AiPD: Autoinhibited Protein Database

Q6XZF7

Gene name	DNMBP
Protein name	Dynamin-binding protein
Names	Scaffold protein Tuba
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23268
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1440-1509 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1440-1509 (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

8 structures for Q6XZF7

Entry ID	Method	Resolution	Chain	Position	Source
1UG1	NMR	-	A	1278-1355	PDB
1UHC	NMR	-	A	1510-1575	PDB
4CC2	X-ray	155 A	A/C	1513-1577	PDB
4CC3	X-ray	197 A	A/C/E/G	1513-1577	PDB
4CC4	X-ray	260 A	B/D/F	1513-1577	PDB
4CC7	X-ray	197 A	A/C/E/G/I/K/M	1513-1577	PDB
4GLM	X-ray	190 A	A/B/C/D	246-301	PDB
AF-Q6XZF7-F1	Predicted				AlphaFoldDB

1306 variants for Q6XZF7

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000770779 CA378115913 rs1564745688	271	R>*	Variant assessed as Somatic; impact. Cataract 48 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
VAR_081450	271	R>del	CTRCT48 [UniProt]	Yes	UniProt
rs1564723150 RCV000770781	951	T>missing	Cataract 48 [ClinVar]	Yes	ClinVar dbSNP
RCV000770780 rs1564722302	982	E>*	Cataract 48 [ClinVar]	Yes	ClinVar dbSNP
rs1589445106 CA378122314	2	E>G		No	ClinGen Ensembl
CA5645486 rs139409634	2	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA212877350 rs999637164	3	A>V		No	ClinGen Ensembl
rs1233847870 CA378122262	4	G>V		No	ClinGen TOPMed
CA378122222 rs1589445085	7	V>G		No	ClinGen Ensembl
rs1345434142 CA378122232	7	V>I		No	ClinGen TOPMed
CA5645484 rs755674215	8	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378122220 rs755674215	8	R>G		No	ClinGen ExAC TOPMed gnomAD
rs933188045 CA212877321	8	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA378122198 rs200839018	10	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753212146 CA5645480	10	I>S		No	ClinGen ExAC
CA5645481 rs200839018	10	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5645479 rs539423890	12	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539423890 CA378122160	12	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759922163 CA5645478	13	F>L		No	ClinGen ExAC TOPMed gnomAD
CA378122102 rs1589445070	17	V>G		No	ClinGen Ensembl
CA5645476 COSM70506 rs373271192	17	V>I	lung ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA378122061 rs1166551504	20	E>K		No	ClinGen TOPMed
rs772339710 CA5645473	22	P>A		No	ClinGen ExAC gnomAD
rs116593720 CA5645472	22	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378122024 rs116593720	22	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA212877224 rs941684804	26	G>E		No	ClinGen gnomAD
CA378121964 rs1268452549	27	D>G		No	ClinGen gnomAD
rs369221824 CA5645470	28	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755931406 CA5645467	36	D>H		No	ClinGen ExAC gnomAD
rs1241957960 CA378121801	37	E>*		No	ClinGen gnomAD
rs376918039 CA5645465	38	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs199861729 CA5645466	38	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5645464 rs756760584	40	L>F		No	ClinGen ExAC gnomAD
rs950442097 CA212877191	43	K>R		No	ClinGen Ensembl
CA5645463 rs751026373	46	D>G		No	ClinGen ExAC gnomAD
CA5645461 rs765753470	48	T>I		No	ClinGen ExAC gnomAD
rs770519132 CA378121033	51	F>C		No	ClinGen ExAC gnomAD
CA5645445 rs770519132	51	F>S		No	ClinGen ExAC gnomAD
CA378121041 rs1407007402	51	F>V		No	ClinGen TOPMed
rs372324249 CA212875178	52	P>L		No	ClinGen ESP TOPMed
CA212875182 rs372324249	52	P>R		No	ClinGen ESP TOPMed
CA378121012 rs1324453044	53	S>G		No	ClinGen gnomAD
CA378120959 rs1352513839	56	V>M		No	ClinGen TOPMed
rs1034326111 CA212875176	57	E>D		No	ClinGen Ensembl
CA378120921 rs1237763492	58	I>M		No	ClinGen gnomAD
rs139502777 CA5645442	58	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA378120910 rs1375026546	59	V>G		No	ClinGen gnomAD
CA378120920 rs1400803581	59	V>M		No	ClinGen gnomAD
rs1311312634 CA378120888	61	I>V		No	ClinGen gnomAD
CA5645441 rs754364848	66	E>D		No	ClinGen ExAC gnomAD
CA5645440 rs780556113	68	E>G		No	ClinGen ExAC gnomAD
CA5645439 rs756439722	69	R>G		No	ClinGen ExAC gnomAD
rs527938908 CA5645437	71	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs78882305 CA378120717	71	F>L		No	ClinGen gnomAD
rs1194796104 CA378120714	71	F>S		No	ClinGen gnomAD
rs78882305 CA212875117	71	F>V		No	ClinGen gnomAD
rs1256296806 CA378120674	73	C>S		No	ClinGen gnomAD
CA378120637 rs1589443815	75	C>Y		No	ClinGen Ensembl
CA378120571 rs1443640302	78	T>R		No	ClinGen gnomAD
CA5645433 rs763031370	80	Q>*		No	ClinGen ExAC gnomAD
VAR_050955 rs12267912 CA5645431	81	E>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs776456718 CA5645429	84	N>H		No	ClinGen ExAC gnomAD
rs770678721 CA5645428	87	L>I		No	ClinGen ExAC gnomAD
rs1341121073 CA378120376	88	H>R		No	ClinGen TOPMed gnomAD
CA212875040 rs1043169646	89	R>*		No	ClinGen TOPMed
rs777394328 CA5645426 COSM426920	89	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA378119163 rs1380115403	90	G>D		No	ClinGen gnomAD
CA378119152 rs1406892647	91	D>V		No	ClinGen TOPMed
rs541350785 CA212867550	93	V>M		No	ClinGen 1000Genomes TOPMed
rs1444583702 CA378119120	95	L>F		No	ClinGen gnomAD
CA378119111 rs1332627446	96	D>H		No	ClinGen TOPMed gnomAD
rs1332627446 CA378119112	96	D>N		No	ClinGen TOPMed gnomAD
CA378119096 rs1184894337	97	G>D		No	ClinGen gnomAD
CA378119087 rs759556841	98	I>F		No	ClinGen ExAC gnomAD
CA5645412 rs759556841	98	I>V		No	ClinGen ExAC gnomAD
rs1406348528 CA378119076	99	P>S		No	ClinGen gnomAD
CA212867539 rs985098351	100	T>A		No	ClinGen TOPMed gnomAD
CA378119063 rs1157644445	101	A>S		No	ClinGen gnomAD
CA5645410 rs766222713	103	W>C		No	ClinGen ExAC TOPMed gnomAD
CA5645411 rs776548346	103	W>L		No	ClinGen ExAC gnomAD
rs760408417 CA5645409	104	L>R		No	ClinGen ExAC
CA5645408 rs772860432	105	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA378119005 rs1223439922	105	Q>H		No	ClinGen gnomAD
rs980144796 CA212867512	105	Q>R		No	ClinGen TOPMed gnomAD
CA5645407 rs771715835	107	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM299183 rs922498924 CA212867478	107	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA378118966 rs1285879318	109	C>Y		No	ClinGen TOPMed
rs868363517 CA212867461	110	W>*		No	ClinGen Ensembl
CA378118933 rs1488915914	111	G>D		No	ClinGen TOPMed
CA5645405 rs201560883	112	A>T		No	ClinGen ExAC TOPMed gnomAD
rs370012463 CA5645403	113	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5645404 rs573860858	113	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378118847 rs781740819	116	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5645400 rs747337569	117	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757699328 CA5645401	117	P>S		No	ClinGen ExAC TOPMed gnomAD
CA378118820 rs1420203122	118	S>A		No	ClinGen TOPMed
rs952878688 CA212867430	119	S>*		No	ClinGen TOPMed gnomAD
rs952878688 CA378118801	119	S>L		No	ClinGen TOPMed gnomAD
CA378118798 rs1417539686	120	C>R		No	ClinGen TOPMed gnomAD
CA378118787 rs1381596489	120	C>W		No	ClinGen TOPMed gnomAD
rs139729649 CA5645396	122	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1422909834 CA378118767	122	R>H		No	ClinGen TOPMed gnomAD
rs139729649 CA5645397	122	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs766241031 CA5645393	123	E>G		No	ClinGen ExAC gnomAD
CA5645394 rs753790207	123	E>K		No	ClinGen ExAC TOPMed gnomAD
rs375722443 CA212867409	124	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA378118744 rs1489415861	124	L>P		No	ClinGen TOPMed gnomAD
rs375722443 CA5645392	124	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	127	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378118683 rs1436270425	129	Q>E		No	ClinGen TOPMed
CA5645390 rs767195437	131	R>Q		No	ClinGen ExAC gnomAD
CA5645391 rs772943085	131	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773872765 CA5645388	134	H>P		No	ClinGen ExAC TOPMed gnomAD
rs374469305 CA5645387	135	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	137	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378118512 rs530209398	138	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5645385 rs530209398	138	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1362011307 CA378118509	138	A>V		No	ClinGen gnomAD
CA5645383 rs371156348	143	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5645380 rs748462462	144	E>K		No	ClinGen ExAC gnomAD
rs1433753058 CA378118357	147	M>I		No	ClinGen gnomAD
rs778947567 CA5645379	147	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1422614295 CA378118314	150	A>T		No	ClinGen gnomAD
rs138795130 CA5645377 COSM2057687	151	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs755058310 COSM1284573 CA5645378	151	R>W	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs143249554 CA5645376	152	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486984655 CA378117323	154	M>T		No	ClinGen TOPMed gnomAD
CA5645374 rs750298221	155	G>R		No	ClinGen ExAC gnomAD
TCGA novel	158	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767415602 CA5645373	158	A>V		No	ClinGen ExAC gnomAD
CA5645371 rs751226937	159	Q>R		No	ClinGen ExAC gnomAD
CA378117245 rs1257806623	161	D>V		No	ClinGen TOPMed
CA5645369 rs762574054	162	E>K		No	ClinGen ExAC TOPMed gnomAD
CA378117213 rs1258967058	164	L>P		No	ClinGen TOPMed
rs114527314 CA5645367	165	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs938876285 CA212867276	165	D>V		No	ClinGen gnomAD
CA5645366 rs761327950	167	R>T		No	ClinGen ExAC gnomAD
rs373091913 CA5645365	170	D>N		No	ClinGen ESP ExAC gnomAD
CA212867248 rs906134056	170	D>V		No	ClinGen Ensembl
CA5645364 rs200336562	174	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA378117072 rs1589438356	175	I>F		No	ClinGen Ensembl
CA5645362 rs779231022	179	E>Q		No	ClinGen ExAC gnomAD
rs768822004 CA5645361	180	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	186	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150440847 CA5645360	188	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA378116859 rs1341921202	189	G>D		No	ClinGen gnomAD
CA5645358 rs756184271	189	G>S		No	ClinGen ExAC gnomAD
COSM913862 rs202042155 CA5645357	190	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA212867185 rs867887326	195	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA378116778 rs1270920407	196	E>*		No	ClinGen gnomAD
rs751263823 CA5645354	197	G>S		No	ClinGen ExAC gnomAD
rs763959740 CA5645353	199	V>I		No	ClinGen ExAC
CA378116703 rs1169443382	201	L>Q		No	ClinGen TOPMed
rs1396045518 CA378116678	203	G>R		No	ClinGen gnomAD
CA5645350 rs764895879	204	P>S		No	ClinGen ExAC TOPMed gnomAD
CA378116647 rs1329221060	206	R>K		No	ClinGen TOPMed gnomAD
rs1329221060 CA378116643	206	R>M		No	ClinGen TOPMed gnomAD
CA5645349 rs761895159	207	T>I		No	ClinGen ExAC TOPMed gnomAD
CA378116608 rs1400729297	209	D>G		No	ClinGen gnomAD
rs1400729297 CA378116606	209	D>V		No	ClinGen gnomAD
CA378116580 rs1162472733	211	S>A		No	ClinGen gnomAD
CA378116560 rs1304130223	213	S>G		No	ClinGen TOPMed
rs984337855 CA212867153	213	S>N		No	ClinGen TOPMed
rs373777411 CA5645348 COSM3751485	214	S>F	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs762264442 CA5645346	217	Q>E		No	ClinGen ExAC gnomAD
CA212867140 rs142168168	217	Q>H		No	ClinGen ESP TOPMed
CA378116473 rs1439161172	218	D>E		No	ClinGen gnomAD
rs747967350 CA5645345	220	C>R		No	ClinGen ExAC TOPMed gnomAD
CA378116446 rs1181032049	220	C>Y		No	ClinGen gnomAD
CA378116425 rs1305003013	221	I>M		No	ClinGen gnomAD
CA212867119 rs751869236	221	I>N		No	ClinGen Ensembl
CA5645344 rs768977615	221	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5645343 rs749579501	224	G>D		No	ClinGen ExAC gnomAD
CA378116370 rs1208381503	225	E>K		No	ClinGen gnomAD
rs780243812 CA378116296	228	T>N		No	ClinGen ExAC gnomAD
CA5645342 rs780243812	228	T>S		No	ClinGen ExAC gnomAD
CA378116279 rs1210346297	229	P>R		No	ClinGen TOPMed
rs1245146679 CA378116244	232	E>V		No	ClinGen gnomAD
rs1564745734 CA378116239	233	E>*		No	ClinGen Ensembl
rs745894499 CA5645339	235	I>M		No	ClinGen ExAC gnomAD
CA5645337 rs147616355	237	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1392699065 CA378116139	240	D>E		No	ClinGen gnomAD
rs1384796877 CA378116153	240	D>N		No	ClinGen gnomAD
rs751478423 CA5645336	241	E>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	245	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5645331 rs752409286	247	Y>C		No	ClinGen ExAC gnomAD
CA5645328 rs368686292 COSM1179215	250	A>T	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA378116042 rs1487780061	252	Y>C		No	ClinGen gnomAD
CA5645325 rs539098662	256	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1274178578 CA378115963	263	D>E		No	ClinGen gnomAD
rs79131099 CA5645322	265	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378115945 rs1320829370	266	V>F		No	ClinGen TOPMed
rs769952147 CA5645320	267	G>R		No	ClinGen ExAC
CA5645319 rs746076549	269	K>E		No	ClinGen ExAC gnomAD
CA378115908 rs1300293830	272	I>V		No	ClinGen gnomAD
rs776610175 CA212867042	274	A>E		No	ClinGen ExAC gnomAD
rs776610175 CA5645318	274	A>V		No	ClinGen ExAC gnomAD
CA378115880 rs1479317708	277	E>K		No	ClinGen gnomAD
CA212867028 rs1035837240	278	D>G		No	ClinGen TOPMed
CA5645315 rs777792867	278	D>N		No	ClinGen ExAC gnomAD
rs1035837240 CA378115870	278	D>V		No	ClinGen TOPMed
rs758275310 CA5645314 COSM913860	280	W>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs747913518 CA5645313	281	L>Q		No	ClinGen ExAC gnomAD
rs778731802 CA5645312	284	S>F		No	ClinGen ExAC
CA378115810 rs1489019750	288	R>G		No	ClinGen TOPMed
rs151228609 CA5645311	288	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753501911 CA5645310	289	T>I		No	ClinGen ExAC TOPMed gnomAD
rs765875588 CA5645309	291	I>V		No	ClinGen ExAC TOPMed gnomAD
rs755640560 CA5645308	295	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1277365854 CA378115764	295	R>W		No	ClinGen TOPMed gnomAD
rs763328041 CA212867006	304	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5645304 rs775878485	304	R>Q		No	ClinGen ExAC gnomAD
CA5645305 COSM1675490 rs763328041	304	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1302412208 CA378115695	306	E>K		No	ClinGen TOPMed
rs1589438056 CA378115667	309	M>I		No	ClinGen Ensembl
rs759743198 CA378115657	311	L>V		No	ClinGen ExAC TOPMed gnomAD
CA212866994 rs1011988269	316	S>N		No	ClinGen TOPMed
rs1403470088 CA378115605	317	L>V		No	ClinGen gnomAD
CA5645298 rs773316075	320	I>V		No	ClinGen ExAC gnomAD
CA5645297 rs368350581	321	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1239325376 CA378115565	321	P>T		No	ClinGen TOPMed
rs778891465 CA5645295 COSM137992	322	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs144945375 CA5645293	323	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5645294 rs144945375	323	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA212866955 rs267602336	324	S>F		No	ClinGen Ensembl
rs538445537 CA5645292	324	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA378115482 rs1198462671	327	C>Y		No	ClinGen TOPMed gnomAD
CA5645291 rs755586547	329	E>V		No	ClinGen ExAC gnomAD
CA378115438 rs1316271492	330	N>K		No	ClinGen TOPMed gnomAD
rs374869913 CA5645289	331	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5645288 rs780654958	334	V>L		No	ClinGen ExAC gnomAD
rs758940769 CA5645287	336	E>K		No	ClinGen ExAC gnomAD
rs144042959 CA5645286	339	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5645285 rs765578601	341	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1331247060 CA378115282	344	H>R		No	ClinGen gnomAD
CA5645283 rs754009344	344	H>Y		No	ClinGen ExAC gnomAD
rs1272942568 CA378115273	345	E>K		No	ClinGen TOPMed gnomAD
CA378115258 rs1359859318	346	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5645282 COSM458927 rs766585897	347	E>K	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1589437978 CA378115240	348	E>K		No	ClinGen Ensembl
CA378115209 rs1405166257	350	D>V		No	ClinGen gnomAD
rs1412552213 CA378115203	351	C>R		No	ClinGen gnomAD
CA378115135 rs1161097164	357	P>T		No	ClinGen gnomAD
rs1445782287 CA378115123	358	T>S		No	ClinGen TOPMed
rs1309842935 CA378115100	360	P>R		No	ClinGen TOPMed
rs1456417383 CA378115094	361	L>F		No	ClinGen gnomAD
rs768352811 CA5645276	362	G>C		No	ClinGen ExAC TOPMed gnomAD
rs768352811 CA5645275	362	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5645274 rs749048632	363	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs749677384 CA5645273	364	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs769482234 CA5645272	365	T>A		No	ClinGen ExAC gnomAD
TCGA novel	367	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5645271 rs745486203	368	Y>*		No	ClinGen ExAC gnomAD
CA212866863 rs753215922	371	D>E		No	ClinGen ExAC TOPMed gnomAD
rs756746180 CA5645269	371	D>G		No	ClinGen ExAC gnomAD
rs35924554 VAR_050956 CA5645267	373	N>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378114907 rs1235010965	374	S>Y		No	ClinGen TOPMed
CA5645265 rs754184398	375	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA378114902 rs1477308946	375	Y>H		No	ClinGen TOPMed
CA5645266 rs754184398	375	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA5645264 rs766632356	376	Q>H		No	ClinGen ExAC gnomAD
CA5645263 rs560503880	377	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5645262 rs146369620	378	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770137029 CA5645261	379	D>E		No	ClinGen ExAC gnomAD
rs774163097 CA5645259	381	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768601545 CA5645258	383	G>R		No	ClinGen ExAC gnomAD
rs1176788209 CA378114771	384	P>L		No	ClinGen gnomAD
CA5645257 rs143875074	385	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5645256 rs143875074	385	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1003434258 CA212866799	387	S>G		No	ClinGen gnomAD
CA5645254 rs199802150	388	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs201994777 CA378114684	390	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs201994777 CA5645252	390	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368614698 CA5645251	394	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1308329955 CA378114570	397	A>S		No	ClinGen gnomAD
CA378114560 rs1219214487	397	A>V		No	ClinGen gnomAD
rs779307958 CA5645250	399	D>G		No	ClinGen ExAC TOPMed gnomAD
rs562005580 CA212866788	399	D>N		No	ClinGen 1000Genomes
TCGA novel	399	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378114514 rs1405966152	400	S>A		No	ClinGen gnomAD
rs755559430 CA5645249	400	S>C		No	ClinGen ExAC gnomAD
rs749727696 CA5645248	401	P>A		No	ClinGen ExAC gnomAD
TCGA novel	404	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378114404 rs1471425871	405	P>S		No	ClinGen TOPMed gnomAD
CA378114408 rs1471425871	405	P>T		No	ClinGen TOPMed gnomAD
rs756538401 CA5645246	406	T>A		No	ClinGen ExAC gnomAD
CA378114381 rs1159717443	406	T>I		No	ClinGen TOPMed gnomAD
rs1413879650 CA378114368	407	E>G		No	ClinGen gnomAD
rs1450304065 CA378114318	409	V>G		No	ClinGen TOPMed
rs1275548220 CA378114338	409	V>I		No	ClinGen TOPMed
rs767785018 CA5645242	410	N>S		No	ClinGen ExAC TOPMed gnomAD
rs757446966 CA5645241	411	G>D		No	ClinGen ExAC TOPMed gnomAD
CA5645240 rs148099898	413	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	414	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5645238 rs763010813	415	Q>R		No	ClinGen ExAC gnomAD
rs1310914007 CA378114207	416	P>S		No	ClinGen gnomAD
CA5645237 rs775272587	418	V>G		No	ClinGen ExAC gnomAD
rs1224441447 CA378114154 COSM139856	419	P>S	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs915757051 CA212866682	421	H>R		No	ClinGen TOPMed gnomAD
rs1277175042 CA378114093	422	P>S		No	ClinGen TOPMed gnomAD
CA378114078 rs1169931937	423	N>H		No	ClinGen TOPMed
CA5645236 rs375689275	423	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs938789739 CA212866671	424	L>F		No	ClinGen TOPMed gnomAD
rs759259788 CA5645235	425	Q>K		No	ClinGen ExAC gnomAD
CA5645234 rs776294474	425	Q>R		No	ClinGen ExAC gnomAD
CA5645233 rs370660568	428	Q>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370660568 CA5645232	428	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5645231 rs772820983	430	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA378113884 rs1406192785	432	T>A		No	ClinGen TOPMed
CA378113861 rs1295778931	433	V>A		No	ClinGen TOPMed
rs749864664 CA5645229	434	G>E		No	ClinGen ExAC gnomAD
rs144708424 CA5645228	435	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA212866609 rs914538687	436	S>C		No	ClinGen TOPMed
rs1262730070 CA378113807	437	H>R		No	ClinGen gnomAD
CA5645227 rs756556798	438	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5645225 rs143123741	439	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	441	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378113755 rs1225576079	442	Q>R		No	ClinGen TOPMed gnomAD
rs751724292 CA5645222	443	Y>*		No	ClinGen ExAC gnomAD
rs757536582 CA5645223	443	Y>D		No	ClinGen ExAC gnomAD
COSM913857 rs1308846092 CA378113727	445	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1295870335 CA378113722	445	D>V		No	ClinGen gnomAD
rs1308846092 CA378113729	445	D>Y		No	ClinGen TOPMed gnomAD
rs758347782 CA5645220	447	L>P		No	ClinGen ExAC gnomAD
rs953581942 CA5645218	448	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs752683981 CA5645217	449	L>V		No	ClinGen ExAC gnomAD
rs1453343035 CA378113679	450	E>Q		No	ClinGen gnomAD
CA5645215 rs759347340	451	A>G		No	ClinGen ExAC gnomAD
rs368211861 CA212866510	451	A>S		No	ClinGen gnomAD
rs368211861 CA378113669	451	A>T		No	ClinGen gnomAD
CA5645214 rs776457107	452	R>K		No	ClinGen ExAC gnomAD
CA378113642 rs1589437680	454	R>G		No	ClinGen Ensembl
CA5645211 rs760443577	455	D>G		No	ClinGen ExAC gnomAD
rs760443577 CA5645212	455	D>V		No	ClinGen ExAC gnomAD
CA212866459 rs757390775	458	S>T		No	ClinGen Ensembl
CA378113572 rs1387221686	460	P>L		No	ClinGen gnomAD
rs771629760 CA5645208	462	K>E		No	ClinGen ExAC gnomAD
CA378113548 rs1457680083	463	R>G		No	ClinGen gnomAD
CA5645207 rs747549558	463	R>I		No	ClinGen ExAC TOPMed gnomAD
CA212866439 rs201131040	464	M>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA5645205 rs770379414	464	M>R		No	ClinGen ExAC gnomAD
CA5645206 rs545683775	464	M>V		No	ClinGen ExAC TOPMed gnomAD
CA378113518 rs1243694283	465	Y>C		No	ClinGen gnomAD
CA5645204 rs115278752	466	S>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781731318 CA5645203	468	L>Q		No	ClinGen ExAC gnomAD
rs771183621 CA5645202	469	K>E		No	ClinGen ExAC
rs1375993426 CA378113462	469	K>R		No	ClinGen gnomAD
CA378113449 rs1589437635	470	T>P		No	ClinGen Ensembl
CA378113426 rs1307007913	471	L>R		No	ClinGen gnomAD
rs1038614965 CA212866406	472	Q>E		No	ClinGen TOPMed
CA5645201 rs747265091	472	Q>P		No	ClinGen ExAC gnomAD
CA378113407 rs1384727764	473	K>R		No	ClinGen gnomAD
CA212866388 rs997666120	474	P>L		No	ClinGen TOPMed
rs141366327 CA5645198	476	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs74892531 CA5645197	477	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA212866364 rs941264877	477	P>S		No	ClinGen TOPMed
CA5645195 rs553399057	478	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs116826398 CA5645194	479	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1285117897 CA378113331	481	G>C		No	ClinGen TOPMed
CA212866334 rs1003923630	481	G>D		No	ClinGen TOPMed
CA212866331 rs116020742	482	S>C		No	ClinGen 1000Genomes TOPMed
CA378113317 rs116020742	482	S>Y		No	ClinGen 1000Genomes TOPMed
CA378113288 rs1420040868	485	S>L		No	ClinGen gnomAD
CA212866323 rs752207783	486	A>T		No	ClinGen Ensembl
rs1357111456 CA378113249	489	V>A		No	ClinGen gnomAD
rs1400843414 CA378113247	490	V>I		No	ClinGen TOPMed gnomAD
CA5645191 rs767041991	492	P>R		No	ClinGen ExAC gnomAD
rs138639011 CA5645190	493	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1352337400 CA378113200	494	Q>*		No	ClinGen gnomAD
CA5645189 rs774055890	497	P>L		No	ClinGen ExAC TOPMed gnomAD
CA378113139 rs1241168553	498	Q>*		No	ClinGen TOPMed gnomAD
rs377653797 CA5645188	500	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1384884995 CA378113080	501	N>S		No	ClinGen gnomAD
CA378113052 rs1347559087	503	A>E		No	ClinGen gnomAD
rs777216340 CA5645186	504	S>R		No	ClinGen ExAC TOPMed gnomAD
CA378113030 rs1419171415	504	S>R		No	ClinGen gnomAD
rs771327589 CA5645185	506	T>P		No	ClinGen ExAC gnomAD
rs771327589 CA378112998	506	T>S		No	ClinGen ExAC gnomAD
TCGA novel	509	H>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747295972 CA5645184	509	H>D		No	ClinGen ExAC TOPMed gnomAD
rs747295972 CA378112947	509	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA5645183 rs556821754	510	H>P		No	ClinGen 1000Genomes ExAC gnomAD
CA5645182 rs772230379	511	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5645181 rs199965546 COSM271217	511	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA212866240 rs980579306	512	S>F		No	ClinGen TOPMed gnomAD
rs969550815 CA212866232	513	S>N		No	ClinGen Ensembl
CA5645179 rs755039747	516	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	516	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378112779 rs1281583324	517	I>T		No	ClinGen gnomAD
rs1023092067 CA212866229	517	I>V		No	ClinGen gnomAD
CA378112748 rs1351250528	520	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs571038505 CA5645176	523	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1182625857 CA378112679	524	K>N		No	ClinGen gnomAD
rs150179241 CA5645175	527	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1254297350 CA378112594	530	Q>R		No	ClinGen TOPMed
rs1201191527 CA378112577	531	G>R		No	ClinGen TOPMed
CA5645173 rs373555670	532	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA378112537 rs751241870	533	V>F		No	ClinGen ExAC TOPMed gnomAD
CA5645172 rs751241870	533	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5645171 rs763706073	534	M>T		No	ClinGen ExAC TOPMed gnomAD
CA378112492 rs1235993590	535	E>V		No	ClinGen gnomAD
rs1171339335 CA378112461	536	A>V		No	ClinGen gnomAD
CA5645169 rs370572308	539	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA378112419 rs1430500810	539	H>N		No	ClinGen gnomAD
CA5645168 rs766746822	540	S>L		No	ClinGen ExAC gnomAD
CA212866197 rs998812346	543	D>G		No	ClinGen Ensembl
rs534314610 CA5645166	544	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA378112300 rs1255382495	545	S>N		No	ClinGen gnomAD
rs1589437437 CA378112259	547	D>A		No	ClinGen Ensembl
rs1201762401 CA378112262	547	D>N		No	ClinGen gnomAD
rs114457904 CA5645163	550	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA212866182 rs914571786	552	L>M		No	ClinGen TOPMed gnomAD
rs768728054 CA5645161	553	T>I		No	ClinGen ExAC gnomAD
CA378112146 rs1464348522	553	T>P		No	ClinGen TOPMed
CA378112059 rs1340015392	557	I>L		No	ClinGen TOPMed gnomAD
rs150933450 CA5645158	558	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1330526186 CA378111984	560	E>G		No	ClinGen TOPMed
CA5645157 rs745790586	561	K>N		No	ClinGen ExAC gnomAD
CA212866152 rs111435436	564	A>T		No	ClinGen Ensembl
CA5645156 rs780904934	564	A>V		No	ClinGen ExAC gnomAD
rs1395293451 CA378111878	565	G>R		No	ClinGen gnomAD
rs757057505 CA5645155	566	P>T		No	ClinGen ExAC gnomAD
CA212866125 rs755012142	567	G>D		No	ClinGen Ensembl
CA5645153 rs528635086	567	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5645152 rs758003752	568	T>P		No	ClinGen ExAC gnomAD
rs1181651477 CA378111762 COSM913855	569	E>D	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs887005500 CA212866117	570	P>A		No	ClinGen TOPMed
TCGA novel	571	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5645149 rs761151458	573	I>M		No	ClinGen ExAC gnomAD
rs1197711904 CA378111667	573	I>T		No	ClinGen TOPMed gnomAD
rs764771019 CA5645150	573	I>V		No	ClinGen ExAC TOPMed gnomAD
rs144024458 CA212866083	575	R>C		No	ClinGen ESP TOPMed gnomAD
rs773758559 CA5645148	575	R>H		No	ClinGen ExAC TOPMed gnomAD
rs144024458 CA378111637	575	R>S		No	ClinGen ESP TOPMed gnomAD
CA378111592 rs1290337858	576	H>R		No	ClinGen gnomAD
CA5645146 rs762099329	579	I>V		No	ClinGen ExAC gnomAD
rs774590315 CA5645145	581	D>N		No	ClinGen ExAC TOPMed gnomAD
rs768821866 CA5645144	582	F>L		No	ClinGen ExAC gnomAD
CA378111439 rs1309177793	582	F>L		No	ClinGen gnomAD
rs749491625 CA5645143	582	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs775474951 CA5645142	586	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1330451500 CA378111331	587	D>A		No	ClinGen gnomAD
CA212866008 rs938991113	588	I>V		No	ClinGen Ensembl
CA212866000 rs951138392	590	R>*		No	ClinGen TOPMed gnomAD
CA378111286 rs951138392	590	R>G		No	ClinGen TOPMed gnomAD
rs374443440 CA5645138	590	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA378111266 rs1385712571	591	G>D		No	ClinGen gnomAD
CA5645137 rs746750816	592	S>F		No	ClinGen ExAC gnomAD
rs111969797 CA5645136	593	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5645135 rs760509171	597	T>A		No	ClinGen ExAC TOPMed gnomAD
CA212865933 rs990318244	598	E>G		No	ClinGen Ensembl
CA5645132 rs148782043	598	E>K		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA212865932 rs144390835	599	Q>R		No	ClinGen ESP TOPMed
rs1307797223 CA378111062	600	E>D		No	ClinGen TOPMed
rs531493013 CA5645129	602	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531493013 CA378111032	602	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5645130 rs764712622	602	P>S		No	ClinGen ExAC gnomAD
rs750901589 CA5645128	603	E>G		No	ClinGen ExAC gnomAD
rs767973314 CA5645127	606	K>R		No	ClinGen ExAC TOPMed gnomAD
CA378110915 rs1262612216	607	A>T		No	ClinGen gnomAD
rs150063015 CA378110887	609	R>K		No	ClinGen ESP ExAC gnomAD
CA5645126 rs150063015	609	R>T		No	ClinGen ESP ExAC gnomAD
rs1564744850 CA595642723	610	P>*		No	ClinGen Ensembl
CA5645125 rs751972695	611	P>A		No	ClinGen ExAC
CA5645124 rs563967846	611	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs114826401 CA5645123	612	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5645122 rs527427712	613	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527427712 CA378110815	613	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759618419 CA5645121	614	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5645120 rs759618419	614	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5645118 rs147462477	614	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5645119 rs147462477	614	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759618419 CA378110806	614	R>S		No	ClinGen ExAC TOPMed gnomAD
CA212865845 rs931964547	616	C>W		No	ClinGen TOPMed
rs541515848 CA5645117	616	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1398920530 CA378110723	617	T>I		No	ClinGen gnomAD
rs1410109345 CA378110716	618	P>A		No	ClinGen gnomAD
CA5645116 rs777776503	618	P>L		No	ClinGen ExAC gnomAD
CA5645114 rs747769784	619	V>L		No	ClinGen ExAC gnomAD
CA212865818 rs1017457833	621	T>A		No	ClinGen Ensembl
CA378110659 rs1262621739	621	T>I		No	ClinGen gnomAD
CA5645111 rs753342075	624	H>Y		No	ClinGen ExAC
CA5645110 rs779519446	625	L>S		No	ClinGen ExAC gnomAD
rs764452068 CA5645107	628	D>V		No	ClinGen ExAC TOPMed gnomAD
rs763306396 CA5645106	629	Q>E		No	ClinGen ExAC gnomAD
CA378110458 rs1280954521	632	K>N		No	ClinGen gnomAD
rs752891917 CA5645105	634	A>V		No	ClinGen ExAC gnomAD
rs976336138 CA212865782	636	P>H		No	ClinGen TOPMed
TCGA novel	637	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1589437163 CA378110392	637	L>W		No	ClinGen Ensembl
rs768019815 CA212865779	639	V>A		No	ClinGen Ensembl
rs1159828163 CA378110354	640	R>*		No	ClinGen gnomAD
CA5645101 rs771129840 COSM913853	640	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs139122036 CA5645099	643	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5645098 rs544922058	643	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139122036 CA378110306	643	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5645097 rs747937106	644	P>L		No	ClinGen ExAC TOPMed gnomAD
CA378110265 rs1243198786	646	P>S		No	ClinGen TOPMed gnomAD
rs1185897557 CA378110249	647	L>P		No	ClinGen TOPMed
CA378110237 rs1460244266	648	P>L		No	ClinGen gnomAD
rs768407527 CA5645095	650	S>L		No	ClinGen ExAC gnomAD
rs778454745 CA5645096	650	S>P		No	ClinGen ExAC TOPMed gnomAD
rs779609451 CA5645093	653	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs577589150 CA378110129	655	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577589150 CA5645092	655	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1363527497 CA378110116	656	N>S		No	ClinGen TOPMed gnomAD
rs115222765 CA5645090	657	A>V	Variant assessed as Somatic; 4.79e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA378110093 rs1589437102	658	V>I		No	ClinGen Ensembl
rs755292801 CA5645086	660	P>A		No	ClinGen ExAC TOPMed gnomAD
CA212865694 rs147282615	660	P>L		No	ClinGen ESP TOPMed
CA5645087 rs755292801	660	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5645084 rs80174740	661	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1168690058 CA378110041	662	L>F		No	ClinGen gnomAD
rs867943525 CA212865659	665	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs760771243 CA5645083	665	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1367098151 CA378109980	666	H>R		No	ClinGen TOPMed gnomAD
rs1420381955 CA378109983	666	H>Y		No	ClinGen gnomAD
CA5645082 rs773314168	667	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378109969 rs773314168	667	R>G		No	ClinGen ExAC gnomAD
rs375606736 CA5645081	667	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1478255784 CA378109959	668	P>A		No	ClinGen gnomAD
CA378109930 rs1205994976	670	C>S		No	ClinGen TOPMed
rs761635760 CA5645080	672	T>A		No	ClinGen ExAC gnomAD
rs1204645763 CA378109844	675	K>N		No	ClinGen gnomAD
rs774245672 CA5645079	676	E>G		No	ClinGen ExAC gnomAD
rs768336434 CA5645078	677	G>A		No	ClinGen ExAC gnomAD
rs1250399496 CA378109832	677	G>R		No	ClinGen gnomAD
rs1236788581 CA378109820	678	P>A		No	ClinGen TOPMed
rs1308714688 CA378109811	678	P>R		No	ClinGen gnomAD
rs749002252 CA5645077	679	G>D		No	ClinGen ExAC gnomAD
rs1453100139 CA378109760	681	M>I		No	ClinGen gnomAD
rs1317078272 CA378109765	681	M>T		No	ClinGen gnomAD
rs769320789 CA5645075	681	M>V		No	ClinGen ExAC TOPMed gnomAD
rs745330458 CA5645074	683	R>G		No	ClinGen ExAC gnomAD
rs914997526 CA212865602	684	S>C		No	ClinGen Ensembl
CA378109719 rs1296649475	684	S>N		No	ClinGen gnomAD
TCGA novel	685	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5645073 rs780543149	686	D>G		No	ClinGen ExAC gnomAD
CA378109693 rs1463760706	686	D>N		No	ClinGen TOPMed gnomAD
rs748596286 CA5645071	688	T>A		No	ClinGen ExAC gnomAD
rs1387556599 CA378109621	691	C>F		No	ClinGen gnomAD
rs148247428 CA5645070	692	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs755238687 CA5645069	696	V>A		No	ClinGen ExAC gnomAD
rs1179350027 CA378109556	696	V>M		No	ClinGen gnomAD
rs1471105943 CA378109521	698	I>F		No	ClinGen TOPMed
CA378109504 rs1397926976	699	E>D		No	ClinGen TOPMed
rs1220994676 CA378109461	702	E>G		No	ClinGen gnomAD
CA378109448 rs183760043	703	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA5645066 rs183760043	703	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs143162557 CA5645067	703	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378109430 rs1334919998	704	D>V		No	ClinGen gnomAD
rs781423946 CA212865529	705	L>S		No	ClinGen Ensembl
rs1374254341 CA378109323	707	M>I		No	ClinGen TOPMed gnomAD
CA5645064 rs768322989	707	M>T		No	ClinGen ExAC TOPMed gnomAD
rs761878773 CA5645063	709	S>N		No	ClinGen ExAC gnomAD
rs1403166363 CA378109265	710	R>G		No	ClinGen gnomAD
CA5645062 rs774146697	711	A>P		No	ClinGen ExAC gnomAD
CA5645061 rs763967395	714	E>V		No	ClinGen ExAC gnomAD
CA5645060 rs762693088	716	N>K		No	ClinGen ExAC gnomAD
CA378109116 rs1323780860	718	M>T		No	ClinGen TOPMed
CA212865492 rs924745234	718	M>V		No	ClinGen gnomAD
CA378109088 rs1199081711	720	E>*		No	ClinGen gnomAD
TCGA novel	720	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5645059 rs774442127	723	Q>R		No	ClinGen ExAC gnomAD
rs1564744515 CA378108993	725	E>K		No	ClinGen Ensembl
CA212865475 rs900512696	727	S>*		No	ClinGen TOPMed
CA378108933 rs1437675475	728	R>T		No	ClinGen TOPMed
TCGA novel	730	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5645057 rs745486404	731	T>A		No	ClinGen ExAC TOPMed gnomAD
rs146303771 CA5645056	732	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748701617 CA5645054	733	E>K		No	ClinGen ExAC TOPMed gnomAD
CA378108835 rs748701617	733	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA5645052 rs755426936	738	C>R		No	ClinGen ExAC gnomAD
rs780546756 CA5645050	739	E>K		No	ClinGen ExAC TOPMed gnomAD
rs137876820 CA5645049	741	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA378108631 rs1403379948	742	I>T		No	ClinGen gnomAD
CA378108636 rs1168870664	742	I>V		No	ClinGen TOPMed
rs750673302 CA5645048	743	E>D		No	ClinGen ExAC gnomAD
rs781393655 CA5645047	744	S>N		No	ClinGen ExAC gnomAD
rs757229993 CA5645046	747	M>V		No	ClinGen ExAC
rs550679455 CA5645045	748	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1302510172 CA378108455	749	L>H		No	ClinGen gnomAD
CA5644958 COSM682521 rs751240225	755	M>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA378131323 rs1182675041	755	M>R		No	ClinGen TOPMed gnomAD
COSM1162896 CA5644957 rs777158639	756	T>M	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5644955 rs374999277	757	L>P		No	ClinGen ESP ExAC gnomAD
rs1019947777 CA212867092	758	L>F		No	ClinGen TOPMed gnomAD
CA378131275 rs1209205696	758	L>R		No	ClinGen TOPMed gnomAD
rs766859844 CA5644954	761	Q>E		No	ClinGen ExAC gnomAD
rs1328671735 CA378131223	762	S>T		No	ClinGen gnomAD
CA378131197 rs1589412293	763	S>*		No	ClinGen Ensembl
rs1351240760 CA378131169	764	S>L		No	ClinGen gnomAD
CA212867089 rs1008106238	764	S>P		No	ClinGen Ensembl
rs1278228820 CA378131140	766	V>A		No	ClinGen TOPMed
CA212867085 rs949529251	767	A>T		No	ClinGen TOPMed
rs761148297 CA5644953	769	S>P		No	ClinGen ExAC TOPMed gnomAD
CA378131099 rs1370377159	770	G>R		No	ClinGen TOPMed gnomAD
CA378131083 rs1244674205	771	S>T		No	ClinGen TOPMed
rs1564728067 CA378131039	774	A>T		No	ClinGen Ensembl
rs762082328 CA5644950	775	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5644949 rs774576630	779	Q>H		No	ClinGen ExAC gnomAD
CA5644947 rs763051869	783	E>G		No	ClinGen ExAC gnomAD
rs768624995 CA5644948	783	E>K		No	ClinGen ExAC TOPMed gnomAD
CA212867051 rs995157098	788	V>A		No	ClinGen TOPMed
CA5644945 rs543282251	789	I>T		No	ClinGen 1000Genomes ExAC
CA378130641 rs1269382502	790	E>G		No	ClinGen gnomAD
CA378130585 rs1170249645	793	L>V		No	ClinGen TOPMed
rs1464323319 CA378130526	796	E>Q		No	ClinGen gnomAD
rs781203499 CA5644943	797	R>G		No	ClinGen ExAC TOPMed gnomAD
rs925567052 CA212867047	797	R>K		No	ClinGen TOPMed
rs979441331 CA212867046	798	D>G		No	ClinGen TOPMed
rs911283780 CA212867043	800	I>M		No	ClinGen TOPMed gnomAD
rs777435616 CA5644940	801	R>Q		No	ClinGen ExAC gnomAD
COSM426918 CA5644941 rs746675281	801	R>W	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA378130414 rs1302652605	803	L>P		No	ClinGen gnomAD
rs1015377728 CA212867032	805	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	806	C>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375519110 CA212867030	806	C>Y		No	ClinGen ESP
CA378130365 rs1434795842	807	I>F		No	ClinGen gnomAD
rs564066593 CA5644938	809	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378130333 rs1231191646	809	R>W		No	ClinGen TOPMed
rs778264717 CA5644937	810	I>V		No	ClinGen ExAC gnomAD
rs373099513 CA5644936	812	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs145218311 CA5644935	814	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5644934 rs767871001	816	Q>*		No	ClinGen ExAC gnomAD
rs1379285982 CA378130224	816	Q>P		No	ClinGen gnomAD
rs111579328 CA212866790	819	V>I		No	ClinGen Ensembl
rs114927649 CA5644913	820	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1564727584 CA378130015	822	I>V		No	ClinGen Ensembl
CA378129989 rs1173471468	823	D>Y		No	ClinGen Ensembl
rs764339114 CA5644911	825	E>Q		No	ClinGen ExAC gnomAD
CA378129920 rs1277479662	827	L>F		No	ClinGen gnomAD
CA378129889 rs1164132211	829	G>*		No	ClinGen TOPMed
rs200386212 CA5644909	831	M>I		No	ClinGen ExAC TOPMed gnomAD
CA5644910 rs17854134	831	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378129859 rs1196732319	831	M>V		No	ClinGen gnomAD
rs144724493 CA5644908	832	Q>K		No	ClinGen ESP ExAC gnomAD
rs1589411576 CA378129780	833	M>I		No	ClinGen Ensembl
CA5644907 rs372135349	833	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1416016700 CA378129765	834	V>A		No	ClinGen gnomAD
CA378129771 rs1293308605	834	V>L		No	ClinGen gnomAD
TCGA novel	838	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378129651 rs1309826283	841	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA378129635 rs1282723431	842	L>F		No	ClinGen TOPMed
rs1410288107 CA378129616	844	A>G		No	ClinGen gnomAD
rs1410288107 CA378129614	844	A>V		No	ClinGen gnomAD
rs1389696889 CA378129606	845	L>P		No	ClinGen gnomAD
rs773116661 CA5644903	848	S>N		No	ClinGen ExAC gnomAD
rs527395031 CA5644902	849	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs527395031 CA5644901	849	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA378129542 rs1181547345	850	A>T		No	ClinGen gnomAD
TCGA novel	851	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378127393 rs1207664400	854	V>M		No	ClinGen TOPMed gnomAD
CA378127296 rs1261310405	858	H>Y		No	ClinGen TOPMed
rs151092896 CA5644885	859	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs766553875 CA5644886	859	R>W		No	ClinGen ExAC gnomAD
CA5644883 rs767356651	865	T>K		No	ClinGen ExAC gnomAD
CA378127123 CA378127121 rs1319684174	866	Y>*		No	ClinGen TOPMed gnomAD
CA378127128 rs1473689030	866	Y>C		No	ClinGen TOPMed
CA5644880 rs768334986	866	Y>H		No	ClinGen ExAC gnomAD
CA5644879 rs545392332	867	K>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	871	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378126996 COSM1345257 rs1370412286	873	H>R	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1159840724 CA378126998	873	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1414032979 CA378126982	874	D>H		No	ClinGen gnomAD
rs1160770326 CA378126950	875	E>D		No	ClinGen TOPMed
rs769123518 CA5644876	877	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1403212473 CA378126930	877	I>V		No	ClinGen TOPMed
CA5644875 rs116707029	878	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs983954153 CA212863987	880	L>P		No	ClinGen Ensembl
CA5644872 rs748564161	881	E>D		No	ClinGen ExAC gnomAD
CA5644873 rs772520458	881	E>G		No	ClinGen ExAC gnomAD
CA378126894 rs1187083008	881	E>Q		No	ClinGen gnomAD
rs558875358 CA5644871	882	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378126884 rs1279304085	882	I>M		No	ClinGen TOPMed
TCGA novel	884	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5644869 rs61751504	884	E>K		No	ClinGen ExAC gnomAD
rs1589406048 CA378126867	885	K>E		No	ClinGen Ensembl
CA212863966 rs1004300641	885	K>N		No	ClinGen TOPMed
CA212863977 rs879923577	885	K>R		No	ClinGen Ensembl
CA378126850 rs1348536515	887	E>G		No	ClinGen gnomAD
rs1236356916 CA378126853	887	E>K		No	ClinGen gnomAD
rs200377709 CA212863962	888	K>T		No	ClinGen Ensembl
CA5644868 rs780285108	889	I>N		No	ClinGen ExAC gnomAD
rs1281463665 CA378126833	890	Q>E		No	ClinGen TOPMed
CA5644867 rs756088369	891	K>E		No	ClinGen ExAC gnomAD
rs750394063 CA5644866	891	K>R		No	ClinGen ExAC gnomAD
CA5644865 rs144607305	892	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs761776283 CA5644864	894	Q>H		No	ClinGen ExAC gnomAD
CA378126788 rs751401856	896	S>F		No	ClinGen ExAC TOPMed gnomAD
rs747202868 CA212863949	896	S>T		No	ClinGen Ensembl
CA5644863 rs751401856	896	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA5644862 rs140760592	897	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	899	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378126051 rs1392575110	902	S>N		No	ClinGen Ensembl
CA378126048 rs1589405016	902	S>R		No	ClinGen Ensembl
TCGA novel	903	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749628927 CA5644831	903	L>Q		No	ClinGen ExAC gnomAD
rs1166690435 CA378126015	905	N>S		No	ClinGen gnomAD
CA5644829 rs114945970	906	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5644827 rs781192000	907	W>R		No	ClinGen ExAC gnomAD
rs765546067 CA5644785	908	G>V		No	ClinGen ExAC TOPMed gnomAD
CA5644784 rs759908369	910	T>I		No	ClinGen ExAC gnomAD
CA212863238 rs949809335	912	Y>F		No	ClinGen TOPMed
TCGA novel	912	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
VAR_050957 rs7919507 CA5644782	914	N>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760874586 CA5644781	916	G>D		No	ClinGen ExAC TOPMed gnomAD
CA212863232 rs973004914	916	G>S		No	ClinGen Ensembl
CA5644778 rs372782551	921	K>I		No	ClinGen ESP ExAC gnomAD
rs1436602245 CA378125701	922	P>R		No	ClinGen gnomAD
TCGA novel	923	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5644777 rs534588616	924	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA5644776 rs778860228	925	R>K		No	ClinGen ExAC gnomAD
CA378125640 rs1248043105	927	M>I		No	ClinGen gnomAD
rs768367286 CA5644775	928	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749146123 CA5644774	928	R>H		No	ClinGen ExAC gnomAD
rs1230903866 CA378125601	930	P>A		No	ClinGen gnomAD
rs369385443 CA5644773	930	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5644771 rs777249738	931	L>M		No	ClinGen ExAC gnomAD
CA5644770 rs201346557	932	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201666151 CA378125517	934	M>I		No	ClinGen gnomAD
TCGA novel	934	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212863197 rs961627979	940	T>I		No	ClinGen Ensembl
TCGA novel	943	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378125397 rs1257038223	943	S>Y		No	ClinGen TOPMed gnomAD
CA5644766 rs765817784	944	H>Y		No	ClinGen ExAC gnomAD
CA5644765 rs759941630	945	P>L		No	ClinGen ExAC gnomAD
rs1234245015 CA378125326	948	V>L		No	ClinGen TOPMed gnomAD
rs754261790 CA5644764	949	P>L		No	ClinGen ExAC gnomAD
rs567897297 CA5644763	952	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5644761 rs773366655	953	A>V		No	ClinGen ExAC gnomAD
rs752522080 CA378125190	956	A>E		No	ClinGen ExAC TOPMed gnomAD
rs752522080 CA5644759	956	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs375164133 CA5644757	958	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs749165171 CA5644756	960	I>V		No	ClinGen ExAC gnomAD
rs866355850 CA212863172	961	N>D		No	ClinGen Ensembl
rs1348435648 CA378125079	961	N>I		No	ClinGen gnomAD
rs769641712 CA5644754	962	V>I		No	ClinGen ExAC gnomAD
rs1018932609 CA212863164	963	N>D		No	ClinGen TOPMed gnomAD
rs780955734 CA5644752	963	N>K		No	ClinGen ExAC gnomAD
rs745525587 CA5644753	963	N>S		No	ClinGen ExAC gnomAD
rs987499924 CA212863151	964	I>V		No	ClinGen TOPMed gnomAD
rs756833299 CA5644751	966	E>V		No	ClinGen ExAC gnomAD
TCGA novel	968	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5644749 rs141749735	969	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs950844277 CA212863139	970	R>G		No	ClinGen TOPMed
rs755577741 CA5644748	970	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754278120 CA5644747	974	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5644710 rs778370574	975	L>F		No	ClinGen ExAC TOPMed gnomAD
CA378123968 rs1485974449	975	L>R		No	ClinGen TOPMed gnomAD
rs1202193755 CA378123961	976	K>E		No	ClinGen gnomAD
rs1309484363 CA378123947	976	K>R		No	ClinGen gnomAD
CA212862336 rs148056361	978	R>C		No	ClinGen ESP TOPMed gnomAD
CA5644706 rs377176374	978	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5644707 rs377176374	978	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs556027701 CA5644705	980	G>R		No	ClinGen ExAC gnomAD
CA378123774 rs1444897424	981	D>E		No	ClinGen gnomAD
CA5644703 rs758673804	981	D>G		No	ClinGen ExAC gnomAD
CA5644704 rs777815893	981	D>N		No	ClinGen ExAC gnomAD
CA378123778 rs758673804	981	D>V		No	ClinGen ExAC gnomAD
CA5644702 rs752885394	982	E>D		No	ClinGen ExAC gnomAD
CA5644699 rs759554526	984	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5644698 rs753661989	984	S>N		No	ClinGen ExAC
rs760348827 CA5644696	986	M>T		No	ClinGen ExAC gnomAD
rs766219847 CA5644697	986	M>V		No	ClinGen ExAC gnomAD
rs1424261292 CA378123550	989	I>T		No	ClinGen gnomAD
rs1407257404 CA378123436	993	N>T		No	ClinGen gnomAD
CA5644694 rs771759598	994	I>L		No	ClinGen ExAC gnomAD
rs765516387 CA378123382	995	H>N		No	ClinGen ExAC TOPMed gnomAD
CA5644693 rs765516387	995	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs907742150 CA212862299	1002	N>S		No	ClinGen TOPMed gnomAD
rs907742150 CA378123166	1002	N>T		No	ClinGen TOPMed gnomAD
CA5644692 rs768083881	1003	R>*		No	ClinGen ExAC TOPMed gnomAD
rs746395739 CA5644690	1003	R>Q		No	ClinGen ExAC gnomAD
CA212862286 rs1013596632	1005	S>G		No	ClinGen TOPMed
CA378123063 rs1305543562	1005	S>R		No	ClinGen gnomAD
COSM913848 rs1225808678 CA378122928	1010	H>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5644689 rs375098371	1013	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1325685267 CA378122869	1014	F>C		No	ClinGen gnomAD
CA378122861 rs1564722214	1015	A>S		No	ClinGen Ensembl
rs1397094331 CA378122690	1018	I>K		No	ClinGen gnomAD
CA378122687 rs1382534256	1018	I>M		No	ClinGen gnomAD
CA378122686 rs1199786856	1019	K>E		No	ClinGen gnomAD
CA378122662 rs1164826642	1022	V>I		No	ClinGen gnomAD
CA378122654 rs1428174106	1023	F>V		No	ClinGen TOPMed gnomAD
TCGA novel	1024	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1259662245 CA378122637	1025	E>A		No	ClinGen gnomAD
rs866401862 CA212861696	1027	E>V		No	ClinGen Ensembl
rs1280318737 CA378122596	1030	F>L		No	ClinGen TOPMed gnomAD
rs756073047 COSM913847 CA5644658	1031	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5644657 rs750307794	1031	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA378122587 rs374464683 CA5644654	1032	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs201559079 CA5644655	1032	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs767310244 CA5644656	1032	M>V		No	ClinGen ExAC
CA378122582 rs1484449479	1033	Q>R		No	ClinGen TOPMed
TCGA novel	1034	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1257376715 CA378122573	1034	E>V		No	ClinGen TOPMed
rs1157614499 CA378122561	1036	L>*		No	ClinGen TOPMed
CA378122563 rs1425923853	1036	L>M		No	ClinGen TOPMed
TCGA novel	1039	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5644653 rs763772923	1040	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM913846 rs1341019017 CA378122507	1042	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA5644651 rs774932499	1042	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5644650 rs764742137 COSM913844	1044	L>P	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs773806966 CA5644648	1045	S>A		No	ClinGen ExAC gnomAD
rs373183537 CA5644647	1045	S>C		No	ClinGen ExAC TOPMed gnomAD
CA378122456 rs1397539600	1046	L>V		No	ClinGen TOPMed
CA5644646 rs748565849	1047	Y>H		No	ClinGen ExAC
CA5644645 rs748732699	1048	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5644644 rs768817001	1048	L>H		No	ClinGen ExAC gnomAD
CA212861639 rs942246656	1049	Q>*		No	ClinGen Ensembl
rs749520309 CA5644642	1050	H>Q		No	ClinGen ExAC gnomAD
rs1352846003 CA378122368	1051	I>N		No	ClinGen TOPMed
TCGA novel	1051	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756160928 CA5644640	1052	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5644641 rs115117818	1052	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378120160 rs1286700690	1053	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5644620 rs368593342	1055	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5644618 rs745984879	1056	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs781225310 CA378120129	1058	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5644617 rs781225310	1058	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs201560226 CA5644616	1059	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1378878806 CA378120061	1064	S>G		No	ClinGen TOPMed
CA5644615 rs746884966	1064	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA378120037 CA5644613 rs758168093	1065	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA378120043 rs1382759036	1065	M>T		No	ClinGen TOPMed
rs777446222 CA5644614	1065	M>V		No	ClinGen ExAC TOPMed gnomAD
rs752323952 CA5644612	1066	W>C		No	ClinGen ExAC
TCGA novel	1067	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365841054 CA378119996	1068	V>G		No	ClinGen gnomAD
rs1469081412 CA378120005	1068	V>M		No	ClinGen gnomAD
CA212855243 rs969610012	1069	C>R		No	ClinGen Ensembl
CA5644611 rs778668152	1069	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs754657449 CA378119982	1070	M>L		No	ClinGen ExAC gnomAD
CA5644609 rs138530279	1070	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754657449 CA5644610	1070	M>V		No	ClinGen ExAC gnomAD
CA378119961 rs1398027594	1071	E>G		No	ClinGen TOPMed
CA5644608 rs765980582	1072	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1073	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762413097 CA5644607	1074	H>R		No	ClinGen ExAC gnomAD
CA5644605 rs184810563	1075	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs752053758 CA5644606	1075	R>W		No	ClinGen ExAC TOPMed gnomAD
rs944584217 CA212855194	1080	F>L		No	ClinGen TOPMed
rs1166848710 CA378119821	1082	R>S		No	ClinGen gnomAD
CA5644603 rs775683097	1083	V>M		No	ClinGen ExAC gnomAD
CA5644602 rs770100956 COSM1602853	1085	R>C	Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs759738167 CA5644601	1085	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776699426 CA5644600	1086	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1564717478 CA378119770	1087	I>V		No	ClinGen Ensembl
CA378119760 rs1431974858	1088	S>G		No	ClinGen TOPMed
rs1031009202 CA212855176	1089	D>A		No	ClinGen gnomAD
CA378119735 rs1159623229	1090	Q>K		No	ClinGen gnomAD
CA378119717 rs1175914229	1091	L>F		No	ClinGen TOPMed
rs1467682860 CA378119683	1093	T>I		No	ClinGen TOPMed
rs1467682860 CA378119687	1093	T>K		No	ClinGen TOPMed
CA5644598 rs746974324	1095	F>S		No	ClinGen ExAC TOPMed gnomAD
rs759770700 CA5644583	1097	E>G		No	ClinGen ExAC gnomAD
CA378119461 rs776789328	1098	R>G		No	ClinGen ExAC TOPMed
rs776789328 CA5644582	1098	R>W		No	ClinGen ExAC TOPMed
CA5644580 rs760784446	1099	T>I		No	ClinGen ExAC gnomAD
CA378119448 rs1264733718	1100	E>K		No	ClinGen TOPMed gnomAD
CA5644578 rs35881299	1101	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM913843 rs773144471 CA5644579	1101	R>W	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs201493282 CA5644577	1103	V>F		No	ClinGen ExAC gnomAD
rs201493282 CA212853922	1103	V>I		No	ClinGen ExAC gnomAD
rs755793053 CA5644573	1104	I>F		No	ClinGen ExAC gnomAD
rs755793053 CA5644572	1104	I>L		No	ClinGen ExAC gnomAD
CA378119427 rs1272608773	1104	I>T		No	ClinGen gnomAD
CA378119417 rs1212855537	1106	P>A		No	ClinGen gnomAD
rs1213715073 CA378119414	1106	P>R		No	ClinGen TOPMed
CA5644567 rs755299473 CA5644566	1107	L>F		No	ClinGen ExAC
rs1233150023 CA378119392	1109	Q>H		No	ClinGen gnomAD
rs1354181220 CA378119387	1110	L>S		No	ClinGen gnomAD
rs372424226 CA5644565	1112	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs766637924 CA378119374	1112	S>R		No	ClinGen ExAC TOPMed gnomAD
CA212853857 rs536472213	1113	M>T		No	ClinGen Ensembl
rs942585273 CA212853856	1117	P>L		No	ClinGen Ensembl
CA378119336 rs1327712438	1118	H>R		No	ClinGen TOPMed gnomAD
CA212853855 rs868672395	1118	H>Y		No	ClinGen Ensembl
rs773409433 CA5644562	1119	K>Q		No	ClinGen ExAC gnomAD
CA378119316 rs1182966811	1121	V>A		No	ClinGen TOPMed
CA378119315 rs1182966811	1121	V>G		No	ClinGen TOPMed
CA5644560 rs569494608	1124	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1474832061 CA378119296 COSM215405	1124	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5644558 rs774105818	1126	D>N		No	ClinGen ExAC gnomAD
CA378119262 rs1425111814	1129	L>R		No	ClinGen TOPMed
rs768602772 CA5644557	1130	D>A		No	ClinGen ExAC gnomAD
CA5644556 rs749135239	1131	F>S		No	ClinGen ExAC gnomAD
rs929643367 CA212853806	1131	F>V		No	ClinGen TOPMed gnomAD
CA5644555 rs775399542	1132	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	1132	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378119245 rs1276551277	1132	Y>H		No	ClinGen TOPMed gnomAD
rs769625234 CA5644554	1133	N>D		No	ClinGen ExAC TOPMed gnomAD
rs1564716207 CA378119227	1134	C>Y		No	ClinGen Ensembl
rs1315496322 CA378119219	1135	T>I		No	ClinGen gnomAD
rs116296676 CA5644552	1137	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5644553 rs140571647	1137	R>W		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA5644548 rs779439841	1143	D>E		No	ClinGen ExAC gnomAD
CA5644549 rs199654258	1143	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378119144 rs1381963444	1144	K>E		No	ClinGen TOPMed
rs755456574 CA5644547	1145	K>Q		No	ClinGen ExAC gnomAD
CA5644546 rs754259683	1145	K>T		No	ClinGen ExAC TOPMed gnomAD
rs766727741 CA5644545	1146	T>I		No	ClinGen ExAC TOPMed
CA378119091 rs1317764512	1147	L>R		No	ClinGen TOPMed
TCGA novel	1148	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1166767576 CA378119085	1148	E>K		No	ClinGen gnomAD
rs1424357477 CA378119051	1149	E>A		No	ClinGen gnomAD
CA212853755 rs140670564	1151	Q>H		No	ClinGen ESP TOPMed gnomAD
rs756365440 CA5644544	1151	Q>L		No	ClinGen ExAC gnomAD
rs368368077 CA5644543	1152	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1441778452 CA378119013	1152	S>P		No	ClinGen gnomAD
CA5644540 rs547189728 COSM70504	1154	R>Q	ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs761756214 CA5644541	1154	R>W		No	ClinGen ExAC gnomAD
CA378118923 rs1484163859	1155	N>S		No	ClinGen TOPMed
rs1222870113 CA378118908	1156	N>D		No	ClinGen gnomAD
TCGA novel	1156	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147671401 CA212853741	1156	N>S		No	ClinGen ESP TOPMed gnomAD
rs147671401 CA378118902	1156	N>T		No	ClinGen ESP TOPMed gnomAD
CA5644539 rs202021702	1157	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1327582784 CA378118589	1166	D>Y	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA378118571 rs1364825094	1167	E>K		No	ClinGen gnomAD
rs762969287 CA5644538	1169	P>S		No	ClinGen ExAC gnomAD
rs1458337976 CA378118468	1170	K>M		No	ClinGen TOPMed gnomAD
rs1458337976 CA378118476	1170	K>R		No	ClinGen TOPMed gnomAD
rs367611348 CA5644535	1173	Q>P		No	ClinGen ESP ExAC gnomAD
CA5644536 rs367611348	1173	Q>R		No	ClinGen ESP ExAC gnomAD
rs770587503 CA5644533	1175	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378118265 rs1431664786	1177	G>D		No	ClinGen gnomAD
rs746550086 CA5644532	1178	L>F		No	ClinGen ExAC gnomAD
rs1191901800 CA378118211	1181	N>H		No	ClinGen gnomAD
rs777256059 CA5644531	1181	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1033258812 CA212853716	1181	N>S		No	ClinGen gnomAD
CA5644530 rs769222468	1182	C>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1182	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749730790 CA5644529	1183	V>I		No	ClinGen ExAC gnomAD
rs1394886826 CA378118155	1184	H>R		No	ClinGen gnomAD
CA378118142 rs756382284	1185	G>R		No	ClinGen ExAC TOPMed gnomAD
rs756382284 CA5644527	1185	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5644526 rs750686543	1186	Y>C		No	ClinGen ExAC gnomAD
CA5644525 rs781306555	1188	E>K		No	ClinGen ExAC gnomAD
CA378118085 rs757474777	1189	A>S		No	ClinGen ExAC gnomAD
rs757474777 CA5644524	1189	A>T		No	ClinGen ExAC gnomAD
rs751747330 CA5644523	1190	H>R		No	ClinGen ExAC gnomAD
CA378118071 rs1590211183	1191	C>R		No	ClinGen Ensembl
rs764264237 CA5644522	1191	C>Y		No	ClinGen ExAC gnomAD
rs762986951 CA5644521	1193	F>C		No	ClinGen ExAC gnomAD
CA5644519 rs765112424	1194	V>A		No	ClinGen ExAC gnomAD
rs373668303 CA5644520	1194	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1176842171 CA378117983	1195	H>Q		No	ClinGen TOPMed gnomAD
COSM913841 rs201700100 CA212853619	1196	Q>R	endometrium [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1428046055 CA378117954	1197	A>V		No	ClinGen TOPMed gnomAD
rs759290088 CA5644518	1199	E>K		No	ClinGen ExAC gnomAD
CA378117908 rs769468556	1200	Q>H		No	ClinGen TOPMed gnomAD
CA378117854 rs1257180378	1203	P>L		No	ClinGen gnomAD
rs1199170405 CA378117836	1205	L>F		No	ClinGen gnomAD
COSM1345252 rs770552124 CA5644516	1206	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA378117825 rs1232213910	1206	S>P		No	ClinGen TOPMed
rs1369356345 CA378117656	1210	V>M		No	ClinGen gnomAD
rs761350540 CA5644486	1211	A>S		No	ClinGen ExAC gnomAD
rs1438691884 CA378117590	1214	E>G		No	ClinGen gnomAD
rs773885717 CA5644485	1216	N>D		No	ClinGen ExAC gnomAD
rs770257960 CA5644484 COSM1638123	1216	N>S	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA212853346 rs547145893	1217	L>R		No	ClinGen Ensembl
TCGA novel	1219	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212853345 rs1046446713	1219	A>V		No	ClinGen gnomAD
rs1013249101 CA212853318	1220	I>T		No	ClinGen Ensembl
rs199917003 CA5644481	1220	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1182982489 CA378117497	1222	H>Y		No	ClinGen TOPMed
rs374602494 CA5644480	1223	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5644479 rs758671756	1226	S>C		No	ClinGen ExAC gnomAD
rs758671756 CA5644478	1226	S>G		No	ClinGen ExAC gnomAD
CA5644477 rs748296225	1227	R>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1228	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1466344771 CA378117445	1230	Q>K		No	ClinGen TOPMed
rs370425761 CA212853288	1231	Q>R		No	ClinGen Ensembl
CA5644474 rs753754960	1232	L>F		No	ClinGen ExAC gnomAD
CA378117425 rs1392169105	1233	Q>E		No	ClinGen gnomAD
rs1590210713 CA378117416	1234	V>I		No	ClinGen Ensembl
CA378117401 rs1590210710	1236	T>P		No	ClinGen Ensembl
rs1418305952 CA378117394	1237	F>V		No	ClinGen gnomAD
CA212853266 rs761287000	1238	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1238	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5644469 rs761437921	1239	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1439921263 CA378117379	1239	P>S		No	ClinGen gnomAD
CA212853249 rs1043339124	1240	E>A		No	ClinGen TOPMed gnomAD
CA5644468 rs773799298	1240	E>K		No	ClinGen ExAC gnomAD
rs763592355 CA5644467	1241	S>F		No	ClinGen ExAC gnomAD
rs1441937584 CA378117370	1241	S>T		No	ClinGen gnomAD
CA5644466 rs144751467	1242	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5644465 rs144751467	1242	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs114992827 CA5644463	1244	A>P		No	ClinGen 1000Genomes ExAC gnomAD
rs114992827 CA5644464	1244	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA378117355 rs114992827	1244	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA378117352 rs1241074257	1244	A>V		No	ClinGen gnomAD
CA5644462 rs773700324	1245	T>I		No	ClinGen ExAC TOPMed gnomAD
CA378117342 rs1590210653	1246	K>R		No	ClinGen Ensembl
rs772489564 CA5644461	1248	P>L		No	ClinGen ExAC gnomAD
rs772489564 CA378117319	1248	P>R		No	ClinGen ExAC gnomAD
rs778876027 CA5644459	1250	E>D		No	ClinGen ExAC
CA378117286 rs1211752728	1250	E>G		No	ClinGen gnomAD
CA378117279 rs1276815410	1251	R>G		No	ClinGen TOPMed
CA378117239 rs913236673	1253	T>I		No	ClinGen TOPMed gnomAD
CA378117249 rs1332155357	1253	T>P		No	ClinGen gnomAD
CA212853223 rs913236673	1253	T>S		No	ClinGen TOPMed gnomAD
CA378117234 rs965400801	1254	I>F		No	ClinGen TOPMed gnomAD
CA212853217 rs965400801	1254	I>V		No	ClinGen TOPMed gnomAD
CA212853212 rs530868346	1255	D>A		No	ClinGen 1000Genomes
rs1299200147 CA378117199	1256	R>C		No	ClinGen gnomAD
rs115690771 CA5644457	1256	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA378117185 rs1448740884	1257	Q>H		No	ClinGen TOPMed
CA212853195 rs868620072	1259	A>S		No	ClinGen Ensembl
CA378117163 rs1170276765	1260	R>*		No	ClinGen gnomAD
CA378117165 rs1170276765	1260	R>G		No	ClinGen gnomAD
rs756020892 COSM1204289 CA5644455	1260	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA378117133 rs1377732716	1262	P>S		No	ClinGen gnomAD
CA378117090 rs1265045207	1265	G>D		No	ClinGen gnomAD
rs1286336259 CA378115625	1267	P>T		No	ClinGen gnomAD
rs373600848 CA5644438	1269	Y>*		No	ClinGen ESP ExAC gnomAD
rs1330058826 CA378115555	1270	M>I		No	ClinGen gnomAD
rs1383162271 CA378115564	1270	M>V		No	ClinGen TOPMed gnomAD
rs1234309428 CA378115535	1272	Q>*		No	ClinGen TOPMed
rs200569120 CA5644437	1272	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs200569120 CA378115533	1272	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA378115502 rs1401868412	1275	E>K		No	ClinGen TOPMed gnomAD
rs1401868412 CA378115500	1275	E>Q		No	ClinGen TOPMed gnomAD
CA5644434 rs780977934	1277	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM280551 rs745738512 CA5644435	1277	R>W	large_intestine Variant assessed as Somatic; 9.241e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs370574450 CA5644433	1278	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1279334732 CA378115455	1279	S>P		No	ClinGen TOPMed
CA5644431 rs777532425	1281	L>M		No	ClinGen ExAC gnomAD
COSM1320809 rs1459115509 CA378115371	1284	Y>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA378115379 rs1385499179	1284	Y>H		No	ClinGen TOPMed
rs752318460 CA5644429	1285	P>H		No	ClinGen ExAC gnomAD
rs1320502422 CA378115338	1286	P>R		No	ClinGen TOPMed gnomAD
CA212852464 rs866750696	1286	P>S		No	ClinGen Ensembl
CA378115289 rs1292469355	1289	L>R		No	ClinGen gnomAD
rs1421859585 CA378115296	1289	L>V		No	ClinGen TOPMed gnomAD
rs750916384 CA5644426	1291	Q>*		No	ClinGen ExAC gnomAD
CA5644425 rs146259512	1292	A>P		No	ClinGen ESP ExAC TOPMed
CA5644424 rs377597240	1294	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA378115214 rs1444160520 COSM682524	1294	R>Q	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs377597240 CA5644423	1294	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs116046885 CA378115157	1297	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5644422 rs116046885	1297	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1298261431 CA378115147	1298	A>P		No	ClinGen gnomAD
rs763077330 CA5644421	1298	A>V		No	ClinGen ExAC gnomAD
rs562309760 CA212852447	1299	A>G		No	ClinGen Ensembl
CA378115136 rs1399155444	1299	A>T		No	ClinGen TOPMed gnomAD
CA212852446 rs944404890	1300	Q>*		No	ClinGen TOPMed gnomAD
CA5644419 rs567734686	1302	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378115086 rs567734686	1302	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5644418 rs769805859	1303	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA378115058 rs1157013138	1304	V>I		No	ClinGen TOPMed gnomAD
rs373053661 CA212852438	1305	S>L		No	ClinGen ESP TOPMed gnomAD
CA378115003 rs1180754811	1307	L>S		No	ClinGen TOPMed
rs1251320379 CA378114992	1308	E>K		No	ClinGen gnomAD
rs1364335197 CA378114970	1309	G>S		No	ClinGen TOPMed
CA378114937 rs1190756415	1310	D>E		No	ClinGen gnomAD
rs781065611 CA5644416	1312	V>G		No	ClinGen ExAC gnomAD
CA378114916 rs1564714577	1312	V>L		No	ClinGen Ensembl
CA5644415 rs770740557	1314	V>L		No	ClinGen ExAC gnomAD
CA378114884 rs770740557	1314	V>M		No	ClinGen ExAC gnomAD
rs777426720 CA5644413	1317	K>I		No	ClinGen ExAC gnomAD
rs1590209442 CA378114762	1319	D>A		No	ClinGen Ensembl
CA378114730 rs1170719003	1320	P>L		No	ClinGen TOPMed
rs1314334072 CA378114713	1321	M>I		No	ClinGen TOPMed
rs953090797 CA212852423	1321	M>T		No	ClinGen TOPMed gnomAD
rs1284325263 CA378114726	1321	M>V		No	ClinGen TOPMed gnomAD
rs747749677 CA5644411	1324	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	1324	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5644410 rs138512003	1326	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5644409 rs376611193	1326	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs753371257 CA5644408	1327	W>*		No	ClinGen ExAC TOPMed gnomAD
CA5644407 rs768115422	1329	I>L		No	ClinGen ExAC gnomAD
CA378114541 rs1359599271	1329	I>T		No	ClinGen gnomAD
CA5644406 rs757689446	1331	N>S		No	ClinGen ExAC gnomAD
rs1353047809 CA595453754	1334	T>L*		No	ClinGen gnomAD
CA378112010 rs1264456148	1334	T>S		No	ClinGen gnomAD
rs754657865 CA5644386	1335	K>R		No	ClinGen ExAC gnomAD
CA5644385 rs569455301	1336	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378111966 rs569455301	1336	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378111936 rs1288644727	1338	V>A		No	ClinGen gnomAD
CA5644383 rs201709353	1338	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1444070757 CA378111881	1340	S>R		No	ClinGen TOPMed
rs946191245 CA212850429	1346	Y>C		No	ClinGen TOPMed gnomAD
CA378111780 rs946191245	1346	Y>S		No	ClinGen TOPMed gnomAD
CA378111767 rs1465211207	1347	N>D		No	ClinGen gnomAD
rs543958442 CA5644381	1347	N>S		No	ClinGen ExAC TOPMed gnomAD
rs758722155 CA5644380	1348	P>R		No	ClinGen ExAC TOPMed gnomAD
CA378111734 rs1564712734	1348	P>S		No	ClinGen Ensembl
CA212850408 rs372427020	1349	R>C		No	ClinGen ExAC TOPMed gnomAD
rs372427020 CA5644379	1349	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5644378 rs765491657	1349	R>H		No	ClinGen ExAC TOPMed gnomAD
rs759752077 CA5644377	1350	R>C		No	ClinGen ExAC TOPMed gnomAD
rs368470695 CA5644376	1350	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368470695 CA378111672	1350	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1350	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1183852339 CA378111665	1351	S>G		No	ClinGen gnomAD
CA378111629 rs1197233331	1352	H>P		No	ClinGen TOPMed
CA5644375 rs766312999	1353	S>C		No	ClinGen ExAC TOPMed gnomAD
COSM913839 CA5644373 rs772987204	1354	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs748008075 CA5644371	1356	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1590206688 CA378111521	1356	S>P		No	ClinGen Ensembl
CA378111479 rs1590206670	1357	V>G		No	ClinGen Ensembl
CA378111494 rs768486959	1357	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5644369 rs768486959	1357	V>M		No	ClinGen ExAC TOPMed gnomAD
CA212850387 rs979136741	1358	G>S		No	ClinGen TOPMed
CA5644368 rs748878693	1358	G>V		No	ClinGen ExAC gnomAD
CA378111450 rs1321358031	1359	S>G		No	ClinGen TOPMed
CA5644367 rs779626413	1361	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5644364 rs571757457	1364	E>K		No	ClinGen 1000Genomes
CA378111234 rs1392478255	1365	S>F		No	ClinGen TOPMed gnomAD
CA5644362 rs778181118	1366	E>K		No	ClinGen ExAC TOPMed gnomAD
rs753128227 CA5644360	1367	H>D		No	ClinGen ExAC gnomAD
rs369418420 CA5644359	1367	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs753128227 CA378111156	1367	H>Y		No	ClinGen ExAC gnomAD
rs1438713707 CA378111129	1368	G>S		No	ClinGen gnomAD
CA378111084 rs753959444	1369	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5644356 rs766514590	1370	S>A		No	ClinGen ExAC gnomAD
rs760713393 CA5644355	1370	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1225432452 CA378111006	1372	P>L		No	ClinGen TOPMed
rs767623794 CA5644352	1373	R>K		No	ClinGen ExAC gnomAD
CA378110979 rs1292233029	1373	R>S		No	ClinGen gnomAD
CA378110968 rs1590206546	1374	F>S		No	ClinGen Ensembl
rs1590206556 CA378110971	1374	F>V		No	ClinGen Ensembl
CA5644351 rs375209058	1376	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA378110931 rs375209058	1376	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5644350 rs372003127	1376	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA378110899 rs372003127	1376	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs768503322 CA5644349	1377	Q>*		No	ClinGen ExAC gnomAD
CA5644348 rs762713219	1377	Q>H		No	ClinGen ExAC gnomAD
CA212850270 rs1014447304	1377	Q>R		No	ClinGen TOPMed gnomAD
CA5644347 rs148004684	1380	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1590206502 CA378110779	1381	S>G		No	ClinGen Ensembl
CA5644345 rs143521367	1382	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1384	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378110663 rs1378135359	1387	P>S		No	ClinGen gnomAD
CA378110611 rs1327682395	1389	S>G		No	ClinGen TOPMed
rs780739840 CA5644344	1390	M>T		No	ClinGen ExAC gnomAD
rs113467991 CA212850260	1390	M>V		No	ClinGen TOPMed
COSM70503 CA5644343 rs772574320	1391	A>T	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs748599489 CA5644342	1392	V>A		No	ClinGen ExAC gnomAD
CA378110537 rs1213114949	1392	V>I		No	ClinGen gnomAD
CA212850242 rs865841648	1393	S>F		No	ClinGen Ensembl
rs1590206444 CA378110497	1395	T>P		No	ClinGen Ensembl
rs148968752 CA5644341	1396	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA378110469 rs1248669785	1396	S>P		No	ClinGen TOPMed
CA378110452 rs1487418305	1397	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	1398	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA212850228 rs367978903	1398	S>P		No	ClinGen ESP
rs946027130 CA212850225	1402	Q>R		No	ClinGen gnomAD
CA378110270 rs1205982212	1405	D>H		No	ClinGen TOPMed gnomAD
CA378110273 rs1205982212	1405	D>N		No	ClinGen TOPMed gnomAD
rs1344322576 CA378110231	1406	A>V		No	ClinGen gnomAD
rs139251700 CA378110208	1408	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1408	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139251700 CA5644339	1408	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs780193965 CA5644338 COSM1204284	1409	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767634047 CA5644335	1411	K>E		No	ClinGen ExAC gnomAD
CA5644333 VAR_024339 rs11190305	1413	C>W		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5644332 rs764010889	1414	D>N		No	ClinGen ExAC gnomAD
CA5644330 rs762694297	1415	Q>*		No	ClinGen ExAC gnomAD
CA212850210 rs896354935	1415	Q>H		No	ClinGen TOPMed gnomAD
CA212850209 rs562734977	1416	G>E		No	ClinGen 1000Genomes
rs1564712414 CA378109986	1419	S>N		No	ClinGen Ensembl
CA378109979 rs1335447415	1419	S>R		No	ClinGen TOPMed
rs1383103543 CA378109935	1422	L>P		No	ClinGen TOPMed
CA5644328 rs113576651	1424	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs113576651 CA378109898	1424	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5644326 rs776018527	1427	S>P		No	ClinGen ExAC TOPMed gnomAD
CA378109748 rs770381886	1430	S>C		No	ClinGen ExAC gnomAD
CA5644325 rs770381886	1430	S>G		No	ClinGen ExAC gnomAD
rs774882402 CA5644323	1431	P>L		No	ClinGen ExAC gnomAD
rs371661794 CA5644322	1434	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1324861964 CA378109627	1435	P>S		No	ClinGen TOPMed gnomAD
rs1257919750 CA378109562	1438	P>T		No	ClinGen TOPMed gnomAD
rs780466144 CA5644320	1439	D>N		No	ClinGen ExAC gnomAD
CA378109523 rs1177001942	1440	S>A		No	ClinGen TOPMed
rs576571467 CA5644319	1440	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA378109490 rs1590206208	1441	T>P		No	ClinGen Ensembl
rs757369348 CA5644316	1442	S>C		No	ClinGen ExAC gnomAD
rs781442017 CA5644317	1442	S>P		No	ClinGen ExAC gnomAD
rs751657437 CA5644315	1445	R>K		No	ClinGen ExAC
CA212850174 rs942374732	1445	R>S		No	ClinGen TOPMed gnomAD
rs1564712251 CA378109363	1447	G>W		No	ClinGen Ensembl
CA378109328 rs1421378725	1448	D>G		No	ClinGen gnomAD
rs764174376 CA5644314	1448	D>N		No	ClinGen ExAC gnomAD
rs1472571659 CA378109279	1450	A>T		No	ClinGen gnomAD
CA378109261 rs1235991239	1451	D>N		No	ClinGen gnomAD
rs1024740674 CA212850163	1452	V>G		No	ClinGen Ensembl
CA378109227 rs1185678260	1452	V>I		No	ClinGen TOPMed gnomAD
CA378109233 rs1185678260	1452	V>L		No	ClinGen TOPMed gnomAD
CA5644312 rs752499875	1456	V>I		No	ClinGen ExAC gnomAD
CA378109024 rs1237642922	1458	Q>L		No	ClinGen gnomAD
CA5644311 rs765026090	1459	P>H		No	ClinGen ExAC gnomAD
rs1309842184 CA378108969	1461	A>T		No	ClinGen gnomAD
rs199767331 CA5644310	1462	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs147752816 CA5644309	1462	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5644306 rs116424120	1463	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378108924 rs116424120	1463	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378108930 rs1470789630	1463	P>S		No	ClinGen TOPMed
CA5644304 rs375427276	1464	R>S		No	ClinGen ESP ExAC gnomAD
rs1309443445 CA378108880	1465	S>G		No	ClinGen gnomAD
rs775726377 CA5644303	1465	S>N		No	ClinGen ExAC gnomAD
CA212850099 rs918763099	1466	Y>S		No	ClinGen TOPMed
COSM373999 rs3740062 CA5644301	1467	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770144097 CA5644302	1467	R>W		No	ClinGen ExAC TOPMed gnomAD
rs781603800 CA5644299	1472	P>S		No	ClinGen ExAC gnomAD
rs866825905 CA212850053	1473	E>K		No	ClinGen Ensembl
CA5644298 rs757529297	1474	I>V		No	ClinGen ExAC gnomAD
rs1379752462 CA378108553	1475	V>F		No	ClinGen TOPMed gnomAD
rs1379752462 CA378108556	1475	V>I		No	ClinGen TOPMed gnomAD
rs1379752462 CA378108554	1475	V>L		No	ClinGen TOPMed gnomAD
rs1564712130 CA378108475	1477	Y>F		No	ClinGen Ensembl
CA5644296 rs140468338	1479	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA378108430 rs140468338	1479	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs758282292 CA5644295	1480	P>L		No	ClinGen ExAC gnomAD
rs1376060624 CA378108386	1481	G>R		No	ClinGen gnomAD
rs752632792 CA5644294	1482	R>*		No	ClinGen ExAC TOPMed gnomAD
rs189412837 CA5644293	1482	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA212849966 rs376306877	1483	N>K		No	ClinGen Ensembl
rs200530625 CA5644292	1483	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5644291 rs151273746 CA378108315	1484	G>R		No	ClinGen ESP ExAC gnomAD
CA5644290 rs766081027	1485	Q>E		No	ClinGen ExAC
CA378108301 rs1307864343	1485	Q>R		No	ClinGen gnomAD
CA378108273 rs1590205974	1487	Q>P		No	ClinGen Ensembl
CA5644288 rs199968530	1490	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1435676753 CA378108154	1495	R>K		No	ClinGen gnomAD
rs766990809 CA5644287	1496	T>I		No	ClinGen ExAC
CA378108122 rs766990809	1496	T>K		No	ClinGen ExAC
CA378108112 rs1462133241	1497	A>P		No	ClinGen TOPMed
CA212849959 rs896270255	1497	A>V		No	ClinGen TOPMed gnomAD
CA378108092 rs1304790318	1498	Q>*		No	ClinGen gnomAD
CA378108075 rs1425530363	1498	Q>H		No	ClinGen gnomAD
rs763388534 CA5644286	1500	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1408815960 CA378107971	1502	D>E		No	ClinGen gnomAD
rs1420917051 CA378107988	1502	D>Y		No	ClinGen gnomAD
CA378107967 rs1564712035	1503	R>G		No	ClinGen Ensembl
rs1191069148 CA378107940	1504	S>T		No	ClinGen gnomAD
CA378107899 rs1347514110	1506	E>D		No	ClinGen TOPMed
rs1212918789 CA378107895	1507	P>T		No	ClinGen TOPMed
CA378107793 rs1223746291	1512	A>T		No	ClinGen gnomAD
CA5644283 rs368613949	1512	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs760025415 CA5644282	1513	E>G		No	ClinGen ExAC TOPMed gnomAD
CA378107759 rs1213248738	1514	G>S		No	ClinGen gnomAD
rs771346293 CA5644280	1515	N>S		No	ClinGen ExAC gnomAD
rs747161596 CA5644279	1516	Q>R		No	ClinGen ExAC gnomAD
rs1016005467 CA212848451	1517	V>I		No	ClinGen gnomAD
rs1016005467 CA378106860	1517	V>L		No	ClinGen gnomAD
CA5644251 rs139264891	1518	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139264891 CA378106852	1518	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5644250 rs779842874	1519	F>Y		No	ClinGen ExAC gnomAD
rs1459537191 CA378106839	1520	A>S		No	ClinGen gnomAD
rs1227529415 CA378106835	1521	V>F		No	ClinGen TOPMed
CA5644248 rs750186179	1523	T>I		No	ClinGen ExAC gnomAD
CA212848432 rs1003148326	1523	T>S		No	ClinGen TOPMed
CA378106811 rs1229405802	1524	F>L		No	ClinGen TOPMed gnomAD
TCGA novel	1524	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1525	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378106799 rs1307886283	1526	A>S		No	ClinGen gnomAD
CA378106801 rs1307886283	1526	A>T		No	ClinGen gnomAD
CA5644247 rs780944366	1527	R>*		No	ClinGen ExAC gnomAD
CA378106795 rs780944366	1527	R>G		No	ClinGen ExAC gnomAD
CA378106792 rs1450724397	1527	R>L		No	ClinGen TOPMed gnomAD
rs1450724397 CA378106793	1527	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1429557091 CA378106745	1534	V>G		No	ClinGen TOPMed
rs377547949 CA5644245	1534	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377547949 CA5644244	1534	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1366782601 CA378106732	1537	N>H		No	ClinGen TOPMed
rs567372526 CA5644242	1537	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766961672 CA5644241	1538	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1396902706 CA378106708	1540	L>F		No	ClinGen TOPMed
CA378106704 rs1318222176	1541	K>E		No	ClinGen TOPMed
TCGA novel	1541	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1318222176 CA378106702	1541	K>Q		No	ClinGen TOPMed
rs780955774 CA5644240	1544	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1054575908 CA212848389	1546	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs773437458 CA5644239	1546	K>N		No	ClinGen ExAC TOPMed gnomAD
CA378106658 rs1442459752	1547	D>G		No	ClinGen gnomAD
CA378106645 rs1386556354	1549	T>R		No	ClinGen gnomAD
CA212848382 rs376216059	1550	G>R		No	ClinGen ESP
rs1183715263 CA378106625	1552	T>R		No	ClinGen gnomAD
rs1590203811 CA378106609	1554	W>*		No	ClinGen Ensembl
CA212848379 rs931771798	1555	W>*		No	ClinGen TOPMed gnomAD
rs1273446635 CA378106594	1556	L>S		No	ClinGen TOPMed
CA378106587 rs1564710686	1557	A>G		No	ClinGen Ensembl
rs767849573 CA5644237	1557	A>T		No	ClinGen ExAC
rs1590203783 CA378106572	1559	V>G		No	ClinGen Ensembl
rs146248860 CA5644234	1560	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1290773466 CA378106568	1560	N>T		No	ClinGen gnomAD
CA5644231 rs775443158	1561	G>E		No	ClinGen ExAC gnomAD
rs749250943 CA5644232	1561	G>R		No	ClinGen ExAC gnomAD
rs749250943 CA5644233	1561	G>W		No	ClinGen ExAC gnomAD
CA5644230 rs769695607	1562	K>E		No	ClinGen ExAC gnomAD
CA5644227 rs756938617 COSM1204287	1566	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5644226 rs746584839	1567	P>S		No	ClinGen ExAC gnomAD
CA5644225 rs777457282	1568	S>C		No	ClinGen ExAC gnomAD
rs758023853 CA212848307	1570	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs758023853 CA5644224	1570	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA212848304 rs915346847	1571	I>M		No	ClinGen gnomAD
rs752233660 CA5644223	1572	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5644222 rs767053417	1572	R>H		No	ClinGen ExAC TOPMed gnomAD
rs139962333 CA5644221	1574	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5644220 rs750807372	1575	E>A		No	ClinGen ExAC gnomAD
rs935172610 CA212848269	1575	E>K		No	ClinGen TOPMed gnomAD
rs1292712041 CA378106334	1577	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD

1 associated diseases with Q6XZF7

[MIM: 618415]: Cataract 48 (CTRCT48)

A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset. {ECO:0000269|PubMed:30290152}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT48 is an autosomal recessive form characterized by infantile or early-childhood onset. {ECO:0000269|PubMed:30290152}. Note=The disease is caused by variants affecting the gene represented in this entry.

13 regional properties for Q6XZF7

Type	Name	Position	InterPro Accession
domain	Dbl homology (DH) domain	784 - 967	IPR000219
conserved_site	Guanine-nucleotide dissociation stimulator, CDC24, conserved site	915 - 940	IPR001331
domain	SH3 domain	2 - 61	IPR001452-1
domain	SH3 domain	66 - 126	IPR001452-2
domain	SH3 domain	145 - 204	IPR001452-3
domain	SH3 domain	243 - 302	IPR001452-4
domain	SH3 domain	1285 - 1348	IPR001452-5
domain	SH3 domain	1513 - 1576	IPR001452-6
domain	BAR domain	996 - 1217	IPR004148
domain	Dynamin-binding protein, first N-terminal SH3 domain	6 - 56	IPR035817
domain	Dynamin-binding protein, second N-terminal SH3 domain	70 - 123	IPR035818
domain	Dynamin-binding protein, third N-terminal SH3 domain	149 - 199	IPR035819
domain	Dynamin-binding protein, first C-terminal SH3 domain	1289 - 1345	IPR035820

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Golgi apparatus, Golgi stack Cytoplasm, cytoskeleton Synapse Cell junction	Localizes to the apical junction, colocalizes with TJP1
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
Golgi stack	The set of thin, flattened membrane-bounded compartments, called cisternae, that form the central portion of the Golgi complex. The stack usually comprises cis, medial, and trans cisternae; the cis- and trans-Golgi networks are not considered part of the stack.
presynapse	The part of a synapse that is part of the presynaptic cell.
synapse	The junction between an axon of one neuron and a dendrite of another neuron, a muscle fiber or a glial cell. As the axon approaches the synapse it enlarges into a specialized structure, the presynaptic terminal bouton, which contains mitochondria and synaptic vesicles. At the tip of the terminal bouton is the presynaptic membrane; facing it, and separated from it by a minute cleft (the synaptic cleft) is a specialized area of membrane on the receiving cell, known as the postsynaptic membrane. In response to the arrival of nerve impulses, the presynaptic terminal bouton secretes molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane.

1 GO annotations of molecular function

Name	Definition
guanyl-nucleotide exchange factor activity	Stimulates the exchange of GDP to GTP on a signaling GTPase, changing its conformation to its active form. Guanine nucleotide exchange factors (GEFs) act by stimulating the release of guanosine diphosphate (GDP) to allow binding of guanosine triphosphate (GTP), which is more abundant in the cell under normal cellular physiological conditions.

4 GO annotations of biological process

Name	Definition
aging	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
regulation of cell shape	Any process that modulates the surface configuration of a cell.
regulation of small GTPase mediated signal transduction	Any process that modulates the frequency, rate or extent of small GTPase mediated signal transduction.

20 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q58DL7	ARHGEF9	Rho guanine nucleotide exchange factor 9	Bos taurus (Bovine)	SS
O77775	NCF2	Neutrophil cytosol factor 2	Bos taurus (Bovine)	PR
O43307	ARHGEF9	Rho guanine nucleotide exchange factor 9	Homo sapiens (Human)	SS
Q70Z35	PREX2	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein	Homo sapiens (Human)	SS
Q9NR80	ARHGEF4	Rho guanine nucleotide exchange factor 4	Homo sapiens (Human)	EV
Q8TCU6	PREX1	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein	Homo sapiens (Human)	EV
Q96N96	SPATA13	Spermatogenesis-associated protein 13	Homo sapiens (Human)	EV
Q5HYK7	SH3D19	SH3 domain-containing protein 19	Homo sapiens (Human)	PR
Q86UR1	NOXA1	NADPH oxidase activator 1	Homo sapiens (Human)	EV
P19878	NCF2	Neutrophil cytosol factor 2	Homo sapiens (Human)	PR
A1IGU5	ARHGEF37	Rho guanine nucleotide exchange factor 37	Homo sapiens (Human)	PR
Q5DU57	Spata13	Spermatogenesis-associated protein 13	Mus musculus (Mouse)	SS
Q3LAC4	Prex2	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 2 protein	Mus musculus (Mouse)	SS
Q7TNR9	Arhgef4	Rho guanine nucleotide exchange factor 4	Mus musculus (Mouse)	EV
Q69ZK0	Prex1	Phosphatidylinositol 3,4,5-trisphosphate-dependent Rac exchanger 1 protein	Mus musculus (Mouse)	SS
Q3UTH8	Arhgef9	Rho guanine nucleotide exchange factor 9	Mus musculus (Mouse)	SS
Q8CJ00	Noxa1	NADPH oxidase activator 1	Mus musculus (Mouse)	SS
O70145	Ncf2	Neutrophil cytosol factor 2	Mus musculus (Mouse)	PR
A7E3N7	Noxa1	NADPH oxidase activator 1	Rattus norvegicus (Rat)	SS
A7E3N2	Ncf2	Neutrophil cytosol factor 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MEAGSVVRAI	FDFCPSVSEE	LPLFVGDIIE	VLAVVDEFWL	LGKKEDVTGQ	FPSSFVEIVT
70	80	90	100	110	120
IPSLKEGERL	FVCICEFTSQ	ELDNLPLHRG	DLVILDGIPT	AGWLQGRSCW	GARGFFPSSC
130	140	150	160	170	180
VRELCLSSQS	RQWHSQSALF	QIPEYSMGQA	RALMGLSAQL	DEELDFREGD	VITIIGVPEP
190	200	210	220	230	240
GWFEGELEGR	RGIFPEGFVE	LLGPLRTVDE	SVSSGNQDDC	IVNGEVDTPV	GEEEIGPDED
250	260	270	280	290	300
EEEPGTYGVA	LYRFQALEPN	ELDFEVGDKI	RILATLEDGW	LEGSLKGRTG	IFPYRFVKLC
310	320	330	340	350	360
PDTRVEETMA	LPQEGSLARI	PETSLDCLEN	TLGVEEQRHE	TSDHEAEEPD	CIISEAPTSP
370	380	390	400	410	420
LGHLTSEYDT	DRNSYQDEDT	AGGPPRSPGV	EWEMPLATDS	PTSDPTEVVN	GISSQPQVPF
430	440	450	460	470	480
HPNLQKSQYY	STVGGSHPHS	EQYPDLLPLE	ARTRDYASLP	PKRMYSQLKT	LQKPVLPLYR
490	500	510	520	530	540
GSSVSASRVV	KPRQSSPQLH	NLASYTKKHH	TSSVYSISER	LEMKPGPQAQ	GLVMEAATHS
550	560	570	580	590	600
QGDGSTDLDS	KLTQQLIEFE	KSLAGPGTEP	DKILRHFSIM	DFNSEKDIVR	GSSKLITEQE
610	620	630	640	650	660
LPERRKALRP	PPPRPCTPVS	TSPHLLVDQN	LKPAPPLVVR	PSRPAPLPPS	AQQRTNAVSP
670	680	690	700	710	720
KLLSRHRPTC	ETLEKEGPGH	MGRSLDQTSP	CPLVLVRIEE	MERDLDMYSR	AQEELNLMLE
730	740	750	760	770	780
EKQDESSRAE	TLEDLKFCES	NIESLNMELQ	QLREMTLLSS	QSSSLVAPSG	SVSAENPEQR
790	800	810	820	830	840
MLEKRAKVIE	ELLQTERDYI	RDLEMCIERI	MVPMQQAQVP	NIDFEGLFGN	MQMVIKVSKQ
850	860	870	880	890	900
LLAALEISDA	VGPVFLGHRD	ELEGTYKIYC	QNHDEAIALL	EIYEKDEKIQ	KHLQDSLADL
910	920	930	940	950	960
KSLYNEWGCT	NYINLGSFLI	KPVQRVMRYP	LLLMELLNST	PESHPDKVPL	TNAVLAVKEI
970	980	990	1000	1010	1020
NVNINEYKRR	KDLVLKYRKG	DEDSLMEKIS	KLNIHSIIKK	SNRVSSHLKH	LTGFAPQIKD
1030	1040	1050	1060	1070	1080
EVFEETEKNF	RMQERLIKSF	IRDLSLYLQH	IRESACVKVV	AAVSMWDVCM	ERGHRDLEQF
1090	1100	1110	1120	1130	1140
ERVHRYISDQ	LFTNFKERTE	RLVISPLNQL	LSMFTGPHKL	VQKRFDKLLD	FYNCTERAEK
1150	1160	1170	1180	1190	1200
LKDKKTLEEL	QSARNNYEAL	NAQLLDELPK	FHQYAQGLFT	NCVHGYAEAH	CDFVHQALEQ
1210	1220	1230	1240	1250	1260
LKPLLSLLKV	AGREGNLIAI	FHEEHSRVLQ	QLQVFTFFPE	SLPATKKPFE	RKTIDRQSAR
1270	1280	1290	1300	1310	1320
KPLLGLPSYM	LQSEELRASL	LARYPPEKLF	QAERNFNAAQ	DLDVSLLEGD	LVGVIKKKDP
1330	1340	1350	1360	1370	1380
MGSQNRWLID	NGVTKGFVYS	SFLKPYNPRR	SHSDASVGSH	SSTESEHGSS	SPRFPRQNSG
1390	1400	1410	1420	1430	1440
STLTFNPSSM	AVSFTSGSCQ	KQPQDASPPP	KECDQGTLSA	SLNPSNSESS	PSRCPSDPDS
1450	1460	1470	1480	1490	1500
TSQPRSGDSA	DVARDVKQPT	ATPRSYRNFR	HPEIVGYSVP	GRNGQSQDLV	KGCARTAQAP
1510	1520	1530	1540	1550	1560
EDRSTEPDGS	EAEGNQVYFA	VYTFKARNPN	ELSVSANQKL	KILEFKDVTG	NTEWWLAEVN
1570
GKKGYVPSNY	IRKTEYT