AiPD: Autoinhibited Protein Database

Q8N139

Gene name	ABCA6
Protein name	ATP-binding cassette sub-family A member 6
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23460
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

421-501 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

421-501 (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 Q8N139

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8N139-F1	Predicted				AlphaFoldDB

1384 variants for Q8N139

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA293352236 rs267605021 RCV002733000	1342	G>R	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1328058927 CA400838359	3	M>I		No	ClinGen gnomAD
rs561385580 CA293348603	3	M>K		No	ClinGen 1000Genomes ExAC gnomAD
CA8734915 rs561385580	3	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1416145951 CA400838362	3	M>V		No	ClinGen gnomAD
CA8734913 rs753896538	8	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs139259206 CA8734912	9	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
COSM395649 rs1295401931 CA400838306	10	Q>H	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs760849666 COSM383198 CA8734911	10	Q>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs941934648 CA293348587	12	T>I		No	ClinGen TOPMed
rs1475599269 CA400838280	14	A>G		No	ClinGen gnomAD
rs772267385 CA8734910	14	A>S		No	ClinGen ExAC TOPMed gnomAD
rs772267385 CA8734909	14	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8734907 rs774644532	17	C>R		No	ClinGen ExAC gnomAD
rs374718852 CA293348571	17	C>S		No	ClinGen gnomAD
rs374718852 CA400838266	17	C>Y		No	ClinGen gnomAD
CA400838260 rs1367974808	18	K>E		No	ClinGen TOPMed gnomAD
CA293348568 rs755397102	18	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1367974808 CA400838261	18	K>Q		No	ClinGen TOPMed gnomAD
CA8734906 rs771435786	19	N>D		No	ClinGen ExAC gnomAD
rs866307955 CA293348562	21	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs368598188 CA8734905	22	K>Q		No	ClinGen ESP ExAC
rs886190582 CA293348555	22	K>R		No	ClinGen TOPMed
CA400838217 rs1270931108	24	W>*		No	ClinGen gnomAD
rs1333680211 CA400838220	24	W>R		No	ClinGen TOPMed gnomAD
CA8734902 rs769457290	26	M>I		No	ClinGen ExAC gnomAD
rs777365997 CA8734903	26	M>R		No	ClinGen ExAC gnomAD
rs1278453797 CA400838194	27	K>R		No	ClinGen gnomAD
rs1439843431 CA400838189	28	R>*		No	ClinGen gnomAD
CA293348543 rs1047443903	28	R>I		No	ClinGen TOPMed gnomAD
CA8734901 rs747731697	29	E>D		No	ClinGen ExAC gnomAD
rs151236113 CA293348542	30	S>R		No	ClinGen ESP TOPMed
rs780907607 CA8734899	31	L>S		No	ClinGen ExAC gnomAD
rs757251104 CA8734875	33	E>D		No	ClinGen ExAC gnomAD
CA8734876 rs778810041	33	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8734874 rs752790559	34	W>C		No	ClinGen ExAC TOPMed gnomAD
CA293344654 rs868774170	35	G>C		No	ClinGen Ensembl
rs1325870790 CA400837382	35	G>V		No	ClinGen TOPMed gnomAD
CA8734873 rs767541055	37	S>*		No	ClinGen ExAC gnomAD
CA8734871 rs751757426	38	I>V		No	ClinGen ExAC TOPMed gnomAD
CA8734870 rs766780752	39	L>F		No	ClinGen ExAC TOPMed gnomAD
CA293344634 rs766780752	39	L>I		No	ClinGen ExAC TOPMed gnomAD
CA8734868 rs773766169	40	L>P		No	ClinGen ExAC TOPMed gnomAD
rs142271849 CA8734866	41	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1168691458 CA400837311	43	C>R		No	ClinGen gnomAD
CA400837284 rs1377860822	45	A>P		No	ClinGen gnomAD
rs1277063577 CA400837264	47	F>S		No	ClinGen TOPMed
CA8734864 rs768085207	48	S>P		No	ClinGen ExAC gnomAD
rs1417854213 CA400837253	49	S>G		No	ClinGen gnomAD
CA8734862 rs574115757	49	S>N		No	ClinGen ExAC gnomAD
rs771770109 CA8734861	50	S>F		No	ClinGen ExAC gnomAD
rs1186674132 CA400837238	51	M>T		No	ClinGen gnomAD
TCGA novel	52	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1484636635 CA400837223	53	N>S		No	ClinGen gnomAD
rs778719999 CA8734859	54	V>F		No	ClinGen ExAC gnomAD
rs755484001 CA8734858	55	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1306651917 CA400837208	55	Q>H		No	ClinGen gnomAD
rs749785697 CA293344605	57	P>S		No	ClinGen Ensembl
rs749203360 CA8734857	59	M>I		No	ClinGen ExAC gnomAD
CA400837174 rs1276414434	60	A>D		No	ClinGen TOPMed
CA293344602 rs981369606	61	P>L		No	ClinGen gnomAD
rs1341440645 CA400837171	61	P>S		No	ClinGen gnomAD
rs781289258 CA8734856	62	Q>*		No	ClinGen ExAC gnomAD
CA8734855 rs755015611	66	R>S		No	ClinGen ExAC gnomAD
rs1598068715 CA400837131	67	V>G		No	ClinGen Ensembl
CA400837134 rs1303898462	67	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	68	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400837119 rs1477422226	69	K>T		No	ClinGen gnomAD
CA8734854 rs751742345	71	N>I		No	ClinGen ExAC gnomAD
rs1264995661 CA400837087	73	S>C		No	ClinGen TOPMed
rs1025431703 CA400837066 CA400837067 CA293344592	76	M>I		No	ClinGen TOPMed gnomAD
rs780466636 CA293344595	76	M>K		No	ClinGen Ensembl
rs780406021 CA8734853	77	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1423957372 CA400837063	77	V>F		No	ClinGen gnomAD
TCGA novel	78	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750799887 CA8734851	79	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA8734852 rs758737078	79	Y>H		No	ClinGen ExAC
CA293344587 rs866441591	80	T>A		No	ClinGen Ensembl
CA8734850 rs765721385	80	T>I		No	ClinGen ExAC
CA8734849 rs762344231	81	P>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400837017 rs1182314878	82	I>V		No	ClinGen gnomAD
CA8734848 rs754307443	84	N>D		No	ClinGen ExAC gnomAD
rs1425100046 CA400836974	84	N>K		No	ClinGen TOPMed
rs1230962530 CA400836928	86	T>I		No	ClinGen gnomAD
CA8734847 rs200749369	88	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1160856796 CA400836901	88	Q>P		No	ClinGen TOPMed
CA8734846 rs552915557	91	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8734845 rs775048252	97	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8734825 rs572156656	101	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA400836684 rs1313549238	101	G>R		No	ClinGen gnomAD
CA400836108 rs1293587019	104	V>A		No	ClinGen gnomAD
rs1392512469 CA400836112	104	V>I		No	ClinGen gnomAD
rs978412661 CA293344141	105	I>T		No	ClinGen TOPMed
rs752179667 CA8734824	106	G>A		No	ClinGen ExAC gnomAD
rs553471103 CA8734822	107	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400836056 rs1191587511	109	N>H		No	ClinGen gnomAD
rs369172869 CA8734820	109	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA400836003 CA400836002 rs1204804751	112	H>Q		No	ClinGen TOPMed gnomAD
CA8734819 rs770697956	112	H>Y		No	ClinGen ExAC gnomAD
rs144588844 CA8734818	113	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1211825343 CA400835984	113	M>T		No	ClinGen TOPMed
CA8734817 rs773122770	114	D>G		No	ClinGen ExAC gnomAD
CA400835970 rs1288264162	114	D>N		No	ClinGen gnomAD
CA293344114 rs747009932	115	E>D		No	ClinGen TOPMed gnomAD
CA8734815 rs748120631 COSM983557	115	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8734814 rs775675636	116	I>V		No	ClinGen ExAC gnomAD
rs1020965793 CA293344109	117	L>I		No	ClinGen Ensembl
rs1598067139 CA400835832	124	A>T		No	ClinGen Ensembl
rs772286581 CA8734813	125	M>V		No	ClinGen ExAC gnomAD
rs1157623298 CA400835798	127	I>V		No	ClinGen TOPMed
COSM707469 CA400835780 COSM1646799 rs1413978747	128	I>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs746030440 CA8734812	130	N>S		No	ClinGen ExAC TOPMed gnomAD
rs778990359 CA400835727	131	E>*		No	ClinGen ExAC gnomAD
rs1420227325 CA400835712	131	E>G		No	ClinGen gnomAD
rs778990359 CA8734811	131	E>K		No	ClinGen ExAC gnomAD
rs201095936 CA8734810	132	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA400835682 rs1171489092	133	F>Y		No	ClinGen gnomAD
rs1568038055 CA627588747	136	K>*		No	ClinGen Ensembl
CA8734806 rs756562583	136	K>R		No	ClinGen ExAC TOPMed gnomAD
CA400835607 rs1598067029	138	I>L		No	ClinGen Ensembl
rs1265418440 CA400835572	140	F>S		No	ClinGen gnomAD
CA8734804 rs577290030	141	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	142	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400835549 rs1485620410	142	G>R		No	ClinGen gnomAD
rs754494465 CA8734802	144	N>I		No	ClinGen ExAC TOPMed gnomAD
CA293344066 rs752761059	144	N>K		No	ClinGen Ensembl
rs754494465 CA293344067	144	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8734801 rs751123895	145	S>R		No	ClinGen ExAC gnomAD
rs140469761 CA8734800	146	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400835498 rs140469761	146	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1037978646 CA293344062	148	W>*		No	ClinGen TOPMed gnomAD
rs762703776 CA8734799	150	E>K		No	ClinGen ExAC TOPMed
CA400835403 rs1476951371	152	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA400834808 rs1317089352	154	A>V		No	ClinGen TOPMed
rs1240597980 CA400834751	157	W>C		No	ClinGen TOPMed
CA400834675 rs1258399553	160	Y>*		No	ClinGen TOPMed
rs1282965690 CA400834683	160	Y>C		No	ClinGen gnomAD
TCGA novel	160	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	161	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749963428 CA8734761	162	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs757010757 CA8734759	165	C>G		No	ClinGen ExAC TOPMed
CA400834596 rs757010757	165	C>R		No	ClinGen ExAC TOPMed
CA293343299 rs537573064	166	T>A		No	ClinGen 1000Genomes
CA8734758 rs753666560	167	L>S		No	ClinGen ExAC gnomAD
CA400834449 rs1254728671	172	N>Y		No	ClinGen TOPMed
CA400834419 rs1325861414	173	R>S		No	ClinGen gnomAD
CA8734757 rs764004855	177	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1190357632 CA400834015	179	Q>*		No	ClinGen TOPMed
CA8734756 rs147168219	179	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs752682248 CA400833980	180	T>I		No	ClinGen ExAC TOPMed gnomAD
rs752682248 CA8734755	180	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1427726658 CA400833881	184	T>I		No	ClinGen gnomAD
CA400833850 rs766310936	186	I>F		No	ClinGen ExAC TOPMed
CA8734753 rs766310936	186	I>L		No	ClinGen ExAC TOPMed
CA8734751 rs773228141	187	I>M		No	ClinGen ExAC TOPMed gnomAD
CA8734752 rs374521369	187	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA293343277 rs1001119087	187	I>V		No	ClinGen TOPMed gnomAD
CA8734730 rs767481360	189	I>T		No	ClinGen ExAC gnomAD
rs917294962 CA400833526	191	T>A		No	ClinGen TOPMed
rs917294962 CA293342491	191	T>S		No	ClinGen TOPMed
rs1210612664 CA400833469	193	H>N		No	ClinGen gnomAD
rs1256347421 CA400833442	194	P>S		No	ClinGen gnomAD
rs765321464 CA8734727	195	V>L		No	ClinGen ExAC TOPMed gnomAD
CA400833399 rs1382042428	196	M>T		No	ClinGen gnomAD
rs137979565 CA8734725	196	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs201764380 CA8734724	198	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376074661 CA8734722	200	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs761100020 CA8734723	200	M>T		No	ClinGen ExAC gnomAD
rs1449163750 CA400833265	201	S>L		No	ClinGen TOPMed
CA8734721 rs772610574	204	A>T		No	ClinGen ExAC gnomAD
rs746384735 CA8734720	205	I>V		No	ClinGen ExAC gnomAD
CA400833182 rs1285648374	206	T>I		No	ClinGen gnomAD
rs773960260 CA8734719	207	M>T		No	ClinGen ExAC gnomAD
CA400833120 rs1381433506	209	T>R		No	ClinGen gnomAD
CA400833064 rs1568036252	211	P>R		No	ClinGen Ensembl
CA400832999 rs1421962517	213	I>L		No	ClinGen gnomAD
CA400832975 rs1415920932	213	I>M		No	ClinGen gnomAD
CA400832987 rs1568036229	213	I>T		No	ClinGen Ensembl
CA8734718 rs150728987	214	T>A		No	ClinGen ESP ExAC gnomAD
CA293342438 rs996388301	215	K>I		No	ClinGen TOPMed
TCGA novel	216	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs188382333 CA8734717	216	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8734716 COSM1385540 rs188382333	216	N>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA8734715 rs755784574	217	L>V		No	ClinGen ExAC gnomAD
COSM107702 rs143507770 CA293342401	218	L>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs747940939 CA293342395	218	L>H		No	ClinGen ExAC TOPMed gnomAD
CA8734714 rs747940939	218	L>P		No	ClinGen ExAC TOPMed gnomAD
rs780895079 CA8734713	219	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs754893206 CA8734712	220	N>D		No	ClinGen ExAC gnomAD
rs1219531346 CA400832868	220	N>S		No	ClinGen gnomAD
CA400832844 rs1323997113	221	E>D		No	ClinGen gnomAD
rs1339760041 CA400832850	221	E>G		No	ClinGen gnomAD
CA400832852 rs1445761287	221	E>K		No	ClinGen TOPMed gnomAD
rs974790774 CA293342373	222	M>I		No	ClinGen Ensembl
rs376153425 CA8734711	222	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1028127715 CA293342377	222	M>T		No	ClinGen TOPMed gnomAD
rs376153425 CA8734710	222	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8734709 rs757319881	223	F>C		No	ClinGen ExAC gnomAD
CA400832811 rs1312002328	223	F>L		No	ClinGen gnomAD
TCGA novel	226	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs891455184 CA293342350	227	F>Y		No	ClinGen TOPMed
CA8734707 rs753988877	228	L>F		No	ClinGen ExAC gnomAD
CA400832720 rs1292401770	228	L>V		No	ClinGen gnomAD
rs200179122 CA8734706	229	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439015498 CA400832671	230	H>R		No	ClinGen TOPMed gnomAD
CA8734704 rs760856528	232	S>F		No	ClinGen ExAC gnomAD
CA293342318 rs1019237557	233	P>A		No	ClinGen Ensembl
CA400832618 rs1351381773	233	P>L		No	ClinGen TOPMed
TCGA novel	233	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775876895 CA8734703	234	L>F		No	ClinGen ExAC gnomAD
CA400832600 rs1189726745	235	V>A		No	ClinGen gnomAD
TCGA novel	235	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266095033 CA400832583	236	Y>C		No	ClinGen TOPMed
COSM3701267 rs1266124923 CA400832553	238	I>M	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs767806474 CA8734702	238	I>V		No	ClinGen ExAC gnomAD
rs1193970995 CA400832548	239	S>*		No	ClinGen TOPMed
rs771258076 CA8734701	239	S>T		No	ClinGen ExAC gnomAD
CA400832532 rs1288572062	241	N>D		No	ClinGen gnomAD
rs141143358 CA8734700	241	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8734698 rs748803015	244	K>E		No	ClinGen ExAC gnomAD
rs1293678222 CA400832485	245	E>G		No	ClinGen gnomAD
rs772884126 CA400832490	245	E>K		No	ClinGen ExAC TOPMed gnomAD
CA8734697 rs772884126 COSM3820386	245	E>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA400832479 rs1598062931	246	R>G		No	ClinGen Ensembl
CA400832473 COSM983555 rs1031845895	246	R>I	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1031845895 CA293342284	246	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1160203298 CA400832448	248	K>R		No	ClinGen gnomAD
rs1376881426 CA400832435	249	S>C		No	ClinGen gnomAD
rs1420043730	249	S>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs747208174 CA293342279	251	N>S		No	ClinGen gnomAD
rs769462186 CA8734694	253	M>V		No	ClinGen ExAC gnomAD
TCGA novel	255	M>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400832363 rs1157600153	255	M>T		No	ClinGen TOPMed
CA8734693 rs747775790	256	M>T		No	ClinGen ExAC gnomAD
CA400832354 rs1268127816	256	M>V		No	ClinGen TOPMed gnomAD
CA8734692 rs778001650	257	G>C		No	ClinGen ExAC TOPMed gnomAD
rs778001650 CA400832347	257	G>S		No	ClinGen ExAC TOPMed gnomAD
CA8734691 rs754745012	259	Q>*		No	ClinGen ExAC gnomAD
rs746866632 CA8734689	260	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1254630470 CA400832327	260	D>Y		No	ClinGen gnomAD
TCGA novel	262	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779965555 CA8734688	263	F>V		No	ClinGen ExAC gnomAD
CA8734676 rs772725298	264	W>*		No	ClinGen ExAC TOPMed gnomAD
rs1398897196 CA400832301	264	W>R		No	ClinGen TOPMed gnomAD
rs1279549772 CA400831381	265	L>F		No	ClinGen gnomAD
rs1339852741 CA400831358	266	S>F		No	ClinGen gnomAD
CA293340212 rs966944197	267	W>*		No	ClinGen Ensembl
rs1049625660 CA293340210	268	G>V		No	ClinGen TOPMed gnomAD
rs191177679 CA293340201	272	A>T		No	ClinGen 1000Genomes
rs1402666197 CA400831228	273	G>V		No	ClinGen gnomAD
CA8734673 rs761473791	275	I>L		No	ClinGen ExAC gnomAD
rs1464263630 CA400831175	275	I>T		No	ClinGen gnomAD
CA293340195 rs771585701	277	I>V		No	ClinGen gnomAD
CA8734671 rs768367809	278	I>F		No	ClinGen ExAC gnomAD
CA400831108 rs768367809	278	I>L		No	ClinGen ExAC gnomAD
rs531506351 TCGA novel CA8734670	281	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA
CA400830995 rs1424711230	282	V>A		No	ClinGen gnomAD
VAR_027576 CA8734667 rs4968839	282	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8734668 rs4968839	282	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1237970782 CA400830985	283	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8734666 rs145148806	283	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	284	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	286	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752878292 CA8734664	286	I>V		No	ClinGen ExAC gnomAD
rs1195912471 CA400830878	287	T>I		No	ClinGen TOPMed gnomAD
rs199526362 CA8734662	288	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400830867 rs1339876158	288	F>L		No	ClinGen TOPMed
CA400830859 rs1339876158	288	F>V		No	ClinGen TOPMed
CA400830842 rs1246912841	289	T>A		No	ClinGen gnomAD
CA400830833 rs1383163950	289	T>I		No	ClinGen gnomAD
CA400830741 rs1404802707	292	I>M		No	ClinGen gnomAD
rs763511977 CA8734659	292	I>T		No	ClinGen ExAC gnomAD
rs1379460063 CA400830755	292	I>V		No	ClinGen gnomAD
CA400830736 rs1388701901	293	V>F		No	ClinGen gnomAD
rs372297043 CA8734658	294	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1598057394 CA400830707	294	M>V		No	ClinGen Ensembl
CA8734657 rs368916267	296	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8734656 rs199889249	296	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA293340136 rs141359667 CA400830597	298	M>I		No	ClinGen ESP TOPMed gnomAD
CA8734655 rs553506025	298	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA400830612 rs1264089473	298	M>V		No	ClinGen TOPMed
rs1598057304 CA400830591	299	V>G		No	ClinGen Ensembl
rs760343038 CA8734653	303	L>P		No	ClinGen ExAC gnomAD
CA400830471 rs1568033084	304	F>S		No	ClinGen Ensembl
rs945218615 CA293340110	306	L>*		No	ClinGen TOPMed gnomAD
rs750282619	306	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA293340125 rs1032698625	306	L>I		No	ClinGen Ensembl
rs750282619	306	L>Y	Variant assessed as Somatic; 0.0001412 impact. [NCI-TCGA]	No	NCI-TCGA
rs1261173048 CA400830407	307	Y>C		No	ClinGen TOPMed
rs759246154 CA400830234	312	V>I		No	ClinGen ExAC TOPMed gnomAD
CA8734629 rs759246154	312	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8734628 rs774241560	313	A>V		No	ClinGen ExAC gnomAD
rs1422673066 CA400830203	314	L>V		No	ClinGen TOPMed gnomAD
CA400830183 rs1229610645	315	V>L		No	ClinGen TOPMed
rs1369448070 CA400830172	316	F>I		No	ClinGen gnomAD
CA400830153 rs1287295404	316	F>L		No	ClinGen TOPMed
CA400830129 TCGA novel rs1480451091	318	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs754567769 CA293339669	319	S>N		No	ClinGen Ensembl
CA400830112 rs1005470168	319	S>R		No	ClinGen TOPMed
TCGA novel	321	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400830060 rs1439619207	323	K>E		No	ClinGen TOPMed gnomAD
CA400830018 rs1489270981	325	A>S		No	ClinGen gnomAD
CA400830010 rs1242476804	325	A>V		No	ClinGen gnomAD
rs776811173 CA8734624	326	V>L		No	ClinGen ExAC gnomAD
CA400829990 rs1180254260	327	L>F		No	ClinGen TOPMed
rs368337555 CA8734623	329	N>S		No	ClinGen ESP ExAC gnomAD
CA400829921 rs747168111	330	L>F		No	ClinGen ExAC gnomAD
rs780422023 CA8734621	331	V>I		No	ClinGen ExAC TOPMed gnomAD
rs780422023 CA400829907	331	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8734620 rs375363925	332	V>A		No	ClinGen ESP ExAC gnomAD
rs371022782 CA8734619	336	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8734618 rs757669020	337	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8734617 rs757669020	337	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1283939600 CA400829787	337	L>R		No	ClinGen gnomAD
CA400829785 rs1359737341	338	F>L		No	ClinGen TOPMed
rs754378393 CA8734616	339	W>R		No	ClinGen ExAC gnomAD
rs763540217 CA8734615	339	W>S		No	ClinGen ExAC gnomAD
rs949014311 CA293339619	341	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1354389190 CA400829680	343	G>V		No	ClinGen TOPMed
CA400829667 rs1469999014	344	F>V		No	ClinGen gnomAD
COSM1385537 rs1398920141 CA400829655	345	T>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA400829641 rs1167993008	345	T>N		No	ClinGen gnomAD
rs536409186 CA8734612	346	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536409186 CA8734613	346	V>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1316455941 CA400829560	348	Y>C		No	ClinGen TOPMed
rs759278976 CA8734611	352	P>H		No	ClinGen ExAC
rs1181228466 CA400829404	353	S>A		No	ClinGen gnomAD
CA8734610 rs773964580	354	S>T		No	ClinGen ExAC gnomAD
rs766228091 CA8734609	356	E>*		No	ClinGen ExAC gnomAD
CA400829205 rs1279939468	360	N>S		No	ClinGen TOPMed
rs1195658348 CA400829213	360	N>Y		No	ClinGen TOPMed
CA400829157 rs1457529291	362	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA293339588 rs918951671	364	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA400829065 rs1200643131	365	F>S		No	ClinGen gnomAD
CA400829012 rs1308187164	366	A>S		No	ClinGen gnomAD
rs866947847 CA293339585	367	F>L		No	ClinGen Ensembl
CA400828963 rs1256935813	368	T>S		No	ClinGen TOPMed
rs1041117257 CA293339577	369	T>A		No	ClinGen TOPMed gnomAD
CA400828935 rs1381712474	369	T>I		No	ClinGen gnomAD
CA8734606 rs572323285	370	G>E		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	370	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1452902884 CA400828922	371	M>V		No	ClinGen gnomAD
CA400828868 rs1196128814	373	Q>R		No	ClinGen TOPMed
CA8734592 rs754546764	374	I>S		No	ClinGen ExAC TOPMed gnomAD
CA400827252 rs1245819466	376	K>R		No	ClinGen TOPMed
rs1418815071 CA400827066	383	G>A		No	ClinGen gnomAD
rs1418815071 CA400827071	383	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1184822440 CA400827061	384	V>I		No	ClinGen TOPMed
COSM1710696 rs751228740 CA8734591	387	P>S	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs766028975 CA8734590	389	P>S		No	ClinGen ExAC gnomAD
CA400826970 rs1419969459	390	S>P		No	ClinGen TOPMed gnomAD
rs1266750577 CA400826952	392	D>G		No	ClinGen TOPMed gnomAD
CA293337707 rs878955326	394	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1030812743 CA293337712	394	Y>N		No	ClinGen TOPMed
rs1490975843 CA400826922	395	T>A		No	ClinGen gnomAD
CA400826919 rs1270184524	395	T>I		No	ClinGen gnomAD
CA8734589 rs200376492	396	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA293337701 rs145696780	396	M>V		No	ClinGen ESP TOPMed gnomAD
rs1035839391 CA293337697	398	A>G		No	ClinGen TOPMed
CA8734587 rs765245490	399	T>A		No	ClinGen ExAC gnomAD
CA293337683 rs1011792732	402	M>I		No	ClinGen TOPMed
rs1313744977 CA400826852	402	M>V		No	ClinGen TOPMed gnomAD
rs775671560 CA8734585	403	L>S		No	ClinGen ExAC gnomAD
rs1346871702 CA400826799	406	D>G		No	ClinGen gnomAD
rs1233135054 CA400826760	409	I>M		No	ClinGen gnomAD
CA400826764 rs1303630813	409	I>T		No	ClinGen gnomAD
CA293337654 rs1055985846	410	Y>F		No	ClinGen Ensembl
CA400826757 rs1399330488	410	Y>H		No	ClinGen gnomAD
rs772202152 CA8734583	412	L>I		No	ClinGen ExAC TOPMed gnomAD
rs1207589289 CA400826732	412	L>R		No	ClinGen TOPMed
rs771128488 CA8734580	416	Y>H		No	ClinGen ExAC gnomAD
CA293337620 rs906313157	417	F>S		No	ClinGen Ensembl
rs1310955987 CA400826661	419	K>Q		No	ClinGen TOPMed gnomAD
CA293337598 rs928996567	419	K>R		No	ClinGen TOPMed
rs749618313 CA8734579	421	L>*		No	ClinGen ExAC
CA400826623 rs145757597	422	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs145757597 CA8734578	422	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8734555 rs140794236	423	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140794236 CA8734554	423	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400826524 rs1156348906	425	D>E		No	ClinGen TOPMed
TCGA novel	425	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254516694 CA400826511	426	E>D		No	ClinGen gnomAD
CA8734552 rs779453616	426	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8734553 rs746508198	426	E>K		No	ClinGen ExAC gnomAD
rs758085328 CA8734551	427	R>C		No	ClinGen ExAC TOPMed gnomAD
rs758085328 CA400826503	427	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8734550 rs745521265	427	R>H		No	ClinGen ExAC gnomAD
CA400826484 rs1197507063	428	H>R		No	ClinGen gnomAD
rs1263195192 CA400826489	428	H>Y		No	ClinGen gnomAD
CA293336842 rs868578306	429	Y>H		No	ClinGen Ensembl
TCGA novel	430	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8734549 rs778797249	433	F>S		No	ClinGen ExAC TOPMed gnomAD
COSM707470 rs1228085547 CA400826378	435	L>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	436	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400826347 rs1339645922	437	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs753645737 CA8734547	438	S>L		No	ClinGen ExAC gnomAD
CA400826297 rs1398741931	440	C>*		No	ClinGen TOPMed gnomAD
CA8734545 rs756052727	440	C>F		No	ClinGen ExAC gnomAD
rs1457904156 CA400826277	442	Q>*		No	ClinGen gnomAD
rs1376191617 CA400826265	443	H>N		No	ClinGen TOPMed
rs897064723 CA293336806	444	Q>H		No	ClinGen TOPMed gnomAD
CA293336798 rs1029199510	445	R>T		No	ClinGen Ensembl
rs766474269 CA8734543	446	T>A		No	ClinGen ExAC gnomAD
TCGA novel	448	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400826156 rs1289931650	450	V>I		No	ClinGen TOPMed
CA8734541 rs773436301	452	E>G		No	ClinGen ExAC gnomAD
TCGA novel	452	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8734540 rs140507537	454	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8734538 rs372434384	455	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA8734539 rs762160436	455	I>N		No	ClinGen ExAC gnomAD
CA8734536 rs147204308	456	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA8734537 rs769159581	456	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8734533 rs745432184	459	H>L		No	ClinGen ExAC gnomAD
CA8734534 rs771724713	459	H>Y		No	ClinGen ExAC gnomAD
rs1337609492 CA400825832	460	P>L		No	ClinGen TOPMed gnomAD
rs757012789 CA8734531	461	S>P		No	ClinGen ExAC gnomAD
rs749084709 CA8734530	462	D>G		No	ClinGen ExAC TOPMed gnomAD
CA400825665 rs1425642679	465	F>I		No	ClinGen gnomAD
rs538959210 CA293336719	467	P>R		No	ClinGen Ensembl
CA400825556 rs1380094040	467	P>S		No	ClinGen TOPMed gnomAD
CA293336698 rs1019923714	470	P>S		No	ClinGen gnomAD
rs1181950133 CA400825298	474	G>R		No	ClinGen gnomAD
rs1266625010 CA400825209 COSM1710695	476	E>D	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1009836101 CA293336675	476	E>Q		No	ClinGen TOPMed gnomAD
CA400823801 rs1285352589	482	N>I		No	ClinGen gnomAD
rs142610731 CA8734510	490	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs568116861 CA8734509	491	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1268963414 CA400823693	492	G>R		No	ClinGen gnomAD
CA400823670 rs1316544686	495	E>K		No	ClinGen TOPMed
CA400823669 rs1316544686	495	E>Q		No	ClinGen TOPMed
TCGA novel	496	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400823650 rs1433262584	497	L>F		No	ClinGen gnomAD
rs1362687073 CA400823653	497	L>S		No	ClinGen TOPMed
rs772469798 CA293331839	498	K>E		No	ClinGen gnomAD
rs1318495092 CA400823642	499	G>S		No	ClinGen gnomAD
CA400823586 rs1175982559	499	G>V		No	ClinGen TOPMed
rs770347959 CA8734492	502	F>Y		No	ClinGen ExAC gnomAD
rs144729037 CA8734491	504	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8734489 rs769556423	505	Y>H		No	ClinGen ExAC gnomAD
CA8734488 rs142091347	507	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400823469 rs142091347	507	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1457321102 CA400823470	507	G>S		No	ClinGen gnomAD
rs781012617 CA8734487	509	I>V		No	ClinGen ExAC gnomAD
CA8734486 rs144484556	510	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs757271071 CA8734483	511	A>S		No	ClinGen ExAC gnomAD
CA8734484 rs757271071	511	A>T		No	ClinGen ExAC gnomAD
rs1362071788 CA400823416	512	I>M		No	ClinGen gnomAD
CA8734482 rs754019110	513	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA400823414 rs1316645817	513	L>V		No	ClinGen gnomAD
rs1054480788 CA293330470	514	G>C		No	ClinGen TOPMed gnomAD
rs777830583 CA8734481	514	G>V		No	ClinGen ExAC TOPMed gnomAD
CA8734480 rs138362778	515	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA293330461 rs1046568866	516	S>C		No	ClinGen TOPMed
rs753065335 CA8734479	516	S>I		No	ClinGen ExAC gnomAD
rs140119884 CA8734478	516	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs868253923 COSM212358 CA293330450	519	G>D	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
CA8734477 rs760051576	520	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1386864206 CA400823305	524	L>I		No	ClinGen gnomAD
CA293330442 rs919367812	525	N>Y		No	ClinGen TOPMed
TCGA novel	527	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8734476 rs752121110	528	N>D		No	ClinGen ExAC
CA8734475 rs766964099	528	N>S		No	ClinGen ExAC TOPMed gnomAD
rs766964099 CA400823210	528	N>T		No	ClinGen ExAC TOPMed gnomAD
CA400823184 rs1418779884	530	L>S		No	ClinGen gnomAD
rs1292034290 CA400823162	531	S>C		No	ClinGen TOPMed
TCGA novel	531	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400823149 rs1179067788	532	V>L		No	ClinGen gnomAD
rs762365378 CA8734473	533	P>S		No	ClinGen ExAC TOPMed gnomAD
CA400822894 rs1429261442	537	S>P		No	ClinGen TOPMed
CA293330168 rs1032478829	538	V>A		No	ClinGen Ensembl
CA400822842 rs1290789719	539	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs999963722 CA293330150	539	T>I		No	ClinGen Ensembl
CA8734447 rs778551847	540	I>N		No	ClinGen ExAC gnomAD
rs775408775 CA8734444	541	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs373989235 CA8734445	541	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	544	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	544	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	545	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773095627 CA8734441	546	S>C		No	ClinGen ExAC gnomAD
rs745852165 CA8734442	546	S>T		No	ClinGen ExAC gnomAD
rs1465107545 CA400822598	547	E>Q		No	ClinGen gnomAD
CA8734440 rs369607657	548	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs200006023 CA293330126	548	M>V		No	ClinGen 1000Genomes
CA400822523 rs1201188066	549	Q>K		No	ClinGen gnomAD
CA293330118 rs72850817	553	E>D		No	ClinGen 1000Genomes gnomAD
TCGA novel	553	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226613349 CA400822287	556	K>R		No	ClinGen gnomAD
rs1020788467 CA400822235	559	G>A		No	ClinGen TOPMed gnomAD
rs1020788467 COSM223904 CA293330115	559	G>D	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs372285217 CA8734438	560	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372285217 CA8734437 COSM1181254	560	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1382366163 CA400822182	561	C>Y		No	ClinGen gnomAD
rs1334992136 CA400822148	563	Q>*		No	ClinGen gnomAD
COSM437239 rs535844796 CA400822101	564	F>L	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs1454591882 CA400822123	564	F>Y		No	ClinGen gnomAD
CA8734435 rs780488484	565	N>D		No	ClinGen ExAC gnomAD
CA8734434 rs145840477	565	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1171608939 CA400822029	568	F>L		No	ClinGen gnomAD
rs765724324 CA8734432	569	D>N		No	ClinGen ExAC gnomAD
CA8734429 rs753390236	573	V>M		No	ClinGen ExAC TOPMed gnomAD
rs931422805 CA293330069	574	K>R		No	ClinGen Ensembl
rs1462216626 CA400821830	575	E>K		No	ClinGen gnomAD
rs752397455 CA8734426	578	S>N		No	ClinGen ExAC gnomAD
rs753829902	580	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA8734421 rs138313359	582	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8734420 rs761951361	583	I>V		No	ClinGen ExAC gnomAD
rs776897544 CA400821610	584	K>E		No	ClinGen ExAC gnomAD
rs776897544 CA8734419	584	K>Q		No	ClinGen ExAC gnomAD
CA400821591 rs1341124554	585	G>R		No	ClinGen gnomAD
CA400821539 rs1332023068	587	H>Q		No	ClinGen TOPMed gnomAD
rs1399393482 CA400821552	587	H>Y		No	ClinGen TOPMed
CA400821527 rs1328329512	588	L>P		No	ClinGen gnomAD
rs1328329512 CA400821525	588	L>Q		No	ClinGen gnomAD
rs1390135370 CA400821490	590	E>A		No	ClinGen gnomAD
TCGA novel	590	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1385235868 CA400821437	593	Q>*		No	ClinGen TOPMed gnomAD
rs751347982 CA400820333	595	V>I		No	ClinGen ExAC gnomAD
rs751347982 CA8734404	595	V>L		No	ClinGen ExAC gnomAD
CA8734402 rs763005107	597	R>*		No	ClinGen ExAC TOPMed gnomAD
CA400820287 rs763005107	597	R>G		No	ClinGen ExAC TOPMed gnomAD
CA8734401 COSM194155 rs776811252	597	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA400820207 rs1178211306	601	E>*		No	ClinGen TOPMed
rs1451988744 CA400820154	603	D>E		No	ClinGen TOPMed gnomAD
CA8734399 rs760725582	603	D>G		No	ClinGen ExAC gnomAD
rs1266465920 CA400820170	603	D>N		No	ClinGen gnomAD
CA8734398 rs148330093	604	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs772224487 CA8734397	606	N>D		No	ClinGen ExAC gnomAD
TCGA novel	606	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268913445 CA400820045	607	I>S		No	ClinGen TOPMed gnomAD
TCGA novel	609	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199894450 CA8734392	610	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	610	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs9282554 CA8734393 VAR_027577	610	N>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA400819959 rs1326227914	611	L>V		No	ClinGen gnomAD
CA293329279 rs201457575	612	A>T		No	ClinGen TOPMed gnomAD
CA8734390 rs777203184	617	E>A		No	ClinGen ExAC gnomAD
TCGA novel	618	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755632630 CA8734389	618	G>R		No	ClinGen ExAC TOPMed gnomAD
CA400819709 rs780862905	619	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA8734387 rs780862905	619	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1568020781 CA400819696	619	Q>H		No	ClinGen Ensembl
CA293329271 rs371043583	620	K>R		No	ClinGen ESP
rs766309212 CA8734384	622	K>R		No	ClinGen ExAC TOPMed gnomAD
rs765333326 CA8734381	625	F>V		No	ClinGen ExAC gnomAD
CA400819501 rs1247614545	626	G>R		No	ClinGen TOPMed
rs1203058612 CA400819427	627	I>N		No	ClinGen TOPMed gnomAD
CA400819356 rs1220374794	629	I>V		No	ClinGen gnomAD
TCGA novel	634	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs922207479 CA293329228	634	Q>H		No	ClinGen TOPMed
rs758265086 CA8734366	638	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400818839 rs1218396726	639	D>N		No	ClinGen TOPMed
CA400818833 rs1218396726	639	D>Y		No	ClinGen TOPMed
rs1416028358 CA400818778	641	P>A		No	ClinGen gnomAD
rs1182474099 CA400818756	642	T>A		No	ClinGen gnomAD
CA8734364 rs765200252	642	T>I		No	ClinGen ExAC gnomAD
rs1231605663 CA400818735	643	T>A		No	ClinGen gnomAD
rs1207262651 CA400818719	643	T>S		No	ClinGen gnomAD
rs1483579328 CA400818715	644	G>E		No	ClinGen gnomAD
CA400818672 rs1291592894	645	L>S		No	ClinGen gnomAD
CA8734363 rs757166406	646	D>H		No	ClinGen ExAC gnomAD
rs757166406 CA400818637	646	D>Y		No	ClinGen ExAC gnomAD
rs752784545 CA293329051	647	P>S		No	ClinGen ExAC gnomAD
rs752784545 CA8734362	647	P>T		No	ClinGen ExAC gnomAD
CA400818450 rs1228351134	651	D>G		No	ClinGen TOPMed gnomAD
rs1228351134 CA400818449	651	D>V		No	ClinGen TOPMed gnomAD
rs1326193529 CA400818465	651	D>Y		No	ClinGen TOPMed
TCGA novel	652	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs145348070 CA8734361	652	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA293329037 rs929753145	652	Q>R		No	ClinGen Ensembl
rs200474902 CA400818398	653	V>A		No	ClinGen ExAC TOPMed gnomAD
CA8734360 rs200474902	653	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1422541005 CA400818357	656	L>F		No	ClinGen gnomAD
CA8734358 rs766650321	656	L>P		No	ClinGen ExAC gnomAD
rs149756641 CA8734356	657	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8734354 rs748632766	659	E>D		No	ClinGen ExAC TOPMed gnomAD
CA293328990 rs1038039810	659	E>G		No	ClinGen TOPMed
rs770285095 CA8734355	659	E>Q		No	ClinGen ExAC gnomAD
CA293328988 rs866619331	660	R>C		No	ClinGen TOPMed gnomAD
rs147636852 CA8734353	660	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs866619331 CA293328975	660	R>S		No	ClinGen TOPMed gnomAD
rs377491376 CA293328968	661	R>G		No	ClinGen ESP TOPMed
CA400818272 rs1197648584	661	R>K		No	ClinGen TOPMed gnomAD
CA400818271 rs1197648584	661	R>T		No	ClinGen TOPMed gnomAD
CA293328967 rs987135420	662	A>E		No	ClinGen TOPMed
rs373704032 CA8734352	663	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA400818234 rs1319787072	663	D>H		No	ClinGen TOPMed
rs149938879 CA400818198	664	H>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149938879 CA400818201	664	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8734351 rs149938879	664	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779822676 CA8734350	665	V>L		No	ClinGen ExAC TOPMed gnomAD
CA400818142 rs1315794280	666	I>S		No	ClinGen gnomAD
rs1281578211 CA400818124	667	L>P		No	ClinGen gnomAD
CA400818061 rs1230132378	670	T>S		No	ClinGen gnomAD
CA400817985 rs1350983886	673	M>T		No	ClinGen gnomAD
rs1352116095 CA400817993	673	M>V		No	ClinGen TOPMed
CA8734349 rs758175377	674	D>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	674	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400817907 rs1402802683	675	E>D		No	ClinGen TOPMed gnomAD
rs1282599262 CA400817916	675	E>G		No	ClinGen gnomAD
CA400817886 rs1369483651	676	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778606389 CA8734347	677	D>H		No	ClinGen ExAC gnomAD
rs923792136 CA293328935	678	I>L		No	ClinGen gnomAD
rs1161525351 CA400817844	678	I>T		No	ClinGen TOPMed gnomAD
CA400817851 rs923792136	678	I>V		No	ClinGen gnomAD
CA400817814 rs1429150518	680	A>G		No	ClinGen gnomAD
CA8734346 rs757153947	680	A>S		No	ClinGen ExAC gnomAD
rs1190128757 CA400817661	681	D>E		No	ClinGen TOPMed gnomAD
CA8734322 rs777537977	681	D>V		No	ClinGen ExAC
rs1464947835 CA400817656	682	R>G		No	ClinGen gnomAD
rs369813955 CA8734321	683	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	683	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198630914 CA400817628	683	K>R		No	ClinGen gnomAD
rs139133153 CA8734320	684	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs780136759 CA8734319	685	I>V		No	ClinGen ExAC gnomAD
CA8734318 rs150749488	686	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293328205 rs112906363	688	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA400817538 rs1229482194	688	N>K		No	ClinGen gnomAD
rs112906363 CA8734317	688	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	690	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8734316 rs765553628	690	R>K		No	ClinGen ExAC gnomAD
TCGA novel	691	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762052907 CA8734315	692	K>Q		No	ClinGen ExAC gnomAD
rs1397886739 CA400817482	692	K>R		No	ClinGen gnomAD
rs1397886739 CA400817484	692	K>T		No	ClinGen gnomAD
rs1215543233 CA400817430	694	A>G		No	ClinGen TOPMed
CA8734314 rs754278668	695	G>R		No	ClinGen ExAC gnomAD
rs764648715 CA8734313	695	G>V		No	ClinGen ExAC gnomAD
rs1372858104 CA400817413	696	S>T		No	ClinGen gnomAD
VAR_027578 rs9282553 CA8734308 CA8734309	698	M>I		No	ClinGen UniProt 1000Genomes ESP TOPMed dbSNP gnomAD
rs775076242 CA8734311	698	M>T		No	ClinGen ExAC TOPMed gnomAD
rs376838487 CA8734312	698	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8734307 rs771724533	700	L>S		No	ClinGen ExAC gnomAD
rs759179279 CA8734306	701	K>E		No	ClinGen ExAC gnomAD
CA8734305 rs773874833	703	R>G		No	ClinGen ExAC gnomAD
CA8734304 rs748848295	703	R>S		No	ClinGen ExAC TOPMed gnomAD
rs749011025 CA8734303	704	W>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	704	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400817287 rs1598472750	705	G>S		No	ClinGen Ensembl
CA8734302 rs773772938	708	Y>*		No	ClinGen ExAC gnomAD
CA400817255 rs1323437558	708	Y>H		No	ClinGen TOPMed
rs570894394 CA8734301	709	H>Y		No	ClinGen ExAC gnomAD
CA8734284 rs765896020	712	L>*		No	ClinGen ExAC gnomAD
rs115419079 CA8734283	714	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1260259132 CA400816388	715	N>S		No	ClinGen gnomAD
CA400816363 rs1352815504	716	E>D		No	ClinGen gnomAD
rs1289557834 CA400816346	717	I>R		No	ClinGen gnomAD
CA400816357 rs1292581817	717	I>V		No	ClinGen TOPMed
rs769589427 CA8734282	718	C>F		No	ClinGen ExAC TOPMed gnomAD
rs1404647722 CA400816341	718	C>R		No	ClinGen TOPMed gnomAD
CA8734281 rs769589427	718	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA400816305 rs201787052 CA8734280	719	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1321157448 CA400816316	719	N>Y		No	ClinGen gnomAD
rs1390782996 CA400816284	721	E>Q		No	ClinGen gnomAD
CA400816235 rs1200653969	723	I>T		No	ClinGen TOPMed
CA400816225 rs1280345080	724	T>A		No	ClinGen TOPMed
rs768629941 CA8734278	725	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1186421587 CA400816156	728	T>S		No	ClinGen TOPMed gnomAD
rs745888230 CA8734277	729	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1159835061 CA400816121	731	I>V		No	ClinGen gnomAD
CA8734275 rs757357567	732	P>H		No	ClinGen ExAC TOPMed gnomAD
CA8734276 rs779082906	732	P>T		No	ClinGen ExAC gnomAD
CA8734271 rs753157267	733	D>E		No	ClinGen ExAC TOPMed gnomAD
rs756546789 CA8734272	733	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	734	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206857039 CA400816082	735	K>E		No	ClinGen gnomAD
rs755528683 COSM1493994 CA8734269	736	L>*	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs560414209 CA8734268	736	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8734270 rs768112540	736	L>I		No	ClinGen ExAC
CA400816053 rs1223502076	738	T>A		No	ClinGen gnomAD
CA400816047 rs1343303417	738	T>R		No	ClinGen gnomAD
TCGA novel	739	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1277010208 CA400816032	740	N>D		No	ClinGen gnomAD
rs1319480733 CA400815932	743	K>N		No	ClinGen gnomAD
rs1331288996 CA400815936	743	K>R		No	ClinGen TOPMed gnomAD
rs765916370 CA8734267	745	V>I		No	ClinGen ExAC gnomAD
CA293327031 rs892976827	746	Y>N		No	ClinGen TOPMed gnomAD
CA8734266 rs762453485	747	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1325317888 CA400815827	751	E>G		No	ClinGen TOPMed
CA293327010 rs937102043	752	R>K		No	ClinGen TOPMed
rs1281950586 CA400815809	753	T>A		No	ClinGen TOPMed
CA8734264 rs200566394	758	D>N		No	ClinGen 1000Genomes ExAC
rs142343922 CA8734247	758	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA400815196 rs749975370	759	L>F		No	ClinGen ExAC gnomAD
CA8734246 rs749975370	759	L>I		No	ClinGen ExAC gnomAD
CA293324600 rs749975370	759	L>V		No	ClinGen ExAC gnomAD
rs561018562 CA8734244	760	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1437609900 CA400815116	762	D>E		No	ClinGen TOPMed gnomAD
CA400815082 rs1272986348	764	D>H		No	ClinGen gnomAD
rs1202561030 CA400815061	765	K>N		No	ClinGen gnomAD
rs1274950270 CA400815017	768	D>E		No	ClinGen TOPMed gnomAD
rs1376357129 CA400815003	769	Q>H		No	ClinGen gnomAD
CA8734242 rs753564619	769	Q>R		No	ClinGen ExAC gnomAD
CA400814991 rs1285868370	770	G>E		No	ClinGen gnomAD
rs1349613364 CA400814983	771	V>M		No	ClinGen TOPMed gnomAD
rs527272000 CA8734239	772	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764935329 CA293324562	772	T>S		No	ClinGen Ensembl
rs754662279 CA293324554	776	I>N		No	ClinGen Ensembl
rs775496628 CA400814803 CA8734238	778	M>I		No	ClinGen ExAC gnomAD
rs982629809 CA293324549	778	M>V		No	ClinGen Ensembl
CA8734237 rs771946460	782	N>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	783	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8734235 rs773443230	784	V>I		No	ClinGen ExAC gnomAD
rs952252822 CA293324511	786	M>K		No	ClinGen TOPMed gnomAD
rs770097518 CA8734234	789	E>K		No	ClinGen ExAC gnomAD
rs1250278045 CA400814551	790	G>E		No	ClinGen gnomAD
rs368424846 CA8734233	791	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA400814508 rs1483590115	792	S>L		No	ClinGen gnomAD
rs113133490 CA8734232	793	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8734231 rs769049542	794	I>V		No	ClinGen ExAC gnomAD
CA8734229 rs374410367	795	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs545028876 CA293324471	796	Q>K		No	ClinGen 1000Genomes gnomAD
CA400814401 rs1328325346	797	D>N		No	ClinGen TOPMed gnomAD
rs775748618 CA400813971	798	F>L		No	ClinGen ExAC TOPMed gnomAD
CA400813965 rs771243934	799	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8734211 rs771243934 COSM1181258	799	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	800	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400813902 rs746386166	801	V>L		No	ClinGen ExAC TOPMed gnomAD
CA8734210 rs746386166	801	V>M		No	ClinGen ExAC TOPMed gnomAD
rs140991258 CA8734208 CA400813839	803	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400813807 rs1269233742	804	I>T		No	ClinGen gnomAD
CA400813785 rs1206692894	805	R>K		No	ClinGen TOPMed
CA293323495 rs950332106	806	D>G		No	ClinGen TOPMed
rs748786137 CA8734206	808	E>K		No	ClinGen ExAC TOPMed gnomAD
CA400813626 rs1302227132	810	L>R		No	ClinGen gnomAD
CA400813614 rs1228028330	811	N>D		No	ClinGen gnomAD
CA400813609 rs1363080218	811	N>S		No	ClinGen gnomAD
CA293323486 rs868099848	813	M>V		No	ClinGen TOPMed gnomAD
rs1402066360 CA400813489	816	A>V		No	ClinGen gnomAD
rs1301608606 CA400813415	819	S>F		No	ClinGen gnomAD
CA400813275 rs1360178226	823	M>R		No	ClinGen gnomAD
CA400813277 rs1360178226	823	M>T		No	ClinGen gnomAD
CA8734203 rs755741229	823	M>V		No	ClinGen ExAC gnomAD
rs1025465446 CA293323420	824	Q>E		No	ClinGen TOPMed gnomAD
rs752502034 CA8734202	825	T>A		No	ClinGen ExAC gnomAD
CA8734201 rs767224237	827	V>M		No	ClinGen ExAC TOPMed gnomAD
rs754908845 CA400813080	830	M>R		No	ClinGen ExAC gnomAD
rs754908845 CA8734200	830	M>T		No	ClinGen ExAC gnomAD
CA8734199 rs374746478	831	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA8734196 rs761955059	833	W>R		No	ClinGen ExAC gnomAD
CA8734195 rs776624405	833	W>S		No	ClinGen ExAC gnomAD
CA8734194 rs764328319	834	R>K		No	ClinGen ExAC gnomAD
rs1038707587 CA293323315	835	M>I		No	ClinGen Ensembl
CA293323325 rs775864821	835	M>K		No	ClinGen ExAC TOPMed gnomAD
CA8734192 rs775864821	835	M>T		No	ClinGen ExAC TOPMed gnomAD
rs760811556 CA8734193	835	M>V		No	ClinGen ExAC gnomAD
CA8734190 rs746296259	839	A>S		No	ClinGen ExAC gnomAD
rs1339956237 CA400812838	839	A>V		No	ClinGen gnomAD
rs138864547 CA8734189	840	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA400812833 rs1305553853	840	M>V		No	ClinGen TOPMed
CA400812758 COSM983546 rs1307761237	842	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA400812765 rs1380326926	842	R>W		No	ClinGen TOPMed gnomAD
COSM1710693 CA8734187 rs150220020	844	R>C	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8734186 rs376370716 COSM562329	844	R>H	lung haematopoietic_and_lymphoid_tissue Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA400812686 rs376370716	844	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200521730 CA8734185	845	F>S		No	ClinGen 1000Genomes ExAC gnomAD
rs374714223 CA293323288	849	K>R		No	ClinGen ESP TOPMed gnomAD
rs377306226 CA8734184	850	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs781051823 COSM3691751 CA8734183	850	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA400812590 rs1425536658	851	Q>*		No	ClinGen gnomAD
rs754818870 CA293323262	851	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1489615942 CA400812586	851	Q>P		No	ClinGen TOPMed
rs934765000 CA293323233	852	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA8734181 rs751442270	853	K>E		No	ClinGen ExAC gnomAD
CA293323214 rs368906705	854	V>L		No	ClinGen Ensembl
rs368906705 CA400812551	854	V>M		No	ClinGen Ensembl
rs946892091 CA293323197	855	L>S		No	ClinGen TOPMed
rs1479099776 CA400812522	856	L>F		No	ClinGen TOPMed gnomAD
CA8734179 rs202127512	856	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400812506 rs760865712	858	L>P		No	ClinGen ExAC gnomAD
CA8734176 rs760865712	858	L>Q		No	ClinGen ExAC gnomAD
rs927764416 CA293363934	863	G>E		No	ClinGen TOPMed gnomAD
CA400847635 rs1344453162	864	I>V		No	ClinGen TOPMed
rs756114521 COSM1385533 CA8734157	865	A>T	large_intestine Variant assessed as Somatic; 4.73e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1158893424 CA400847599	866	I>V		No	ClinGen gnomAD
rs1477579597 CA400847568	867	F>L		No	ClinGen gnomAD
rs1376076994 COSM224748 CA400847564	868	P>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA8734155 rs143374697	870	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369741285 CA8734154	870	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs751850392 CA8734153	871	V>F		No	ClinGen ExAC gnomAD
CA400847480 rs1285608464	874	I>V		No	ClinGen gnomAD
VAR_027579 rs7212506 CA400847467 CA8734151	875	M>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA8734150 rs773590801	876	Y>H		No	ClinGen ExAC gnomAD
rs1011067832 CA293363894	877	A>T		No	ClinGen gnomAD
CA400847455 rs1296167725	877	A>V		No	ClinGen gnomAD
rs768382795 CA8734146	878	M>K		No	ClinGen ExAC gnomAD
rs768382795 CA400847443	878	M>T		No	ClinGen ExAC gnomAD
rs776303672 CA8734147	878	M>V		No	ClinGen ExAC gnomAD
CA8734145 rs746673078	882	K>M		No	ClinGen ExAC gnomAD
CA400847362 rs745713208 COSM983543	884	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8734142 rs745713208	884	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1389805206 CA400847331	885	W>L		No	ClinGen gnomAD
rs1157933014 CA400847338	885	W>R		No	ClinGen TOPMed
rs757237731 CA8734140	886	E>K		No	ClinGen ExAC gnomAD
CA8734139 rs752729764	889	N>S		No	ClinGen ExAC gnomAD
rs781249897 CA8734138 COSM983542	890	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA293363846 rs76601510	892	Y>F		No	ClinGen Ensembl
CA8734136 rs372382433	892	Y>N		No	ClinGen ESP ExAC gnomAD
CA8734135 rs369171237	894	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs546453741 CA8734133	895	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400847133 rs1273473772	896	P>A		No	ClinGen gnomAD
TCGA novel	896	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762441769 CA8734131	897	G>A		No	ClinGen ExAC gnomAD
CA8734132 rs765614112	897	G>R		No	ClinGen ExAC gnomAD
rs1223615787 CA400847117	898	Q>*		No	ClinGen TOPMed
CA400847113 rs1440407085	898	Q>R		No	ClinGen gnomAD
rs776215451 CA8734130	900	P>S		No	ClinGen ExAC gnomAD
CA8734127 rs775251754	903	P>L		No	ClinGen ExAC TOPMed gnomAD
rs200209682 CA8734126	904	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8734125 rs147647384	904	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs147647384 CA400847018	904	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143585625 CA8734122	908	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8734120 rs755050095	911	N>S		No	ClinGen ExAC TOPMed gnomAD
CA8734121 rs755050095	911	N>T		No	ClinGen ExAC TOPMed gnomAD
CA400846907 rs1232204858	912	N>D		No	ClinGen gnomAD
rs1468363789 CA400846896	912	N>I		No	ClinGen TOPMed
CA400846880 rs747133782	913	T>A		No	ClinGen ExAC gnomAD
rs747133782 CA8734119	913	T>P		No	ClinGen ExAC gnomAD
rs1177753463 CA400846870	914	E>K		No	ClinGen TOPMed
rs202071964 CA8734098	914	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs758483044 CA8734097	915	S>T		No	ClinGen ExAC gnomAD
rs746115888 CA8734096	916	N>D		No	ClinGen ExAC gnomAD
CA400846359 rs1353164896	918	E>D		No	ClinGen TOPMed
rs1233893996 CA400846255	921	I>V		No	ClinGen gnomAD
TCGA novel	922	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1328186753 CA400846208	923	S>*		No	ClinGen gnomAD
rs757664428 CA8734094	927	Q>*		No	ClinGen ExAC gnomAD
CA400846136 rs757664428 COSM3742412	927	Q>E	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA8734092 rs760102956	928	N>T		No	ClinGen ExAC TOPMed gnomAD
CA8734091 rs756716542	929	I>M		No	ClinGen ExAC gnomAD
CA400846034 rs1568011115	929	I>V		No	ClinGen Ensembl
rs1568011106 CA400845989	930	L>P		No	ClinGen Ensembl
rs922592118 CA293362389	931	L>F		No	ClinGen TOPMed gnomAD
CA8734089 rs576865054	934	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149719109 CA8734090	934	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA8734088 rs759023356	935	D>N		No	ClinGen ExAC gnomAD
rs766064587 CA8734087	938	N>I		No	ClinGen ExAC gnomAD
rs766064587 CA8734086	938	N>S		No	ClinGen ExAC gnomAD
rs139888587 CA8734085	939	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8734084 rs146449708	939	R>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400845659 rs1382282345	939	R>S		No	ClinGen TOPMed gnomAD
CA293362345 rs913450867	941	G>V		No	ClinGen Ensembl
CA400845595 rs1190325882	942	T>I		No	ClinGen gnomAD
rs761815141 CA8734082	943	D>E		No	ClinGen ExAC gnomAD
CA8734081 rs775374771	945	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1455266952 CA400845548	945	L>P		No	ClinGen gnomAD
CA400845517 rs1217610013	946	S>*		No	ClinGen TOPMed gnomAD
CA400845512 rs1217610013	946	S>L		No	ClinGen TOPMed gnomAD
rs1278183650 CA400845494	947	Y>C		No	ClinGen gnomAD
CA8734080 rs772187881	947	Y>H		No	ClinGen ExAC gnomAD
rs1373264656 CA400845467	948	N>Y		No	ClinGen gnomAD
CA8734078 rs143999890	949	G>R		No	ClinGen ESP ExAC gnomAD
CA400845410 rs1424012359	952	I>R		No	ClinGen TOPMed
rs771299404 CA400845376	955	G>D		No	ClinGen ExAC gnomAD
CA8734076 rs771299404	955	G>V		No	ClinGen ExAC gnomAD
rs1418553917 CA400845287	957	Q>P		No	ClinGen gnomAD
TCGA novel	958	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	959	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8734056 rs749531939	959	D>V		No	ClinGen ExAC TOPMed gnomAD
CA8734055 rs778194417	960	Y>C		No	ClinGen ExAC gnomAD
rs1204785118 CA400844394	961	R>G		No	ClinGen gnomAD
rs1568009470 CA400844390	961	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA293361325 rs747895479	964	V>I		No	ClinGen Ensembl
rs1255059314 CA400844358	966	C>S		No	ClinGen TOPMed gnomAD
CA8734053 rs748505988	967	N>D		No	ClinGen ExAC gnomAD
rs1026803019 CA293361321	968	T>I		No	ClinGen TOPMed gnomAD
rs1386004043 CA400844332	970	R>K		No	ClinGen TOPMed
CA400844324 rs1320107789	971	L>*		No	ClinGen TOPMed
CA400844315 rs1235512266	972	H>Q		No	ClinGen gnomAD
CA8734052 rs781711966	972	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746491691 CA8734050	977	L>F		No	ClinGen ExAC gnomAD
rs746491691 CA400844283	977	L>V		No	ClinGen ExAC gnomAD
rs1393913095 CA400844273	978	M>I		No	ClinGen gnomAD
rs112641777 CA8734049	978	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1488388734 CA400844268	979	N>T		No	ClinGen gnomAD
TCGA novel	980	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757990751 CA8734048	980	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8734046 rs141549178	981	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA8734045 rs757052869	983	N>S		No	ClinGen ExAC gnomAD
rs148796350 CA8734043	985	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1273847223 CA400844215	987	Q>L		No	ClinGen TOPMed
CA293361260 rs1040776984	988	M>I		No	ClinGen TOPMed
rs943670904 CA293361241	990	N>K		No	ClinGen TOPMed
rs774512045 CA8734041	990	N>S		No	ClinGen ExAC gnomAD
CA400844184 rs1282604474	991	H>Q		No	ClinGen TOPMed
rs1196385575 CA400844186	991	H>R		No	ClinGen gnomAD
CA8734040 rs144358941	992	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs566055632 CA8734039	993	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1216141579 CA400844166	994	H>R		No	ClinGen gnomAD
CA8734038 rs775361100	995	I>T		No	ClinGen ExAC TOPMed gnomAD
CA8734037 rs143975041 COSM1385532	996	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs138416476 CA8734036	996	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs138416476 CA8734035	996	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA8734034 rs368415700	997	I>V		No	ClinGen ESP ExAC TOPMed
CA400844145 rs1308717400	998	E>G		No	ClinGen gnomAD
CA8734033 rs747530521	998	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400844139 rs1568009208	999	S>A		No	ClinGen Ensembl
rs757900822 CA8734031	1000	S>R		No	ClinGen ExAC gnomAD
CA8734029 rs778488897	1003	P>H		No	ClinGen ExAC gnomAD
CA400844106 rs1462991016	1004	L>R		No	ClinGen gnomAD
rs777546770 CA8734007	1006	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1247939454 CA400843188	1007	I>M		No	ClinGen gnomAD
CA400843204 rs1454777494	1007	I>V		No	ClinGen TOPMed gnomAD
CA400843171 rs1449064462	1008	G>A		No	ClinGen gnomAD
COSM399356 rs755938845 CA8734006	1008	G>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	1010	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1490319143 CA400843129	1010	W>C		No	ClinGen TOPMed
CA293359732 rs1028044622	1010	W>R		No	ClinGen Ensembl
rs1262925137 CA400843143	1010	W>S		No	ClinGen gnomAD
rs145535386 CA8734004	1012	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755001858 CA8734002	1012	G>V		No	ClinGen ExAC gnomAD
rs145535386 CA8734003	1012	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM3670213 rs977492722 CA293359704	1014	P>L	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs765246626 CA8733999	1015	D>H		No	ClinGen ExAC gnomAD
CA400843051 rs765246626	1015	D>N		No	ClinGen ExAC gnomAD
CA8733998 rs762011413	1015	D>V		No	ClinGen ExAC gnomAD
rs754004905 CA8733997	1019	F>C		No	ClinGen ExAC gnomAD
rs575996331 CA293359686	1020	L>*		No	ClinGen ExAC gnomAD
CA8733995 rs575996331	1020	L>S		No	ClinGen ExAC gnomAD
CA8733994 rs760977859	1021	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1363448014 CA400842871	1022	L>S		No	ClinGen TOPMed
rs772500714 CA8733992	1024	L>P		No	ClinGen ExAC gnomAD
rs760048687 CA8733991	1025	C>G		No	ClinGen ExAC TOPMed gnomAD
rs760048687 CA400842802	1025	C>R		No	ClinGen ExAC TOPMed gnomAD
rs774976963 CA8733990	1025	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1305688410 CA400842778	1026	S>G		No	ClinGen TOPMed
rs770337864 CA8733989	1026	S>N		No	ClinGen ExAC TOPMed gnomAD
CA8733988 rs748867042	1029	P>R		No	ClinGen ExAC
CA8733987 rs777266626	1030	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA400842595 rs1289199865	1033	M>V		No	ClinGen TOPMed
TCGA novel	1034	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1034	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400842532 rs1484903160	1036	I>N		No	ClinGen TOPMed gnomAD
rs1484903160 CA400842529	1036	I>T		No	ClinGen TOPMed gnomAD
CA8733986 rs147055364	1036	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1037	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733985 rs747915264	1038	D>H		No	ClinGen ExAC gnomAD
rs1212629616 CA400842463	1039	Y>*		No	ClinGen gnomAD
CA8733961 rs143018743	1042	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1042	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776485754 CA8733959	1043	A>G		No	ClinGen ExAC gnomAD
CA8733960 rs201544714	1043	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400841847 rs1383081146	1044	K>E		No	ClinGen TOPMed
rs138992705 CA8733958	1045	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA293358929 rs1030055454	1046	Q>K		No	ClinGen TOPMed
rs758389680 CA8733955	1050	S>L		No	ClinGen ExAC gnomAD
rs777844166 CA8733953	1052	L>P		No	ClinGen ExAC gnomAD
CA8733954 rs749258359	1052	L>V		No	ClinGen ExAC gnomAD
rs140419765 CA8733952	1053	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752907690 CA8733951	1054	T>A		No	ClinGen ExAC gnomAD
CA400841673 rs1282418982	1056	A>V		No	ClinGen gnomAD
CA8733950 rs767762372	1057	Y>*		No	ClinGen ExAC gnomAD
rs151220283 CA8733949	1059	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400841584 rs1302714021	1060	G>E		No	ClinGen gnomAD
rs1438810398 CA400841579	1061	Q>K		No	ClinGen gnomAD
CA400841534 rs1327235173	1063	L>P		No	ClinGen gnomAD
rs1430459569 CA400841523	1064	V>M		No	ClinGen gnomAD
CA293358850 rs143150829	1065	D>A		No	ClinGen ESP TOPMed gnomAD
CA8733947 rs766759180	1066	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8733946 rs763523040	1067	S>T		No	ClinGen ExAC gnomAD
rs1009369014 CA293358835	1073	L>I		No	ClinGen TOPMed
rs764830640 CA8733944	1074	L>F		No	ClinGen ExAC TOPMed gnomAD
rs866048866 CA293358832	1074	L>R		No	ClinGen Ensembl
CA8733942 rs577092050	1076	M>I		No	ClinGen 1000Genomes ExAC gnomAD
CA8733941 rs768474535	1077	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1598453266 CA400841230	1077	Y>H		No	ClinGen Ensembl
rs775359558 CA8733939	1079	I>T		No	ClinGen ExAC gnomAD
COSM1630362 CA8733940 rs746734130	1079	I>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA293358795 rs755057576	1082	I>K		No	ClinGen TOPMed
rs745803227 CA400841156	1082	I>L		No	ClinGen ExAC TOPMed gnomAD
CA8733937 rs745803227	1082	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1084	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778885502 CA8733936	1085	M>I		No	ClinGen ExAC TOPMed
CA400841056 rs1232167877	1089	L>F		No	ClinGen gnomAD
CA400841032 rs1350235514	1091	T>K		No	ClinGen TOPMed gnomAD
rs1350235514 CA400841035	1091	T>R		No	ClinGen TOPMed gnomAD
rs1032677527 CA293358765	1095	V>A		No	ClinGen TOPMed
CA8733934 rs756151634	1095	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400840915 rs1382209996	1098	L>F		No	ClinGen gnomAD
rs375653230 CA8733916	1100	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs552412891 CA8733914	1102	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs201072725 CA293358626	1102	T>I		No	ClinGen ESP TOPMed gnomAD
rs781256222 CA8733913	1103	P>A		No	ClinGen ExAC gnomAD
rs140988037 CA8733912	1103	P>R		No	ClinGen ESP ExAC gnomAD
CA400840709 rs780212090	1106	A>E		No	ClinGen ExAC TOPMed gnomAD
CA8733910 rs780212090	1106	A>G		No	ClinGen ExAC TOPMed gnomAD
CA400840708 rs780212090	1106	A>V		No	ClinGen ExAC TOPMed gnomAD
rs758758118 CA8733909	1107	A>G		No	ClinGen ExAC gnomAD
CA400840681 rs1476285008	1108	S>C		No	ClinGen gnomAD
CA400840682 rs1476285008	1108	S>Y		No	ClinGen gnomAD
rs146457985 CA400840648	1110	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed
CA8733908 rs146457985	1110	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed
TCGA novel	1111	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733905 rs757872689	1114	Y>C		No	ClinGen ExAC gnomAD
rs745796797 CA293358594	1115	M>R		No	ClinGen Ensembl
CA400840486 rs1470241707	1119	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	1120	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763645493 COSM259267 CA8733903	1121	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs144019394 CA8733902	1121	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400840446 rs144019394	1121	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1235535471 CA400840414	1123	R>K		No	ClinGen gnomAD
CA8733901 rs542008351	1123	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370356436 CA8733900	1124	R>G		No	ClinGen ESP ExAC gnomAD
rs774161254 CA8733898	1125	K>E		No	ClinGen ExAC TOPMed gnomAD
CA400840387 rs1370594607	1126	N>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1209584441 CA400840363	1126	N>K		No	ClinGen Ensembl
CA400840371 rs1299794165	1126	N>T		No	ClinGen gnomAD
CA400840350 rs1466035915	1127	S>I		No	ClinGen gnomAD
TCGA novel	1127	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1393688557 CA400840347	1127	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs529827105 CA8733897	1128	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1129	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762894146 CA8733896	1131	S>*		No	ClinGen ExAC gnomAD
CA400840245 rs1323531976	1133	Y>F		No	ClinGen TOPMed
CA8733895 rs773194850	1134	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1181440571 CA400840218	1135	F>L		No	ClinGen gnomAD
rs1417365129 CA400840210	1135	F>S		No	ClinGen gnomAD
rs765618525	1137	A>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA400838983 rs1598447526	1137	A>D		No	ClinGen Ensembl
CA400838991 rs1348023012	1137	A>T		No	ClinGen gnomAD
CA400838952 rs568291044	1140	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs568291044 CA8733871	1140	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772355982 CA8733870	1143	S>A		No	ClinGen ExAC gnomAD
rs746073194 CA8733869	1145	T>I		No	ClinGen ExAC TOPMed gnomAD
CA400838847 rs746073194	1145	T>N		No	ClinGen ExAC TOPMed gnomAD
CA8733868 rs774779803	1146	L>*		No	ClinGen ExAC TOPMed gnomAD
CA293356787 rs796324711	1147	I>M		No	ClinGen Ensembl
rs1331631991 CA400838834	1147	I>V		No	ClinGen gnomAD
CA293356775 rs769459910	1152	L>R		No	ClinGen gnomAD
CA400838730 rs1299102425	1153	S>R		No	ClinGen gnomAD
CA8733865 rs749714840	1154	I>L		No	ClinGen ExAC TOPMed gnomAD
rs778289977 CA8733864	1157	T>A		No	ClinGen ExAC gnomAD
rs565538031 CA293356758 CA8733862	1159	M>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1161	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342966953 CA400838597	1162	V>G		No	ClinGen TOPMed
CA400838576 rs1200077585	1164	S>L		No	ClinGen TOPMed
CA8733859 rs751212044	1165	Y>H		No	ClinGen ExAC gnomAD
rs766064571 CA8733858	1166	T>A		No	ClinGen ExAC gnomAD
CA8733857 rs145482966	1167	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1308522300 CA400838491	1172	T>S		No	ClinGen Ensembl
TCGA novel	1174	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776686731 CA8733853	1176	V>L		No	ClinGen ExAC gnomAD
CA400838121 rs1241694762	1178	D>H		No	ClinGen TOPMed
CA400838105 rs1461204472	1179	Q>P		No	ClinGen TOPMed
CA400838087 rs779633802	1180	E>D		No	ClinGen ExAC gnomAD
CA400838084 rs1232458315	1181	H>N		No	ClinGen gnomAD
rs1362624575 CA400838066	1182	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA293354015 rs949637701	1185	F>L		No	ClinGen Ensembl
CA293354010 rs758078882	1186	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8733835 rs758078882	1186	P>R		No	ClinGen ExAC TOPMed gnomAD
rs750167149 CA8733834	1188	A>E		No	ClinGen ExAC gnomAD
rs1335292956 CA400837985	1189	N>K		No	ClinGen gnomAD
rs778587940 CA8733833	1189	N>T		No	ClinGen ExAC gnomAD
rs1486212428 CA400837967	1191	E>Q		No	ClinGen gnomAD
CA8733832 rs757141458	1193	S>T		No	ClinGen ExAC gnomAD
CA8733831 rs374946406	1195	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1401704965 CA400837908	1196	D>A		No	ClinGen gnomAD
rs1378386447 CA400837914	1196	D>N		No	ClinGen TOPMed
rs1164578138 CA400837887	1198	L>V		No	ClinGen gnomAD
rs1467795410 CA400837880	1199	V>I		No	ClinGen TOPMed
rs202198262 CA8733830	1202	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA400837841 rs1460217924	1202	I>T		No	ClinGen gnomAD
rs370787361 CA293353976	1202	I>V		No	ClinGen ESP TOPMed
rs756976569 CA8733813	1203	P>H		No	ClinGen ExAC TOPMed gnomAD
rs753685604 CA8733812	1206	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA8733811 rs777813083	1206	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs751630890 COSM983537 CA8733809	1211	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1261770948 CA400837652	1215	R>G		No	ClinGen TOPMed
rs190820653 CA8733806	1216	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8733808 rs201339605	1216	C>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765545513 CA8733805	1216	C>W		No	ClinGen ExAC gnomAD
CA8733807 rs190820653	1216	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400837619 rs1296029373	1217	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA8733803 rs777015071	1217	M>T		No	ClinGen ExAC TOPMed gnomAD
CA8733804 rs762034572	1217	M>V		No	ClinGen ExAC TOPMed gnomAD
rs769087886 CA8733802	1222	G>R		No	ClinGen ExAC TOPMed gnomAD
rs149663995 CA8733801	1222	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1178367207 CA400837538	1224	K>E		No	ClinGen TOPMed
CA8733800 COSM1385530 rs140021843	1227	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA8733799 rs768418765	1227	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs745429415 CA8733798	1229	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	1230	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778377159 CA8733797 COSM983535	1230	P>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs770642959 CA8733796	1233	R>*		No	ClinGen ExAC gnomAD
CA293353492 rs145579947	1233	R>T		No	ClinGen ESP
rs1322663643 CA400837016	1235	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1336203076 CA400837000	1236	P>L		No	ClinGen TOPMed
CA8733783 rs200065915	1237	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400836957 rs1352400534	1238	S>R		No	ClinGen TOPMed
CA400836926 rs1478232110	1240	D>A		No	ClinGen gnomAD
CA293353131 rs904623001	1241	A>V		No	ClinGen TOPMed gnomAD
CA400836834 rs1446965048	1245	P>A		No	ClinGen Ensembl
CA8733782 rs775951836	1246	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1484313744 CA400836770	1248	P>R		No	ClinGen gnomAD
rs765741469 CA8733780	1249	I>T		No	ClinGen ExAC TOPMed gnomAD
rs532244120 CA8733781	1249	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1251695981 CA400836731	1250	D>G		No	ClinGen TOPMed
CA8733779 rs200653272	1250	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA293353126 rs1022106080	1252	D>V		No	ClinGen gnomAD
rs770431765 CA8733778	1253	E>D		No	ClinGen ExAC gnomAD
CA400836659 rs1340686024	1254	D>N		No	ClinGen gnomAD
CA8733777 rs748933886	1255	I>T		No	ClinGen ExAC gnomAD
CA8733775 rs769682581	1259	R>K		No	ClinGen ExAC
rs780943782 CA8733773	1260	I>K		No	ClinGen ExAC gnomAD
CA8733774 rs748006070	1260	I>V		No	ClinGen ExAC TOPMed gnomAD
rs745872234 CA8733772	1261	R>K		No	ClinGen ExAC gnomAD
CA8733771 rs745872234	1261	R>T		No	ClinGen ExAC gnomAD
rs74542273 CA8733770	1262	T>P		No	ClinGen ExAC gnomAD
rs1417404309 CA400836525	1266	L>M		No	ClinGen gnomAD
rs754057303 CA8733768	1267	T>N		No	ClinGen ExAC gnomAD
CA293353093 rs1012496460	1271	L>F		No	ClinGen Ensembl
rs1425612597 CA400836464	1272	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs147065517 CA8733766	1273	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1437971562 CA400836399	1275	P>S		No	ClinGen gnomAD
CA8733754 rs369533644	1276	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8733755 rs147486009	1276	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1243291957 CA400836386	1277	I>T		No	ClinGen TOPMed
rs1007694689 CA293352789	1280	S>G		No	ClinGen Ensembl
rs770972944 CA8733751	1281	C>R		No	ClinGen ExAC gnomAD
rs1265721994 CA400836361	1281	C>Y		No	ClinGen gnomAD
rs371602458 CA293352781	1283	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA400836349 rs1413490410	1283	H>Y		No	ClinGen TOPMed
CA8733747 rs756329550	1286	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA293352771 rs756329550	1286	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA400836322 rs1321265389	1287	A>T		No	ClinGen gnomAD
rs781606251 CA400836295	1290	K>N		No	ClinGen ExAC TOPMed gnomAD
rs952335934 CA293352754	1291	K>E		No	ClinGen TOPMed gnomAD
rs755363323 CA8733744	1291	K>I		No	ClinGen ExAC gnomAD
CA8733743 rs767043474	1293	C>F		No	ClinGen ExAC TOPMed gnomAD
rs767043474 CA8733742	1293	C>S		No	ClinGen ExAC TOPMed gnomAD
CA400836273 rs1446048799	1294	F>L		No	ClinGen TOPMed
CA8733740 rs148324916	1297	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201442434 CA400836242	1298	K>R		No	ClinGen TOPMed gnomAD
CA8733739 rs144256500	1299	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA293352742 rs149559050	1303	A>T		No	ClinGen ESP gnomAD
rs776208870 CA8733737	1304	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400836196 rs1317071703	1305	N>S		No	ClinGen gnomAD
CA8733736 rs768497378	1306	I>V		No	ClinGen ExAC gnomAD
CA8733735 rs144845365	1308	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA400836156 rs1598442796	1311	Q>*		No	ClinGen Ensembl
CA8733733 rs772025517	1312	E>Q		No	ClinGen ExAC gnomAD
rs760476405 CA8733717	1314	E>K		No	ClinGen ExAC gnomAD
CA400836073 rs1194400879	1315	I>V		No	ClinGen TOPMed gnomAD
rs759455858 CA8733714	1318	L>F		No	ClinGen ExAC TOPMed gnomAD
CA8733715 rs771935597	1318	L>V		No	ClinGen ExAC gnomAD
rs774339233 CA8733713	1319	L>R		No	ClinGen ExAC gnomAD
CA8733712 rs141017176	1320	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8733710 rs776865215	1321	P>H		No	ClinGen ExAC gnomAD
rs776865215 CA8733711	1321	P>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA400836001 rs1235193584	1322	N>D		No	ClinGen gnomAD
VAR_027580 CA8733708 rs2302134	1322	N>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1237552960 CA400835990	1323	G>A		No	ClinGen gnomAD
rs1237552960 CA400835989	1323	G>D		No	ClinGen gnomAD
CA400835948 rs1196523593	1327	S>T		No	ClinGen gnomAD
rs746376913 CA8733705	1329	S>P		No	ClinGen ExAC gnomAD
CA8733704 rs779605792	1330	I>V		No	ClinGen ExAC gnomAD
CA400835900 COSM97918 rs1278782302	1331	R>K	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
CA400835896 rs1313583891	1331	R>S		No	ClinGen TOPMed
CA400835850 rs1245631128	1334	S>C		No	ClinGen gnomAD
rs1257226694 CA400835788	1338	K>N		No	ClinGen TOPMed
CA8733701 rs763733392	1340	T>A		No	ClinGen ExAC gnomAD
CA8733702 rs763733392	1340	T>S		No	ClinGen ExAC gnomAD
CA8733700 rs561371331	1341	A>S		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1341	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400835744 rs1323338862	1341	A>V		No	ClinGen gnomAD
rs200806055 CA293352235	1343	E>K		No	ClinGen 1000Genomes
CA400834802 rs1156333326	1345	E>A		No	ClinGen TOPMed gnomAD
rs1441392489 CA400834794	1345	E>D		No	ClinGen gnomAD
CA293351963 rs971525783	1347	K>*		No	ClinGen TOPMed
CA8733677 rs140310197	1348	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8733678 rs531863229	1348	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs140310197 CA8733676	1348	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293351956 rs994358188	1350	S>N		No	ClinGen TOPMed
rs1248644119 CA400834661	1354	G>V		No	ClinGen gnomAD
rs1488099172 CA400834652	1355	H>L		No	ClinGen gnomAD
CA8733673 rs762811326	1357	G>A		No	ClinGen ExAC TOPMed gnomAD
CA400834616 rs762811326	1357	G>E		No	ClinGen ExAC TOPMed gnomAD
CA8733670 rs77542162	1359	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182377176 CA8733669	1360	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188158113 CA8733668	1360	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs182377176 CA400834555	1360	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA400834527 rs1405130980	1361	Q>*		No	ClinGen gnomAD
rs1295742197 CA400834474	1363	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8733667 rs759910624	1363	N>S		No	ClinGen ExAC gnomAD
rs1175075214 CA400834464	1364	V>L		No	ClinGen TOPMed
CA400834432 rs1345711490	1366	W>R		No	ClinGen gnomAD
CA400834406 rs1175329718	1367	P>L		No	ClinGen gnomAD
rs774589393 CA8733666	1368	M>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1369	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs578247411 CA8733665	1369	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs369645216 CA293351869	1370	T>M		No	ClinGen Ensembl
rs778383822 CA8733663	1371	L>F		No	ClinGen ExAC gnomAD
CA8733662 rs142075639	1372	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA400834317 rs1195926580	1375	L>V		No	ClinGen gnomAD
CA8733661 rs747677895	1377	V>M		No	ClinGen ExAC TOPMed gnomAD
rs149025377 CA8733659	1379	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751297791 CA8733658	1381	V>I		No	ClinGen ExAC gnomAD
rs1251154359 CA400834231	1382	K>N		No	ClinGen gnomAD
rs544457483 CA8733656	1384	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8733655 rs527461596	1387	A>G		No	ClinGen ExAC TOPMed gnomAD
rs527461596 CA8733654 COSM273820	1387	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767787424 CA293351789	1389	A>E		No	ClinGen ExAC gnomAD
rs767787424 CA8733651	1389	A>G		No	ClinGen ExAC gnomAD
rs1347446998 CA400834150	1390	R>S		No	ClinGen TOPMed
CA400834133 rs1464967295	1392	A>D		No	ClinGen TOPMed gnomAD
CA8733648 rs771167668	1392	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1173154389 CA400834115	1394	A>S		No	ClinGen gnomAD
rs1173154389 CA400834114	1394	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1395	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1429360903 CA400834103	1395	R>K		No	ClinGen gnomAD
CA8733625 CA8733624 rs777188865	1403	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1567995101 CA400833822	1404	E>D		No	ClinGen Ensembl
rs1343368627 CA400833808	1405	Q>P		No	ClinGen TOPMed
TCGA novel	1407	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774961165 CA400833756	1408	V>I		No	ClinGen ExAC TOPMed gnomAD
rs774961165 CA8733621	1408	V>L		No	ClinGen ExAC TOPMed gnomAD
CA400833719 rs1158160536	1410	V>E		No	ClinGen gnomAD
rs1225840676 CA400833710	1411	Q>*		No	ClinGen TOPMed
rs771791554 CA8733619	1411	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA400833683 rs1382715721	1412	K>T		No	ClinGen gnomAD
rs1182967825 CA400833634	1414	T>A		No	ClinGen gnomAD
rs1189049628 CA400833490	1417	I>V		No	ClinGen gnomAD
rs139185299 CA8733615	1418	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139185299 CA8733616	1418	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1344262043 CA400833148	1421	L>S		No	ClinGen gnomAD
rs756081786 CA8733592	1423	F>L		No	ClinGen ExAC gnomAD
rs1277882139 CA400832990	1429	G>R		No	ClinGen gnomAD
CA293351256 rs1013875267	1432	P>A		No	ClinGen TOPMed
CA400832890 CA8733589 rs758474711	1434	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1567994787 CA400832864	1436	L>P		No	ClinGen Ensembl
rs1395884911 CA400832858	1437	D>A		No	ClinGen gnomAD
CA8733588 rs750615009	1437	D>N		No	ClinGen ExAC gnomAD
rs765495829 CA8733587	1438	E>*		No	ClinGen ExAC gnomAD
CA293351242 rs759401521	1438	E>G		No	ClinGen gnomAD
CA293351233 rs367608921	1439	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8733585 rs367608921	1439	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA400832804 rs367608921	1439	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8733586 rs143796127	1439	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400832815 rs143796127	1439	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764521650 CA400832798	1440	S>P		No	ClinGen ExAC gnomAD
rs764521650 CA8733584	1440	S>T		No	ClinGen ExAC gnomAD
rs374345743 CA8733583	1441	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA8733582 rs140087185	1441	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1205330160 CA400832751	1443	I>M		No	ClinGen gnomAD
rs370375475 CA8733580	1443	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs767019464 CA8733581	1443	I>V		No	ClinGen ExAC TOPMed gnomAD
rs774096625 CA8733579	1444	D>E		No	ClinGen ExAC gnomAD
rs770737205 CA8733578	1445	P>A		No	ClinGen ExAC gnomAD
rs770737205 CA400832734	1445	P>T		No	ClinGen ExAC gnomAD
CA293351167 rs1049933941	1447	G>E		No	ClinGen Ensembl
rs773154094 CA8733576	1447	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1270784792 CA400832683	1448	Q>P		No	ClinGen gnomAD
rs769536353 CA8733575	1449	Q>*		No	ClinGen ExAC gnomAD
rs748112766 CA8733574	1449	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	1451	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA400832631 rs781033944	1451	M>L		No	ClinGen ExAC gnomAD
rs933937884 CA293351124	1451	M>T		No	ClinGen TOPMed
CA8733573 rs781033944	1451	M>V		No	ClinGen ExAC gnomAD
CA400832069 rs1194460228	1452	W>*		No	ClinGen TOPMed
rs1255130639 CA400832065	1453	Q>K		No	ClinGen TOPMed
CA8733548 rs756449112	1454	A>P		No	ClinGen ExAC TOPMed gnomAD
rs756449112 CA8733547	1454	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1170659488 CA400832029	1454	A>V		No	ClinGen TOPMed
rs753033213 CA400832004	1456	Q>*		No	ClinGen ExAC gnomAD
rs753033213 CA8733546	1456	Q>E		No	ClinGen ExAC gnomAD
rs781673805 CA8733545	1457	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1458	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752169862 CA8733543	1459	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA400831916 rs1353601202	1461	N>S		No	ClinGen gnomAD
rs1385742036 CA400831893	1462	T>I		No	ClinGen TOPMed
rs143326198 CA400831888	1463	E>K		No	ClinGen 1000Genomes TOPMed gnomAD
CA8733541 rs143326198 COSM1303261	1463	E>Q	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes TOPMed gnomAD
CA8733540 rs765984300	1463	E>V		No	ClinGen ExAC gnomAD
CA400831876 rs1374573745	1464	R>K		No	ClinGen gnomAD
rs776297059 CA8733534	1471	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1359790991 CA400831778	1471	H>Y		No	ClinGen gnomAD
rs764039055 CA400831761	1472	N>K		No	ClinGen ExAC gnomAD
rs1408390292 CA400831756	1473	L>P		No	ClinGen gnomAD
CA400831753 rs1225928945	1474	A>P		No	ClinGen TOPMed
rs760596501 CA293350617	1476	A>G		No	ClinGen ExAC TOPMed gnomAD
rs760596501 CA8733532	1476	A>V		No	ClinGen ExAC TOPMed gnomAD
rs117323775 CA8733529	1478	A>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1479	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1163170 rs181258241 CA8733528	1482	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs200105664 CA8733527	1482	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8733525 rs201717023	1484	A>T		No	ClinGen ExAC TOPMed gnomAD
CA8733524 rs781396888	1486	M>V		No	ClinGen ExAC gnomAD
rs1217890083 CA400831634	1489	G>R		No	ClinGen gnomAD
rs1165087835 CA400831617	1490	R>S		No	ClinGen TOPMed
CA293350573 rs878981507	1491	L>F		No	ClinGen Ensembl
rs370909955 CA8733505	1493	C>R		No	ClinGen ESP ExAC TOPMed
CA8733504 rs747401146	1493	C>W		No	ClinGen ExAC gnomAD
CA8733503 rs144815656	1494	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1407970917 CA400831545	1494	I>V		No	ClinGen gnomAD
rs1567993615 CA400831525	1496	S>T		No	ClinGen Ensembl
rs971749656 CA293350438	1497	I>N		No	ClinGen TOPMed
CA400831481 rs1353032841	1500	L>M		No	ClinGen gnomAD
rs1172612972 CA400831470	1501	K>*		No	ClinGen gnomAD
CA400831460 rs1429235172	1502	N>D		No	ClinGen gnomAD
rs745329177 CA8733502	1502	N>S		No	ClinGen ExAC gnomAD
rs745329177 CA8733501	1502	N>T		No	ClinGen ExAC gnomAD
CA400831439 rs1255039397	1503	K>N		No	ClinGen TOPMed gnomAD
CA400831433 rs1270930614	1504	L>F		No	ClinGen TOPMed
rs909477769 CA293350422	1505	G>R		No	ClinGen TOPMed gnomAD
CA400831427 rs909477769	1505	G>S		No	ClinGen TOPMed gnomAD
rs1244054063 CA400831387	1507	D>E		No	ClinGen gnomAD
TCGA novel	1508	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778277038 CA8733499	1508	Y>N		No	ClinGen ExAC gnomAD
TCGA novel	1510	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753405366 CA8733497	1514	V>A		No	ClinGen ExAC TOPMed gnomAD
rs753405366 CA8733498	1514	V>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1515	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733496 rs377673526	1517	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs377673526 CA8733495	1517	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs767382213 CA8733493	1518	S>F		No	ClinGen ExAC gnomAD
rs759377509 CA8733492	1519	Q>E		No	ClinGen ExAC gnomAD
rs905161771 CA293350394 CA400831167	1520	V>L		No	ClinGen TOPMed gnomAD
TCGA novel	1522	L>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1315451353 CA400831126	1522	L>V		No	ClinGen gnomAD
rs1598438713 CA400831068	1524	H>L		No	ClinGen Ensembl
rs868185042 CA293350391	1524	H>Y		No	ClinGen Ensembl
CA400831063 rs1300162072	1525	T>A		No	ClinGen gnomAD
rs1462707257 CA400830990	1527	I>T		No	ClinGen gnomAD
rs1161752649 CA400830906	1531	F>S		No	ClinGen gnomAD
CA400830866 rs1386471968	1533	Q>*		No	ClinGen gnomAD
TCGA novel	1533	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA293350357 rs184811201	1535	A>T		No	ClinGen 1000Genomes
rs762003028 CA8733488	1535	A>V		No	ClinGen ExAC gnomAD
rs1178531179 CA400830801	1537	Q>R		No	ClinGen gnomAD
rs769032135 CA8733486	1539	R>T		No	ClinGen ExAC TOPMed gnomAD
rs775924900 CA8733466	1542	S>F		No	ClinGen ExAC TOPMed gnomAD
rs759963405 CA8733463	1543	L>F		No	ClinGen ExAC gnomAD
CA400829643 rs1483091987	1546	Y>C		No	ClinGen TOPMed
rs757528776 CA8733461	1547	K>I		No	ClinGen ExAC gnomAD
CA293349403 rs911766369	1549	P>L		No	ClinGen TOPMed
CA400829555 rs1323086681	1549	P>S		No	ClinGen gnomAD
TCGA novel	1550	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148075714 CA8733459	1550	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs565714382 CA8733458	1552	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs187301384 CA8733455	1553	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8733456 rs187301384	1553	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746853502 CA8733452	1555	P>L		No	ClinGen ExAC gnomAD
CA8733453 rs754681435	1555	P>S		No	ClinGen ExAC gnomAD
CA8733451 rs146030856	1556	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400829360 rs1173748238	1556	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8733449 rs750446433	1560	F>L		No	ClinGen ExAC gnomAD
CA293349378 rs771383876	1561	H>Q		No	ClinGen Ensembl
rs1598437041 CA400829116	1562	K>N		No	ClinGen Ensembl
CA8733448 rs543264013	1563	L>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8733447 rs756305744	1563	L>F		No	ClinGen ExAC gnomAD
CA400829105 rs543264013	1563	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8733446 rs201465039	1565	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA8733445 rs142707204	1565	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs373817866 CA8733429	1568	H>N		No	ClinGen ExAC TOPMed gnomAD
CA400828660 rs1462293121	1568	H>P		No	ClinGen gnomAD
rs1462293121 CA400828662	1568	H>R		No	ClinGen gnomAD
rs756219509 CA8733428	1569	N>K		No	ClinGen ExAC gnomAD
CA400828624 rs1381241015	1571	N>H		No	ClinGen gnomAD
TCGA novel	1574	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733426 rs767573892 CA400828482	1576	S>R		No	ClinGen ExAC TOPMed gnomAD
CA8733425 rs138116973	1577	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA293348600 rs183916514	1578	S>Y		No	ClinGen 1000Genomes
TCGA novel	1579	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8733424 rs145490715	1581	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368862101 CA8733411	1585	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165335544 CA8733408	1589	L>F		No	ClinGen gnomAD
CA400828140 rs769916771	1590	S>A		No	ClinGen ExAC TOPMed gnomAD
CA8733407 rs769916771	1590	S>P		No	ClinGen ExAC TOPMed gnomAD
rs771017491 CA8733406 COSM417377	1592	E>Q	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA8733405 rs374721153	1593	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA400828023 rs1598435109	1595	V>L		No	ClinGen Ensembl
CA400827982 rs1348713735	1597	N>S		No	ClinGen TOPMed gnomAD
COSM3735163 rs527442127 CA8733404	1600	E>K	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA400827902 rs1598435093	1601	E>*		No	ClinGen Ensembl
rs1413062035 CA400827854	1603	D>N		No	ClinGen gnomAD
CA8733402 rs755081311	1605	T>A		No	ClinGen ExAC gnomAD
rs751793678 COSM194145 CA8733401	1606	M>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1035551340 CA293348506	1606	M>V		No	ClinGen TOPMed
rs1237270711 CA400827762	1608	W>R		No	ClinGen TOPMed
rs148870578 COSM473272 CA8733399	1609	K>R	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs1446937140 CA400827673	1611	L>P		No	ClinGen gnomAD
CA293348502 COSM1684844 rs865813860	1613	H>Y	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA400827613 rs1185330594	1615	D>Y		No	ClinGen TOPMed
rs1352394991 CA400827564	1617	P>R		No	ClinGen gnomAD
CA400827569 rs1225892879	1617	P>T		No	ClinGen gnomAD

No associated diseases with Q8N139

6 regional properties for Q8N139

Type	Name	Position	InterPro Accession
domain	ABC transporter-like, ATP-binding domain	478 - 713	IPR003439-1
domain	ABC transporter-like, ATP-binding domain	1288 - 1513	IPR003439-2
domain	AAA+ ATPase domain	506 - 690	IPR003593-1
domain	AAA+ ATPase domain	1312 - 1490	IPR003593-2
domain	ABC-2 type transporter, transmembrane domain	33 - 416	IPR013525-1
domain	ABC-2 type transporter, transmembrane domain	867 - 1167	IPR013525-2

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

4 GO annotations of molecular function

Name	Definition
ABC-type transporter activity	Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane.
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATPase-coupled transmembrane transporter activity	Primary active transporter of a solute across a membrane, via the reaction: ATP + H2O = ADP + phosphate, to directly drive the transport of a substance across a membrane. The transport protein may be transiently phosphorylated (P-type transporters), or not (ABC-type transporters and other families of transporters). Primary active transport occurs up the solute's concentration gradient and is driven by a primary energy source.
lipid transporter activity	Enables the directed movement of lipids into, out of or within a cell, or between cells.

1 GO annotations of biological process

Name	Definition
lipid transport	The directed movement of lipids into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Lipids are compounds soluble in an organic solvent but not, or sparingly, in an aqueous solvent.

12 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P78363	ABCA4	Retinal-specific phospholipid-transporting ATPase ABCA4	Homo sapiens (Human)	PR
Q8IUA7	ABCA9	ATP-binding cassette sub-family A member 9	Homo sapiens (Human)	PR
Q8WWZ4	ABCA10	ATP-binding cassette sub-family A member 10	Homo sapiens (Human)	PR
Q8WWZ7	ABCA5	Cholesterol transporter ABCA5	Homo sapiens (Human)	PR
Q86UK0	ABCA12	Glucosylceramide transporter ABCA12	Homo sapiens (Human)	PR
Q8K442	Abca8a	ABC-type organic anion transporter ABCA8A	Mus musculus (Mouse)	PR
Q8K448	Abca5	Cholesterol transporter ABCA5	Mus musculus (Mouse)	PR
Q8K449	Abca9	ATP-binding cassette sub-family A member 9	Mus musculus (Mouse)	PR
P34358	ced-7	ABC transporter ced-7	Caenorhabditis elegans	PR
Q84K47	ABCA2	ABC transporter A family member 2	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FKF2	ABCA11	ABC transporter A family member 11	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLT5	ABCA9	ABC transporter A family member 9	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MNMKQKSVYQ	QTKALLCKNF	LKKWRMKRES	LLEWGLSILL	GLCIALFSSS	MRNVQFPGMA
70	80	90	100	110	120
PQNLGRVDKF	NSSSLMVVYT	PISNLTQQIM	NKTALAPLLK	GTSVIGAPNK	THMDEILLEN
130	140	150	160	170	180
LPYAMGIIFN	ETFSYKLIFF	QGYNSPLWKE	DFSAHCWDGY	GEFSCTLTKY	WNRGFVALQT
190	200	210	220	230	240
AINTAIIEIT	TNHPVMEELM	SVTAITMKTL	PFITKNLLHN	EMFILFFLLH	FSPLVYFISL
250	260	270	280	290	300
NVTKERKKSK	NLMKMMGLQD	SAFWLSWGLI	YAGFIFIISI	FVTIIITFTQ	IIVMTGFMVI
310	320	330	340	350	360
FILFFLYGLS	LVALVFLMSV	LLKKAVLTNL	VVFLLTLFWG	CLGFTVFYEQ	LPSSLEWILN
370	380	390	400	410	420
ICSPFAFTTG	MIQIIKLDYN	LNGVIFPDPS	GDSYTMIATF	SMLLLDGLIY	LLLALYFDKI
430	440	450	460	470	480
LPYGDERHYS	PLFFLNSSSC	FQHQRTNAKV	IEKEIDAEHP	SDDYFEPVAP	EFQGKEAIRI
490	500	510	520	530	540
RNVKKEYKGK	SGKVEALKGL	LFDIYEGQIT	AILGHSGAGK	SSLLNILNGL	SVPTEGSVTI
550	560	570	580	590	600
YNKNLSEMQD	LEEIRKITGV	CPQFNVQFDI	LTVKENLSLF	AKIKGIHLKE	VEQEVQRILL
610	620	630	640	650	660
ELDMQNIQDN	LAKHLSEGQK	RKLTFGITIL	GDPQILLLDE	PTTGLDPFSR	DQVWSLLRER
670	680	690	700	710	720
RADHVILFST	QSMDEADILA	DRKVIMSNGR	LKCAGSSMFL	KRRWGLGYHL	SLHRNEICNP
730	740	750	760	770	780
EQITSFITHH	IPDAKLKTEN	KEKLVYTLPL	ERTNTFPDLF	SDLDKCSDQG	VTGYDISMST
790	800	810	820	830	840
LNEVFMKLEG	QSTIEQDFEQ	VEMIRDSESL	NEMELAHSSF	SEMQTAVSDM	GLWRMQVFAM
850	860	870	880	890	900
ARLRFLKLKR	QTKVLLTLLL	VFGIAIFPLI	VENIMYAMLN	EKIDWEFKNE	LYFLSPGQLP
910	920	930	940	950	960
QEPRTSLLII	NNTESNIEDF	IKSLKHQNIL	LEVDDFENRN	GTDGLSYNGA	IIVSGKQKDY
970	980	990	1000	1010	1020
RFSVVCNTKR	LHCFPILMNI	ISNGLLQMFN	HTQHIRIESS	PFPLSHIGLW	TGLPDGSFFL
1030	1040	1050	1060	1070	1080
FLVLCSISPY	ITMGSISDYK	KNAKSQLWIS	GLYTSAYWCG	QALVDVSFFI	LILLLMYLIF
1090	1100	1110	1120	1130	1140
YIENMQYLLI	TSQIVFALVI	VTPGYAASLV	FFIYMISFIF	RKRRKNSGLW	SFYFFFASTI
1150	1160	1170	1180	1190	1200
MFSITLINHF	DLSILITTMV	LVPSYTLLGF	KTFLEVRDQE	HYREFPEANF	ELSATDFLVC
1210	1220	1230	1240	1250	1260
FIPYFQTLLF	VFVLRCMELK	CGKKRMRKDP	VFRISPQSRD	AKPNPEEPID	EDEDIQTERI
1270	1280	1290	1300	1310	1320
RTATALTTSI	LDEKPVIIAS	CLHKEYAGQK	KSCFSKRKKK	IAARNISFCV	QEGEILGLLG
1330	1340	1350	1360	1370	1380
PNGAGKSSSI	RMISGITKPT	AGEVELKGCS	SVLGHLGYCP	QENVLWPMLT	LREHLEVYAA
1390	1400	1410	1420	1430	1440
VKGLRKADAR	LAIARLVSAF	KLHEQLNVPV	QKLTAGITRK	LCFVLSLLGN	SPVLLLDEPS
1450	1460	1470	1480	1490	1500
TGIDPTGQQQ	MWQAIQAVVK	NTERGVLLTT	HNLAEAEALC	DRVAIMVSGR	LRCIGSIQHL
1510	1520	1530	1540	1550	1560
KNKLGKDYIL	ELKVKETSQV	TLVHTEILKL	FPQAAGQERY	SSLLTYKLPV	ADVYPLSQTF
1570	1580	1590	1600	1610
HKLEAVKHNF	NLEEYSLSQC	TLEKVFLELS	KEQEVGNFDE	EIDTTMRWKL	LPHSDEP