AiPD: Autoinhibited Protein Database

O00192

Gene name	ARVCF
Protein name	Splicing regulator ARVCF
Names	Armadillo repeat protein deleted in velo-cardio-facial syndrome
Species	Homo sapiens (Human)
KEGG Pathway	hsa:421
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

149-371 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

149-371 (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 O00192

Entry ID	Method	Resolution	Chain	Position	Source
AF-O00192-F1	Predicted				AlphaFoldDB

1070 variants for O00192

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs763923625 RCV000190142 CA204086	598	G>R	Long QT syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001252924 CA10105424 rs763980870	613	D>N	Microcephaly [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA410702594 rs770488517	2	E>D		No	ClinGen ExAC TOPMed gnomAD
CA410702581 rs1271913721	4	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs373005333 CA10106045	5	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10106044 rs772715007	5	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1462188407 CA410702557	7	H>Q		No	ClinGen gnomAD
rs747809824 CA10106042	8	S>*		No	ClinGen ExAC TOPMed gnomAD
CA322135108 rs747809824	8	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1397090896 CA410702555	8	S>P		No	ClinGen TOPMed gnomAD
rs564039429 CA10106040	9	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA10106038 rs540820113	10	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	11	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410702538 rs1193834632	11	S>T		No	ClinGen gnomAD
CA10106035 rs764185223	14	A>G		No	ClinGen ExAC gnomAD
CA10106037 rs200353808	14	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200353808 CA10106036	14	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10106033 rs752933705	15	S>L		No	ClinGen ExAC TOPMed gnomAD
CA10106030 rs559779679	16	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410702501 rs1368818151	18	E>K		No	ClinGen gnomAD
CA10106029 rs766879355	19	Q>H		No	ClinGen ExAC gnomAD
rs761208243 CA10106028	21	A>S		No	ClinGen ExAC TOPMed gnomAD
rs375705384 CA10106027	22	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs186539515 CA10106026	22	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410702470 rs186539515	22	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1047930202 CA410702462	23	F>L		No	ClinGen gnomAD
rs761435737 CA10106025	24	E>K		No	ClinGen ExAC TOPMed gnomAD
CA410702440 rs1433433985	27	T>S		No	ClinGen gnomAD
CA10106023 rs369898205	28	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10106024 rs574097179	28	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1455236016 CA410702431	29	A>T		No	ClinGen gnomAD
CA10106022 rs749098376	29	A>V		No	ClinGen ExAC TOPMed gnomAD
CA410702425 rs1176312065	30	L>P		No	ClinGen TOPMed gnomAD
rs1480826391 CA410702423	31	E>K		No	ClinGen gnomAD
COSM1414922 rs745796776 CA10106019	34	R>Q	large_intestine Variant assessed as Somatic; 0.0005235 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM3693942 rs116782322 RCV000887211 CA10106020	34	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10106018 rs537459444	35	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410702393 rs1279627231	35	R>H		No	ClinGen TOPMed gnomAD
rs1240205603 CA410702364	40	Q>*		No	ClinGen gnomAD
CA10106016 rs752922654	43	R>C		No	ClinGen ExAC TOPMed gnomAD
rs148470336 CA10106015	43	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA322135092 rs752922654	43	R>S		No	ClinGen ExAC TOPMed gnomAD
CA410702337 rs1310242568	44	A>V		No	ClinGen gnomAD
CA322135090 rs990518598	45	Q>*		No	ClinGen TOPMed
CA10106014 rs755129740	47	P>A		No	ClinGen ExAC TOPMed gnomAD
CA410702320 rs755129740	47	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1314091524 CA410702312	48	G>D		No	ClinGen gnomAD
CA410702300 rs1467100754	50	V>I		No	ClinGen gnomAD
CA410702291 rs1361615146	51	S>N		No	ClinGen gnomAD
CA10106012 rs113146115	53	G>D		No	ClinGen ExAC TOPMed
rs1409808580 CA410702268	54	M>I		No	ClinGen gnomAD
CA10106011 rs766685086	54	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1569178510 CA410702263	55	G>A		No	ClinGen Ensembl
CA410702258 rs1569178491	56	S>I		No	ClinGen Ensembl
CA410702254 rs1601635259	56	S>R		No	ClinGen Ensembl
CA410702261 rs1185549276	56	S>R		No	ClinGen gnomAD
TCGA novel	57	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601635232 CA410702243	58	Q>P		No	ClinGen Ensembl
CA10106009 rs750934045	61	P>A		No	ClinGen ExAC gnomAD
rs750934045 CA410702228	61	P>S		No	ClinGen ExAC gnomAD
CA410702222 rs1212988679	62	M>V		No	ClinGen TOPMed gnomAD
CA410702212 rs1569178443	63	A>S		No	ClinGen Ensembl
TCGA novel	63	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10106008 rs766991110	66	Q>R		No	ClinGen ExAC gnomAD
rs1601635142 CA410702175	68	V>G		No	ClinGen Ensembl
CA410702167 rs1487959687	70	Q>K		No	ClinGen TOPMed
rs761398105 CA10106007	70	Q>R		No	ClinGen ExAC gnomAD
rs954764160 CA322132817	71	E>K		No	ClinGen TOPMed
rs775384978 CA10105955	74	P>A		No	ClinGen ExAC
rs1336258705 CA410702070	75	G>S		No	ClinGen gnomAD
CA410702045 rs1396505662	78	A>V		No	ClinGen gnomAD
CA10105953 rs746047379	81	A>D		No	ClinGen ExAC gnomAD
rs1160229845 CA410702029	81	A>T		No	ClinGen gnomAD
rs746047379 CA410702027	81	A>V		No	ClinGen ExAC gnomAD
rs1416169283 CA410702021	82	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10105952 rs781657513	84	P>A		No	ClinGen ExAC gnomAD
CA10105951 rs757682851	84	P>L		No	ClinGen ExAC TOPMed gnomAD
CA410702003 rs1213025391	85	E>G		No	ClinGen gnomAD
rs1445989889 CA410701994	86	A>V		No	ClinGen gnomAD
rs1210264281 CA410701977	89	V>L		No	ClinGen TOPMed gnomAD
rs1210264281 CA410701979	89	V>M		No	ClinGen TOPMed gnomAD
CA10105950 rs747584899	90	L>R		No	ClinGen ExAC gnomAD
CA322132809 rs996108661	91	E>V		No	ClinGen Ensembl
CA410701957 rs1489544082	92	E>V		No	ClinGen gnomAD
rs778427475 CA10105949	93	T>N		No	ClinGen ExAC TOPMed gnomAD
rs754696774 CA10105945	94	V>A		No	ClinGen ExAC gnomAD
CA10105946 rs371690919	94	V>L		No	ClinGen ExAC TOPMed gnomAD
rs371690919 CA10105947	94	V>M		No	ClinGen ExAC TOPMed gnomAD
rs553153433 CA10105944	95	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410701937 rs1325975656	96	V>A		No	ClinGen gnomAD
rs112445756 CA322132804	97	E>*		No	ClinGen Ensembl
rs369902981 CA10105943	98	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA410701921 rs1459047526	99	D>N		No	ClinGen gnomAD
CA410701907 rs1164678175	101	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766898813 CA322132802	102	T>A		No	ClinGen TOPMed gnomAD
rs750163929 CA10105941	104	T>I		No	ClinGen ExAC gnomAD
rs1486164038 CA410701888	104	T>S		No	ClinGen TOPMed gnomAD
CA410701883 rs1332391946	105	S>A		No	ClinGen TOPMed
rs377702492 CA322132800	106	H>R		No	ClinGen ESP TOPMed
CA10105939 rs761700407	108	S>F		No	ClinGen ExAC TOPMed gnomAD
rs202223185 CA10105938	109	I>V		No	ClinGen ExAC TOPMed gnomAD
CA10105935 rs776714192	111	T>A		No	ClinGen ExAC gnomAD
CA410701843 rs1252051586	112	S>P		No	ClinGen gnomAD
CA10105932 rs201328909	113	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1164610645 CA410701806	117	T>I		No	ClinGen TOPMed
CA10105929 rs778530843	118	R>Q		No	ClinGen ExAC
rs372018220 CA10105930	118	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs754446500 CA10105928	119	R>C		No	ClinGen ExAC TOPMed gnomAD
rs181094016 CA10105927	119	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181094016 CA410701799	119	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs948347766 CA10105924	121	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10105923 rs755717732	123	K>E		No	ClinGen ExAC TOPMed gnomAD
CA10105902 rs756998917	124	V>I		No	ClinGen ExAC TOPMed gnomAD
rs756998917 CA410701760	124	V>L		No	ClinGen ExAC TOPMed gnomAD
rs971128498 CA322132727	127	T>S		No	ClinGen TOPMed gnomAD
CA10105900 rs763951982	128	V>G		No	ClinGen ExAC TOPMed gnomAD
rs751302227 CA10105901	128	V>I		No	ClinGen ExAC TOPMed gnomAD
rs758305327 CA10105899	130	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1214111214 CA410701715	131	V>A		No	ClinGen TOPMed
rs766533291 CA10105897	132	T>I		No	ClinGen ExAC TOPMed gnomAD
CA410701710 rs766533291	132	T>N		No	ClinGen ExAC TOPMed gnomAD
CA10105898 rs753999542	132	T>S		No	ClinGen ExAC gnomAD
CA10105895 rs773551401	133	T>I		No	ClinGen ExAC TOPMed gnomAD
CA410701703 rs1413505607	134	R>Q		No	ClinGen gnomAD
rs767785254 CA10105894	134	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA322132718 rs898356952	135	T>K		No	ClinGen TOPMed
CA322132716 rs865811145	137	R>C	Variant assessed as Somatic; 4.963e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10105893 rs745686717	137	R>H		No	ClinGen ExAC gnomAD
rs202161313 CA322132713	139	V>L		No	ClinGen 1000Genomes
rs1158017289 CA410701671	140	P>A		No	ClinGen gnomAD
CA10105892 rs774731678	140	P>L		No	ClinGen ExAC gnomAD
CA10105888 rs200408513	141	V>A		No	ClinGen 1000Genomes ExAC gnomAD
CA10105890 rs375457783	141	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105889 rs375457783	141	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA410701656 rs1282188998	143	P>A		No	ClinGen TOPMed gnomAD
CA410701643 rs745587564	145	G>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10105887 rs745587564	145	G>R		No	ClinGen ExAC gnomAD
rs1182510016 CA410701634	146	L>R		No	ClinGen gnomAD
rs1259158894 CA410701626	148	L>V		No	ClinGen gnomAD
RCV000958801 rs113625788 CA10105883	150	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758304675 CA10105882	151	G>D		No	ClinGen ExAC gnomAD
CA10105880 rs192066432	152	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410701599 rs1314152268	153	P>A		No	ClinGen gnomAD
rs750476898 CA10105878	154	P>L		No	ClinGen ExAC TOPMed gnomAD
CA410701592 rs750476898	154	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA10105879 rs750476898	154	P>R		No	ClinGen ExAC TOPMed gnomAD
rs954800506 CA322132699	154	P>S		No	ClinGen Ensembl
CA322132695 rs544946231	156	G>D		No	ClinGen 1000Genomes
rs921999506 CA322132690	157	P>R		No	ClinGen TOPMed
rs767659482 CA10105877	157	P>S		No	ClinGen ExAC TOPMed gnomAD
rs946101804 CA322132688	158	F>S		No	ClinGen TOPMed
CA322132685 rs914740422	160	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10105875 rs762058262	161	G>V		No	ClinGen ExAC gnomAD
rs1234609292 CA410701552	162	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs774621901 CA10105874	164	D>G		No	ClinGen ExAC TOPMed gnomAD
CA10105872 rs375865872	165	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs370509242 CA10105873	165	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1476045358 CA410701527	166	H>R		No	ClinGen TOPMed
rs367655816 CA322132679	167	F>S		No	ClinGen Ensembl
CA10105871 rs775972411	170	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA322132676 rs775972411	170	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200007678 CA10105870	170	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA322132673 rs927534442	171	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	172	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776070419 CA10105868	174	P>L		No	ClinGen ExAC gnomAD
CA10105867 rs2240717 VAR_020408	175	V>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA410701474 rs1435296891	176	A>D		No	ClinGen gnomAD
CA322132667 rs950610029	176	A>T		No	ClinGen Ensembl
rs771883383 CA10105864	178	L>F		No	ClinGen ExAC TOPMed gnomAD
rs748159393 CA10105863	178	L>H		No	ClinGen ExAC TOPMed gnomAD
CA410701464 rs771883383	178	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1002477144 CA322132662	179	S>Y		No	ClinGen TOPMed gnomAD
CA410701456 rs779011702	180	R>*		No	ClinGen ExAC TOPMed gnomAD
CA10105862 rs779011702	180	R>G		No	ClinGen ExAC TOPMed gnomAD
rs574584542 CA10105860	180	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs1275279536 CA410701451	181	A>S		No	ClinGen TOPMed
rs750565044 CA10105858	184	S>G		No	ClinGen ExAC
CA410701431 rs1460404771	184	S>N		No	ClinGen gnomAD
rs751795468 CA10105855	186	G>R		No	ClinGen ExAC TOPMed gnomAD
CA10105856 rs751795468	186	G>W		No	ClinGen ExAC TOPMed gnomAD
CA10105854 rs764433186	189	F>L		No	ClinGen ExAC gnomAD
CA10105852 rs753001413	191	E>K		No	ClinGen ExAC gnomAD
CA322132647 rs5748493	192	G>R		No	ClinGen Ensembl
CA322132642 rs1053929245	193	P>S		No	ClinGen gnomAD
rs759993656 CA10105850	194	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	194	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10105849 rs776043051	195	P>S		No	ClinGen ExAC TOPMed gnomAD
rs80068543 CA10105847	196	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10105848 rs575209278	196	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752903962 CA322132637	198	S>G		No	ClinGen gnomAD
rs771553998 CA10105846	200	S>N		No	ClinGen ExAC TOPMed gnomAD
rs747983224 CA10105844	200	S>R		No	ClinGen ExAC gnomAD
rs771553998 CA10105845	200	S>T		No	ClinGen ExAC TOPMed gnomAD
rs781583126 CA322132631	201	Y>C		No	ClinGen gnomAD
rs781583126 CA410701327	201	Y>F		No	ClinGen gnomAD
rs1389518000 CA410701331	201	Y>N		No	ClinGen gnomAD
rs1325974913 CA410701323	202	G>S		No	ClinGen gnomAD
rs1430464986 CA410701315	203	S>N		No	ClinGen gnomAD
CA410701298 rs778815557	206	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1352121445 CA410701297	206	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	208	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768756338 CA10105842	209	G>D		No	ClinGen ExAC TOPMed gnomAD
CA410701283 rs1170998597	209	G>S		No	ClinGen TOPMed gnomAD
rs922048426 CA322132620	210	M>L		No	ClinGen Ensembl
rs1378518923 CA410701276	210	M>T		No	ClinGen TOPMed gnomAD
rs781187936 CA10105840	211	R>Q		No	ClinGen ExAC gnomAD
CA10105841 rs749218684	211	R>W		No	ClinGen ExAC TOPMed gnomAD
rs778071040 CA10105837	214	R>C		No	ClinGen ExAC gnomAD
rs570091802 CA10105836	214	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410701253 rs570091802	214	R>P		No	ClinGen ExAC TOPMed gnomAD
rs909054743 CA322132611	216	G>C		No	ClinGen gnomAD
rs1349966047 CA410701243	216	G>D		No	ClinGen TOPMed
rs1276316016 CA410701235	217	P>L		No	ClinGen gnomAD
CA410701226 rs1236573998	219	G>C		No	ClinGen gnomAD
CA10105834 rs2073748 VAR_033529	220	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35741134 CA322132608	221	G>S		No	ClinGen Ensembl
CA410701203 rs1438030334	223	G>D		No	ClinGen TOPMed gnomAD
rs754354099 CA10105832	224	D>G		No	ClinGen ExAC gnomAD
rs765867505 CA10105831	225	G>D		No	ClinGen ExAC gnomAD
CA410701179 rs1332293256	227	F>L		No	ClinGen gnomAD
rs760233166 CA10105830	227	F>S		No	ClinGen ExAC TOPMed gnomAD
CA10105828 rs767313178	228	T>I		No	ClinGen ExAC gnomAD
rs761528193 CA10105827	230	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1411726184 CA410701155	231	G>D		No	ClinGen TOPMed gnomAD
rs774340172 CA10105826	232	H>R		No	ClinGen ExAC TOPMed gnomAD
rs201393981 CA10105824	233	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs116398106 CA10105825	233	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410701142 rs1172293437	234	E>K		No	ClinGen TOPMed
rs1186218913 CA410701131	235	A>D		No	ClinGen TOPMed gnomAD
rs1186218913 CA410701130	235	A>G		No	ClinGen TOPMed gnomAD
rs1401997510 CA410701133	235	A>P		No	ClinGen TOPMed
CA410701127 rs1601606278	236	F>L		No	ClinGen Ensembl
rs769561393 CA10105822	237	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10105823 rs369256180	237	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA410701116 rs1304341526	238	V>M		No	ClinGen TOPMed
rs1268531607 CA410701108	239	G>C		No	ClinGen TOPMed gnomAD
CA10105820 rs777674943	239	G>V		No	ClinGen ExAC gnomAD
CA10105818 rs748346251	240	P>L		No	ClinGen ExAC gnomAD
rs376803100 CA10105819	240	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000678291 rs768824268	243	G>missing		No	ClinVar dbSNP
rs779305113 CA10105817	243	G>R		No	ClinGen ExAC gnomAD
CA410701075 rs1433171917	245	P>A		No	ClinGen TOPMed gnomAD
rs1433171917 CA410701074	245	P>S		No	ClinGen TOPMed gnomAD
rs868199752 CA322132571	246	G>D		No	ClinGen Ensembl
rs1447393002 CA410701069	246	G>R		No	ClinGen gnomAD
CA10105814 rs754080532	247	G>A		No	ClinGen ExAC TOPMed gnomAD
rs371762418 CA10105812	248	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105811 rs370815944	248	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1032946042 CA322132566	250	L>V		No	ClinGen TOPMed gnomAD
CA10105810 rs767116704	251	P>L		No	ClinGen ExAC gnomAD
CA10105808 rs774143695	252	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763775311 CA10105807	253	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10105806 rs762820819 COSM3693940	253	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA410701031 rs762820819	253	R>L		No	ClinGen ExAC TOPMed gnomAD
CA410701021 rs1160657710	255	Q>E		No	ClinGen TOPMed
rs1210357257 CA410701017	255	Q>L		No	ClinGen gnomAD
CA410701014 rs775100197	256	A>S		No	ClinGen ExAC gnomAD
CA10105805 rs775100197	256	A>T		No	ClinGen ExAC gnomAD
rs1289038491 CA410701012	256	A>V		No	ClinGen gnomAD
CA322132540 rs867185419	257	E>D		No	ClinGen Ensembl
CA10105804 rs139692477	258	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs567352971 CA10105802	258	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs567352971 CA10105803	258	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1226346101 CA410700995	259	Y>C		No	ClinGen TOPMed gnomAD
rs1569164352 CA410700988	260	G>A		No	ClinGen Ensembl
TCGA novel	261	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410700978 rs1437694728	262	E>K		No	ClinGen gnomAD
CA10105799 rs748432152	263	D>G		No	ClinGen ExAC TOPMed gnomAD
CA410700966 rs748432152	263	D>V		No	ClinGen ExAC TOPMed gnomAD
rs374797711 CA322132532	265	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105798 rs374797711	265	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs530645105 CA10105796	266	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142146674 CA10105795	266	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10105794 rs756697230	267	S>G		No	ClinGen ExAC gnomAD
rs1475685706 CA410700942	267	S>R		No	ClinGen gnomAD
CA410700937 rs1190167121	268	L>P		No	ClinGen gnomAD
CA10105792 rs767204635	270	A>T		No	ClinGen ExAC gnomAD
CA322132511 rs909282598	270	A>V		No	ClinGen gnomAD
rs983720927 CA322132509	271	D>N		No	ClinGen Ensembl
CA10105791 rs148369793	272	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105789 rs763863615	273	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1054586042 CA322132500	274	G>S		No	ClinGen TOPMed
rs1410274711 CA410700888	276	P>L		No	ClinGen TOPMed
rs1298543502 CA410700878	278	L>V		No	ClinGen TOPMed gnomAD
rs368570186 CA322132497	280	P>A		No	ClinGen ESP TOPMed gnomAD
rs1045846714 CA322132492	281	D>V		No	ClinGen TOPMed
CA410700846 rs1274647539	283	G>S		No	ClinGen gnomAD
CA10105787 rs528372866	284	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1293084631 CA410700840	284	T>P		No	ClinGen TOPMed
rs528372866 CA322132490	284	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	285	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs559641138 CA10105786	285	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA410700822 rs1326736671	287	R>K		No	ClinGen TOPMed
rs759575439 CA322132478	291	E>G		No	ClinGen ExAC TOPMed gnomAD
rs759575439 CA10105785	291	E>V		No	ClinGen ExAC TOPMed gnomAD
CA10105784 rs776542182	292	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs770784614 CA10105783	294	R>Q		No	ClinGen ExAC gnomAD
rs1431106241 CA410700778	294	R>W		No	ClinGen gnomAD
CA410700774 rs1294832482	295	G>R		No	ClinGen TOPMed
TCGA novel	296	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1332220515 CA410700763	297	H>N		No	ClinGen TOPMed
rs1478909058 CA410700751	298	T>S		No	ClinGen gnomAD
CA410700015 rs1601602587	300	A>T		No	ClinGen Ensembl
rs746260130 CA10105759	301	Y>C		No	ClinGen ExAC gnomAD
CA10105756 rs370262836	302	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105757 rs771604032	302	E>K		No	ClinGen ExAC TOPMed gnomAD
CA410699973 rs1207905461	303	D>E		No	ClinGen TOPMed
rs777399203 CA10105755	303	D>G		No	ClinGen ExAC gnomAD
rs1009201671 CA322132060	304	T>R		No	ClinGen TOPMed gnomAD
CA410699957 rs1422084347	305	A>E		No	ClinGen gnomAD
rs757840783 CA10105754	306	D>N		No	ClinGen ExAC gnomAD
rs551823558 CA10105753	306	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105751 rs754572947	307	D>V		No	ClinGen ExAC TOPMed gnomAD
CA10105752 rs778438760	307	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA410699932 rs1477386373	308	G>D		No	ClinGen TOPMed gnomAD
rs756104794 CA10105748	309	G>S		No	ClinGen ExAC TOPMed gnomAD
rs559742829 CA410699924	310	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10105746 rs559742829	310	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410699912 rs1482059243	312	A>T		No	ClinGen gnomAD
CA10105745 rs762956414 COSM1191728	312	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1362577498 CA410699902	313	D>G		No	ClinGen gnomAD
CA410699897 rs1435518574	314	E>Q		No	ClinGen gnomAD
CA10105742 rs759802785	315	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1386900021 CA410699889	315	R>W		No	ClinGen TOPMed gnomAD
CA410699884 rs1319316128	316	P>S		No	ClinGen gnomAD
rs777183505 CA10105741	317	A>T		No	ClinGen ExAC gnomAD
CA10105740 rs377012111	317	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs930809819 CA322132004	320	M>I		No	ClinGen gnomAD
CA322132007 rs201982556	320	M>V		No	ClinGen TOPMed gnomAD
rs773596699 CA10105738	322	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10105736 rs747629521	323	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10105735 rs778444959	324	P>L		No	ClinGen ExAC TOPMed gnomAD
CA322131978 rs919386271	326	A>T		No	ClinGen gnomAD
CA10105734 rs754677088	327	Q>H		No	ClinGen ExAC gnomAD
rs1296357724 CA410699821	327	Q>P		No	ClinGen gnomAD
CA10105733 rs748928698	328	P>A		No	ClinGen ExAC TOPMed gnomAD
CA10105731 rs564006969	329	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105732 rs564006969	329	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410699805 rs185461067	330	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105729 rs185461067	330	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750175188 CA10105730	330	R>W		No	ClinGen ExAC TOPMed gnomAD
rs984644186 CA322131958	331	G>D		No	ClinGen TOPMed
CA410699803 rs1466224881	331	G>S		No	ClinGen gnomAD
rs984644186 CA410699799	331	G>V		No	ClinGen TOPMed
rs1304928534 CA410699797	332	S>G		No	ClinGen gnomAD
CA322131956 rs952799636	332	S>R		No	ClinGen TOPMed gnomAD
rs1402492710 CA410699779	334	G>D		No	ClinGen TOPMed gnomAD
rs1368824467 CA410699771	335	S>I		No	ClinGen gnomAD
CA10105726 rs765336828	337	D>E		No	ClinGen ExAC TOPMed gnomAD
rs752761236 CA10105727	337	D>N		No	ClinGen ExAC TOPMed gnomAD
rs776989184 CA10105724	338	R>Q		No	ClinGen ExAC gnomAD
rs759894174 CA10105725	338	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10105722 rs761131337	340	V>G		No	ClinGen ExAC gnomAD
rs772484913 CA10105720	341	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773572767 CA10105721	341	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10105719 rs748654408	342	R>C		No	ClinGen ExAC TOPMed gnomAD
rs773794919 CA10105718	342	R>H		No	ClinGen ExAC TOPMed gnomAD
rs773794919 CA322131926	342	R>L		No	ClinGen ExAC TOPMed gnomAD
CA410699733 rs1253917363	343	S>L		No	ClinGen TOPMed gnomAD
COSM1682109 CA322131920 rs1033505830	344	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1331490520 CA410699730	344	P>S		No	ClinGen TOPMed gnomAD
rs1331490520 CA410699732	344	P>T		No	ClinGen TOPMed gnomAD
rs748734417 CA10105716	346	V>L		No	ClinGen ExAC TOPMed gnomAD
CA410699712 rs1348648509	347	D>G		No	ClinGen gnomAD
CA410699702 rs755715810 CA10105715	348	S>R		No	ClinGen ExAC TOPMed gnomAD
CA10105713 rs371573731	349	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1398870567 CA410699699	349	A>V		No	ClinGen gnomAD
CA10105711 rs534677992	350	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105710 rs376884775	350	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA322131905 rs376884775	350	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1349932646 CA751479601	350	R>L		No	ClinGen TOPMed
CA410699696 rs534677992	350	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1295831389 CA410699687	351	K>N		No	ClinGen TOPMed
CA410699681 rs1366042183	352	E>G		No	ClinGen TOPMed
rs779199880 CA10105709	353	P>L	Variant assessed as Somatic; 0.0006435 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410699675 rs1179130091	353	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA410699677 rs1179130091	353	P>T		No	ClinGen TOPMed gnomAD
rs753910671 CA322131892	354	R>C		No	ClinGen ExAC TOPMed gnomAD
CA410699671 rs1439091104	354	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA410699670 rs1439091104	354	R>P		No	ClinGen TOPMed gnomAD
CA10105707 rs753910671	354	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1323908787 CA410699661	355	W>C		No	ClinGen gnomAD
CA10105704 rs750789579	355	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1226410023 CA410699658	356	R>Q		No	ClinGen TOPMed gnomAD
CA410699659 rs1264783142	356	R>W		No	ClinGen gnomAD
rs1253687284 CA410699651	357	D>G		No	ClinGen TOPMed
CA410699655 rs1328385695	357	D>N		No	ClinGen gnomAD
rs904916324 CA410699647	358	P>A		No	ClinGen TOPMed gnomAD
CA10105703 rs767898702	358	P>L		No	ClinGen ExAC gnomAD
CA410699646 rs904916324	358	P>S		No	ClinGen TOPMed gnomAD
CA322131868 rs904916324	358	P>T		No	ClinGen TOPMed gnomAD
CA10105701 rs774930174	360	L>P		No	ClinGen ExAC gnomAD
CA322131853 rs1006959033	361	P>S		No	ClinGen TOPMed gnomAD
CA10105700 rs769097978	365	A>S		No	ClinGen ExAC
rs1179021441 CA410699580	366	M>V		No	ClinGen TOPMed gnomAD
CA410699559 rs1411841272	367	L>P		No	ClinGen TOPMed gnomAD
rs1411841272 CA410699561	367	L>R		No	ClinGen TOPMed gnomAD
CA322131838 rs113110041	368	R>G		No	ClinGen ExAC TOPMed gnomAD
CA410699553 rs1470855692	368	R>Q		No	ClinGen gnomAD
COSM1183690 rs113110041 CA10105697	368	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs896321207 CA322131829	371	V>A		No	ClinGen TOPMed
CA10105694 rs770753341	371	V>M		No	ClinGen ExAC TOPMed gnomAD
CA322131827 rs919437138	372	D>G		No	ClinGen Ensembl
CA10105692 rs758357457	374	V>L		No	ClinGen ExAC TOPMed gnomAD
CA10105691 rs758357457	374	V>M		No	ClinGen ExAC TOPMed gnomAD
CA410699459 rs1464313338	376	A>T		No	ClinGen gnomAD
rs753999372 CA10105690	377	N>S		No	ClinGen ExAC gnomAD
rs1352848700 CA410699430	378	A>E		No	ClinGen gnomAD
CA410699427 rs1352848700	378	A>V		No	ClinGen gnomAD
CA10105685 rs369029314	380	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105686 rs369029314	380	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1319476585 CA410699374	383	Q>*		No	ClinGen gnomAD
CA10105681 rs775031614	386	C>S		No	ClinGen ExAC gnomAD
rs958956159 CA410699282	390	E>*		No	ClinGen TOPMed gnomAD
rs1428249425 CA410699276	390	E>G		No	ClinGen TOPMed
rs958956159 CA322131801	390	E>K		No	ClinGen TOPMed gnomAD
rs776350342 CA10105678	391	G>S		No	ClinGen ExAC TOPMed gnomAD
CA10105677 rs770431680	392	V>I		No	ClinGen ExAC gnomAD
rs145871086 CA10105675	394	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105676 rs746843275	394	R>W		No	ClinGen ExAC TOPMed gnomAD
rs375905723 CA10105673	395	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs780336455 CA10105672	395	R>H		No	ClinGen ExAC TOPMed gnomAD
rs780336455 CA322131787	395	R>L		No	ClinGen ExAC TOPMed gnomAD
CA410699211 rs1226464114	396	V>I		No	ClinGen TOPMed gnomAD
CA10105670 rs745882093	397	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs756226152 CA10105671	397	R>W		No	ClinGen ExAC TOPMed gnomAD
CA410699189 rs1348616425	398	Q>*		No	ClinGen gnomAD
rs956948760 CA322131780	398	Q>R		No	ClinGen TOPMed
CA410699158 rs764421355	400	R>P		No	ClinGen ExAC TOPMed gnomAD
CA10105666 rs764421355	400	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs751962420 CA10105667	400	R>W		No	ClinGen ExAC gnomAD
rs758963420 CA10105665	401	G>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	402	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759098663 CA10105662	403	P>L		No	ClinGen ExAC TOPMed gnomAD
CA10105660 rs766082579	407	A>P		No	ClinGen ExAC gnomAD
rs760368675 CA10105659	410	D>E		No	ClinGen ExAC gnomAD
rs1490514318 CA410699042	411	H>Y		No	ClinGen gnomAD
rs1307131490 CA410699018	412	P>L		No	ClinGen TOPMed gnomAD
CA322131746 rs1013271117	412	P>S		No	ClinGen TOPMed gnomAD
CA10105655 rs774446606	413	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10105656 rs774446606	413	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs771976158 CA10105657	413	R>W	Variant assessed as Somatic; 5.534e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA322131728 rs1004438373	415	E>D		No	ClinGen Ensembl
CA10105653 rs762365068	417	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs371292422 CA10105654	417	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1601600081 CA410698969 COSM1307962	418	R>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated Ensembl
CA410698968 rs1346788430	418	R>H		No	ClinGen gnomAD
rs781101462 CA410698965	419	R>G		No	ClinGen ExAC TOPMed gnomAD
CA410698964 rs1354725712	419	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10105652 rs781101462	419	R>W		No	ClinGen ExAC TOPMed gnomAD
CA410698957 rs747221310	420	A>D		No	ClinGen ExAC gnomAD
rs747221310 CA10105650	420	A>V		No	ClinGen ExAC gnomAD
CA410698953 rs1176994727	421	C>Y		No	ClinGen gnomAD
rs1481368559 CA410698943	422	G>V		No	ClinGen TOPMed gnomAD
rs778178678 CA10105649	425	R>C		No	ClinGen ExAC gnomAD
rs1480376529 COSM1032166 CA410698928	425	R>H	Variant assessed as Somatic; 5.257e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs896353615 CA322131715	426	N>D		No	ClinGen TOPMed
CA410698919 rs1206929916	427	L>I		No	ClinGen TOPMed gnomAD
CA10105647 rs758765047	429	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1569160549 CA410698899	430	G>S		No	ClinGen Ensembl
CA10105646 rs753001261	431	R>C		No	ClinGen ExAC gnomAD
CA322131711 rs1014683833	431	R>H		No	ClinGen TOPMed gnomAD
CA10105643 rs753424151	432	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1479219756 CA410698882	433	T>A		No	ClinGen TOPMed
CA410698878 rs1171121848	433	T>I		No	ClinGen TOPMed
CA410698877 rs1373461673	434	D>N		No	ClinGen gnomAD
CA10105642 rs765781420	435	N>D		No	ClinGen ExAC gnomAD
CA10105641 rs760458676	437	A>S		No	ClinGen ExAC gnomAD
CA410698847 rs1337141075	438	A>S		No	ClinGen TOPMed gnomAD
CA410698849 rs1337141075	438	A>T		No	ClinGen TOPMed gnomAD
rs1470856019 CA410698843	439	I>V		No	ClinGen gnomAD
CA10105638 rs761726212	440	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767223253 CA10105639	440	R>W	Variant assessed as Somatic; 5.114e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773981113 CA10105637	442	C>F		No	ClinGen ExAC gnomAD
CA10105635 rs749159336	443	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1201702352 CA410698799	446	P>S		No	ClinGen gnomAD
CA10105632 rs747023159	447	A>T		No	ClinGen ExAC gnomAD
rs772231965 CA410698783	449	V>E		No	ClinGen ExAC gnomAD
rs772231965 CA10105630	449	V>G		No	ClinGen ExAC gnomAD
rs368308258 CA10105631	449	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105629 rs748542625	450	R>C		No	ClinGen ExAC gnomAD
rs563696635 CA10105628	450	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1265737830 CA410698752	455	A>S		No	ClinGen TOPMed
CA410698746 rs755701196	456	R>L		No	ClinGen ExAC TOPMed gnomAD
rs755701196 CA10105624	456	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs779678470 CA10105625	456	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1386188304 CA410698733	458	N>S		No	ClinGen TOPMed gnomAD
rs550339364 CA322131647	459	E>D		No	ClinGen TOPMed gnomAD
rs767313095 COSM1414921 CA10105622	459	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs761530180 CA10105621	461	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1569160129 CA410698715	461	R>H		No	ClinGen Ensembl
rs1039832278 CA322131638	463	L>R		No	ClinGen TOPMed gnomAD
rs1184450473 CA410698695	464	V>A		No	ClinGen gnomAD
rs1206337704 CA410698670	466	G>V		No	ClinGen TOPMed
TCGA novel	468	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10105593 rs116102961	474	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10105592 rs116102961	474	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774439071 CA10105591	475	E>K		No	ClinGen ExAC TOPMed gnomAD
rs774439071 CA410698618	475	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs768875884 CA10105590	476	P>A		No	ClinGen ExAC TOPMed gnomAD
CA322131351 rs377639042	477	L>Q		No	ClinGen ESP
rs775967640 CA10105588	480	V>A		No	ClinGen ExAC gnomAD
CA10105589 rs76496156 RCV000884191	480	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	484	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200300285 CA10105586	484	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410698552 rs1270283444	485	G>S		No	ClinGen gnomAD
rs1435628196 CA410698539	487	Q>*		No	ClinGen gnomAD
rs756726250 CA10105584	488	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10105585 rs780919187	488	T>S		No	ClinGen ExAC gnomAD
rs752471166 CA10105580	492	E>G		No	ClinGen ExAC TOPMed gnomAD
CA322131335 rs886116986	492	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA410698501 rs1334062150	493	V>A		No	ClinGen gnomAD
CA410698503 rs764990538	493	V>L		No	ClinGen ExAC gnomAD
rs764990538 CA10105579	493	V>M		No	ClinGen ExAC gnomAD
CA10105577 rs753769955	495	V>M		No	ClinGen ExAC TOPMed gnomAD
CA322131315 rs151212384	498	S>*		No	ClinGen ESP TOPMed
CA322131317 rs151212384	498	S>L		No	ClinGen ESP TOPMed
rs774452045 CA10105573	499	G>R		No	ClinGen ExAC gnomAD
CA10105571 rs571102007	500	W>R		No	ClinGen 1000Genomes ExAC gnomAD
CA410698449 rs1362737186	501	E>D		No	ClinGen gnomAD
rs1181972203 CA410698447	502	R>C		No	ClinGen gnomAD
CA322131304 rs371339579	502	R>H		No	ClinGen gnomAD
rs1202785122 CA410698425	505	N>S		No	ClinGen gnomAD
rs746171819 CA10105568	506	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10105567 rs777293808	507	D>V		No	ClinGen ExAC TOPMed gnomAD
rs771417479 CA10105566	510	P>L		No	ClinGen ExAC gnomAD
rs777302602 CA10105564	511	R>Q		No	ClinGen ExAC gnomAD
COSM1193745 rs558960170 CA10105565	511	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1331717847 CA410698377	513	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1362113069 CA410698372	513	A>V		No	ClinGen TOPMed
rs527991780 CA10105560	514	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410698355 rs1407301434	516	T>A		No	ClinGen gnomAD
rs1386965260 CA410698347	517	T>P		No	ClinGen TOPMed
CA10105559 rs142237966	518	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410698336 rs1400342126	519	F>V		No	ClinGen gnomAD
rs756048244 CA10105557	520	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1370845804 CA410698327	520	K>R		No	ClinGen TOPMed
CA322131277 rs956126889	521	N>S		No	ClinGen TOPMed
rs372206407 CA10105556	522	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs542020914 CA10105554	523	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765501503 CA10105552	525	C>F		No	ClinGen ExAC gnomAD
rs149132233 CA10105526	528	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747071314 CA322130948	531	S>F		No	ClinGen Ensembl
rs748926778 CA410698125	532	D>H		No	ClinGen ExAC TOPMed gnomAD
rs748926778 CA10105523	532	D>N		No	ClinGen ExAC TOPMed gnomAD
rs775694985 CA10105522	533	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1428598090 CA410698072	535	E>G		No	ClinGen gnomAD
CA10105521 rs187617686	535	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1198778168 CA410698059	536	A>V		No	ClinGen gnomAD
CA10105519 rs781214723	537	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10105517 rs200737383	538	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10105518 rs560236817	538	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA10105516 rs779111860	539	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
VAR_053812 CA10105515 RCV000515125 rs16982871	539	R>Q		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754082386 CA10105514	540	L>F		No	ClinGen ExAC gnomAD
CA410698024 rs1422475373	540	L>R		No	ClinGen TOPMed
rs139572531 CA10105513	541	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410698021 rs1283272907	541	R>W		No	ClinGen gnomAD
rs1011398415 CA322130931	544	E>*		No	ClinGen TOPMed
rs761114177 CA10105512	547	V>M		No	ClinGen ExAC gnomAD
CA10105511 rs746128417	548	D>E		No	ClinGen ExAC gnomAD
rs376589668 CA10105508	549	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105509 rs199601953	549	A>T		No	ClinGen ExAC gnomAD
CA322130927 rs376589668	549	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10105505 rs775224572	552	H>D		No	ClinGen ExAC gnomAD
CA410697827 rs1177078043	552	H>R		No	ClinGen TOPMed gnomAD
CA410697832 rs775224572	552	H>Y		No	ClinGen ExAC gnomAD
rs143766205 CA10105501	556	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs779197841 CA10105499	558	V>M		No	ClinGen ExAC gnomAD
rs780343598 CA10105496	560	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10105497 rs139920129	560	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373958610 CA10105494	562	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA10105492 rs142034702	563	T>A		No	ClinGen ESP ExAC gnomAD
CA410697667 rs1311022256	564	D>Y		No	ClinGen gnomAD
CA410697659 rs1450109211	565	N>D		No	ClinGen TOPMed gnomAD
CA10105490 rs752067208	565	N>K		No	ClinGen ExAC gnomAD
CA10105491 rs757829188	565	N>S		No	ClinGen ExAC gnomAD
CA10105460 rs369902570	567	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105462 rs760568826	567	S>P		No	ClinGen ExAC gnomAD
rs369902570 CA10105461	567	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1601591104 RCV000997864	568	V>missing		No	ClinVar dbSNP
CA410697480 rs1294720860	571	C>R		No	ClinGen gnomAD
rs769768355 CA10105457	572	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1569156072 CA410697439	573	C>Y		No	ClinGen Ensembl
rs781418631 CA10105455	574	I>V		No	ClinGen ExAC gnomAD
CA10105454 rs188715361	575	M>T		No	ClinGen 1000Genomes ExAC gnomAD
CA410697399 rs1459734964	576	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs747415960 COSM461156 CA10105453	576	R>W	cervix Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA410697390 rs1371727525 CA410697391	577	N>K		No	ClinGen gnomAD
CA322130668 rs183982683	580	Y>C		No	ClinGen 1000Genomes gnomAD
CA10105450 rs753137512	582	V>M		No	ClinGen ExAC gnomAD
rs754456730 CA10105448	584	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1310907023 CA410697336	585	E>D		No	ClinGen gnomAD
TCGA novel	585	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1214823097 CA410697325	587	P>L		No	ClinGen TOPMed
CA322130658 rs377400693	587	P>S		No	ClinGen gnomAD
CA10105446 rs766161119	588	G>R		No	ClinGen ExAC gnomAD
rs760370657 CA10105445	589	A>T		No	ClinGen ExAC gnomAD
CA410697311 rs1345004134	590	D>G		No	ClinGen gnomAD
CA10105443 rs767213889	590	D>N		No	ClinGen ExAC TOPMed gnomAD
CA410697313 rs767213889	590	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs879658384 CA322130641	591	R>K		No	ClinGen Ensembl
CA10105442 rs761604628	591	R>S		No	ClinGen ExAC gnomAD
rs1462153547 CA410697298	592	Y>C		No	ClinGen TOPMed
TCGA novel	594	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369702667 CA410697280	594	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	596	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10105440 rs768589776	596	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs372024829 CA10105436	599	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs372024829 CA10105438	599	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372024829 CA10105437	599	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1416902454 CA410697239	602	S>G		No	ClinGen gnomAD
CA10105435 rs760730779	602	S>N		No	ClinGen ExAC TOPMed gnomAD
rs748482942 CA10105434	603	A>D		No	ClinGen ExAC gnomAD
rs748482942 CA410697230	603	A>G		No	ClinGen ExAC gnomAD
rs748482942 CA410697229	603	A>V		No	ClinGen ExAC gnomAD
rs1458934529 CA410697227	604	V>I		No	ClinGen TOPMed gnomAD
rs779309671 CA10105433	605	G>D		No	ClinGen ExAC gnomAD
rs1601590471 CA410697214	606	S>Y		No	ClinGen Ensembl
CA322130580 rs559227752	607	Q>H		No	ClinGen 1000Genomes gnomAD
rs748845916 CA10105432	607	Q>P		No	ClinGen ExAC gnomAD
rs748845916 CA10105431	607	Q>R		No	ClinGen ExAC gnomAD
RCV000901337 rs199498113 CA10105430	608	R>C		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10105429 rs755897987	608	R>H		No	ClinGen ExAC TOPMed gnomAD
CA410697203 rs755897987	608	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10105427 rs374932781	609	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750107043 CA10105428	609	R>W		No	ClinGen ExAC TOPMed gnomAD
rs199865655 CA10105425	611	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10105426 rs757025809	611	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1569155540 CA410697185	612	D>G		No	ClinGen Ensembl
CA10105422 rs776752976	615	S>G		No	ClinGen ExAC gnomAD
CA410697165 rs1362797238	615	S>T		No	ClinGen TOPMed gnomAD
CA10105421 rs766439137	617	F>I		No	ClinGen ExAC
CA10105419 rs773316962	620	K>E		No	ClinGen ExAC gnomAD
CA410697134 rs773316962	620	K>Q		No	ClinGen ExAC gnomAD
CA10105418 rs772285929	622	A>P		No	ClinGen ExAC gnomAD
CA322127965 CA10105395 rs769148437	624	E>D		No	ClinGen ExAC
CA410696913 rs1165989677	625	E>K		No	ClinGen gnomAD
CA410696873 rs1424327859	627	F>C		No	ClinGen gnomAD
CA410696880 rs1475024857	627	F>L		No	ClinGen gnomAD
rs1194456095 CA410696859	628	H>R		No	ClinGen gnomAD
rs1489317702 CA410696851	629	Q>K		No	ClinGen gnomAD
CA410696844 rs1266953243	629	Q>R		No	ClinGen gnomAD
rs868720643 CA322127963	630	G>*		No	ClinGen Ensembl
rs770475677 CA10105374	631	K>E		No	ClinGen ExAC gnomAD
CA10105373 rs143418138	631	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA410696769 rs1327916124	631	K>R		No	ClinGen TOPMed
rs776075753 CA10105372	632	K>N		No	ClinGen ExAC gnomAD
rs116710238 CA10105368	633	D>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs116710238 CA410696746	633	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105369 rs770483203	633	D>H		No	ClinGen ExAC TOPMed
rs770483203 CA410696748	633	D>N		No	ClinGen ExAC TOPMed
rs770483203 CA10105371	633	D>Y		No	ClinGen ExAC TOPMed
CA322127654 rs961836686	634	G>A		No	ClinGen TOPMed gnomAD
rs961836686 CA410696735	634	G>D		No	ClinGen TOPMed gnomAD
CA410696739 rs1601584778	634	G>S		No	ClinGen Ensembl
CA10105367 rs777421962	635	E>G		No	ClinGen ExAC TOPMed gnomAD
CA10105364 CA10105365 rs116249498	637	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA10105366 rs771669785	637	D>N		No	ClinGen ExAC gnomAD
CA10105362 rs753809266 COSM1183691	638	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs754928047 CA10105363	638	R>W		No	ClinGen ExAC TOPMed gnomAD
CA410696659 rs1311183352	641	D>G		No	ClinGen TOPMed gnomAD
CA410696653 rs1450257152	642	T>A		No	ClinGen gnomAD
rs773431238 CA10105360	642	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773431238 CA322127637	642	T>R		No	ClinGen ExAC gnomAD
rs1360993836 CA410696620	645	L>P		No	ClinGen TOPMed gnomAD
CA410696604 rs1156985416	647	K>E		No	ClinGen gnomAD
CA410696599 rs1419293560	647	K>R		No	ClinGen gnomAD
rs543310231 CA410696592	648	R>*	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs543310231 CA10105358	648	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs763247714 CA10105357	648	R>P		No	ClinGen ExAC TOPMed gnomAD
rs763247714 CA410696590	648	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA322127626 rs868589276	652	A>T		No	ClinGen TOPMed gnomAD
CA10105354 rs759755564	653	K>E		No	ClinGen ExAC
CA410696545 rs759755564	653	K>Q		No	ClinGen ExAC
rs1169935151 CA410696329	654	G>D		No	ClinGen TOPMed
CA10105353 rs777204567	654	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1305676520 CA410696317	656	E>G		No	ClinGen gnomAD
CA10105336 rs755388828	660	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1280284620 CA410696290	660	Q>L		No	ClinGen gnomAD
rs1168057066 CA410696284	661	P>R		No	ClinGen TOPMed gnomAD
CA322127079 rs972528321	663	V>L		No	ClinGen TOPMed gnomAD
CA410696273 rs972528321	663	V>M		No	ClinGen TOPMed gnomAD
CA10105332 rs772764526	664	V>A		No	ClinGen ExAC gnomAD
rs761063363 CA10105333	664	V>I		No	ClinGen ExAC TOPMed gnomAD
rs761063363 CA410696268	664	V>L		No	ClinGen ExAC TOPMed gnomAD
rs146960902 CA10105330	665	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146960902 CA10105331	665	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1170634458 CA410696262	665	R>P		No	ClinGen gnomAD
TCGA novel	666	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601579113 CA410696251	667	Y>S		No	ClinGen Ensembl
CA10105329 rs202240748	668	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA10105328 rs768154752	669	S>F		No	ClinGen ExAC TOPMed gnomAD
CA322127056 rs907678586	670	L>F		No	ClinGen TOPMed
CA410696203 rs1432233669	672	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs553999690 CA10105326	674	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105325 rs200370781	675	R>G		No	ClinGen ExAC gnomAD
rs745799425 CA10105324	675	R>Q		No	ClinGen ExAC gnomAD
CA322127044 rs200370781	675	R>W		No	ClinGen ExAC gnomAD
rs992989364 CA322127038	676	N>K		No	ClinGen Ensembl
rs148872323 CA10105322 RCV000949626	677	F>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781213545 CA10105323	677	F>L		No	ClinGen ExAC gnomAD
rs748185873 CA10105321	678	N>H		No	ClinGen ExAC gnomAD
CA410696129 rs1190884646	679	T>I		No	ClinGen TOPMed
CA410696137 rs1601578859	679	T>P		No	ClinGen Ensembl
rs1302252088 CA410696125	680	L>R		No	ClinGen gnomAD
rs754276278 CA10105318	682	A>G		No	ClinGen ExAC gnomAD
CA10105319 rs755121911	682	A>T		No	ClinGen ExAC gnomAD
rs138605057 CA10105316	684	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA322127020 rs919933905	686	A>T		No	ClinGen TOPMed gnomAD
CA10105314 rs767954651	686	A>V		No	ClinGen ExAC TOPMed gnomAD
rs761344502 CA10105313	687	L>V		No	ClinGen ExAC gnomAD
rs1171990751 CA410696052	688	Q>*		No	ClinGen TOPMed
rs535959125 CA10105312	688	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410696047 rs1177826011	688	Q>L		No	ClinGen TOPMed gnomAD
rs569906702 CA10105311	690	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105309 rs775425001	692	A>T		No	ClinGen ExAC gnomAD
rs1441186133 CA410696001	692	A>V		No	ClinGen TOPMed
rs550149998 CA10105307	694	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	695	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256760541 CA410695976	695	W>R		No	ClinGen gnomAD
CA10105305 rs770947787	696	M>V		No	ClinGen ExAC gnomAD
CA322126851 rs2073749	699	T>M		No	ClinGen TOPMed gnomAD
rs1216210756 CA410695876	700	Y>N		No	ClinGen gnomAD
CA410695864 rs377700104	701	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA410695859 rs1278333943	701	I>T		No	ClinGen gnomAD
CA10105276 rs377700104	701	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105275 rs752216008	702	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1401432644 CA410695855	702	R>S		No	ClinGen gnomAD
CA410695844 rs1405758043	703	A>T		No	ClinGen gnomAD
CA410695833 rs1392706896	704	T>A		No	ClinGen gnomAD
CA10105273 rs765018528	706	R>C		No	ClinGen ExAC TOPMed gnomAD
CA410695814 rs765018528	706	R>G		No	ClinGen ExAC TOPMed gnomAD
rs371370931 CA10105270	706	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105272 rs371370931	706	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371370931 CA10105271	706	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105269 rs543942340	707	K>E		No	ClinGen ExAC gnomAD
rs773036187 CA10105268	707	K>R		No	ClinGen ExAC gnomAD
rs565420927 CA322126819	709	R>C		No	ClinGen Ensembl
CA410695785 rs1245259132	709	R>H		No	ClinGen gnomAD
CA410695782 rs1245259132	709	R>L		No	ClinGen gnomAD
CA410695772 rs1269793713	710	G>E		No	ClinGen TOPMed
CA410695780 rs762983344 CA10105266	710	G>R		No	ClinGen ExAC TOPMed gnomAD
rs775526739 CA10105265	711	L>M		No	ClinGen ExAC TOPMed gnomAD
rs76218625 CA322126808	712	P>R		No	ClinGen Ensembl
rs1317880150 CA410695754	713	V>M		No	ClinGen gnomAD
CA410695739 rs1215878705	715	V>L		No	ClinGen gnomAD
CA10105264 rs770061128	716	E>Q		No	ClinGen ExAC gnomAD
CA410695722 rs1436878991	718	L>M		No	ClinGen gnomAD
rs937723157 CA322126802	718	L>P		No	ClinGen Ensembl
rs937723157 CA410695720	718	L>Q		No	ClinGen Ensembl
rs1332629696 CA410695714	719	Q>L		No	ClinGen TOPMed gnomAD
rs1332629696 CA410695715	719	Q>R		No	ClinGen TOPMed gnomAD
rs776769318 CA410695707	720	S>F		No	ClinGen ExAC gnomAD
CA10105262 rs374245291	720	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105261 rs776769318	720	S>Y		No	ClinGen ExAC gnomAD
rs927472433 CA322126797	722	T>S		No	ClinGen Ensembl
CA410695673 rs1172237567 CA410695675	723	D>E		No	ClinGen gnomAD
rs369513019 CA10105259	723	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs771301838 CA410695682	723	D>H		No	ClinGen ExAC gnomAD
CA10105260 rs771301838	723	D>N		No	ClinGen ExAC gnomAD
CA410695667 rs1478507485	724	K>E		No	ClinGen gnomAD
rs778178922 CA10105258	724	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1457703690 CA410695648	725	V>A		No	ClinGen gnomAD
CA410695655 rs1177237965	725	V>L		No	ClinGen gnomAD
CA410695656 rs1177237965	725	V>M		No	ClinGen gnomAD
rs556096878 CA10105257	727	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA410695605 rs1601575966	728	A>V		No	ClinGen Ensembl
CA10105255 rs778549957 COSM419641	729	V>I	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA10105254 rs202208069	730	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10105253 rs753543172	731	I>F		No	ClinGen ExAC gnomAD
COSM1183692 CA410695449 rs1239230402	732	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA410695436 rs1299818119	734	R>C		No	ClinGen TOPMed gnomAD
CA410695435 rs1444407192	734	R>H		No	ClinGen gnomAD
COSM1032165 CA10105249 rs750193308	735	N>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1333638646 CA410695423	736	L>F		No	ClinGen TOPMed gnomAD
rs761798614 CA10105247	737	S>W		No	ClinGen ExAC gnomAD
rs930487397 CA322126742	738	L>P		No	ClinGen TOPMed gnomAD
CA10105246 rs775614938	739	D>N		No	ClinGen ExAC gnomAD
rs765307423 CA10105245	740	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1381433990 COSM1032164 CA410695402	740	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA10105244 rs759557885	741	R>S		No	ClinGen ExAC TOPMed gnomAD
CA322126730 rs898986654	743	K>E		No	ClinGen TOPMed
CA410695356 rs1283456125	747	G>R		No	ClinGen gnomAD
rs1308238885 CA410695327	749	Y>C		No	ClinGen gnomAD
CA410695328 rs1308238885	749	Y>S		No	ClinGen gnomAD
rs1385413426 CA410695323	750	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10105212 rs751312174	751	M>V		No	ClinGen ExAC gnomAD
CA410695304 rs1327042801	752	A>V		No	ClinGen gnomAD
rs1443744999 CA410695297	753	E>D		No	ClinGen TOPMed gnomAD
rs1169272424 CA410695282	756	R>Q		No	ClinGen gnomAD
rs372539946 CA10105211	756	R>W		No	ClinGen ESP ExAC gnomAD
rs758305598 CA10105210	757	N>H		No	ClinGen ExAC TOPMed gnomAD
COSM3800037 CA410695264 rs1173552444	759	R>C	Variant assessed as Somatic; 5.93e-05 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1295063179 CA410695263	759	R>H		No	ClinGen TOPMed gnomAD
rs369590446 CA10105209	760	N>S		No	ClinGen ESP ExAC gnomAD
CA10105206 rs376268496	762	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA410695240 rs1456375119	763	A>T		No	ClinGen gnomAD
CA10105205 rs750674229	763	A>V		No	ClinGen ExAC gnomAD
CA10105204 rs767587957	764	P>L		No	ClinGen ExAC gnomAD
CA410695232 rs767587957	764	P>Q		No	ClinGen ExAC gnomAD
rs1043878575 CA322126557	764	P>S		No	ClinGen TOPMed gnomAD
rs371730200 CA10105201	765	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs959806304 CA322126537	765	P>S		No	ClinGen TOPMed
rs1304609624 CA410695226	766	R>*		No	ClinGen gnomAD
rs763549063 CA10105199	766	R>L		No	ClinGen ExAC TOPMed gnomAD
rs763549063 CA410695224	766	R>P		No	ClinGen ExAC TOPMed gnomAD
rs763549063 CA410695225	766	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1331300125 CA410695219	767	P>L		No	ClinGen gnomAD
CA410695221 rs1331300125	767	P>Q		No	ClinGen gnomAD
CA10105198 rs140904483	767	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140904483 CA410695222	767	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1300606678 CA410695215	768	G>E		No	ClinGen gnomAD
rs1397988268 CA410695218	768	G>R		No	ClinGen gnomAD
rs745313568 CA10105196	769	A>S		No	ClinGen ExAC TOPMed gnomAD
rs745313568 CA410695211	769	A>T		No	ClinGen ExAC TOPMed gnomAD
rs556648110 CA10105195	769	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs545917955 CA10105193	770	C>F		No	ClinGen 1000Genomes ExAC gnomAD
rs545917955 CA410695205	770	C>S		No	ClinGen 1000Genomes ExAC gnomAD
rs545917955 CA10105192	770	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs777535564 CA10105191	771	L>R		No	ClinGen ExAC
CA322126512 rs746878504	774	D>A		No	ClinGen Ensembl
CA322126509 rs746878504	774	D>G		No	ClinGen Ensembl
rs778661191 CA10105188	775	T>A		No	ClinGen ExAC gnomAD
CA410695174 rs756242656	775	T>I		No	ClinGen ExAC gnomAD
rs778661191 CA10105189	775	T>P		No	ClinGen ExAC gnomAD
CA10105187 rs756242656	775	T>S		No	ClinGen ExAC gnomAD
rs1281313975 CA410695170	776	V>A		No	ClinGen gnomAD
rs1281313975 CA410695169	776	V>G		No	ClinGen gnomAD
rs750431334 CA10105186	776	V>M		No	ClinGen ExAC TOPMed gnomAD
rs767822334 CA10105185	777	V>G		No	ClinGen ExAC gnomAD
rs1418993456 CA410695163	778	A>T		No	ClinGen gnomAD
CA410695157 rs1309057885	779	V>M		No	ClinGen gnomAD
rs764556878 CA10105182	781	N>D		No	ClinGen ExAC gnomAD
rs1394959248 CA410695140	781	N>K		No	ClinGen gnomAD
CA410695138 rs1601572704	782	T>P		No	ClinGen Ensembl
CA410695129 rs1417577489	783	I>N		No	ClinGen gnomAD
rs1314362043 CA410695131	783	I>V		No	ClinGen gnomAD
CA10105179 rs144187900	785	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA410695110 rs1473479639	786	I>L		No	ClinGen TOPMed
CA10105178 COSM1740771 rs759123244	786	I>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs770623530 CA10105176	787	V>M		No	ClinGen ExAC TOPMed gnomAD
CA10105174 rs368598484	789	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105173 rs747851576	791	L>V		No	ClinGen ExAC TOPMed gnomAD
CA10105171 rs778943702	792	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1351667430 CA410695066	793	N>D		No	ClinGen TOPMed
CA410695061 rs184898905	793	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105170 rs754841244	793	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1353395111 CA410695057	794	A>G		No	ClinGen TOPMed gnomAD
CA410695055 rs1353395111	794	A>V		No	ClinGen TOPMed gnomAD
CA410695050 rs1243379048	795	R>H		No	ClinGen gnomAD
CA10105166 rs751843457	796	S>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	797	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs538460279 CA10105165	797	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs752969936 CA10105163	798	L>R		No	ClinGen ExAC gnomAD
rs1162615553 CA410695029	799	Q>R		No	ClinGen gnomAD
CA322126470 rs765817985	800	A>P		No	ClinGen ExAC TOPMed gnomAD
CA10105162 rs765817985	800	A>S		No	ClinGen ExAC TOPMed gnomAD
CA410695020 rs1418630599	801	R>C		No	ClinGen gnomAD
rs759942114 CA410695019	801	R>H		No	ClinGen ExAC TOPMed gnomAD
rs759942114 CA10105161	801	R>L		No	ClinGen ExAC TOPMed gnomAD
CA410695013 rs1194257074	802	G>A		No	ClinGen gnomAD
rs1241756419 CA410695015	802	G>R		No	ClinGen gnomAD
rs1265823259 CA410695007	803	V>A		No	ClinGen gnomAD
CA10105160 rs115736959 RCV000972563	805	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA410694983 rs1216270448	807	V>A		No	ClinGen gnomAD
rs1424170030 CA410694987	807	V>M		No	ClinGen TOPMed
rs1002091670 CA322126463	808	A>V		No	ClinGen Ensembl
CA10105158 rs760124089	809	L>V		No	ClinGen ExAC TOPMed gnomAD
rs904877676 CA322126460	810	V>A		No	ClinGen TOPMed gnomAD
rs904877676 CA410694967	810	V>G		No	ClinGen TOPMed gnomAD
CA410694971 rs1432580216	810	V>M		No	ClinGen TOPMed gnomAD
rs1322700917 CA410694964	811	A>S		No	ClinGen TOPMed gnomAD
CA410694965 rs1322700917	811	A>T		No	ClinGen TOPMed gnomAD
rs763022632 CA10105156	811	A>V		No	ClinGen ExAC gnomAD
CA10105154 rs748016716	812	S>Y		No	ClinGen ExAC gnomAD
CA10105114 rs761328671	814	Q>*		No	ClinGen ExAC gnomAD
rs1311294671 CA410694924	814	Q>R		No	ClinGen Ensembl
CA10105112 rs762879311 COSM1535141	815	S>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs762879311 CA10105111	815	S>W		No	ClinGen ExAC TOPMed gnomAD
CA10105110 rs775399689	817	R>C		No	ClinGen ExAC gnomAD
COSM1165245 rs116731572 CA10105109	817	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA10105108 rs116731572	817	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs921290428 CA322126334	818	E>K		No	ClinGen TOPMed gnomAD
rs201089326 CA10105107	819	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105106 rs201089326	819	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1486472356 CA410694866	820	K>T		No	ClinGen gnomAD
rs142366894 CA10105105	821	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114991369 CA10105104	821	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs908625466 CA322126318	822	A>T		No	ClinGen Ensembl
rs115199082 CA10105102	822	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410694832 rs1569147380	823	S>A		No	ClinGen Ensembl
rs756681144 CA10105099	823	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10105098 rs368322530	824	H>Y		No	ClinGen ESP ExAC gnomAD
rs201679264 CA410694797	826	L>M		No	ClinGen ExAC TOPMed gnomAD
CA10105097 rs201679264	826	L>V		No	ClinGen ExAC TOPMed gnomAD
CA10105095 rs751048776	828	T>I		No	ClinGen ExAC TOPMed gnomAD
RCV000894348 rs115344498 CA10105092	829	V>A		No	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD
rs1346270147 CA410694757	829	V>L		No	ClinGen gnomAD
CA10105090 rs758107924	831	S>R		No	ClinGen ExAC TOPMed gnomAD
rs762950921 CA10105087	832	Y>*		No	ClinGen ExAC gnomAD
CA10105088 rs150038979	832	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA410694710 rs1246800081	832	Y>H		No	ClinGen TOPMed
CA10105089 rs150038979	832	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10105085 rs776459604	834	E>*		No	ClinGen ExAC gnomAD
rs1371574541 CA410694689	834	E>D		No	ClinGen TOPMed gnomAD
rs1267351455 CA410694690	834	E>G		No	ClinGen TOPMed
rs766302023 CA10105083	835	L>V		No	ClinGen ExAC TOPMed gnomAD
CA10105082 rs114571078	836	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1219241634 CA410694675	836	R>H		No	ClinGen gnomAD
CA10105081 rs114571078	836	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10105080 rs147541177	837	G>A		No	ClinGen ESP ExAC TOPMed
rs1334149729 CA410694662	838	T>A		No	ClinGen TOPMed gnomAD
rs143382568 CA10105079	838	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770165446 CA10105077	839	L>S		No	ClinGen ExAC gnomAD
rs770165446 CA410694647	839	L>W		No	ClinGen ExAC gnomAD
CA10105076 rs746190051	840	Q>*		No	ClinGen ExAC gnomAD
CA10105074 rs137940889	842	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1363069874 CA410694598	843	G>D		No	ClinGen gnomAD
CA410694603 rs1381965730	843	G>R		No	ClinGen TOPMed gnomAD
CA10105072 rs777331045	844	W>C		No	ClinGen ExAC TOPMed gnomAD
rs370772862 CA10105070	845	T>I		No	ClinGen ESP ExAC gnomAD
CA10105071 rs757911543	845	T>S		No	ClinGen ExAC gnomAD
CA10105068 rs147372581	847	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs147372581 CA10105069	847	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219646019 CA410694554	848	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10105067 rs141228868 COSM1032162	848	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
TCGA novel	848	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10105066 rs141228868	848	R>P		No	ClinGen ESP ExAC gnomAD
rs760649953 CA410694533	850	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA10105065 rs760649953	850	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA410694470 rs1444024731	851	S>L		No	ClinGen gnomAD
rs1021528226 CA322126195	852	A>G		No	ClinGen TOPMed gnomAD
rs781155295 CA410694443	854	A>D		No	ClinGen ExAC gnomAD
rs781155295 CA10105026	854	A>V		No	ClinGen ExAC gnomAD
rs564690939 CA10105025	855	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA410694415 rs1206491895	857	K>R		No	ClinGen gnomAD
rs759473885 CA10105022	858	G>E		No	ClinGen ExAC gnomAD
rs551209693 CA10105023	858	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA410694394 rs1380319592	859	P>L		No	ClinGen gnomAD
CA10105021 rs143458976	859	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410694382 rs761144670	860	K>N		No	ClinGen ExAC TOPMed gnomAD
CA410694359 rs1272002252	862	A>V		No	ClinGen gnomAD
rs772767584 CA10105017	863	L>P		No	ClinGen ExAC gnomAD
TCGA novel	863	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10105014 rs774932918	865	P>L		No	ClinGen ExAC TOPMed gnomAD
rs762406853 CA10105015	865	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	867	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322126174 rs989771328	867	G>C		No	ClinGen TOPMed gnomAD
rs768227680 CA410694315	867	G>D		No	ClinGen ExAC TOPMed gnomAD
CA410694317 rs989771328	867	G>S		No	ClinGen TOPMed gnomAD
rs768227680 CA10105013	867	G>V		No	ClinGen ExAC TOPMed gnomAD
CA410694299 rs1261527417 COSM3800036	869	D>N	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs745720321 CA10105009	871	S>N		No	ClinGen ExAC gnomAD
CA10105010 rs769307417	871	S>R		No	ClinGen ExAC gnomAD
rs148244081 CA10105008	872	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148244081 CA10105007	872	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771030950 CA322126161	874	P>L		No	ClinGen Ensembl
CA10105003 rs753834271	876	V>L		No	ClinGen ExAC gnomAD
rs753834271 CA410694231	876	V>M		No	ClinGen ExAC gnomAD
rs750888016 CA410694187	879	S>I		No	ClinGen ExAC TOPMed gnomAD
rs750888016 CA10105000	879	S>N		No	ClinGen ExAC TOPMed gnomAD
CA410694183 rs1383836418	879	S>R		No	ClinGen TOPMed gnomAD
rs767998510 CA10104999	880	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	882	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748044245 CA10104966	882	G>S		No	ClinGen ExAC gnomAD
CA322125966 rs1054016102	885	T>N		No	ClinGen Ensembl
rs114219025 CA10104964	886	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10104962 rs781607527	887	S>I		No	ClinGen ExAC gnomAD
rs201801179 CA10104961	887	S>R		No	ClinGen ExAC TOPMed gnomAD
rs62223684 CA10104959	888	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA10104960 rs752026069	888	R>W		No	ClinGen ExAC TOPMed gnomAD
rs758731278 CA10104958	890	V>M		No	ClinGen ExAC TOPMed gnomAD
rs765688298 CA10104956	893	M>I		No	ClinGen ExAC TOPMed gnomAD
CA410693360 rs759083877	894	D>H		No	ClinGen ExAC TOPMed gnomAD
rs759083877 CA10104955	894	D>N		No	ClinGen ExAC TOPMed gnomAD
CA322125939 rs1016345751	895	A>V		No	ClinGen TOPMed
CA10104952 rs760320413	898	P>Q		No	ClinGen ExAC gnomAD
rs766080914 CA10104953	898	P>T		No	ClinGen ExAC gnomAD
CA322125748 rs202000927	900	G>A		No	ClinGen ExAC TOPMed gnomAD
rs202000927 CA10104925 COSM1190388	900	G>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA10104926 rs374705390	900	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA410693313 rs1407188699	901	Y>H		No	ClinGen gnomAD
rs771156379 CA10104924	902	S>A		No	ClinGen ExAC TOPMed gnomAD
CA10104923 rs773343199	902	S>C		No	ClinGen ExAC TOPMed gnomAD
rs771156379 CA410693305	902	S>P		No	ClinGen ExAC TOPMed gnomAD
rs773343199 CA10104922	902	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA10104921 rs772312656	903	T>M		No	ClinGen ExAC TOPMed gnomAD
rs772312656 CA410693299	903	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1366513066 CA410693291	905	D>H		No	ClinGen gnomAD
rs165815 CA410693281	906	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs165815 CA410693282	906	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10104919 rs165815 VAR_024692	906	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs749814206 CA10104917	908	E>D		No	ClinGen ExAC TOPMed gnomAD
rs34638476 RCV000880568 VAR_033531 CA10104915	909	R>Q		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_033530 rs34687532 COSM725589 CA10104916	909	R>W	lung [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10104914 rs377706812	910	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA410693256 rs1213050946	911	P>A		No	ClinGen gnomAD
rs200129576 CA10104911	912	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_033532 RCV000880554 CA10104912 rs34445280	912	R>W		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA10104909 rs201215289	914	A>T		No	ClinGen ExAC gnomAD
rs775595848 CA10104908	914	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA322125696 rs368459939	917	A>S		No	ClinGen Ensembl
CA322125694 rs374701376	917	A>V		No	ClinGen Ensembl
rs760715340 CA10104906	919	E>G		No	ClinGen ExAC gnomAD
CA10104905 rs773325652	920	A>S		No	ClinGen ExAC TOPMed gnomAD
CA410693207 rs773325652	920	A>T		No	ClinGen ExAC TOPMed gnomAD
rs772252724 CA10104904	920	A>V		No	ClinGen ExAC TOPMed gnomAD
rs774502315 CA10104902	922	E>K		No	ClinGen ExAC TOPMed gnomAD
rs377217563 CA322125681	923	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA10104901 rs377217563	923	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10104897 rs745429036	925	P>H		No	ClinGen ExAC TOPMed gnomAD
CA10104898 rs745429036	925	P>R		No	ClinGen ExAC TOPMed gnomAD
rs780579245 CA10104899	925	P>S		No	ClinGen ExAC gnomAD
CA10104900 rs780579245	925	P>T		No	ClinGen ExAC gnomAD
rs1428757344 CA410693146	926	L>*		No	ClinGen TOPMed gnomAD
CA10104870 rs535047174	929	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA410693049 rs1457854741	929	D>V		No	ClinGen gnomAD
CA10104869 rs535047174	929	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs9606199 CA322125416	930	P>H		No	ClinGen Ensembl
rs369021153 CA10104868	931	S>G		No	ClinGen ESP ExAC gnomAD
rs1472630610 CA410693025	931	S>R		No	ClinGen gnomAD
rs751617272 CA10104867	934	A>P		No	ClinGen ExAC TOPMed gnomAD
CA410692983 rs1247982417	935	P>L		No	ClinGen gnomAD
rs1427184716 CA410692989	935	P>S		No	ClinGen TOPMed gnomAD
rs763160044 CA10104866	936	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1465846119 CA410692976	936	P>L		No	ClinGen gnomAD
CA410692978 rs1465846119	936	P>R		No	ClinGen gnomAD
rs763160044 CA10104865	936	P>S		No	ClinGen ExAC TOPMed gnomAD
rs775515599 CA410692973	937	P>A		No	ClinGen ExAC TOPMed gnomAD
CA410692972 rs1208869440	937	P>L		No	ClinGen gnomAD
rs775515599 CA10104864	937	P>S		No	ClinGen ExAC TOPMed gnomAD
rs759779646 CA10104862	938	G>R		No	ClinGen ExAC TOPMed
CA322125374 rs904143455	939	P>L		No	ClinGen Ensembl
CA410692957 rs1569143376	939	P>S		No	ClinGen Ensembl
rs777235118 CA10104861	940	S>R		No	ClinGen ExAC TOPMed gnomAD
rs771538529 CA10104860	941	R>S		No	ClinGen ExAC TOPMed gnomAD
rs746572897 CA410692932	942	P>A		No	ClinGen ExAC TOPMed
CA322125369 rs945566094	942	P>L		No	ClinGen TOPMed gnomAD
rs746572897 CA10104859	942	P>S		No	ClinGen ExAC TOPMed
CA410692918 rs778383588	943	A>E		No	ClinGen ExAC TOPMed gnomAD
CA410692920 rs371704171	943	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371704171 CA10104857	943	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10104856 rs371704171	943	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10104855 rs778383588	943	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10104853 rs368802525	945	R>S		No	ClinGen ESP ExAC gnomAD
rs1005686795 CA322125347	947	V>A		No	ClinGen TOPMed
rs780089885 CA10104852	947	V>M		No	ClinGen ExAC gnomAD
CA410692863 rs910548294	948	D>E		No	ClinGen TOPMed gnomAD
rs1460810978 CA410692873	948	D>N		No	ClinGen gnomAD
CA410692869 rs1460810978	948	D>Y		No	ClinGen gnomAD
rs151063323 CA10104851	949	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs151063323 CA10104850	949	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA410692851 rs1401865586	949	A>V		No	ClinGen TOPMed
rs142907270 CA10104848	950	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1291622922 CA410692829	951	G>E		No	ClinGen TOPMed gnomAD
rs116581773 CA10104846	951	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA322125326 rs919196923	953	A>T		No	ClinGen TOPMed
CA410692804 rs1569143154	953	A>V		No	ClinGen Ensembl
rs776843486 CA10104844	954	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1345652525 CA410692761	955	P>L		No	ClinGen gnomAD
rs540746508 CA10104843	955	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1273080942 CA410692751	956	Q>R		No	ClinGen gnomAD
rs1331847750 CA410692738	957	P>H		No	ClinGen TOPMed gnomAD
CA410692740 rs1202771700	957	P>S		No	ClinGen gnomAD
CA10104841 rs72554700	958	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs747572063 CA10104840	960	S>C		No	ClinGen ExAC gnomAD
CA10104839 rs747572063	960	S>F		No	ClinGen ExAC gnomAD
rs774093074 CA10104838	961	W>C		No	ClinGen ExAC TOPMed gnomAD
rs768175303 CA10104837	963	V>Y		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with O00192

6 regional properties for O00192

Type	Name	Position	InterPro Accession
repeat	Armadillo	389 - 429	IPR000225-1
repeat	Armadillo	432 - 486	IPR000225-2
repeat	Armadillo	534 - 580	IPR000225-3
repeat	Armadillo	651 - 692	IPR000225-4
repeat	Armadillo	698 - 746	IPR000225-5
repeat	Armadillo	789 - 831	IPR000225-6

Functions

		Description
EC Number
Subcellular Localization	Cell junction, adherens junction Nucleus Cytoplasm	In heart, localizes at area composita, the mixed-type junctional structure composed of both desmosomal and adherens junctional proteins
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
messenger ribonucleoprotein complex	A ribonucleoprotein complex containing both protein and messenger RNA (mRNA) molecules.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

1 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.

5 GO annotations of biological process

Name	Definition
calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules	The attachment of one cell to another cell via adhesion molecules that require the presence of calcium for the interaction.
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
cell-cell adhesion	The attachment of one cell to another cell via adhesion molecules.
cell-cell junction assembly	The aggregation, arrangement and bonding together of a set of components to form a junction between cells.
RNA splicing	The process of removing sections of the primary RNA transcript to remove sequences not present in the mature form of the RNA and joining the remaining sections to form the mature form of the RNA.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O60716	CTNND1	Catenin delta-1	Homo sapiens (Human)	PR

10	20	30	40	50	60
MEDCNVHSAA	SILASVKEQE	ARFERLTRAL	EQERRHVALQ	LERAQQPGMV	SGGMGSGQPL
70	80	90	100	110	120
PMAWQQLVLQ	EQSPGSQASL	ATMPEAPDVL	EETVTVEEDP	GTPTSHVSIV	TSEDGTTRRT
130	140	150	160	170	180
ETKVTKTVKT	VTTRTVRQVP	VGPDGLPLLD	GGPPLGPFAD	GALDRHFLLR	GGGPVATLSR
190	200	210	220	230	240
AYLSSGGGFP	EGPEPRDSPS	YGSLSRGLGM	RPPRAGPLGP	GPGDGCFTLP	GHREAFPVGP
250	260	270	280	290	300
EPGPPGGRSL	PERFQAEPYG	LEDDTRSLAA	DDEGGPELEP	DYGTATRRRP	ECGRGLHTRA
310	320	330	340	350	360
YEDTADDGGE	LADERPAFPM	VTAPLAQPER	GSMGSLDRLV	RRSPSVDSAR	KEPRWRDPEL
370	380	390	400	410	420
PEVLAMLRHP	VDPVKANAAA	YLQHLCFENE	GVKRRVRQLR	GLPLLVALLD	HPRAEVRRRA
430	440	450	460	470	480
CGALRNLSYG	RDTDNKAAIR	DCGGVPALVR	LLRAARDNEV	RELVTGTLWN	LSSYEPLKMV
490	500	510	520	530	540
IIDHGLQTLT	HEVIVPHSGW	EREPNEDSKP	RDAEWTTVFK	NTSGCLRNVS	SDGAEARRRL
550	560	570	580	590	600
RECEGLVDAL	LHALQSAVGR	KDTDNKSVEN	CVCIMRNLSY	HVHKEVPGAD	RYQEAEPGPL
610	620	630	640	650	660
GSAVGSQRRR	RDDASCFGGK	KAKEEWFHQG	KKDGEMDRNF	DTLDLPKRTE	AAKGFELLYQ
670	680	690	700	710	720
PEVVRLYLSL	LTESRNFNTL	EAAAGALQNL	SAGNWMWATY	IRATVRKERG	LPVLVELLQS
730	740	750	760	770	780
ETDKVVRAVA	IALRNLSLDR	RNKDLIGSYA	MAELVRNVRN	AQAPPRPGAC	LEEDTVVAVL
790	800	810	820	830	840
NTIHEIVSDS	LDNARSLLQA	RGVPALVALV	ASSQSVREAK	AASHVLQTVW	SYKELRGTLQ
850	860	870	880	890	900
KDGWTKARFQ	SAAATAKGPK	GALSPGGFDD	STLPLVDKSL	EGEKTGSRDV	IPMDALGPDG
910	920	930	940	950	960
YSTVDRRERR	PRGASSAGEA	SEKEPLKLDP	SRKAPPPGPS	RPAVRLVDAV	GDAKPQPVDS

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