessed as Somatic; MODERATE impact. Vitelliform macular dystrophy 2 [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000086087 rs281865528 RCV003152665 CA227725 RCV000002861 RCV001074224	490	H>missing	Autosomal recessive bestrophinopathy Retinal dystrophy Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV000263285 RCV000311168 rs111326315 CA200718 RCV001105411 RCV000332568 RCV000368515 RCV000970229 RCV000173796	492	V>I	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Retinitis Pigmentosa, Recessive Iron Overload Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000606825 CA6041070 rs752521456 RCV001237913	505	V>missing	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP
RCV001106556 RCV000373030 RCV000318463 rs141071579 RCV000278563 RCV000370478 CA6041073 RCV000994642	507	S>P	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Retinitis Pigmentosa, Recessive Iron Overload Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002476479 rs1199787091 RCV001317514	511	K>R	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinVar TOPMed dbSNP gnomAD
RCV003130151 RCV001074522 rs762398929	517	S>*	Retinal dystrophy [ClinVar]	Yes	ClinVar ExAC TOPMed dbSNP gnomAD
RCV002272465 rs370835731 RCV001381091	518	E>*	Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV003389499 rs1389863115 RCV001780683	526	H>P*	Stargardt disease [ClinVar]	Yes	ClinVar dbSNP
RCV000289865 RCV000339359 RCV000384296 CA10638870 rs757181644	528	E>G	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001075759 rs1942208203	538	E>*	Retinal dystrophy [ClinVar]	Yes	ClinVar TOPMed dbSNP
rs1942209287 RCV002002203 RCV002272537	541	L>missing	Autosomal recessive bestrophinopathy [ClinVar]	Yes	ClinVar dbSNP
VAR_010489 RCV000362495 RCV000350824 RCV000311148 rs147192139 RCV000408253 RCV001108733 RCV000086092 CA227730	557	E>K	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Retinitis Pigmentosa, Recessive Iron Overload Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001103573 CA227732 RCV001103574 rs281865283 RCV001103572 RCV000086093 VAR_010490	561	T>A	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Vitelliform macular dystrophy 2 [ClinVar]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_010491 rs148060787 RCV000086094 RCV000272476 CA227734 RCV000357304 RCV001103575 RCV000262526 RCV000298984	567	L>F	Autosomal dominant vitreoretinochoroidopathy Retinitis pigmentosa Retinitis Pigmentosa, Recessive Vitelliform macular dystrophy 2 Iron Overload a sporadic case of age-related macular degeneration; uncertain significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs907161461 RCV002025569	3	I>N		No	ClinVar TOPMed dbSNP
rs368383940 RCV001090318	4	T>I		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs368383940	4	T>N		No	ESP ExAC TOPMed gnomAD
rs199508634 RCV001209187	7	S>N		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1350856823	8	Q>*		No	TOPMed gnomAD
rs28940276 RCV001922643	9	V>L		No	ClinVar Ensembl dbSNP
RCV000497774 rs281865531 CA380831152	11	N>K		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs281865208 RCV001983998	11	N>S		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs886041141 RCV001199441 CA380831194 RCV000513111	13	R>G		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA16621619 rs281865209 RCV000487671	13	R>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs766379510	15	G>A		No	ExAC gnomAD
RCV000494235 rs766379510 CA380831276	15	G>D		No	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001297133 rs281865210	16	S>Y		No	ClinVar Ensembl dbSNP
rs2134409356 RCV001977697	17	F>missing		No	ClinVar dbSNP
RCV001241890 rs1940696088	17	F>I		No	ClinVar Ensembl dbSNP
rs1940696725 RCV001760875	17	F>L		No	ClinVar dbSNP gnomAD
RCV001090319 rs281865211	17	F>Y		No	ClinVar Ensembl dbSNP
rs755109384	18	S>P		No	ExAC gnomAD
RCV000595056 CA6040665 rs765385264 COSM294166	19	R>C	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs752923595 RCV002006249	19	R>H		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs765385264	19	R>S		No	ExAC TOPMed gnomAD
rs758726044	21	L>P		No	ExAC gnomAD
RCV001976261 rs758726044	21	L>Q		No	ClinVar ExAC dbSNP gnomAD
rs281865213 RCV001381873	24	W>*		No	ClinVar TOPMed dbSNP gnomAD
rs1402176267	24	W>*		No	gnomAD
rs281865214	25	R>G		No	ExAC TOPMed gnomAD
rs748684128	26	G>A		No	ExAC gnomAD
rs2134409637 RCV001980556	26	G>S		No	ClinVar Ensembl dbSNP
rs2134409684 RCV001990454	27	S>G		No	ClinVar Ensembl dbSNP
rs1301396112 RCV001971243	27	S>N		No	ClinVar dbSNP gnomAD
rs1940703696	31	L>V		No	TOPMed
rs1192923897	34	G>D		No	gnomAD
rs1479800797	34	G>S		No	gnomAD
rs772850879	36	F>I		No	ExAC gnomAD
rs955214914	36	F>L		No	Ensembl
rs1800007	37	L>I		No	1000Genomes ESP ExAC TOPMed gnomAD
rs2134409956 RCV001911840	37	L>P		No	ClinVar Ensembl dbSNP
rs1290876075	37	L>S		No	TOPMed
rs1800007	37	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV000479652 rs1064796849 CA16619353	38	I>S		No	ClinGen ClinVar Ensembl dbSNP
rs1211789024	39	F>L		No	TOPMed gnomAD
rs1018427385 COSM3727942	39	F>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated Ensembl
rs1940710030	40	L>V		No	TOPMed gnomAD
rs2134410058 RCV002035366	41	L>missing		No	ClinVar dbSNP
rs776643603	41	L>F		No	ExAC gnomAD
rs1940711760	45	I>V		No	TOPMed gnomAD
rs989919477 RCV002041831	46	I>T		No	ClinVar TOPMed dbSNP
rs28940278	47	R>L		No	ExAC TOPMed gnomAD
rs28940278	47	R>P		No	ExAC TOPMed gnomAD
rs1281909410	48	F>L		No	TOPMed gnomAD
rs1281909410	48	F>V		No	TOPMed gnomAD
rs1406033170	49	I>T		No	gnomAD
rs914504094 RCV002034996	51	R>K		No	ClinVar dbSNP gnomAD
rs751807541	51	R>S		No	ExAC gnomAD
rs762040678	52	L>M		No	ExAC gnomAD
rs925342184	52	L>P		No	gnomAD
rs925342184	52	L>Q		No	gnomAD
rs1360586108	54	L>P		No	gnomAD
rs756657082 RCV002042563	55	T>M		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1318209144	55	T>P		No	gnomAD
rs1285188919	56	E>A		No	TOPMed gnomAD
rs200235532 RCV001897512	57	E>D		No	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001372403 rs1221728254	59	Q>missing		No	ClinVar dbSNP
rs1941144580	59	Q>L		No	gnomAD
rs1941145120 RCV001268763	61	M>missing		No	ClinVar dbSNP
rs757939429	61	M>I		No	ExAC gnomAD
rs1311825235	61	M>L		No	gnomAD
rs1201722852	63	E>K		No	TOPMed
COSM4834244 COSM4834245	63	E>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
RCV001380310 rs2134425489	64	K>*		No	ClinVar Ensembl dbSNP
rs1941146367	64	K>N		No	gnomAD
rs537136106	65	L>P		No	1000Genomes ExAC gnomAD
TCGA novel	65	L>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs2134425543	66	T>A		No	Ensembl
rs1941147176	66	T>I		No	gnomAD
rs780945143	67	L>P		No	ExAC TOPMed gnomAD
VAR_000840	67	L>V		No	UniProt
rs62641692	69	C>*		No	ExAC gnomAD
rs62641692	69	C>W		No	ExAC gnomAD
rs769721970	69	C>Y		No	ExAC gnomAD
rs749295558	70	D>G		No	ExAC gnomAD
rs1380567391	70	D>N		No	gnomAD
rs2134425715 RCV001957106	72	Y>C		No	ClinVar Ensembl dbSNP
rs1941150173 RCV001039127	72	Y>D		No	ClinVar Ensembl dbSNP
CA227741 RCV000086101 rs281865220	73	I>L		No	ClinGen ClinVar Ensembl dbSNP
rs1109748	73	I>M		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1941151886	74	Q>*		No	Ensembl
rs762070687	74	Q>R		No	ExAC TOPMed gnomAD
rs1335203485	75	L>F		No	gnomAD
RCV001902555 rs2134425822	75	L>P		No	ClinVar Ensembl dbSNP
RCV001044911 rs1941153466	76	I>F		No	ClinVar Ensembl dbSNP
RCV002015333 rs2134425906	78	I>T		No	ClinVar Ensembl dbSNP
rs1333592387	78	I>V		No	TOPMed gnomAD
RCV000486180 rs1064793051 CA16619354	80	F>I		No	ClinGen ClinVar Ensembl dbSNP
RCV002042843 RCV001367254 rs1555098634	81	V>L		No	ClinVar Ensembl dbSNP
rs376823393	83	G>S		No	ESP TOPMed gnomAD
RCV002005547 rs2134429825	86	V>A		No	ClinVar Ensembl dbSNP
RCV001969004 rs2134429825	86	V>E		No	ClinVar Ensembl dbSNP
rs1941250172	89	V>I		No	Ensembl
rs1343490048	90	V>L		No	gnomAD
RCV001041754 rs1343490048	90	V>M		No	ClinVar dbSNP gnomAD
rs281865223	91	T>N		No	ExAC gnomAD
rs28940273	93	W>*		No	ExAC gnomAD
rs2134430043 RCV001977130	93	W>L		No	ClinVar Ensembl dbSNP
rs1941252350 RCV001268792	93	W>R		No	ClinVar Ensembl dbSNP
rs1255521187	94	W>C		No	TOPMed gnomAD
rs1941252971	94	W>G		No	TOPMed gnomAD
RCV001036747 rs369484820	97	Y>C		No	ClinVar ESP TOPMed dbSNP gnomAD
RCV001368587 rs2134430191	98	E>K		No	ClinVar Ensembl dbSNP
RCV000487977 rs281865228 CA16621620	100	L>P		No	ClinGen ClinVar Ensembl dbSNP
rs374517178 RCV001090320	101	P>R		No	ClinVar ESP TOPMed dbSNP gnomAD
rs281865229	101	P>S		No	TOPMed
rs2134430353	102	W>*		No	Ensembl
rs1288978712	103	P>A		No	gnomAD
rs1288978712	103	P>S		No	gnomAD
RCV000086126 VAR_025731 rs281865273 CA227767	105	R>C	age-related macular degeneration [UniProt]	No	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV002025371 rs281865273	105	R>S		No	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001319683 rs1818911095	106	L>F		No	ClinVar TOPMed dbSNP
rs1941260323 RCV001975358	107	M>I		No	ClinVar TOPMed dbSNP
rs1941260019	107	M>T		No	TOPMed
rs1263090423	107	M>V		No	gnomAD
rs2134430499	108	S>N		No	1000Genomes
rs1941260986 RCV001345398	109	L>P		No	ClinVar Ensembl dbSNP
rs777230601	111	S>*		No	ExAC gnomAD
rs777230601	111	S>L		No	ExAC gnomAD
RCV001009213 rs1591284015	112	G>missing		No	ClinVar dbSNP
rs370284244 RCV002005568	112	G>S		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1941262540	112	G>V		No	TOPMed
RCV001892848 rs2134430632	114	V>L		No	ClinVar Ensembl dbSNP
TCGA novel	115	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1941264207	116	G>D		No	gnomAD
rs1450047645	116	G>S		No	TOPMed
rs1363775450	117	K>R		No	gnomAD
rs1400987360 RCV001883355	118	D>N		No	ClinVar TOPMed dbSNP
rs1400987360	118	D>Y		No	TOPMed
rs1805142	119	E>*		No	ESP ExAC TOPMed gnomAD
rs756778385	120	Q>H		No	ExAC TOPMed gnomAD
rs1384192451	120	Q>K		No	gnomAD
rs1314618706	121	G>A		No	TOPMed gnomAD
rs1941266863	121	G>S		No	TOPMed
rs767103810	122	R>L		No	ExAC gnomAD
rs767103810	122	R>Q		No	ExAC gnomAD
rs886622502	122	R>W		No	TOPMed gnomAD
RCV001910816 rs2134430916	124	L>Q		No	ClinVar Ensembl dbSNP
rs1941269361	125	R>W		No	gnomAD
rs1216761401	126	R>C		No	gnomAD
rs1941269905	126	R>L		No	TOPMed
rs1941270968 RCV001341928	129	I>L		No	ClinVar Ensembl dbSNP
rs750102662	130	R>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ExAC NCI-TCGA TOPMed gnomAD
rs1941272148	131	Y>C		No	TOPMed
TCGA novel RCV001340265 rs1941271894	131	Y>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar NCI-TCGA Ensembl dbSNP
RCV000513521 CA6040748 rs755851136	133	N>H		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs779799704	133	N>I		No	ExAC TOPMed gnomAD
RCV001902491 rs779799704	133	N>S		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1451564462 RCV000512800 CA380835128	137	V>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1363093613 RCV001340269	137	V>M		No	ClinVar dbSNP gnomAD
rs1354994933	138	L>R		No	TOPMed gnomAD
rs1304576315	139	I>T		No	gnomAD
rs1462453860	142	S>G		No	Ensembl
rs1334264356	142	S>N		No	gnomAD
rs1378679988 RCV001994660	143	V>F		No	ClinVar TOPMed dbSNP gnomAD
rs1378679988 COSM1355291 COSM1355290	143	V>I	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD
rs1305677238	144	S>R		No	gnomAD
rs778771960	144	S>T		No	ExAC gnomAD
rs781293254	145	T>I		No	TOPMed gnomAD
TCGA novel	145	T>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1258356666	146	A>E		No	gnomAD
rs1237501081 RCV002006998	146	A>S		No	ClinVar dbSNP gnomAD
RCV001957444 rs1237501081	146	A>T		No	ClinVar dbSNP gnomAD
TCGA novel	147	V>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
RCV001341655 rs760471818	148	Y>F		No	ClinVar ExAC TOPMed dbSNP gnomAD
CA227781 RCV000086137 rs281865274	149	K>*		No	ClinGen ClinVar Ensembl dbSNP
rs1025207883	149	K>R		No	gnomAD
rs1025207883	149	K>T		No	gnomAD
TCGA novel	150	R>A	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1177798663 RCV001865016	150	R>C		No	ClinVar dbSNP gnomAD
RCV001237145 rs1249897117	150	R>H		No	ClinVar TOPMed dbSNP gnomAD
RCV001207586 rs1177798663	150	R>S		No	ClinVar dbSNP gnomAD
rs2134431638	151	F>C		No	Ensembl
rs1178108551	153	S>R		No	gnomAD
rs1429969561	154	A>S		No	gnomAD
rs1469052269	157	L>V		No	TOPMed gnomAD
rs1174029281 RCV001956479	159	Q>*		No	ClinVar dbSNP gnomAD
rs1941286993	160	A>P		No	Ensembl
TCGA novel	161	G>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
rs1401937878	161	G>S		No	gnomAD
rs1941422043	162	F>I		No	Ensembl
rs1378101308	163	M>I		No	TOPMed
rs1422259821 RCV001310598	165	P>L		No	ClinVar TOPMed dbSNP gnomAD
rs1422259821	165	P>Q		No	TOPMed gnomAD
rs753652930	165	P>T		No	ExAC gnomAD
rs1941423831	166	A>T		No	TOPMed gnomAD
rs1941424099	167	E>K		No	gnomAD
RCV002021210 rs2134437023	169	K>R		No	ClinVar Ensembl dbSNP
rs186544610	170	Q>*		No	1000Genomes ExAC gnomAD
rs752607915	172	E>G		No	ExAC gnomAD
rs1941424670	172	E>K		No	TOPMed
rs1941425177 RCV001034904	174	L>P		No	ClinVar Ensembl dbSNP
rs1269979872	175	S>R		No	gnomAD
rs758504759	179	N>K		No	ExAC TOPMed gnomAD
rs1204576172	180	M>I		No	Ensembl
rs1358778905	180	M>L		No	TOPMed gnomAD
rs1358778905	180	M>V		No	TOPMed gnomAD
rs777978717	182	W>*		No	ExAC gnomAD
rs777978717	182	W>C		No	ExAC gnomAD
rs1288012449	186	V>M		No	gnomAD
rs771276800	188	F>L		No	ExAC TOPMed gnomAD
TCGA novel	189	A>C	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
COSM1585859 COSM929546	190	N>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1214738488	190	N>K		No	gnomAD
rs1941430047	190	N>S		No	Ensembl
rs1484152128 RCV002025760	191	L>P		No	ClinVar dbSNP gnomAD
rs1240132411	191	L>V		No	gnomAD
rs1384280477	193	M>K		No	TOPMed gnomAD
rs1384280477	193	M>T		No	TOPMed gnomAD
rs532866226	193	M>V		No	1000Genomes ExAC TOPMed gnomAD
RCV001381088 rs2134437355	194	K>H*		No	ClinVar dbSNP
rs1941433498	196	W>C		No	Ensembl
rs2134437464 RCV001963990	197	L>I		No	ClinVar Ensembl dbSNP
rs1941433993	198	G>E		No	Ensembl
rs1941433718	198	G>R		No	gnomAD
TCGA novel	199	G>C	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
RCV001227806 rs1941434511	199	G>D		No	ClinVar Ensembl dbSNP
rs769188077	200	R>P		No	ExAC TOPMed gnomAD
rs769188077	200	R>Q		No	ExAC TOPMed gnomAD
rs199529046	201	I>S		No	ESP ExAC TOPMed gnomAD
rs1343797793	201	I>V		No	gnomAD
RCV002036610 rs753437612	202	R>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1591289292	203	D>A		No	Ensembl
rs1243820044	205	I>V		No	gnomAD
RCV001063548 rs1591289408 RCV001002891	207	L>H		No	ClinVar Ensembl dbSNP
rs386754168 RCV001514810	207	L>I		No	ClinVar Ensembl dbSNP
TCGA novel	208	Q>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs150247275	208	Q>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1282115516	209	S>R		No	TOPMed gnomAD
rs2134437753	209	S>R		No	Ensembl
rs758380277	210	L>M		No	ExAC TOPMed gnomAD
rs764196815	212	N>=	Variant assessed as Somatic; LOW impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	212	N>S	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1314570241	213	E>D		No	TOPMed gnomAD
rs138932379	213	E>K		No	ESP ExAC TOPMed gnomAD
rs1375872764 RCV001700801	214	M>T		No	ClinVar TOPMed dbSNP gnomAD
rs1941494217	216	T>A		No	TOPMed gnomAD
CA227792 VAR_010480 RCV000086148 rs281865275	216	T>I	a sporadic case of age-related macular degeneration [UniProt]	No	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs281865275	216	T>S		No	ExAC TOPMed gnomAD
RCV001382240 rs281865238	218	R>G		No	ClinVar TOPMed dbSNP
rs1941495803	219	T>P		No	TOPMed
rs1941496750	220	Q>H		No	Ensembl
rs775283269	220	Q>K		No	ExAC gnomAD
rs2134440248 RCV001938144	223	H>P		No	ClinVar Ensembl dbSNP
RCV001210653 rs200162075	223	H>Q		No	ClinVar ExAC TOPMed dbSNP gnomAD
CA380838625 RCV000492958 rs281865243	224	L>Q		No	ClinGen ClinVar Ensembl dbSNP
RCV001901453 rs281865243	224	L>R		No	ClinVar Ensembl dbSNP
rs767552540	232	I>V		No	ExAC gnomAD
rs1418313930	233	P>L		No	TOPMed gnomAD
rs1941501578 RCV002026404	234	L>Q		No	ClinVar Ensembl dbSNP
rs1941501578 RCV001986535	234	L>R		No	ClinVar Ensembl dbSNP
rs2134440476 RCV002025815	234	L>V		No	ClinVar Ensembl dbSNP
rs369077599	236	Y>H		No	ESP ExAC TOPMed gnomAD
rs2134440586 RCV001972730	237	T>S		No	ClinVar Ensembl dbSNP
rs1941503926 RCV001268629	238	Q>R		No	ClinVar Ensembl dbSNP
RCV001930225 rs2134444811	239	V>A		No	ClinVar Ensembl dbSNP
rs121918290	239	V>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA TOPMed
rs1941602345 RCV001388530	242	V>missing		No	ClinVar dbSNP
rs186522420	244	V>G		No	Ensembl
rs1261870799	244	V>L		No	gnomAD
rs758792743	245	Y>*		No	ExAC TOPMed gnomAD
rs1565393659	246	S>R		No	Ensembl
RCV001894912 rs2134445000	248	F>L		No	ClinVar Ensembl dbSNP
rs369870892 RCV001210869	250	T>S		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1565393693	251	C>*		No	Ensembl
rs372989281	255	R>G		No	ESP ExAC TOPMed gnomAD
rs377370089 RCV002005801	255	R>L		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs377370089	255	R>Q		No	ESP ExAC TOPMed gnomAD
RCV001366300 rs1420999724	256	Q>R		No	ClinVar dbSNP gnomAD
rs1459736689	258	L>Q		No	TOPMed gnomAD
rs1459736689	258	L>R		No	TOPMed gnomAD
rs1591295146	259	N>T		No	Ensembl
RCV001009212 rs1591295182	260	P>missing		No	ClinVar dbSNP
rs778645644 RCV001008799	260	P>missing		No	ClinVar dbSNP
rs1591295223	264	Y>C		No	Ensembl
rs1273285125	264	Y>H		No	Ensembl
rs1591295223	264	Y>S		No	Ensembl
rs1178323708	265	P>R		No	TOPMed gnomAD
CA247179 RCV000179878 rs794727864	266	G>D		No	ClinGen ClinVar Ensembl dbSNP
rs1406277937	267	H>R		No	gnomAD
rs778715415 RCV001763153	268	E>D		No	ClinVar ExAC dbSNP gnomAD
rs866989280	269	L>V		No	gnomAD
rs747841550 RCV001295541	270	D>A		No	ClinVar ExAC dbSNP gnomAD
rs1308281595	271	L>F		No	TOPMed gnomAD
rs1336877707	272	V>I		No	TOPMed gnomAD
rs770903527	273	V>M		No	ExAC gnomAD
rs62639270	274	P>L		No	ESP ExAC TOPMed gnomAD
TCGA novel COSM1355296 rs1941615952 COSM1355297	275	V>A	Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic]	No	cosmic curated NCI-TCGA TOPMed
COSM1355294 VAR_025740 rs281865276 CA227820 COSM1355295 RCV000086172	275	V>I	large_intestine age-related macular degeneration [Cosmic, UniProt]	No	ClinGen cosmic curated ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs775791299 RCV001066998	277	T>M		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1249645656	279	L>P		No	gnomAD
COSM929548 COSM1152374	280	Q>H	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1438997201	280	Q>K		No	TOPMed gnomAD
rs764547020	280	Q>P		No	ExAC gnomAD
rs2134445611	281	F>L		No	Ensembl
rs2134445593	281	F>Y		No	Ensembl
RCV000086174 CA227823 rs281865532	283	F>missing		No	ClinGen ClinVar dbSNP
RCV001936317 rs1941618250	283	F>L		No	ClinVar dbSNP gnomAD
rs1941618522	284	Y>H		No	TOPMed gnomAD
rs376577490	285	V>A		No	ESP ExAC TOPMed gnomAD
rs376577490 RCV001090041	285	V>D		No	ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs370276003	286	G>V		No	ESP ExAC TOPMed gnomAD
rs1167884794	288	L>P		No	TOPMed
rs754551404	289	K>Q		No	ExAC gnomAD
COSM6133816 COSM6133817	290	V>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs886039311	292	E>K		No	Ensembl
RCV001958595 rs2134453127	293	Q>H		No	ClinVar Ensembl dbSNP
rs777320382	295	I>L		No	TOPMed gnomAD
rs777320382	295	I>V		No	TOPMed gnomAD
rs777320382	295	I>F		No	TOPMed gnomAD
rs2134453263 RCV002044953	297	P>H		No	ClinVar Ensembl dbSNP
rs2134453358 RCV001953577	301	D>G		No	ClinVar Ensembl dbSNP
rs2134453407 RCV002016933	302	D>E		No	ClinVar Ensembl dbSNP
rs1941817289 RCV001205182	304	D>E		No	ClinVar Ensembl dbSNP
CA227843 rs281865260 RCV000086191	304	D>missing		No	ClinGen ClinVar dbSNP
RCV001995736 rs2134453498	306	E>Q		No	ClinVar Ensembl dbSNP
rs1247710193	310	I>V		No	TOPMed gnomAD
rs1941821943 RCV001049953	313	R>S		No	ClinVar Ensembl dbSNP
rs374380288	314	N>H		No	ExAC gnomAD
rs1941822616	314	N>S		No	Ensembl
rs773700304	315	L>V		No	ExAC gnomAD
rs1941823279	316	Q>*		No	Ensembl
rs1347134318	316	Q>H		No	TOPMed gnomAD
rs267603070	318	S>F		No	Ensembl
rs267603070 RCV001043600	318	S>Y		No	ClinVar Ensembl dbSNP
rs199960774	319	L>V		No	gnomAD
rs2134455573	322	V>A		No	Ensembl
rs1941876047	324	E>*		No	Ensembl
rs868782075	324	E>G		No	Ensembl
COSM415501 COSM1133361	325	M>V	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1941877030	327	Q>E		No	TOPMed
rs1591303533	327	Q>R		No	TOPMed
rs547017234	328	D>E		No	Ensembl
rs747224737 RCV002050612	329	L>P		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs201386186 RCV002041435	331	R>P		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs757536535	331	R>W		No	ExAC TOPMed gnomAD
rs1941880096 RCV001225452	332	M>missing		No	ClinVar dbSNP
rs1410914384	333	E>K		No	gnomAD
rs148326372 RCV001340636	334	P>L	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs148326372	334	P>R		No	ESP ExAC TOPMed gnomAD
rs1465048077	335	D>Y		No	gnomAD
RCV000152854 CA233534 rs727503825	336	M>R		No	ClinGen ClinVar ExAC dbSNP gnomAD
COSM3869723 COSM3869722	338	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
RCV002041079 rs2134455849	338	W>CY		No	ClinVar Ensembl dbSNP
rs1412750890	338	W>R		No	TOPMed
rs1393643862	339	N>S		No	gnomAD
rs376123204	340	K>E		No	ESP TOPMed
rs747612440	341	P>R		No	ExAC TOPMed gnomAD
rs1309217452	341	P>S		No	TOPMed gnomAD
rs766115316	342	E>G		No	ExAC gnomAD
rs202234687	342	E>K		No	1000Genomes ExAC TOPMed gnomAD
rs202234687	342	E>Q		No	1000Genomes ExAC TOPMed gnomAD
rs1591303900	344	Q>*		No	Ensembl
rs948034277	344	Q>R		No	TOPMed
COSM1289585 COSM1289586 rs1254325695	345	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	cosmic curated gnomAD
rs1045042331	345	P>S		No	TOPMed gnomAD
rs1045042331	345	P>T		No	TOPMed gnomAD
rs1481681066	346	P>A		No	TOPMed gnomAD
rs563488311	346	P>H		No	1000Genomes ExAC TOPMed gnomAD
rs563488311	346	P>R		No	1000Genomes ExAC TOPMed gnomAD
rs1481681066	346	P>S		No	TOPMed gnomAD
rs1184930501	347	Y>C		No	TOPMed
COSM5831799 COSM5831798	347	Y>L	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs2134456099	348	T>A		No	Ensembl
COSM1355300 COSM1355299	349	A>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1481600052	349	A>T		No	gnomAD
rs1425362764	350	A>D		No	gnomAD
rs1201319805	350	A>T		No	gnomAD
rs1425362764	350	A>V		No	gnomAD
TCGA novel	351	S>F	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1941891455	351	S>Y		No	TOPMed
rs147409760	352	A>T		No	ESP ExAC TOPMed gnomAD
rs1374266437	352	A>V		No	gnomAD
rs1429895604	353	Q>L		No	gnomAD
rs1483989433	354	F>Y		No	TOPMed
rs139637557	355	R>C	Retinitis pigmentosa (rp) [Ensembl]	No	ESP ExAC TOPMed gnomAD
rs139637557	355	R>G	Retinitis pigmentosa (rp) [Ensembl]	No	ESP ExAC TOPMed gnomAD
rs1295669283	356	R>*		No	TOPMed gnomAD
rs17854138	357	A>D		No	1000Genomes ExAC TOPMed gnomAD
rs2134456349	359	F>I		No	Ensembl
RCV001757084 rs2134456362	359	F>I		No	ClinVar Ensembl dbSNP
RCV001347379 rs145212203	360	M>I		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1941896701	360	M>R		No	TOPMed
rs1941896701	360	M>T		No	TOPMed
rs746149795	360	M>V		No	ExAC gnomAD
COSM1475640 COSM1475639 rs147228028	363	T>A	breast [Cosmic]	No	cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs147228028	363	T>P		No	1000Genomes ESP ExAC TOPMed gnomAD
COSM3687426 COSM3687427	366	I>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1488060203	367	S>N		No	gnomAD
rs767589777	370	K>E		No	ExAC TOPMed gnomAD
rs767589777	370	K>Q		No	ExAC TOPMed gnomAD
rs945086762	370	K>R		No	TOPMed gnomAD
rs750692603	371	E>K		No	ExAC gnomAD
RCV001986904 rs750298564	372	E>missing		No	ClinVar dbSNP
rs1000828274 RCV001327119	373	M>T		No	ClinVar TOPMed dbSNP gnomAD
rs1385015488	373	M>V		No	TOPMed
rs766357080 RCV001008800	374	E>missing		No	ClinVar dbSNP
RCV002019114 rs756372609	375	F>V		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1226344601	376	Q>*		No	gnomAD
rs1226344601	376	Q>K		No	gnomAD
rs373504272	376	Q>P		No	ESP ExAC TOPMed gnomAD
rs373504272	376	Q>R		No	ESP ExAC TOPMed gnomAD
rs1942145711	378	N>H		No	TOPMed gnomAD
rs199998058 RCV000889231	378	N>S		No	ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1942146755	380	E>D		No	TOPMed
rs1423123724	380	E>K		No	TOPMed
rs112199774	381	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs547287155	382	E>K		No	ExAC TOPMed gnomAD
rs1479677299	383	E>K		No	TOPMed gnomAD
RCV001068918 rs1479677299	383	E>Q		No	ClinVar TOPMed dbSNP gnomAD
rs1942148585	384	D>N		No	TOPMed
rs1426042227	385	A>V		No	TOPMed
rs1942149363	386	H>D		No	TOPMed
rs780666113	386	H>Q		No	ExAC TOPMed gnomAD
RCV001996027 rs374772670	387	A>T		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs529504414	388	G>D		No	1000Genomes
COSM4034671 COSM4034672	388	G>R	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1180691346	389	I>T		No	TOPMed gnomAD
RCV001056139 rs1490119932	392	R>missing		No	ClinVar dbSNP
rs201225558	392	R>H		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1358715224	395	G>D		No	gnomAD
rs776481126	395	G>R		No	ExAC TOPMed gnomAD
rs1942153329	397	Q>*		No	gnomAD
rs373682410	397	Q>R		No	ESP TOPMed gnomAD
RCV001049780 rs199890510	398	S>F		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2134468608 RCV002047724	399	H>R		No	ClinVar Ensembl dbSNP
RCV001227440 rs767605874	400	D>H		No	ClinVar ExAC dbSNP gnomAD
rs767605874	400	D>N		No	ExAC gnomAD
RCV001365324 rs764148803	402	H>Q		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs149678971 RCV000173794 CA239243	402	H>Y		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs2134468698	403	P>T		No	Ensembl
rs202125490	404	P>A		No	1000Genomes ExAC TOPMed gnomAD
rs761325462	404	P>L		No	ExAC TOPMed gnomAD
rs202125490	404	P>S		No	1000Genomes ExAC TOPMed gnomAD
rs753276852	405	R>K		No	ExAC TOPMed gnomAD
rs753276852	405	R>T		No	ExAC TOPMed gnomAD
rs1393863529	406	A>P		No	TOPMed gnomAD
rs1393863529	406	A>T		No	TOPMed gnomAD
COSM1133362 COSM415500	408	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs370293904	408	S>L		No	ESP ExAC
rs1166883110	408	S>P		No	TOPMed gnomAD
rs146689925	410	T>I		No	1000Genomes ExAC TOPMed gnomAD
rs1374775637	411	K>E		No	TOPMed gnomAD
rs1374775637	411	K>Q		No	TOPMed gnomAD
rs1409957638	412	L>Q		No	gnomAD
rs1173448901	414	W>*		No	gnomAD
rs940467225	416	K>Q		No	TOPMed
COSM929550 COSM1152375	417	R>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1429645410	419	S>C		No	TOPMed
rs992038191	419	S>P		No	TOPMed
rs1338182453	420	L>F		No	gnomAD
rs1338182453	420	L>I		No	gnomAD
rs1942162250	420	L>P		No	TOPMed
rs1942162768	422	H>L		No	TOPMed
rs1942162504	422	H>Y		No	TOPMed gnomAD
RCV000487346 rs201210799 CA6041029	424	G>A		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs201210799	424	G>V		No	ESP ExAC TOPMed gnomAD
rs901685986	426	P>L		No	Ensembl
rs1942163917	426	P>T		No	gnomAD
rs1371088985	427	K>Q		No	gnomAD
rs1942164948	427	K>R		No	TOPMed gnomAD
TCGA novel	428	N>T	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs774056706	429	H>Q		No	ExAC TOPMed gnomAD
rs1942165454	429	H>R		No	TOPMed gnomAD
rs1942166037	431	A>T		No	Ensembl
rs1591312243	431	A>V		No	Ensembl
rs1305938980	432	A>T		No	gnomAD
rs1942166792	433	K>R		No	TOPMed
rs201299251	434	Q>E		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1436711610	435	N>I		No	gnomAD
RCV001458084 rs145439032 COSM1638901 COSM1638902	436	V>I	stomach [Cosmic]	No	cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760747956 RCV001244085	437	R>S		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs966381221	439	Q>H		No	TOPMed
RCV001389092 rs2134469325	440	E>missing		No	ClinVar dbSNP
rs1294740416	440	E>G		No	TOPMed gnomAD
rs1942169500	440	E>K		No	TOPMed
rs977805937	441	D>N		No	TOPMed
rs776861841	442	N>D		No	ExAC gnomAD
rs759777954	442	N>K		No	ExAC gnomAD
rs148854184	442	N>T		No	ESP TOPMed gnomAD
rs1316030506	442	N>missing	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
RCV001053337 rs1316030506	442	N>missing		No	ClinVar dbSNP
rs1942171666 RCV001976731	444	A>V		No	ClinVar dbSNP gnomAD
rs753051695	445	W>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	ExAC NCI-TCGA gnomAD
rs1334619583	445	W>R		No	TOPMed gnomAD
rs1246375311	446	K>Q		No	gnomAD
rs1190605454	447	L>P		No	gnomAD
rs1942173575	450	V>A		No	Ensembl
rs764761141	450	V>L		No	ExAC TOPMed gnomAD
RCV001310599 rs764761141	450	V>M		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs371105070 RCV001948529	451	D>E		No	ESP ExAC TOPMed gnomAD ClinVar dbSNP
rs1406718351	451	D>N		No	Ensembl
rs1392588193 RCV001202956	452	A>T	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs1188359070	453	F>I		No	Ensembl
rs1942174860	453	F>S		No	Ensembl
rs1942175092	454	K>R		No	gnomAD
rs1329002281	458	L>R		No	TOPMed gnomAD
rs1297683810	459	Y>C		No	gnomAD
rs1942176525	459	Y>D		No	gnomAD
rs1942176525	459	Y>N		No	gnomAD
rs748921533	460	Q>*		No	ExAC gnomAD
rs754638659	460	Q>L		No	ExAC gnomAD
rs778760005	461	R>T		No	ExAC gnomAD
rs747964378	464	Y>C		No	ExAC gnomAD
TCGA novel	464	Y>P	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1210810436	465	Y>N		No	gnomAD
rs925082592	466	S>G		No	TOPMed gnomAD
rs953030989	466	S>T		No	Ensembl
rs771979550	467	A>D		No	ExAC TOPMed gnomAD
rs771979550	467	A>G		No	ExAC TOPMed gnomAD
rs747043918 RCV001723483	468	P>L		No	ClinVar ExAC dbSNP gnomAD
rs776730181	470	T>M		No	ExAC TOPMed gnomAD
RCV001531735 rs2134470006	471	P>L		No	ClinVar Ensembl dbSNP
rs569371643	471	P>T		No	1000Genomes ExAC gnomAD
rs146447431	472	L>R		No	ESP
rs2134470043	473	S>R		No	Ensembl
rs1264264191	474	P>A		No	TOPMed
COSM324812 rs1162446542	474	P>H	lung [Cosmic]	No	cosmic curated gnomAD
rs1162446542 RCV001934778	474	P>L		No	ClinVar dbSNP gnomAD
rs140681289	475	T>N		No	ESP TOPMed gnomAD
rs2134470083	475	T>P		No	Ensembl
RCV002029435 rs775915631	477	M>T		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1486368863	480	P>L		No	gnomAD
rs200510369	480	P>T		No	1000Genomes
rs1942184510	481	L>R		No	TOPMed
rs1591312907	485	A>S		No	Ensembl
COSM1146743 COSM689287	486	P>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM4816484 rs1942186957 COSM4816483	487	S>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA Cosmic Ensembl
rs762453759	489	L>F		No	ExAC gnomAD
rs933156297	489	L>H		No	Ensembl
rs762453759	489	L>V		No	ExAC gnomAD
rs375071630	491	S>G		No	ESP ExAC TOPMed gnomAD
rs754658149	493	T>A		No	ExAC gnomAD
TCGA novel	494	G>D	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs752479694	495	I>T		No	ExAC gnomAD
rs1473480899	496	D>N		No	gnomAD
rs578075838	497	T>I		No	1000Genomes ExAC gnomAD
RCV001299169 rs578075838	497	T>N		No	ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1565043094	498	K>*		No	Ensembl
rs1565043094 RCV002028183	498	K>E		No	ClinVar Ensembl dbSNP
rs1410773942	499	D>V		No	gnomAD
rs368374819 RCV001227814	500	K>E		No	ClinVar ESP TOPMed dbSNP gnomAD
rs1402374620	500	K>I		No	gnomAD
rs746917314	501	S>R		No	ExAC gnomAD
rs1382396685	501	S>T		No	TOPMed gnomAD
rs1334139204	502	L>F		No	TOPMed gnomAD
rs1942193291	503	K>Q		No	Ensembl
rs770903094	505	V>L		No	ExAC TOPMed gnomAD
rs770903094	505	V>M		No	ExAC TOPMed gnomAD
rs1257833189	509	A>D		No	gnomAD
rs1942195824	509	A>T		No	TOPMed
rs1345860061	510	K>E		No	gnomAD
RCV001361975 rs1346625604	510	K>R		No	ClinVar TOPMed dbSNP gnomAD
RCV002007407 rs1244671706	512	S>missing		No	ClinVar dbSNP
RCV001344436 rs775584943	512	S>I		No	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001232332 rs775584943	512	S>N		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs775584943	512	S>T		No	ExAC TOPMed gnomAD
TCGA novel	514	E>*	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs769171188	514	E>G		No	ExAC gnomAD
rs1942199413	516	L>F		No	TOPMed
rs1416931205	516	L>P		No	gnomAD
COSM3809778 COSM3809779	518	E>K	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
COSM1585857 COSM929551	519	S>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA Cosmic
rs1465126877	519	S>R		No	gnomAD
rs138689602 RCV001225571	520	D>E		No	ClinVar ESP dbSNP gnomAD
rs1412003062	520	D>G		No	gnomAD
RCV001039796 rs61747600	520	D>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1161847952	521	G>E		No	TOPMed
rs764895096	521	G>R		No	ExAC TOPMed gnomAD
rs752324110	523	L>W		No	ExAC gnomAD
rs1278023846 COSM3769378 COSM3769377 RCV001324283	524	M>I	pancreas [Cosmic]	No	cosmic curated ClinVar TOPMed dbSNP gnomAD
rs145209035	524	M>R		No	1000Genomes ESP ExAC TOPMed gnomAD
RCV000911837 rs145209035	524	M>T		No	ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_010488 RCV000086089 rs200582915 CA227726	525	E>A		No	ClinGen ClinVar UniProt 1000Genomes ExAC dbSNP gnomAD
rs1942204059	525	E>D		No	gnomAD
rs777521168	525	E>K		No	ExAC TOPMed gnomAD
rs1389863115	526	H>P		No	TOPMed gnomAD
rs1273608224	527	P>A		No	gnomAD
rs1479563724	527	P>R		No	gnomAD
RCV001248240 rs1942204956	528	E>Q		No	ClinVar Ensembl dbSNP
rs757181644	528	E>V		No	ExAC gnomAD
rs780992845	531	Q>E		No	ExAC gnomAD
rs745899258	531	Q>H		No	ExAC gnomAD
rs2134471406	531	Q>P		No	Ensembl
rs1942206204	532	V>M		No	Ensembl
TCGA novel	533	R>M	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
RCV001985636 rs2134471443	534	R>missing		No	ClinVar dbSNP
rs147490956	535	K>E		No	ESP gnomAD
rs780280320	537	V>M		No	ExAC TOPMed gnomAD
rs1460811009	538	E>A		No	TOPMed gnomAD
rs1942208203	538	E>Q		No	TOPMed
rs749501361	540	N>Y		No	ExAC
rs1942209504	542	T>A		No	TOPMed gnomAD
rs543908813	542	T>K		No	1000Genomes ExAC TOPMed gnomAD
rs543908813	542	T>M		No	1000Genomes ExAC TOPMed gnomAD
rs1942209504	542	T>S		No	TOPMed gnomAD
rs1301327650 RCV001933066	543	D>E		No	ClinVar TOPMed dbSNP gnomAD
rs762277977	543	D>G		No	ExAC gnomAD
RCV000994643 rs1591313915	544	M>I		No	ClinVar Ensembl dbSNP
rs772649115	544	M>L		No	ExAC gnomAD
rs773615280	546	E>*		No	ExAC TOPMed gnomAD
rs773615280	546	E>K		No	ExAC TOPMed gnomAD
rs773615280 RCV001955729	546	E>Q		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1033477566	547	I>M		No	TOPMed gnomAD
rs1942213265	549	E>D		No	TOPMed
rs143671863	549	E>K		No	ESP ExAC TOPMed gnomAD
RCV001939181 rs1268844906	550	N>D		No	ClinVar dbSNP gnomAD
rs1265606993	551	H>N		No	gnomAD
rs775113722	553	K>E		No	ExAC gnomAD
rs775113722	553	K>Q		No	ExAC gnomAD
rs1942214888	554	E>G		No	gnomAD
rs1942214888	554	E>V		No	gnomAD
rs1942215474	555	P>H		No	TOPMed gnomAD
rs1942215474	555	P>L		No	TOPMed gnomAD
rs1942215219	555	P>T		No	gnomAD
rs1942216312	556	L>F		No	Ensembl
rs1188988717	556	L>S		No	TOPMed gnomAD
rs1942216554	557	E>D		No	Ensembl
rs147192139	557	E>Q		No	1000Genomes ESP ExAC TOPMed gnomAD
rs1189724070	559	S>*		No	gnomAD
rs1942216814	559	S>P		No	Ensembl
rs1942217534 RCV001214052	560	P>T		No	ClinVar TOPMed dbSNP gnomAD
rs2134472199	561	T>S		No	Ensembl
TCGA novel	562	N>Y	Variant assessed as Somatic; HIGH impact. [NCI-TCGA]	No	NCI-TCGA
rs1591314110	562	N>Y		No	Ensembl
rs751287755	563	I>L		No	ExAC gnomAD
rs2134472255 RCV002033590	563	I>M		No	ClinVar Ensembl dbSNP
rs1591314140	563	I>T		No	TOPMed
rs751287755	563	I>V		No	ExAC gnomAD
rs1343364057 COSM309469	564	H>N	lung [Cosmic]	No	cosmic curated Ensembl
TCGA novel	564	H>Q	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
RCV001874762 rs767436221	565	T>A		No	ClinVar ExAC TOPMed dbSNP gnomAD
RCV001304236 rs1942219945	565	T>N		No	ClinVar Ensembl dbSNP
rs1350896185	565	T>N		No	TOPMed gnomAD
rs1324191760	566	T>K		No	gnomAD
rs148060787	567	L>V		No	1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	568	K>N	Variant assessed as Somatic; MODERATE impact. [NCI-TCGA]	No	NCI-TCGA
rs1419491938	569	D>E		No	TOPMed
rs779987275	569	D>N		No	ExAC gnomAD
rs749448206 RCV001970006	571	M>T		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs1359796484	571	M>V		No	gnomAD
rs1313158069	572	D>E		No	gnomAD
RCV001319161 rs755188083	574	Y>*		No	ClinVar ExAC TOPMed dbSNP gnomAD
rs779295905 RCV001359429	575	W>*		No	ClinVar ExAC dbSNP gnomAD
rs748474244	576	A>T		No	ExAC gnomAD
rs1464925959	578	E>*		No	gnomAD
rs1800010 RCV001344264	578	E>G		No	ClinVar TOPMed dbSNP gnomAD
VAR_009278 rs1800010	578	E>V		No	UniProt TOPMed dbSNP gnomAD
rs1207565192	579	N>D		No	gnomAD
rs1024500096	580	R>S		No	TOPMed gnomAD
rs2134480680	582	E>D		No	Ensembl
rs369985911	583	A>T		No	ESP ExAC TOPMed gnomAD
RCV000174094 CA239557 rs534854547	584	H>Q		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001205041 rs1415218452	585	S>Y		No	ClinVar TOPMed dbSNP gnomAD
rs757459959	586	S>S		No	ExAC gnomAD

4 associated diseases with O76090

[MIM: 153700]: Macular dystrophy, vitelliform, 2 (VMD2)

An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 613194]: Retinitis pigmentosa 50 (RP50)

A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 611809]: Bestrophinopathy, autosomal recessive (ARB)

A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 193220]: Vitreoretinochoroidopathy (VRCP)

An autosomal dominant ocular disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss. . Note=The disease is caused by variants affecting the gene represented in this entry.
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. . Note=The disease is caused by variants affecting the gene represented in this entry.
A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies. . Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal dominant ocular disorder characterized by vitreoretinochoroidal dystrophy. The clinical presentation is variable. VRCP may be associated with cataract, nanophthalmos, microcornea, shallow anterior chamber, and glaucoma. . Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for O76090

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	24 - 278	IPR000719
domain	NAF domain	313 - 373	IPR004041
active_site	Serine/threonine-protein kinase, active site	142 - 154	IPR008271
binding_site	Protein kinase, ATP binding site	30 - 57	IPR017441
domain	NAF/FISL domain	310 - 334	IPR018451

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Basolateral cell membrane ; Multi-pass membrane protein	Localized at the surface membrane of microdomains adjacent to glutamatergic synapses
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 GO annotations of cellular component

Name	Definition
basal plasma membrane	The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
basolateral plasma membrane	The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis.
chloride channel complex	An ion channel complex through which chloride ions pass.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
membrane microdomain	A membrane region with a lipid composition that is distinct from that of the membrane regions that surround it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynapse	The part of a synapse that is part of the presynaptic cell.

5 GO annotations of molecular function

Name	Definition
bicarbonate transmembrane transporter activity	Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-.
chloride channel activity	Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism.
identical protein binding	Binding to an identical protein or proteins.
intracellular calcium activated chloride channel activity	Enables the transmembrane transfer of chloride by a channel that opens in response to stimulus by a calcium ion or ions. Transport by a channel involves catalysis of facilitated diffusion of a solute (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel, without evidence for a carrier-mediated mechanism.
ligand-gated channel activity	Enables the transmembrane transfer of a solute by a channel that opens when a specific ligand has been bound by the channel complex or one of its constituent parts.

10 GO annotations of biological process

Name	Definition
chloride transport	The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
detection of light stimulus involved in visual perception	The series of events involved in visual perception in which a light stimulus is received and converted into a molecular signal.
gamma-aminobutyric acid secretion, neurotransmission	The regulated release of gamma-aminobutyric acid by a cell, in which the gamma-aminobutyric acid acts as a neurotransmitter.
glutamate secretion	The controlled release of glutamate by a cell. The glutamate is the most abundant excitatory neurotransmitter in the nervous system.
monoatomic ion transmembrane transport	A process in which a monoatomic ion is transported across a membrane. Monatomic ions (also called simple ions) are ions consisting of exactly one atom.
protein complex oligomerization	The process of creating protein oligomers, compounds composed of a small number, usually between three and ten, of component monomers; protein oligomers may be composed of different or identical monomers. Oligomers may be formed by the polymerization of a number of monomers or the depolymerization of a large protein polymer.
regulation of calcium ion transport	Any process that modulates the frequency, rate or extent of the directed movement of calcium ions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.
regulation of synaptic plasticity	A process that modulates synaptic plasticity, the ability of synapses to change as circumstances require. They may alter function, such as increasing or decreasing their sensitivity, or they may increase or decrease in actual numbers.
transepithelial chloride transport	The directed movement of chloride ions from one side of an epithelium to the other.
visual perception	The series of events required for an organism to receive a visual stimulus, convert it to a molecular signal, and recognize and characterize the signal. Visual stimuli are detected in the form of photons and are processed to form an image.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8NFU0	BEST4	Bestrophin-4	Homo sapiens (Human)	SS
Q8N1M1	BEST3	Bestrophin-3	Homo sapiens (Human)	SS
Q8NFU1	BEST2	Bestrophin-2a	Homo sapiens (Human)	SS
Q6H1V1	Best3	Bestrophin-3	Mus musculus (Mouse)	EV
Q8BGM5	Best2	Bestrophin-2	Mus musculus (Mouse)	SS
O88870	Best1	Bestrophin-1	Mus musculus (Mouse)	SS
P34319	best-5	Bestrophin homolog 5	Caenorhabditis elegans	PR
P34672	best-24	Bestrophin homolog 24	Caenorhabditis elegans	PR
Q23369	best-22	Bestrophin homolog 22	Caenorhabditis elegans	PR
O45435	best-13	Bestrophin homolog 13	Caenorhabditis elegans	PR
Q19978	best-14	Bestrophin homolog 14	Caenorhabditis elegans	PR
O18303	best-25	Bestrophin homolog 25	Caenorhabditis elegans	PR

10	20	30	40	50	60
MTITYTSQVA	NARLGSFSRL	LLCWRGSIYK	LLYGEFLIFL	LCYYIIRFIY	RLALTEEQQL
70	80	90	100	110	120
MFEKLTLYCD	SYIQLIPISF	VLGFYVTLVV	TRWWNQYENL	PWPDRLMSLV	SGFVEGKDEQ
130	140	150	160	170	180
GRLLRRTLIR	YANLGNVLIL	RSVSTAVYKR	FPSAQHLVQA	GFMTPAEHKQ	LEKLSLPHNM
190	200	210	220	230	240
FWVPWVWFAN	LSMKAWLGGR	IRDPILLQSL	LNEMNTLRTQ	CGHLYAYDWI	SIPLVYTQVV
250	260	270	280	290	300
TVAVYSFFLT	CLVGRQFLNP	AKAYPGHELD	LVVPVFTFLQ	FFFYVGWLKV	AEQLINPFGE
310	320	330	340	350	360
DDDDFETNWI	VDRNLQVSLL	AVDEMHQDLP	RMEPDMYWNK	PEPQPPYTAA	SAQFRRASFM
370	380	390	400	410	420
GSTFNISLNK	EEMEFQPNQE	DEEDAHAGII	GRFLGLQSHD	HHPPRANSRT	KLLWPKRESL
430	440	450	460	470	480
LHEGLPKNHK	AAKQNVRGQE	DNKAWKLKAV	DAFKSAPLYQ	RPGYYSAPQT	PLSPTPMFFP
490	500	510	520	530	540
LEPSAPSKLH	SVTGIDTKDK	SLKTVSSGAK	KSFELLSESD	GALMEHPEVS	QVRRKTVEFN
550	560	570	580
LTDMPEIPEN	HLKEPLEQSP	TNIHTTLKDH	MDPYWALENR	DEAHS