AiPD: Autoinhibited Protein Database

Q9BZ29

Gene name	DOCK9
Protein name	Dedicator of cytokinesis protein 9
Names	Cdc42 guanine nucleotide exchange factor zizimin-1, Zizimin-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23348
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1203-1273 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1203-1273 (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

5 structures for Q9BZ29

Entry ID	Method	Resolution	Chain	Position	Source
1WG7	NMR	-	A	165-301	PDB
2WM9	X-ray	220 A	A	1605-2067	PDB
2WMN	X-ray	239 A	A	1605-2067	PDB
2WMO	X-ray	220 A	A	1605-2067	PDB
AF-Q9BZ29-F1	Predicted				AlphaFoldDB

1310 variants for Q9BZ29

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002540835 RCV000911921 CA7029820 rs200500566	758	S>A	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA388689282 rs1206428940	2	S>A		No	ClinGen TOPMed gnomAD
CA388689281 rs1206428940	2	S>T		No	ClinGen TOPMed gnomAD
rs1268176010 CA388689260	5	P>Q		No	ClinGen TOPMed gnomAD
rs1268176010 CA388689259	5	P>R		No	ClinGen TOPMed gnomAD
CA255832162 rs989721601	5	P>T		No	ClinGen TOPMed
rs957931615 CA255832160	7	L>F		No	ClinGen TOPMed gnomAD
CA388689249 rs1187924895	7	L>P		No	ClinGen Ensembl
CA388689239 rs1320390249	9	A>S		No	ClinGen gnomAD
CA7030509 rs560254467	9	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs754559297 CA388689233	10	S>L		No	ClinGen ExAC TOPMed gnomAD
rs754559297 CA7030508	10	S>W		No	ClinGen ExAC TOPMed gnomAD
CA255832156 rs978058653	11	A>V		No	ClinGen TOPMed gnomAD
CA388689220 rs1434640527	12	E>D		No	ClinGen gnomAD
rs1389726799 CA388689213	13	T>I		No	ClinGen TOPMed gnomAD
rs1389726799 CA388689214	13	T>S		No	ClinGen TOPMed gnomAD
rs1322585175 CA388689200	15	K>N		No	ClinGen gnomAD
rs117633128 CA7030507	18	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388689181 rs1366578034	19	A>T		No	ClinGen gnomAD
CA388689167 rs1164014772	21	S>N		No	ClinGen gnomAD
rs1424390998 CA388689153	23	P>A		No	ClinGen gnomAD
CA388689149 rs1197844880	23	P>L		No	ClinGen TOPMed
CA388689152 rs1424390998	23	P>S		No	ClinGen gnomAD
CA388689145 rs1186490315	24	G>D		No	ClinGen gnomAD
CA388689142 rs1375772619	25	T>A		No	ClinGen TOPMed
CA388689108 rs1380987717	30	R>P		No	ClinGen TOPMed
CA7030506 rs555962759	32	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388689093 rs1487219727	32	S>R		No	ClinGen TOPMed gnomAD
CA388689078 rs1265312356	35	E>Q		No	ClinGen gnomAD
rs538126608 CA255832147	39	G>R		No	ClinGen 1000Genomes gnomAD
rs1010706221 CA255832143	41	V>L		No	ClinGen TOPMed gnomAD
CA388689041 rs1010706221	41	V>M		No	ClinGen TOPMed gnomAD
rs1343584458 CA388689035	42	L>F		No	ClinGen gnomAD
rs899923511 CA388689034	42	L>H		No	ClinGen TOPMed gnomAD
rs899923511 CA255832140	42	L>P		No	ClinGen TOPMed gnomAD
CA255832136 rs893624379	43	L>M		No	ClinGen gnomAD
rs1006038768 CA255832135	43	L>P		No	ClinGen TOPMed
rs781603447 CA388688696	44	A>E		No	ClinGen ExAC TOPMed gnomAD
CA7030416 rs781603447	44	A>V		No	ClinGen ExAC TOPMed gnomAD
CA388688693 rs1595622579	45	K>E		No	ClinGen Ensembl
CA388688688 rs1308349298	45	K>N		No	ClinGen gnomAD
CA388688684 rs1225777793	46	P>T		No	ClinGen gnomAD
rs267603877 CA7030415	48	L>V		No	ClinGen ExAC gnomAD
rs1330627333 CA388688664	49	I>T		No	ClinGen gnomAD
CA255808715 rs1012922585	50	E>K		No	ClinGen TOPMed
CA388688652 rs1302697726	51	P>S		No	ClinGen gnomAD
rs752026995 CA7030414	52	L>P		No	ClinGen ExAC gnomAD
COSM1587212 CA388688643 COSM949221 rs1318565875	53	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1159761064 CA388688603	58	I>L		No	ClinGen TOPMed gnomAD
CA388688599 rs368512761	58	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159761064 CA388688604	58	I>V		No	ClinGen TOPMed gnomAD
CA7030410 rs533139175	59	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA255808714 rs999332443	60	Q>R		No	ClinGen TOPMed gnomAD
rs1244631424 CA388688582	61	K>R		No	ClinGen gnomAD
rs1331113388 CA388688572	62	K>N		No	ClinGen TOPMed
rs772848279 CA7030408	62	K>R		No	ClinGen ExAC gnomAD
rs771773842 CA388688538	67	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1218549836 CA388688537	68	D>N		No	ClinGen gnomAD
CA7030405 rs774133664	71	R>L		No	ClinGen ExAC gnomAD
CA7030406 rs761470849	71	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7030404 rs768371167	73	M>V		No	ClinGen ExAC gnomAD
rs1388781297 CA388688488	75	L>F		No	ClinGen TOPMed gnomAD
CA388688479 rs1385209408	76	F>C		No	ClinGen gnomAD
rs1295683079 CA388688466	78	Y>C		No	ClinGen gnomAD
CA255808712 rs866581683	82	Q>*		No	ClinGen Ensembl
rs866581683 CA255808713	82	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs201475039 CA7030382	83	T>K		No	ClinGen ExAC TOPMed gnomAD
rs201475039 CA7030381	83	T>M		No	ClinGen ExAC TOPMed gnomAD
rs560328551 CA7030379	85	I>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1595416307 CA388601433	85	I>V		No	ClinGen Ensembl
rs1330301651 CA388601415	88	R>*		No	ClinGen TOPMed gnomAD
rs199901746 CA7030377	88	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755413763 CA7030375	89	Q>H		No	ClinGen ExAC gnomAD
rs1340273214 CA388601409	89	Q>P		No	ClinGen TOPMed gnomAD
rs1340273214 CA388601408	89	Q>R		No	ClinGen TOPMed gnomAD
CA7030373 rs754378080	90	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7030371 rs376425871	91	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs373916117 CA7030370	91	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs373916117 CA388601399	91	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1305896152 CA388601393	92	Y>C		No	ClinGen TOPMed gnomAD
CA388601396 rs1174328068	92	Y>H		No	ClinGen TOPMed
rs1299538165 CA388601383	93	I>M		No	ClinGen gnomAD
CA388601388 rs1396684876	93	I>V		No	ClinGen gnomAD
rs1300490840 CA388601377	94	C>F		No	ClinGen TOPMed
rs1464283870 CA388601369	95	S>L		No	ClinGen gnomAD
CA7030368 rs775087973	99	A>E		No	ClinGen ExAC TOPMed gnomAD
rs775087973 CA7030367	99	A>V		No	ClinGen ExAC TOPMed gnomAD
rs759505702 CA7030365	101	A>S		No	ClinGen ExAC gnomAD
CA7030364 rs776731323	101	A>V		No	ClinGen ExAC TOPMed gnomAD
rs747124700 CA7030362	105	A>G		No	ClinGen ExAC TOPMed gnomAD
rs369460777 CA7030361	106	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA388601293 COSM1587213 COSM949217 rs1263812694	107	S>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1345692871 CA388601290	108	L>M		No	ClinGen TOPMed
rs1325547046 CA388601271	110	V>A		No	ClinGen gnomAD
CA388601275 rs1242198385	110	V>L		No	ClinGen TOPMed
rs748409347 CA7030359	111	T>I		No	ClinGen ExAC gnomAD
CA388600704 rs1161789310	114	I>M		No	ClinGen gnomAD
CA388600709 rs1387809184	114	I>V		No	ClinGen gnomAD
CA255317289 rs891190858	117	Y>C		No	ClinGen TOPMed gnomAD
rs1185641991 CA388600669	119	S>C		No	ClinGen TOPMed gnomAD
rs1185641991 CA388600671	119	S>F		No	ClinGen TOPMed gnomAD
rs1447963441 CA388600643	121	W>C		No	ClinGen gnomAD
CA388600633 rs1194055906	122	H>L		No	ClinGen gnomAD
rs1241564291 CA388600641	122	H>N		No	ClinGen gnomAD
rs1447470657 CA388600628	123	L>F		No	ClinGen gnomAD
CA388600617 rs1207784995	124	V>L		No	ClinGen TOPMed gnomAD
rs1207784995 CA388600620	124	V>M		No	ClinGen TOPMed gnomAD
rs1358445923 CA388600609	125	N>D		No	ClinGen gnomAD
CA388600604 rs1387011930	125	N>I		No	ClinGen TOPMed
rs1292310460 CA388600600	125	N>K		No	ClinGen TOPMed gnomAD
rs1247673512 CA388600591	126	Y>C		No	ClinGen gnomAD
rs1269033802 CA388600567	128	Y>C		No	ClinGen TOPMed gnomAD
rs867009890 CA255317280	133	G>E		No	ClinGen TOPMed gnomAD
CA7030341 rs772228681	134	E>Q		No	ClinGen ExAC gnomAD
CA388600470 rs1441557316	136	R>G		No	ClinGen TOPMed
rs558868727 CA7030339	136	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA7030340 rs558868727	136	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs375741398 CA7030338	139	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs750399939 CA7030320	140	N>K		No	ClinGen ExAC gnomAD
CA388600292 rs1411928845	148	L>F		No	ClinGen TOPMed gnomAD
rs1411928845 CA388600294	148	L>I		No	ClinGen TOPMed gnomAD
CA388600293 rs1411928845	148	L>V		No	ClinGen TOPMed gnomAD
CA7030319 rs767475720	149	P>L		No	ClinGen ExAC gnomAD
rs1423111166 CA388600286	149	P>S		No	ClinGen gnomAD
CA388600283 rs1336323061	150	V>F		No	ClinGen gnomAD
CA388600274 rs1394790689	151	H>P		No	ClinGen TOPMed gnomAD
CA7030318 COSM432663 rs761997091 COSM1477358	152	V>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA388600245 rs1468423923	155	V>A		No	ClinGen TOPMed gnomAD
rs774547381 CA7030317	155	V>I		No	ClinGen ExAC gnomAD
rs777361753 CA255316218	157	E>K		No	ClinGen Ensembl
rs770223678 CA7030313	160	D>N		No	ClinGen ExAC TOPMed gnomAD
CA388600203 rs1202510819	161	K>R		No	ClinGen gnomAD
rs1285329791 CA388600007	165	A>V		No	ClinGen TOPMed gnomAD
CA388600004 rs1225859777	166	A>S		No	ClinGen gnomAD
rs1485285613 CA388599995	166	A>V		No	ClinGen gnomAD
rs1314652051 CA388599970	169	G>A		No	ClinGen TOPMed gnomAD
CA7030294 rs201914404	170	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1385083742 CA388599934	172	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1393398872 CA388599928	173	G>C		No	ClinGen TOPMed
CA388599901 rs1318668358	174	G>E		No	ClinGen gnomAD
rs765496722 CA7030293	178	H>R		No	ClinGen ExAC
CA388599846 rs1329787059	179	G>S		No	ClinGen TOPMed
rs1159515108 CA388599824	180	W>*		No	ClinGen gnomAD
CA388599771 rs1383213871	183	K>R		No	ClinGen gnomAD
CA388599753 rs1162530317	184	G>D		No	ClinGen gnomAD
rs1444904918 CA388599721	186	M>V		No	ClinGen TOPMed gnomAD
rs1184277147 CA388599668	188	S>N		No	ClinGen gnomAD
CA388599655 rs1485802218	189	A>S		No	ClinGen gnomAD
rs1243200944 CA388599637	190	I>V		No	ClinGen TOPMed gnomAD
CA388599597 rs1357729086	192	V>L		No	ClinGen gnomAD
rs1357729086 CA388599600	192	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1233080501 CA388599580	193	T>S		No	ClinGen TOPMed
CA7030291 rs377047428	194	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs776988034 CA7030274	197	F>L		No	ClinGen ExAC gnomAD
rs1411987475 CA388599444	198	K>N		No	ClinGen TOPMed gnomAD
rs1296083398 CA388599441	199	R>G		No	ClinGen gnomAD
rs766883642 CA7030273	200	R>*		No	ClinGen ExAC gnomAD
CA388599433 rs1354584031	200	R>Q		No	ClinGen gnomAD
rs994851709 CA255315370	202	F>L		No	ClinGen TOPMed gnomAD
rs761217296 CA7030272	203	H>Y		No	ClinGen ExAC gnomAD
CA7030271 rs569742067	208	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7030267 rs769425730	212	Y>C		No	ClinGen ExAC gnomAD
rs752934141 CA255315354	214	L>M		No	ClinGen Ensembl
CA388599229 rs1201883311	218	K>T		No	ClinGen gnomAD
CA255315336 rs867926245	221	K>R		No	ClinGen Ensembl
CA388599175 rs1327611285	222	I>L		No	ClinGen TOPMed
rs770733511 CA7030264	222	I>T		No	ClinGen ExAC gnomAD
rs746925676 CA7030263	224	K>E		No	ClinGen ExAC gnomAD
CA388599144 rs777727570	224	K>I		No	ClinGen ExAC TOPMed gnomAD
rs777727570 CA7030262	224	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1441967365 CA388599123	226	P>S		No	ClinGen TOPMed
CA388599062 rs1329433777	230	I>T		No	ClinGen TOPMed
rs1390444054 CA388599068	230	I>V		No	ClinGen gnomAD
rs1332745345 CA388599018	236	M>T		No	ClinGen gnomAD
CA388599008 rs1280679105	237	G>A		No	ClinGen TOPMed
CA7030259 rs141830266	239	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755188661 CA7030258	240	Q>E		No	ClinGen ExAC gnomAD
rs1243801376 CA388598442	244	V>G		No	ClinGen gnomAD
rs1185527941 CA388598424	246	R>C		No	ClinGen gnomAD
rs754057637 CA7030238	246	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1466848812 CA388598394	250	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs367605601 CA7030234	261	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA388598301 rs1243291254	263	A>T		No	ClinGen gnomAD
CA255313049 rs374286947	264	D>E		No	ClinGen ESP TOPMed gnomAD
rs762344306 CA7030233	267	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1315088574 CA388598266	268	E>Q		No	ClinGen gnomAD
CA388598254 rs1325134589	269	M>I		No	ClinGen gnomAD
rs1045632891 CA255313048	269	M>V		No	ClinGen TOPMed gnomAD
rs752031673 CA7030232	272	W>C		No	ClinGen ExAC gnomAD
CA388598214 rs1282208501	274	T>A		No	ClinGen TOPMed
rs1301739239 CA388598144	280	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs751232408 CA7030229	283	N>S		No	ClinGen ExAC TOPMed gnomAD
rs894305802 CA255313034	286	A>G		No	ClinGen TOPMed
CA388598079 rs770629242	286	A>S		No	ClinGen ExAC TOPMed gnomAD
rs770629242 CA7030228	286	A>T		No	ClinGen ExAC TOPMed gnomAD
rs772951305 CA7030227 CA7030226	288	M>I		No	ClinGen ExAC gnomAD
rs1474475781 CA388598043	289	Q>P		No	ClinGen TOPMed gnomAD
rs771784754 CA7030225	292	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA255313013 rs765831165	292	R>L		No	ClinGen ExAC TOPMed gnomAD
rs765831165 CA7030224	292	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7030223 rs143122739	293	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA7030222 rs768773556	294	G>D		No	ClinGen ExAC gnomAD
rs780289537 CA7030220	295	D>N		No	ClinGen ExAC TOPMed gnomAD
rs750304480 CA255312990	296	S>F		No	ClinGen Ensembl
rs1229729407 CA388597951	298	E>K		No	ClinGen gnomAD
rs1277016798 CA388597322	300	D>Y		No	ClinGen gnomAD
rs1335429001 CA388597297	302	Q>E		No	ClinGen gnomAD
rs796084088 CA255312344	302	Q>R		No	ClinGen Ensembl
CA7030202 rs749246954	307	G>A		No	ClinGen ExAC TOPMed gnomAD
CA388597234 rs1467260489	307	G>S		No	ClinGen gnomAD
rs979082929 COSM3721550 COSM3721553 CA255312337	309	G>D	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs866248682 CA255312333	310	S>F		No	ClinGen Ensembl
CA7030198 rs781311006	311	G>D		No	ClinGen ExAC TOPMed gnomAD
CA7030199 rs373597717	311	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1231962859 CA388597174	313	D>A		No	ClinGen gnomAD
rs1191517870 CA388597158	314	S>T		No	ClinGen gnomAD
rs757638636 CA7030197	315	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA388597134 rs1260780184	317	P>A		No	ClinGen TOPMed gnomAD
CA7030196 rs747392034	317	P>L		No	ClinGen ExAC gnomAD
CA388597136 rs1260780184	317	P>S		No	ClinGen TOPMed gnomAD
CA388597126 rs1281117985	318	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1222427968 CA388597098	320	A>V		No	ClinGen gnomAD
rs1298634667 CA388596111	322	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7030174 rs755605591	326	A>T		No	ClinGen ExAC gnomAD
rs749875109 CA7030173	326	A>V		No	ClinGen ExAC gnomAD
rs1280066017 CA388596041	327	E>D		No	ClinGen TOPMed
CA388596039 rs1423876157	328	I>V		No	ClinGen gnomAD
CA255305869 rs768929957	329	K>Q		No	ClinGen TOPMed gnomAD
CA7030172 rs375207935	332	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242310660 CA388595973	333	E>K		No	ClinGen TOPMed
CA255305863 rs868790830	335	R>I		No	ClinGen Ensembl
CA7030171 rs756823386	336	V>I		No	ClinGen ExAC TOPMed gnomAD
rs559482285 CA388595923	337	K>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA388595921 rs1454658859	337	K>N		No	ClinGen TOPMed
rs559482285 CA255305857	337	K>R		No	ClinGen 1000Genomes TOPMed gnomAD
rs559482285 CA388595924	337	K>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA255305854 rs751251136	338	L>F		No	ClinGen ExAC TOPMed gnomAD
rs751251136 CA7030170	338	L>V		No	ClinGen ExAC TOPMed gnomAD
rs763777876 CA7030169	340	Y>N		No	ClinGen ExAC gnomAD
rs1402213742 CA388595865	342	D>E		No	ClinGen TOPMed
CA255305845 rs866945282	343	P>Q		No	ClinGen Ensembl
CA388595835 rs1339788445	345	A>P		No	ClinGen gnomAD
rs1278526703 CA388595825	345	A>V		No	ClinGen gnomAD
rs1489617537 CA388595692	348	L>V		No	ClinGen gnomAD
CA388595640 rs1249641964	352	S>P		No	ClinGen gnomAD
rs200348420 CA7030160	353	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA388595616 rs1317160832	354	E>Q		No	ClinGen TOPMed gnomAD
CA388595594 rs1258615748	355	P>L		No	ClinGen gnomAD
CA7030159 rs748567026	356	E>K		No	ClinGen ExAC gnomAD
CA7030157 rs367756597	360	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA388595503 rs1295881664	362	E>D		No	ClinGen TOPMed gnomAD
CA388595513 rs1369320183	362	E>K		No	ClinGen gnomAD
rs889766785 CA255305120	366	K>R		No	ClinGen TOPMed
rs1566916642 CA388595440	367	R>M		No	ClinGen Ensembl
rs1464664088 CA388595429	368	I>V		No	ClinGen TOPMed gnomAD
CA255305119 rs868753852	371	K>N		No	ClinGen gnomAD
CA388595381 rs1330289845	372	C>S		No	ClinGen TOPMed
CA7030156 rs749829977	372	C>Y		No	ClinGen ExAC gnomAD
CA7030155 rs561287412	373	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1248915127 CA388595361	373	N>S		No	ClinGen TOPMed gnomAD
CA255305113 rs549360944	380	Q>R		No	ClinGen 1000Genomes
CA388595231 rs1241979164	382	C>Y		No	ClinGen TOPMed gnomAD
CA7030154 rs756844781	384	A>D		No	ClinGen ExAC gnomAD
CA7030153 rs751143449	385	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1240148130 CA388595191	386	N>D		No	ClinGen gnomAD
CA388595171 rs1212147325	387	E>G		No	ClinGen TOPMed
rs1321352719 CA388595130	390	P>R		No	ClinGen TOPMed gnomAD
rs1255152258 CA388595126	391	T>A		No	ClinGen gnomAD
rs1196887625 CA388595116	392	T>A		No	ClinGen TOPMed
CA7030151 rs758255235	392	T>R		No	ClinGen ExAC TOPMed
CA388594284 rs1339423406	396	P>L		No	ClinGen gnomAD
rs769034683 CA7030133	397	F>L		No	ClinGen ExAC TOPMed gnomAD
CA388594274 rs1335441949	397	F>S		No	ClinGen gnomAD
rs866382978 CA255304803	399	V>F		No	ClinGen Ensembl
rs749741563 CA7030132	400	T>S		No	ClinGen ExAC gnomAD
rs776107801 CA7030131	401	L>V		No	ClinGen ExAC gnomAD
rs371329273 CA7030130	402	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7030128 rs777440994	406	I>V		No	ClinGen ExAC gnomAD
CA388594098 rs1316823921	409	N>K		No	ClinGen TOPMed
CA388594105 rs1472502467	409	N>S		No	ClinGen gnomAD
CA7030126 rs377750819	410	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs758058644 CA7030127	410	R>W		No	ClinGen ExAC TOPMed gnomAD
rs200221640 CA7030124	412	I>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7030125 rs778828033	412	I>V		No	ClinGen ExAC gnomAD
CA7030122 rs540167810	415	D>N		No	ClinGen ExAC gnomAD
rs1287736514 CA388593955	417	H>Y		No	ClinGen TOPMed gnomAD
rs750433698 CA7030120	418	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774608605 CA7030117	422	H>R		No	ClinGen ExAC TOPMed gnomAD
rs764415163 COSM1587215 COSM949209 CA7030116	423	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1291974693 CA388593797	425	V>A		No	ClinGen TOPMed
rs775850785 CA7030114	427	Q>E		No	ClinGen ExAC
rs1430190692 CA388593755	427	Q>R		No	ClinGen gnomAD
rs1301521595 CA388593739	428	M>T		No	ClinGen gnomAD
rs746368044 CA7030112	430	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388593689 rs1266418557	432	T>A		No	ClinGen TOPMed
rs772808471 CA7030111	432	T>M		No	ClinGen ExAC gnomAD
rs112610686 CA7030108	434	P>L		No	ClinGen ExAC TOPMed gnomAD
RCV000455563 CA7030107 rs62620184	435	A>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1196275057 CA388593576	439	G>S		No	ClinGen TOPMed gnomAD
rs1450703948 CA388593568	439	G>V		No	ClinGen gnomAD
rs1364087947 CA388593561	440	S>G		No	ClinGen TOPMed
CA388593549 rs1431303151	440	S>I		No	ClinGen TOPMed
CA7030106 rs749052968	441	G>E		No	ClinGen ExAC gnomAD
rs779715450 CA7030105	442	Q>K		No	ClinGen ExAC gnomAD
CA388593508 rs1308227107	443	S>G		No	ClinGen TOPMed
CA7030103 rs375724712	444	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA388593469 rs1219856850	445	S>F		No	ClinGen TOPMed gnomAD
rs1342738475 CA388593451	447	L>F		No	ClinGen gnomAD
CA388593438 rs1435966174	448	K>R		No	ClinGen gnomAD
CA7030102 rs557421445	449	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA255304630 rs904055290	451	L>H		No	ClinGen TOPMed
rs201567092 CA7030100	452	H>R		No	ClinGen ExAC TOPMed gnomAD
CA388593377 rs1399726263	454	A>P		No	ClinGen gnomAD
rs1399726263 CA388593375	454	A>T		No	ClinGen gnomAD
rs56010605 CA255304629	455	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs56010605 COSM1952686 COSM1952683 CA7030098 VAR_062000	455	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7030095 rs760040855 CA7030096	456	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA7030097 rs753041607	456	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1183491868 CA388593336	457	Q>P		No	ClinGen TOPMed
rs777316590 CA7030094	459	P>A		No	ClinGen ExAC gnomAD
rs369767955 CA7030093	459	P>L	Variant assessed as Somatic; 4.679e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1353293927 CA388593252	462	G>E		No	ClinGen gnomAD
CA7030075 rs199698494	463	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388593214 rs1380747131	465	S>L		No	ClinGen gnomAD
CA7030073 rs773869027	467	T>S		No	ClinGen ExAC gnomAD
CA388593169 rs1335961037	470	H>D		No	ClinGen gnomAD
rs1417437777 CA388593159	471	P>S		No	ClinGen gnomAD
CA388593148 rs1595135467	472	D>H		No	ClinGen Ensembl
rs1595135404 CA388593131	473	I>T		No	ClinGen Ensembl
rs768070978 CA7030071	473	I>V		No	ClinGen ExAC gnomAD
rs762640525 CA7030070	474	F>L		No	ClinGen ExAC TOPMed gnomAD
CA388593094 rs1411084837	477	A>S		No	ClinGen gnomAD
rs745722473 CA7030067	478	R>K		No	ClinGen ExAC gnomAD
CA388593071 rs1364714445	479	I>V		No	ClinGen TOPMed
CA7030066 rs780981776	480	E>A		No	ClinGen ExAC gnomAD
CA7030065 rs371750332	481	K>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA388593005 rs1219151084	485	G>R		No	ClinGen gnomAD
rs758458203 CA7030062	488	T>I		No	ClinGen ExAC gnomAD
CA7030059 rs755263905	491	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388592898 rs1285670901	494	Y>F		No	ClinGen gnomAD
rs1247623937 CA388592881	495	M>I		No	ClinGen TOPMed
rs1397932564 CA388592886	495	M>T		No	ClinGen gnomAD
CA388592861 rs1293030577	497	S>N		No	ClinGen TOPMed
rs1339664505 CA388592847	498	S>*		No	ClinGen gnomAD
CA7030058 rs754187654	499	D>N		No	ClinGen ExAC gnomAD
CA7030057 rs766877769	500	S>P		No	ClinGen ExAC gnomAD
rs1465605307 CA388592599	504	A>G		No	ClinGen gnomAD
rs867391918 CA255302685	509	K>R		No	ClinGen Ensembl
CA388592556 rs1173316594	510	N>K		No	ClinGen gnomAD
rs1431590004 CA388592536	513	Q>L		No	ClinGen gnomAD
CA388592533 rs1266959298	514	A>T		No	ClinGen gnomAD
rs1566899726 CA388592524	515	C>Y		No	ClinGen Ensembl
CA7030039 rs756583739	520	Q>*		No	ClinGen ExAC gnomAD
CA388592468 rs1310275893	523	M>T		No	ClinGen gnomAD
rs1229353357 CA388592470	523	M>V		No	ClinGen gnomAD
rs879225504 CA255302670	526	A>V		No	ClinGen Ensembl
CA255302667 rs750671935	529	A>G		No	ClinGen TOPMed gnomAD
CA255302464 rs764574342	532	L>V		No	ClinGen TOPMed
CA7030026 rs774520246	536	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1407965867 CA388592364	536	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA7030024 rs749488645	540	L>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7030023 rs780487680	540	L>R		No	ClinGen ExAC gnomAD
rs1309784102 CA388592320	543	N>S		No	ClinGen gnomAD
rs761249020 CA255302403	543	N>Y		No	ClinGen Ensembl
CA388592285 rs1394845327	548	A>G		No	ClinGen gnomAD
CA7030022 rs770273220	550	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs372471985 CA255302394	554	S>G		No	ClinGen ESP TOPMed
rs781626378 CA7030020	554	S>N		No	ClinGen ExAC TOPMed gnomAD
CA388592232 rs1339170702	555	N>K		No	ClinGen TOPMed
CA255302386 rs568770789	555	N>S		No	ClinGen Ensembl
CA7030019 rs757668832	557	L>P		No	ClinGen ExAC
CA388592175 rs1280308714	560	D>V		No	ClinGen TOPMed
rs754523962 CA7030016	562	M>T		No	ClinGen ExAC gnomAD
rs753486306 CA7030015	563	L>H		No	ClinGen ExAC TOPMed gnomAD
CA388592118 rs1200828599	565	L>V		No	ClinGen gnomAD
rs760378244 CA7030013	567	A>G		No	ClinGen ExAC TOPMed gnomAD
CA388592077 rs1283425697	568	D>E		No	ClinGen gnomAD
rs977729967 CA255302353	569	F>L		No	ClinGen TOPMed gnomAD
rs1595094254 CA388592061	570	R>Q		No	ClinGen Ensembl
rs750144974 CA7030012	570	R>W		No	ClinGen ExAC gnomAD
CA388592050 rs1262031693	571	K>R		No	ClinGen gnomAD
CA388590842 rs1235716470	575	M>V		No	ClinGen gnomAD
rs778319678 CA7029999	576	A>V		No	ClinGen ExAC gnomAD
CA388590782 rs1348933985	579	P>A		No	ClinGen TOPMed
CA388590717 rs1400795255	583	G>V		No	ClinGen gnomAD
CA388590665 rs1386273014	587	I>V		No	ClinGen gnomAD
rs1391629952 CA388590635	589	I>T		No	ClinGen TOPMed gnomAD
rs753277189 CA7029997	591	N>S		No	ClinGen ExAC TOPMed gnomAD
CA255298296 rs373458404	593	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
rs779570524 CA7029996	596	F>S		No	ClinGen ExAC gnomAD
CA388590523 rs779570524	596	F>Y		No	ClinGen ExAC gnomAD
CA7029995 rs755672176	597	P>S		No	ClinGen ExAC TOPMed gnomAD
CA388590509 rs750136091	598	N>D		No	ClinGen ExAC gnomAD
CA7029994 rs750136091	598	N>H		No	ClinGen ExAC gnomAD
CA7029985 rs375611418	599	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7029984 rs769943506	603	S>A		No	ClinGen ExAC gnomAD
rs1324643813 CA388590387	603	S>L		No	ClinGen TOPMed
CA7029983 rs759655858	604	Y>C		No	ClinGen ExAC gnomAD
rs1330655269 CA388590358	606	P>L		No	ClinGen gnomAD
CA388590360 rs1442985482	606	P>S		No	ClinGen TOPMed
CA388590354 rs1410315322	607	T>P		No	ClinGen gnomAD
rs776952962 CA7029982	607	T>R		No	ClinGen ExAC gnomAD
CA7029981 rs771198016	608	K>N		No	ClinGen ExAC gnomAD
rs1477504243 CA388590310	610	F>S		No	ClinGen gnomAD
rs1303932449 CA388590300	611	E>K		No	ClinGen TOPMed
rs747433928 CA388590220	614	S>C		No	ClinGen ExAC gnomAD
CA7029980 rs747433928	614	S>G		No	ClinGen ExAC gnomAD
rs373710937 CA7029979	614	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7029978 rs369147757	615	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs779408044 CA7029976	618	I>L		No	ClinGen ExAC gnomAD
rs1258916993 CA388590114	619	T>A		No	ClinGen gnomAD
rs755685954 COSM4150712 CA7029975 COSM4150708	619	T>M	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1200041795 CA388590038	622	V>L		No	ClinGen gnomAD
rs201435106 CA7029974	623	E>G		No	ClinGen ExAC TOPMed gnomAD
CA388589947 rs1595004390	628	C>R		No	ClinGen Ensembl
rs780952883 CA7029973	630	P>Q		No	ClinGen ExAC gnomAD
rs1009502983 CA255298203	632	H>Q		No	ClinGen TOPMed gnomAD
rs376943227 CA7029972	633	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7029971 rs376943227	633	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs573972538 CA7029970	638	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388589756 rs1442897492	640	T>A		No	ClinGen gnomAD
CA255298202 rs1040213063	640	T>I		No	ClinGen TOPMed gnomAD
rs1040213063 CA388589751	640	T>S		No	ClinGen TOPMed gnomAD
rs1365219954 CA388589728	641	N>S		No	ClinGen TOPMed
CA7029966 rs759730205	645	V>I		No	ClinGen ExAC TOPMed gnomAD
CA388589633 rs1463011885	647	P>A		No	ClinGen TOPMed
rs776706349 CA7029965	647	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1178260612 CA388589554	649	Y>F		No	ClinGen gnomAD
rs200717748 CA7029964	649	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1187294513 CA388589493	652	Y>C		No	ClinGen gnomAD
rs1187294513 CA388589491	652	Y>F		No	ClinGen gnomAD
rs1279074857 CA388589480	653	D>Y		No	ClinGen TOPMed
CA388589460 rs1282729590	654	S>N		No	ClinGen gnomAD
rs1353042432 CA388589423	656	K>N		No	ClinGen gnomAD
CA7029960 rs748618364	656	K>R		No	ClinGen ExAC gnomAD
CA7029959 rs774985404	658	F>L		No	ClinGen ExAC gnomAD
rs769170568 CA7029958	659	A>T		No	ClinGen ExAC gnomAD
rs1446997887 CA388589376	660	K>N		No	ClinGen gnomAD
CA388589378 rs1282152492	660	K>R		No	ClinGen gnomAD
CA7029940 rs774589230	661	A>T		No	ClinGen ExAC gnomAD
rs763403107 CA7029938	664	I>T		No	ClinGen ExAC gnomAD
CA7029939 rs769137455	664	I>V		No	ClinGen ExAC TOPMed gnomAD
rs539259137 CA388589334	665	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs539259137 CA7029937	665	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs568665198 CA7029936	666	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA255298086 rs375738264	667	C>S		No	ClinGen ESP TOPMed gnomAD
rs746632565 CA7029935	668	I>V		No	ClinGen ExAC gnomAD
CA7029934 rs777635370	669	E>*		No	ClinGen ExAC gnomAD
CA388589280 rs1345709040	673	S>A		No	ClinGen gnomAD
CA7029932 rs747920318	676	E>V		No	ClinGen ExAC gnomAD
CA7029931 rs778602152	678	S>Y		No	ClinGen ExAC gnomAD
CA7029930 rs754893445	679	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA388589180 rs1481157245	680	P>H		No	ClinGen TOPMed
rs753768310 CA7029929	680	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7029926 rs750627318	681	L>F		No	ClinGen ExAC TOPMed gnomAD
CA388589166 rs1468887205	681	L>P		No	ClinGen gnomAD
CA7029927 rs750627318	681	L>V		No	ClinGen ExAC TOPMed gnomAD
CA388588969 rs1418438468	684	I>T		No	ClinGen TOPMed gnomAD
CA7029892 rs768481002	685	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7029893 rs773942149	685	Y>H		No	ClinGen ExAC gnomAD
CA388588924 rs1482182200	688	P>A		No	ClinGen TOPMed gnomAD
rs1413250768 CA388588916	688	P>L		No	ClinGen TOPMed
rs1482182200 CA388588926	688	P>S		No	ClinGen TOPMed gnomAD
rs775265224 CA7029890	689	G>A		No	ClinGen ExAC gnomAD
CA7029889 rs201629976	690	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388588883 rs1168845776	691	P>L		No	ClinGen gnomAD
rs745830582 CA7029888	691	P>S		No	ClinGen ExAC gnomAD
CA7029887 rs781229710	693	F>V		No	ClinGen ExAC TOPMed gnomAD
CA7029886 rs368709762	694	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388588831 rs1458066304	696	S>G		No	ClinGen TOPMed
rs577236913 CA7029885	697	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1313705404 CA388588811	697	A>V		No	ClinGen gnomAD
CA7029884 rs755201670	698	F>L		No	ClinGen ExAC gnomAD
rs1476230119 CA388588768	701	V>I		No	ClinGen gnomAD
rs11618209 CA255297182	703	H>P		No	ClinGen ExAC gnomAD
CA255297175 rs765729652	703	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA7029882 rs11618209	703	H>R		No	ClinGen ExAC gnomAD
rs1372468877 CA388588707	705	H>Y		No	ClinGen TOPMed
rs755518048 CA7029880	713	E>G		No	ClinGen ExAC gnomAD
CA255296850 rs62637600	714	I>T		No	ClinGen TOPMed gnomAD
rs776620056 CA7029869	714	I>V		No	ClinGen ExAC gnomAD
rs771034965 CA7029868	715	K>E		No	ClinGen ExAC gnomAD
CA388587993 rs1459822885	715	K>R		No	ClinGen gnomAD
rs777917584 CA7029866	720	T>I		No	ClinGen ExAC gnomAD
rs748427197 CA7029864	726	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA388587758 rs1462511732	729	L>F		No	ClinGen TOPMed
CA388587754 rs1447070698	730	L>F		No	ClinGen gnomAD
CA255296807 rs557998399	731	T>I		No	ClinGen gnomAD
rs1566851495 CA388587554	739	N>K		No	ClinGen Ensembl
CA7029862 rs368366341 COSM1368197 COSM1368199	745	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA255296797 rs368366341	745	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs763680458 CA7029857	750	V>I		No	ClinGen ExAC gnomAD
rs142647356 CA7029852	751	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142647356 CA7029851	751	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7029853 rs142647356	751	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7029850 rs191047852	754	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA388587209 rs1326550217	755	V>I		No	ClinGen gnomAD
rs570723840 CA255296356	757	Y>H		No	ClinGen 1000Genomes
rs1420255675 CA388586988	758	S>C		No	ClinGen gnomAD
CA388587003 rs200500566	758	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1386690114 CA388586982	759	W>R		No	ClinGen TOPMed
CA388586921 rs1289328721	761	P>S		No	ClinGen TOPMed gnomAD
CA255296319 rs1049315867	762	L>F		No	ClinGen TOPMed
rs370847473 CA7029815	766	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7029814 rs753578347	767	R>M		No	ClinGen ExAC gnomAD
CA7029812 rs755992735	768	V>A		No	ClinGen ExAC gnomAD
rs755992735 CA388586798	768	V>G		No	ClinGen ExAC gnomAD
rs1270273594 CA388586755	771	S>R		No	ClinGen gnomAD
rs377659767 CA7029810	772	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA255296297 rs207474303	773	Q>P		No	ClinGen TOPMed gnomAD
CA255296282 rs207474303	773	Q>R		No	ClinGen TOPMed gnomAD
CA7029808 rs548853031	776	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7029809 rs548853031	776	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7029805 rs775850376	778	S>L		No	ClinGen ExAC TOPMed gnomAD
rs376240334 CA7029802	779	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1396014736 CA388586584	781	L>F		No	ClinGen gnomAD
CA388586569 rs1165611272	782	P>S		No	ClinGen TOPMed
rs180720832 CA7029800	783	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7029798 rs566052313	784	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388586496 rs1468738353	787	G>D		No	ClinGen gnomAD
CA7029797 rs748876367	787	G>S		No	ClinGen ExAC gnomAD
rs1201918449 CA388586461	789	Q>R		No	ClinGen gnomAD
rs1460828647 CA388586440	790	E>G		No	ClinGen gnomAD
rs755722857 CA7029795	792	G>A		No	ClinGen ExAC gnomAD
CA388586184 rs1285587749	797	Y>D		No	ClinGen gnomAD
CA255295666 rs370704246	797	Y>F		No	ClinGen TOPMed gnomAD
rs1371622744 CA388586165	798	G>D		No	ClinGen TOPMed gnomAD
rs755742927 CA7029776	799	P>A		No	ClinGen ExAC gnomAD
rs745564334 CA7029775	799	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1161918934 CA388586083	803	W>*		No	ClinGen TOPMed
CA388586069 COSM1477357 rs1379273287 CA388586071 COSM432661	803	W>C	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD NCI-TCGA
rs751532147 CA388586085	803	W>G		No	ClinGen ExAC TOPMed gnomAD
CA7029772 rs751532147	803	W>R		No	ClinGen ExAC TOPMed gnomAD
CA7029771 rs777796764	804	V>I		No	ClinGen ExAC gnomAD
rs1408462746 CA388586037	805	D>E		No	ClinGen gnomAD
rs758273988 CA7029770	805	D>V		No	ClinGen ExAC gnomAD
CA7029769 rs752782367	807	G>D		No	ClinGen ExAC gnomAD
CA388586022 rs1183812083	807	G>S		No	ClinGen gnomAD
CA7029767 rs759785650	809	P>L		No	ClinGen ExAC gnomAD
rs1210953560 CA388585985	809	P>S		No	ClinGen gnomAD
rs1210953560 CA388585988	809	P>T		No	ClinGen gnomAD
CA7029764 rs778275450	814	S>F		No	ClinGen ExAC gnomAD
rs772588046 CA7029762	816	H>N		No	ClinGen ExAC gnomAD
CA7029761 rs369454715	816	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs369454715 CA7029760	816	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA388585770 rs1594946235	822	Y>C		No	ClinGen Ensembl
CA7029759 rs769225832	822	Y>H		No	ClinGen ExAC gnomAD
CA388585747 rs1389053688	823	T>S		No	ClinGen TOPMed gnomAD
rs761720738 CA7029745 CA255295138	826	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA255295132 rs953679177	828	L>V		No	ClinGen TOPMed
CA7029744 rs767820749	829	H>Q		No	ClinGen ExAC gnomAD
CA388585517 rs1255396328	829	H>R		No	ClinGen TOPMed
rs1163420019 CA388585521	829	H>Y		No	ClinGen gnomAD
CA388585506 rs1489220234	830	N>T		No	ClinGen TOPMed
rs762350176 CA7029743	833	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7029741 rs371252474	834	Y>C		No	ClinGen ESP ExAC gnomAD
rs1250409367 CA388585439	835	C>Y		No	ClinGen gnomAD
CA255295125 rs9513501	836	Q>H		No	ClinGen TOPMed
rs201221390 CA7029740	837	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1468274215 CA388585400	838	T>I		No	ClinGen gnomAD
rs770667748 CA7029738	839	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7029737 rs367727155	842	A>V		No	ClinGen ESP ExAC gnomAD
rs1251018350 CA388585357	843	Q>E		No	ClinGen gnomAD
rs142669427 CA7029736	843	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374463236 CA7029735	844	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA388585337 rs748114821	845	L>I		No	ClinGen ExAC TOPMed gnomAD
CA7029734 rs748114821	845	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1468092915 CA388585305	847	N>D		No	ClinGen gnomAD
rs537828362 CA7029733	847	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs868753929 CA255295066	848	E>K		No	ClinGen TOPMed
rs749324218 CA7029731	849	L>F		No	ClinGen ExAC gnomAD
rs780126262 CA7029730	853	L>F		No	ClinGen ExAC gnomAD
CA388585184 rs1393840861	854	K>E		No	ClinGen gnomAD
rs1174898224 CA388583974	857	H>R		No	ClinGen TOPMed gnomAD
COSM287529 rs1049933462 CA255294437	858	A>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA7029709 rs781212295	861	G>D		No	ClinGen ExAC gnomAD
CA7029710 rs562911621	861	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388583898 rs781212295	861	G>V		No	ClinGen ExAC gnomAD
CA7029707 rs751832820	862	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA7029705 rs551272325	863	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7029704 rs377041723	866	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA388583761 rs1428225578	869	P>H		No	ClinGen TOPMed
CA7029703 rs765986678	869	P>T		No	ClinGen ExAC gnomAD
CA388583733 rs1278773907	871	I>V		No	ClinGen gnomAD
CA388583655 rs1228575717	875	L>P		No	ClinGen gnomAD
rs1228575717 CA388583652	875	L>Q		No	ClinGen gnomAD
rs1291100182 CA388583628	876	F>L		No	ClinGen gnomAD
rs1413625871 CA388583623	877	R>*		No	ClinGen TOPMed gnomAD
CA388583618 rs1359295504	877	R>L		No	ClinGen gnomAD
CA388583621 rs1359295504	877	R>Q		No	ClinGen gnomAD
rs1336650530 CA388583616	878	V>I		No	ClinGen gnomAD
CA7029702 rs760162866	881	R>S		No	ClinGen ExAC gnomAD
CA388583534 rs1160399233	883	T>A		No	ClinGen gnomAD
CA388583528 rs1473802208	883	T>I		No	ClinGen gnomAD
rs372613527 CA7029701	884	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369795262 CA7029700	885	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1056246259 CA388583482	886	E>A		No	ClinGen TOPMed gnomAD
rs1056246259 CA255294373	886	E>V		No	ClinGen TOPMed gnomAD
CA7029699 rs761547282	887	V>I		No	ClinGen ExAC gnomAD
rs768476143 CA7029697	888	A>T		No	ClinGen ExAC TOPMed gnomAD
rs375543731 CA7029696	888	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs745870034 CA7029693	891	V>M		No	ClinGen ExAC gnomAD
rs1193084385 CA388583361	893	R>W		No	ClinGen TOPMed
rs767099076 CA7029681	896	I>T		No	ClinGen ExAC gnomAD
rs1369186671 CA388583154	898	V>M		No	ClinGen TOPMed gnomAD
rs1325680950 CA388583135	899	V>I		No	ClinGen TOPMed gnomAD
CA388583133 rs1325680950	899	V>L		No	ClinGen TOPMed gnomAD
rs1437695544 CA388583114	900	A>G		No	ClinGen gnomAD
rs1196447343 CA388583118	900	A>S		No	ClinGen TOPMed
CA7029680 rs769951250	901	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1168684853 CA388583097	901	Q>L		No	ClinGen TOPMed gnomAD
CA7029679 rs751279263	904	E>G		No	ClinGen ExAC gnomAD
CA388583020 rs1390881886	906	G>R		No	ClinGen gnomAD
CA7029676 rs536713337	909	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7029677 rs762676659	909	S>R		No	ClinGen ExAC TOPMed gnomAD
CA388582936 rs1278723615	910	H>Y		No	ClinGen TOPMed gnomAD
COSM1250580 COSM1250578 rs529937267 CA7029664	918	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA7029663 rs754407021	918	A>V	Variant assessed as Somatic; 4.65e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388582662 rs1205761476	919	Y>C		No	ClinGen TOPMed
rs1251589731 CA388582652	920	K>E		No	ClinGen TOPMed
CA388582629 rs751083122	921	A>G		No	ClinGen ExAC TOPMed gnomAD
rs751083122 CA7029660	921	A>V		No	ClinGen ExAC TOPMed gnomAD
CA255293459 rs867629114	924	Y>C		No	ClinGen Ensembl
CA388582584 rs1373377309	925	V>F		No	ClinGen gnomAD
rs371771027 CA7029659	926	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7029658 rs762625739	929	Y>H		No	ClinGen ExAC gnomAD
rs1047197933 CA255293445	929	Y>S		No	ClinGen TOPMed
rs752441289 CA7029657	930	K>N		No	ClinGen ExAC gnomAD
rs199775507 CA7029656	931	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1466491713 CA388582485	934	E>G		No	ClinGen gnomAD
CA7029653 rs770905705	934	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1244245114 CA388582389	940	M>I		No	ClinGen TOPMed
rs748425149 CA7029649	940	M>V		No	ClinGen ExAC gnomAD
rs373900973 CA7029647	942	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1566827382 CA388582264	949	D>Y		No	ClinGen Ensembl
rs948311873 CA255293417	953	S>G		No	ClinGen TOPMed
rs1259532100 CA388582220	953	S>N		No	ClinGen TOPMed gnomAD
CA255293415 rs916845820	957	L>V		No	ClinGen TOPMed
CA7029629 rs749598194	959	Y>C		No	ClinGen ExAC gnomAD
rs549560636 CA255292931	965	D>H		No	ClinGen TOPMed gnomAD
CA7029628 rs756116156	966	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770238787 CA7029627	967	L>M		No	ClinGen ExAC gnomAD
rs752536358 CA255292928	970	S>Y		No	ClinGen Ensembl
rs1301870031 CA388582029	971	M>I		No	ClinGen TOPMed
rs746423065 CA7029626	971	M>V		No	ClinGen ExAC gnomAD
CA388582016 CA388582015 rs1365615752	973	Q>H		No	ClinGen TOPMed gnomAD
CA388581977 rs1322329224	978	N>K		No	ClinGen TOPMed gnomAD
CA388581966 rs373463948	980	K>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA7029625 rs373463948	980	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA388604435 rs1203674223	984	L>R		No	ClinGen Ensembl
rs1039943471 CA388604434	985	R>*		No	ClinGen TOPMed
rs1039943471 CA255329705	985	R>G		No	ClinGen TOPMed
rs1323738459 CA388604431 COSM1368187 COSM1368185	985	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1460720215 CA388604418	987	Q>P		No	ClinGen gnomAD
rs1374984965 CA388604386	992	S>T		No	ClinGen TOPMed
CA7029613 rs751593603	993	Y>C		No	ClinGen ExAC TOPMed gnomAD
COSM356755 rs1368117364 CA388604380	993	Y>H	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA255329685 rs777312557	994	H>R		No	ClinGen Ensembl
rs1169648442 CA388604359	996	A>T		No	ClinGen TOPMed
CA7029611 rs763105955	1000	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA388604328 rs1421238540	1001	V>I		No	ClinGen TOPMed
rs376549575 CA7029610	1005	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7029609 rs770184071	1006	P>A		No	ClinGen ExAC TOPMed gnomAD
CA388604291 rs770184071	1006	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1471748525 CA388604251	1011	K>N		No	ClinGen TOPMed gnomAD
CA388604241 rs1393767221 COSM1587218 COSM949195	1013	R>*	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA7029607 rs777182354	1013	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7029605 rs747630396	1018	A>T		No	ClinGen ExAC gnomAD
rs1399034384 CA388604196	1020	K>E		No	ClinGen TOPMed
rs768309500 CA7029603	1020	K>N		No	ClinGen ExAC gnomAD
rs1198670566 CA388604194	1020	K>R		No	ClinGen gnomAD
CA7029602 rs369397122	1021	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388604183 rs1225814852	1022	A>T		No	ClinGen TOPMed
rs756028718 CA7029600	1022	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750254244 CA7029599	1023	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA388604167 rs1344987400	1024	H>R		No	ClinGen TOPMed
rs781207700 CA7029598	1028	V>D		No	ClinGen ExAC gnomAD
CA7029597 rs757290152	1029	F>L		No	ClinGen ExAC gnomAD
CA7029596 rs201047354	1030	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs201047354 CA388604130	1030	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1309782271 CA388604103	1032	R>K		No	ClinGen TOPMed
rs745617325 CA7029580	1032	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7029578 rs781156213	1034	F>V		No	ClinGen ExAC gnomAD
rs1247217702 CA388604051	1039	R>K		No	ClinGen TOPMed gnomAD
CA388604042 rs375122739	1040	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA7029577 rs375122739	1040	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA388604037 rs1376494376	1041	F>Y		No	ClinGen gnomAD
CA7029576 rs751492882	1044	K>E		No	ClinGen ExAC gnomAD
CA388604000 rs1566781289	1046	I>T		No	ClinGen Ensembl
rs994312470 CA255329282	1047	N>S		No	ClinGen TOPMed
CA7029575 COSM551945 COSM1140446 rs777905478	1049	Y>C	lung Variant assessed as Somatic; 4.642e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA388603975 rs77363135	1050	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7029574 rs77363135	1050	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752837498 CA388603957	1052	C>S		No	ClinGen ExAC gnomAD
CA7029573 rs752837498	1052	C>Y		No	ClinGen ExAC gnomAD
CA388603949 rs1487377861	1053	F>C		No	ClinGen TOPMed
rs1364865179 CA388603915	1058	P>L		No	ClinGen gnomAD
CA388603913 rs1321670176	1059	K>Q		No	ClinGen gnomAD
rs933264008 CA255329008	1061	L>F		No	ClinGen TOPMed gnomAD
CA388603856 rs1306241984	1065	K>R		No	ClinGen TOPMed gnomAD
rs370027438 CA7029555	1070	R>H		No	ClinGen ESP ExAC gnomAD
rs756373830 CA7029550	1072	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7029548 rs373344060	1074	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7029547 rs762403429	1077	H>R		No	ClinGen ExAC gnomAD
rs775117075 CA7029546	1080	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1379081875 CA388603751	1080	P>S		No	ClinGen TOPMed
rs1379081875 CA388603750	1080	P>T		No	ClinGen TOPMed
rs1275958936 CA388603721	1084	P>R		No	ClinGen gnomAD
CA388603724 rs1594804315	1084	P>S		No	ClinGen Ensembl
rs776484203 CA7029543	1085	M>V		No	ClinGen ExAC TOPMed gnomAD
CA388603679 rs1301044358	1090	G>D		No	ClinGen gnomAD
rs1224271111 CA388603675	1091	R>K		No	ClinGen TOPMed
rs746717567 CA7029541 CA388603672	1091	R>S		No	ClinGen ExAC TOPMed gnomAD
CA7029540 rs773092201	1093	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA388603645 rs1286769701	1095	Y>C		No	ClinGen gnomAD
rs1594776748 CA388603619	1097	D>A		No	ClinGen Ensembl
rs780202616 CA7029511	1098	L>P		No	ClinGen ExAC gnomAD
rs749324182 CA7029512	1098	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769883042 CA7029510	1099	Q>R		No	ClinGen ExAC gnomAD
CA7029509 rs746140498	1100	L>F		No	ClinGen ExAC gnomAD
rs1594776577 CA388603585	1102	Y>C		No	ClinGen Ensembl
CA255326208 rs907221531	1103	S>L		No	ClinGen TOPMed gnomAD
CA7029508 rs781405081	1107	E>D		No	ClinGen ExAC gnomAD
CA388603507 rs1306059891	1113	F>C		No	ClinGen TOPMed
CA7029507 rs757754292	1117	L>Q		No	ClinGen ExAC gnomAD
CA7029506 rs751986252	1120	R>K		No	ClinGen ExAC gnomAD
rs1465683259 CA388603454	1121	E>D		No	ClinGen gnomAD
CA255326143 rs56240072	1125	A>V		No	ClinGen Ensembl
CA7029504 rs759007656	1129	F>L		No	ClinGen ExAC gnomAD
CA388603399 rs765965731	1130	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7029502 rs765965731	1130	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7029503 rs377041158	1130	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA388603382 rs1594776106	1133	R>C		No	ClinGen Ensembl
CA7029501 rs373604227	1133	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7029499 rs569450007	1135	I>V		No	ClinGen 1000Genomes ExAC
rs1326820679 CA388603367	1136	A>T		No	ClinGen gnomAD
rs376712474 CA7029497	1137	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7029495 rs762924735	1138	S>C		No	ClinGen ExAC TOPMed gnomAD
CA7029496 rs762924735	1138	S>G		No	ClinGen ExAC TOPMed gnomAD
rs775400936 CA7029494	1138	S>I		No	ClinGen ExAC gnomAD
CA388603354 rs775400936	1138	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1282290340 CA388603349	1139	V>L		No	ClinGen gnomAD
rs373804787 CA7029492	1140	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs781418186 CA7029491	1141	K>R		No	ClinGen ExAC gnomAD
rs376494449 CA7029488	1145	I>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA388603306 rs1196966116 COSM3704749 COSM3704746	1146	K>T	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7029486 rs371519923	1148	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs779429060 CA7029485	1149	F>S		No	ClinGen ExAC TOPMed gnomAD
CA388603273 rs1482150019	1151	D>N		No	ClinGen gnomAD
rs1272317624 CA388603259	1152	R>S		No	ClinGen gnomAD
rs749902207 CA7029483	1155	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs767114082 CA388603233	1156	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1410574160 CA388603217	1157	S>N		No	ClinGen TOPMed
CA388603210 rs1455222702	1158	H>Y		No	ClinGen TOPMed
rs1326414286 CA388603193	1160	A>E		No	ClinGen gnomAD
CA388603182 rs1287133825	1162	I>V		No	ClinGen gnomAD
rs758145717 CA7029459	1164	T>P		No	ClinGen ExAC gnomAD
CA7029458 rs752448425	1166	Y>S		No	ClinGen ExAC gnomAD
CA388603129 rs1395752804	1170	F>L		No	ClinGen gnomAD
CA7029457 rs765171560	1171	G>C		No	ClinGen ExAC gnomAD
CA388603107 rs1455867560	1174	I>M		No	ClinGen TOPMed gnomAD
CA388603094 rs1411563166	1176	N>T		No	ClinGen gnomAD
CA388603090 rs1471236386	1177	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA388603081 rs1234517202	1178	Q>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7029454 rs766612798	1179	R>Q		No	ClinGen ExAC gnomAD
CA388603075 rs1185344656	1179	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1463244584 CA388603057	1182	V>M		No	ClinGen gnomAD
rs1352237676 CA388603036	1185	V>L		No	ClinGen gnomAD
CA388603022 rs1259333698	1187	P>S		No	ClinGen gnomAD
CA388603006 rs1566759528	1189	P>R		No	ClinGen Ensembl
rs1339085831 CA388603009	1189	P>T		No	ClinGen gnomAD
rs1483949779 CA388603000	1190	V>A		No	ClinGen TOPMed
rs55889102 CA7029447	1192	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM290459 rs780668988 CA7029446	1192	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1443955939 CA388602982	1193	G>A		No	ClinGen gnomAD
rs1161349349 CA388602986	1193	G>S		No	ClinGen TOPMed gnomAD
rs1443955939 CA388602981	1193	G>V		No	ClinGen gnomAD
rs1249759374 CA388602977	1194	M>T		No	ClinGen gnomAD
CA7029444 rs373915181	1194	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA388602958 rs1198056545	1195	T>S		No	ClinGen TOPMed gnomAD
rs866263116 CA255324172	1196	V>L		No	ClinGen Ensembl
rs746473769 CA7029427	1200	S>F		No	ClinGen ExAC TOPMed gnomAD
CA388602924 rs1294509986	1200	S>P		No	ClinGen TOPMed gnomAD
CA7029426 rs777178791	1201	L>P		No	ClinGen ExAC gnomAD
rs555896198 CA255324160	1202	A>S		No	ClinGen 1000Genomes
rs747802586 CA7029424	1203	L>V		No	ClinGen ExAC TOPMed gnomAD
CA388602903 rs1164084679	1204	P>R		No	ClinGen TOPMed
rs1461853995 CA388602907	1204	P>S		No	ClinGen gnomAD
rs1282948452 CA388602876	1208	P>L		No	ClinGen gnomAD
rs1169128883 CA388602861	1211	T>M		No	ClinGen TOPMed
CA7029422 rs537800892	1212	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388602856 rs1185450545	1212	P>S		No	ClinGen gnomAD
rs1353915091 CA388602851	1213	Q>*		No	ClinGen gnomAD
CA388602847 rs1170849016	1213	Q>H		No	ClinGen gnomAD
CA388602848 rs1454922607	1213	Q>P		No	ClinGen TOPMed
rs1411515394 CA388602818	1217	T>I		No	ClinGen gnomAD
rs1594753708 CA388602823	1217	T>P		No	ClinGen Ensembl
CA388602806 rs1480438348	1219	D>E		No	ClinGen gnomAD
CA388602783 rs1340384502	1223	H>Y		No	ClinGen TOPMed
CA388602774 rs1180585924	1224	K>E		No	ClinGen gnomAD
rs1480578973 CA388602770	1224	K>M		No	ClinGen TOPMed gnomAD
rs1480578973 CA388602771	1224	K>R		No	ClinGen TOPMed gnomAD
CA388602743 rs1262675340	1229	A>T		No	ClinGen gnomAD
rs764381692 CA7029414	1230	I>N		No	ClinGen ExAC TOPMed gnomAD
CA7029415 rs751796249	1230	I>V		No	ClinGen ExAC gnomAD
rs763245166 CA7029413	1231	S>F		No	ClinGen ExAC TOPMed gnomAD
rs374594982 CA388602726	1232	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7029412 rs374594982	1232	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7029411 rs527367250	1233	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7029395 COSM3814196 rs758650602 COSM3814193	1235	S>Y	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1326928394 CA388601936 COSM949189 COSM1587222	1236	P>S	oesophagus Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs753028152 CA7029394	1239	T>A		No	ClinGen ExAC TOPMed gnomAD
CA388601917 rs753028152	1239	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7029393 rs765637203	1244	I>V		No	ClinGen ExAC TOPMed gnomAD
CA255321302 rs777947652	1246	S>T		No	ClinGen Ensembl
CA255321283 rs879253613	1247	V>M		No	ClinGen TOPMed
CA388601849 rs1204781501	1249	N>S		No	ClinGen gnomAD
CA7029391 rs777068794	1252	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs773983499 CA255321258	1253	R>G		No	ClinGen Ensembl
CA388601806 rs1246424389	1256	L>F		No	ClinGen gnomAD
rs1384733430 CA388601795	1258	S>R		No	ClinGen gnomAD
CA388601777 rs1362280486	1260	D>G		No	ClinGen TOPMed gnomAD
CA388601780 rs1381321248	1260	D>H		No	ClinGen gnomAD
rs1566733292 CA388601773	1261	S>A		No	ClinGen Ensembl
rs377602294 CA7029387	1261	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs546211715 CA7029385	1265	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546211715 CA388601746	1265	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1426877104 CA388601716	1269	N>S		No	ClinGen gnomAD
CA388601711 rs1371736371	1270	S>G		No	ClinGen gnomAD
CA7029382 rs200337122	1270	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1264175443 CA388601701	1271	E>A		No	ClinGen gnomAD
CA7029381 rs757241837	1272	K>R		No	ClinGen ExAC TOPMed gnomAD
rs747020032 CA7029380	1274	N>K		No	ClinGen ExAC gnomAD
CA388601678 rs1404760476	1274	N>S		No	ClinGen TOPMed gnomAD
CA388601628 rs779047074	1279	H>L		No	ClinGen ExAC TOPMed gnomAD
CA7029357 rs779047074	1279	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1252637457 CA388601623	1280	Q>*		No	ClinGen gnomAD
rs896683506 CA255319369	1281	Q>R		No	ClinGen TOPMed gnomAD
rs1594691774 CA388601607	1282	S>N		No	ClinGen Ensembl
rs754125527 CA7029355	1286	G>E		No	ClinGen ExAC gnomAD
rs369442011 CA255319331	1289	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369442011 CA7029353	1289	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs762496849 CA7029350	1291	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1334909665 CA388601550	1291	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7029347 rs764944865	1300	I>F		No	ClinGen ExAC gnomAD
rs764944865 CA7029348	1300	I>V		No	ClinGen ExAC gnomAD
rs372027864 CA255319295	1305	M>I		No	ClinGen ESP TOPMed gnomAD
CA7029345 rs116877798	1305	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388601050 rs1438149496	1307	F>L		No	ClinGen gnomAD
rs201892495 CA7029344	1308	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7029343 rs760524409	1309	Y>C		No	ClinGen ExAC gnomAD
rs1566722868 CA388601016	1310	I>V		No	ClinGen Ensembl
rs1185073795 CA388601003	1311	L>I		No	ClinGen TOPMed
CA7029342 rs202095260	1312	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA7029341 rs772008986	1313	S>N		No	ClinGen ExAC gnomAD
CA388600933 rs1435646245	1315	S>C		No	ClinGen TOPMed gnomAD
rs1383989900 CA388600646	1317	D>G		No	ClinGen gnomAD
CA7029324 rs750219922	1318	A>G		No	ClinGen ExAC TOPMed gnomAD
CA388600475 rs1402593501	1327	S>T		No	ClinGen gnomAD
rs185134139 CA255317382	1329	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA7029321 rs185134139	1329	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA388600418 CA7029320 rs749335977	1332	M>L		No	ClinGen ExAC gnomAD
rs371114147 CA7029319	1332	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs764263277 CA255317355	1333	D>A		No	ClinGen Ensembl
CA7029318 rs769932681	1336	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7029316 rs781719347	1337	I>T		No	ClinGen ExAC gnomAD
rs746195122 CA7029317 COSM244125	1337	I>V	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1290133719 CA388600365	1338	S>F		No	ClinGen gnomAD
CA7029315 rs757815624	1338	S>T		No	ClinGen ExAC TOPMed gnomAD
rs750216355 CA255316545	1340	V>I		No	ClinGen TOPMed
rs774280619 CA7029303	1341	C>W		No	ClinGen ExAC gnomAD
CA388599823 rs1419246921	1344	Q>E		No	ClinGen TOPMed
rs147025665 CA7029302	1344	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1198130610 CA388599754	1346	Q>H		No	ClinGen gnomAD
rs1437628008 COSM1725604 CA388599712	1348	M>I	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA388599722 rs1202854798	1348	M>K		No	ClinGen gnomAD
CA7029300 rs775464754	1348	M>V		No	ClinGen ExAC gnomAD
rs1273899520 CA388599706	1349	G>R		No	ClinGen gnomAD
rs1188799113 CA388599667	1351	R>*		No	ClinGen gnomAD
CA7029298 rs746143159	1351	R>Q		No	ClinGen ExAC gnomAD
CA388599606 rs1368197931	1354	A>D		No	ClinGen gnomAD
CA388599615 rs1224276107	1354	A>T		No	ClinGen gnomAD
rs745342766 CA7029253	1358	M>V		No	ClinGen ExAC gnomAD
CA388599324 rs1425901117 CA388599322 COSM1725602	1359	M>I	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
CA388599334 rs1291254303	1359	M>V		No	ClinGen TOPMed
CA7029251 rs368105519	1363	L>S		No	ClinGen ESP ExAC gnomAD
CA7029250 rs777618453	1364	Q>*		No	ClinGen ExAC gnomAD
rs777618453 CA7029249	1364	Q>K		No	ClinGen ExAC gnomAD
CA7029247 rs752549375	1367	G>S		No	ClinGen ExAC gnomAD
rs987909162 CA255315027	1372	S>A		No	ClinGen TOPMed
rs371812647 CA7029245	1373	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs753934877 CA7029244	1374	T>A		No	ClinGen ExAC gnomAD
rs1473662809 CA388599083	1377	H>P		No	ClinGen TOPMed
CA388599072 rs1221220913	1378	S>G		No	ClinGen gnomAD
CA388597811 rs1310323192	1378	S>R		No	ClinGen TOPMed
rs1336238089 CA388597800	1379	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765785242 CA7029214	1380	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1390881358 CA388597771	1382	S>A		No	ClinGen TOPMed
CA7029213 rs187697334	1382	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs550887221 CA7029211	1383	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7029210 rs747848018	1384	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388597741 rs1472243054	1385	D>N		No	ClinGen gnomAD
CA388597703 rs1189005592	1388	H>P		No	ClinGen gnomAD
CA388597705 rs1356935065	1388	H>Y		No	ClinGen TOPMed
CA7029208 rs768635643	1390	S>A		No	ClinGen ExAC gnomAD
CA7029207 rs368409828	1392	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1218014892 CA388597639	1394	A>T		No	ClinGen gnomAD
CA388597629 rs1356527791	1395	N>D		No	ClinGen gnomAD
rs779809532 CA7029206	1395	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7029204 rs544564158	1396	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1286186890 CA388597590	1398	T>I		No	ClinGen gnomAD
rs1325965407 CA388597514	1406	D>N		No	ClinGen gnomAD
rs374628319 CA7029203	1407	T>A		No	ClinGen ESP ExAC gnomAD
rs757408692 CA7029202	1407	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7029198 rs753081162	1414	A>V		No	ClinGen ExAC TOPMed gnomAD
rs16955934 CA255307219 VAR_053067	1416	K>E		No	ClinGen UniProt Ensembl dbSNP
rs1248801200 CA388596350	1420	L>Q		No	ClinGen gnomAD
CA388596334 rs1457481485	1422	D>N		No	ClinGen gnomAD
rs755424384 COSM3955793 COSM3955796 CA7029178	1423	H>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1321515976 CA388596300	1425	H>R		No	ClinGen TOPMed gnomAD
rs754431933 CA7029177	1425	H>Y		No	ClinGen ExAC gnomAD
CA388596263 rs1276356140	1430	K>R		No	ClinGen gnomAD
rs989232142 CA255304551	1432	V>I		No	ClinGen TOPMed gnomAD
CA388596251 rs989232142	1432	V>L		No	ClinGen TOPMed gnomAD
rs759109781 CA7029176	1435	V>G		No	ClinGen ExAC TOPMed gnomAD
CA388596224 rs1444371424	1436	Y>H		No	ClinGen gnomAD
CA388596188 rs1375619407	1441	Q>*		No	ClinGen gnomAD
CA388596190 rs1375619407	1441	Q>K		No	ClinGen gnomAD
rs1331612655 CA388596186	1441	Q>R		No	ClinGen gnomAD
rs1566641234 CA388596167	1443	H>Q		No	ClinGen Ensembl
rs539347599 CA7029174	1447	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA7029175 rs539347599	1447	T>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1174808590 CA388596116	1450	K>R		No	ClinGen TOPMed gnomAD
CA388596104 rs1444661501	1451	N>D		No	ClinGen gnomAD
rs763810750 CA7029173	1452	V>A		No	ClinGen ExAC gnomAD
rs762747819 CA7029172	1454	T>A		No	ClinGen ExAC TOPMed
rs199979673 CA7029171	1454	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA388596049 rs1238951677	1455	A>D		No	ClinGen gnomAD
CA388596055 rs1439487238	1455	A>T		No	ClinGen gnomAD
rs759255200 CA7029169	1458	S>A		No	ClinGen ExAC TOPMed gnomAD
CA388596007 rs1255456253	1458	S>F		No	ClinGen gnomAD
CA255304505 rs189459359	1459	L>V		No	ClinGen Ensembl
rs776575921 CA7029168	1460	I>V		No	ClinGen ExAC gnomAD
CA388595883 rs1311593004	1464	P>S		No	ClinGen gnomAD
CA388595860 rs1228331223	1465	S>L		No	ClinGen gnomAD
rs1164571558 CA388595845	1467	F>L		No	ClinGen TOPMed gnomAD
CA388595828 rs1380753199	1468	Y>H		No	ClinGen gnomAD
CA7029151 rs535189862	1470	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs776321246 CA255304361	1472	A>E		No	ClinGen ExAC TOPMed gnomAD
rs776321246 CA7029150	1472	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1456725967 CA388595767	1474	M>I		No	ClinGen gnomAD
CA388595761 rs1368046150	1475	C>Y		No	ClinGen gnomAD
CA7029148 rs760655497	1476	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1417439526 CA388595747	1477	A>G		No	ClinGen TOPMed gnomAD
rs1417439526 CA388595746	1477	A>V		No	ClinGen TOPMed gnomAD
CA388595715 rs1218450642	1481	E>D		No	ClinGen TOPMed gnomAD
rs1263891006 CA388595724	1481	E>K		No	ClinGen TOPMed gnomAD
rs1487387543 CA388595702	1482	I>T		No	ClinGen gnomAD
CA7029145 rs748178910	1483	L>F		No	ClinGen ExAC gnomAD
CA388595611 rs1208583210	1488	S>Y		No	ClinGen TOPMed
CA7029144 COSM1204424 rs774572444	1493	I>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA388595537 rs1323183512	1494	R>G		No	ClinGen gnomAD
rs267603876 CA255304318	1494	R>K		No	ClinGen Ensembl
CA7029143 rs768794516	1495	T>M		No	ClinGen ExAC TOPMed gnomAD
CA388595502 rs1341611424	1496	E>G		No	ClinGen gnomAD
CA388595456 rs1385413274	1499	Q>H		No	ClinGen gnomAD
CA7029141 rs780618299	1499	Q>K		No	ClinGen ExAC
CA388595460 rs1280655632	1499	Q>R		No	ClinGen gnomAD
rs745921296 CA255304284	1501	L>F		No	ClinGen Ensembl
rs768949084 CA255304282	1502	Y>C		No	ClinGen TOPMed
CA7029139 rs746444285	1506	R>W		No	ClinGen ExAC gnomAD
rs1424174294 CA388595301	1510	D>G		No	ClinGen gnomAD
CA388595269 rs1195281538	1512	T>N		No	ClinGen TOPMed gnomAD
CA255304266 rs888566647	1514	K>R		No	ClinGen TOPMed gnomAD
rs1255770058 CA388595172	1519	R>Q		No	ClinGen gnomAD
rs747146715 CA7029138	1519	R>W		No	ClinGen ExAC TOPMed gnomAD
CA255304257 rs780186345	1520	T>A		No	ClinGen TOPMed gnomAD
rs368911408 CA7029119	1524	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA388595047 rs1424914228	1526	I>T		No	ClinGen TOPMed
CA255303212 rs866619526	1528	V>A		No	ClinGen Ensembl
CA388594997 rs1173121473	1531	L>M		No	ClinGen gnomAD
rs1436300364 CA388594994	1531	L>R		No	ClinGen gnomAD
CA388594983 rs1378223330	1532	I>T		No	ClinGen gnomAD
CA388594978 rs1157866771	1533	A>T		No	ClinGen gnomAD
rs1184707972 CA388594939	1535	V>A		No	ClinGen gnomAD
rs979373517 CA255303194	1535	V>I		No	ClinGen TOPMed gnomAD
rs1257436474 CA388594926	1536	V>A		No	ClinGen gnomAD
rs1213674614 CA388594920	1537	G>S		No	ClinGen gnomAD
CA7029115 rs754645712	1545	Q>L		No	ClinGen ExAC
rs779681513 CA7029113	1548	S>A		No	ClinGen ExAC gnomAD
rs572446179 CA7029111	1549	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7029110 rs572446179	1549	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1454648590 CA388594666	1553	C>S		No	ClinGen TOPMed gnomAD
CA7029108 rs761709196	1556	S>G		No	ClinGen ExAC gnomAD
CA255303116 rs769739130	1558	R>Q		No	ClinGen TOPMed gnomAD
rs751648526 CA7029107	1558	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1297344454 CA388594594	1559	L>I		No	ClinGen gnomAD
CA388594509 rs1566631150	1563	T>S		No	ClinGen Ensembl
rs780909038 CA7029090	1567	S>F		No	ClinGen ExAC TOPMed gnomAD
CA388594477 rs1196755249	1568	D>N		No	ClinGen gnomAD
CA388594438 rs1257291775	1571	D>N		No	ClinGen gnomAD
CA255302947 rs552831460	1573	T>I		No	ClinGen 1000Genomes
CA255302966 rs552831460	1573	T>S		No	ClinGen 1000Genomes
CA7029088 rs751386654	1576	I>T		No	ClinGen ExAC TOPMed gnomAD
CA7029089 rs757215179	1576	I>V		No	ClinGen ExAC TOPMed gnomAD
CA7029087 rs764110522	1577	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1594427575 CA388594333	1578	T>M		No	ClinGen Ensembl
rs1463559091 CA388594203	1584	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs377564231 CA255302919	1585	Q>R		No	ClinGen ESP
CA388594124 rs1390169013	1586	M>I		No	ClinGen TOPMed
rs1435125509 CA388594068	1589	H>N		No	ClinGen TOPMed
CA7029082 rs777037052	1590	E>D		No	ClinGen ExAC TOPMed gnomAD
rs540651708 CA7029080	1592	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776458318 CA7029079	1593	P>T		No	ClinGen ExAC TOPMed gnomAD
rs772655422 CA7029078	1595	M>I		No	ClinGen ExAC gnomAD
rs1594426799 CA388593913	1597	V>G		No	ClinGen Ensembl
rs1594426721 CA388593898	1598	D>G		No	ClinGen Ensembl
CA7029076 rs775031852	1601	Y>C		No	ClinGen ExAC gnomAD
rs769424891 CA7029075	1602	S>R		No	ClinGen ExAC gnomAD
CA7029074 rs745587537	1605	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1305411819 CA388593721	1607	Y>C		No	ClinGen gnomAD
CA7029073 rs780901811	1608	A>S		No	ClinGen ExAC gnomAD
rs780901811 CA388593711	1608	A>T		No	ClinGen ExAC gnomAD
CA388593670 rs1594426273	1610	T>M		No	ClinGen Ensembl
CA388593571 rs1443755037	1615	K>R		No	ClinGen gnomAD
rs758451977 CA7029069	1616	T>A		No	ClinGen ExAC gnomAD
rs1415353407 CA388593553	1616	T>M		No	ClinGen gnomAD
rs755243189 CA7029066	1619	D>N		No	ClinGen ExAC TOPMed gnomAD
rs753936740 CA7029065	1623	R>K		No	ClinGen ExAC gnomAD
rs1425565432 CA388593388	1626	V>A		No	ClinGen TOPMed
rs1594425585 CA388593355	1628	N>K		No	ClinGen Ensembl
rs1209303879 CA388593342	1630	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA388592191 rs1276864673	1636	M>V		No	ClinGen gnomAD
rs1566620895 CA388592166	1637	C>Y		No	ClinGen Ensembl
CA388592144 rs1399725509	1638	Y>C		No	ClinGen gnomAD
CA388592143 rs1399725509	1638	Y>F		No	ClinGen gnomAD
rs1291037083 COSM3943295 COSM3943298 CA388592135	1639	V>I	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7029044 rs376491903	1641	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs750742345 CA7029043	1643	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7029042 rs750725381	1645	V>M		No	ClinGen ExAC gnomAD
CA388592029 rs1477484313	1647	E>G		No	ClinGen gnomAD
CA388592003 rs1487295135	1651	R>Q		No	ClinGen TOPMed gnomAD
CA7029039 rs371892069	1651	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA388591993 rs1594396021	1652	K>R		No	ClinGen Ensembl
CA7029027 rs780229862	1654	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1342961998 CA388591864	1655	V>D		No	ClinGen gnomAD
rs1235824280 CA388591855	1656	Q>R		No	ClinGen gnomAD
rs1255531601 CA388591823	1658	E>*		No	ClinGen gnomAD
rs62637595 CA7029025	1659	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756288156 CA7029026	1659	P>S		No	ClinGen ExAC gnomAD
rs781406610 CA7029024	1660	P>S		No	ClinGen ExAC gnomAD
CA388591772 rs1236735028	1662	L>F		No	ClinGen gnomAD
CA255300458 rs114630298	1662	L>P		No	ClinGen gnomAD
CA388591750 rs868256635	1664	H>D		No	ClinGen gnomAD
CA255300443 rs868256635	1664	H>N		No	ClinGen gnomAD
rs75778787 CA7029022	1664	H>P		No	ClinGen ExAC
rs868256635 CA388591749	1664	H>Y		No	ClinGen gnomAD
rs1437544222 CA388591721	1666	H>N		No	ClinGen TOPMed
rs753276565 CA7029020	1667	S>R		No	ClinGen ExAC gnomAD
CA7029018 rs765977765	1668	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388591598 rs556673005	1674	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771873585 CA388591592	1674	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7029015 rs771873585	1674	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs556673005 CA7029016	1674	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1380130568 CA388591577	1676	G>S		No	ClinGen TOPMed
rs761605712 CA7028997	1677	V>M		No	ClinGen ExAC TOPMed gnomAD
CA388590951 rs1475406967	1679	R>T		No	ClinGen gnomAD
CA388590942 rs1352495973	1680	Q>E		No	ClinGen TOPMed
rs762671584 CA388590860	1684	A>S		No	ClinGen ExAC TOPMed gnomAD
rs762671584 CA7028994	1684	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1400926892 CA388590850	1684	A>V		No	ClinGen gnomAD
CA7028993 rs775449633	1686	R>G		No	ClinGen ExAC TOPMed gnomAD
rs535191163 CA7028992	1686	R>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs776744645 CA388590789	1687	V>F		No	ClinGen ExAC gnomAD
CA7028990 rs776744645	1687	V>I		No	ClinGen ExAC gnomAD
rs1053454250 CA255299423	1693	D>N		No	ClinGen TOPMed gnomAD
rs1256730959 CA388590615	1694	E>K		No	ClinGen gnomAD
CA7028985 rs370702552	1696	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1000603096 CA388590496	1699	M>L		No	ClinGen TOPMed
rs377666428 CA7028984	1699	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA255299397 rs1000603096	1699	M>V		No	ClinGen TOPMed
rs201127485 CA255299379	1702	V>M		No	ClinGen TOPMed gnomAD
CA388590377 rs1269365517	1704	M>I		No	ClinGen TOPMed gnomAD
CA388590392 rs1475796551	1704	M>V		No	ClinGen TOPMed
CA388590370 rs749929315	1705	Q>*		No	ClinGen ExAC gnomAD
rs749929315 CA7028982	1705	Q>E		No	ClinGen ExAC gnomAD
rs767192601 CA7028981	1706	D>G		No	ClinGen ExAC TOPMed gnomAD
CA7028980 rs756833164	1707	V>I		No	ClinGen ExAC gnomAD
CA7028950 rs761997544	1713	V>L		No	ClinGen ExAC gnomAD
rs1485887836 CA388585708	1716	E>D		No	ClinGen TOPMed gnomAD
CA388585698 rs1282260295	1717	L>I		No	ClinGen gnomAD
CA388585637 COSM1562746 rs1316038169	1719	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA388585607 rs1284330741	1721	C>S		No	ClinGen gnomAD
rs368023321 CA7028947	1722	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368023321 CA7028946	1722	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61745974 CA7028944	1723	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388585461 rs1236501347	1727	K>R		No	ClinGen TOPMed gnomAD
CA7028942 rs758067933	1728	A>D		No	ClinGen ExAC gnomAD
CA7028940 rs778546514	1730	R>C		No	ClinGen ExAC TOPMed gnomAD
CA388585414 rs1161311114	1730	R>H		No	ClinGen TOPMed gnomAD
CA255291214 rs531677948	1731	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs754715980 CA7028939	1731	Y>H		No	ClinGen ExAC gnomAD
CA255291202 rs529088630	1735	A>T		No	ClinGen 1000Genomes gnomAD
CA388585297 rs1217246201	1736	D>E		No	ClinGen gnomAD
rs767559134 CA388585313	1736	D>G		No	ClinGen ExAC gnomAD
rs61745987 CA7028935	1736	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs767559134 CA7028934	1736	D>V		No	ClinGen ExAC gnomAD
rs1332067260 CA388585223	1739	K>T		No	ClinGen gnomAD
CA388585204 rs1272031151	1740	L>F		No	ClinGen gnomAD
rs761956183 CA7028933	1740	L>R		No	ClinGen ExAC gnomAD
CA7028932 rs374501385	1741	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs970425130 CA255291148	1744	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs763378979 CA388585052	1748	R>G		No	ClinGen ExAC TOPMed gnomAD
rs559984159 COSM1152676 CA255291126	1748	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA7028930 rs763378979	1748	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7028905 rs773896305	1755	A>G		No	ClinGen ExAC gnomAD
rs747576212 CA7028906	1755	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388584789 rs773896305	1755	A>V		No	ClinGen ExAC gnomAD
rs1209183849 CA388584785	1756	H>N		No	ClinGen TOPMed gnomAD
CA7028904 rs768283865	1759	D>G		No	ClinGen ExAC gnomAD
CA7028903 rs546418845	1760	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA388584673 rs1478617782	1762	H>Q		No	ClinGen gnomAD
rs1334023997 CA388584668	1763	R>G		No	ClinGen gnomAD
CA7028901 rs755806803	1763	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs745707097 CA7028900	1764	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1374049208 CA388584614	1766	S>N		No	ClinGen TOPMed gnomAD
rs1594208775 CA388584531	1771	V>F		No	ClinGen Ensembl
rs1594208738 CA388584525	1771	V>G		No	ClinGen Ensembl
rs758558297 CA7028895	1772	M>I		No	ClinGen ExAC gnomAD
CA7028897 rs764339819	1772	M>L		No	ClinGen ExAC TOPMed gnomAD
CA7028896 rs764339819	1772	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7028893 rs765522851	1774	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7028890 rs371100286	1776	R>C		No	ClinGen ESP ExAC gnomAD
rs773845191 CA7028888	1776	R>H		No	ClinGen ExAC TOPMed gnomAD
rs773845191 CA388584440	1776	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7028889 rs773845191	1776	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7028887 rs768087817	1778	L>H		No	ClinGen ExAC TOPMed gnomAD
rs1156357839 CA388584380	1781	T>A		No	ClinGen TOPMed
CA7028885 rs775084852	1784	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7028884 rs769527541	1785	V>I		No	ClinGen ExAC gnomAD
rs1239861899 CA388584334	1787	F>L		No	ClinGen gnomAD
rs781100071 CA7028882	1789	G>R		No	ClinGen ExAC gnomAD
CA388584055 rs1594203211	1792	A>T		No	ClinGen Ensembl
rs1379872491 CA388584049	1792	A>V		No	ClinGen TOPMed
rs1306341170 CA388583878	1797	T>I		No	ClinGen TOPMed
CA388583870 rs1213645222	1798	D>H		No	ClinGen TOPMed
rs1232870806 CA388583765	1801	T>A		No	ClinGen TOPMed gnomAD
CA388583769 rs1232870806	1801	T>P		No	ClinGen TOPMed gnomAD
rs892164751 CA255289676	1802	D>E		No	ClinGen TOPMed gnomAD
CA388583696 rs1276171708	1803	V>M		No	ClinGen gnomAD
CA7028804 rs774158893	1807	F>L		No	ClinGen ExAC gnomAD
rs749349383 CA7028802	1811	D>G		No	ClinGen ExAC gnomAD
CA388590128 rs1473567399	1812	G>V		No	ClinGen gnomAD
CA388590109 rs1213571155	1813	K>R		No	ClinGen TOPMed
CA7028801 rs369791591	1815	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7028800 rs756378583	1818	K>E		No	ClinGen ExAC TOPMed gnomAD
CA255304533 rs763760950	1820	P>H		No	ClinGen gnomAD
CA7028799 rs746218574	1820	P>S		No	ClinGen ExAC TOPMed gnomAD
CA388589890 rs1445889642	1824	P>Q		No	ClinGen gnomAD
CA7028795 rs532217839	1826	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA255304516 rs532217839	1826	S>W		No	ClinGen 1000Genomes ExAC gnomAD
rs766104082 COSM1140440 CA7028792	1830	Q>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC
rs372996206 CA7028793	1830	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs760458395 CA7028791	1833	L>F		No	ClinGen ExAC gnomAD
CA388589702 rs1418252702	1834	K>R		No	ClinGen TOPMed
rs369562954 CA7028789	1835	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356272805 CA388589621	1837	S>L		No	ClinGen TOPMed
rs1297046709 CA388589564	1841	G>D		No	ClinGen TOPMed
rs749366985 CA7028785	1844	N>S		No	ClinGen ExAC TOPMed gnomAD
CA7028784 rs375165363	1846	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs3211042 CA7028783	1848	I>K		No	ClinGen ExAC gnomAD
CA388589468 rs1184385340	1848	I>V		No	ClinGen gnomAD
CA7028782 rs746023998	1850	D>N		No	ClinGen ExAC gnomAD
CA255304492 rs994533258	1852	G>S		No	ClinGen TOPMed gnomAD
CA388589401 rs1356469365	1853	K>E		No	ClinGen TOPMed
rs1467482085 CA388589394	1853	K>R		No	ClinGen TOPMed gnomAD
rs764079858 CA7028769	1855	N>I		No	ClinGen ExAC TOPMed gnomAD
rs762866339 CA7028768	1855	N>K		No	ClinGen ExAC TOPMed gnomAD
rs764079858 CA388589247	1855	N>T		No	ClinGen ExAC TOPMed gnomAD
CA388589236 rs1343082282	1856	P>S		No	ClinGen TOPMed gnomAD
rs1277076605 CA388589195	1859	L>P		No	ClinGen gnomAD
rs1050971466 CA255303280	1863	Y>C		No	ClinGen TOPMed gnomAD
rs1387272237 CA388589121	1866	I>V		No	ClinGen gnomAD
CA388589113 rs1329715225	1867	Q>*		No	ClinGen TOPMed
rs759637647 CA7028765	1869	T>I		No	ClinGen ExAC gnomAD
CA388589088 rs1428895660	1871	V>I		No	ClinGen TOPMed gnomAD
rs368317019 CA7028763	1872	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1170058115 CA388589071	1873	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1176163774 CA388589042	1877	E>G		No	ClinGen TOPMed gnomAD
CA388589046 rs1376557612	1877	E>K		No	ClinGen TOPMed gnomAD
rs1566533834 CA388589011	1881	Q>R		No	ClinGen Ensembl
rs772624782 CA7028760	1884	K>R		No	ClinGen ExAC gnomAD
rs779573148 CA388588893	1889	R>S		No	ClinGen ExAC gnomAD
CA388588889 rs1594161422	1890	S>P		No	ClinGen Ensembl
rs370665021 CA7028754	1892	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370665021 CA7028755	1892	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA388588861 rs1313833021	1892	N>S		No	ClinGen gnomAD
rs1304825971 CA388588850	1893	I>V		No	ClinGen gnomAD
CA255303188 rs768262480	1894	R>C		No	ClinGen gnomAD
rs369712024 CA7028752	1894	R>H		No	ClinGen ExAC TOPMed gnomAD
rs763731038 CA7028751	1895	R>C		No	ClinGen ExAC gnomAD
CA7028750 rs762822783	1895	R>H		No	ClinGen ExAC gnomAD
rs1365124101 CA388588804	1897	M>V		No	ClinGen TOPMed
CA388588773 rs1172610168	1898	F>L		No	ClinGen gnomAD
CA388588705 rs1159046563	1903	T>M	Variant assessed as Somatic; 4.675e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1414647174 CA388588693	1904	Q>P		No	ClinGen gnomAD
rs1566532939 CA388588677	1905	T>S		No	ClinGen Ensembl
CA7028747 rs370160423	1906	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1180708773 CA388588582	1911	G>E		No	ClinGen TOPMed gnomAD
CA7028745 CA388588584 rs771167904	1911	G>R		No	ClinGen ExAC TOPMed gnomAD
CA388588574 rs1594160179	1912	V>G		No	ClinGen Ensembl
rs200031473 CA7028744	1913	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7028743 rs773484966	1914	E>K		No	ClinGen ExAC gnomAD
rs1228325292 CA388588552	1915	Q>H		No	ClinGen TOPMed
CA7028742 rs772265136	1916	C>Y		No	ClinGen ExAC gnomAD
CA388588535 rs1339473777	1918	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748543595 CA7028741	1918	R>W		No	ClinGen ExAC gnomAD
rs373489385 CA7028740	1919	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs769326350 CA7028739	1919	R>H		No	ClinGen ExAC gnomAD
rs769326350 CA388588529	1919	R>L		No	ClinGen ExAC gnomAD
CA388588516 rs1319383117	1921	I>M		No	ClinGen TOPMed gnomAD
CA388588521 rs1382123768	1921	I>V		No	ClinGen gnomAD
CA388588509 rs1391484489	1923	T>A		No	ClinGen gnomAD
rs1163162878 CA388588507	1923	T>K		No	ClinGen gnomAD
rs1436378734 CA388587665	1925	I>V		No	ClinGen gnomAD
CA7028712 rs778742604	1926	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1332181465 CA388587630	1926	H>Y		No	ClinGen gnomAD
rs1211252667 CA388587596	1927	C>F		No	ClinGen Ensembl
rs754768904 CA7028711	1928	F>L		No	ClinGen ExAC gnomAD
rs1169446008 CA388587535	1930	Y>H		No	ClinGen gnomAD
CA7028709 rs375392160	1931	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1368172 CA255300885 rs774995831	1934	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1052569622 CA255300884	1934	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA388587365 rs1200681202	1937	V>L		No	ClinGen gnomAD
CA255300872 rs935066076	1938	M>I		No	ClinGen TOPMed
rs756104486 CA388587332	1938	M>R		No	ClinGen ExAC TOPMed gnomAD
rs756104486 CA7028708	1938	M>T		No	ClinGen ExAC TOPMed gnomAD
CA388587315 rs1250864658	1939	Y>N		No	ClinGen gnomAD
rs750554413 CA7028707	1940	Q>K		No	ClinGen ExAC gnomAD
CA7028706 rs576995379 CA388587270	1941	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1343938332 CA388587278	1941	H>Y		No	ClinGen gnomAD
rs1346279996 CA388587241	1943	T>A		No	ClinGen gnomAD
CA255300826 rs867874066	1946	N>H		No	ClinGen Ensembl
rs1594110142 CA388587178	1946	N>T		No	ClinGen Ensembl
CA7028703 rs764497198	1948	I>F		No	ClinGen ExAC TOPMed gnomAD
CA7028702 rs775822351	1948	I>M		No	ClinGen ExAC TOPMed gnomAD
rs764497198 CA388587156	1948	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1309090432 CA388587149	1949	E>K		No	ClinGen gnomAD
CA7028699 CA7028698 rs771712709	1953	D>E		No	ClinGen ExAC TOPMed gnomAD
CA388587011 rs1333535940	1955	M>L		No	ClinGen TOPMed gnomAD
CA388587024 rs1333535940	1955	M>V		No	ClinGen TOPMed gnomAD
rs1284866529 CA388586980	1956	S>N		No	ClinGen TOPMed
rs1415138694 CA388586957	1957	K>T		No	ClinGen gnomAD
CA7028696 rs747728414	1958	K>N		No	ClinGen ExAC gnomAD
rs543609412 COSM1195789 CA7028695	1960	A>V	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA255300764 rs973349293	1961	E>G		No	ClinGen TOPMed
rs201927938 CA7028691	1963	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377181227 CA7028692	1963	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7028690 rs750455689	1964	Q>R		No	ClinGen ExAC gnomAD
rs368761374 CA7028689	1968	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA255300698 rs983703324	1970	E>K		No	ClinGen TOPMed gnomAD
rs1594109133 CA388586699	1971	V>G		No	ClinGen Ensembl
rs1487380968 CA388586711	1971	V>M		No	ClinGen gnomAD
CA388586423 rs1360951990	1985	S>N		No	ClinGen gnomAD
rs1316392778 CA388586374	1987	Q>R		No	ClinGen gnomAD
rs757371392 CA388585292	1989	N>I		No	ClinGen ExAC gnomAD
CA7028669 rs757371392	1989	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7028667 rs778116627	1990	A>P		No	ClinGen ExAC gnomAD
rs1383784915 CA388585264	1991	G>D		No	ClinGen gnomAD
CA388585244 rs1365428064	1992	P>L		No	ClinGen gnomAD
CA7028662 rs754298254	1996	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs761283418 CA7028660	1997	R>Q		No	ClinGen ExAC gnomAD
rs773902207 CA7028659	1998	A>T		No	ClinGen ExAC gnomAD
CA388585149 rs1267296530	1998	A>V		No	ClinGen gnomAD
CA7028658 rs768181374	2001	D>G		No	ClinGen ExAC gnomAD
CA7028657 rs762734430	2003	T>K		No	ClinGen ExAC gnomAD
rs769582789 CA7028655	2004	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7028654 rs745680031	2007	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA388585001 rs1431418663	2012	K>E		No	ClinGen gnomAD
rs1472625476 CA388584999	2012	K>T		No	ClinGen TOPMed
rs1393974980 CA388584896	2022	Q>*		No	ClinGen gnomAD
CA388584895 rs1310990682	2022	Q>R		No	ClinGen TOPMed gnomAD
CA388584880 rs1400870171	2024	V>L		No	ClinGen gnomAD
CA388584876 rs1423589731	2025	E>K		No	ClinGen TOPMed
CA7028635 rs759380825	2028	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7028634 rs776623388	2030	A>T		No	ClinGen ExAC TOPMed gnomAD
CA388584814 rs770984670	2032	A>E		No	ClinGen ExAC TOPMed gnomAD
CA7028633 rs770984670	2032	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7028630 rs772145291	2036	R>C		No	ClinGen ExAC TOPMed gnomAD
rs748211735 CA7028629	2036	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1266195233 CA388584700	2042	Q>H		No	ClinGen gnomAD
rs1227043168 CA388584694	2043	L>F		No	ClinGen TOPMed
COSM1587228 rs1329575302 CA388584687	2044	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1262343024 CA388584644	2047	E>G		No	ClinGen gnomAD
CA7028625 rs377105888	2051	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7028624 rs756476652	2052	N>S		No	ClinGen ExAC gnomAD
rs750872161 CA7028623	2053	Y>C		No	ClinGen ExAC
rs767940175 CA7028622	2054	R>G		No	ClinGen ExAC gnomAD
rs1320451184 CA388584534	2056	M>L		No	ClinGen gnomAD
rs752197015 CA7028620	2057	A>T		No	ClinGen ExAC TOPMed gnomAD
rs764927576 COSM1152675 CA7028619	2057	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1250471499 CA388584497	2059	E>G		No	ClinGen TOPMed
rs1457540062 CA388584488	2060	L>F		No	ClinGen gnomAD
rs1450578027 CA388584476	2061	S>Y		No	ClinGen TOPMed
CA7028618 rs759325705	2062	E>Q		No	ClinGen ExAC gnomAD
CA388584427 rs1447698901	2065	H>Q		No	ClinGen gnomAD
rs776423335 CA7028617	2066	E>G		No	ClinGen ExAC gnomAD
CA388584424 rs1247543285	2066	E>Q		No	ClinGen TOPMed gnomAD
rs373831225 CA7028616	2067	Q>R		No	ClinGen ESP ExAC gnomAD
rs760519615 CA7028597	2069	G>R		No	ClinGen ExAC gnomAD

No associated diseases with Q9BZ29

2 regional properties for Q9BZ29

Type	Name	Position	InterPro Accession
domain	AVL9/DENND6 domain	61 - 197	IPR018307
domain	Tripartite DENN domain	60 - 525	IPR037516

Functions

		Description
EC Number
Subcellular Localization	Endomembrane system	Associated with membranes
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.
endomembrane system	A collection of membranous structures involved in transport within the cell. The main components of the endomembrane system are endoplasmic reticulum, Golgi bodies, vesicles, cell membrane and nuclear envelope. Members of the endomembrane system pass materials through each other or though the use of vesicles.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.

2 GO annotations of molecular function

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

2 GO annotations of biological process

Name	Definition
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
small GTPase mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8BZN6	Dock10	Dedicator of cytokinesis protein 10	Mus musculus (Mouse)	PR
Q8BIK4	Dock9	Dedicator of cytokinesis protein 9	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSQPPLLPAS	AETRKFTRAL	SKPGTAAELR	QSVSEVVRGS	VLLAKPKLIE	PLDYENVIVQ
70	80	90	100	110	120
KKTQILNDCL	REMLLFPYDD	FQTAILRRQG	RYICSTVPAK	AEEEAQSLFV	TECIKTYNSD
130	140	150	160	170	180
WHLVNYKYED	YSGEFRQLPN	KVVKLDKLPV	HVYEVDEEVD	KDEDAASLGS	QKGGITKHGW
190	200	210	220	230	240
LYKGNMNSAI	SVTMRSFKRR	FFHLIQLGDG	SYNLNFYKDE	KISKEPKGSI	FLDSCMGVVQ
250	260	270	280	290	300
NNKVRRFAFE	LKMQDKSSYL	LAADSEVEME	EWITILNKIL	QLNFEAAMQE	KRNGDSHEDD
310	320	330	340	350	360
EQSKLEGSGS	GLDSYLPELA	KSAREAEIKL	KSESRVKLFY	LDPDAQKLDF	SSAEPEVKSF
370	380	390	400	410	420
EEKFGKRILV	KCNDLSFNLQ	CCVAENEEGP	TTNVEPFFVT	LSLFDIKYNR	KISADFHVDL
430	440	450	460	470	480
NHFSVRQMLA	TTSPALMNGS	GQSPSVLKGI	LHEAAMQYPK	QGIFSVTCPH	PDIFLVARIE
490	500	510	520	530	540
KVLQGSITHC	AEPYMKSSDS	SKVAQKVLKN	AKQACQRLGQ	YRMPFAWAAR	TLFKDASGNL
550	560	570	580	590	600
DKNARFSAIY	RQDSNKLSND	DMLKLLADFR	KPEKMAKLPV	ILGNLDITID	NVSSDFPNYV
610	620	630	640	650	660
NSSYIPTKQF	ETCSKTPITF	EVEEFVPCIP	KHTQPYTIYT	NHLYVYPKYL	KYDSQKSFAK
670	680	690	700	710	720
ARNIAICIEF	KDSDEEDSQP	LKCIYGRPGG	PVFTRSAFAA	VLHHHQNPEF	YDEIKIELPT
730	740	750	760	770	780
QLHEKHHLLL	TFFHVSCDNS	SKGSTKKRDV	VETQVGYSWL	PLLKDGRVVT	SEQHIPVSAN
790	800	810	820	830	840
LPSGYLGYQE	LGMGRHYGPE	IKWVDGGKPL	LKISTHLVST	VYTQDQHLHN	FFQYCQKTES
850	860	870	880	890	900
GAQALGNELV	KYLKSLHAME	GHVMIAFLPT	ILNQLFRVLT	RATQEEVAVN	VTRVIIHVVA
910	920	930	940	950	960
QCHEEGLESH	LRSYVKYAYK	AEPYVASEYK	TVHEELTKSM	TTILKPSADF	LTSNKLLKYS
970	980	990	1000	1010	1020
WFFFDVLIKS	MAQHLIENSK	VKLLRNQRFP	ASYHHAVETV	VNMLMPHITQ	KFRDNPEASK
1030	1040	1050	1060	1070	1080
NANHSLAVFI	KRCFTFMDRG	FVFKQINNYI	SCFAPGDPKT	LFEYKFEFLR	VVCNHEHYIP
1090	1100	1110	1120	1130	1140
LNLPMPFGKG	RIQRYQDLQL	DYSLTDEFCR	NHFLVGLLLR	EVGTALQEFR	EVRLIAISVL
1150	1160	1170	1180	1190	1200
KNLLIKHSFD	DRYASRSHQA	RIATLYLPLF	GLLIENVQRI	NVRDVSPFPV	NAGMTVKDES
1210	1220	1230	1240	1250	1260
LALPAVNPLV	TPQKGSTLDN	SLHKDLLGAI	SGIASPYTTS	TPNINSVRNA	DSRGSLISTD
1270	1280	1290	1300	1310	1320
SGNSLPERNS	EKSNSLDKHQ	QSSTLGNSVV	RCDKLDQSEI	KSLLMCFLYI	LKSMSDDALF
1330	1340	1350	1360	1370	1380
TYWNKASTSE	LMDFFTISEV	CLHQFQYMGK	RYIARTGMMH	ARLQQLGSLD	NSLTFNHSYG
1390	1400	1410	1420	1430	1440
HSDADVLHQS	LLEANIATEV	CLTALDTLSL	FTLAFKNQLL	ADHGHNPLMK	KVFDVYLCFL
1450	1460	1470	1480	1490	1500
QKHQSETALK	NVFTALRSLI	YKFPSTFYEG	RADMCAALCY	EILKCCNSKL	SSIRTEASQL
1510	1520	1530	1540	1550	1560
LYFLMRNNFD	YTGKKSFVRT	HLQVIISVSQ	LIADVVGIGG	TRFQQSLSII	NNCANSDRLI
1570	1580	1590	1600	1610	1620
KHTSFSSDVK	DLTKRIRTVL	MATAQMKEHE	NDPEMLVDLQ	YSLAKSYAST	PELRKTWLDS
1630	1640	1650	1660	1670	1680
MARIHVKNGD	LSEAAMCYVH	VTALVAEYLT	RKEAVQWEPP	LLPHSHSACL	RRSRGGVFRQ
1690	1700	1710	1720	1730	1740
GCTAFRVITP	NIDEEASMME	DVGMQDVHFN	EDVLMELLEQ	CADGLWKAER	YELIADIYKL
1750	1760	1770	1780	1790	1800
IIPIYEKRRD	FERLAHLYDT	LHRAYSKVTE	VMHSGRRLLG	TYFRVAFFGQ	AAQYQFTDSE
1810	1820	1830	1840	1850	1860
TDVEGFFEDE	DGKEYIYKEP	KLTPLSEISQ	RLLKLYSDKF	GSENVKMIQD	SGKVNPKDLD
1870	1880	1890	1900	1910	1920
SKYAYIQVTH	VIPFFDEKEL	QERKTEFERS	HNIRRFMFEM	PFTQTGKRQG	GVEEQCKRRT
1930	1940	1950	1960	1970	1980
ILTAIHCFPY	VKKRIPVMYQ	HHTDLNPIEV	AIDEMSKKVA	ELRQLCSSAE	VDMIKLQLKL
1990	2000	2010	2020	2030	2040
QGSVSVQVNA	GPLAYARAFL	DDTNTKRYPD	NKVKLLKEVF	RQFVEACGQA	LAVNERLIKE
2050	2060
DQLEYQEEMK	ANYREMAKEL	SEIMHEQLG