AiPD: Autoinhibited Protein Database

Q96J66

Gene name	ABCC11
Protein name	ATP-binding cassette sub-family C member 11
Names	Multidrug resistance-associated protein 8
Species	Homo sapiens (Human)
KEGG Pathway	hsa:85320
EC number	7.6.2.2: Linked to the hydrolysis of a nucleoside triphosphate
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

696-805 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

696-805 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

1 structures for Q96J66

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96J66-F1	Predicted				AlphaFoldDB

1290 variants for Q96J66

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000003739 CA395824738 CA116353 RCV000003738 rs17822931 VAR_025438 RCV000003737	180	G>R	Apocrine gland secretion, variation in Colostrum secretion Axillary odor dry earwax and lack of axillary odor phenotype; loss of N-glycosylation; strongly reduced plasma membrane localization; no DHEAS transport and largely reduced estrone 3-sulfate transport; decreased protein concentration in axillary sweat [ClinVar, UniProt]	Yes	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar UniProt dbSNP
RCV000003740 rs387906296	1313	D>missing	Apocrine gland secretion, variation in [ClinVar]	Yes	ClinVar dbSNP
rs1252203464 CA395825893	2	T>I		No	ClinGen TOPMed
CA8044349 rs200128517	3	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395825867 rs1200710177	6	T>I		No	ClinGen gnomAD
RCV000881592 CA8044347 rs112960305	8	W>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1277960204 CA395825854	8	W>G		No	ClinGen gnomAD
CA8044346 rs564152137	9	V>L		No	ClinGen ExAC gnomAD
rs1305459552 CA395825833	11	N>I		No	ClinGen gnomAD
rs751767882 CA8044344	12	S>C		No	ClinGen ExAC TOPMed gnomAD
CA8044345 rs144934222	12	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs375230100 CA8044343	13	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA280269934 rs994432426	14	G>V		No	ClinGen TOPMed
CA8044340 rs149486194	17	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8044339 rs759367431 COSM158801	19	R>C	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
VAR_025437 rs16945988 CA8044338	19	R>H	no effect on glycosylation; no effect on transport activity; no effect on plasma membrane localization [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA395825780 rs1439498289	21	I>L		No	ClinGen TOPMed gnomAD
CA395825779 rs1439498289	21	I>V		No	ClinGen TOPMed gnomAD
CA8044336 rs145214745 COSM970997	22	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8044335 rs770373954	23	I>V		No	ClinGen ExAC gnomAD
CA395825756 rs1237030305	24	G>D		No	ClinGen gnomAD
rs183790364 CA8044333	25	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8044331 CA395825732 rs756705023	27	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1237805168 CA395825738	27	M>V		No	ClinGen gnomAD
CA395825720 rs1485528294	29	S>L		No	ClinGen TOPMed
TCGA novel	31	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1258389770 CA395825702	32	I>T		No	ClinGen TOPMed
CA395825695 rs1322551465	33	Y>C		No	ClinGen TOPMed gnomAD
CA8044312 rs368507781	34	K>E		No	ClinGen ESP ExAC gnomAD
rs1031803930 CA280269168	37	T>A		No	ClinGen TOPMed
CA8044310 rs757675670	38	L>F		No	ClinGen ExAC gnomAD
CA8044309 rs747413417	40	D>H		No	ClinGen ExAC gnomAD
TCGA novel	41	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395825626 rs778257560	42	P>H		No	ClinGen ExAC gnomAD
CA8044308 rs778257560	42	P>R		No	ClinGen ExAC gnomAD
rs867996653 CA280269144	42	P>S		No	ClinGen TOPMed gnomAD
CA395825627 rs867996653	42	P>T		No	ClinGen TOPMed gnomAD
CA8044306 rs752961176	43	W>L		No	ClinGen ExAC gnomAD
rs765361676 CA8044305	44	S>G		No	ClinGen ExAC gnomAD
rs754954499 CA8044304	46	Q>E		No	ClinGen ExAC gnomAD
rs1567289518 CA395825584	48	R>K		No	ClinGen Ensembl
CA280269114 rs998896030	50	P>S		No	ClinGen Ensembl
rs1217483837 CA395825566	51	E>K		No	ClinGen TOPMed gnomAD
CA395825550 rs1307523973	53	P>S		No	ClinGen TOPMed gnomAD
rs151293814 CA8044302	54	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs151293814 CA395825543	54	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8044301 rs766267977	55	R>G		No	ClinGen ExAC TOPMed gnomAD
rs760584264 CA8044300	55	R>S		No	ClinGen ExAC gnomAD
rs144840234 CA8044299	56	A>V		No	ClinGen ESP ExAC gnomAD
CA395825525 rs1443490940	58	V>I		No	ClinGen gnomAD
rs767297993 CA8044298	59	P>L		No	ClinGen ExAC
rs761462381 CA8044297	60	P>L		No	ClinGen ExAC TOPMed gnomAD
CA395825504 rs1170195765	61	W>L		No	ClinGen gnomAD
CA395825497 rs1397354464	62	G>E		No	ClinGen TOPMed
rs1354784680 CA395825490	63	K>R		No	ClinGen TOPMed
rs1354784680 CA395825491	63	K>T		No	ClinGen TOPMed
CA8044290 rs552491158	64	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8044291 rs748710748	64	Y>H		No	ClinGen ExAC gnomAD
CA395825479 rs1194037106	65	D>H		No	ClinGen TOPMed gnomAD
CA395825480 COSM1519128 rs1194037106	65	D>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA8044288 rs747502872	66	A>D		No	ClinGen ExAC gnomAD
CA280269044 rs781278023	68	L>M		No	ClinGen Ensembl
rs758767540 CA8044286	69	R>K		No	ClinGen ExAC TOPMed gnomAD
rs748394191 CA8044285	71	M>I		No	ClinGen ExAC gnomAD
CA280269027 rs930526247	71	M>T		No	ClinGen Ensembl
CA395825424 rs1231781480	73	P>L		No	ClinGen gnomAD
CA8044283 rs755116860	75	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs148400454 CA8044282	75	R>H	Variant assessed as Somatic; 0.0001859 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA395825406 rs1206874836	76	P>L		No	ClinGen TOPMed
rs1003451140 CA280269010	77	K>E		No	ClinGen TOPMed
CA395825401 rs1330995889	77	K>N		No	ClinGen gnomAD
rs144460593 CA8044281	77	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs530383890	78	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8044279 COSM140095 rs750296570	78	P>L	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8044280 RCV000881591 rs112756835	78	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773888393 CA8044252	79	R>S		No	ClinGen ExAC gnomAD
rs376339672 CA8044251	80	F>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8044250 rs762368484	80	F>S		No	ClinGen ExAC gnomAD
CA395825370 rs1416604167	81	P>S		No	ClinGen gnomAD
rs774644423 CA280267112	82	A>D		No	ClinGen ExAC TOPMed gnomAD
rs774644423 CA8044249	82	A>V		No	ClinGen ExAC TOPMed gnomAD
CA280267102 rs372557069	84	Q>*		No	ClinGen ESP TOPMed
rs372557069 CA280267105	84	Q>K		No	ClinGen ESP TOPMed
rs1567286335	84	Q>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA395825350 rs749484060	85	P>A		No	ClinGen ExAC TOPMed gnomAD
rs749484060 CA8044247	85	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8044245 rs769889661	87	D>A		No	ClinGen ExAC gnomAD
rs939706741 CA280267086	87	D>N		No	ClinGen TOPMed gnomAD
CA395825330 rs1299214667	88	N>S		No	ClinGen gnomAD
CA395825323 rs1189458524	89	A>G		No	ClinGen gnomAD
CA280267050 rs908188827	90	G>A		No	ClinGen TOPMed
rs1366836208 CA395825319	90	G>R		No	ClinGen gnomAD
rs1366836208 CA395825320	90	G>S		No	ClinGen gnomAD
CA395825297 rs1384222717	93	S>F		No	ClinGen TOPMed
CA8044244 rs369239146	94	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs145987153 CA8044243	95	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8044241 rs200527538	96	T>I		No	ClinGen 1000Genomes ExAC gnomAD
COSM970995 rs758156173 CA8044239	97	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs145048685 CA8044235	99	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8044236 rs145048685	99	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs138074011 CA8044237	99	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA280266958 rs990957529	99	W>S		No	ClinGen TOPMed
CA280266957 rs1001015523	100	L>F		No	ClinGen Ensembl
TCGA novel	100	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753457089 CA8044234	101	T>N		No	ClinGen ExAC gnomAD
rs371302823 CA8044232	102	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8044233 rs371302823	102	P>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	104	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8044230 rs764386051	104	M>V		No	ClinGen ExAC gnomAD
CA395825227 rs1439821849	106	Q>E		No	ClinGen gnomAD
rs200648114 CA8044227	109	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8044228 rs775796882	109	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1020990116 CA395825194	111	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1020990116 CA395825193	111	R>G		No	ClinGen TOPMed gnomAD
rs558747170 CA8044225	111	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1020990116 CA280266902	111	R>S		No	ClinGen TOPMed gnomAD
CA395825185 rs1376342512	112	L>F		No	ClinGen gnomAD
rs770980023 CA8044224	115	N>K		No	ClinGen ExAC TOPMed gnomAD
CA395825165 rs1198612837	115	N>Y		No	ClinGen gnomAD
rs891132916 CA280266877	116	T>I		No	ClinGen TOPMed gnomAD
rs891132916 CA395825157	116	T>S		No	ClinGen TOPMed gnomAD
CA8044222 rs777718779	119	P>L		No	ClinGen ExAC TOPMed gnomAD
CA395825140 rs1457405048	119	P>S		No	ClinGen gnomAD
CA280266859 rs997183954	120	L>R		No	ClinGen Ensembl
TCGA novel	121	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	121	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1272930454 CA395825118	123	H>P		No	ClinGen gnomAD
CA8044217 rs753473594	125	A>D		No	ClinGen ExAC TOPMed gnomAD
CA8044219 rs753473594	125	A>G		No	ClinGen ExAC TOPMed gnomAD
rs747997621 CA8044220	125	A>T		No	ClinGen ExAC gnomAD
rs753473594 CA8044218	125	A>V		No	ClinGen ExAC TOPMed gnomAD
rs374304368 CA280266836	126	S>L		No	ClinGen ESP TOPMed gnomAD
CA395825076 CA395825075 rs1328932485	129	N>K		No	ClinGen TOPMed gnomAD
rs200640389 CA8044213	131	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs199947088 CA280264540	132	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA395825030 rs1435881168	134	H>Q		No	ClinGen gnomAD
COSM1293594 CA8044198 rs779714888	134	H>Y	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM158800 rs755688330 CA8044197	135	R>C	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM970994 rs199620156 CA8044196	135	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs755688330 CA395825028	135	R>S		No	ClinGen ExAC TOPMed gnomAD
rs780549627 CA8044195	137	W>L		No	ClinGen ExAC gnomAD
TCGA novel	140	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8044193 rs561703459	143	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs543285690 COSM970993 CA8044191	144	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA8044190 rs150417900	144	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8044187 rs564022494	146	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1316067032 CA395824926	151	V>L		No	ClinGen gnomAD
TCGA novel	152	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	153	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761854984 CA8044185	158	F>L		No	ClinGen ExAC gnomAD
CA395824873 rs1292120438	159	Q>*		No	ClinGen gnomAD
CA8044182 rs986519416	159	Q>R		No	ClinGen Ensembl
CA8044181 rs774381116	161	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8044180 rs377479189	161	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs148081795 CA280264481	162	R>K		No	ClinGen ESP gnomAD
CA8044178 rs374168413	164	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA8044176 rs769540170	166	D>N		No	ClinGen ExAC TOPMed gnomAD
CA8044174 rs780762597	167	A>T		No	ClinGen ExAC gnomAD
rs1441942932 CA395824818	168	L>I		No	ClinGen TOPMed
TCGA novel	169	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1368874366 CA395824789	172	C>F		No	ClinGen TOPMed
CA280264453 rs143669053	173	F>V		No	ClinGen ESP gnomAD
rs200415522 CA8044172	175	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1485445374 CA395824756	177	S>N		No	ClinGen gnomAD
TCGA novel	179	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	179	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395824737 rs1332245024	180	G>E		No	ClinGen gnomAD
rs1308610908 CA395824713	182	I>K		No	ClinGen gnomAD
CA8044156 rs369871727	182	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1308610908 CA395824712	182	I>T		No	ClinGen gnomAD
CA395824715 rs1227411882	182	I>V		No	ClinGen TOPMed gnomAD
rs1370654090 CA395824690	185	I>M		No	ClinGen gnomAD
rs755537891 CA8044154	186	P>A		No	ClinGen ExAC TOPMed gnomAD
rs749755981 CA8044152	186	P>L		No	ClinGen ExAC gnomAD
rs755537891 CA8044153	186	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1297695666 CA395824686	187	K>E		No	ClinGen gnomAD
rs1391625021 CA395824664	190	E>K		No	ClinGen TOPMed
rs1308431330 CA395824645	192	S>L		No	ClinGen TOPMed
rs966455765 CA280263551	193	E>G		No	ClinGen gnomAD
CA8044150 rs756384408	194	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8044149 rs750686824	197	G>E		No	ClinGen ExAC gnomAD
CA8044146 CA8044147 rs751745270	202	G>R		No	ClinGen ExAC gnomAD
CA395824576 rs1480650103	203	V>L		No	ClinGen TOPMed gnomAD
rs1596819291 CA395824564	205	L>F		No	ClinGen Ensembl
CA8044144 rs762949418	208	A>P		No	ClinGen ExAC TOPMed gnomAD
CA395824544 rs762949418	208	A>T		No	ClinGen ExAC TOPMed gnomAD
CA395824521 rs1304609880	211	L>P		No	ClinGen gnomAD
TCGA novel	211	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1331026179 CA395824524	211	L>V		No	ClinGen gnomAD
CA8044141 rs577177114 COSM970990	213	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA395824513 rs577177114	213	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395824504 rs1375600223	214	C>F		No	ClinGen gnomAD
CA395824505 rs947883659	214	C>G		No	ClinGen TOPMed gnomAD
CA280263487 rs947883659	214	C>R		No	ClinGen TOPMed gnomAD
rs947883659 CA395824506	214	C>S		No	ClinGen TOPMed gnomAD
TCGA novel	214	C>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1432776614 CA395824490	216	K>M		No	ClinGen TOPMed gnomAD
CA395824488 rs1432776614	216	K>R		No	ClinGen TOPMed gnomAD
rs1374682843 CA395824482	217	S>Y		No	ClinGen gnomAD
CA395824447 rs1361736280	222	S>F		No	ClinGen gnomAD
CA8044137 rs772776541	223	S>G		No	ClinGen ExAC gnomAD
rs1429166106 CA395824437	224	W>*		No	ClinGen TOPMed gnomAD
CA8044136 rs771504332	224	W>R		No	ClinGen ExAC gnomAD
CA8044134 rs144776755	225	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8044135 rs144776755	225	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8044133 rs756612533	226	I>V		No	ClinGen ExAC gnomAD
CA395824406 rs16945974	228	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371616371 CA8044131	229	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA395824404 rs371616371	229	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs147729951 CA8044129	229	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA280263423 rs147729951	229	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8044127 rs145115472	235	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs191605136 CA8044125	235	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8044126 rs191605136	235	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	238	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395824340 rs1239986971	240	S>P		No	ClinGen TOPMed gnomAD
CA395824341 rs1239986971	240	S>T		No	ClinGen TOPMed gnomAD
CA395824335 rs1318877941	241	F>L		No	ClinGen gnomAD
CA8044124 rs765130223	243	F>L		No	ClinGen ExAC gnomAD
rs759497623 CA8044123	244	E>*		No	ClinGen ExAC gnomAD
rs1596818777 CA395824311	244	E>G		No	ClinGen Ensembl
CA8044122 rs753692556	245	K>M		No	ClinGen ExAC TOPMed gnomAD
rs1189976702 CA395824290	247	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs772801331 CA8044119	250	K>M		No	ClinGen ExAC
rs1382483134 CA395824261	251	S>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8044118 rs771644129	252	V>I		No	ClinGen ExAC gnomAD
rs761267938 CA8044117	253	I>T		No	ClinGen ExAC gnomAD
CA8044116 rs568737675	254	H>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1365120687 CA395824247	254	H>Y		No	ClinGen gnomAD
rs770259831 CA8044115	255	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8044114 rs746379472	255	I>N		No	ClinGen ExAC gnomAD
CA8044113 rs781690246	256	T>I		No	ClinGen ExAC gnomAD
rs1596818632 CA395824222	258	G>E		No	ClinGen Ensembl
rs373903848 CA280263363	258	G>R		No	ClinGen ESP TOPMed gnomAD
TCGA novel	259	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395824191 rs1367063838	261	I>V		No	ClinGen gnomAD
rs760129576 CA8044093	263	F>V		No	ClinGen ExAC TOPMed gnomAD
rs778181252 CA8044089	266	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1168949819 CA395824150	267	D>N		No	ClinGen gnomAD
TCGA novel	268	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748399124 CA8044087	272	F>C		No	ClinGen ExAC TOPMed gnomAD
CA8044086 rs199839251	273	E>K		No	ClinGen ExAC TOPMed gnomAD
CA395824102 rs1454880102	274	G>R		No	ClinGen gnomAD
CA8044084 rs753802914	275	V>A		No	ClinGen ExAC gnomAD
rs139032925 CA8044085	275	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146029165 CA8044083	278	G>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395824070 rs1272261945	279	P>A		No	ClinGen gnomAD
rs61739612 CA8044082	279	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1167778354 CA395824063	280	L>P		No	ClinGen TOPMed
CA8044079 rs145175432	282	L>P		No	ClinGen 1000Genomes ExAC
rs562208998 CA8044078	283	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs763531556 CA8044077	283	I>M		No	ClinGen ExAC gnomAD
rs1439424893 CA395824043	284	T>N		No	ClinGen gnomAD
CA8044075 rs138005798	285	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138005798 CA8044074	285	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395824033 rs200134154	286	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM970987 rs200134154 CA8044073	286	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1374115070 CA395824030	286	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1243973 rs772416830 CA8044071	287	S>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA395824021 rs1175675863	288	L>P		No	ClinGen TOPMed gnomAD
CA395824017 rs1469725321	289	V>F		No	ClinGen gnomAD
CA280259752 rs1055349761	292	S>G		No	ClinGen gnomAD
CA280259753 rs1055349761	292	S>R		No	ClinGen gnomAD
CA280259751 rs1000647925	293	I>V		No	ClinGen Ensembl
rs1209932270 CA395823971	296	Y>F		No	ClinGen gnomAD
rs1280362085 CA395823965	297	F>L		No	ClinGen gnomAD
CA280259740 rs903591180	298	I>T		No	ClinGen TOPMed
rs780093729 CA8044065	299	I>M		No	ClinGen ExAC gnomAD
rs749417574 CA8044066	299	I>V		No	ClinGen ExAC gnomAD
CA395823947 rs1209027336	300	G>R		No	ClinGen TOPMed gnomAD
CA395823932 rs1465198646	302	T>A		No	ClinGen TOPMed
rs745734623 CA8044063	304	F>C		No	ClinGen ExAC gnomAD
CA8044061 rs757024723 COSM1582979	305	I>F	meninges [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8044062 rs757024723	305	I>V		No	ClinGen ExAC gnomAD
CA280259729 rs78305785	306	A>V		No	ClinGen Ensembl
rs751204946 CA8044060	307	I>V		No	ClinGen ExAC gnomAD
rs1361227496 CA395823892	308	L>F		No	ClinGen gnomAD
rs763850877 CA8044059	309	C>F		No	ClinGen ExAC gnomAD
rs1400322364 CA395823885	309	C>W		No	ClinGen gnomAD
CA8044058 rs758105897	310	Y>N		No	ClinGen ExAC gnomAD
TCGA novel	311	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8044057 rs752317228	311	L>P		No	ClinGen ExAC gnomAD
CA395823865 rs1255349706	313	V>I		No	ClinGen gnomAD
CA8044055 rs761268622	315	P>A		No	ClinGen ExAC gnomAD
rs773713636 CA8044054	315	P>L		No	ClinGen ExAC TOPMed gnomAD
VAR_048144 rs11863236 CA8044052	317	A>E	no effect on glycosylation; no effect on transport activity; no effect on plasma membrane localization [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA395823840 rs11863236	317	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1184593014 CA395823760	320	M>L		No	ClinGen TOPMed gnomAD
CA8044038 rs778580429	320	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1184593014 CA395823758	320	M>V		No	ClinGen TOPMed gnomAD
CA395823733 rs1248308652	321	T>K		No	ClinGen gnomAD
TCGA novel	322	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395823721 rs1210171045	322	R>K		No	ClinGen gnomAD
rs754490246 CA8044037	324	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8044034 rs79238582	325	V>A		No	ClinGen ExAC gnomAD
rs79238582 CA280259186	325	V>G		No	ClinGen ExAC gnomAD
CA8044035 rs768117319	325	V>L		No	ClinGen ExAC TOPMed gnomAD
CA395823670 rs768117319	325	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA280259182 rs79108341	326	K>E		No	ClinGen Ensembl
CA395823636 rs763172242	327	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8044032 rs763172242	327	A>S		No	ClinGen ExAC TOPMed gnomAD
CA8044031 rs763172242	327	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1363071193 CA395823630	327	A>V		No	ClinGen gnomAD
TCGA novel	328	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs925355588 CA280259168	329	H>R		No	ClinGen TOPMed
rs775639090 CA8044030	329	H>Y		No	ClinGen ExAC gnomAD
CA395823586 rs769889737	330	H>D		No	ClinGen ExAC gnomAD
rs1006459519 CA395823572	330	H>Q		No	ClinGen TOPMed
rs769889737 CA8044029	330	H>Y		No	ClinGen ExAC gnomAD
rs138229360 CA8044028	331	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395823517 rs1459471305	334	V>F		No	ClinGen gnomAD
CA395823521 rs1459471305	334	V>I		No	ClinGen gnomAD
rs1196268973 CA395823508	335	S>R		No	ClinGen TOPMed
CA395823479 rs1427744845	336	D>G		No	ClinGen gnomAD
CA395823486 rs1168202507	336	D>N		No	ClinGen TOPMed gnomAD
CA395823467 rs1390553306	337	Q>K		No	ClinGen gnomAD
rs770963638 CA280259137	338	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8044025 COSM272293 rs746920060	338	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA280259134 rs746920060	338	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8044026 rs770963638	338	R>S		No	ClinGen ExAC TOPMed gnomAD
rs771935213 CA8044023 COSM1172334	340	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8044022 rs778915183	340	R>H		No	ClinGen ExAC TOPMed gnomAD
CA395823407 rs1250177980	341	V>L		No	ClinGen gnomAD
rs1250177980 CA395823403	341	V>M		No	ClinGen gnomAD
CA280259121 rs368863435	342	T>N		No	ClinGen ESP TOPMed
CA395823388 rs1204406035	342	T>S		No	ClinGen gnomAD
CA8044021 rs778670373	343	S>N		No	ClinGen ExAC gnomAD
rs754563097 CA8044020	344	E>G		No	ClinGen ExAC gnomAD
rs1232477141 CA395823337	348	C>W		No	ClinGen gnomAD
TCGA novel	352	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1302184622 CA395823308	353	K>E		No	ClinGen gnomAD
rs554432052 CA8044017	354	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779424873 CA8044018	354	M>L		No	ClinGen ExAC gnomAD
CA8044015 rs534254215	357	W>*		No	ClinGen 1000Genomes ExAC gnomAD
CA8044014 rs763261434	357	W>*		No	ClinGen ExAC gnomAD
rs763261434 CA395823275	357	W>C		No	ClinGen ExAC gnomAD
CA8044016 rs752001689	357	W>R		No	ClinGen ExAC gnomAD
rs150392452 CA8044013	358	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	359	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141417535 CA8044012	359	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs201123840 CA280259084	360	P>A		No	ClinGen 1000Genomes
rs759667730 CA8044011	362	A>G		No	ClinGen ExAC gnomAD
rs1275368556 CA395823247	362	A>T		No	ClinGen gnomAD
TCGA novel	363	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395823242 rs1247800313	363	K>Q		No	ClinGen gnomAD
TCGA novel	364	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776842435 CA8044010	365	I>T		No	ClinGen ExAC gnomAD
CA395823220 rs1207384477	366	E>K		No	ClinGen gnomAD
rs770852929 CA8044009	367	D>N		No	ClinGen ExAC gnomAD
CA395823186 rs1596796157	369	R>I		No	ClinGen Ensembl
rs1229108795 CA395823164	372	E>G		No	ClinGen gnomAD
CA395823160 rs1331302097	373	R>G		No	ClinGen gnomAD
rs1290186022 CA395823149	374	K>R		No	ClinGen TOPMed gnomAD
rs760632907 CA8043988	378	K>R		No	ClinGen ExAC gnomAD
CA280258920 rs377586143	379	C>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs988024160 CA280258929	379	C>R		No	ClinGen TOPMed
rs1211573306 CA395823116	379	C>Y		No	ClinGen TOPMed
rs552749952 CA8043986	380	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1457346640 CA395823085	384	S>C		No	ClinGen TOPMed gnomAD
CA395823082 rs1390198337	384	S>I		No	ClinGen gnomAD
CA395823084 rs1390198337	384	S>N		No	ClinGen gnomAD
CA8043984 rs373909179	386	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1369480756 CA395823068	387	S>G		No	ClinGen TOPMed gnomAD
rs768277235 CA8043983	387	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1476508476 CA395823063	387	S>R		No	ClinGen TOPMed
rs1163118050 CA395823061	388	I>V		No	ClinGen TOPMed
rs369153671 CA8043982	389	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs369153671 CA280258897	389	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs774961255 CA8043981	391	F>L		No	ClinGen ExAC gnomAD
CA395823031 rs1290290523	392	I>M		No	ClinGen TOPMed
CA395823000 rs1271340802	397	A>G		No	ClinGen TOPMed gnomAD
rs1466366248 CA395823005	397	A>T		No	ClinGen gnomAD
CA8043978 COSM970983 rs374130441	399	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA8043975 rs748591683	401	W>*		No	ClinGen ExAC TOPMed gnomAD
rs748591683 CA395822975	401	W>C		No	ClinGen ExAC TOPMed gnomAD
rs779351943 CA8043974	402	V>L		No	ClinGen ExAC gnomAD
rs754121234 CA8043972	404	I>L		No	ClinGen ExAC TOPMed gnomAD
CA395822948 COSM970982 rs1239984451	406	T>A	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1366843609 CA395822911	409	K>N		No	ClinGen gnomAD
CA8043971 rs766550770	410	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1404197906 CA395822851	413	T>I		No	ClinGen gnomAD
CA395822844 rs1392106711	414	A>T		No	ClinGen gnomAD
rs201784880 CA8043970	414	A>V	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA280258843 rs1005170425	416	M>V		No	ClinGen TOPMed gnomAD
CA8043943 rs545225150	417	A>D		No	ClinGen 1000Genomes ExAC
CA8043942 rs545225150	417	A>G		No	ClinGen 1000Genomes ExAC
CA8043940 rs181307743	420	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8043939 rs181307743 COSM1283177	420	M>V	Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA395822319 rs1318534059	422	A>V		No	ClinGen TOPMed gnomAD
COSM1684851 CA280257924 rs867051558	423	S>F	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA280257926 rs1001416655	423	S>P		No	ClinGen TOPMed gnomAD
CA395822260 rs1489218766	426	L>P		No	ClinGen TOPMed
rs375175696 COSM1181323 CA280257904	428	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
rs769103104 CA8043937	428	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1183435027 CA395822207	430	S>L		No	ClinGen TOPMed
rs780294017 CA8043935	431	V>G		No	ClinGen ExAC gnomAD
CA8043934 COSM970980 rs367812945	432	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs746123150 CA8043933	433	F>L		No	ClinGen ExAC gnomAD
rs79436893 CA280257889	434	V>L		No	ClinGen ExAC gnomAD
CA8043932 rs79436893	434	V>M		No	ClinGen ExAC gnomAD
rs1235512664 CA395822145	435	P>S		No	ClinGen gnomAD
CA8043931 rs757527308	436	I>T		No	ClinGen ExAC gnomAD
rs1209096877 CA395822128	436	I>V		No	ClinGen gnomAD
CA8043929 rs143771722	440	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8043930 rs143771722	440	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA280257879 rs1044115137	441	L>P		No	ClinGen TOPMed gnomAD
COSM2150935 rs148839428 CA8043927	442	T>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8043928 rs148839428	442	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765043569 CA8043926	443	N>I		No	ClinGen ExAC gnomAD
rs766070729 CA8043923	448	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1354047125 CA395822050	448	V>M		No	ClinGen gnomAD
CA280257845 rs947046151	450	R>K		No	ClinGen Ensembl
CA395822029 rs1449157352	451	F>L		No	ClinGen gnomAD
rs755733304 CA8043902	453	K>*		No	ClinGen ExAC TOPMed gnomAD
rs1228044759 CA395821992	454	F>S		No	ClinGen gnomAD
rs761426699 CA8043899	455	F>V		No	ClinGen ExAC TOPMed gnomAD
CA395821979 rs1244872501	456	L>V		No	ClinGen gnomAD
CA395821968 rs147615978	457	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760113131 CA8043895	458	E>D		No	ClinGen ExAC TOPMed gnomAD
CA8043896 rs765900390	458	E>K		No	ClinGen ExAC gnomAD
rs1437122334 CA395821962	458	E>V		No	ClinGen gnomAD
CA395821947 rs1428811478	460	P>L		No	ClinGen gnomAD
CA395821952 rs1166516789	460	P>T		No	ClinGen gnomAD
rs771272273 COSM1749620 CA8043892	462	F>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8043890 rs773448029	463	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA395821933 rs747220779	463	Y>D		No	ClinGen ExAC TOPMed gnomAD
CA8043891 rs747220779	463	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA8043887 rs548707998	466	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754976644 CA395821905	467	L>*		No	ClinGen ExAC TOPMed gnomAD
rs754976644 CA8043886	467	L>S		No	ClinGen ExAC TOPMed gnomAD
CA395821889 rs1596782931	469	D>V		No	ClinGen Ensembl
rs755897386 CA8043883	470	P>H		No	ClinGen ExAC gnomAD
rs755897386 CA8043884	470	P>L		No	ClinGen ExAC gnomAD
CA8043885 rs749164681	470	P>S		No	ClinGen ExAC TOPMed gnomAD
rs750153306 CA8043882	471	S>N		No	ClinGen ExAC gnomAD
rs868029279 CA280256727	471	S>R		No	ClinGen Ensembl
rs1231333594 CA395821872	472	K>I		No	ClinGen gnomAD
CA395821868 rs1311739744	473	A>P		No	ClinGen TOPMed gnomAD
CA395821867 rs1311739744	473	A>S		No	ClinGen TOPMed gnomAD
rs903153054 CA280256726	474	L>V		No	ClinGen Ensembl
CA395821855 rs1220976591	475	V>A		No	ClinGen gnomAD
rs1302076199 CA395821857	475	V>F		No	ClinGen gnomAD
TCGA novel	476	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA280256725 rs377477519	478	E>D		No	ClinGen ESP
rs1347345642 CA395821833	478	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs756843557 CA8043881	479	A>P		No	ClinGen ExAC TOPMed gnomAD
rs756843557 CA8043880	479	A>T		No	ClinGen ExAC TOPMed gnomAD
rs763628247 CA395821826	480	T>A		No	ClinGen ExAC TOPMed gnomAD
CA8043878 rs763628247	480	T>P		No	ClinGen ExAC TOPMed gnomAD
CA8043876 rs567749616	481	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs149705041 CA8043877	481	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA280256679 rs947762194	481	L>S		No	ClinGen TOPMed
TCGA novel CA395821805 rs1434351165	483	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
rs186995700 CA8043875	483	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761146571 CA8043874	483	W>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	484	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395821800 rs1410467090	484	Q>R		No	ClinGen gnomAD
TCGA novel	485	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395821785 rs1273819376	486	T>N		No	ClinGen TOPMed
TCGA novel	488	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395821769 rs1483625036	488	P>L		No	ClinGen TOPMed gnomAD
CA8043871 rs762021166	489	G>E		No	ClinGen ExAC gnomAD
rs200822502 CA8043872	489	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000959760 CA8043868 rs59815620	491	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs769592124 CA8043866	492	N>S		No	ClinGen ExAC gnomAD
TCGA novel	493	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395821738 rs745733454	494	A>S		No	ClinGen ExAC TOPMed gnomAD
rs745733454 CA8043865	494	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8043864 rs780843835	494	A>V		No	ClinGen ExAC gnomAD
rs544997672 CA280256616	496	E>G		No	ClinGen Ensembl
CA395821703 rs1427691956	500	N>H		No	ClinGen TOPMed
CA395821695 rs377008966 CA8043859	501	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1473213618 CA395821688	502	H>Y		No	ClinGen gnomAD
rs1210110250 CA395821682	503	A>T		No	ClinGen TOPMed gnomAD
rs767710531 CA8043855	507	M>I		No	ClinGen ExAC gnomAD
CA8043856 rs750870455	507	M>V		No	ClinGen ExAC TOPMed gnomAD
rs762043436 CA8043854	508	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	510	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395821636 rs374002009	510	P>S		No	ClinGen ESP ExAC gnomAD
CA8043852 rs374002009	510	P>T		No	ClinGen ESP ExAC gnomAD
CA395821621 rs1360934922	512	D>G		No	ClinGen gnomAD
CA395821614 rs1341587513	513	A>D		No	ClinGen TOPMed
rs781052789 CA8043847	515	G>A		No	ClinGen ExAC gnomAD
CA8043848 rs202097972 CA8043849	515	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746691715 CA8043845	516	P>R		No	ClinGen ExAC gnomAD
rs564601493 CA8043846	516	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395821579 rs1225163888	519	E>A		No	ClinGen TOPMed
CA395821574 rs1454237629	520	G>R		No	ClinGen gnomAD
rs953477681 CA280256457	520	G>V		No	ClinGen TOPMed gnomAD
rs1454237629 CA395821572	520	G>W		No	ClinGen gnomAD
CA395821564 rs1362511154	521	N>I		No	ClinGen gnomAD
CA8043843 rs144136977	521	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395821559 rs1596781898	522	S>N		No	ClinGen Ensembl
CA395821555 rs1374489029	522	S>R		No	ClinGen TOPMed
rs752314120 CA8043842	524	G>D		No	ClinGen ExAC gnomAD
CA395821542 rs1387831563	525	P>S		No	ClinGen gnomAD
TCGA novel	527	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043840 rs756652053	528	H>L		No	ClinGen ExAC TOPMed gnomAD
CA8043841 rs139430625	528	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8043839 rs61742020	529	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA280256441 rs1000255465	531	N>S		No	ClinGen TOPMed gnomAD
rs1567525872 CA395821485	534	V>M		No	ClinGen Ensembl
CA395821473 rs767953732	536	K>E		No	ClinGen ExAC TOPMed gnomAD
COSM158799 rs767953732 CA8043838	536	K>Q	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8043819 rs757743647	537	G>R		No	ClinGen ExAC gnomAD
rs1481930924 CA395821442	538	M>I		No	ClinGen gnomAD
CA8043818 rs751987197	538	M>L		No	ClinGen ExAC gnomAD
rs752810531 CA8043815	539	M>I		No	ClinGen ExAC gnomAD
CA8043816 rs758657931	539	M>T		No	ClinGen ExAC TOPMed gnomAD
rs764374436 CA8043817	539	M>V		No	ClinGen ExAC gnomAD
CA8043813 rs529824818	543	C>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8043812 rs141265467	544	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8043811 rs766482339	545	N>S		No	ClinGen ExAC TOPMed gnomAD
VAR_048145 CA8043810 rs17822471	546	T>M	significantly decreased transport activity of DHEAS and estrone 3-sulfate; no effect on glycosylation; reduced ATP-dependent 5-FdUMP transport; no effect on plasma membrane localization [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs771938987 CA8043808	547	G>A		No	ClinGen ExAC gnomAD
rs747860523 CA8043807	548	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1343982247 CA395821318	550	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	550	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748804387 CA8043805	550	K>N		No	ClinGen ExAC gnomAD
rs779531495 CA8043803	551	S>N		No	ClinGen ExAC TOPMed gnomAD
CA395821288 TCGA novel rs1471518643	551	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs747456949 CA8043801	553	L>P		No	ClinGen ExAC gnomAD
rs538491450 CA280254849	555	S>P		No	ClinGen TOPMed gnomAD
CA395821221 rs1276004788	556	A>T		No	ClinGen gnomAD
CA395821184 rs1345072244	558	L>V		No	ClinGen gnomAD
CA395821162 rs1406931935	559	E>G		No	ClinGen gnomAD
rs1227080279	560	E>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA395821145 rs1365858213	560	E>G		No	ClinGen TOPMed
rs1285826984 CA395821154	560	E>Q		No	ClinGen gnomAD
rs779331504 CA395820972	561	M>L		No	ClinGen ExAC gnomAD
rs779331504 CA8043779	561	M>V		No	ClinGen ExAC gnomAD
rs139021058 CA8043777	562	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755163200 CA8043778	562	H>Y		No	ClinGen ExAC gnomAD
CA395820958 rs1402300785	563	L>V		No	ClinGen gnomAD
CA395820952 rs1567519326	564	L>I		No	ClinGen Ensembl
rs573922124 CA395820948	564	L>P		No	ClinGen TOPMed gnomAD
CA280253215 rs573922124	564	L>R		No	ClinGen TOPMed gnomAD
CA8043774 rs750505727	565	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1244560832 CA395820943	565	E>V		No	ClinGen gnomAD
CA8043773 rs202065564	567	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202065564 CA395820930	567	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1596762164 CA395820925	568	V>G		No	ClinGen Ensembl
rs763890068 CA395820928	568	V>L		No	ClinGen ExAC gnomAD
rs763890068 CA8043770	568	V>M		No	ClinGen ExAC gnomAD
rs1596762121 CA395820914	570	V>G		No	ClinGen Ensembl
rs775080991 CA8043768	571	Q>P		No	ClinGen ExAC gnomAD
CA395820909 rs775080991	571	Q>R		No	ClinGen ExAC gnomAD
CA395820902 rs1398034515	572	G>E		No	ClinGen TOPMed
rs1361889055 CA395820905	572	G>R		No	ClinGen gnomAD
rs571898857 CA8043767	575	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA280253145 rs944451441	575	A>V		No	ClinGen Ensembl
CA395820878 rs1434518730	576	Y>C		No	ClinGen gnomAD
rs759098000 CA8043766	577	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs977216749 CA280253139	581	A>P		No	ClinGen TOPMed
CA280253133 rs551691924	583	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8043763 rs748625776	584	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8043761 rs769018792	586	G>R		No	ClinGen ExAC TOPMed gnomAD
rs749556289 CA8043760	587	N>S		No	ClinGen ExAC gnomAD
CA280253102 rs1028645342	589	R>G		No	ClinGen TOPMed
rs1448409716 CA395820778	591	N>T		No	ClinGen gnomAD
CA8043758 rs756389374	592	I>L		No	ClinGen ExAC gnomAD
rs1306289035 CA395820761	594	M>V		No	ClinGen TOPMed
rs746007911 CA8043757	595	G>A		No	ClinGen ExAC gnomAD
CA395820744 rs1441782402	596	G>D		No	ClinGen gnomAD
rs781263618 COSM970975 CA8043754	597	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8043752 rs751465756	600	K>E		No	ClinGen ExAC gnomAD
CA280253051 rs994629552	601	A>S		No	ClinGen TOPMed
CA8043751 rs142338810 COSM1749619	602	R>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA280253050 rs142338810	602	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8043750 rs150443431	602	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA280251646 rs1033571619	603	Y>C		No	ClinGen TOPMed
CA8043730 rs754640095	605	Q>*		No	ClinGen ExAC gnomAD
CA8043728 rs765840731	606	V>A		No	ClinGen ExAC TOPMed gnomAD
CA395820102 rs765840731	606	V>G		No	ClinGen ExAC TOPMed gnomAD
CA8043729 rs753485327	606	V>M		No	ClinGen ExAC TOPMed gnomAD
rs760275938 CA8043727	607	L>P		No	ClinGen ExAC gnomAD
rs760275938 CA280251636	607	L>R		No	ClinGen ExAC gnomAD
rs1447874431 CA395820084	609	C>F		No	ClinGen TOPMed
rs913559629 CA280251635	610	C>R		No	ClinGen Ensembl
rs1168267654 CA395820064	612	L>R		No	ClinGen TOPMed
CA395820053 rs151310174	614	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8043725 rs151310174	614	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8043726 rs772580912	614	R>W		No	ClinGen ExAC TOPMed gnomAD
rs763483421 CA8043724	615	D>E		No	ClinGen ExAC gnomAD
rs1483014025 CA395820051	615	D>H		No	ClinGen gnomAD
rs1483014025 CA395820052	615	D>N		No	ClinGen gnomAD
rs1409463383 CA395820042	616	L>P		No	ClinGen gnomAD
rs1205593852 CA395820044	616	L>V		No	ClinGen gnomAD
CA395820034 rs1390679082	617	E>D		No	ClinGen TOPMed
CA395820040 rs1325612064	617	E>K		No	ClinGen TOPMed gnomAD
CA8043722 rs776006762	618	L>F		No	ClinGen ExAC gnomAD
CA395820028 rs1317287864	618	L>R		No	ClinGen gnomAD
rs547775542 CA280251610	619	L>P		No	ClinGen TOPMed
rs746107161 COSM1709130 CA8043720	620	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA395820006 rs1336855601	622	G>E		No	ClinGen gnomAD
rs771034748 CA8043718	623	D>G		No	ClinGen ExAC gnomAD
CA395819994 rs1227130941	624	M>T		No	ClinGen TOPMed
CA280251596 rs903554036	624	M>V		No	ClinGen TOPMed
CA280251592 rs143069769	625	T>A		No	ClinGen ESP TOPMed gnomAD
rs945156497 CA280251587	626	E>A		No	ClinGen TOPMed
rs747172910 CA8043717	626	E>K		No	ClinGen ExAC TOPMed gnomAD
CA280290506 rs1009209470	629	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA395817724 rs1009209470	629	E>Q		No	ClinGen gnomAD
CA8043694 rs749170198	630	R>Q		No	ClinGen ExAC TOPMed gnomAD
VAR_077575 RCV000885772 rs41282045 CA8043695	630	R>W	no effect on glycosylation [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1476420557 CA395817711	631	G>D		No	ClinGen gnomAD
rs1027452907 CA280290498	631	G>S		No	ClinGen TOPMed gnomAD
CA395817703 rs1369625558	632	L>F		No	ClinGen TOPMed
CA395817705 rs1369625558	632	L>V		No	ClinGen TOPMed
rs1228000627 CA395817690	633	N>S		No	ClinGen TOPMed
rs755800220 CA8043692	634	L>F		No	ClinGen ExAC TOPMed gnomAD
rs780879969 CA8043690	635	S>A		No	ClinGen ExAC gnomAD
rs756867582 CA8043689	635	S>F		No	ClinGen ExAC gnomAD
rs759958087 CA8043686	636	G>E		No	ClinGen ExAC TOPMed gnomAD
rs199774602 CA8043687	636	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA395817664 rs759958087	636	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8043688 rs199774602	636	G>W		No	ClinGen 1000Genomes ExAC gnomAD
CA8043685 rs200339646	637	G>E		No	ClinGen ExAC TOPMed gnomAD
CA395817652 rs200339646	637	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1567512813 CA395817647	638	Q>*		No	ClinGen Ensembl
CA280290464 rs1036441919	638	Q>H		No	ClinGen Ensembl
rs139368339 CA8043684	639	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346621895 CA395817623	640	Q>*		No	ClinGen gnomAD
CA8043683 rs760981148	641	R>G		No	ClinGen ExAC gnomAD
CA395817613 rs1380043331	641	R>K		No	ClinGen TOPMed gnomAD
rs1194046908 CA395817575	645	A>T		No	ClinGen TOPMed
rs773385493 COSM703656 CA8043682	646	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs774404726 CA8043679	646	R>H		No	ClinGen ExAC TOPMed gnomAD
rs774404726 CA8043680	646	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8043681 rs774404726	646	R>P		No	ClinGen ExAC TOPMed gnomAD
COSM189715 CA8043677 rs200323911	647	A>T	lung large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA8043676 rs775374302	647	A>V		No	ClinGen ExAC gnomAD
CA395817549 rs1393044208	648	V>G		No	ClinGen TOPMed
rs16945930 VAR_048146 CA8043674	648	V>I	no effect on glycosylation; no effect on transport activity; no effect on plasma membrane localization [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8043673 rs781039330	649	Y>C		No	ClinGen ExAC gnomAD
rs746583345 CA8043671	651	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755522703 CA8043669	652	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8043668 rs374596906	652	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374596906 CA395817515	652	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs755522703 CA395817517	652	R>S		No	ClinGen ExAC TOPMed gnomAD
CA8043666 rs370988160	654	I>T		No	ClinGen ESP ExAC gnomAD
CA8043665 rs750766058	655	Y>*		No	ClinGen ExAC gnomAD
rs1271477687 CA395817484	655	Y>C		No	ClinGen TOPMed
CA395817474 rs1404215443	656	L>P		No	ClinGen gnomAD
rs774423260 CA8043662	659	D>E		No	ClinGen ExAC TOPMed gnomAD
CA395817444 rs1264035211	659	D>G		No	ClinGen TOPMed
rs761953570 CA8043663 COSM3421010	659	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8043661 rs764029698	660	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	661	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043658 rs201236247	663	A>S		No	ClinGen ExAC gnomAD
rs112416246 CA280290243	666	A>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs200200325 CA8043654 COSM1191842	668	V>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8043652 rs777367482	669	G>R		No	ClinGen ExAC gnomAD
rs757808061 CA395817363	670	K>R		No	ClinGen ExAC TOPMed gnomAD
CA8043651 rs757808061	670	K>T		No	ClinGen ExAC TOPMed gnomAD
CA8043650 rs747666995	671	H>L		No	ClinGen ExAC gnomAD
TCGA novel	672	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043649 rs780477875	673	F>S		No	ClinGen ExAC gnomAD
rs1446873933 CA395817333	674	E>G		No	ClinGen gnomAD
CA395817322 rs750857726	675	E>D		No	ClinGen ExAC gnomAD
CA395817321 rs1354563862	676	C>G		No	ClinGen gnomAD
CA395817313 rs1596743136	677	I>V		No	ClinGen Ensembl
TCGA novel	678	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043646 rs767808988	679	K>E		No	ClinGen ExAC gnomAD
rs757489355 CA8043645	680	T>I		No	ClinGen ExAC gnomAD
CA395817263 rs987332145	682	R>K		No	ClinGen Ensembl
CA280290190 rs987332145	682	R>M		No	ClinGen Ensembl
rs141457642 CA8043644	685	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043642 rs762989732	686	V>A		No	ClinGen ExAC gnomAD
TCGA novel	686	V>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395817192 rs1428556269	686	V>F		No	ClinGen gnomAD
CA395817182 rs1321349019	687	V>A		No	ClinGen TOPMed
VAR_048147 rs16945928 CA8043640	687	V>I	no effect on glycosylation [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA395817152 rs1348653795	690	T>A		No	ClinGen TOPMed
rs548719823 CA8043637	690	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA8043636 rs530379944	691	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772781329 CA8043634	692	Q>K		No	ClinGen ExAC gnomAD
rs376361583 CA8043633	692	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1489959707 CA395817112	693	L>P		No	ClinGen TOPMed gnomAD
CA395817113 rs1489959707	693	L>Q		No	ClinGen TOPMed gnomAD
CA280290069 rs749718692	694	Q>L		No	ClinGen Ensembl
rs143836185 CA8043610	695	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	697	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs138342031 CA8043608	697	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747398169 CA8043609	697	E>K		No	ClinGen ExAC gnomAD
CA395816858 rs950455922	698	F>L		No	ClinGen TOPMed
CA8043607 rs144834430	699	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA280288756 rs1041799161	700	G>A		No	ClinGen TOPMed
rs1288331924 CA395816849	700	G>S		No	ClinGen TOPMed
CA395816838 rs1354624902	701	Q>H		No	ClinGen gnomAD
CA395816833 rs1171822717	702	I>N		No	ClinGen gnomAD
CA8043605 rs566112391	703	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395816828 rs566112391	703	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA280288710 rs868018294	703	I>M		No	ClinGen Ensembl
CA395816829 rs566112391	703	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746731348 CA8043604	705	L>M		No	ClinGen ExAC TOPMed gnomAD
CA8043598 rs767288998	713	N>K		No	ClinGen ExAC gnomAD
CA395816724 rs1321359007	717	S>R		No	ClinGen TOPMed gnomAD
CA8043596 rs201239816	722	K>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395816656 rs1223957720	726	Y>*		No	ClinGen gnomAD
TCGA novel	727	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763711332 CA8043595	728	Q>*		No	ClinGen ExAC gnomAD
CA395816631 rs1596736127	730	I>T		No	ClinGen Ensembl
TCGA novel	732	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	732	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395816598 rs1449804824	734	H>L		No	ClinGen gnomAD
TCGA novel	734	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771432563 CA395816596	734	H>Q		No	ClinGen ExAC gnomAD
rs16945926 VAR_048148 CA8043590	735	K>R	no effect on glycosylation [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8043589 rs773472104	736	E>K		No	ClinGen ExAC gnomAD
rs1419932667 CA395816578	737	A>D		No	ClinGen gnomAD
CA395816580 rs1158754216	737	A>P		No	ClinGen gnomAD
rs150250426 CA8043588	739	S>L	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8043566 rs780307672	741	M>T		No	ClinGen ExAC gnomAD
rs749466564 CA8043567	741	M>V		No	ClinGen ExAC gnomAD
rs140866427 CA8043565	742	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8043562 rs757135919	745	T>A		No	ClinGen ExAC gnomAD
CA395816506 rs1246298573	746	A>E		No	ClinGen gnomAD
rs1403889221 CA395816493	748	I>T		No	ClinGen TOPMed gnomAD
CA8043561 rs75126314	748	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200499042 CA8043559	750	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs374269222 CA8043560	750	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	751	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395816475 rs1301620550	751	K>E		No	ClinGen gnomAD
CA280288351 rs917399302	751	K>N		No	ClinGen TOPMed gnomAD
CA395816439 rs1366385589	753	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	753	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA280288349 rs991848369	754	V>A		No	ClinGen Ensembl
CA8043557 rs201611590	758	A>G		No	ClinGen 1000Genomes ExAC
rs752306615 CA395816383	758	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8043558 rs752306615	758	A>S		No	ClinGen ExAC TOPMed gnomAD
rs752306615 CA395816385	758	A>T		No	ClinGen ExAC TOPMed gnomAD
CA395816361 rs1192378299	760	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs759137348 CA8043556	761	T>A		No	ClinGen ExAC gnomAD
rs960457342 CA280288332	761	T>I		No	ClinGen gnomAD
rs199502121 CA8043553	762	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199502121 CA8043554	762	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs753276448 CA8043555	762	S>P		No	ClinGen ExAC gnomAD
rs774873725 CA8043552	764	E>G		No	ClinGen ExAC gnomAD
rs769097533 CA8043551	765	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8043550 rs763374814	766	S>T		No	ClinGen ExAC gnomAD
rs775900414 CA8043549	767	L>F		No	ClinGen ExAC TOPMed gnomAD
COSM357249 rs775900414 CA395816280	767	L>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8043546 rs572706787	769	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs746023497 CA8043547 CA395816258	769	G>R		No	ClinGen ExAC TOPMed gnomAD
CA395816235 rs1346444070	771	A>T		No	ClinGen gnomAD
rs531997909 CA8043530	773	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1480680745 CA395815888	778	T>I		No	ClinGen gnomAD
CA395815869 rs1458705314	781	E>K		No	ClinGen gnomAD
CA280287038 COSM107582 rs149334541	782	E>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs544152488 CA8043527	783	M>I		No	ClinGen ExAC gnomAD
CA395815852 rs1462111345	783	M>T		No	ClinGen gnomAD
COSM970973 CA8043526 rs759617112	785	E>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs140234384 CA8043523	786	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs140234384 CA8043524	786	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs765235127 CA280287005	786	G>S		No	ClinGen gnomAD
rs140234384 CA8043525	786	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1314405147 CA395815826	787	S>F		No	ClinGen gnomAD
rs1380666109 CA395815830	787	S>P		No	ClinGen gnomAD
CA8043521 rs771984821	790	W>*		No	ClinGen ExAC gnomAD
CA395815792 rs1596728754	792	V>G		No	ClinGen Ensembl
CA395815778 rs1383866572	794	H>P		No	ClinGen gnomAD
CA8043518 rs267604559	795	H>D		No	ClinGen ExAC gnomAD
rs1431696846 CA395815771	795	H>R		No	ClinGen gnomAD
CA280286948 rs267604559	795	H>Y		No	ClinGen ExAC gnomAD
CA8043517 rs753386801	796	Y>D		No	ClinGen ExAC
CA395815744 rs1596728654	797	I>M		No	ClinGen Ensembl
rs1305172827 CA395815727	799	A>T		No	ClinGen TOPMed
CA8043515 rs755729800	801	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8043483 rs768585292	802	G>D		No	ClinGen ExAC gnomAD
CA395815058 rs1596721188	803	Y>N		No	ClinGen Ensembl
CA8043481 rs142212392	804	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424931821 CA395815028	805	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA280285050 rs925780109	806	S>C		No	ClinGen gnomAD
rs1287084860 CA395814979	808	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA280285046 rs149119656	810	F>L		No	ClinGen ESP gnomAD
rs144986317 CA8043478	811	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140765057 CA395814923	813	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140765057 CA8043476 RCV000879319	813	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1220296560 CA395814910	814	V>A		No	ClinGen TOPMed gnomAD
rs1187762330 CA395814916	814	V>M		No	ClinGen TOPMed
CA8043474 rs779301481	817	V>A		No	ClinGen ExAC gnomAD
rs746479478 CA8043475	817	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8043473 rs147271624	820	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	821	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780381082 CA8043471	823	S>N		No	ClinGen ExAC gnomAD
CA395814761 rs750609137	825	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750609137 CA8043469 COSM1679070	825	W>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1321732306 CA395814763	825	W>L		No	ClinGen TOPMed
rs1468640929 CA395814769	825	W>R		No	ClinGen gnomAD
rs1391549991 CA395814744	826	W>C		No	ClinGen TOPMed
CA395814707 rs1177181294	829	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs767682650 CA8043468	830	W>*		No	ClinGen ExAC TOPMed gnomAD
CA395814687 rs767682650	830	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1318125953 CA395814674	831	L>F		No	ClinGen TOPMed
rs751595128 CA8043466	832	E>A		No	ClinGen ExAC gnomAD
CA8043467 rs761817604	832	E>K		No	ClinGen ExAC TOPMed gnomAD
rs764007604 CA280284921	833	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA8043465 rs764007604	833	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA395814637 rs1282084950	834	G>D		No	ClinGen TOPMed
rs762937454 CA8043464	835	S>L		No	ClinGen ExAC TOPMed gnomAD
rs762937454 CA395814623	835	S>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8043463 rs775477282	836	G>R		No	ClinGen ExAC gnomAD
CA395814049 rs1596716669	837	T>P		No	ClinGen Ensembl
rs762841569 CA8043445	838	N>S		No	ClinGen ExAC TOPMed gnomAD
rs752713916 COSM970972 CA8043444	841	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765218887 CA8043443 COSM1290526	841	R>Q	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA395813957 rs1367893496	843	S>R		No	ClinGen gnomAD
CA280284169 rs954396768	844	N>H		No	ClinGen Ensembl
CA8043441 rs145491324	847	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043442 rs759417842	847	M>T		No	ClinGen ExAC gnomAD
CA8043440 rs575662559	851	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8043439 COSM189712 rs557262879	851	G>D	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs955701272 CA280284157	853	I>F		No	ClinGen TOPMed gnomAD
rs955701272 CA395813884	853	I>V		No	ClinGen TOPMed gnomAD
CA395813876 rs1314250001	854	A>E		No	ClinGen gnomAD
CA8043436 rs747614453	855	D>E		No	ClinGen ExAC gnomAD
CA395813869 rs1355031068	855	D>G		No	ClinGen gnomAD
rs780558448 CA8043435	856	N>S		No	ClinGen ExAC gnomAD
CA395813854 rs1474926994	857	P>L		No	ClinGen TOPMed
CA395813799 rs1468910122	862	Y>F		No	ClinGen TOPMed
CA280284149 rs376087167	863	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043432 rs376087167	863	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043428 rs758573602	867	G>A		No	ClinGen ExAC gnomAD
CA8043429 rs373133708	867	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043425 rs754961101	869	N>K		No	ClinGen ExAC TOPMed gnomAD
rs752766989 CA8043427	869	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8043424 rs181838761	870	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1478017057 CA395813681	872	L>F		No	ClinGen TOPMed gnomAD
CA280284070 rs868801179	872	L>P		No	ClinGen Ensembl
rs1196840400 CA395813658	874	I>V		No	ClinGen gnomAD
CA8043421 rs190306616	875	C>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	876	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236695582 CA395813613	877	G>V		No	ClinGen TOPMed
CA280284026 rs567458606	879	C>R		No	ClinGen gnomAD
CA8043419 rs761322031	880	S>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	881	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567500856 CA395813542	881	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1219707168 CA395813528	883	I>V		No	ClinGen gnomAD
TCGA novel	884	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs12443685 CA8043418	886	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1596716111 CA395813463	886	K>Q		No	ClinGen Ensembl
rs949377943 CA280283984	887	V>I		No	ClinGen Ensembl
rs200992288 CA8043416	888	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1331860917 CA395813404	889	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	891	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043414 rs771360166	891	A>V		No	ClinGen ExAC gnomAD
CA395813324 rs1330586888	892	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8043411 rs549484746	893	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA
CA8043412 rs778071057	893	T>P		No	ClinGen ExAC gnomAD
CA280283965 rs1055595970	894	A>T		No	ClinGen TOPMed gnomAD
rs779122178 CA8043409	896	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	897	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043408 rs755014116	898	K>E		No	ClinGen ExAC gnomAD
CA395813211 rs1200447326	899	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA395813169 rs753775700	901	N>D		No	ClinGen ExAC TOPMed gnomAD
rs753775700 CA8043407	901	N>H		No	ClinGen ExAC TOPMed gnomAD
rs766184321 CA8043406	901	N>S		No	ClinGen ExAC gnomAD
TCGA novel	902	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773761656 CA8043378	905	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8043377 rs375180799	905	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs762227083 CA395812287	906	C>*		No	ClinGen ExAC gnomAD
rs1191900501 CA395812279	907	P>T		No	ClinGen gnomAD
rs1264139210 CA395812260	908	M>I		No	ClinGen gnomAD
rs371869786 CA395812270	908	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043375 rs371869786	908	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA280280027 rs1055640422	909	S>G		No	ClinGen Ensembl
CA8043374 rs143346912	909	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	910	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1221238727 CA395812218	911	F>S		No	ClinGen TOPMed
rs1289171399 CA395812209	912	D>Y		No	ClinGen gnomAD
TCGA novel	913	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395812187 rs1227697484	913	T>I		No	ClinGen gnomAD
CA395812196 rs1243073216	913	T>P		No	ClinGen TOPMed
rs966893173 CA280280025	917	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM287142 rs769822967 CA8043371	918	R>Q	ovary Variant assessed as Somatic; 0.0 impact. NS large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs139927866 CA8043373	918	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	919	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1401388568 CA395812133	922	C>R		No	ClinGen gnomAD
CA395812118 rs138453043	924	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043368 rs138453043	924	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs138453043 CA8043367 COSM1563104	924	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs757983517 CA8043365	925	G>A		No	ClinGen ExAC gnomAD
CA8043366 rs757983517	925	G>E		No	ClinGen ExAC gnomAD
CA395812088 rs79875006	928	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1169044667 CA395812095	928	E>K		No	ClinGen gnomAD
CA8043362 rs764631134	930	L>P		No	ClinGen ExAC TOPMed gnomAD
CA395812069 rs189467834	931	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395812047 rs1246235678	934	L>F		No	ClinGen gnomAD
rs1354795284 CA395812045	935	P>S		No	ClinGen TOPMed
CA8043359 rs768086033	936	I>V		No	ClinGen ExAC gnomAD
rs922058695 CA280279970	937	F>S		No	ClinGen TOPMed
CA8043358 rs55713504	938	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1490713381 CA395811993	943	V>I		No	ClinGen TOPMed gnomAD
rs1159134968 CA395811964	946	L>F		No	ClinGen TOPMed
rs559803411 CA8043356	946	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA280279923 rs1015571308	947	M>I		No	ClinGen TOPMed gnomAD
rs758894044 CA280279918	949	I>V		No	ClinGen Ensembl
rs983737712 CA280279912	950	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1436540950 CA395811926	950	A>V		No	ClinGen gnomAD
CA8043353 rs201181092	951	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8043352 rs745915376	952	L>P		No	ClinGen ExAC TOPMed gnomAD
rs138369671 CA280279864	954	I>T		No	ClinGen ESP TOPMed
rs770790668 CA8043350	955	V>A		No	ClinGen ExAC gnomAD
CA8043351 rs150094014	955	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	956	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395811816 rs1479046960	961	Y>C		No	ClinGen gnomAD
CA395811819 rs1191905527	961	Y>H		No	ClinGen gnomAD
rs1236359946 CA395811794	963	L>P		No	ClinGen gnomAD
CA395811791 rs1267906464	964	L>I		No	ClinGen TOPMed
rs1323717629 CA395811761	966	G>E		No	ClinGen TOPMed
TCGA novel	967	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	969	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1260689754 CA395811716	970	M>I		No	ClinGen TOPMed
VAR_077576 CA8043347 RCV000963344 rs41280943	970	M>V	no effect on glycosylation [UniProt]	No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA280279822 rs765294261	976	Y>*		No	ClinGen Ensembl
CA395811636 rs1258501592	976	Y>C		No	ClinGen gnomAD
rs1343894167 CA395811506	979	M>K		No	ClinGen TOPMed
rs754590465 CA8043325	979	M>V		No	ClinGen ExAC gnomAD
CA280279573 rs973480626	980	F>L		No	ClinGen gnomAD
TCGA novel	981	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043323 rs748870332	984	I>F		No	ClinGen ExAC gnomAD
CA8043321 rs757882968 COSM1165816	985	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1261913795 CA395811264	994	S>N		No	ClinGen gnomAD
CA395811252 rs761021001	995	R>G		No	ClinGen ExAC TOPMed gnomAD
rs59029650 CA8043317	995	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1378036 CA8043318 rs761021001	995	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs753039960 CA8043316	996	S>P		No	ClinGen ExAC gnomAD
TCGA novel	1000	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765445951 CA8043315	1002	I>F		No	ClinGen ExAC TOPMed gnomAD
rs1297815244 CA395811079	1004	N>S		No	ClinGen TOPMed gnomAD
rs1338791825 CA395811084	1004	N>Y		No	ClinGen gnomAD
CA8043314 rs759741868	1005	S>P		No	ClinGen ExAC gnomAD
CA8043313 rs200790855	1006	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760705007 CA8043311	1008	G>D		No	ClinGen ExAC gnomAD
CA8043312 rs766414699	1008	G>S		No	ClinGen ExAC TOPMed gnomAD
CA395811012 rs1476065105	1010	S>N		No	ClinGen gnomAD
CA395811015 rs1165290126	1010	S>R		No	ClinGen TOPMed gnomAD
CA8043308 rs761515169	1011	S>F		No	ClinGen ExAC TOPMed gnomAD
CA8043307 rs774189160	1013	H>Q		No	ClinGen ExAC
CA395810971 rs1308015523	1014	V>I		No	ClinGen TOPMed
rs748923651 CA8043305	1015	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8043306 rs370070344	1015	Y>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA395810923 rs1263257431	1018	T>I		No	ClinGen gnomAD
rs778150422 CA8043301	1020	D>G		No	ClinGen ExAC TOPMed gnomAD
CA8043302 rs778150422	1020	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1330092106 CA395810889	1021	F>S		No	ClinGen TOPMed
CA8043300 rs758939546	1022	I>T		No	ClinGen ExAC gnomAD
CA280279314 rs894131318	1023	S>N		No	ClinGen TOPMed
TCGA novel	1024	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA280275028 rs1034794974	1026	K>R		No	ClinGen Ensembl
CA8043285 rs769508243	1028	L>R		No	ClinGen ExAC gnomAD
rs1003361629 CA280275026	1028	L>V		No	ClinGen Ensembl
rs1335954608 CA395810183	1031	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs111447063 CA8043282	1033	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs111447063 CA395810154	1033	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA395810134 rs1330480994	1034	N>S		No	ClinGen gnomAD
CA8043279 rs755356599	1038	L>W		No	ClinGen ExAC TOPMed gnomAD
rs780258264 CA8043276	1042	S>F		No	ClinGen ExAC gnomAD
CA8043275 rs374870876	1044	R>*		No	ClinGen ESP ExAC gnomAD
CA8043274 rs757178923	1044	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8043272 rs757178923	1044	R>P		No	ClinGen ExAC TOPMed gnomAD
CA8043273 rs757178923	1044	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs751541356 CA8043271	1045	W>G		No	ClinGen ExAC TOPMed gnomAD
rs751541356 CA395809963	1045	W>R		No	ClinGen ExAC TOPMed gnomAD
CA8043269 rs762850770	1046	M>I		No	ClinGen ExAC gnomAD
rs764068082 CA8043270	1046	M>L		No	ClinGen ExAC gnomAD
CA395809934 rs1254442170	1047	A>T		No	ClinGen gnomAD
TCGA novel	1049	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1567490520 CA395809889	1049	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA8043267 rs147832997	1050	L>R		No	ClinGen ESP ExAC
CA395809858 rs1345932077	1051	E>A		No	ClinGen gnomAD
rs1468054751 CA395809834	1052	I>T		No	ClinGen TOPMed
rs1282610257 CA395809849	1052	I>V		No	ClinGen gnomAD
CA8043266 rs533611008	1053	M>L		No	ClinGen ExAC TOPMed gnomAD
rs533611008 CA280274856 COSM1716984	1053	M>V	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770507620 CA8043265	1054	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8043264 rs770507620	1054	T>N		No	ClinGen ExAC TOPMed gnomAD
CA8043263 rs746453960	1055	N>K		No	ClinGen ExAC TOPMed gnomAD
CA395809701 rs893760233	1062	A>D		No	ClinGen Ensembl
CA8043262 rs200916685	1062	A>T		No	ClinGen ExAC gnomAD
CA280274838 rs893760233	1062	A>V		No	ClinGen Ensembl
rs1331894667 CA395809692	1064	F>L		No	ClinGen gnomAD
CA395809672 rs1175039961	1065	V>E		No	ClinGen TOPMed gnomAD
rs148539097 CA395809676	1065	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8043260 rs148539097 RCV000881261	1065	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1417315480 CA395809665	1066	A>S		No	ClinGen gnomAD
CA395809661 rs1379084469	1066	A>V		No	ClinGen TOPMed gnomAD
CA280274827 rs79462532	1068	G>C		No	ClinGen Ensembl
rs756337337 CA8043258	1070	S>C		No	ClinGen ExAC gnomAD
CA8043257 rs746068297	1072	T>A		No	ClinGen ExAC TOPMed gnomAD
rs113798535 CA280274812	1072	T>I		No	ClinGen TOPMed gnomAD
rs200450927 CA8043255	1073	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200450927 CA8043254	1073	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200450927 CA8043253	1073	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395809575 rs1334530319	1073	P>S		No	ClinGen TOPMed
rs758398419 CA8043252	1075	S>Y		No	ClinGen ExAC
rs1234514176 CA395809494	1077	K>Q		No	ClinGen gnomAD
CA8043249 rs759212381	1078	V>L		No	ClinGen ExAC TOPMed gnomAD
CA280274727 rs942841655	1079	M>L		No	ClinGen Ensembl
rs1334451597 CA395809445	1079	M>T		No	ClinGen TOPMed
rs1181723595 CA395809389	1082	N>S		No	ClinGen TOPMed gnomAD
CA395809367 rs760237053	1083	I>M		No	ClinGen ExAC gnomAD
CA8043247 rs765887874	1083	I>V		No	ClinGen ExAC gnomAD
rs553813897 CA8043245	1084	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs553813897 CA8043244 COSM3937074	1084	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA395809334 rs1596690182	1086	Q>*		No	ClinGen Ensembl
CA280274707 rs756291300	1086	Q>H		No	ClinGen Ensembl
rs139940513 CA280270906	1087	L>P		No	ClinGen ESP TOPMed gnomAD
CA8043217 rs376835882	1088	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1035729111 CA280270890	1089	S>C		No	ClinGen TOPMed gnomAD
CA280270892 rs951761115	1089	S>P		No	ClinGen Ensembl
rs1027427821 CA280270888	1091	F>C		No	ClinGen gnomAD
rs778102533 CA8043213	1092	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs772302755 CA8043212	1093	A>G		No	ClinGen ExAC gnomAD
CA8043211 rs748179775	1094	T>A		No	ClinGen ExAC gnomAD
CA8043210 rs778913041	1094	T>S		No	ClinGen ExAC gnomAD
CA280270814 rs778336662	1095	A>T		No	ClinGen Ensembl
CA8043209 rs547058756	1095	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs779688737 CA8043207 COSM189707	1096	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767597691 CA8043208 COSM3782957	1096	R>W	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA395808785 rs1381672869	1097	I>L		No	ClinGen TOPMed
CA280270788 rs201014491	1097	I>T		No	ClinGen 1000Genomes gnomAD
CA395808769 rs1273680690	1099	L>F		No	ClinGen gnomAD
CA395808773 rs1447450285	1099	L>S		No	ClinGen TOPMed
TCGA novel	1099	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1596673431 CA395808767	1100	E>Q		No	ClinGen Ensembl
TCGA novel	1102	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395808727 rs767105845	1105	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8043205 rs750104703	1105	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs139677111 CA8043202	1106	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8043203 rs143106046	1106	T>P		No	ClinGen ESP ExAC
rs765834198 CA8043201	1107	A>V		No	ClinGen ExAC TOPMed gnomAD
CA395808714 rs1482041811	1108	V>A		No	ClinGen TOPMed
rs372287881 CA8043200	1108	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1108	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043198 rs181009434	1109	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8043197 rs181009434	1109	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773583935 CA395808705	1110	R>G		No	ClinGen ExAC TOPMed gnomAD
CA280270735 rs1010891822	1110	R>S		No	ClinGen Ensembl
CA395808697 rs1443944350	1111	I>L		No	ClinGen gnomAD
rs1176614708 CA395808683	1113	Q>R		No	ClinGen gnomAD
rs893874540 CA280270700	1115	M>L		No	ClinGen TOPMed gnomAD
CA395808670 rs893874540	1115	M>V		No	ClinGen TOPMed gnomAD
rs748304146 CA8043194	1116	K>M		No	ClinGen ExAC gnomAD
rs907490070 CA280269910	1117	M>T		No	ClinGen Ensembl
CA8043180 rs568719377	1118	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1283201856 CA395808044	1118	C>F		No	ClinGen TOPMed gnomAD
rs761123406 CA8043179	1120	S>L		No	ClinGen ExAC TOPMed gnomAD
CA8043178 rs773706636	1122	A>T		No	ClinGen ExAC gnomAD
rs1186944863 CA395807991	1122	A>V		No	ClinGen TOPMed
CA8043177 rs767908449	1123	P>R		No	ClinGen ExAC gnomAD
CA8043176 rs761918114	1125	H>Y		No	ClinGen ExAC gnomAD
CA280269887 rs146373123	1126	M>V		No	ClinGen ESP TOPMed gnomAD
TCGA novel	1128	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768645355 CA8043174	1128	G>V		No	ClinGen ExAC TOPMed gnomAD
CA280269884 rs1023057976	1129	T>K		No	ClinGen TOPMed
rs749337499 CA8043173	1130	S>N		No	ClinGen ExAC gnomAD
rs775300874 CA8043172	1131	C>R		No	ClinGen ExAC TOPMed gnomAD
rs745724144 CA8043170	1132	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8043171 rs769721654	1132	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1135	W>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043166 rs756948208	1136	P>A		No	ClinGen ExAC TOPMed gnomAD
rs746672566 CA8043165	1137	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA8043164 rs777435399	1138	H>N		No	ClinGen ExAC TOPMed gnomAD
rs894873152 CA280269836	1138	H>R		No	ClinGen Ensembl
rs1053479240 CA280269828	1140	E>K		No	ClinGen TOPMed gnomAD
rs757861134 CA8043163	1142	I>V		No	ClinGen ExAC gnomAD
CA395807720 rs1431045143	1143	F>Y		No	ClinGen TOPMed gnomAD
CA395807696 rs1219920299	1145	D>N		No	ClinGen gnomAD
CA395807678 rs1334620985	1146	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA395807662 rs1294235550	1147	H>D		No	ClinGen gnomAD
TCGA novel	1148	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs936473292 CA280269803	1148	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1235401454 CA395807649	1148	M>V		No	ClinGen TOPMed gnomAD
CA8043162 rs752187256	1149	K>*		No	ClinGen ExAC TOPMed gnomAD
rs1042653391 CA280269793	1150	Y>C		No	ClinGen gnomAD
TCGA novel	1155	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141607865 CA8043160	1157	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043159 rs141607865	1157	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043158 rs767963296	1159	H>Y		No	ClinGen ExAC gnomAD
CA8043156 rs774455418	1160	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8043155 rs763012072	1161	I>L		No	ClinGen ExAC gnomAD
CA8043154 rs763012072	1161	I>V		No	ClinGen ExAC gnomAD
rs148224575 CA8043153	1163	L>V		No	ClinGen ESP ExAC
rs769775213 CA8043152	1165	I>V		No	ClinGen ExAC gnomAD
rs146149363 CA8043150	1166	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA280269726 rs374295166	1166	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA8043151 rs146149363	1166	R>S	Variant assessed as Somatic; 9.242e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs746761722 CA8043148	1167	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1190000726 CA395807428	1168	H>R		No	ClinGen gnomAD
rs771748765 CA8043146	1169	E>*		No	ClinGen ExAC gnomAD
CA395807409 rs747668188	1169	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1316354932 CA395807394	1171	V>M		No	ClinGen gnomAD
rs778543613 CA8043144	1172	G>D		No	ClinGen ExAC gnomAD
CA395807370 rs1299235495	1173	I>V		No	ClinGen TOPMed gnomAD
rs1370131641 CA395807357	1174	V>M		No	ClinGen TOPMed gnomAD
CA8043141 rs781743926	1175	G>E		No	ClinGen ExAC gnomAD
rs1393984875 COSM1324433 CA395807331	1176	R>K	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
COSM970967 CA8043140 rs757572924	1177	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1173299898 CA395807306	1178	G>D		No	ClinGen gnomAD
CA280269712 rs778118523	1178	G>S		No	ClinGen TOPMed gnomAD
rs764283805 CA8043138	1179	S>P		No	ClinGen ExAC
rs747583355 CA8043105	1182	S>C		No	ClinGen ExAC gnomAD
COSM1709126 rs1384858241 CA395807131	1183	S>F	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs758808759 CA8043103	1184	L>S		No	ClinGen ExAC TOPMed gnomAD
rs748448495 CA8043102	1186	M>V		No	ClinGen ExAC TOPMed gnomAD
CA395807060 rs1187534457	1189	F>S		No	ClinGen gnomAD
CA8043101 rs779176376	1190	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8043099 rs137950991	1190	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA395807049 rs137950991	1190	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8043100 rs137950991	1190	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766447136 CA8043098	1191	L>R		No	ClinGen ExAC gnomAD
CA395807012 rs756104102	1193	E>D		No	ClinGen ExAC TOPMed gnomAD
CA395807010 rs1250552128	1194	P>A		No	ClinGen TOPMed
rs201439095 CA8043096	1194	P>L		No	ClinGen ExAC gnomAD
rs1000175477 CA280268602	1195	M>I		No	ClinGen TOPMed
TCGA novel	1195	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043095 rs767299710	1195	M>T		No	ClinGen ExAC TOPMed gnomAD
CA395806998 rs1205574925	1195	M>V		No	ClinGen TOPMed gnomAD
CA395806954 rs369304577	1198	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369304577 CA8043092	1198	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8043093 rs761703910	1198	R>W		No	ClinGen ExAC TOPMed gnomAD
rs769368539 CA280268554	1203	G>C		No	ClinGen ExAC TOPMed gnomAD
CA8043087 rs745313037	1203	G>D		No	ClinGen ExAC TOPMed gnomAD
CA8043088 COSM1519140 rs769368539	1203	G>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA280268535 rs772566323	1204	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM3716936 rs772566323 CA8043085	1204	V>M	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1288958613 CA395806553	1206	I>T		No	ClinGen TOPMed
CA280268527 rs1007888116	1207	C>R		No	ClinGen TOPMed
rs1271174071 CA395806546	1207	C>Y		No	ClinGen TOPMed gnomAD
CA395806529 rs375441848	1209	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA395806532 rs1335291022	1209	I>S		No	ClinGen TOPMed
CA8043082 rs200782116	1210	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA8043081 rs749553070	1212	E>G		No	ClinGen ExAC gnomAD
rs1242716213 CA395806516	1212	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1466175381 CA395806511	1213	D>N		No	ClinGen gnomAD
CA8043080 rs572621805	1215	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs867492856 CA280268483	1215	R>W		No	ClinGen TOPMed gnomAD
rs200534357 CA280268464	1216	S>A		No	ClinGen Ensembl
TCGA novel	1216	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1242810131 CA395806482	1217	K>N		No	ClinGen TOPMed
TCGA novel	1217	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043078 rs202061562	1218	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043077 rs767556764	1218	L>H		No	ClinGen ExAC TOPMed gnomAD
CA395806480 rs202061562	1218	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043079 rs202061562	1218	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA395806470 rs1567476954	1220	V>M		No	ClinGen Ensembl
rs1212380305 CA395806463	1221	I>F		No	ClinGen gnomAD
TCGA novel	1221	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1321915426 CA395806450	1223	Q>*		No	ClinGen TOPMed gnomAD
CA395806436 rs757245403	1225	P>A		No	ClinGen ExAC gnomAD
TCGA novel	1225	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8043076 rs757245403	1225	P>T		No	ClinGen ExAC gnomAD
CA395806426 rs1168106196	1226	V>G		No	ClinGen Ensembl
CA395806430 rs1280935322	1226	V>L		No	ClinGen TOPMed gnomAD
CA395806431 rs1280935322	1226	V>M		No	ClinGen TOPMed gnomAD
CA8043074 rs764013076	1227	L>Q		No	ClinGen ExAC gnomAD
rs111697082 CA280268377	1229	S>*		No	ClinGen TOPMed
COSM137054 rs141466191 CA8043073	1230	G>E	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8043072 rs775222166	1231	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1397053132 CA395806401	1231	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1345541207 CA395806395	1232	I>N		No	ClinGen gnomAD
rs1168617506 CA395806399	1232	I>V		No	ClinGen gnomAD
rs1038251980 CA280268355	1233	R>T		No	ClinGen TOPMed
rs1341829391 CA395806078	1236	L>P		No	ClinGen TOPMed
CA8043052 rs765001590	1237	D>Y		No	ClinGen ExAC gnomAD
CA395806067 rs1470435254	1238	P>S		No	ClinGen gnomAD
CA8043051 rs374630838	1239	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8043050 rs147816016	1241	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs535746029 CA8043049	1241	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs535746029 CA8043048	1241	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA395806048 rs147816016	1241	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1261873200 CA395806044	1242	H>D		No	ClinGen TOPMed
rs1212264764 CA395806032	1243	T>I		No	ClinGen TOPMed gnomAD
rs1212264764 CA395806034	1243	T>S		No	ClinGen TOPMed gnomAD
CA8043047 rs145986516	1245	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145986516 CA280265383	1245	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1246	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775703492 CA8043044	1249	D>A		No	ClinGen ExAC TOPMed gnomAD
CA8043045 rs199710650	1249	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA
rs746109310 CA8043042	1252	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA8043040 rs771149938	1253	R>G		No	ClinGen ExAC gnomAD
rs748329065 CA280265317	1259	A>S		No	ClinGen TOPMed
CA395805924 rs1360810151	1259	A>V		No	ClinGen gnomAD
CA395805908 rs1486459676	1260	I>M		No	ClinGen gnomAD
CA395805897 rs1250342169	1262	K>R		No	ClinGen gnomAD
CA395805892 rs1470329533	1263	F>I		No	ClinGen TOPMed
CA280264600 rs754738967	1263	F>L		No	ClinGen ExAC TOPMed gnomAD
rs749012387 CA8043015	1264	P>L		No	ClinGen ExAC TOPMed gnomAD
CA395805851 rs1247193490	1269	T>A		No	ClinGen gnomAD
CA395805847 rs1404305430	1269	T>I		No	ClinGen TOPMed
CA8043013 rs755750414	1270	D>Y		No	ClinGen ExAC gnomAD
rs376920602 CA280264562	1271	V>G		No	ClinGen Ensembl
CA8043012 rs749983411	1271	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1408423807 CA395805835	1272	V>M		No	ClinGen TOPMed
CA8043009 rs148715549	1275	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8043006 rs75005894	1277	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8043007 rs61739606	1277	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777126246 CA8043005	1280	V>A		No	ClinGen ExAC gnomAD
CA395805739 rs1459082774	1280	V>M		No	ClinGen gnomAD
CA280264533 rs977443267	1281	G>E		No	ClinGen TOPMed gnomAD
rs1192236744 CA395805705	1283	R>K		No	ClinGen gnomAD
rs773530936 CA8043002	1283	R>W		No	ClinGen ExAC TOPMed gnomAD
CA395805694 rs1468332097	1284	Q>E		No	ClinGen gnomAD
rs1019035073 CA280264528	1286	L>I		No	ClinGen TOPMed
CA395805657 rs1349278454	1287	C>S		No	ClinGen gnomAD
CA8043001 rs201164805	1288	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1289	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395805616 rs1242151775	1291	A>P		No	ClinGen gnomAD
CA8043000 rs139771120	1294	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8042999 COSM970965 rs774156655	1294	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs768630336 CA8042998	1295	N>D		No	ClinGen ExAC gnomAD
rs749138326 CA8042997	1297	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1175840642 CA395804795	1299	I>L		No	ClinGen TOPMed
rs1596642277 CA395804784	1299	I>T		No	ClinGen Ensembl
CA280260703 rs983711092	1300	L>F		No	ClinGen Ensembl
CA395804746 rs1596642236	1301	I>T		No	ClinGen Ensembl
rs1174748693 CA395804737	1302	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1175073786 CA395804627	1308	I>F		No	ClinGen TOPMed
CA8042972 rs746552393	1308	I>T		No	ClinGen ExAC gnomAD
rs146352544 CA8042971	1310	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA395804562 rs1433540890	1312	T>R		No	ClinGen TOPMed
rs1596642087 CA395804484	1317	Q>*		No	ClinGen Ensembl
CA8042969 rs149406807	1318	R>C	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8042968 rs780646973	1318	R>H		No	ClinGen ExAC gnomAD
CA395804465 rs149406807	1318	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8042967 rs750790976	1319	T>I		No	ClinGen ExAC TOPMed gnomAD
CA8042966 rs750790976	1319	T>K		No	ClinGen ExAC TOPMed gnomAD
CA395804434 rs1202056451	1320	I>V		No	ClinGen gnomAD
rs751630465 CA8042964	1321	R>C		No	ClinGen ExAC gnomAD
rs751630465 CA8042963	1321	R>G		No	ClinGen ExAC gnomAD
CA8042962 rs762213795	1321	R>H		No	ClinGen ExAC gnomAD
rs751630465 CA280260613	1321	R>S		No	ClinGen ExAC gnomAD
CA395804381 rs1290969799	1323	A>D		No	ClinGen gnomAD
CA8042961 rs200426119	1324	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs775412372 CA8042960	1325	Q>E		No	ClinGen ExAC gnomAD
rs769720035 CA8042959	1325	Q>R		No	ClinGen ExAC gnomAD
rs759308100 CA8042958	1327	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1346048530 CA395804307	1327	C>Y		No	ClinGen TOPMed
rs372662316 CA8042956	1329	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1226887122 CA395804251	1330	L>F		No	ClinGen gnomAD
rs368759894 CA8042952	1331	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA280260563 rs368759894	1331	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs780769605 CA8042951	1333	A>T		No	ClinGen ExAC gnomAD
rs1239238209 CA395804164	1335	R>C		No	ClinGen TOPMed gnomAD
CA8042950 rs756671698	1335	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1469154883 CA395804143	1337	T>A		No	ClinGen TOPMed
CA8042949 rs746266093	1337	T>S		No	ClinGen ExAC TOPMed gnomAD
rs575077622 CA8042947	1341	N>K		No	ClinGen 1000Genomes ExAC gnomAD
CA395804043 rs1330855403	1342	C>Y		No	ClinGen gnomAD
CA8042946 rs751828079	1343	D>N		No	ClinGen ExAC TOPMed gnomAD
rs16945916 CA8042944 VAR_048149	1344	H>R	no effect on glycosylation; no effect on transport activity; no effect on plasma membrane localization [UniProt]	No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8042945 rs764235355	1344	H>Y		No	ClinGen ExAC gnomAD
CA8042943 rs752760386	1345	I>T		No	ClinGen ExAC gnomAD
CA395803853 rs1225939271	1350	N>S		No	ClinGen gnomAD
rs1026573005 CA280260496	1351	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	1351	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8042941 rs776396273	1352	K>N		No	ClinGen ExAC TOPMed gnomAD
CA8042942 rs371756889	1352	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA395803702 rs1596640961	1353	V>G		No	ClinGen Ensembl
CA8042913 rs771329111	1353	V>M		No	ClinGen ExAC TOPMed gnomAD
rs530694368 CA8042909	1358	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8042908 rs530694368	1358	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8042910 rs778082183	1358	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745638318 CA8042907	1359	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745638318 CA395803580	1359	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs753854830 CA8042905	1361	V>L		No	ClinGen ExAC TOPMed gnomAD
CA395803517 rs137883727	1363	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1185647784 CA395803512	1363	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs137883727 CA280260256	1363	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA280260253 rs202176796	1365	K>N		No	ClinGen TOPMed gnomAD
rs1373550662 CA395803434	1366	P>A		No	ClinGen gnomAD
rs551453524 CA8042903	1367	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA8042902 rs750280785	1368	S>T		No	ClinGen ExAC gnomAD
rs1470371372 CA395803360	1369	L>F		No	ClinGen TOPMed
CA280260246 rs969871843	1369	L>S		No	ClinGen Ensembl
CA8042900 rs200540970	1370	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8042898 rs139034695	1371	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA280260226 rs955971459	1372	A>V		No	ClinGen Ensembl
TCGA novel	1373	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA395803306 rs1485016284	1374	M>V		No	ClinGen gnomAD
CA280260204 rs919395604	1375	A>D		No	ClinGen TOPMed
rs774840600 CA8042896	1375	A>P		No	ClinGen ExAC gnomAD
rs1031649848 CA280260199	1376	T>I		No	ClinGen TOPMed gnomAD
CA8042894 rs202099188	1376	T>P		No	ClinGen ExAC gnomAD
rs1297834812 CA395803265	1377	A>D		No	ClinGen TOPMed
rs1282558496 CA395803227	1380	S>L		No	ClinGen gnomAD
CA8042892 rs369916527	1381	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1381	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q96J66

1 regional properties for Q96J66

Type	Name	Position	InterPro Accession
domain	Small GTP-binding protein domain	7 - 162	IPR005225

Functions

		Description
EC Number	7.6.2.2	Linked to the hydrolysis of a nucleoside triphosphate
Subcellular Localization	Cell membrane ; Multi-pass membrane protein Vacuole membrane Cytoplasmic vesicle membrane Apical cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
apical plasma membrane	The region of the plasma membrane located at the apical end of the cell.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to 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.
vacuolar membrane	The lipid bilayer surrounding the vacuole and separating its contents from the cytoplasm of the cell.

8 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 glutathione S-conjugate transporter activity	Catalysis of the reaction: ATP + H2O + glutathione S-conjugate(in) -> ADP + phosphate + glutathione S-conjugate(out).
ABC-type xenobiotic transporter activity	Catalysis of the reaction: ATP + H2O + xenobiotic(in) = ADP + phosphate + xenobiotic(out).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase-coupled inorganic anion transmembrane transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + inorganic anion(out) = ADP + phosphate + inorganic anion(in).
ATPase-coupled transmembrane transporter activity	Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
organic anion transmembrane transporter activity	Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage.
purine nucleotide transmembrane transporter activity	Enables the transfer of a purine nucleotide, any compound consisting of a purine nucleoside esterified with (ortho)phosphate, from one side of a membrane to the other.

6 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.
leukotriene transport	The directed movement of leukotrienes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Leukotrienes are linear C20 endogenous metabolites of arachidonic acid (icosa-5,8,11,14-tetraenoic acid) containing a terminal carboxy function and four or more double bonds (three or more of which are conjugated) as well as other functional groups.
organic anion transport	The directed movement of organic anions into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage.
purine nucleotide transport	The directed movement of a purine nucleotide, any compound consisting of a purine nucleoside esterified with (ortho)phosphate, into, out of or within a cell.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.
xenobiotic transport	The directed movement of a xenobiotic into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. 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.

26 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38735	VMR1	ABC transporter ATP-binding protein/permease VMR1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P0CE68	NFT1	ABC transporter NFT1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8HXQ5	ABCC1	Multidrug resistance-associated protein 1	Bos taurus (Bovine)	PR
Q2QLE5	CFTR	Cystic fibrosis transmembrane conductance regulator	Pan troglodytes (Chimpanzee)	PR
P91660	Rh5	Probable multidrug resistance-associated protein lethal(2)03659	Drosophila melanogaster (Fruit fly)	PR
O15438	ABCC3	ATP-binding cassette sub-family C member 3	Homo sapiens (Human)	PR
O95255	ABCC6	ATP-binding cassette sub-family C member 6	Homo sapiens (Human)	PR
Q92887	ABCC2	ATP-binding cassette sub-family C member 2	Homo sapiens (Human)	SS
P33527	ABCC1	Multidrug resistance-associated protein 1	Homo sapiens (Human)	PR
P13569	CFTR	Cystic fibrosis transmembrane conductance regulator	Homo sapiens (Human)	PR
O15439	ABCC4	ATP-binding cassette sub-family C member 4	Homo sapiens (Human)	PR
B2RX12	Abcc3	ATP-binding cassette sub-family C member 3	Mus musculus (Mouse)	PR
Q8VI47	Abcc2	ATP-binding cassette sub-family C member 2	Mus musculus (Mouse)	SS
P26361	Cftr	Cystic fibrosis transmembrane conductance regulator	Mus musculus (Mouse)	PR
O35379	Abcc1	Multidrug resistance-associated protein 1	Mus musculus (Mouse)	PR
Q80WJ6	Abcc12	ATP-binding cassette sub-family C member 12	Mus musculus (Mouse)	PR
Q6PQZ2	CFTR	Cystic fibrosis transmembrane conductance regulator	Sus scrofa (Pig)	PR
Q6Y306	Abcc12	ATP-binding cassette sub-family C member 12	Rattus norvegicus (Rat)	PR
Q8CG09	Abcc1	Multidrug resistance-associated protein 1	Rattus norvegicus (Rat)	PR
Q63120	Abcc2	ATP-binding cassette sub-family C member 2	Rattus norvegicus (Rat)	EV
Q00553	CFTR	Cystic fibrosis transmembrane conductance regulator	Macaca mulatta (Rhesus macaque)	PR
Q9SKX0	ABCC13	ABC transporter C family member 13	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C8H0	ABCC12	ABC transporter C family member 12	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C8G9	ABCC1	ABC transporter C family member 1	Arabidopsis thaliana (Mouse-ear cress)	PR
Q8VZZ4	ABCC6	ABC transporter C family member 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M1C7	ABCC9	ABC transporter C family member 9	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MTRKRTYWVP	NSSGGLVNRG	IDIGDDMVSG	LIYKTYTLQD	GPWSQQERNP	EAPGRAAVPP
70	80	90	100	110	120
WGKYDAALRT	MIPFRPKPRF	PAPQPLDNAG	LFSYLTVSWL	TPLMIQSLRS	RLDENTIPPL
130	140	150	160	170	180
SVHDASDKNV	QRLHRLWEEE	VSRRGIEKAS	VLLVMLRFQR	TRLIFDALLG	ICFCIASVLG
190	200	210	220	230	240
PILIIPKILE	YSEEQLGNVV	HGVGLCFALF	LSECVKSLSF	SSSWIINQRT	AIRFRAAVSS
250	260	270	280	290	300
FAFEKLIQFK	SVIHITSGEA	ISFFTGDVNY	LFEGVCYGPL	VLITCASLVI	CSISSYFIIG
310	320	330	340	350	360
YTAFIAILCY	LLVFPLAVFM	TRMAVKAQHH	TSEVSDQRIR	VTSEVLTCIK	LIKMYTWEKP
370	380	390	400	410	420
FAKIIEDLRR	KERKLLEKCG	LVQSLTSITL	FIIPTVATAV	WVLIHTSLKL	KLTASMAFSM
430	440	450	460	470	480
LASLNLLRLS	VFFVPIAVKG	LTNSKSAVMR	FKKFFLQESP	VFYVQTLQDP	SKALVFEEAT
490	500	510	520	530	540
LSWQQTCPGI	VNGALELERN	GHASEGMTRP	RDALGPEEEG	NSLGPELHKI	NLVVSKGMML
550	560	570	580	590	600
GVCGNTGSGK	SSLLSAILEE	MHLLEGSVGV	QGSLAYVPQQ	AWIVSGNIRE	NILMGGAYDK
610	620	630	640	650	660
ARYLQVLHCC	SLNRDLELLP	FGDMTEIGER	GLNLSGGQKQ	RISLARAVYS	DRQIYLLDDP
670	680	690	700	710	720
LSAVDAHVGK	HIFEECIKKT	LRGKTVVLVT	HQLQYLEFCG	QIILLENGKI	CENGTHSELM
730	740	750	760	770	780
QKKGKYAQLI	QKMHKEATSD	MLQDTAKIAE	KPKVESQALA	TSLEESLNGN	AVPEHQLTQE
790	800	810	820	830	840
EEMEEGSLSW	RVYHHYIQAA	GGYMVSCIIF	FFVVLIVFLT	IFSFWWLSYW	LEQGSGTNSS
850	860	870	880	890	900
RESNGTMADL	GNIADNPQLS	FYQLVYGLNA	LLLICVGVCS	SGIFTKVTRK	ASTALHNKLF
910	920	930	940	950	960
NKVFRCPMSF	FDTIPIGRLL	NCFAGDLEQL	DQLLPIFSEQ	FLVLSLMVIA	VLLIVSVLSP
970	980	990	1000	1010	1020
YILLMGAIIM	VICFIYYMMF	KKAIGVFKRL	ENYSRSPLFS	HILNSLQGLS	SIHVYGKTED
1030	1040	1050	1060	1070	1080
FISQFKRLTD	AQNNYLLLFL	SSTRWMALRL	EIMTNLVTLA	VALFVAFGIS	STPYSFKVMA
1090	1100	1110	1120	1130	1140
VNIVLQLASS	FQATARIGLE	TEAQFTAVER	ILQYMKMCVS	EAPLHMEGTS	CPQGWPQHGE
1150	1160	1170	1180	1190	1200
IIFQDYHMKY	RDNTPTVLHG	INLTIRGHEV	VGIVGRTGSG	KSSLGMALFR	LVEPMAGRIL
1210	1220	1230	1240	1250	1260
IDGVDICSIG	LEDLRSKLSV	IPQDPVLLSG	TIRFNLDPFD	RHTDQQIWDA	LERTFLTKAI
1270	1280	1290	1300	1310	1320
SKFPKKLHTD	VVENGGNFSV	GERQLLCIAR	AVLRNSKIIL	IDEATASIDM	ETDTLIQRTI
1330	1340	1350	1360	1370	1380
REAFQGCTVL	VIAHRVTTVL	NCDHILVMGN	GKVVEFDRPE	VLRKKPGSLF	AALMATATSS

LR