AiPD: Autoinhibited Protein Database

Q6IQ26

Gene name	DENND5A (KIAA1091, RAB6IP1)
Protein name	DENN domain-containing protein 5A
Names	Rab6-interacting protein 1, Rab6IP1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23258
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

678-757 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

678-757 (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 Q6IQ26

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q6IQ26-F1	Predicted				AlphaFoldDB

1166 variants for Q6IQ26

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000415577 rs1057519307	173	D>missing	Developmental and epileptic encephalopathy, 49 [ClinVar]	Yes	ClinVar dbSNP
RCV001839011 CA5877605 RCV000519555 RCV000624595 RCV001263395 rs146646020	485	K>E	Intellectual disability Developmental and epileptic encephalopathy, 49 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_078555 CA16043979 RCV000415550 rs1057519309	541	D>G	Developmental and epileptic encephalopathy, 49 DEE49; unknown pathological significance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001333830 CA379612173 rs1392402979 RCV002546652	647	D>G	Developmental and epileptic encephalopathy, 49 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA5877424 RCV002532825 RCV000623720 rs143720019	710	R>H	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1848175647 RCV001333831	730	I>T	Developmental and epileptic encephalopathy, 49 [ClinVar]	Yes	ClinVar dbSNP
RCV002521497 CA16044344 COSM239558 rs1057519563 RCV000416961	772	R>*	prostate Developmental and epileptic encephalopathy, 49 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar dbSNP gnomAD
RCV000415606 rs1057519308	850	K>missing	Developmental and epileptic encephalopathy, 49 [ClinVar]	Yes	ClinVar dbSNP
rs1162225544 RCV001328868 CA379603931	970	M>L	Developmental and epileptic encephalopathy, 49 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs372389104 RCV001333832	1023	K>I	Developmental and epileptic encephalopathy, 49 [ClinVar]	Yes	ClinVar dbSNP
rs780628819 CA5877026 RCV000523037 COSM1357697 RCV002525152	1159	R>W	large_intestine Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs1057519564 RCV000416977 CA16044345	1210	R>Q	Developmental and epileptic encephalopathy, 49 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1057519310 RCV000415582	1271	Q>missing	Developmental and epileptic encephalopathy, 49 [ClinVar]	Yes	ClinVar dbSNP
rs768423122 CA5877938	4	G>S		No	ClinGen ExAC TOPMed gnomAD
CA379602101 rs1450643261	6	G>S		No	ClinGen gnomAD
rs1554939288 CA379602089	7	G>*		No	ClinGen Ensembl
CA379602069 rs1407370979	8	G>V		No	ClinGen gnomAD
CA379602064 rs1336292880	9	G>C		No	ClinGen TOPMed gnomAD
CA5877934 rs564829495	9	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA379602060 rs564829495	9	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA217562229 rs867335617	10	S>*		No	ClinGen gnomAD
rs867335617 CA379602048	10	S>L		No	ClinGen gnomAD
rs745845649 CA5877932	12	P>L		No	ClinGen ExAC gnomAD
rs1428989428 CA379602034	12	P>S		No	ClinGen gnomAD
rs1446217010 CA379602024	13	S>G		No	ClinGen gnomAD
rs1189911645 CA379601985	14	R>G		No	ClinGen TOPMed
CA5877929 rs753516279	15	F>L		No	ClinGen ExAC gnomAD
CA379601912 rs1459726583	16	A>S		No	ClinGen TOPMed gnomAD
CA379601917 rs1459726583	16	A>T		No	ClinGen TOPMed gnomAD
rs1409408945 CA379601906	16	A>V		No	ClinGen TOPMed
rs1307362272 CA379601859	18	Y>C		No	ClinGen gnomAD
rs1314826897 CA379601635	24	L>Q		No	ClinGen gnomAD
CA5877927 rs755833724	25	D>G		No	ClinGen ExAC gnomAD
CA379601561 rs1461539868	26	T>M		No	ClinGen gnomAD
rs766871594 CA5877925	26	T>P		No	ClinGen ExAC gnomAD
RCV000888136 CA5877924 rs202226768	27	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1168208885 CA379601543	27	E>K		No	ClinGen TOPMed gnomAD
CA379601494 rs200062493	28	T>I		No	ClinGen TOPMed gnomAD
rs200062493 CA217562174	28	T>S		No	ClinGen TOPMed gnomAD
rs1554939257 CA379601434	31	E>*		No	ClinGen Ensembl
rs773629700 CA379601415	32	P>A		No	ClinGen ExAC TOPMed gnomAD
rs773629700 CA5877923	32	P>S		No	ClinGen ExAC TOPMed gnomAD
rs761852742 CA379601342	34	E>*		No	ClinGen ExAC gnomAD
CA379601340 rs1590358490	34	E>A		No	ClinGen Ensembl
CA5877921 rs761852742	34	E>K		No	ClinGen ExAC gnomAD
CA217562150 rs1015263045	35	L>V		No	ClinGen TOPMed
rs1225313687 CA379601294	36	S>*		No	ClinGen gnomAD
rs1225313687 CA379601293	36	S>W		No	ClinGen gnomAD
rs1360816196 CA379601287	37	A>T		No	ClinGen gnomAD
rs1428046114 CA379603535	37	A>V		No	ClinGen gnomAD
rs1554925952 CA379603494	39	C>*		No	ClinGen Ensembl
rs1197857475 CA379603501	39	C>Y		No	ClinGen gnomAD
rs1554925951 CA379603487	40	Q>*		No	ClinGen Ensembl
rs1171599889 CA379603473	40	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777398710 CA5877893	41	Y>D		No	ClinGen ExAC gnomAD
rs147701869 CA379603445	42	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5877892 rs147701869	42	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5877891 rs747796744	43	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA5877889 rs145424684	48	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1405719973 CA379603345	49	D>E		No	ClinGen TOPMed
rs1204617174 CA379603357	49	D>N		No	ClinGen gnomAD
CA5877888 rs377212650	50	G>R		No	ClinGen ESP ExAC gnomAD
CA379603342 rs377212650	50	G>S		No	ClinGen ESP ExAC gnomAD
rs1281486638 CA379603313	52	S>C		No	ClinGen gnomAD
CA379603293 rs1472591539	53	P>H		No	ClinGen TOPMed gnomAD
CA379603296 rs1183336505	53	P>S		No	ClinGen gnomAD
rs779362007 CA5877887	55	I>V		No	ClinGen ExAC gnomAD
CA217549451 rs370435377	57	S>N		No	ClinGen ESP TOPMed gnomAD
CA5877886 rs140469660	58	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA379603175 rs1386258028	59	T>A		No	ClinGen gnomAD
rs1554925915 CA379603166	60	E>*		No	ClinGen Ensembl
CA379603153 rs1554925909	61	G>*		No	ClinGen Ensembl
CA379602956 rs1554925786	62	E>*		No	ClinGen Ensembl
CA379602880 rs1554925783	65	E>*		No	ClinGen Ensembl
rs1554925782 CA379602851	66	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1489836030 CA379602787	68	P>S		No	ClinGen TOPMed
CA379602764 rs1554925777	69	L>*		No	ClinGen Ensembl
rs1554925771 CA379602752	70	R>*		No	ClinGen Ensembl
CA379602735 rs1554925769	71	R>*		No	ClinGen Ensembl
CA379602715 rs1412140683	72	T>S		No	ClinGen gnomAD
CA217549080 rs1027024601 CA379602689	73	F>L		No	ClinGen gnomAD
rs1554925762 CA379602686	74	K>*		No	ClinGen Ensembl
CA379602650 rs1554925761	76	K>*		No	ClinGen Ensembl
CA5877865 rs757710217	80	R>*		No	ClinGen ExAC gnomAD
rs1180128752 CA379602596	80	R>Q		No	ClinGen gnomAD
rs1554925756 CA379602558	83	E>*		No	ClinGen Ensembl
rs201015332 CA5877864	84	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV001009257 rs1590275695	85	V>missing		No	ClinVar dbSNP
rs201529317 CA5877861	85	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5877862 rs375955901 COSM1492706	85	V>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767660814 CA379602509	86	E>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	86	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751846607 CA5877858	86	E>D		No	ClinGen ExAC gnomAD
CA379602505 rs1287518966	86	E>G		No	ClinGen gnomAD
CA5877860 rs767660814	86	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs866152172 CA217549051	87	W>*		No	ClinGen Ensembl
CA379602492 rs1554925746	87	W>*		No	ClinGen Ensembl
rs1278370434 CA379602424	91	D>E		No	ClinGen gnomAD
CA379602409 rs762899480	92	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA5877856 rs762899480	92	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs541367599 CA217549044	92	Q>H		No	ClinGen 1000Genomes
TCGA novel	92	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5877855 rs773154108	93	D>G		No	ClinGen ExAC gnomAD
CA379602350 rs1554925731	96	G>*		No	ClinGen Ensembl
rs202034627 CA217549039	97	M>V		No	ClinGen 1000Genomes
CA379600569 rs1473172320	99	C>*		No	ClinGen TOPMed gnomAD
rs766565323 CA5877839	100	M>I		No	ClinGen ExAC gnomAD
CA217548003 rs368882573	101	P>L		No	ClinGen ESP gnomAD
rs1475604621 CA379600553	102	K>E		No	ClinGen gnomAD
CA379600542 rs1353370025	103	G>A		No	ClinGen TOPMed
CA5877837 rs750199281	105	A>S		No	ClinGen ExAC gnomAD
rs938418383 COSM1135268 CA217547994	105	A>V	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA379600512 rs1208824165	106	F>L		No	ClinGen gnomAD
CA379600506 rs1554925300	107	K>*		No	ClinGen Ensembl
rs200526777 CA5877836	107	K>R		No	ClinGen ExAC gnomAD
rs776667845 CA5877834	108	T>I		No	ClinGen ExAC gnomAD
rs763501089 CA379600483	109	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs763501089 CA5877833	109	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA217547985 rs191471281	110	A>T		No	ClinGen 1000Genomes
CA217547982 rs924346711	111	D>N		No	ClinGen gnomAD
TCGA novel	112	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866866666 CA217547979	112	P>T		No	ClinGen Ensembl
rs1554925276 CA379600412	114	E>*		No	ClinGen Ensembl
TCGA novel rs977123203 CA217547973 RCV001090227	114	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ClinVar dbSNP gnomAD
CA5877832 rs760178089	115	P>T		No	ClinGen ExAC gnomAD
rs1554925265 CA379600387	116	Q>*		No	ClinGen Ensembl
rs771673860 CA379600376	116	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs186761148 CA5877831	116	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
CA5877828 rs773544916	118	H>R		No	ClinGen ExAC gnomAD
CA379600277 rs1166496945	123	T>R		No	ClinGen gnomAD
rs781750501 CA5877825	125	E>*		No	ClinGen ExAC gnomAD
TCGA novel	127	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180985718 COSM122555 CA379600199	129	R>Q	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5877824 rs769056176	134	A>T		No	ClinGen ExAC TOPMed
CA5877822 rs780024378	135	L>F		No	ClinGen ExAC TOPMed gnomAD
rs142461946 CA5877821	135	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780024378 CA5877823	135	L>V		No	ClinGen ExAC TOPMed gnomAD
rs757179752 CA5877818	138	Y>F		No	ClinGen ExAC gnomAD
CA379600114 rs1554925231	139	E>*		No	ClinGen Ensembl
CA379600106 rs1554925228	140	E>*		No	ClinGen Ensembl
rs1259986823 CA379600091	142	T>I		No	ClinGen TOPMed
CA379600078 rs1554925223	144	K>*		No	ClinGen Ensembl
CA379600070 rs1554925219	145	Q>*		No	ClinGen Ensembl
rs1007983783 CA217547893	146	I>F		No	ClinGen Ensembl
CA379600025 rs1554925211	147	C>*		No	ClinGen Ensembl
rs1554925209 CA379599960	151	Q>*		No	ClinGen Ensembl
rs1375570953 CA379599935	152	T>I		No	ClinGen gnomAD
TCGA novel	156	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	157	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369878046 CA379599829	157	H>R		No	ClinGen gnomAD
rs764030684 CA5877815	157	H>Y		No	ClinGen ExAC gnomAD
rs760565169 CA5877814	158	N>D		No	ClinGen ExAC TOPMed gnomAD
CA379599813 rs1564913919	158	N>S		No	ClinGen Ensembl
CA379599785 rs1554925200	160	E>*		No	ClinGen Ensembl
CA379599772 rs148784597	160	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA379599764 rs1385689099	161	Y>H		No	ClinGen gnomAD
CA5877812 rs767063297	162	D>N		No	ClinGen ExAC gnomAD
rs1421722812 CA379599725	163	V>I		No	ClinGen gnomAD
CA5877810 rs774059113	165	H>P		No	ClinGen ExAC gnomAD
rs774059113 CA379599698	165	H>R		No	ClinGen ExAC gnomAD
CA217547881 rs993483496	167	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA217547882 rs1026355587	167	P>S		No	ClinGen TOPMed
rs780254804 CA5877805	168	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1046003065 CA217547861	168	P>L		No	ClinGen TOPMed gnomAD
CA5877804 rs780254804	168	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5877806 rs780254804	168	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5877803 rs554233781	169	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA5877802 rs746081361	170	D>G		No	ClinGen ExAC TOPMed gnomAD
CA217547837 rs764056674	171	D>G		No	ClinGen TOPMed
rs779222476 CA5877801	171	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1554925162 CA379599585	172	R>*		No	ClinGen Ensembl
CA379599538 rs1554925159	174	Q>*		No	ClinGen Ensembl
TCGA novel	175	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5877799 rs753631716	177	M>T		No	ClinGen ExAC gnomAD
CA379599454 rs1554925153	178	E>*		No	ClinGen Ensembl
rs1299203878 CA379599429	179	D>G		No	ClinGen TOPMed
CA379599401 rs1554925145	181	E>*		No	ClinGen Ensembl
rs777452245 CA5877798	182	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	182	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5877797 rs756056265	183	T>A		No	ClinGen ExAC gnomAD
CA379599364 rs1283048967	183	T>I		No	ClinGen TOPMed
rs752618376 CA5877796	185	V>M		No	ClinGen ExAC gnomAD
rs1487620309 CA379599313	186	T>N		No	ClinGen TOPMed
rs1292753240 CA379599304	187	K>Q		No	ClinGen gnomAD
rs1590271898 CA379599255	189	Q>L		No	ClinGen Ensembl
rs1346605547 CA379599248	190	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs759102529 CA5877794	190	R>H		No	ClinGen ExAC TOPMed gnomAD
rs777002085 CA5877790	194	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5877791 rs762543430	194	Y>H		No	ClinGen ExAC gnomAD
rs1042883918 CA217547804	196	I>V		No	ClinGen gnomAD
CA217547802 rs1057352308	197	S>N		No	ClinGen Ensembl
CA5877789 rs768947488	197	S>R		No	ClinGen ExAC gnomAD
CA379599103 rs373169544	198	R>G		No	ClinGen ESP TOPMed gnomAD
rs369437857 CA5877788	198	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA217547783 rs369437857	198	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA217547787 rs373169544	198	R>W		No	ClinGen ESP TOPMed gnomAD
rs1327129052 CA379599055	199	D>E		No	ClinGen gnomAD
rs776203467 CA5877787	199	D>N		No	ClinGen ExAC gnomAD
CA217547757 rs937743554	202	Y>C		No	ClinGen TOPMed gnomAD
CA217547748 rs763131185	203	V>I		No	ClinGen TOPMed gnomAD
CA379598969 rs1370578839	204	S>P		No	ClinGen TOPMed
rs1554925109 CA379598934	205	K>*		No	ClinGen Ensembl
CA5877782 rs749522855	206	C>G		No	ClinGen ExAC gnomAD
CA379598897 rs1564913664	207	I>V		No	ClinGen Ensembl
CA379598842 rs1554925105	208	C>*		No	ClinGen Ensembl
rs139678753 CA217547736	208	C>G		No	ClinGen ESP TOPMed
rs1456404858 CA379598776	211	T>I		No	ClinGen gnomAD
CA379598769 rs1285321123	212	P>A		No	ClinGen TOPMed
CA217547728 rs878990091	213	M>V		No	ClinGen gnomAD
rs1470550721 CA379598658	216	M>V		No	ClinGen gnomAD
rs1554925093 CA379598617	217	K>*		No	ClinGen Ensembl
rs755930113 CA5877780	217	K>N		No	ClinGen ExAC gnomAD
rs748066258 CA5877779	218	A>S		No	ClinGen ExAC TOPMed gnomAD
CA379598548 rs1554925089	219	C>*		No	ClinGen Ensembl
rs781047379 CA379598544	220	R>G		No	ClinGen ExAC TOPMed gnomAD
rs145978537 CA5877777	220	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5877778 rs781047379	220	R>W		No	ClinGen ExAC TOPMed gnomAD
rs139062341 CA5877775	222	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379598449 rs952374	224	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379598456 rs952374	224	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs952374 VAR_028409 CA5877774	224	E>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA379598423 rs964003655	225	Q>H		No	ClinGen gnomAD
rs955489576 CA217547690	227	H>Q		No	ClinGen TOPMed gnomAD
rs1157945817 CA379598398	227	H>Y		No	ClinGen TOPMed
CA379598368 rs1554925073	228	Q>*		No	ClinGen Ensembl
CA379598360 COSM1357729 rs1231023959	229	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA379598343 rs1308992589	231	T>A		No	ClinGen gnomAD
CA379598341 rs1564913520	231	T>S		No	ClinGen Ensembl
rs750079505 CA5877773	232	S>L		No	ClinGen ExAC TOPMed gnomAD
CA5877771 rs761000239	233	P>R		No	ClinGen ExAC gnomAD
CA379598314 rs1554925064	234	Q>*		No	ClinGen Ensembl
rs912472377 CA217547678	235	P>S		No	ClinGen Ensembl
rs776004527 CA5877770	236	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	236	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	237	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1464007844 CA379598208	240	L>V		No	ClinGen gnomAD
rs1554925053 CA379598192	241	E>*		No	ClinGen Ensembl
TCGA novel	243	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1262447188 CA379598148	243	Y>H		No	ClinGen Ensembl
CA5877766 rs774550898	245	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs760147613 CA5877767	245	Y>H		No	ClinGen ExAC gnomAD
CA379598080 rs1590271485	246	N>S		No	ClinGen Ensembl
CA5877764 rs149929115	247	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA217547657 rs149929115	247	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379598051 rs773366039	248	L>F		No	ClinGen ExAC gnomAD
rs773366039 CA5877763	248	L>V		No	ClinGen ExAC gnomAD
CA217547649 rs199768980	249	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379598033 rs1441880158	249	Y>F		No	ClinGen gnomAD
rs1554925035 CA379598021	250	E>*		No	ClinGen Ensembl
rs1026386979 CA217547644	251	V>L		No	ClinGen TOPMed gnomAD
rs1198609513 CA379597977	252	P>L		No	ClinGen gnomAD
CA5877760 rs549735255	253	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA217547632 rs963753249	254	P>L		No	ClinGen Ensembl
rs746994477 CA5877758	254	P>S		No	ClinGen ExAC TOPMed
CA379597944 rs746994477	254	P>T		No	ClinGen ExAC TOPMed
rs1339874323 CA379597921	255	P>S		No	ClinGen gnomAD
CA217547625 rs867644036	256	P>L		No	ClinGen Ensembl
CA5877757 rs779581760	257	G>S		No	ClinGen ExAC gnomAD
rs757910114 CA5877756	258	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1245118875 CA379597867	258	R>W		No	ClinGen gnomAD
CA379597816 rs1554925021	260	L>*		No	ClinGen Ensembl
rs1554925017 CA379597794	261	K>*		No	ClinGen Ensembl
rs1393589754 CA379597677	265	V>A		No	ClinGen gnomAD
rs376134706 CA5877753	266	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs376134706 CA5877754	266	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA217547600 rs1014481380	267	G>E		No	ClinGen TOPMed gnomAD
rs146116488 CA217547604	267	G>R		No	ClinGen ESP gnomAD
rs753065587 CA5877752	270	I>V		No	ClinGen ExAC gnomAD
CA379597412 rs1554925004	271	C>*		No	ClinGen Ensembl
rs1554925001 CA379597398	272	Q>*		No	ClinGen Ensembl
CA379597384 rs1554924997	273	R>*		No	ClinGen Ensembl
rs1564913329 CA379597341	275	S>G		No	ClinGen Ensembl
rs768047381 CA5877751	276	T>I		No	ClinGen ExAC gnomAD
CA217547587 rs866632286	276	T>S		No	ClinGen Ensembl
CA5877750 rs74359608	277	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379597278 rs1554924992	278	E>*		No	ClinGen Ensembl
TCGA novel	278	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379597222 rs1590271180	280	P>L		No	ClinGen Ensembl
CA379597229 rs1185520400	280	P>S		No	ClinGen TOPMed
CA217547577 rs200817518	283	D>A		No	ClinGen Ensembl
rs773343979 CA5877746	284	F>V		No	ClinGen ExAC gnomAD
rs762043747 CA5877744	285	P>A		No	ClinGen ExAC gnomAD
CA379597108 rs1554924972	287	K>*		No	ClinGen Ensembl
rs746941797 CA5877741	287	K>R		No	ClinGen ExAC TOPMed gnomAD
CA379597089 rs1554924963	288	E>*		No	ClinGen Ensembl
rs779911552 CA379597048	291	E>*		No	ClinGen ExAC gnomAD
CA5877740 rs779911552	291	E>Q		No	ClinGen ExAC gnomAD
rs745332882 CA5877738	294	G>R		No	ClinGen ExAC TOPMed gnomAD
rs753585856 CA5877735	295	V>A		No	ClinGen ExAC TOPMed gnomAD
rs753585856 CA5877736	295	V>G		No	ClinGen ExAC TOPMed gnomAD
CA379597025 rs778510661	295	V>L		No	ClinGen ExAC gnomAD
CA5877737 rs778510661	295	V>M		No	ClinGen ExAC gnomAD
CA379597022 rs1554924947	296	E>*		No	ClinGen Ensembl
CA217547512 rs939796080	297	N>D		No	ClinGen TOPMed
TCGA novel	298	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5877732 rs751969213	303	T>N		No	ClinGen ExAC gnomAD
rs1554924941 CA379596960	304	C>*		No	ClinGen Ensembl
TCGA novel	304	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA217547487 rs908358606	305	A>T		No	ClinGen TOPMed
CA217547482 rs764097704	307	L>V		No	ClinGen Ensembl
CA379596936 rs1554924929	308	E>*		No	ClinGen Ensembl
rs763545499 CA5877730	309	F>L		No	ClinGen ExAC gnomAD
CA379596910 rs1554924925	310	Q>*		No	ClinGen Ensembl
rs750420759 CA5877729	311	I>V		No	ClinGen ExAC gnomAD
CA379596862 rs1194721213	314	Y>*		No	ClinGen TOPMed
CA379596858 rs74547059	315	S>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5877727 rs74547059	315	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5877706 rs765293000	317	H>R		No	ClinGen ExAC gnomAD
CA5877726 rs776902277	317	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA217542926 rs915371303	319	Q>*		No	ClinGen TOPMed
CA379595112 rs1554922671	320	R>*		No	ClinGen Ensembl
TCGA novel	320	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761935304 CA5877705	320	R>S		No	ClinGen ExAC TOPMed gnomAD
rs753925388 CA5877704	322	M>I		No	ClinGen ExAC gnomAD
rs764231461 CA5877703	324	V>M		No	ClinGen ExAC gnomAD
rs760981468 CA217542913	325	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5877702 rs760981468 COSM1357701	325	A>V	large_intestine Variant assessed as Somatic; 9.258e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1554922659 CA379595077	326	E>*		No	ClinGen Ensembl
TCGA novel	326	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767389284 CA5877700	327	T>A		No	ClinGen ExAC gnomAD
rs552367933 CA5877699	327	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1251040128 CA379595066	328	I>V		No	ClinGen TOPMed
rs1359855243 CA379595055	329	T>I		No	ClinGen gnomAD
CA217542893 rs921671656	330	A>G		No	ClinGen Ensembl
CA5877696 rs577172428	332	M>T		No	ClinGen ExAC gnomAD
rs552991474 CA217542888	333	F>L		No	ClinGen TOPMed gnomAD
COSM1638994 rs1554922646 CA379595012	336	Q>*	stomach [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1170270598 CA379595007	336	Q>H		No	ClinGen gnomAD
rs1554922644 CA379595003	337	W>*		No	ClinGen Ensembl
CA379595000 rs1554922642	337	W>*		No	ClinGen Ensembl
CA379594995 rs1449913807	338	Q>*		No	ClinGen gnomAD
rs1590257963 CA379594988	339	H>D		No	ClinGen Ensembl
CA379594977 rs1186327083	340	V>G		No	ClinGen gnomAD
CA379594968 rs1209981721	341	Y>*		No	ClinGen gnomAD
rs1237573189 CA379594971	341	Y>C		No	ClinGen TOPMed gnomAD
rs1387161787 CA379594937	346	P>L		No	ClinGen TOPMed
CA379594927 rs1427954428	348	S>Y		No	ClinGen TOPMed
CA5877691 rs758860067	350	L>M		No	ClinGen ExAC gnomAD
rs1341977562 CA379594915	350	L>P		No	ClinGen gnomAD
RCV001311735 rs746343734 CA5877690	355	A>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA217542870 rs373049315	358	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5877689 rs373049315	358	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA379594857 rs1273593158	359	Y>C		No	ClinGen gnomAD
rs1554922605 CA379594832	363	L>*		No	ClinGen Ensembl
CA5877688 rs757764077	364	H>N		No	ClinGen ExAC gnomAD
CA379594813 rs1447131413	366	N>D		No	ClinGen gnomAD
rs764208843 CA5877687	366	N>I		No	ClinGen ExAC TOPMed gnomAD
rs764208843 CA5877686	366	N>S		No	ClinGen ExAC TOPMed gnomAD
rs756259803 CA5877685	367	G>D		No	ClinGen ExAC gnomAD
TCGA novel	368	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1369775468 CA379594790	370	D>N		No	ClinGen gnomAD
rs753029767 CA5877684	371	R>Q		No	ClinGen ExAC gnomAD
rs1166275434 CA379594781	371	R>W		No	ClinGen TOPMed gnomAD
CA379594768 rs767207701	373	K>*		No	ClinGen ExAC gnomAD
CA5877683 rs767207701	373	K>E		No	ClinGen ExAC gnomAD
CA379594748 rs1554922592	375	E>*		No	ClinGen Ensembl
rs143731215 CA5877681	377	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554922581 CA379594719	378	Q>*		No	ClinGen Ensembl
rs1554922579 CA379594710	379	E>*		No	ClinGen Ensembl
rs1484952360 CA379617560	383	C>*		No	ClinGen TOPMed
CA5877658 rs761328650	384	F>L		No	ClinGen ExAC gnomAD
rs768313474 CA5877656	387	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5877655 rs760371606	389	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1258633557 CA379617516	390	H>N		No	ClinGen TOPMed
CA5877654 rs774668102	390	H>R		No	ClinGen ExAC TOPMed gnomAD
rs771353078 CA5877653	392	I>T		No	ClinGen ExAC TOPMed gnomAD
CA379617495 rs1554919711	393	E>*		No	ClinGen Ensembl
rs1554919709 CA379617485	394	L>*		No	ClinGen Ensembl
rs1554919708 CA379617472	396	E>*		No	ClinGen Ensembl
CA379617456 rs1554919707	398	L>*		No	ClinGen Ensembl
CA379617448 rs1178922986	399	P>L		No	ClinGen gnomAD
rs1554919704 CA379617413	404	K>*		No	ClinGen Ensembl
rs1267135466 CA379617404	405	L>M		No	ClinGen gnomAD
CA379617387 rs1554919700	406	E>*		No	ClinGen Ensembl
CA5877651 rs778289751	408	V>F		No	ClinGen ExAC gnomAD
CA379617352 rs1554919694	409	Q>*		No	ClinGen Ensembl
CA5877649 rs748221251	409	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA379617340 rs1554919689	410	E>*		No	ClinGen Ensembl
rs1554919683 CA379617312	413	E>*		No	ClinGen Ensembl
rs1258859611 CA379617283	415	L>I		No	ClinGen gnomAD
CA5877647 rs755202824	416	M>L		No	ClinGen ExAC gnomAD
rs755202824 CA379617275	416	M>V		No	ClinGen ExAC gnomAD
CA5877646 rs751867556	417	A>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	417	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554919674 CA379617246	419	G>*		No	ClinGen Ensembl
rs758322402 CA5877644	419	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1416447417 CA379617236	420	I>F		No	ClinGen TOPMed
CA379617234 rs1366907375	420	I>N		No	ClinGen TOPMed gnomAD
CA379617232 rs1366907375	420	I>T		No	ClinGen TOPMed gnomAD
rs750256441 CA379617213	422	P>A		No	ClinGen ExAC gnomAD
CA5877643 rs750256441	422	P>T		No	ClinGen ExAC gnomAD
rs1554919661 CA379617203	423	E>*		No	ClinGen Ensembl
CA217554747 rs199622327	423	E>D		No	ClinGen TOPMed
CA5877642 rs765155006	425	N>D		No	ClinGen ExAC gnomAD
CA5877641 rs373694824	425	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1305061616 CA379617169	426	L>P		No	ClinGen gnomAD
rs753338218 CA379617144	428	C>*		No	ClinGen ExAC gnomAD
CA379617146 rs1351701307	428	C>F		No	ClinGen gnomAD
CA217554736 rs899011668	429	S>N		No	ClinGen TOPMed
CA379617127 rs1554919647	430	E>*		No	ClinGen Ensembl
rs1554919640 CA379617078	434	K>*		No	ClinGen Ensembl
CA217554726 rs750848425	435	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA217554723 rs750848425	435	L>R		No	ClinGen TOPMed
rs1554919633 CA379617059	436	K>*		No	ClinGen Ensembl
CA217554713 rs201280475	437	R>M		No	ClinGen Ensembl
rs771739519 CA5877636	438	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA5877634 rs773484374	439	R>Q		No	ClinGen ExAC gnomAD
rs376474189 CA5877635	439	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1483537841 CA379617019	440	A>D		No	ClinGen gnomAD
CA379617002 rs1554919617	442	E>*		No	ClinGen Ensembl
rs1389779994 CA379616987	443	L>F		No	ClinGen TOPMed gnomAD
rs1389779994 CA379616989	443	L>V		No	ClinGen TOPMed gnomAD
rs148944247 CA379616966	445	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148944247 CA5877632	445	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379616949 rs1297853452	447	K>E		No	ClinGen gnomAD
rs747216944 CA5877629	448	R>T		No	ClinGen ExAC gnomAD
CA5877630 rs768919792	448	R>W		No	ClinGen ExAC gnomAD
rs780365105 CA5877628	450	G>R		No	ClinGen ExAC gnomAD
rs750201378 CA5877626	452	I>M		No	ClinGen ExAC gnomAD
rs758697964 CA5877627	452	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5877625 rs778593688	453	A>V		No	ClinGen ExAC gnomAD
rs757188792 CA5877624	454	G>D		No	ClinGen ExAC gnomAD
TCGA novel	456	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379616839 rs1554919600	457	L>*		No	ClinGen Ensembl
CA379616830 rs1474565948	458	H>R		No	ClinGen gnomAD
CA379616817 rs1395546532	460	Y>C		No	ClinGen TOPMed
rs752212392 CA5877620	460	Y>D		No	ClinGen ExAC gnomAD
rs754943223 CA379616812	461	E>*		No	ClinGen ExAC TOPMed gnomAD
CA5877618 rs754943223	461	E>K		No	ClinGen ExAC TOPMed gnomAD
rs754943223 CA379616813	461	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA379616792 rs1554919579	464	K>*		No	ClinGen Ensembl
rs1554919575 CA379616784	465	E>*		No	ClinGen Ensembl
CA5877616 rs773605757	466	N>H		No	ClinGen ExAC gnomAD
rs375135196 CA5877614	468	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs150185779 CA5877615	468	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA217554647 rs987102271	469	I>V		No	ClinGen TOPMed gnomAD
rs531351314 CA217554642	470	A>P		No	ClinGen gnomAD
rs531351314 CA379616753	470	A>T		No	ClinGen gnomAD
CA379616746 rs200439974	471	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5877610 rs200439974 COSM1475965	471	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs747018631 CA5877611	471	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1257729331 CA379616727	474	A>V		No	ClinGen gnomAD
rs1554919559 CA379616724	475	L>*		No	ClinGen Ensembl
CA379616712 rs117463710	477	K>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5877608 rs117463710	477	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554919553 CA379616703	478	R>*		No	ClinGen Ensembl
TCGA novel	478	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA217554627 rs949596196	481	V>L		No	ClinGen TOPMed
CA217554623 rs949596196	481	V>M		No	ClinGen TOPMed
rs757060174 CA5877606	482	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1554919548 CA379616646	484	E>*		No	ClinGen Ensembl
rs780673118 CA5877582	488	V>A		No	ClinGen ExAC TOPMed gnomAD
rs557614928 COSM691085 CA5877581	489	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5877580 rs751089851	489	R>H		No	ClinGen ExAC TOPMed
rs1554919130 CA379616202	490	E>*		No	ClinGen Ensembl
rs1347530321 CA379616188	491	D>H		No	ClinGen gnomAD
rs962753532 CA217553917	494	S>N		No	ClinGen TOPMed
CA5877578 rs758100539	495	N>H		No	ClinGen ExAC gnomAD
CA379616085 rs556290457	496	K>*		No	ClinGen ExAC TOPMed gnomAD
CA5877577 rs556290457	496	K>E		No	ClinGen ExAC TOPMed gnomAD
rs140062756 CA5877574	497	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182954474 CA5877575	497	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5877573 rs768153590	498	L>F		No	ClinGen ExAC gnomAD
CA379616036 rs1554919113	499	K>*		No	ClinGen Ensembl
rs759467625 CA5877572	499	K>T		No	ClinGen ExAC gnomAD
CA379616001 rs1554919107	501	Q>*		No	ClinGen Ensembl
CA5877571 rs774521348	501	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs1554919101 CA379615968	502	C>*		No	ClinGen Ensembl
CA5877570 rs771014056	503	D>E		No	ClinGen ExAC gnomAD
rs1554919098 CA379615931	504	E>*		No	ClinGen Ensembl
rs1453631108 CA379615907	505	E>K		No	ClinGen gnomAD
rs1554919092 CA379615886 COSM933018	506	E>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1554919086 CA379615796	511	Q>*		No	ClinGen Ensembl
CA379615786 rs1214196058	511	Q>H		No	ClinGen gnomAD
rs555120596 CA379615793	511	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555120596 CA5877568	511	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA379615747 rs1590238687	514	I>N		No	ClinGen Ensembl
rs535381630 CA5877567	515	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA5877566 rs199898256	515	Q>R		No	ClinGen 1000Genomes ExAC
rs1346218826 CA379615725	516	I>F		No	ClinGen gnomAD
CA379615711 rs1564899063	517	R>Q		No	ClinGen Ensembl
CA379615712 rs1300066037	517	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA379615698 rs1554919072	518	E>*		No	ClinGen Ensembl
rs1029879324 CA217553865	520	F>I		No	ClinGen TOPMed gnomAD
COSM1357700 rs1236379978 CA379615654	521	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs768640435 CA5877564	521	A>V		No	ClinGen ExAC gnomAD
CA217553860 rs903955500	522	N>D		No	ClinGen Ensembl
rs201977017 CA5877563	523	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5877562 rs779638719	523	R>H		No	ClinGen ExAC TOPMed gnomAD
CA379615602 rs1554919062	526	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1590238604 CA379615564	528	F>C		No	ClinGen Ensembl
CA379615536 rs1433846003	530	D>H		No	ClinGen gnomAD
rs1554919054 CA379615489	532	E>*		No	ClinGen Ensembl
rs778270159 CA5877559	533	V>A		No	ClinGen ExAC gnomAD
rs756491585 CA5877558	536	I>V		No	ClinGen ExAC gnomAD
CA379615398 rs1554919052	537	Q>*		No	ClinGen Ensembl
CA217553828 rs867827004	539	S>N		No	ClinGen Ensembl
CA379615362 rs1554919047	540	Q>*		No	ClinGen Ensembl
rs1184245657 CA379615353	541	D>N		No	ClinGen TOPMed gnomAD
CA379615337 rs767872600	542	K>*		No	ClinGen ExAC gnomAD
CA5877556 rs767872600	542	K>E		No	ClinGen ExAC gnomAD
CA379615325 rs1554919040	543	E>*		No	ClinGen Ensembl
rs1554919035 CA379615299	545	W>*		No	ClinGen Ensembl
rs1187928927 CA379615286	545	W>*		No	ClinGen gnomAD
rs1187928927 CA379615282	545	W>C		No	ClinGen gnomAD
CA379615249 rs1590238488	548	N>K		No	ClinGen Ensembl
rs1554919029 CA379615231	550	E>*		No	ClinGen Ensembl
rs1554919023 CA379615212	551	Q>*		No	ClinGen Ensembl
rs763085422 CA5877552	552	M>L		No	ClinGen ExAC gnomAD
rs1554919020 CA379615189	553	Q>*		No	ClinGen Ensembl
rs1554919013 CA379615141	557	K>*		No	ClinGen Ensembl
CA379615076 rs1391730051	558	A>T		No	ClinGen gnomAD
rs1554918875 CA379615019	564	Q>*		No	ClinGen Ensembl
CA379614976 rs1364727420	568	Y>S		No	ClinGen gnomAD
CA379614951 rs1438206735	571	F>L		No	ClinGen gnomAD
rs1438206735 CA379614950	571	F>V		No	ClinGen gnomAD
rs1554918867 CA379614924	574	R>*		No	ClinGen Ensembl
CA379614875 rs1554918864	577	E>*		No	ClinGen Ensembl
rs1554918862 CA379614844	579	Q>*		No	ClinGen Ensembl
CA5877529 rs763987990	581	F>L		No	ClinGen ExAC gnomAD
CA5877530 rs763987990	581	F>V		No	ClinGen ExAC gnomAD
CA5877528 rs142569478	582	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1564898652 CA379614735	583	S>F		No	ClinGen Ensembl
TCGA novel	585	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199552458 CA5877527	585	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs367566830 CA217553474	585	I>V		No	ClinGen ESP TOPMed gnomAD
CA5877526 rs771909659	587	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379614677 rs771909659	587	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1554918849 CA379614664	588	K>*		No	ClinGen Ensembl
rs1193070071 CA379614661	588	K>T		No	ClinGen gnomAD
TCGA novel	589	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1510653 rs1488939951 CA379614650	589	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5877525 rs745331697	590	M>I		No	ClinGen ExAC gnomAD
CA379614630 rs1252676332	590	M>V		No	ClinGen gnomAD
rs1315775917 CA379614608	591	C>*		No	ClinGen TOPMed
CA379614598 rs1269921662	592	H>R		No	ClinGen gnomAD
rs1466341640 CA379614602	592	H>Y		No	ClinGen gnomAD
CA379614544 rs1316074841	595	D>E		No	ClinGen TOPMed gnomAD
CA5877523 rs371085395	596	D>V		No	ClinGen ESP ExAC gnomAD
CA379614520 rs1554918829	597	K>*		No	ClinGen Ensembl
CA379614482 rs1371260359	599	P>S		No	ClinGen gnomAD
CA379614457 rs1438034828	601	L>F		No	ClinGen gnomAD
rs1311800505 CA379614453	601	L>P		No	ClinGen TOPMed
rs147590248 CA5877518	602	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747345063 CA5877519	602	R>W		No	ClinGen ExAC gnomAD
rs1343747838 CA379614438	603	V>I		No	ClinGen gnomAD
CA5877517 rs758930750	606	S>Y		No	ClinGen ExAC gnomAD
rs750450139 CA379614375	607	R>*		No	ClinGen ExAC gnomAD
CA5877516 rs750450139	607	R>G		No	ClinGen ExAC gnomAD
CA5877515 COSM1322104 rs765348497	607	R>Q	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs757440286 CA5877514	609	D>E		No	ClinGen ExAC gnomAD
rs1192044176 CA379614346	609	D>Y		No	ClinGen gnomAD
CA379614328 rs1554918807	610	K>*		No	ClinGen Ensembl
rs1265074393 CA379614323	610	K>R		No	ClinGen TOPMed
CA5877513 rs754153915	611	I>M		No	ClinGen ExAC gnomAD
CA5877512 rs571585440	612	R>S		No	ClinGen 1000Genomes ExAC gnomAD
CA379614273 rs1554918798	614	L>*		No	ClinGen Ensembl
rs1485510365 CA379614244	615	N>S		No	ClinGen gnomAD
CA217553417 rs200621046	617	R>Q		No	ClinGen TOPMed gnomAD
CA379614202 rs1211963150	618	T>A		No	ClinGen gnomAD
rs1348369106 CA379614192	618	T>I		No	ClinGen gnomAD
CA5877510 rs775181963	619	P>L		No	ClinGen ExAC gnomAD
CA379614164 rs1487155157	620	T>I		No	ClinGen TOPMed
rs767513507 CA5877509	622	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA379614136 rs1295693213	622	R>H		No	ClinGen gnomAD
CA5877508 rs759597325	623	T>R		No	ClinGen ExAC gnomAD
CA379614097 rs1189794477	624	S>F		No	ClinGen TOPMed
CA5877506 rs377562338	625	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs777968392 CA5877507	625	M>V		No	ClinGen ExAC TOPMed gnomAD
CA379614011 rs1554918770	628	K>*		No	ClinGen Ensembl
rs1375245462 CA379614009	628	K>T		No	ClinGen gnomAD
CA379613992 rs1554918760	629	C>*		No	ClinGen Ensembl
CA217553383 rs903564800	630	T>A		No	ClinGen Ensembl
CA5877504 rs772866243	631	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1390801052 CA379613971	631	T>I		No	ClinGen gnomAD
CA217553354 rs766920445	633	D>G		No	ClinGen TOPMed gnomAD
rs766920445 CA379613952	633	D>V		No	ClinGen TOPMed gnomAD
CA379613949 rs1554918745	634	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1455137097 CA379613939	635	A>T		No	ClinGen TOPMed
CA379613931 rs1345677371	636	E>*		No	ClinGen TOPMed
TCGA novel	636	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379613934 rs1345677371	636	E>K		No	ClinGen TOPMed
rs1554916816 CA379612324	637	K>*		No	ClinGen Ensembl
CA5877474 rs777766849	637	K>N		No	ClinGen ExAC gnomAD
rs1230793253 CA379612294	639	I>T		No	ClinGen gnomAD
rs1271794575 CA379612300	639	I>V		No	ClinGen gnomAD
CA379612284 rs1554916808	640	E>*		No	ClinGen Ensembl
rs752932801 CA5877472	642	R>C		No	ClinGen ExAC gnomAD
COSM180289 CA217551074 rs965362811	642	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs781123425 CA5877471	644	A>E		No	ClinGen ExAC gnomAD
rs867083765 CA217551071	644	A>T		No	ClinGen Ensembl
CA379612222 rs1554916795	645	K>*		No	ClinGen Ensembl
CA5877470 rs754766067	646	I>T		No	ClinGen ExAC gnomAD
CA5877468 rs766374994	651	I>V		No	ClinGen ExAC TOPMed gnomAD
CA379612011 rs762817124	656	L>P		No	ClinGen ExAC TOPMed gnomAD
rs762817124 CA5877467	656	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1157767633 CA379612001	657	D>N		No	ClinGen gnomAD
CA379611939 rs1554916786	659	K>*		No	ClinGen Ensembl
CA379611923 rs1468468445	660	I>F		No	ClinGen gnomAD
CA379611915 rs1554916781	661	G>*		No	ClinGen Ensembl
CA379611911 rs1182339422	661	G>E		No	ClinGen TOPMed
CA379611903 rs1554916776	662	Q>*		No	ClinGen Ensembl
rs954184510 CA217551059	662	Q>R		No	ClinGen TOPMed
rs1365327990 CA379611890	663	G>A		No	ClinGen TOPMed
rs1554916768 CA379611882	664	K>*		No	ClinGen Ensembl
CA5877465 rs764692235	664	K>R		No	ClinGen ExAC TOPMed gnomAD
CA379611868 rs1453212124	665	Y>C		No	ClinGen gnomAD
rs1554916765 CA379611861	666	E>*		No	ClinGen Ensembl
rs1426670827 CA379611844 COSM1289654	667	P>L	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1250629596 CA379611849	667	P>S		No	ClinGen TOPMed gnomAD
rs1250629596 CA379611852	667	P>T		No	ClinGen TOPMed gnomAD
rs377395197 CA5877464	669	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs776323061 CA5877463	671	P>R		No	ClinGen ExAC gnomAD
rs1554916755 CA379611801	672	K>*		No	ClinGen Ensembl
rs763748455 CA5877462	673	L>M		No	ClinGen ExAC gnomAD
rs1554916751 CA379611779	674	Q>*		No	ClinGen Ensembl
rs759854633 CA5877461	674	Q>L		No	ClinGen ExAC gnomAD
rs774720962 CA5877460	675	S>P		No	ClinGen ExAC gnomAD
rs1233885292 CA379611748	677	V>I		No	ClinGen gnomAD
TCGA novel	679	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771448296 CA5877459	680	T>A		No	ClinGen ExAC gnomAD
rs1431645117 CA379611709	681	G>E		No	ClinGen gnomAD
CA379611698 rs1317603665	682	P>R		No	ClinGen gnomAD
rs1377065655 CA379611683	684	S>G		No	ClinGen gnomAD
CA5877456 rs769825545	685	N>K		No	ClinGen ExAC gnomAD
rs1554916724 CA379611659	686	K>*		No	ClinGen Ensembl
rs1178603624 CA379611607	686	K>N		No	ClinGen TOPMed
rs1554916589 CA379611598	687	W>*		No	ClinGen Ensembl
rs760369620 CA5877444	687	W>*		No	ClinGen ExAC gnomAD
rs140272602 CA379611589	688	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5877443 rs140272602	688	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA379611586 rs1590228652	689	K>E		No	ClinGen Ensembl
CA379611580 rs1183015750	689	K>R		No	ClinGen gnomAD
CA379611549 rs1166600241	692	A>T		No	ClinGen gnomAD
CA217550862 rs960243198	692	A>V		No	ClinGen Ensembl
rs1476483075 CA379611526	694	A>G		No	ClinGen gnomAD
rs1554916571 CA379611519	695	Q>*		No	ClinGen Ensembl
rs1554916561 CA379611500	696	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554916566 CA379611505	696	W>*		No	ClinGen Ensembl
rs773537386 CA5877440	696	W>R		No	ClinGen ExAC gnomAD
CA5877439 rs770342376	697	R>K		No	ClinGen ExAC TOPMed gnomAD
CA5877437 rs150663913	698	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5877436 rs150663913	698	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369856493 CA5877438	698	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1554916550 CA379611479	699	K>*		No	ClinGen Ensembl
CA5877432 rs745688592	701	R>Q		No	ClinGen ExAC gnomAD
CA5877433 COSM180288 rs758183835	701	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1554916546 CA379611461	702	Q>*		No	ClinGen Ensembl
rs757241784 CA5877431	702	Q>H		No	ClinGen ExAC gnomAD
CA379611445 rs1554916541	704	Q>*		No	ClinGen Ensembl
CA5877429 rs753324749	706	T>A		No	ClinGen ExAC gnomAD
CA5877428 rs763635934	706	T>I		No	ClinGen ExAC gnomAD
rs752406898 CA379611427	707	E>*		No	ClinGen ExAC gnomAD
rs752406898 CA5877426	707	E>K		No	ClinGen ExAC gnomAD
rs752406898 CA5877427	707	E>Q		No	ClinGen ExAC gnomAD
rs187194012 CA5877425	708	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA217550833 rs1050152874	710	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA379611408 rs1050152874	710	R>G		No	ClinGen TOPMed gnomAD
rs1050152874 CA379611409	710	R>S		No	ClinGen TOPMed gnomAD
CA379611405 rs1164888651	711	L>I		No	ClinGen gnomAD
CA379611394 rs1474400756	712	D>G		No	ClinGen gnomAD
rs1410655270 CA379611372	715	Q>*		No	ClinGen gnomAD
rs1177930656 CA379611360	716	R>S		No	ClinGen gnomAD
rs1554916514 CA379611357	717	E>*		No	ClinGen Ensembl
CA379611355 rs1480436969	717	E>G		No	ClinGen gnomAD
CA379610596 rs1554915512	718	K>*		No	ClinGen Ensembl
rs780672339 CA5877405	718	K>N		No	ClinGen ExAC gnomAD
rs1216206315 CA379610593	718	K>T		No	ClinGen gnomAD
rs1157828557 CA379610576	719	Y>*		No	ClinGen TOPMed
CA5877404 rs201221265	720	I>N		No	ClinGen 1000Genomes ExAC gnomAD
CA379610556 rs1554915499	721	Q>*		No	ClinGen Ensembl
rs61877790 CA379610549	722	E>*		No	ClinGen Ensembl
rs61877790 CA217549710	722	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs765670637 CA5877402	723	A>G		No	ClinGen ExAC gnomAD
CA5877401 rs762402660	725	T>A		No	ClinGen ExAC gnomAD
CA379610530 rs762402660	725	T>S		No	ClinGen ExAC gnomAD
rs1364691051 CA379610524	726	M>T		No	ClinGen gnomAD
rs754451263 CA5877400	726	M>V		No	ClinGen ExAC gnomAD
CA379610514 rs1290008101	727	G>A		No	ClinGen TOPMed gnomAD
RCV001268084 rs1848176232	728	S>missing		No	ClinVar dbSNP
TCGA novel	728	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468521496 CA379610509	728	S>N		No	ClinGen gnomAD
rs764709855 CA5877399	730	I>M		No	ClinGen ExAC gnomAD
rs1590224335 CA379610497	730	I>V		No	ClinGen Ensembl
rs951970963 CA217549679	731	R>C		No	ClinGen TOPMed gnomAD
CA5877398 rs748445112	731	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379610486 rs1554915469	732	Q>*		No	ClinGen Ensembl
CA5877397 rs775670471	733	P>T		No	ClinGen ExAC gnomAD
CA379610475 rs1554915462	734	K>*		No	ClinGen Ensembl
rs1002252753 CA217549671	734	K>R		No	ClinGen gnomAD
CA217549668 rs373671413	736	S>C		No	ClinGen ESP TOPMed
CA5877395 rs759842967	737	N>S		No	ClinGen ExAC gnomAD
CA217549643 rs1024951403	742	V>L		No	ClinGen Ensembl
CA379610407 rs1554915445	745	Q>*		No	ClinGen Ensembl
rs1017931973 CA217549641	746	T>A		No	ClinGen TOPMed
rs1187057817 CA379610399	746	T>N		No	ClinGen gnomAD
CA379610392 rs1260765374	747	N>S		No	ClinGen gnomAD
CA379610382 rs1554915421	748	W>*		No	ClinGen Ensembl
CA379610385 rs1554915423	748	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA379610377 rs1554915417	749	K>*		No	ClinGen Ensembl
CA379610355 rs1554915414	752	E>*		No	ClinGen Ensembl
CA379610346 rs1279242865	753	G>D		No	ClinGen gnomAD
CA379610331 rs1554915399	756	K>*		No	ClinGen Ensembl
CA379610325 rs1554915396	757	E>*		No	ClinGen Ensembl
rs1554915393 CA379610311	758	C>*		No	ClinGen Ensembl
CA379610308 rs1308772819	759	R>C		No	ClinGen gnomAD
CA5877390 rs769758504	759	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5877389 rs138123105	760	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554915387 CA379610297	761	K>*		No	ClinGen Ensembl
CA379608777 rs1554914226	763	K>*		No	ClinGen Ensembl
CA379608663 rs1554914221	768	E>*		No	ClinGen Ensembl
CA379608612 rs1554914219	769	K>*		No	ClinGen Ensembl
CA379608588 rs1590218679 RCV000994568	770	M>K		No	ClinGen ClinVar Ensembl dbSNP
rs370563907 CA379608519	772	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs370563907 CA5877368	772	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554914210 CA379608501	773	E>*		No	ClinGen Ensembl
rs377448545 CA5877366	775	V>A		No	ClinGen ESP ExAC gnomAD
TCGA novel	775	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379608433 rs1554914206	776	E>*		No	ClinGen Ensembl
CA5877363 rs753307360	780	G>E		No	ClinGen ExAC gnomAD
CA379608345 rs1478046245	780	G>R		No	ClinGen TOPMed
CA379608323 rs1420491496	781	E>*		No	ClinGen gnomAD
CA379608328 rs1420491496	781	E>Q		No	ClinGen gnomAD
CA379608248 rs1172472837	783	N>S		No	ClinGen TOPMed
TCGA novel	784	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs75474593 CA5877362	785	T>I		No	ClinGen ExAC gnomAD
rs75474593 CA217547591	785	T>R		No	ClinGen ExAC gnomAD
TCGA novel	786	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369036752 CA5877361	787	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369036752 CA217547589	787	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214893115 CA379608172	788	E>*		No	ClinGen gnomAD
CA379608176 rs1214893115	788	E>Q		No	ClinGen gnomAD
CA379608154 rs1554914182	789	E>*		No	ClinGen Ensembl
rs1282800252 CA379608066	792	L>M		No	ClinGen TOPMed gnomAD
rs1282800252 CA379608063	792	L>V		No	ClinGen TOPMed gnomAD
CA217547586 rs751205110	793	I>M		No	ClinGen Ensembl
CA379608007 rs1241693563	795	S>C		No	ClinGen gnomAD
CA379607974 rs1321613611	796	L>F		No	ClinGen TOPMed gnomAD
rs1554914171 CA379607949	797	C>*		No	ClinGen Ensembl
CA379607855 rs1554914165	801	E>*		No	ClinGen Ensembl
rs1299570861 CA379607807	803	I>T		No	ClinGen TOPMed
CA379607785 rs1554914159	804	W>*		No	ClinGen Ensembl
rs1554914158 CA379607768	804	W>*		No	ClinGen Ensembl
rs1554914154 CA379607729	807	G>*		No	ClinGen Ensembl
CA379607688 rs1554914152	809	Q>*		No	ClinGen Ensembl
rs1590218477 CA379607679	809	Q>L		No	ClinGen Ensembl
CA379607655 rs1232132365	810	V>G		No	ClinGen TOPMed
CA379607650 rs1554914149	811	K>*		No	ClinGen Ensembl
rs1554914147 CA379607625	812	Q>*		No	ClinGen Ensembl
TCGA novel	812	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5877356 rs765080352	812	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1554912169 CA379606634	814	K>*		No	ClinGen Ensembl
TCGA novel	814	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA217544605 rs1002573249	817	L>S		No	ClinGen TOPMed
rs1554912164 CA379606532	818	W>*		No	ClinGen Ensembl
rs1554912165 CA379606543	818	W>*		No	ClinGen Ensembl
rs150339482 CA217544600	820	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	821	L>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA217544595 rs758647267	821	L>V		No	ClinGen gnomAD
CA379606457 rs1376862271	823	H>Q		No	ClinGen gnomAD
rs141477112 CA5877327	823	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA217544591 rs538386732	823	H>Y		No	ClinGen gnomAD
rs1313164149 CA379606443	824	Y>C		No	ClinGen gnomAD
CA379606426 rs1554912148	825	Q>*		No	ClinGen Ensembl
rs748495538 CA217544585	825	Q>R		No	ClinGen TOPMed gnomAD
rs1384885540 CA379606367	827	N>S		No	ClinGen gnomAD
rs549657250 CA5877324	828	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs537083430 CA5877323	828	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549657250 CA5877325	828	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA379606321 rs1554912129	829	Q>*		No	ClinGen Ensembl
CA379606310 rs1405313591	829	Q>H		No	ClinGen TOPMed
CA379606303 rs1554912122	830	R>*		No	ClinGen Ensembl
CA379606284 rs1554912118	831	K>*		No	ClinGen Ensembl
CA379606280 rs1181929195	831	K>R		No	ClinGen gnomAD
rs757441552 CA379606218	835	G>*		No	ClinGen ExAC gnomAD
rs757441552 CA5877320	835	G>R		No	ClinGen ExAC gnomAD
CA217544567 rs1005125740	836	S>N		No	ClinGen Ensembl
CA379606095 rs1445108064	841	G>*		No	ClinGen TOPMed
CA379606100 rs1445108064	841	G>R		No	ClinGen TOPMed
CA379605961 rs1360341658	842	I>M		No	ClinGen TOPMed
CA379605910 rs1554911734	847	E>*		No	ClinGen Ensembl
CA5877296 COSM272136 rs148317700	848	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5877294 rs767542743	848	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5877295 rs767542743	848	R>L		No	ClinGen ExAC TOPMed gnomAD
rs772685391 CA5877293	849	R>K		No	ClinGen ExAC gnomAD
TCGA novel	849	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379605881 rs1554911724	850	K>*		No	ClinGen Ensembl
CA5877292 rs375594512	850	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs761902753 CA5877291	851	S>F		No	ClinGen ExAC gnomAD
TCGA novel	851	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	853	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774514548 CA217543993	857	M>L		No	ClinGen Ensembl
rs1378771732 CA379605721	872	Q>*		No	ClinGen gnomAD
CA5877273 rs764823802	872	Q>H		No	ClinGen ExAC gnomAD
rs1378771732 CA379605719	872	Q>K		No	ClinGen gnomAD
CA379605717 rs1175564514	872	Q>R		No	ClinGen TOPMed gnomAD
rs1190582360 CA379605702	874	I>T		No	ClinGen gnomAD
rs1267914696 CA379605704	874	I>V		No	ClinGen gnomAD
rs1243650698 CA379605699	875	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1554911566 CA379605692	876	E>*		No	ClinGen Ensembl
rs767936667 CA379605677	878	K>*		No	ClinGen ExAC TOPMed gnomAD
CA5877270 rs767936667	878	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	881	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554911563 CA379605649	882	G>*		No	ClinGen Ensembl
rs1449419265 CA379605647	882	G>A		No	ClinGen Ensembl
CA379605645 rs1554911561	883	K>*		No	ClinGen Ensembl
CA379605630 rs1554911560	885	R>*		No	ClinGen Ensembl
rs774654447 CA5877268	885	R>S		No	ClinGen ExAC gnomAD
CA217543847 rs897401738	886	A>S		No	ClinGen TOPMed gnomAD
rs1554911548 CA379605615	887	W>*		No	ClinGen Ensembl
rs749276734 CA5877266	887	W>R		No	ClinGen ExAC gnomAD
CA379605609 rs1217980881	888	V>E		No	ClinGen gnomAD
CA379605605 rs1299172802	889	R>*		No	ClinGen TOPMed gnomAD
rs770107497 CA5877264	889	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748445195 CA5877263	892	M>V		No	ClinGen ExAC gnomAD
CA379605581 rs1554911539	893	E>*		No	ClinGen Ensembl
CA379605573 rs1315039195	894	K>*		No	ClinGen gnomAD
CA379605574 rs1315039195	894	K>E		No	ClinGen gnomAD
rs1208100549	895	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	896	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5877261 rs768517099	898	S>A		No	ClinGen ExAC gnomAD
rs746828979 CA5877260	898	S>Y		No	ClinGen ExAC gnomAD
rs1554911521 CA379605542	899	R>*		No	ClinGen Ensembl
CA379605534 rs1421651299	900	H>N		No	ClinGen gnomAD
rs779817963 CA5877259	900	H>R		No	ClinGen ExAC gnomAD
CA5877258 rs758385384	901	L>M		No	ClinGen ExAC TOPMed gnomAD
rs1554911515 CA379605518	902	K>*		No	ClinGen Ensembl
rs1554911510 CA379605502	903	Q>*		No	ClinGen Ensembl
rs778436007 CA5877256	905	L>V		No	ClinGen ExAC gnomAD
CA379605463 rs1483251199	906	S>A		No	ClinGen gnomAD
CA379605447 rs1254916087	907	D>V		No	ClinGen gnomAD
CA379605434 rs1207483027	908	H>R		No	ClinGen gnomAD
CA379605440 rs1212216850	908	H>Y		No	ClinGen TOPMed
CA379605423 rs1554911499	909	E>*		No	ClinGen Ensembl
CA379605402 rs1554911491	912	K>*		No	ClinGen Ensembl
CA379605400 rs1475000094	912	K>R		No	ClinGen TOPMed
CA379604530 rs1465050142	913	K>*		No	ClinGen TOPMed gnomAD
rs1465050142 CA379604531	913	K>E		No	ClinGen TOPMed gnomAD
CA217538638 rs1020330374	914	L>F		No	ClinGen TOPMed gnomAD
CA5877234 rs751836901	915	Y>H		No	ClinGen ExAC gnomAD
CA379604509 rs751836901	915	Y>N		No	ClinGen ExAC gnomAD
CA379604493 rs1554910797	916	K>*		No	ClinGen Ensembl
CA5877233 rs145919726	917	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs763351875 CA5877232	917	R>H		No	ClinGen ExAC gnomAD
rs763351875 CA379604472	917	R>L		No	ClinGen ExAC gnomAD
CA5877229 rs761947253	922	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM933012 rs577905569 CA217538625	922	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1554910787 CA379604403	923	C>*		No	ClinGen Ensembl
CA379604373 rs1554910778	926	E>*		No	ClinGen Ensembl
rs1265223388 CA379604364	927	K>*		No	ClinGen TOPMed
rs1265223388 CA379604365	927	K>E		No	ClinGen TOPMed
CA379604355 rs1554910771	928	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA379604343 rs1554910768	929	Q>*		No	ClinGen Ensembl
rs768741195 CA5877227	932	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA379604293 rs1590206216	933	H>P		No	ClinGen Ensembl
rs140691520 CA5877223	938	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5877221 rs770876737	940	V>A		No	ClinGen ExAC TOPMed gnomAD
CA379604223 rs1444738863	940	V>I		No	ClinGen gnomAD
rs755714912 CA5877218	941	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA379604214 rs755714912	941	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA379604168 rs1554910734	944	C>*		No	ClinGen Ensembl
CA5877217 rs747889548	944	C>R		No	ClinGen ExAC gnomAD
rs780717222 CA5877216	946	T>I		No	ClinGen ExAC gnomAD
CA5877215 rs779865474	947	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379604124 rs1437337361	951	T>A		No	ClinGen TOPMed gnomAD
CA5877213 rs765794788	951	T>I		No	ClinGen ExAC gnomAD
CA5877212 rs189951232	952	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs375787613 COSM1703584 CA5877197	955	P>L	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA217538151 rs375787613	955	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs757836167 CA5877195	957	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	958	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs944260318 CA217538144	961	V>G		No	ClinGen TOPMed gnomAD
CA379604043 rs1397760393 COSM933010	961	V>I	kidney Variant assessed as Somatic; 0.0 impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1490126993 CA379604022	962	P>L		No	ClinGen TOPMed
CA5877193 rs764522991	963	S>G		No	ClinGen ExAC TOPMed
CA379604007 rs1269767504	963	S>R		No	ClinGen TOPMed
CA379604001 rs1554910435	964	K>*		No	ClinGen Ensembl
rs756152982 CA5877192	964	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1413452623 CA379603987	965	K>E		No	ClinGen gnomAD
rs752741043 CA5877191	965	K>M		No	ClinGen ExAC gnomAD
CA379603959 rs1173493965	967	G>R		No	ClinGen gnomAD
rs759792997 CA217538141	968	G>A		No	ClinGen ExAC TOPMed gnomAD
rs767757153 CA5877190	968	G>S		No	ClinGen ExAC gnomAD
CA5877189 rs759792997	968	G>V		No	ClinGen ExAC TOPMed gnomAD
CA379603943 rs1192022547	969	S>A		No	ClinGen gnomAD
rs766216491 CA379603935	969	S>C		No	ClinGen ExAC TOPMed gnomAD
rs766216491 CA5877187	969	S>F		No	ClinGen ExAC TOPMed gnomAD
CA379603916 rs1186899461	970	M>I		No	ClinGen TOPMed gnomAD
CA379603929 rs1162225544	970	M>V		No	ClinGen TOPMed
rs769647153 CA5877184	972	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5877183 rs761341071	973	A>G		No	ClinGen ExAC TOPMed gnomAD
CA217538121 rs769539442	975	P>S		No	ClinGen gnomAD
rs1554910395 CA379603845	976	W>*		No	ClinGen Ensembl
CA379603839 rs1554910390	976	W>*		No	ClinGen Ensembl
CA379603806 rs1554910387	978	C>*		No	ClinGen Ensembl
rs776057421 CA5877182	979	I>V		No	ClinGen ExAC gnomAD
rs1554910385 CA379603771	981	G>*		No	ClinGen Ensembl
rs1389383559 CA379603759	982	E>*		No	ClinGen TOPMed
rs1241600767 CA379603744	983	L>*		No	ClinGen TOPMed
rs1241600767 CA379603742	983	L>S		No	ClinGen TOPMed
rs779408531 CA5877179	984	G>C		No	ClinGen ExAC TOPMed gnomAD
CA5877180 rs779408531	984	G>S		No	ClinGen ExAC TOPMed gnomAD
CA379603720 rs1554910371	985	E>*		No	ClinGen Ensembl
CA379603699 rs1554910368	987	Q>*		No	ClinGen Ensembl
CA379603675 rs1564880052	988	I>S		No	ClinGen Ensembl
rs1358584298 CA379603670	989	M>V		No	ClinGen TOPMed
CA379603646 rs1554910362	990	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA217538100 rs997783506	992	P>A		No	ClinGen TOPMed
TCGA novel	992	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379603587 rs1440340458	994	N>S		No	ClinGen TOPMed gnomAD
rs749619585 CA5877177	995	V>M		No	ClinGen ExAC TOPMed gnomAD
CA379603558 rs1554910348	997	E>*		No	ClinGen Ensembl
rs1333886140 CA379603536	998	M>V		No	ClinGen TOPMed gnomAD
CA379603472 rs1400295257	1001	E>*		No	ClinGen gnomAD
CA379603477 rs1400295257	1001	E>K		No	ClinGen gnomAD
CA379603273 rs1554910158	1002	C>*		No	ClinGen Ensembl
rs1554910155 CA379603268	1003	Q>*		No	ClinGen Ensembl
rs1554910143 CA379603215	1005	L>*		No	ClinGen Ensembl
rs151179105 CA217537801	1005	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554910139 CA379603188	1007	K>*		No	ClinGen Ensembl
CA379603167 rs1250668575	1008	L>P		No	ClinGen TOPMed gnomAD
CA5877152 rs780197393	1009	T>P		No	ClinGen ExAC gnomAD
CA379603145 rs1358925197 COSM1746638	1010	T>A	urinary_tract [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1554910129 CA379603131	1012	Q>*		No	ClinGen Ensembl
CA379603070 rs1489701165	1014	G>V		No	ClinGen gnomAD
CA379603003 rs1281698891	1017	N>H		No	ClinGen Ensembl
rs765011484 CA5877149	1017	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379602019 rs1457072541	1018	S>A		No	ClinGen TOPMed
rs113097752 CA217537784	1020	L>P		No	ClinGen Ensembl
CA217537774 rs767896984	1021	Y>C		No	ClinGen TOPMed gnomAD
rs372389104 CA5877147	1023	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554910107 CA379601849	1024	W>*		No	ClinGen Ensembl
CA379601852 rs1554910109	1024	W>*		No	ClinGen Ensembl
rs764133732 CA5877146	1026	V>G		No	ClinGen ExAC gnomAD
CA379601804 rs1434815727	1026	V>L		No	ClinGen gnomAD
rs1554910098 CA379601791	1027	E>*		No	ClinGen Ensembl
CA5877143 rs759178698	1027	E>D		No	ClinGen ExAC
rs775163933 CA5877144	1027	E>G		No	ClinGen ExAC gnomAD
rs773611543 CA5877141	1028	Y>D		No	ClinGen ExAC gnomAD
rs769993919 CA5877140	1028	Y>F		No	ClinGen ExAC
CA5877137 rs769169590	1029	V>A		No	ClinGen ExAC
rs769169590 CA5877138	1029	V>G		No	ClinGen ExAC
CA217537747 rs201546086	1029	V>M		No	ClinGen Ensembl
CA5877135 rs780152702	1030	M>V		No	ClinGen ExAC TOPMed
CA379601656 rs1368921238	1033	N>S		No	ClinGen TOPMed
CA379601640 rs1554910078	1034	E>*		No	ClinGen Ensembl
CA379601585 rs1425834676	1035	I>M		No	ClinGen TOPMed gnomAD
CA5877133 rs746137626	1035	I>V		No	ClinGen ExAC gnomAD
rs1165986110 CA379601583	1036	T>A		No	ClinGen TOPMed
CA379601563 rs1554910070	1037	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA379601476 rs370045450	1041	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs370045450 CA5877132	1041	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs754401792 CA379601259	1041	K>N		No	ClinGen ExAC TOPMed gnomAD
rs756937624 CA5877131	1041	K>T		No	ClinGen ExAC TOPMed gnomAD
rs765922255 CA5877104	1043	P>L		No	ClinGen ExAC TOPMed gnomAD
rs376362437 CA217537330	1044	C>*		No	ClinGen ESP TOPMed
CA379601207 rs1564878992	1046	R>W		No	ClinGen Ensembl
CA379601200 rs1554909800	1047	W>*		No	ClinGen Ensembl
rs1554909799 CA379601197	1047	W>*		No	ClinGen Ensembl
rs1554909796 CA379601179	1050	K>*		No	ClinGen Ensembl
rs748725183 CA217537326	1050	K>N		No	ClinGen gnomAD
rs1222127193 COSM180282 CA379601164	1052	M>T	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA379601101 rs1370937835	1058	E>*		No	ClinGen gnomAD
rs1370937835 CA379601104	1058	E>K		No	ClinGen gnomAD
rs1218948901 CA379601080	1059	R>Q		No	ClinGen TOPMed
CA379601085 rs1166515980	1059	R>W		No	ClinGen gnomAD
CA379601065 rs1423822576	1060	I>M		No	ClinGen gnomAD
CA5877100 rs761045893	1062	V>A		No	ClinGen ExAC TOPMed gnomAD
rs202070142 CA217537324	1062	V>I		No	ClinGen 1000Genomes TOPMed
CA379601028 rs1554909770	1064	E>*		No	ClinGen Ensembl
CA379600965 rs1554909769	1069	Q>*		No	ClinGen Ensembl
CA5877099 rs775795514	1070	P>L		No	ClinGen ExAC gnomAD
CA379600946 rs775795514	1070	P>R		No	ClinGen ExAC gnomAD
rs1554909763 CA379600941	1071	E>*		No	ClinGen Ensembl
rs1239368727 CA379600915	1073	D>N		No	ClinGen gnomAD
CA379600894 rs1554909757	1074	E>*		No	ClinGen Ensembl
rs1554909754 CA379600847	1077	C>*		No	ClinGen Ensembl
CA379600843 rs570394748	1078	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs117315126 COSM3375982 CA5877096	1078	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs570394748 CA5877097	1078	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5877095 rs771272852	1079	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1053144385 CA217537311	1079	T>P		No	ClinGen Ensembl
CA5877094 rs200941937	1080	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM933007 rs769645688 CA5877092	1081	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA379600787 rs1554909715	1083	Q>*		No	ClinGen Ensembl
CA379600771 rs1554909711	1084	Q>*		No	ClinGen Ensembl
rs369379255 CA5877090	1087	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1089	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379600703 rs1458085733	1089	I>T		No	ClinGen TOPMed gnomAD
rs201701538 CA5877089	1089	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs372833612 CA5877088	1090	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA379600695 rs1334416061	1090	R>W		No	ClinGen gnomAD
TCGA novel	1091	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379600675 rs746229657	1091	R>S		No	ClinGen gnomAD
rs1364300375 CA379600665	1092	L>P		No	ClinGen TOPMed gnomAD
CA379600670 rs1441025227	1092	L>V		No	ClinGen gnomAD
CA217537276 rs915630081	1093	V>I		No	ClinGen TOPMed gnomAD
CA217537273 rs991650387	1094	T>A		No	ClinGen TOPMed
CA5877086 rs758035676	1095	I>V		No	ClinGen ExAC gnomAD
CA5877085 rs750024276	1096	S>P		No	ClinGen ExAC gnomAD
rs1269893314 CA379600611	1099	N>K		No	ClinGen gnomAD
rs1554909688 CA379600607	1100	K>*		No	ClinGen Ensembl
rs1488263355 CA379600588	1101	P>L		No	ClinGen TOPMed gnomAD
CA379600583 rs760988805	1102	K>*		No	ClinGen ExAC TOPMed gnomAD
rs760988805 CA5877083	1102	K>E		No	ClinGen ExAC TOPMed gnomAD
rs757841417 CA5877069	1104	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA597348759 rs1257712178	1107	Q>V		No	ClinGen gnomAD
rs1554909545 CA379600439	1109	Q>*		No	ClinGen Ensembl
rs1344639378 CA379600432	1109	Q>L		No	ClinGen TOPMed gnomAD
rs1554909541 CA379600422	1110	E>*		No	ClinGen Ensembl
CA379600389 rs1340813014	1112	I>M		No	ClinGen TOPMed gnomAD
rs200523654 CA379600375	1114	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA379600370 rs1398503997	1114	E>G		No	ClinGen gnomAD
rs200523654 CA5877066	1114	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5877064 rs767982228	1117	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA379600321 rs1308370183	1118	G>D		No	ClinGen TOPMed
CA5877063 rs755309996	1123	F>L		No	ClinGen ExAC gnomAD
CA379600245 rs752036426	1124	H>D		No	ClinGen ExAC gnomAD
rs1590202396 CA379600239	1124	H>R		No	ClinGen Ensembl
CA5877062 rs752036426	1124	H>Y		No	ClinGen ExAC gnomAD
rs767022905 CA5877061	1125	K>E		No	ClinGen ExAC gnomAD
rs773469813 CA5877059	1125	K>N		No	ClinGen ExAC gnomAD
rs763074637 CA5877060	1125	K>T		No	ClinGen ExAC gnomAD
rs765522114 CA379600218	1126	P>A		No	ClinGen ExAC gnomAD
CA5877058 rs765522114	1126	P>T		No	ClinGen ExAC gnomAD
rs1554909498 CA379600204	1127	E>*		No	ClinGen Ensembl
CA379600188 rs1554909493	1128	K>*		No	ClinGen Ensembl
CA379600183 rs1240871935	1128	K>R		No	ClinGen TOPMed
CA379600173 rs1191052428	1129	E>*		No	ClinGen gnomAD
rs1191052428 CA379600177	1129	E>K		No	ClinGen gnomAD
CA379599290 rs1381160481	1130	R>*	Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA379599285 rs1307631623	1130	R>Q		No	ClinGen TOPMed
rs370059691 CA5877036	1134	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1590201898 CA379599220	1135	L>V		No	ClinGen Ensembl
rs1554909346 CA379599208	1136	L>*		No	ClinGen Ensembl
CA379599204 rs1383649222	1136	L>F		No	ClinGen gnomAD
CA379599184 rs1554909338	1138	C>*		No	ClinGen Ensembl
rs1554909334 CA379599179	1139	G>*		No	ClinGen Ensembl
CA379599171 rs1554909332	1140	E>*		No	ClinGen Ensembl
CA379599137 rs1554909329	1141	C>*		No	ClinGen Ensembl
TCGA novel	1142	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379599115 rs1385586763	1142	G>R		No	ClinGen gnomAD
CA5877035 rs775312488	1144	V>I		No	ClinGen ExAC gnomAD
CA5877034 rs567905657	1145	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5877033 rs567905657	1145	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1468493182 CA379599044	1146	A>P		No	ClinGen TOPMed
CA379598999 rs1554909314	1148	E>*		No	ClinGen Ensembl
CA379598982 rs1366951083	1148	E>G		No	ClinGen gnomAD
CA379598960 rs1554909309	1149	Q>*		No	ClinGen Ensembl
TCGA novel	1149	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379598893 rs1554909301	1152	Q>*		No	ClinGen Ensembl
TCGA novel	1152	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1236249057 CA379598791	1156	K>*		No	ClinGen TOPMed
CA379598757 rs777434155	1157	S>*		No	ClinGen ExAC gnomAD
CA5877029 rs777434155 COSM1203374	1157	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs200559278 CA5877025	1159	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5877024 rs750904491	1160	L>I		No	ClinGen ExAC gnomAD
rs1554909290 CA379598654	1162	K>*		No	ClinGen Ensembl
rs1554909286 CA379598511	1167	W>*		No	ClinGen Ensembl
CA379598434 rs1221036190	1169	F>L		No	ClinGen TOPMed gnomAD
CA379598402 rs779295508	1171	E>*		No	ClinGen ExAC gnomAD
CA5877023 rs779295508	1171	E>K		No	ClinGen ExAC gnomAD
CA379598279 rs1554909155	1172	K>*		No	ClinGen Ensembl
rs1554909152 CA379598239	1174	Q>*		No	ClinGen Ensembl
rs372671648 CA5877007	1174	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1344486389 CA379598217	1175	T>I		No	ClinGen gnomAD
rs1392874056 CA379598185	1177	Y>C		No	ClinGen TOPMed
rs1554909140 CA379598170	1178	E>*		No	ClinGen Ensembl
rs1326757669 CA379598155	1178	E>D		No	ClinGen gnomAD
rs1156841188 CA379598142	1179	T>R		No	ClinGen gnomAD
CA379598114 rs757754604	1181	E>*		No	ClinGen ExAC gnomAD
CA5877005 rs757754604	1181	E>Q		No	ClinGen ExAC gnomAD
CA379598102 rs1554909133	1182	K>*		No	ClinGen Ensembl
rs1554909131 CA379598070	1184	E>*		No	ClinGen Ensembl
rs753923905 CA5877004	1184	E>D		No	ClinGen ExAC gnomAD
rs534189101 CA5877002	1185	V>G		No	ClinGen 1000Genomes ExAC gnomAD
rs777783501 CA5877003	1185	V>I		No	ClinGen ExAC gnomAD
CA379598018 rs1204456090	1187	P>S		No	ClinGen TOPMed
rs1554909129 CA379597995	1188	E>*		No	ClinGen Ensembl
CA379597960 rs144559876	1189	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5877001 rs144559876	1189	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554909124 CA379597882	1191	W>*		No	ClinGen Ensembl
CA379597886 rs1554909126	1191	W>*		No	ClinGen Ensembl
CA217536315 rs987069366	1192	H>Q		No	ClinGen TOPMed gnomAD
rs1380498676 CA379597851	1192	H>R		No	ClinGen gnomAD
CA379597842 rs759277879	1193	T>A		No	ClinGen ExAC gnomAD
rs766305722 CA5876997	1193	T>K		No	ClinGen ExAC gnomAD
rs766305722 CA5876998	1193	T>R		No	ClinGen ExAC gnomAD
CA5876999 rs759277879	1193	T>S		No	ClinGen ExAC gnomAD
CA379597828 rs1554909115	1194	R>*		No	ClinGen Ensembl
rs1222109107 CA379597774	1196	R>Q		No	ClinGen TOPMed gnomAD
CA5876996 rs546431984	1196	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1320246924 CA379597756	1197	N>I		No	ClinGen gnomAD
CA5876994 rs200898623	1197	N>K		No	ClinGen ExAC gnomAD
rs1554909103 CA379597702	1199	C>*		No	ClinGen Ensembl
CA379597696 rs1554909101	1200	R>*		No	ClinGen Ensembl
CA217536302 rs138580044	1200	R>Q		No	ClinGen ESP TOPMed
CA379597645 rs1419410432	1203	T>A		No	ClinGen TOPMed
TCGA novel	1203	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303291533 CA379597625	1204	A>S		No	ClinGen gnomAD
CA5876993 rs761415918	1205	I>T		No	ClinGen ExAC gnomAD
CA5876992 rs202155022	1207	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA379597516 rs1175411729	1210	R>W		No	ClinGen gnomAD
rs774619638 CA5876989	1212	I>V		No	ClinGen ExAC gnomAD
rs937236945 CA217536284	1213	G>S		No	ClinGen TOPMed gnomAD
CA379597367 rs1554909078	1214	K>*		No	ClinGen Ensembl
rs1374621447 CA379597324	1215	D>G		No	ClinGen TOPMed
rs1564877269	1216	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs866752020 CA217536281	1216	G>D		No	ClinGen gnomAD
CA379597287 rs1554909073	1217	K>*		No	ClinGen Ensembl
rs11558096 CA217536275	1218	F>L		No	ClinGen Ensembl
CA5876987 rs749820312	1220	M>T		No	ClinGen ExAC gnomAD
CA379597215 rs1183167809	1220	M>V		No	ClinGen gnomAD
rs1202114329 CA379597170	1222	V>A		No	ClinGen gnomAD
rs778359311 CA5876986	1222	V>L		No	ClinGen ExAC gnomAD
CA379597148 rs1554909068	1223	C>*		No	ClinGen Ensembl
rs1554909067 CA379597138	1224	L>*		No	ClinGen Ensembl
rs1554909065 CA379597120	1225	G>*		No	ClinGen Ensembl
CA217536272 rs765484540	1226	A>V		No	ClinGen Ensembl
rs1459396293 CA379597092	1227	R>*		No	ClinGen gnomAD
TCGA novel	1227	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459396293 CA379597094	1227	R>G		No	ClinGen gnomAD
CA5876968 rs773541650	1228	D>E		No	ClinGen ExAC gnomAD
CA5876969 rs749693016	1228	D>N		No	ClinGen ExAC gnomAD
CA5876967 rs770333258	1229	H>N		No	ClinGen ExAC gnomAD
CA379596563 rs1261264645	1229	H>R		No	ClinGen TOPMed gnomAD
rs1238010745 CA379596509	1234	W>S		No	ClinGen gnomAD
CA379596503 rs1333774399	1235	I>V		No	ClinGen gnomAD
rs1285019943 CA379596493	1236	A>S		No	ClinGen gnomAD
CA379596466 rs1300720783	1239	A>V		No	ClinGen TOPMed gnomAD
rs1554908592 CA379596447	1241	C>*		No	ClinGen Ensembl
CA379596450 rs1457197777	1241	C>Y		No	ClinGen TOPMed
rs781312240 CA5876965	1245	A>T		No	ClinGen ExAC gnomAD
CA5876962 rs780325202	1247	M>I		No	ClinGen ExAC TOPMed gnomAD
CA379596383 rs1554908588	1249	E>*		No	ClinGen Ensembl
rs1554908586 CA379596333	1255	K>*		No	ClinGen Ensembl
TCGA novel	1256	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA379596316 rs1452002855	1257	H>P		No	ClinGen gnomAD
CA379596307 rs1431889841	1258	T>I		No	ClinGen TOPMed gnomAD
CA217535235 rs970287950	1258	T>S		No	ClinGen TOPMed
CA379596296 rs1480217214	1260	V>A		No	ClinGen TOPMed gnomAD
rs758090222 CA5876961	1261	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1554908572 CA379596279	1263	L>*		No	ClinGen Ensembl
rs1447688366 CA379596272	1264	I>F		No	ClinGen gnomAD
CA379596265 rs1262263712	1265	R>C		No	ClinGen gnomAD
rs1015518442 CA217535226 COSM304621	1265	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA379596264 rs1015518442	1265	R>P		No	ClinGen TOPMed
rs1268737299 CA379596262	1266	V>M		No	ClinGen TOPMed
rs1554908566 CA379596249	1268	Q>*		No	ClinGen Ensembl
rs1554908564 CA379596235	1270	L>*		No	ClinGen Ensembl
CA379596230 rs1554908562	1271	Q>*		No	ClinGen Ensembl
rs1554908561 CA379596220	1272	E>*		No	ClinGen Ensembl
CA5876957 rs753394108	1272	E>D		No	ClinGen ExAC gnomAD
rs774762146 CA5876956	1274	N>S		No	ClinGen ExAC TOPMed gnomAD
CA379596204 rs774762146	1274	N>T		No	ClinGen ExAC TOPMed gnomAD
rs760247485 CA5876955	1276	T>M		No	ClinGen ExAC gnomAD
CA379596181 rs1554908549	1278	E>*		No	ClinGen Ensembl
CA5876953 rs187600310	1279	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1381022450 CA379596157	1282	V>L		No	ClinGen gnomAD
CA379596149 rs1554908544	1283	K>*		No	ClinGen Ensembl
CA379596139 rs1245909183	1284	G>A		No	ClinGen TOPMed
CA379596140 rs1245909183	1284	G>D		No	ClinGen TOPMed
rs763204081 CA5876952	1286	D>N		No	ClinGen ExAC TOPMed gnomAD
CA217535182 rs1004244831	1287	I>F		No	ClinGen gnomAD
rs1004244831 CA379596119	1287	I>V		No	ClinGen gnomAD
CA379596109 rs1590198568	1288	I>C		No	ClinGen Ensembl

1 associated diseases with Q6IQ26

[MIM: 617281]: Developmental and epileptic encephalopathy 49 (DEE49)

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE49 is a severe autosomal recessive form characterized by onset of seizures in the neonatal period, global developmental delay, intellectual disability, and additionally cerebral calcifications and coarse facial features. {ECO:0000269|PubMed:27431290, ECO:0000269|PubMed:27866705}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of epileptic encephalopathy, a heterogeneous group of severe early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE49 is a severe autosomal recessive form characterized by onset of seizures in the neonatal period, global developmental delay, intellectual disability, and additionally cerebral calcifications and coarse facial features. {ECO:0000269|PubMed:27431290, ECO:0000269|PubMed:27866705}. Note=The disease is caused by variants affecting the gene represented in this entry.

10 regional properties for Q6IQ26

Type	Name	Position	InterPro Accession
domain	PLAT/LH2 domain	954 - 1062	IPR001024
domain	cDENN domain	202 - 390	IPR001194
domain	RUN domain	787 - 950	IPR004012-1
domain	RUN domain	1134 - 1282	IPR004012-2
domain	dDENN domain	512 - 607	IPR005112
domain	uDENN domain	12 - 138	IPR005113
domain	Tripartite DENN domain	57 - 598	IPR037516
domain	DENN domain-containing protein 5A/B, PLAT/LH2 domain	954 - 1062	IPR047277
domain	DENN domain-containing protein 5A, first RUN domain	742 - 950	IPR047294
domain	DENN domain-containing protein 5A, second RUN domain	1107 - 1282	IPR047295

Functions

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

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
trans-Golgi network	The network of interconnected tubular and cisternal structures located within the Golgi apparatus on the side distal to the endoplasmic reticulum, from which secretory vesicles emerge. The trans-Golgi network is important in the later stages of protein secretion where it is thought to play a key role in the sorting and targeting of secreted proteins to the correct destination.

2 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.
small GTPase binding	Binding to a small monomeric GTPase.

2 GO annotations of biological process

Name	Definition
negative regulation of neuron projection development	Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites).
retrograde transport, endosome to Golgi	The directed movement of membrane-bounded vesicles from endosomes back to the trans-Golgi network where they are recycled for further rounds of transport.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O95248	SBF1	Myotubularin-related protein 5	Homo sapiens (Human)	PR
Q6ZUT9	DENND5B	DENN domain-containing protein 5B	Homo sapiens (Human)	PR
A2RSQ0	Dennd5b	DENN domain-containing protein 5B	Mus musculus (Mouse)	PR
Q6PAL8	Dennd5a	DENN domain-containing protein 5A	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSGGGGGGGS	APSRFADYFV	ICGLDTETGL	EPDELSALCQ	YIQASKARDG	ASPFISSTTE
70	80	90	100	110	120
GENFEQTPLR	RTFKSKVLAR	YPENVEWNPF	DQDAVGMLCM	PKGLAFKTQA	DPREPQFHAF
130	140	150	160	170	180
IITREDGSRT	FGFALTFYEE	VTSKQICSAM	QTLYHMHNAE	YDVLHAPPAD	DRDQSSMEDG
190	200	210	220	230	240
EDTPVTKLQR	FNSYDISRDT	LYVSKCICLI	TPMSFMKACR	SVLEQLHQAV	TSPQPPPLPL
250	260	270	280	290	300
ESYIYNVLYE	VPLPPPGRSL	KFSGVYGPII	CQRPSTNELP	LFDFPVKEVF	ELLGVENVFQ
310	320	330	340	350	360
LFTCALLEFQ	ILLYSQHYQR	LMTVAETITA	LMFPFQWQHV	YVPILPASLL	HFLDAPVPYL
370	380	390	400	410	420
MGLHSNGLDD	RSKLELPQEA	NLCFVDIDNH	FIELPEDLPQ	FPNKLEFVQE	VSEILMAFGI
430	440	450	460	470	480
PPEGNLHCSE	SASKLKRLRA	SELVSDKRNG	NIAGSPLHSY	ELLKENETIA	RLQALVKRTG
490	500	510	520	530	540
VSLEKLEVRE	DPSSNKDLKV	QCDEEELRIY	QLNIQIREVF	ANRFTQMFAD	YEVFVIQPSQ
550	560	570	580	590	600
DKESWFTNRE	QMQNFDKASF	LSDQPEPYLP	FLSRFLETQM	FASFIDNKIM	CHDDDDKDPV
610	620	630	640	650	660
LRVFDSRVDK	IRLLNVRTPT	LRTSMYQKCT	TVDEAEKAIE	LRLAKIDHTA	IHPHLLDMKI
670	680	690	700	710	720
GQGKYEPGFF	PKLQSDVLST	GPASNKWTKR	NAPAQWRRKD	RQKQHTEHLR	LDNDQREKYI
730	740	750	760	770	780
QEARTMGSTI	RQPKLSNLSP	SVIAQTNWKF	VEGLLKECRN	KTKRMLVEKM	GREAVELGHG
790	800	810	820	830	840
EVNITGVEEN	TLIASLCDLL	ERIWSHGLQV	KQGKSALWSH	LLHYQDNRQR	KLTSGSLSTS
850	860	870	880	890	900
GILLDSERRK	SDASSLMPPL	RISLIQDMRH	IQNIGEIKTD	VGKARAWVRL	SMEKKLLSRH
910	920	930	940	950	960
LKQLLSDHEL	TKKLYKRYAF	LRCDDEKEQF	LYHLLSFNAV	DYFCFTNVFT	TILIPYHILI
970	980	990	1000	1010	1020
VPSKKLGGSM	FTANPWICIS	GELGETQIMQ	IPRNVLEMTF	ECQNLGKLTT	VQIGHDNSGL
1030	1040	1050	1060	1070	1080
YAKWLVEYVM	VRNEITGHTY	KFPCGRWLGK	GMDDGSLERI	LVGELLTSQP	EVDERPCRTP
1090	1100	1110	1120	1130	1140
PLQQSPSVIR	RLVTISPNNK	PKLNTGQIQE	SIGEAVNGIV	KHFHKPEKER	GSLTLLLCGE
1150	1160	1170	1180	1190	1200
CGLVSALEQA	FQHGFKSPRL	FKNVFIWDFL	EKAQTYYETL	EKNEVVPEEN	WHTRARNFCR
1210	1220	1230	1240	1250	1260
FVTAINNTPR	NIGKDGKFQM	LVCLGARDHL	LHHWIALLAD	CPITAHMYED	VALIKDHTLV
1270	1280
NSLIRVLQTL	QEFNITLETS	LVKGIDI