AiPD: Autoinhibited Protein Database

Q9H0B3

Gene name	IQCN
Protein name	IQ domain-containing protein N
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80726
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

266-349 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

266-349 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q9H0B3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9H0B3-F1	Predicted				AlphaFoldDB

1153 variants for Q9H0B3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_087804	304	Q>del	SPGF78 [UniProt]	Yes	UniProt
CA9309861 rs772035486	2	T>I		No	ClinGen ExAC
rs771265399 CA306197747	3	L>R		No	ClinGen TOPMed gnomAD
rs941566998 CA306196441	5	G>V		No	ClinGen Ensembl
rs749166362 CA9309839	8	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1267365351 CA404847166	9	L>P		No	ClinGen TOPMed
rs149409593 CA9309838	10	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309834 rs201829806	11	G>D		No	ClinGen ExAC TOPMed gnomAD
CA9309835 rs200204979	11	G>R		No	ClinGen ExAC TOPMed gnomAD
CA9309836 rs200204979	11	G>S		No	ClinGen ExAC TOPMed gnomAD
CA9309833 rs765916798	15	N>I		No	ClinGen ExAC gnomAD
CA9309832 rs765916798	15	N>S		No	ClinGen ExAC gnomAD
COSM3783204 rs754280743 CA9309830	18	G>S	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1212271 CA9309828 rs760408946	19	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA404846994 TCGA novel rs1600132853	19	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA404846946 rs1460712409	22	T>A		No	ClinGen TOPMed
CA9309826 rs771584219	24	H>D		No	ClinGen ExAC gnomAD
CA9309822 rs749013159	25	E>A		No	ClinGen ExAC gnomAD
CA9309824 rs377733617	25	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309823 rs377733617	25	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs963751336 CA306196375	26	P>L		No	ClinGen Ensembl
CA404846851 rs1285906934	27	V>A		No	ClinGen gnomAD
rs556071395 CA9309821	27	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA306196365 rs1022033147	30	Q>L		No	ClinGen Ensembl
CA404846797 rs1375442148	31	W>R		No	ClinGen TOPMed gnomAD
rs747235474 CA9309819	32	A>T		No	ClinGen ExAC gnomAD
COSM1212274 rs146156071 CA9309818	32	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs748282094 CA9309816	33	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1346018864 CA404846398	35	P>H		No	ClinGen gnomAD
CA9309815 rs779269004	35	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9309814 rs755534780	36	P>S		No	ClinGen ExAC gnomAD
CA9309812 rs755665886	37	A>G		No	ClinGen ExAC TOPMed gnomAD
rs754113626 CA9309813	37	A>S		No	ClinGen ExAC gnomAD
CA9309811 rs755665886	37	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9309808 rs111708098	39	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs773898503 CA9309807	40	H>L		No	ClinGen ExAC TOPMed gnomAD
rs553608312 CA9309804 CA9309806	40	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1568281687 CA404846310	43	L>F		No	ClinGen Ensembl
rs1213945223 CA404846306	43	L>P		No	ClinGen gnomAD
rs1469023 VAR_023418 CA9309802	44	L>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA404846298 rs1469023	44	L>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309799 rs748193741	47	M>T		No	ClinGen ExAC gnomAD
CA404846226 rs1382587534	48	E>K		No	ClinGen gnomAD
rs375914349 CA9309798	49	K>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	49	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs3810431 CA306196299	50	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1290889527 CA404846200	50	A>T		No	ClinGen gnomAD
CA9309797 rs3810431 VAR_049520	50	A>V		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA404846181 rs1303895526	51	P>L		No	ClinGen gnomAD
CA9309795 rs780484256	52	P>S		No	ClinGen ExAC TOPMed gnomAD
rs756466705 CA9309794	54	P>R		No	ClinGen ExAC gnomAD
rs750827109 CA9309793	55	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs767132887 CA9309792	56	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA306196263 rs202046091	57	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9309791 rs202046091	57	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199594868 CA9309790	59	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775482181 CA9309787	63	E>K		No	ClinGen ExAC TOPMed gnomAD
rs775482181 CA9309788	63	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA9309786 rs765150538	64	H>D		No	ClinGen ExAC gnomAD
CA306196258 rs770554698	65	L>F		No	ClinGen TOPMed gnomAD
CA9309784 rs140481493	66	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140481493 CA9309785	66	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201199846 CA9309782	67	Q>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1209836143 CA404845958	68	Q>*		No	ClinGen TOPMed
CA404845945 rs1217770311	69	P>A		No	ClinGen gnomAD
rs559989785 CA9309779	71	E>A		No	ClinGen 1000Genomes ExAC gnomAD
CA9309780 COSM1153341 rs768769426	71	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA9309778 rs780580459	72	G>D		No	ClinGen ExAC gnomAD
CA404845906 rs1485069816	72	G>S		No	ClinGen TOPMed
CA404845886 rs1184015754	73	K>R		No	ClinGen TOPMed
COSM1611829 rs377459079 CA9309777	74	T>M	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs377459079 CA9309776	74	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373020826 CA9309775	75	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs148330933 CA9309772	77	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309771 COSM1564618 rs757916869	77	R>H	Variant assessed as Somatic; 4.624e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA9309770 rs373171947	78	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309769 rs143527192	78	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	79	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404845814 rs970628103	79	V>F		No	ClinGen TOPMed gnomAD
CA306196176 rs970628103	79	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs201925767 CA9309767	81	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9309766 rs200448808	81	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9309764 rs774629439	82	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs768800722 CA9309763	82	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1012884589 CA306196138	83	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs369795197 CA9309762	83	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1300747380 CA404845746	84	A>V		No	ClinGen gnomAD
CA404845716 rs1183625551	86	V>A		No	ClinGen TOPMed gnomAD
CA306196133 rs970103383	86	V>I		No	ClinGen TOPMed
rs746376071 CA9309759	87	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs746376071 CA9309760	87	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1472944528 CA404845597	93	N>Y		No	ClinGen TOPMed
rs781475801 CA9309758	94	I>T		No	ClinGen ExAC TOPMed gnomAD
CA306196122 rs1013945466	95	L>P		No	ClinGen TOPMed gnomAD
CA404845557 rs1405697435	95	L>V		No	ClinGen TOPMed
CA9309755 rs777446729	98	E>K		No	ClinGen ExAC TOPMed gnomAD
CA9309753 rs144568628	99	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309754 rs758014164	99	M>V		No	ClinGen ExAC gnomAD
rs1420287938 CA404845485	100	D>N		No	ClinGen gnomAD
CA404845460 rs1236303966	101	M>L		No	ClinGen gnomAD
TCGA novel	101	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1408658430 CA404845420	102	M>I		No	ClinGen TOPMed
CA404845436 rs1177881429	102	M>L		No	ClinGen gnomAD
CA9309752 rs778574347	102	M>R		No	ClinGen ExAC TOPMed gnomAD
rs200990310 CA9309750 COSM1391670	104	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA404845377 rs1221366700	104	A>V		No	ClinGen TOPMed
CA9309749 rs375037491	105	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309747 rs141936844	105	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs141936844 CA9309748	105	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs763114364 COSM1153340 CA9309745	108	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA404845276 rs1446742987	112	A>V		No	ClinGen gnomAD
rs765313324 CA9309743	113	N>S		No	ClinGen ExAC gnomAD
rs1336626651 CA404845231	116	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA404845215 rs1394653695	117	Y>C		No	ClinGen gnomAD
CA306196052 rs942341949	119	L>V		No	ClinGen Ensembl
rs879225000 CA306196044	120	R>Q		No	ClinGen Ensembl
CA9309740 rs771463463	120	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1445216708 CA404845070	126	Q>R		No	ClinGen gnomAD
rs1244890230 CA404845032	128	M>I		No	ClinGen gnomAD
CA404845025 rs1351389027	129	A>T		No	ClinGen gnomAD
CA9309737 rs139076622	129	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1568281322 CA404844960	132	A>D		No	ClinGen Ensembl
CA9309734 rs573594173	132	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404844943 rs1351072806	133	I>N		No	ClinGen TOPMed
rs754533041 CA9309732	135	E>*		No	ClinGen ExAC
CA404844882 CA306196023 rs753887241	135	E>D		No	ClinGen Ensembl
rs531584807 CA306196011	136	A>D		No	ClinGen ExAC gnomAD
rs531584807 CA9309729	136	A>G		No	ClinGen ExAC gnomAD
COSM3822344 CA9309726 rs756026332	138	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA9309727 rs780119510	138	R>W		No	ClinGen ExAC gnomAD
rs199691381 CA9309725	139	R>C		No	ClinGen ExAC TOPMed gnomAD
rs767219841 CA9309724	139	R>H		No	ClinGen ExAC TOPMed gnomAD
rs199691381 CA404844817	139	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1300332498 CA404844789	140	F>L		No	ClinGen TOPMed
CA9309723 rs758586438	141	N>S		No	ClinGen ExAC TOPMed gnomAD
rs372395309 CA306195964	142	K>N		No	ClinGen ESP
rs752899476 CA9309722	142	K>R		No	ClinGen ExAC gnomAD
CA9309721 rs765508154	143	R>G		No	ClinGen ExAC gnomAD
rs1424669530 CA404844681	144	H>R		No	ClinGen gnomAD
CA306195942 rs1023525713	144	H>Y		No	ClinGen Ensembl
CA9309720 rs759576675	145	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	146	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404844585 rs1373469911	148	S>P		No	ClinGen gnomAD
rs1489424925 CA404844559	149	S>N		No	ClinGen gnomAD
CA404844529 rs1222469095	150	K>M		No	ClinGen TOPMed
rs142382089 CA9309717	151	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA306195933 rs958671320	152	L>S		No	ClinGen TOPMed
rs1248354631 CA404844457	153	V>G		No	ClinGen TOPMed
CA404844447 rs1600131529	154	K>N		No	ClinGen Ensembl
rs748613663 CA9309714	156	T>M		No	ClinGen ExAC TOPMed gnomAD
rs748613663 CA404844424	156	T>R		No	ClinGen ExAC TOPMed gnomAD
rs748759933 CA9309711	158	A>T		No	ClinGen ExAC gnomAD
rs199981121 CA9309710	158	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9309707 rs781247377	160	E>G		No	ClinGen ExAC gnomAD
rs751393774 CA9309705	162	D>G		No	ClinGen ExAC
CA404844197 rs1600131427	164	P>H		No	ClinGen Ensembl
CA9309704 rs765419598	164	P>T		No	ClinGen ExAC gnomAD
CA404844182 rs1397105148	165	Y>H		No	ClinGen TOPMed gnomAD
rs1421780824 CA404844113	167	A>D		No	ClinGen gnomAD
rs201062666 CA9309702	167	A>S		No	ClinGen ExAC TOPMed gnomAD
rs201062666 CA9309701	167	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9309700 rs760869877	169	Q>*		No	ClinGen ExAC
CA9309698 rs768111333	172	R>C		No	ClinGen ExAC TOPMed gnomAD
rs557466671 CA9309697 COSM1589854	172	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1196819104 CA404843940	174	Q>H		No	ClinGen gnomAD
rs1210714281 CA404843921	175	H>R		No	ClinGen gnomAD
rs760902608 CA9309696	176	P>L		No	ClinGen ExAC TOPMed gnomAD
CA404843907 rs1451597028	176	P>S		No	ClinGen gnomAD
CA9309694 rs762698811	178	E>D		No	ClinGen ExAC gnomAD
rs1257065080 CA404843807	179	N>D		No	ClinGen gnomAD
CA9309693 rs375616518	180	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs201565974 CA9309692	180	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA306195853 rs201565974	180	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA306195863 rs375616518	180	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs745447746 CA9309691	183	S>P		No	ClinGen ExAC TOPMed gnomAD
CA9309689 rs140150515	184	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	184	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1463891806 CA404843687	185	P>L		No	ClinGen gnomAD
CA404843664 rs1176849605	186	I>M		No	ClinGen gnomAD
rs981895214 CA306195809	186	I>T		No	ClinGen TOPMed gnomAD
CA9309686 rs566465980	187	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs146146831 CA9309687 COSM4131469	187	M>V	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA306195801 rs143097082	188	V>L		No	ClinGen ESP gnomAD
CA404843640 rs143097082	188	V>M		No	ClinGen ESP gnomAD
rs1239342575 CA404843601	190	K>E		No	ClinGen gnomAD
CA9309683 COSM1391668 rs756118445	190	K>R	large_intestine Variant assessed as Somatic; 4.626e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA9309682 rs750566777	192	T>N		No	ClinGen ExAC TOPMed gnomAD
CA404843540 rs1472954786	192	T>S		No	ClinGen TOPMed
CA9309681 rs767862602	193	Q>H		No	ClinGen ExAC gnomAD
CA404843516 rs1204694986	193	Q>R		No	ClinGen gnomAD
rs368751613 CA306195764	194	F>L		No	ClinGen ESP TOPMed gnomAD
CA9309680 VAR_049521 rs12609001	197	C>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA404843461 rs12609001	197	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs984524558 CA306195757	197	C>Y		No	ClinGen gnomAD
CA9309678 rs570544458	201	V>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1444528879 CA404843395	202	L>F		No	ClinGen gnomAD
CA404843386 rs1386375394	203	C>R		No	ClinGen TOPMed
rs774999992 CA9309676	204	R>I		No	ClinGen ExAC gnomAD
CA404843365 rs1449948130	204	R>S		No	ClinGen TOPMed gnomAD
rs1404720118 CA404843335	206	Q>H		No	ClinGen gnomAD
CA9309673 rs776224136 COSM3937943	207	S>L	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA306195727 rs998244562	208	S>P		No	ClinGen Ensembl
CA404843307 rs1381041931	209	P>H		No	ClinGen gnomAD
rs371073883 CA9309666	210	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs371073883 CA9309667	210	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309664 rs748016689	211	L>P		No	ClinGen ExAC TOPMed gnomAD
CA404843264 rs1600130943	212	Q>*		No	ClinGen Ensembl
CA9309663 rs780119106	213	P>L		No	ClinGen ExAC TOPMed gnomAD
CA306195701 rs200768230	214	P>L		No	ClinGen 1000Genomes gnomAD
CA404843228 rs200768230	214	P>Q		No	ClinGen 1000Genomes gnomAD
rs1007047917 CA306195700	216	A>D		No	ClinGen Ensembl
rs1208944578 CA404843207	216	A>S		No	ClinGen gnomAD
CA9309662 rs756381666	217	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs756381666 CA404843188	217	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1237312336 CA404843172	218	G>D		No	ClinGen gnomAD
CA404843176 rs1287604584	218	G>R		No	ClinGen gnomAD
rs767600410 COSM1148126 CA306195698	219	T>A	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs781336228 CA9309660	222	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	225	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9309658 rs752096699	225	Q>R		No	ClinGen ExAC gnomAD
rs764763143 CA9309657	226	G>A		No	ClinGen ExAC gnomAD
rs561795853 COSM1662458 CA9309656	227	P>S	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1054045167 CA306195693	228	H>Y		No	ClinGen TOPMed gnomAD
rs1417863264 CA404843012	229	A>T		No	ClinGen gnomAD
CA404842997 rs1380237505	229	A>V		No	ClinGen gnomAD
CA9309655 rs753152169	230	A>T		No	ClinGen ExAC gnomAD
CA404842969 rs1425963146	231	R>K		No	ClinGen gnomAD
CA9309654 rs149351876	233	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA404842948 rs775949156	233	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9309652 rs775949156	233	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9309653 rs149351876	233	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA404842939 rs1182322045	234	G>E		No	ClinGen TOPMed
TCGA novel	235	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9309649 VAR_023419 rs8103906	235	L>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs748291022	235	L>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA9309647 rs772047998	236	A>T		No	ClinGen ExAC TOPMed gnomAD
CA306195660 rs916361900	237	F>L		No	ClinGen TOPMed gnomAD
CA9309646 rs747851454	237	F>S		No	ClinGen ExAC
CA404842872 rs1255489362	238	L>R		No	ClinGen gnomAD
rs1265992263 CA404842871	239	P>T		No	ClinGen gnomAD
CA404842853 rs769842137	240	H>P		No	ClinGen ExAC gnomAD
rs769842137 CA9309644	240	H>R		No	ClinGen ExAC gnomAD
rs774235414 CA9309645	240	H>Y		No	ClinGen ExAC gnomAD
CA9309643 rs138854310	242	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs138854310 CA404842818	242	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1341363391 CA404842774	245	I>V		No	ClinGen gnomAD
rs1280270759 CA404842729	247	F>L		No	ClinGen gnomAD
rs866970424 CA306195620	250	P>L		No	ClinGen gnomAD
CA9309641 rs757408259	251	V>L		No	ClinGen ExAC TOPMed gnomAD
CA9309639 rs146116362	254	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs983395872 CA306195612	255	A>T		No	ClinGen TOPMed gnomAD
CA404842496 rs1345393160	256	K>E		No	ClinGen TOPMed
CA9309638 rs758991537	260	C>R		No	ClinGen ExAC
CA404842337 rs1459944421	261	L>R		No	ClinGen gnomAD
rs752961596 CA9309637	266	I>V		No	ClinGen ExAC gnomAD
CA9309635 rs755359161	269	T>A		No	ClinGen ExAC gnomAD
rs755359161 CA404842086	269	T>P		No	ClinGen ExAC gnomAD
CA9309634 rs753526376	271	L>F		No	ClinGen ExAC TOPMed gnomAD
rs61740702 CA9309632	272	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1302945771 CA404841941	273	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs761817032 CA9309629	274	I>M		No	ClinGen ExAC TOPMed gnomAD
rs767404568 CA9309630	274	I>T		No	ClinGen ExAC gnomAD
CA9309631 rs772731665	274	I>V		No	ClinGen ExAC
CA9309628 rs114859258	275	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1449820546 CA404841859	275	E>Q		No	ClinGen Ensembl
rs1180240986 CA404841826	276	G>D		No	ClinGen TOPMed
CA306195591 rs1006975951	276	G>R		No	ClinGen Ensembl
rs1180240986 CA404841828	276	G>V		No	ClinGen TOPMed
rs151015278 CA9309626	279	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1449528799 CA404841682	281	T>I		No	ClinGen gnomAD
rs771323979 CA9309624	283	R>C		No	ClinGen ExAC
CA9309623 rs747032925	283	R>H		No	ClinGen ExAC gnomAD
VAR_023420 rs8104533 CA9309622	285	S>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs758762388 CA9309621	287	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA404841547 rs1429578941	287	R>W		No	ClinGen gnomAD
rs748678870 CA9309620	288	T>I		No	ClinGen ExAC gnomAD
CA404841528 rs748678870	288	T>N		No	ClinGen ExAC gnomAD
rs1388589762 CA404841539	288	T>P		No	ClinGen gnomAD
CA306195553 rs1037930807	292	R>S		No	ClinGen TOPMed gnomAD
CA9309617 rs754253473	293	A>S		No	ClinGen ExAC TOPMed gnomAD
rs754253473 CA9309618	293	A>T		No	ClinGen ExAC TOPMed gnomAD
CA9309615 rs376299473	294	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309613 rs767028555	297	P>S		No	ClinGen ExAC gnomAD
rs751508699 CA9309611	298	L>F		No	ClinGen ExAC gnomAD
CA9309610 rs763978614	299	S>Y		No	ClinGen ExAC gnomAD
rs373065141 CA9309608	306	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309607 rs202135859	307	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309606 rs202135859	307	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1227619068 CA404841017	310	S>P		No	ClinGen TOPMed
CA9309603 rs181706934	312	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9309602 rs779457056	314	T>I		No	ClinGen ExAC gnomAD
CA9309601 rs769066438	316	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA9309600 rs749613223	317	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9309599 rs369730278	320	A>T		No	ClinGen ESP ExAC gnomAD
CA404840880 rs1402482368	320	A>V		No	ClinGen gnomAD
rs1304169852 CA404840850	322	T>I		No	ClinGen TOPMed gnomAD
CA404840852 rs1304169852	322	T>N		No	ClinGen TOPMed gnomAD
rs1276528426 CA404840823	323	P>L		No	ClinGen gnomAD
rs1376617566 CA404840845	323	P>S		No	ClinGen gnomAD
rs780772351 CA9309596	325	A>P		No	ClinGen ExAC gnomAD
rs1257154322 CA404840727	328	Q>*		No	ClinGen gnomAD
CA9309593 rs764039269	329	I>L		No	ClinGen ExAC TOPMed gnomAD
COSM3672790 CA404840689 rs1482385532	329	I>M	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA9309594 rs764039269	329	I>V		No	ClinGen ExAC TOPMed gnomAD
CA9309592 rs762825441	330	C>R		No	ClinGen ExAC TOPMed gnomAD
rs752470661 CA9309591	330	C>Y		No	ClinGen ExAC
TCGA novel	331	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1240959199 CA404840634	332	G>A		No	ClinGen gnomAD
CA404840627 rs1372769527	333	P>L		No	ClinGen TOPMed
CA9309588 rs773539164	334	M>L		No	ClinGen ExAC TOPMed gnomAD
rs772236417 CA9309587	334	M>T		No	ClinGen ExAC gnomAD
CA9309589 rs773539164	334	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	335	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341402831 CA404840538	339	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1336519621 CA404840514	340	L>F		No	ClinGen gnomAD
CA404840497 rs1395111023	341	Q>H		No	ClinGen TOPMed
rs761907229 CA9309586	342	T>I		No	ClinGen ExAC TOPMed gnomAD
CA404840467 rs769141287 CA9309584	343	Y>*		No	ClinGen ExAC gnomAD
CA404840406 rs1600129958	347	S>P		No	ClinGen Ensembl
rs770138748 CA9309582	348	V>L		No	ClinGen ExAC gnomAD
CA9309581 rs770138748	348	V>M		No	ClinGen ExAC gnomAD
rs780875150 CA306195352 COSM4140409	349	T>A	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs780875150 CA9309579	349	T>P		No	ClinGen ExAC TOPMed gnomAD
rs780875150 CA9309580	349	T>S		No	ClinGen ExAC TOPMed gnomAD
rs541126673 CA306195345	352	Q>*		No	ClinGen Ensembl
CA404840261 rs1422354037	355	P>S		No	ClinGen gnomAD
rs189911115 CA9309578	356	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752664961 CA9309575	358	T>K		No	ClinGen ExAC TOPMed gnomAD
CA9309574 COSM1589858 rs752664961	358	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
VAR_023421 rs3746186 CA9309573	359	M>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1243069847 CA404840114	363	P>R		No	ClinGen gnomAD
rs1424646717 CA404840127	363	P>S		No	ClinGen Ensembl
CA9309572 rs754800770	364	P>H		No	ClinGen ExAC TOPMed gnomAD
rs1600129736 CA404840072	365	K>T		No	ClinGen Ensembl
CA9309570 rs761946368	367	S>I		No	ClinGen ExAC TOPMed gnomAD
CA9309569 rs761946368	367	S>N		No	ClinGen ExAC TOPMed gnomAD
rs764068793 CA9309567	368	P>L		No	ClinGen ExAC gnomAD
CA9309568 rs368983911	368	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs929226664 CA404839978	370	P>S		No	ClinGen gnomAD
rs929226664 CA306195292	370	P>T		No	ClinGen gnomAD
CA9309566 rs763085990	374	I>L		No	ClinGen ExAC gnomAD
rs1427022639 CA404839909	374	I>T		No	ClinGen TOPMed
CA404839911 rs763085990	374	I>V		No	ClinGen ExAC gnomAD
rs1161248156 CA404838776	375	I>T		No	ClinGen gnomAD
CA9309564 rs775943613	376	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1568280366 CA404838754	377	T>A		No	ClinGen Ensembl
rs754545764 CA9309561	380	Q>R		No	ClinGen ExAC gnomAD
rs1452763083 CA404838679	381	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9309560 rs770546545	381	M>K		No	ClinGen ExAC TOPMed gnomAD
CA9309559 rs146596461 COSM1162599	383	P>L	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1405896423 CA404838659	383	P>T		No	ClinGen gnomAD
rs61740748 CA9309557	384	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258341855 CA404838602	387	V>G		No	ClinGen gnomAD
CA404838577 rs1354214710	389	K>N		No	ClinGen TOPMed
TCGA novel	389	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139734513 CA306195242	390	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs139734513 CA9309555	390	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374925120 CA9309554	391	A>P		No	ClinGen ESP ExAC gnomAD
CA306195241 rs985525564	391	A>V		No	ClinGen TOPMed
CA9309553 rs372182339	392	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1332773684 CA404838535	393	H>R		No	ClinGen TOPMed gnomAD
CA306195226 rs958426436	395	C>Y		No	ClinGen TOPMed gnomAD
rs1439930583 CA404838475	396	P>L		No	ClinGen gnomAD
CA404838470 rs1236118491	397	M>V		No	ClinGen TOPMed
CA9309552 rs766102393	398	P>H		No	ClinGen ExAC gnomAD
rs766102393 CA404838442	398	P>L		No	ClinGen ExAC gnomAD
CA9309551 rs755996872	399	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	400	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA306195221 rs1000128963	400	M>V		No	ClinGen gnomAD
rs1600129477 CA404838367	403	I>T		No	ClinGen Ensembl
rs764337661 CA9309549	404	Q>*		No	ClinGen ExAC gnomAD
CA9309548 rs762996304	404	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA404838349 rs1192261396	405	V>I		No	ClinGen gnomAD
rs1600129413 CA404838333	406	H>P		No	ClinGen Ensembl
rs775567921 CA9309547	406	H>Y		No	ClinGen ExAC gnomAD
CA9309546 rs765692319	408	T>S		No	ClinGen ExAC gnomAD
CA404838298 rs1271781168	409	A>V		No	ClinGen gnomAD
rs570679686 CA9309545	412	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs947031984 CA306195172	414	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs947031984 CA404838220	414	T>N		No	ClinGen TOPMed gnomAD
rs139542395 COSM1391659 CA9309542	416	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs200263958 CA9309543	416	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA404838163 rs1352995019	417	Q>H		No	ClinGen gnomAD
CA404838120 rs1600129263	420	P>L		No	ClinGen Ensembl
CA9309541 rs568188509	421	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9309539 rs150907790	422	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141411066 CA9309537	424	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	425	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404838026 rs1479834403	426	K>E		No	ClinGen gnomAD
CA404838003 rs887552238	427	N>D		No	ClinGen Ensembl
CA306195092 rs887552238	427	N>H		No	ClinGen Ensembl
CA404837980 rs1231981198	428	R>*		No	ClinGen TOPMed gnomAD
rs201206942 CA9309533	428	R>L		No	ClinGen ExAC gnomAD
rs201206942 CA9309534	428	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	429	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9309532 rs777922382	429	P>L		No	ClinGen ExAC TOPMed
CA9309531 rs758650592	431	V>G		No	ClinGen ExAC TOPMed gnomAD
CA9309530 rs752703118	432	S>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	432	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1040278321 CA306195046	433	L>V		No	ClinGen TOPMed
rs759716639 CA9309528	434	L>M		No	ClinGen ExAC gnomAD
rs1311299488 CA404837858	435	A>T		No	ClinGen gnomAD
CA9309524 rs773747434	438	M>R		No	ClinGen ExAC gnomAD
rs760901769 CA9309525	438	M>V		No	ClinGen ExAC gnomAD
TCGA novel	442	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404837690 rs1434120257	444	V>L		No	ClinGen TOPMed gnomAD
CA404837664 rs1160931746	445	C>R		No	ClinGen gnomAD
rs559069767 CA9309521	446	P>L		No	ClinGen ExAC TOPMed gnomAD
rs559069767 CA9309520	446	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1182788702 CA404837604	447	G>E		No	ClinGen gnomAD
rs1254878851 CA404837592	448	P>L		No	ClinGen TOPMed gnomAD
CA404837598 rs1473611787	448	P>T		No	ClinGen gnomAD
CA9309517 rs532713956	449	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9309515 rs745608526	452	K>E		No	ClinGen ExAC gnomAD
rs780969540 CA9309514	452	K>N		No	ClinGen ExAC gnomAD
rs1600128946 CA404837493	453	T>P		No	ClinGen Ensembl
rs752899262 CA9309513	454	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1229818380 CA404837455	454	P>Q		No	ClinGen gnomAD
CA404837456 rs752899262	454	P>S		No	ClinGen ExAC TOPMed gnomAD
rs752899262 CA9309512	454	P>T		No	ClinGen ExAC TOPMed gnomAD
CA306194948 rs978279752	456	Q>*		No	ClinGen Ensembl
rs1600128890 CA404837308	458	H>P		No	ClinGen Ensembl
CA9309508 rs766759094	459	P>L		No	ClinGen ExAC gnomAD
rs766759094 CA9309509	459	P>Q		No	ClinGen ExAC gnomAD
rs750763248 CA9309506	460	V>I		No	ClinGen ExAC gnomAD
CA404837226 rs1600128850	461	T>P		No	ClinGen Ensembl
CA404837210 rs1600128842	462	T>P		No	ClinGen Ensembl
CA404837144 rs767981701	464	A>G		No	ClinGen ExAC TOPMed
rs767981701 CA9309505	464	A>V		No	ClinGen ExAC TOPMed
rs762335490 CA9309503	465	K>R		No	ClinGen ExAC TOPMed gnomAD
CA404837067 rs1345107706	466	N>S		No	ClinGen gnomAD
CA306194902 rs1025196202	467	P>L		No	ClinGen Ensembl
CA404836867 rs1267797141	474	A>V		No	ClinGen gnomAD
rs1186737756 CA404836811	476	M>R		No	ClinGen gnomAD
CA404836818 rs1415245970	476	M>V		No	ClinGen gnomAD
TCGA novel	478	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	479	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373950102 CA306194891	480	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs763854982 CA9309500	480	S>P		No	ClinGen ExAC
CA9309499 rs762320337	482	Q>*		No	ClinGen ExAC gnomAD
CA404836628 rs1264767191	482	Q>P		No	ClinGen TOPMed gnomAD
CA9309497 rs769551194	484	S>T		No	ClinGen ExAC TOPMed gnomAD
CA9309494 rs770705083	486	V>D		No	ClinGen ExAC gnomAD
rs1232949525 CA404836481	487	G>R		No	ClinGen TOPMed gnomAD
rs779061197 CA9309492	488	V>A		No	ClinGen ExAC gnomAD
CA404836462 rs1318849128	488	V>L		No	ClinGen gnomAD
rs1439094079 CA404836377	492	S>P		No	ClinGen gnomAD
CA404836333 rs1164632033	494	Q>*		No	ClinGen gnomAD
CA404836355 rs1164632033	494	Q>E		No	ClinGen gnomAD
CA9309487 rs750962853	494	Q>H		No	ClinGen ExAC gnomAD
rs757676566 CA9309485	495	T>A		No	ClinGen ExAC gnomAD
rs757676566 CA9309484	495	T>P		No	ClinGen ExAC gnomAD
rs1396043221 CA404836277	496	R>C		No	ClinGen TOPMed
CA9309483 rs138404210	496	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309482 rs138404210	496	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404836269 rs138404210	496	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1006333289 CA306194782	499	A>S		No	ClinGen Ensembl
rs774805619 CA9309480	500	M>V		No	ClinGen ExAC gnomAD
rs764786631 CA9309479	501	I>R		No	ClinGen ExAC gnomAD
CA404836193 rs1252204313	502	T>A		No	ClinGen gnomAD
rs145918149 CA306194768	502	T>I		No	ClinGen ESP gnomAD
CA404836150 rs1600128504	504	T>P		No	ClinGen Ensembl
CA306194765 rs975026208	506	A>S		No	ClinGen Ensembl
CA404836063 rs1362990377	507	Q>H		No	ClinGen TOPMed
TCGA novel	507	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404836057 rs1458385630	508	L>I		No	ClinGen TOPMed gnomAD
rs185412321 CA9309477	509	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309476 rs776515729	509	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9309474 rs367828063 COSM1212280	510	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs770901477 CA9309475	510	S>P		No	ClinGen ExAC gnomAD
CA9309472 rs768706592	511	V>A		No	ClinGen ExAC gnomAD
CA9309470 rs780208141	512	A>G		No	ClinGen ExAC gnomAD
CA9309471 rs749516603	512	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	512	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9309469 rs756189447	513	T>A		No	ClinGen ExAC gnomAD
rs1217735007 CA404835944	513	T>N		No	ClinGen TOPMed
CA404835964 rs756189447	513	T>P		No	ClinGen ExAC gnomAD
rs757868758 CA9309466	514	I>S		No	ClinGen ExAC TOPMed gnomAD
rs757868758 CA9309465	514	I>T		No	ClinGen ExAC TOPMed gnomAD
rs745995627 CA9309467	514	I>V		No	ClinGen ExAC gnomAD
CA9309463 rs764532603	515	L>I		No	ClinGen ExAC gnomAD
CA9309462 rs752385923	517	T>A		No	ClinGen ExAC TOPMed gnomAD
CA404835878 rs1419333167	517	T>I		No	ClinGen TOPMed
CA9309461 rs752385923	517	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1480419876 CA404835848	519	C>R		No	ClinGen gnomAD
TCGA novel	521	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9309459 rs764835053	521	A>V		No	ClinGen ExAC gnomAD
CA9309458 rs759022477	522	S>F		No	ClinGen ExAC gnomAD
rs943274191 CA306194725	523	P>S		No	ClinGen Ensembl
CA9309457 VAR_049522 rs12462974	524	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA404835707 rs1320767252	525	V>A		No	ClinGen TOPMed
rs1346163122 CA404835687	527	N>D		No	ClinGen TOPMed
rs760622999 CA9309455	529	K>R		No	ClinGen ExAC gnomAD
CA404835593 rs1337940367	530	A>V		No	ClinGen gnomAD
CA404835519 rs1287356728	534	V>A		No	ClinGen TOPMed
CA404835516 rs1287356728	534	V>G		No	ClinGen TOPMed
CA9309454 rs771900030	535	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9309453 COSM3742829 rs771900030	535	A>V	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA404835487 rs1600128137	536	V>G		No	ClinGen Ensembl
rs1332654550 CA404835495	536	V>I		No	ClinGen TOPMed
CA9309450 rs373689344	539	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745899848 CA9309449	541	P>R		No	ClinGen ExAC TOPMed gnomAD
CA404835396 rs1446240500	542	N>D		No	ClinGen TOPMed
rs978588985 CA404835381	542	N>K		No	ClinGen TOPMed gnomAD
CA9309448 rs781423634	543	T>A		No	ClinGen ExAC gnomAD
rs781423634 CA404835373	543	T>P		No	ClinGen ExAC gnomAD
CA404835352 rs1390918902	544	S>L		No	ClinGen gnomAD
rs1600128064 CA404835354	544	S>P		No	ClinGen Ensembl
rs61740749 CA9309446	546	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61740749 CA9309445	546	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404835328 rs1600128056	546	S>P		No	ClinGen Ensembl
CA9309444 rs758757855	547	I>N		No	ClinGen ExAC gnomAD
CA9309443 rs753051385	548	H>R		No	ClinGen ExAC gnomAD
CA404835220 rs536971117 CA9309442	550	N>K		No	ClinGen ExAC TOPMed gnomAD
rs753287855 CA9309440	554	A>T		No	ClinGen ExAC gnomAD
rs992350340 CA306194629	554	A>V		No	ClinGen Ensembl
COSM1589863 CA9309436 rs370529416	558	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP NCI-TCGA TOPMed
rs750347018 CA9309434	560	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1312419035 CA404835022	562	Q>*		No	ClinGen TOPMed
rs767407852 CA9309433	563	A>S		No	ClinGen ExAC gnomAD
rs761623082 CA9309432	563	A>V		No	ClinGen ExAC TOPMed
rs774048408 CA9309431	564	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1568279694 CA404834915	567	V>G		No	ClinGen Ensembl
CA404834890 rs1298251894	568	K>N		No	ClinGen gnomAD
rs1011480888 CA306194592	569	A>T		No	ClinGen TOPMed
CA306194584 rs951810882	571	S>T		No	ClinGen Ensembl
CA306194578 rs1026036255	572	P>L		No	ClinGen TOPMed
rs151152365 CA9309429	574	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309427 rs771129819	576	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9309425 rs778320368	577	E>A		No	ClinGen ExAC gnomAD
rs1256969348 CA404834698	577	E>D		No	ClinGen TOPMed gnomAD
rs1018718109 CA306194542	578	G>R		No	ClinGen gnomAD
TCGA novel	579	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9309424 rs772476793	580	I>L		No	ClinGen ExAC gnomAD
CA9309423 rs749349217	580	I>N		No	ClinGen ExAC
CA306194524 rs150507863	581	R>K		No	ClinGen 1000Genomes gnomAD
rs779264398 CA9309422	581	R>S		No	ClinGen ExAC gnomAD
rs753484620 CA9309420	583	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs370950394 CA9309419	584	A>T		No	ClinGen ESP ExAC gnomAD
rs1432211017 CA404834586	587	H>L		No	ClinGen gnomAD
rs1432211017 CA404834587	587	H>P		No	ClinGen gnomAD
rs1007379990 CA306194494	587	H>Y		No	ClinGen gnomAD
rs548364590 CA9309418	588	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	592	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9309414 rs751306707	593	P>L		No	ClinGen ExAC TOPMed gnomAD
rs751306707 CA9309415	593	P>R		No	ClinGen ExAC TOPMed gnomAD
CA306194489 rs1039053122	593	P>S		No	ClinGen TOPMed
rs1600127676 CA404834518	594	R>G		No	ClinGen Ensembl
CA404834495 rs763964039	595	A>G		No	ClinGen ExAC TOPMed gnomAD
rs763964039 CA9309413	595	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9309412 rs565750509	596	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs776960969 CA9309410	597	A>T		No	ClinGen ExAC TOPMed gnomAD
rs756116596 CA404834469	598	E>*		No	ClinGen gnomAD
CA9309409 rs376962828	598	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs756116596 CA306194467	598	E>K		No	ClinGen gnomAD
rs1600127623 CA404834456	599	L>P		No	ClinGen Ensembl
rs760757546 CA404834453	600	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1600127608 CA404834449	600	P>L		No	ClinGen Ensembl
rs760757546 CA9309408	600	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1600127605 CA404834436	602	E>K		No	ClinGen Ensembl
rs1258243210 CA404834412	604	E>K		No	ClinGen TOPMed gnomAD
rs772575618 CA9309406	605	K>E		No	ClinGen ExAC TOPMed gnomAD
rs2277922 CA9309402 VAR_049523	610	T>P		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs61740751 CA9309400	611	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61740751 CA9309401	611	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404834318 rs1274304280	612	K>E		No	ClinGen TOPMed
rs16982285 CA404834280	614	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309397 VAR_049524 rs16982285	614	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA404834258 rs139728452	616	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309395 rs139728452	616	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs752560660 CA9309392 CA9309393	618	M>I		No	ClinGen ExAC TOPMed gnomAD
rs145865696 CA306194364	618	M>T		No	ClinGen ESP TOPMed
rs1168930423 CA404834181	623	S>G		No	ClinGen TOPMed gnomAD
rs1327872244 CA404834156	625	A>T		No	ClinGen TOPMed
rs773542240 CA9309389	630	G>R		No	ClinGen ExAC gnomAD
rs761993120 CA9309387	631	A>D		No	ClinGen ExAC gnomAD
rs767491723 CA404834092	631	A>P		No	ClinGen ExAC gnomAD
rs767491723 CA9309388	631	A>T		No	ClinGen ExAC gnomAD
CA9309386 rs530273455	632	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs530273455 CA9309385	632	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1018171088 CA306194308	634	W>C		No	ClinGen TOPMed gnomAD
CA404834036 rs1450968192	637	V>F		No	ClinGen TOPMed gnomAD
CA404834037 rs1450968192	637	V>L		No	ClinGen TOPMed gnomAD
rs377727246 CA306194307	638	A>G		No	ClinGen gnomAD
CA9309384 rs749615907	641	G>A		No	ClinGen ExAC TOPMed gnomAD
CA404834008 rs749615907	641	G>E		No	ClinGen ExAC TOPMed gnomAD
rs775839574 CA9309383	642	D>E		No	ClinGen ExAC gnomAD
rs1301097479 CA404834006	642	D>N		No	ClinGen TOPMed gnomAD
rs769427574 CA9309382	643	K>R		No	ClinGen ExAC gnomAD
CA404833984 rs1281051617	645	P>S		No	ClinGen gnomAD
CA404833974 rs1444711070	646	H>Q		No	ClinGen gnomAD
rs745491626 CA9309381	647	V>M		No	ClinGen ExAC TOPMed gnomAD
CA404833963 rs8110972	648	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309380 VAR_034042 rs8110972	648	Y>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1469173128 CA404833959	649	V>M		No	ClinGen TOPMed
TCGA novel	650	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199520120 CA9309379	651	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA404833932 rs1213636511	653	M>T		No	ClinGen TOPMed gnomAD
rs746566902 CA9309378	653	M>V		No	ClinGen ExAC gnomAD
rs777803055 CA9309377	654	A>S		No	ClinGen ExAC gnomAD
CA404833921 rs1409245270	655	V>L		No	ClinGen gnomAD
CA404833913 rs1265531963	656	T>N		No	ClinGen TOPMed
rs1600127197 CA404833915	656	T>P		No	ClinGen Ensembl
rs1468282231 CA404833909	657	L>V		No	ClinGen gnomAD
rs1194185304 CA404833903	658	P>S		No	ClinGen TOPMed
rs139682639 CA9309374	659	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309375 rs572232343	659	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs993902963 CA306194276	661	Q>*		No	ClinGen TOPMed
rs993902963 CA404833890	661	Q>K		No	ClinGen TOPMed
rs1354314181 CA404833880	662	L>P		No	ClinGen gnomAD
rs1286167112 CA404833864	665	P>S		No	ClinGen gnomAD
rs199658761 CA9309372	668	N>S		No	ClinGen ExAC TOPMed gnomAD
rs565006063 CA9309371	670	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404833817 rs1261567108	672	Q>H		No	ClinGen Ensembl
CA9309370 rs761837049	672	Q>R		No	ClinGen ExAC gnomAD
rs1357496783 CA404833795	675	P>L		No	ClinGen gnomAD
rs1414785134 CA404833794	676	P>S		No	ClinGen TOPMed gnomAD
rs764521537 CA9309368	677	C>W		No	ClinGen ExAC gnomAD
rs1337734957 CA404833785	677	C>Y		No	ClinGen TOPMed
rs1406832012 CA404833758	681	R>I		No	ClinGen TOPMed gnomAD
CA9309364 rs759981533	683	L>P		No	ClinGen ExAC gnomAD
CA404833747 rs759981533	683	L>Q		No	ClinGen ExAC gnomAD
rs776124761 CA9309363	684	A>T		No	ClinGen ExAC gnomAD
CA404833739 rs1486156362	685	A>P		No	ClinGen TOPMed gnomAD
rs1486156362 CA404833740	685	A>T		No	ClinGen TOPMed gnomAD
rs372404253 CA9309360	686	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568279206 CA404833727	687	L>P		No	ClinGen Ensembl
rs1487335616 CA404833711	689	K>N		No	ClinGen TOPMed
CA404833705 rs1273549935	690	A>V		No	ClinGen gnomAD
CA404833701 rs1600126866	691	S>*		No	ClinGen Ensembl
CA9309358 rs748095173	693	Q>L		No	ClinGen ExAC gnomAD
CA404833682 rs1431372216	694	G>E		No	ClinGen gnomAD
rs778950093 CA404833676	695	H>P		No	ClinGen ExAC TOPMed gnomAD
rs778950093 CA9309356	695	H>R		No	ClinGen ExAC TOPMed gnomAD
CA404833679 rs1474800130	695	H>Y		No	ClinGen TOPMed
CA9309354 rs753693754	696	L>M		No	ClinGen ExAC gnomAD
CA9309352 rs781234979	696	L>Q		No	ClinGen ExAC gnomAD
rs753693754 CA9309353	696	L>V		No	ClinGen ExAC gnomAD
rs369942196 CA9309351	698	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA404833660 rs1162272636	698	T>I		No	ClinGen gnomAD
rs1600126717 CA404833632	703	T>P		No	ClinGen Ensembl
rs765977647 CA306194144	704	P>A		No	ClinGen gnomAD
rs765977647 CA404833626	704	P>T		No	ClinGen gnomAD
CA9309349 rs764143136	705	S>P		No	ClinGen ExAC gnomAD
rs375526476 CA9309346	707	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309347 rs753108966	707	A>T		No	ClinGen ExAC gnomAD
rs759769692 CA9309345	710	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	713	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9309342 rs770639098	713	L>P		No	ClinGen ExAC gnomAD
rs1416088883 CA404833559	715	K>*		No	ClinGen TOPMed
rs1600126640 CA404832563	716	M>I		No	ClinGen Ensembl
CA9309341 rs773068205	716	M>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs773068205 CA9309340	716	M>V		No	ClinGen ExAC gnomAD
rs1244196533 CA404832550	717	H>R		No	ClinGen TOPMed gnomAD
rs1600126624 CA404832537	718	S>P		No	ClinGen Ensembl
rs771679475 CA9309339	721	H>Y		No	ClinGen ExAC gnomAD
CA9309337 rs778667452	723	A>P		No	ClinGen ExAC gnomAD
rs768673380 CA9309336	724	T>A		No	ClinGen ExAC gnomAD
CA9309335 rs748972475	724	T>R		No	ClinGen ExAC gnomAD
rs747225387 COSM1589865 CA9309332	727	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA404832337 rs1427851900	731	S>F		No	ClinGen gnomAD
CA9309329 rs372896613	733	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309330 rs372896613	733	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA9309328 rs200444927	735	L>V		No	ClinGen ExAC TOPMed gnomAD
rs755512329 CA9309327	736	A>T		No	ClinGen ExAC gnomAD
CA9309326 rs754092776	736	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9309324 rs761164049	738	C>F		No	ClinGen ExAC gnomAD
CA404832242 rs1213294665	739	L>P		No	ClinGen TOPMed
CA9309321 rs761192366	742	T>M		No	ClinGen ExAC TOPMed gnomAD
CA9309322 rs761192366	742	T>R		No	ClinGen ExAC TOPMed gnomAD
CA9309318 rs201417885	744	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs201417885 CA9309317	744	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs147485534 CA404832177	745	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs745707956 CA9309315	745	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs147485534 CA9309316	745	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309313 rs758650340	748	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779060634 CA9309311	749	I>V		No	ClinGen ExAC gnomAD
rs534773924 CA9309310	752	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1394312151 CA404832096	753	T>I		No	ClinGen gnomAD
rs754339948 CA9309309	754	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1464141011 CA404832087	755	C>Y		No	ClinGen TOPMed
rs1600126287 CA404832072	757	I>T		No	ClinGen Ensembl
rs750849385 CA9309307	759	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9309306 COSM1153337 rs750849385	759	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1375160208 CA404832059	760	H>N		No	ClinGen TOPMed
CA404832056 rs1600126256	760	H>P		No	ClinGen Ensembl
CA306192534 rs955053435	763	A>T		No	ClinGen TOPMed gnomAD
CA306192533 rs1029324041	764	D>A		No	ClinGen TOPMed
TCGA novel	765	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404832001 rs1213706130	765	L>V		No	ClinGen TOPMed gnomAD
rs773936058 CA9309304 CA9309303	767	S>R		No	ClinGen ExAC gnomAD
CA404831954 rs1600126215	768	N>T		No	ClinGen Ensembl
rs938132511 CA306192532	769	T>S		No	ClinGen TOPMed gnomAD
rs763659684 CA9309302	770	H>N		No	ClinGen ExAC gnomAD
rs762406665 CA9309301	771	S>F		No	ClinGen ExAC gnomAD
CA404831886 rs1600126179	772	Q>H		No	ClinGen Ensembl
CA404831876 rs1349844828	773	V>A		No	ClinGen gnomAD
rs769742110 CA9309299	774	L>F		No	ClinGen ExAC gnomAD
rs373797917 CA9309298	777	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA404831836 rs1355595065	777	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	778	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776414183 CA9309297	778	S>F		No	ClinGen ExAC gnomAD
rs1017059146 CA306192470	779	K>E		No	ClinGen TOPMed
rs772126042 CA9309296	779	K>N		No	ClinGen ExAC TOPMed gnomAD
CA404831823 rs1158945583	779	K>R		No	ClinGen gnomAD
CA9309295 rs368056732	781	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA306192456 rs74751202	781	S>P		No	ClinGen Ensembl
CA9309293 rs768761161	782	N>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780667666 CA9309292	782	N>I		No	ClinGen ExAC gnomAD
rs1484983199 CA404831806	782	N>K		No	ClinGen gnomAD
rs780667666 CA9309291	782	N>S		No	ClinGen ExAC gnomAD
rs1600126015 CA404831803	783	H>P		No	ClinGen Ensembl
rs756697812 CA9309290	783	H>Y		No	ClinGen ExAC gnomAD
CA9309287 rs919555228	784	A>T		No	ClinGen TOPMed
CA9309286 rs373878133	785	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309285 rs149314979	787	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs138659815 CA9309284	787	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765090909 CA9309280	789	G>A		No	ClinGen ExAC gnomAD
CA9309282 rs115880323	789	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404831729 rs765090909	789	G>D		No	ClinGen ExAC gnomAD
CA9309281 rs115880323	789	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404831690 rs760161248 COSM1480791	792	S>R	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs776605726 CA9309278	793	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1382580048 CA404831668	794	P>L		No	ClinGen TOPMed gnomAD
CA404831675 rs1383820288	794	P>S		No	ClinGen gnomAD
rs760438347 CA9309275	795	P>R		No	ClinGen ExAC gnomAD
rs140812621 CA404831661	795	P>S		No	ClinGen ESP TOPMed gnomAD
rs140812621 CA306192388	795	P>T		No	ClinGen ESP TOPMed gnomAD
rs768792345 CA9309273	796	W>C		No	ClinGen ExAC gnomAD
CA404831650 rs1600125848	796	W>G		No	ClinGen Ensembl
CA404831639 rs1600125834	797	A>P		No	ClinGen Ensembl
CA404831629 rs1474241576	798	K>Q		No	ClinGen gnomAD
rs1194577966 CA404831615	799	P>S		No	ClinGen gnomAD
rs1194577966 CA404831611	799	P>T		No	ClinGen gnomAD
TCGA novel	800	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1449221120 CA404831579	801	D>E		No	ClinGen gnomAD
rs1600125800 CA404831576	802	R>G		No	ClinGen Ensembl
CA306192360 rs866081916	803	Q>*		No	ClinGen Ensembl
CA404831552 rs1568278735	804	T>P		No	ClinGen Ensembl
CA404831541 rs1182950481	805	Q>K		No	ClinGen Ensembl
rs202117212 CA9309270	809	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA9309268 rs145397252 COSM1589866	810	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA9309267 rs781775477	811	H>N		No	ClinGen ExAC gnomAD
CA9309266 rs757616379	811	H>R		No	ClinGen ExAC gnomAD
CA404831442 rs1419540563	812	V>A		No	ClinGen TOPMed
CA404831448 rs140540623	812	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309264 COSM4140407 rs140540623	812	V>M	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA9309263 rs561221398	813	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404831436 rs1324617774	813	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA9309261 rs764711141	814	G>E		No	ClinGen ExAC TOPMed gnomAD
CA404831428 rs1422182632	814	G>R		No	ClinGen TOPMed
rs1326922984 CA404831416	815	K>E		No	ClinGen TOPMed
rs1403789067 CA404831391	816	T>I		No	ClinGen gnomAD
rs1390179607 CA404831383	817	T>S		No	ClinGen gnomAD
CA9309259 rs527865880	818	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA9309257 CA9309256 rs766249835	819	G>R		No	ClinGen ExAC TOPMed
rs766249835 CA9309254	819	G>W		No	ClinGen ExAC TOPMed
CA404831344 rs772889466	820	G>A		No	ClinGen ExAC TOPMed gnomAD
rs772889466 CA404831346	820	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760480540 CA9309253	820	G>R		No	ClinGen ExAC gnomAD
rs772889466 CA9309252	820	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1336938680 CA404831333	821	P>L		No	ClinGen TOPMed
CA306192315 rs905307179	821	P>S		No	ClinGen Ensembl
CA404831315 rs1191415487	823	P>A		No	ClinGen gnomAD
CA9309251 rs12608777	823	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404831312 rs12608777	823	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309250 VAR_034043 rs12608777	823	P>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA404831314 rs1191415487	823	P>S		No	ClinGen gnomAD
CA9309248 rs769967533	824	A>S		No	ClinGen ExAC TOPMed gnomAD
CA9309247 rs745991329	824	A>V		No	ClinGen ExAC TOPMed gnomAD
CA404831259 rs777143158	827	E>D		No	ClinGen ExAC TOPMed gnomAD
COSM1239245 CA9309245 rs771370016	830	G>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA404831239 rs771370016	830	G>S		No	ClinGen ExAC TOPMed gnomAD
CA404831226 CA404831227 rs1434666881	831	M>I		No	ClinGen gnomAD
rs1330673693 CA404831220	833	V>L		No	ClinGen gnomAD
CA404831218 rs1330673693	833	V>M		No	ClinGen gnomAD
CA9309243 rs377401094	834	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377401094 CA404831210	834	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA404831212 rs1329638186	834	P>S		No	ClinGen gnomAD
rs2277921 VAR_049525 CA9309241	835	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754437198 CA404831183	839	T>A		No	ClinGen ExAC TOPMed gnomAD
rs774146126 CA9309238	839	T>I		No	ClinGen ExAC TOPMed gnomAD
rs754437198 CA9309239	839	T>P		No	ClinGen ExAC TOPMed gnomAD
CA9309235 rs147482351	840	G>D		No	ClinGen ESP ExAC gnomAD
rs139912954 CA9309236	840	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA404831172 rs1250393048	841	H>R		No	ClinGen gnomAD
CA404831156 rs1211577088	843	T>I		No	ClinGen TOPMed gnomAD
CA404831154 rs1349957461	844	C>R		No	ClinGen gnomAD
CA9309234 rs767214108	845	N>S		No	ClinGen ExAC gnomAD
rs775836909 CA9309232	846	V>I		No	ClinGen ExAC TOPMed gnomAD
rs765575156 CA9309231	847	E>G		No	ClinGen ExAC TOPMed gnomAD
rs759644560 CA9309230	848	S>C		No	ClinGen ExAC TOPMed gnomAD
CA404831120 rs1444597864	848	S>P		No	ClinGen gnomAD
TCGA novel	849	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771408989 CA9309228	849	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA404831100 rs1568278465	850	G>R		No	ClinGen Ensembl
rs1377731946 CA404831086	851	D>N		No	ClinGen gnomAD
rs978963593 CA306192198	852	N>D		No	ClinGen gnomAD
rs139792330 CA9309227	852	N>S		No	ClinGen ESP ExAC gnomAD
CA9309225 CA9309224 rs150764416	853	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	854	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA404831052 rs1600125146	854	A>V		No	ClinGen Ensembl
rs115767872 CA9309223	855	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309221 rs148262698	856	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309222 rs148262698	856	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs61733990 CA9309220	856	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404831036 rs1486617892	857	A>S		No	ClinGen gnomAD
CA404831005 rs1209201041	859	P>S		No	ClinGen gnomAD
rs1600125076 CA404830959	861	M>I		No	ClinGen Ensembl
CA306192181 rs1035007643	862	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	863	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9309218 rs142351726	863	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137899214 CA9309217	864	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201006946 CA9309216	865	A>V		No	ClinGen ExAC gnomAD
CA9309213 rs759849232	866	V>L		No	ClinGen ExAC TOPMed gnomAD
rs759849232 CA9309214	866	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1346216475 CA404830848	868	C>*		No	ClinGen TOPMed gnomAD
rs1447911393 CA404830854	868	C>S		No	ClinGen gnomAD
rs1320687741 CA404830841	869	Q>E		No	ClinGen gnomAD
rs766363898 CA9309211	871	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA9309210 rs375296011	872	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA404830792 rs1387380500	872	T>P		No	ClinGen gnomAD
rs1188811667 CA404824377	874	P>S		No	ClinGen gnomAD
CA404824357 rs61740684	875	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309074 rs145333989	875	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309073 rs61740684	875	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	876	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358479282 CA404824312	877	A>G		No	ClinGen gnomAD
CA404824318 rs1242453735	877	A>T		No	ClinGen TOPMed gnomAD
CA306187853 rs374456219	878	G>D		No	ClinGen gnomAD
CA404824309 rs1436176428	878	G>S		No	ClinGen TOPMed gnomAD
CA306187852 rs751553397	879	V>A		No	ClinGen gnomAD
rs1295820472 CA404824277	880	V>F		No	ClinGen TOPMed gnomAD
rs777447874 CA9309070	881	G>R		No	ClinGen ExAC gnomAD
CA404824265 rs777447874	881	G>S		No	ClinGen ExAC gnomAD
CA9309069 rs138479193	884	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404824153 rs1191979254	885	W>C		No	ClinGen gnomAD
rs1297107743 CA404824171	885	W>R		No	ClinGen gnomAD
CA9309066 rs754885911	886	N>S		No	ClinGen ExAC gnomAD
rs754885911 CA404824134	886	N>T		No	ClinGen ExAC gnomAD
rs61746498 CA9309065	887	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309064 rs141048177	887	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1230306586 CA404824097	888	A>E		No	ClinGen gnomAD
rs764440191 CA9309062	888	A>S		No	ClinGen ExAC gnomAD
rs764440191 CA9309061	888	A>T		No	ClinGen ExAC gnomAD
CA404824083 rs1600115698	889	W>G		No	ClinGen Ensembl
TCGA novel	892	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1268666299 CA404824008	892	A>V		No	ClinGen gnomAD
CA404823979 rs1226906025	894	G>C		No	ClinGen gnomAD
rs1037737745 CA306187784	894	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1226906025 CA404823983	894	G>S		No	ClinGen gnomAD
rs562281652 CA9309058	896	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs777239212 CA9309056	897	S>C		No	ClinGen ExAC TOPMed gnomAD
CA404823900 rs866301236	899	D>A		No	ClinGen TOPMed gnomAD
CA306187774 rs866301236	899	D>G		No	ClinGen TOPMed gnomAD
CA306187770 rs940767539	900	T>I		No	ClinGen TOPMed gnomAD
rs940767539 CA404823888	900	T>N		No	ClinGen TOPMed gnomAD
rs771181646 CA9309055	901	W>R		No	ClinGen ExAC TOPMed gnomAD
COSM1741273 CA9309054 rs147742506	902	R>C	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs145710367 CA306187767	902	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs145710367 CA9309053	902	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs771718803 CA9309052	905	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9309050 rs778273213	906	V>M		No	ClinGen ExAC gnomAD
rs999813 VAR_023422 CA9309048	908	P>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs754556051 CA9309049	908	P>T		No	ClinGen ExAC gnomAD
rs780062310 CA9309046	909	P>L		No	ClinGen ExAC gnomAD
rs200854042 CA306187747	910	R>G		No	ClinGen TOPMed
CA9309045 rs755823313	910	R>S		No	ClinGen ExAC
CA404823704 rs764350386	911	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9309043 rs764350386	911	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9309044 rs369547269	911	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1276741618 CA404823686	912	S>F		No	ClinGen gnomAD
CA9309041 rs148731495	913	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404823629 rs1412159925	914	E>D		No	ClinGen gnomAD
rs931957387 CA306187730	914	E>K		No	ClinGen TOPMed
rs765203820 CA9309040	915	P>A		No	ClinGen ExAC gnomAD
rs1328595853 CA404823607	915	P>Q		No	ClinGen gnomAD
rs759714402 CA9309039	916	M>V		No	ClinGen ExAC TOPMed gnomAD
CA404823544 rs145253174	918	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs145253174 CA9309037	918	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309036 rs149717151	919	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA404823517 rs1184273819	920	Q>*		No	ClinGen TOPMed gnomAD
CA404823488 rs1468534146	921	A>S		No	ClinGen gnomAD
CA404823494 rs1468534146	921	A>T		No	ClinGen gnomAD
CA404823474 rs1287365839	922	A>S		No	ClinGen TOPMed
CA404823470 rs1287365839	922	A>T		No	ClinGen TOPMed
CA9309035 rs558467680	922	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs772484302 CA9309034	925	I>N		No	ClinGen ExAC gnomAD
CA9309033 rs371327963	926	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA306187695 rs778676149	926	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778676149 CA9309032	926	R>L		No	ClinGen ExAC TOPMed gnomAD
rs61740685 CA9309029	929	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA306187688 rs982546551	929	A>V		No	ClinGen TOPMed
CA9309027 rs367852275	930	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309028 rs142699664	930	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9309026 rs555957281	933	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA306187652 rs866755470	934	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs373473615 CA9309024	934	Q>H		No	ClinGen ESP ExAC gnomAD
CA9309023 rs139430406	935	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766738927 CA9309020	936	G>D		No	ClinGen ExAC gnomAD
rs753958999 CA9309021	936	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1163731555 CA404823177	937	V>I		No	ClinGen TOPMed gnomAD
COSM1148122 CA9309018 rs146173511	938	R>C	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs201236365 CA9309017	938	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs571251149 CA9309016	939	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1238468324 CA404823114	941	L>P		No	ClinGen TOPMed
CA9309015 rs773833908	942	A>V		No	ClinGen ExAC TOPMed gnomAD
CA9309014 rs375802609	943	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA9309013 rs775048704	943	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9309012 rs775048704	943	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1016638201 CA306187567	944	R>C		No	ClinGen TOPMed gnomAD
CA9309010 rs200997372	944	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs886492298 CA306187514	945	R>S		No	ClinGen gnomAD
rs141150778 CA9309007	947	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309009 rs202121427	947	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1365450136 CA404822948	949	W>*		No	ClinGen gnomAD
CA404822964 rs1162175511	949	W>R		No	ClinGen TOPMed gnomAD
rs1419276195 CA404822923	950	H>L		No	ClinGen TOPMed gnomAD
rs778939133 CA9309006	950	H>N		No	ClinGen ExAC TOPMed gnomAD
CA404822918 rs1428081532	950	H>Q		No	ClinGen gnomAD
rs754066617 CA9309004	951	R>G		No	ClinGen ExAC TOPMed gnomAD
rs61740688 CA9309003	951	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754066617 CA9309005	951	R>W	Variant assessed as Somatic; 4.736e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	953	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781149862	953	A>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs371797461 CA9309002	953	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA9309000 rs768042747	954	M>K		No	ClinGen ExAC gnomAD
rs768042747 CA9308999	954	M>T		No	ClinGen ExAC gnomAD
rs1390985540 CA404822800	955	V>I		No	ClinGen gnomAD
rs762097343 CA9308998	956	I>V		No	ClinGen ExAC gnomAD
TCGA novel	957	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9308997 rs774790838	957	Q>R		No	ClinGen ExAC gnomAD
CA9308995 rs775040944	959	T>I		No	ClinGen ExAC TOPMed gnomAD
CA9308994 rs775040944	959	T>S		No	ClinGen ExAC TOPMed gnomAD
CA306187473 rs932036878	961	R>C		No	ClinGen TOPMed gnomAD
CA9308993 rs769410268	961	R>H		No	ClinGen ExAC TOPMed gnomAD
CA9308991 rs776672740	962	G>S		No	ClinGen ExAC TOPMed gnomAD
CA404822563 rs1343273773	963	Y>F		No	ClinGen gnomAD
CA9308990 rs143099659	964	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9308989 rs746725866	964	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1199379441 CA404822516	965	V>M		No	ClinGen TOPMed
CA9308987 rs149613489	966	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs777612220 CA9308988	966	R>W		No	ClinGen ExAC TOPMed gnomAD
CA9308985 rs201837174	967	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404822482 rs1302354266	967	R>Q		No	ClinGen TOPMed gnomAD
CA9308986 rs201837174	967	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1430201957 CA404822402	969	L>M		No	ClinGen TOPMed gnomAD
CA404822385 rs1568274745	970	A>T		No	ClinGen Ensembl
CA404822340 rs1172820882	971	H>P		No	ClinGen gnomAD
CA404822337 rs1172820882	971	H>R		No	ClinGen gnomAD
CA9308984 rs756145687	971	H>Y		No	ClinGen ExAC gnomAD
rs928353401 CA306187415	974	R>G		No	ClinGen Ensembl
rs757767341 CA9308981	974	R>T		No	ClinGen ExAC gnomAD
CA9308980 rs752070276	975	A>T		No	ClinGen ExAC gnomAD
CA9308978 rs548738319	977	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376842829 CA306187382	979	I>T		No	ClinGen ESP
rs1328583528 CA404822141	983	W>G		No	ClinGen TOPMed
CA9308975 rs528994641	984	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404822101 rs1202088585	984	R>H		No	ClinGen gnomAD
rs776297454 CA9308973	985	G>S		No	ClinGen ExAC gnomAD
CA404822059 rs1343049101	986	Y>C		No	ClinGen gnomAD
rs371883594 CA9308972	986	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA9308971 rs760658438	987	S>N		No	ClinGen ExAC gnomAD
rs1352099366 CA404821999	988	T>A		No	ClinGen gnomAD
CA9308969 rs771879301	988	T>I		No	ClinGen ExAC gnomAD
CA9308968 rs747925264	989	R>C		No	ClinGen ExAC TOPMed gnomAD
rs780183473 CA9308967 COSM1212269	989	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770013930 CA9308966	990	R>G		No	ClinGen ExAC gnomAD
rs201787146 CA9308965	990	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770013930 CA306187335	990	R>W		No	ClinGen ExAC gnomAD
rs1600114628 CA404821920	992	Q>E		No	ClinGen Ensembl
CA9308964 rs370732102	993	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs147110090 CA9308962	994	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA9308963 rs757318822	994	R>W		No	ClinGen ExAC TOPMed gnomAD
rs758753850 CA9308960	995	H>D		No	ClinGen ExAC gnomAD
rs758753850 CA9308961	995	H>N		No	ClinGen ExAC gnomAD
rs764928668 CA9308958	995	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA9308959 rs564811766	995	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs758753850 CA404821860	995	H>Y		No	ClinGen ExAC gnomAD
rs368931841 CA404821807	996	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs368931841 CA9308957	996	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs753614518 CA9308956	998	M>I		No	ClinGen ExAC gnomAD
CA404821726 rs1261892727	1000	H>D		No	ClinGen gnomAD
CA404821719 rs1228997680	1000	H>P		No	ClinGen gnomAD
rs112806595 CA9308955	1000	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1568274581 CA404821700	1001	P>S		No	ClinGen Ensembl
rs61740687 CA9308953	1002	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200108547 CA9308952	1003	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404821590 rs1454723817	1006	E>V		No	ClinGen gnomAD
rs1387681527 CA404821543	1009	S>N		No	ClinGen TOPMed
rs768504480 CA404821530	1010	R>G		No	ClinGen ExAC TOPMed gnomAD
rs768080066 CA9308947	1010	R>P		No	ClinGen ExAC TOPMed gnomAD
CA9308948 rs768080066	1010	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768504480 CA9308949	1010	R>W	Variant assessed as Somatic; 4.711e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs151062801 CA9308945	1012	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs553412927 CA9308944	1012	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA9308942 rs753316451	1014	M>T		No	ClinGen ExAC TOPMed gnomAD
rs758844409 CA9308943	1014	M>V		No	ClinGen ExAC TOPMed gnomAD
rs755435471 CA9308940	1015	S>F		No	ClinGen ExAC TOPMed gnomAD
CA9308941 rs779415782	1015	S>P		No	ClinGen ExAC gnomAD
CA9308939 rs753518692	1017	R>*		No	ClinGen ExAC TOPMed gnomAD
rs753518692 CA306187200	1017	R>G		No	ClinGen ExAC TOPMed gnomAD
rs374558950 CA9308938	1017	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486424045 CA404821317	1019	W>*		No	ClinGen TOPMed
rs370292091 CA306187181	1023	G>S		No	ClinGen ESP gnomAD
rs867679732 CA306187176	1025	A>S		No	ClinGen gnomAD
rs375582637 CA9308936	1028	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA9308935 rs767111124	1032	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761733054 COSM1212278 CA9308934	1032	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1163365305 CA404820964	1034	F>Y		No	ClinGen TOPMed
CA404820940 rs1345168594	1035	Q>R		No	ClinGen gnomAD
rs1382681400 CA404820908	1036	S>Y		No	ClinGen TOPMed
rs1382875655 CA404820895	1037	C>S		No	ClinGen gnomAD
rs934933343 CA306187164	1038	Q>H		No	ClinGen Ensembl
TCGA novel	1039	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs112108230 CA404820799	1041	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs112108230 CA9308933	1041	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1402885323 CA404820770	1043	S>G		No	ClinGen gnomAD
CA404820764 rs1600114255	1043	S>N		No	ClinGen Ensembl
CA9308931 rs762754562	1044	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776877184 CA404820684	1046	H>L		No	ClinGen ExAC TOPMed gnomAD
CA9308930 rs776877184	1046	H>R		No	ClinGen ExAC TOPMed gnomAD
rs772261792 CA9308926	1053	G>R		No	ClinGen ExAC TOPMed gnomAD
rs748635735 CA9308925	1055	P>L		No	ClinGen ExAC TOPMed gnomAD
rs748635735 CA404820477	1055	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs183169668 CA404820435	1058	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9308922 rs183169668	1058	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404820416 rs1314657412	1059	V>L		No	ClinGen gnomAD
rs1328280548 CA404820383	1060	M>T		No	ClinGen gnomAD
CA9308920 rs755706740	1061	L>P		No	ClinGen ExAC gnomAD
rs568776092 CA9308918	1062	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs750154943 CA404820365	1062	V>L		No	ClinGen ExAC TOPMed gnomAD
rs750154943 CA9308919	1062	V>M		No	ClinGen ExAC TOPMed gnomAD
CA404820345 rs1240607080	1063	G>D		No	ClinGen TOPMed
CA9308916 rs139912303	1067	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA9308915 rs548939159	1067	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA404820259 rs139912303	1067	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370902558 CA404820219	1068	T>I		No	ClinGen gnomAD
CA9308912 rs765140713	1069	C>R		No	ClinGen ExAC TOPMed gnomAD
CA404820165 rs1464641569	1070	H>L		No	ClinGen TOPMed
CA404820142 rs1197125650	1071	T>N		No	ClinGen gnomAD
rs1270997243 CA404820154	1071	T>P		No	ClinGen gnomAD
rs1274994955 CA404820110	1072	C>S		No	ClinGen gnomAD
CA9308910 rs144107214	1074	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA306187046 rs144107214	1074	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA9308909 rs772258185	1074	R>H		No	ClinGen ExAC TOPMed gnomAD
CA306187038 rs772258185	1074	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA404820048 rs1226741260	1075	T>A		No	ClinGen TOPMed gnomAD
rs748261381 CA9308908	1075	T>I		No	ClinGen ExAC gnomAD
rs774959801 CA9308907	1076	Q>*		No	ClinGen ExAC gnomAD
rs78932733 CA9308906	1078	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749864376 CA9308905	1079	R>C		No	ClinGen ExAC TOPMed gnomAD
CA404819957 rs749864376	1079	R>G		No	ClinGen ExAC TOPMed gnomAD
rs780275711 CA9308904	1079	R>H		No	ClinGen ExAC TOPMed gnomAD
rs749864376 CA404819960	1079	R>S		No	ClinGen ExAC TOPMed gnomAD
rs756541068 CA9308902	1080	V>M		No	ClinGen ExAC gnomAD
rs1600113854 CA404819920	1081	V>M		No	ClinGen Ensembl
CA404819865 rs1430715533	1083	G>C		No	ClinGen gnomAD
rs377125885 CA9308899	1084	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA9308898 rs763965202	1084	M>R		No	ClinGen ExAC gnomAD
CA9308897 rs763965202	1084	M>T		No	ClinGen ExAC gnomAD
CA9308900 rs377125885	1084	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA404819824 rs1312699534	1085	G>C		No	ClinGen TOPMed gnomAD
rs1233299990 CA404819817	1085	G>V		No	ClinGen gnomAD
CA404819800 rs1183692211	1086	Q>R		No	ClinGen gnomAD
TCGA novel	1087	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA9308896 rs758321753	1087	G>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1087	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1053726901 CA306186932	1088	T>I		No	ClinGen gnomAD
CA9308895 rs752749634	1090	G>D		No	ClinGen ExAC TOPMed gnomAD
rs947889138 CA306186912	1092	G>R		No	ClinGen TOPMed gnomAD
CA404819672 rs1280552113	1092	G>V		No	ClinGen gnomAD
CA404819655 rs1334297753	1093	A>S		No	ClinGen gnomAD
CA306186907 rs915635979	1094	V>G		No	ClinGen Ensembl
CA9308891 rs767883843	1095	S>F		No	ClinGen ExAC TOPMed gnomAD
CA9308890 rs61740691	1096	W>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452823806 CA404819597	1096	W>R		No	ClinGen gnomAD
CA404819569 rs1173616639	1097	A>V		No	ClinGen gnomAD
CA9308889 rs199593511	1099	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA404819432 rs1468422669	1104	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA9308888 rs768921785	1104	A>V		No	ClinGen ExAC gnomAD
CA9308886 rs150551510	1105	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1461932430 CA404819402	1105	L>P		No	ClinGen gnomAD
rs770002052 CA9308885	1107	P>S		No	ClinGen ExAC TOPMed gnomAD
CA9308884 rs746271106	1109	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA9308883 rs780752844	1110	P>L		No	ClinGen ExAC TOPMed gnomAD
CA404819308 rs1246328320	1111	H>Q		No	ClinGen gnomAD
rs139487168 CA9308880	1111	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746725575 CA9308881	1111	H>Y		No	ClinGen ExAC gnomAD
CA9308879 rs757947773	1112	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757947773 CA404819305	1112	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9308878 rs562355836	1112	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404819302 rs562355836	1112	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA9308875 rs753673342	1114	D>N		No	ClinGen ExAC TOPMed gnomAD
rs150530092 CA9308874	1115	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs141700088 CA9308873	1116	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764246104 CA9308869	1118	T>I		No	ClinGen ExAC gnomAD
CA9308870 rs117511354	1118	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA306186800 rs952830592	1119	A>P		No	ClinGen Ensembl
rs763112620 CA9308868	1122	S>P		No	ClinGen ExAC gnomAD
CA404819184 rs1472515427	1122	S>Y		No	ClinGen gnomAD
rs138028745 CA9308866	1123	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA404819148 rs1293201814	1125	R>G		No	ClinGen TOPMed gnomAD
rs1293201814 CA404819146	1125	R>W		No	ClinGen TOPMed gnomAD
CA9308863 rs771357004	1126	G>A		No	ClinGen ExAC gnomAD
rs1229322649 CA404819116	1127	F>S		No	ClinGen TOPMed
CA9308862 rs192651551	1130	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA9308861 rs555838735	1130	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA404819059 rs1488060656	1131	Q>R		No	ClinGen TOPMed
CA9308860 rs115702747	1133	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1271419251 CA404819026	1133	M>R		No	ClinGen gnomAD
rs1191614104 CA404819030	1133	M>V		No	ClinGen TOPMed
CA9308859 rs535911820	1134	R>G		No	ClinGen ExAC TOPMed gnomAD
CA9308857 rs778651015	1135	Q>*		No	ClinGen ExAC gnomAD
rs1363424438 CA404818992	1136	Q>*		No	ClinGen TOPMed gnomAD
rs754928898 CA9308856	1138	M>T		No	ClinGen ExAC gnomAD
rs753892078 CA9308855	1139	A>S		No	ClinGen ExAC gnomAD
rs139341013 CA9308854	1139	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs200482859 CA9308853	1140	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA9308852 rs61740689	1142	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA404818945 rs1568273888	1143	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1490944670 CA404818915	1147	W>*		No	ClinGen gnomAD
rs367982069 CA306186723	1148	R>*		No	ClinGen ESP TOPMed gnomAD
CA404818912 rs367982069	1148	R>G		No	ClinGen ESP TOPMed gnomAD
CA9308851 rs764438261	1148	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA404818880 rs760086120	1153	R>L		No	ClinGen ExAC TOPMed gnomAD
CA9308847 rs760086120	1153	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA9308848 rs201206053	1153	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1302285855 CA404818876	1154	S>N		No	ClinGen gnomAD
CA9308846 rs777166271	1154	S>R		No	ClinGen ExAC gnomAD
rs766711510 CA9308845	1155	C>R		No	ClinGen ExAC gnomAD
CA306186702 rs933832268	1157	K>N		No	ClinGen Ensembl
CA9308843 rs200583656	1161	A>E		No	ClinGen ExAC TOPMed gnomAD
CA9308844 rs200583656	1161	A>V		No	ClinGen ExAC TOPMed gnomAD
rs386807483 CA306186694	1163	L>K		No	ClinGen Ensembl
CA404818819 rs1422936139	1163	L>V		No	ClinGen gnomAD
rs1280984908 CA404818813	1164	G>R		No	ClinGen TOPMed
rs1481699374 CA404818802	1165	P>L		No	ClinGen TOPMed gnomAD
CA9308841 rs747555648	1166	A>P		No	ClinGen ExAC TOPMed gnomAD
CA404818801 rs747555648	1166	A>T		No	ClinGen ExAC TOPMed gnomAD
rs375163242 CA9308839	1169	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs375255878 CA9308837	1170	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1229945670 CA404818768	1171	S>N		No	ClinGen Ensembl
rs200030980 CA9308834	1173	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370689292 CA9308835	1173	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218820363 CA404817443	1175	M>I		No	ClinGen gnomAD
rs777797736 CA9308833	1177	W>C		No	ClinGen ExAC gnomAD
rs758630917 CA9308832	1178	P>R		No	ClinGen ExAC gnomAD
CA404817397 rs1224160039	1178	P>S		No	ClinGen gnomAD
CA9308831 rs752932802	1179	G>A		No	ClinGen ExAC gnomAD
rs61740699 CA9308829	1180	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61740699 CA9308830	1180	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1337446051 CA632086525	1181	I>L		No	ClinGen gnomAD

No associated diseases with Q9H0B3

3 regional properties for Q9H0B3

Type	Name	Position	InterPro Accession
binding_site	IQ motif, EF-hand binding site	102 - 132	IPR000048-1
binding_site	IQ motif, EF-hand binding site	925 - 1001	IPR000048-2
binding_site	IQ motif, EF-hand binding site	1112 - 1165	IPR000048-3

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
mitochondrion	A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MTLQGRADLS	GNQGNAAGRL	ATVHEPVVTQ	WAVHPPAPAH	PSLLDKMEKA	PPQPQHEGLK
70	80	90	100	110	120
SKEHLPQQPA	EGKTASRRVP	RLRAVVESQA	FKNILVDEMD	MMHARAATLI	QANWRGYWLR
130	140	150	160	170	180
QKLISQMMAA	KAIQEAWRRF	NKRHILHSSK	SLVKKTRAEE	GDIPYHAPQQ	VRFQHPEENR
190	200	210	220	230	240
LLSPPIMVNK	ETQFPSCDNL	VLCRPQSSPL	LQPPAAQGTP	EPCVQGPHAA	RVRGLAFLPH
250	260	270	280	290	300
QTVTIRFPCP	VSLDAKCQPC	LLTRTIRSTC	LVHIEGDSVK	TKRVSARTNK	ARAPETPLSR
310	320	330	340	350	360
RYDQAVTRPS	RAQTQGPVKA	ETPKAPFQIC	PGPMITKTLL	QTYPVVSVTL	PQTYPASTMT
370	380	390	400	410	420
TTPPKTSPVP	KVTIIKTPAQ	MYPGPTVTKT	APHTCPMPTM	TKIQVHPTAS	RTGTPRQTCP
430	440	450	460	470	480
ATITAKNRPQ	VSLLASIMKS	LPQVCPGPAM	AKTPPQMHPV	TTPAKNPLQT	CLSATMSKTS
490	500	510	520	530	540
SQRSPVGVTK	PSPQTRLPAM	ITKTPAQLRS	VATILKTLCL	ASPTVANVKA	PPQVAVAAGT
550	560	570	580	590	600
PNTSGSIHEN	PPKAKATVNV	KQAAKVVKAS	SPSYLAEGKI	RCLAQPHPGT	GVPRAAAELP
610	620	630	640	650	660
LEAEKIKTGT	QKQAKTDMAF	KTSVAVEMAG	APSWTKVAEE	GDKPPHVYVP	VDMAVTLPRG
670	680	690	700	710	720
QLAAPLTNAS	SQRHPPCLSQ	RPLAAPLTKA	SSQGHLPTEL	TKTPSLAHLD	TCLSKMHSQT
730	740	750	760	770	780
HLATGAVKVQ	SQAPLATCLT	KTQSRGQPIT	DITTCLIPAH	QAADLSSNTH	SQVLLTGSKV
790	800	810	820	830	840
SNHACQRLGG	LSAPPWAKPE	DRQTQPQPHG	HVPGKTTQGG	PCPAACEVQG	MLVPPMAPTG
850	860	870	880	890	900
HSTCNVESWG	DNGATRAQPS	MPGQAVPCQE	DTGPADAGVV	GGQSWNRAWE	PARGAASWDT
910	920	930	940	950	960
WRNKAVVPPR	RSGEPMVSMQ	AAEEIRILAV	ITIQAGVRGY	LARRRIRLWH	RGAMVIQATW
970	980	990	1000	1010	1020
RGYRVRRNLA	HLCRATTTIQ	SAWRGYSTRR	DQARHWQMLH	PVTWVELGSR	AGVMSDRSWF
1030	1040	1050	1060	1070	1080
QDGRARTVSD	HRCFQSCQAH	ACSVCHSLSS	RIGSPPSVVM	LVGSSPRTCH	TCGRTQPTRV
1090	1100	1110	1120	1130	1140
VQGMGQGTEG	PGAVSWASAY	QLAALSPRQP	HRQDKAATAI	QSAWRGFKIR	QQMRQQQMAA
1150	1160	1170
KIVQATWRGH	HTRSCLKNTE	ALLGPADPSA	SSRHMHWPGI