AiPD: Autoinhibited Protein Database

Q9H7D0

Gene name	DOCK5
Protein name	Dedicator of cytokinesis protein 5
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:80005
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1617-1696 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1617-1696 (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

2 structures for Q9H7D0

Entry ID	Method	Resolution	Chain	Position	Source
7DPA	EM	380 A	A/D	1-1642	PDB
AF-Q9H7D0-F1	Predicted				AlphaFoldDB

1534 variants for Q9H7D0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA349530 rs864622027 RCV000205372	1709	A>S	Malignant tumor of prostate [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1284011144 CA370645729	3	R>H		No	ClinGen TOPMed gnomAD
CA370645730 rs1284011144	3	R>P		No	ClinGen TOPMed gnomAD
CA174499910 rs945472963	7	T>S		No	ClinGen TOPMed gnomAD
rs760129176 CA4681589	10	Q>H		No	ClinGen ExAC gnomAD
rs1341993816 CA370645794	12	Y>F		No	ClinGen gnomAD
rs768139098 CA4681590	13	G>A		No	ClinGen ExAC gnomAD
CA370631271 rs771121025	15	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4681604 rs771121025	15	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4681605 rs140538988	16	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs938252495 CA174113179	17	Y>C		No	ClinGen TOPMed gnomAD
CA370631310 rs1399657429	19	Y>H		No	ClinGen gnomAD
rs137877997 CA4681607	20	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137877997 CA4681608	20	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4681610 rs768913050	22	S>T		No	ClinGen ExAC gnomAD
rs1460576501 CA370631352	23	Q>E		No	ClinGen TOPMed
rs370221374 CA4681611	24	D>H		No	ClinGen ESP ExAC gnomAD
CA174113221 rs370221374	24	D>N		No	ClinGen ESP ExAC gnomAD
CA4681612 rs762577734	25	V>L		No	ClinGen ExAC gnomAD
rs370687065 CA174113232	26	E>A		No	ClinGen ESP TOPMed gnomAD
rs1325980709 CA370631412	29	L>V		No	ClinGen gnomAD
rs1164525309 CA370631438	31	I>F		No	ClinGen TOPMed
rs1164525309 CA370631436	31	I>L		No	ClinGen TOPMed
CA174113240 rs961740162	32	G>S		No	ClinGen TOPMed
rs1464260220 CA370631489	36	H>N		No	ClinGen gnomAD
rs1008094428 CA174113260	37	I>V		No	ClinGen gnomAD
rs1563322170 CA370631518	38	L>P		No	ClinGen Ensembl
rs752655929 CA4681617	40	M>I		No	ClinGen ExAC gnomAD
TCGA novel	42	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4681619 rs777436666	42	E>K		No	ClinGen ExAC TOPMed gnomAD
CA4681631 COSM1098420 rs770610949	44	W>*	Variant assessed as Somatic; 5.235e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs774024490 CA4681632	45	Y>F		No	ClinGen ExAC gnomAD
CA174089243 rs986730924	45	Y>H		No	ClinGen TOPMed gnomAD
CA370629454 rs1254502514	46	R>S		No	ClinGen TOPMed
CA370629467 rs1425391810	48	Y>C		No	ClinGen TOPMed gnomAD
rs912815855 CA174089248	49	T>S		No	ClinGen TOPMed
CA370629479 rs1307460407	50	L>P		No	ClinGen gnomAD
CA4681635 rs752187477	51	Q>R		No	ClinGen ExAC gnomAD
rs1221699091 CA370629490	52	N>Y		No	ClinGen TOPMed
rs1336230387 CA370629497	53	K>E		No	ClinGen TOPMed
rs866374107 CA174089251	54	S>Y		No	ClinGen Ensembl
rs1218944829 CA370629513	55	K>R		No	ClinGen gnomAD
CA4681654 rs774926459	57	G>A		No	ClinGen ExAC TOPMed gnomAD
CA370629735 COSM3395243 rs774926459	57	G>D	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA370629776 rs1450151218	63	Y>C		No	ClinGen TOPMed gnomAD
CA4681656 rs140378409	65	H>R		No	ClinGen ESP ExAC gnomAD
CA370629804 rs1470127165	67	K>T		No	ClinGen gnomAD
CA4681657 rs776665822	68	E>K		No	ClinGen ExAC gnomAD
rs761779338 CA4681658	70	T>A		No	ClinGen ExAC gnomAD
CA174090756 rs1029287053	71	V>L		No	ClinGen TOPMed gnomAD
CA370629827 rs1029287053	71	V>M		No	ClinGen TOPMed gnomAD
CA4681659 rs765139506	72	E>G		No	ClinGen ExAC gnomAD
COSM605153 CA370630145 rs368748190	80	V>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4681680 rs368748190	80	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA174091852 rs770652288	82	P>A		No	ClinGen TOPMed gnomAD
rs770652288 CA174091855	82	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	83	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4681681 COSM1098421 rs751838448	84	E>K	Variant assessed as Somatic; 0.0 impact. endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	86	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370630181 rs1357869669	86	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA370630193 rs1563335380	88	V>A		No	ClinGen Ensembl
rs990302436 CA174091863	88	V>L		No	ClinGen Ensembl
CA370630211 rs1457546983	91	L>F		No	ClinGen TOPMed gnomAD
rs531185028 CA4681682 COSM225887	92	T>M	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA4681684 rs752758204	93	S>F		No	ClinGen ExAC gnomAD
CA174091875 rs913508373	94	T>N		No	ClinGen Ensembl
rs759229539 CA174091880	96	R>Q		No	ClinGen gnomAD
CA370630250 rs1476011917	98	W>R		No	ClinGen TOPMed
rs749697914 CA4681688	99	A>G		No	ClinGen ExAC gnomAD
rs778219103 CA4681686	99	A>S		No	ClinGen ExAC gnomAD
rs749697914 CA4681687	99	A>V		No	ClinGen ExAC gnomAD
CA370630261 rs1253628789	100	V>I		No	ClinGen TOPMed
rs933276923 CA174091887	103	R>*		No	ClinGen TOPMed
COSM3432297 CA174091889 rs143551268	103	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs1334828690 CA370630298	105	L>P		No	ClinGen gnomAD
CA4681692 rs768183204	106	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA4681690 rs148024053	106	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA370630306 rs1398990154	107	V>M		No	ClinGen gnomAD
CA4681713 rs533562468	108	N>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4681714 rs370654947	108	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA370630639 rs533562468	108	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA174097971 rs1007295127	109	N>D		No	ClinGen Ensembl
CA4681715 rs774268079	110	K>E		No	ClinGen ExAC TOPMed gnomAD
rs545536184 CA4681716	110	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA370630659 rs1259793807	111	L>R		No	ClinGen TOPMed
rs1586300511 CA370630660	112	T>P		No	ClinGen Ensembl
CA370630668 rs1243311751	113	L>F		No	ClinGen gnomAD
CA4681717 rs772382334	113	L>P		No	ClinGen ExAC TOPMed gnomAD
rs775706885 CA4681718	114	F>L		No	ClinGen ExAC gnomAD
CA370630672 rs1485543308	114	F>V		No	ClinGen TOPMed
CA4681719 rs760823537	115	R>C		No	ClinGen ExAC TOPMed gnomAD
rs764175983 CA4681721	115	R>H		No	ClinGen ExAC TOPMed gnomAD
rs764175983 CA4681722	115	R>L		No	ClinGen ExAC TOPMed gnomAD
rs764175983 CA4681720	115	R>P		No	ClinGen ExAC TOPMed gnomAD
CA174097998 rs760823537	115	R>S		No	ClinGen ExAC TOPMed gnomAD
CA370630684 rs1177553555	116	Q>L		No	ClinGen gnomAD
COSM454341 CA370630714 rs1381001934	120	M>I	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1384902183 CA370630711	120	M>K		No	ClinGen gnomAD
rs1267907866 CA370630709	120	M>V		No	ClinGen TOPMed
rs141731570 CA4681723	121	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1325874331 CA370630751	126	E>K		No	ClinGen TOPMed gnomAD
CA4681728 rs755768763	128	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs549229014 CA4681727	128	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4681729 rs777482005	129	S>A		No	ClinGen ExAC gnomAD
CA370630773 rs1349918942	129	S>C		No	ClinGen gnomAD
CA370630779 rs1285817719	130	Q>R		No	ClinGen gnomAD
CA370630790 rs748741297	132	L>M		No	ClinGen ExAC TOPMed gnomAD
CA4681731 rs748741297	132	L>V		No	ClinGen ExAC TOPMed gnomAD
rs778690121 CA4681732	134	G>E		No	ClinGen ExAC gnomAD
CA370630806 rs1473165586	135	T>A		No	ClinGen TOPMed
CA4681733 rs369802050	135	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	138	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747293159 CA4681736	138	K>R		No	ClinGen ExAC TOPMed gnomAD
rs776734515 CA4681738	139	D>N		No	ClinGen ExAC gnomAD
rs767958632 CA174098067	143	E>K		No	ClinGen Ensembl
CA4681740 rs765312715	144	L>F		No	ClinGen ExAC gnomAD
CA4681741 rs773623426	145	K>R		No	ClinGen ExAC gnomAD
rs989214005 CA174098073	146	K>M		No	ClinGen TOPMed
CA370630881 rs1236544885	147	K>Q		No	ClinGen gnomAD
rs763451411 CA4681742	149	T>I		No	ClinGen ExAC TOPMed gnomAD
rs76375846 CA174098079	149	T>P		No	ClinGen Ensembl
rs763807367 CA4681746	152	I>M		No	ClinGen ExAC gnomAD
rs751959367 CA4681744	152	I>N		No	ClinGen ExAC TOPMed gnomAD
rs751959367 CA4681745	152	I>T		No	ClinGen ExAC TOPMed gnomAD
rs753434208 CA4681747	153	D>E		No	ClinGen ExAC gnomAD
CA370630928 rs1417709459	154	H>R		No	ClinGen gnomAD
CA370630943 rs1444535276	156	N>K		No	ClinGen gnomAD
rs200531725 CA4681749	156	N>S		No	ClinGen ExAC gnomAD
CA370630945 rs1432816032	157	R>G		No	ClinGen gnomAD
rs758374912 CA4681769	158	M>L		No	ClinGen ExAC gnomAD
CA370630978 rs1299708673	160	G>E		No	ClinGen gnomAD
rs779947182 CA370630976 CA4681770	160	G>R		No	ClinGen ExAC gnomAD
rs376663203 CA4681771	162	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs978283637 CA174100586	162	D>N		No	ClinGen Ensembl
rs754799894 CA370630995	163	L>V		No	ClinGen ExAC gnomAD
CA4681773 rs780973314	164	V>M		No	ClinGen ExAC gnomAD
rs748332549 CA4681774	165	V>A		No	ClinGen ExAC TOPMed gnomAD
CA174100605 rs748332549	165	V>G		No	ClinGen ExAC TOPMed gnomAD
rs770043731 CA4681775	166	R>*		No	ClinGen ExAC gnomAD
rs369984539 CA4681776	166	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs775017076 CA4681779	167	D>G		No	ClinGen ExAC gnomAD
rs374015497 CA4681778	167	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1245545809 CA370631024	168	D>E		No	ClinGen TOPMed gnomAD
CA370631021 rs1202096139	168	D>G		No	ClinGen TOPMed gnomAD
rs1563192079 CA370631030	169	N>S		No	ClinGen Ensembl
CA174100637 rs955583289	171	N>S		No	ClinGen TOPMed
rs772324434 CA4681781	173	L>I		No	ClinGen ExAC gnomAD
CA4681784 rs150049709	174	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs916850632 CA174100659	174	D>G		No	ClinGen gnomAD
CA370631068 rs1469127624	175	P>R		No	ClinGen gnomAD
rs1428772837 CA370631063	175	P>T		No	ClinGen gnomAD
CA370631075 CA370631074 rs34576741	176	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4681785 rs749987596	176	D>H		No	ClinGen ExAC gnomAD
rs765837278 CA4681787 COSM274861	177	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs751502358 CA4681788	180	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4681789 rs747353064	181	I>V		No	ClinGen ExAC TOPMed gnomAD
rs780906985 CA4681790	182	A>S		No	ClinGen ExAC gnomAD
rs780906985 CA4681791	182	A>T		No	ClinGen ExAC gnomAD
rs1278447693 CA370631114	183	L>F		No	ClinGen TOPMed gnomAD
CA4681792 rs756329033	185	K>E		No	ClinGen ExAC gnomAD
rs1222091858 CA370631128	185	K>R		No	ClinGen gnomAD
CA4681793 rs778032313	186	A>S		No	ClinGen ExAC TOPMed gnomAD
rs778032313 CA370631133	186	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4681794 rs749470233	187	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	187	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215702522 CA370631139	187	H>Y		No	ClinGen gnomAD
rs779064994 CA4681796	189	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1348789465 CA370631167	191	S>Y		No	ClinGen TOPMed
rs1279405815 CA370631184	193	R>S		No	ClinGen TOPMed
rs772632928 CA4681798	196	E>Q		No	ClinGen ExAC gnomAD
CA370631208 rs1427003430	197	K>E		No	ClinGen gnomAD
TCGA novel	197	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370631222 rs1347987240	199	Q>K		No	ClinGen TOPMed
TCGA novel	200	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	201	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4681800 rs761081395	201	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1017016346 CA174102343	204	I>N		No	ClinGen Ensembl
CA370631295 rs1390019947	204	I>V		No	ClinGen TOPMed
CA4681816 rs142391419	205	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs201076756 CA174102348	206	Q>R		No	ClinGen 1000Genomes
rs573408993 CA4681817	207	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs780635996 CA4681818	208	L>I		No	ClinGen ExAC gnomAD
CA4681820 COSM1098423 rs769071784	209	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs372663780 CA4681822	211	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4681821 rs776922979 COSM2149373	211	R>W	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA370631433 rs1248178518	213	Q>*		No	ClinGen gnomAD
rs151283004 CA4681823	213	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs144212581 CA4681826	215	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs144212581 CA4681825	215	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs760460873 CA4681828	217	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1300521132 CA370631519	218	T>I		No	ClinGen TOPMed gnomAD
CA370631513 rs1586306831	218	T>P		No	ClinGen Ensembl
rs1179168636 CA370631536	219	I>M		No	ClinGen gnomAD
rs1282363797 CA370631557	221	T>A		No	ClinGen TOPMed
rs199896366 CA4681829	222	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370631570 rs1414033791	222	Y>H		No	ClinGen TOPMed
rs199896366 CA4681830	222	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4681831 rs757596783	225	Y>C		No	ClinGen ExAC gnomAD
rs765536371 CA4681832	228	F>L		No	ClinGen ExAC gnomAD
rs1408976535 CA370631630	229	K>E		No	ClinGen gnomAD
rs140417347 CA4681833	229	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA370631643 CA370631642 rs1447905346	230	N>K		No	ClinGen gnomAD
rs1402893163 CA370631640	230	N>S		No	ClinGen gnomAD
rs1038831163 CA174102398	234	N>H		No	ClinGen TOPMed
rs559707551 CA174102401	235	I>N		No	ClinGen 1000Genomes
rs779932208 CA4681835	236	G>R		No	ClinGen ExAC gnomAD
rs1450327654 CA370631683	236	G>V		No	ClinGen gnomAD
rs1354138690 CA370631708	240	E>Q		No	ClinGen TOPMed
CA370631728 rs1563192996	242	F>L		No	ClinGen Ensembl
CA370631729 rs755428793	243	M>L		No	ClinGen ExAC TOPMed gnomAD
CA4681837 rs755428793	243	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	244	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1213023440 CA370631743	245	L>V		No	ClinGen gnomAD
rs376212628 CA4681839	247	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA370631769 rs1473199850	248	P>R		No	ClinGen TOPMed
rs138086965 CA370631770	249	D>H		No	ClinGen ESP TOPMed
CA174102480 rs138086965	249	D>N		No	ClinGen ESP TOPMed
CA370631781 rs17053341	250	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_033886 CA4681840 rs17053341	250	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	251	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745470148 CA4681842	253	F>S		No	ClinGen ExAC gnomAD
rs771611717 CA4681843	255	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	256	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA174107074 rs898150396	258	Y>C		No	ClinGen TOPMed gnomAD
CA370631852 rs776745443	259	L>I		No	ClinGen ExAC TOPMed gnomAD
rs776745443 CA4681866	259	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4681868 rs761779364	260	I>N		No	ClinGen ExAC TOPMed gnomAD
rs761779364 CA4681867	260	I>S		No	ClinGen ExAC TOPMed gnomAD
CA370631857 rs1404559086	260	I>V		No	ClinGen gnomAD
rs772869298 CA4681869	261	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4681870 rs372729869	261	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs372729869 CA4681871	261	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA370631870 rs1349803137	262	W>*		No	ClinGen gnomAD
CA370631880 rs1287502817	264	S>G		No	ClinGen gnomAD
CA4681873 rs759633500	264	S>T		No	ClinGen ExAC gnomAD
CA4681875 rs753205910 COSM1098424	266	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1563193587 CA370631912	268	P>R		No	ClinGen Ensembl
TCGA novel	272	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	275	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4681877 rs778254870	275	N>S		No	ClinGen ExAC TOPMed gnomAD
CA370631971 rs1285512521	276	N>S		No	ClinGen TOPMed
rs1160599262 CA370631975	277	L>F		No	ClinGen gnomAD
CA174107133 rs745900336	278	Q>*		No	ClinGen Ensembl
rs1258043387 CA370631984	278	Q>L		No	ClinGen Ensembl
TCGA novel	281	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370632009 rs1205237220	282	T>A		No	ClinGen TOPMed
CA4681895 rs775530697	285	S>N		No	ClinGen ExAC gnomAD
CA174108611 rs369903137	287	M>T		No	ClinGen Ensembl
rs761234387 CA4681896	287	M>V		No	ClinGen ExAC gnomAD
rs1444236590 CA370632064	288	D>N		No	ClinGen gnomAD
TCGA novel	291	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4681898 rs568941003	291	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM1456247 rs764473968 CA4681897	291	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1309933687 CA370632091	292	P>L		No	ClinGen gnomAD
rs757595575 COSM183914 CA4681899	293	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs765575956 CA4681900	293	R>H		No	ClinGen ExAC gnomAD
rs777228860 CA4681902	294	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs201214542 CA4681903	295	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA174108696 rs1010076805	296	L>R		No	ClinGen TOPMed
CA4681905 rs756128093	297	V>M		No	ClinGen ExAC gnomAD
rs749207030 CA4681907	298	C>G		No	ClinGen ExAC gnomAD
TCGA novel	298	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1424676953 CA370632139	300	I>M		No	ClinGen gnomAD
rs769107486 CA4681909	303	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1463900395 CA370632157	304	G>S		No	ClinGen gnomAD
rs1172494002 CA370632172	306	M>V		No	ClinGen TOPMed gnomAD
rs1401009990 CA370632184	307	E>G		No	ClinGen gnomAD
TCGA novel	309	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370632205 rs1397583592	310	E>G		No	ClinGen TOPMed
rs1376667738 CA370632212	311	G>D		No	ClinGen TOPMed
CA4681914 rs775584261	314	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1380725014 CA370632233	314	H>Y		No	ClinGen gnomAD
rs1458514964 CA370632250	316	C>*		No	ClinGen gnomAD
rs922465605 CA370632266	319	R>P		No	ClinGen TOPMed gnomAD
rs922465605 CA174108776	319	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1337896122 CA370632273	320	R>S		No	ClinGen gnomAD
rs36119599	322	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370632301 rs1220899185	325	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	328	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1280952060 CA370632349	329	I>M		No	ClinGen TOPMed
rs778742595 CA4681928 COSM1204388	331	D>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4681930 rs772327801	332	I>M		No	ClinGen ExAC TOPMed gnomAD
CA4681929 rs187822598	332	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780288805 CA370632369	333	I>L		No	ClinGen ExAC TOPMed gnomAD
CA4681931 rs780288805	333	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1489434380 CA370632376	334	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA174110469 rs993157892	336	K>N		No	ClinGen TOPMed gnomAD
rs979022262 CA174110470	337	V>M		No	ClinGen TOPMed gnomAD
CA4681933 rs768635101	339	D>N		No	ClinGen ExAC gnomAD
rs776762641 CA4681934	340	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	341	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762294051 CA4681935	341	E>V		No	ClinGen ExAC gnomAD
CA370632461 rs1185077130	346	I>F		No	ClinGen TOPMed
TCGA novel	347	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773762095 CA4681937	348	F>C		No	ClinGen ExAC TOPMed gnomAD
rs926170692 CA174110481	349	Q>*		No	ClinGen TOPMed
rs779769279 CA4681950	350	Q>H		No	ClinGen ExAC gnomAD
CA370632517 rs1586316052	351	I>M		No	ClinGen Ensembl
rs192333990 CA4681951	352	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs781171237 CA4681953	353	M>L		No	ClinGen ExAC gnomAD
rs1586316070 CA370632539	355	T>P		No	ClinGen Ensembl
rs769947361 CA4681955	356	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4681956 COSM1699863 rs376187554	358	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs572079060 CA4681957	358	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4681958 rs572079060	358	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4681964 rs764664281	364	M>I		No	ClinGen ExAC gnomAD
rs147353389 CA4681963	364	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs147353389 CA4681962	364	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4681965 rs750376645	365	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1036401869 CA174114909	366	P>S		No	ClinGen TOPMed gnomAD
rs751338953 CA4681968	367	L>F		No	ClinGen ExAC gnomAD
rs755204132 CA4681969	368	I>M		No	ClinGen ExAC gnomAD
CA4681971 rs748279570	370	S>*		No	ClinGen ExAC TOPMed gnomAD
CA370632644 rs756264814	371	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs777940001 CA4681973	372	V>M		No	ClinGen ExAC TOPMed gnomAD
CA370632654 rs150699795	373	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1098429 rs150699795 CA4681974	373	I>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA370632670 rs1333659201	375	E>D		No	ClinGen gnomAD
CA370632676 rs1357513727	376	N>S		No	ClinGen gnomAD
CA370632721 rs1199182230	383	L>F		No	ClinGen gnomAD
CA4681977 rs746217966	383	L>S		No	ClinGen ExAC gnomAD
TCGA novel	386	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4681979 rs149828746	387	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370632756 rs1440223057	388	A>V		No	ClinGen gnomAD
COSM1132773 CA370632757 rs1211550897	389	A>T	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs761399320 CA4681980	394	H>R		No	ClinGen ExAC gnomAD
rs764789148 CA4681981	396	G>E		No	ClinGen ExAC gnomAD
CA370632808 rs1586316208	396	G>R		No	ClinGen Ensembl
CA370632838 rs1411658575	398	G>V		No	ClinGen TOPMed
TCGA novel	401	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370632864 rs1586317405	402	S>F		No	ClinGen Ensembl
CA174116321 rs1037813575	406	L>F		No	ClinGen Ensembl
CA370632895 rs1163212859	407	P>A		No	ClinGen TOPMed
rs767401675 CA4682007	408	G>C		No	ClinGen ExAC gnomAD
rs752535812 CA4682008	409	D>E		No	ClinGen ExAC gnomAD
rs756444623 CA4682009	411	T>A		No	ClinGen ExAC gnomAD
TCGA novel	412	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4682011 rs546384495	414	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1205413945 CA370632947	415	K>R		No	ClinGen gnomAD
TCGA novel	416	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139621203 CA4682014	416	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA4682013 rs778790014	416	N>Y		No	ClinGen ExAC gnomAD
rs758828958 CA4682015	419	H>R		No	ClinGen ExAC gnomAD
rs1177144429 CA370632982	420	L>W		No	ClinGen TOPMed
rs780511258 CA4682016	421	V>F		No	ClinGen ExAC gnomAD
CA4682017 rs747356473	422	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768960968 CA4682018	423	R>K		No	ClinGen ExAC gnomAD
CA370633006 rs1381191706	424	S>L		No	ClinGen gnomAD
CA4682019 rs777435780	427	I>L		No	ClinGen ExAC TOPMed gnomAD
CA370633022 rs777435780	427	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4682020 rs748875418	428	A>S		No	ClinGen ExAC gnomAD
CA4682024 rs146574972	429	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4682023 rs146574972	429	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs564689438 CA4682022	429	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4682025 rs775470962	430	K>R		No	ClinGen ExAC TOPMed gnomAD
rs777707873 CA174116436	431	M>I		No	ClinGen Ensembl
rs760568746 CA4682026	431	M>V		No	ClinGen ExAC TOPMed gnomAD
rs201163570 CA4682027	432	G>D		No	ClinGen ExAC TOPMed gnomAD
CA4682030 rs550040411	434	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA4682029 rs550040411	434	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA4682031 rs765426394	436	I>T		No	ClinGen ExAC gnomAD
CA174121580 rs886144183	440	G>E		No	ClinGen TOPMed
CA4682054 rs755462791	441	D>E		No	ClinGen ExAC gnomAD
rs752077426 CA4682053	441	D>Y		No	ClinGen ExAC gnomAD
CA370633129 rs1476677577	443	R>G		No	ClinGen gnomAD
CA4682055 rs371773516	443	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA370633151 rs1465132175	446	I>L		No	ClinGen gnomAD
rs1465132175 CA370633149	446	I>V		No	ClinGen gnomAD
rs769104001 CA4682057	449	T>I		No	ClinGen ExAC gnomAD
rs376020224 CA4682058	450	L>V		No	ClinGen ESP ExAC gnomAD
CA370633195 rs779651246	453	G>R		No	ClinGen ExAC gnomAD
CA4682061 rs779651246	453	G>S		No	ClinGen ExAC gnomAD
rs1479035329 CA370633210	455	F>S		No	ClinGen TOPMed
rs1231221815 CA370633231	458	G>R		No	ClinGen gnomAD
CA4682063 rs747012460	461	K>E		No	ClinGen ExAC gnomAD
CA370633261 rs1486159137	462	T>A		No	ClinGen gnomAD
rs768684765 CA4682064	462	T>M	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4682066 rs747918921	463	P>S		No	ClinGen ExAC gnomAD
CA4682067 rs769595396	464	K>E		No	ClinGen ExAC gnomAD
CA174121727 rs920251075	466	V>M		No	ClinGen Ensembl
rs773314758 CA4682068	467	E>G		No	ClinGen ExAC gnomAD
rs61732769 CA4682069 RCV000951277	469	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs774406909 CA4682071 CA4682072	470	M>I		No	ClinGen ExAC gnomAD
rs983590356 CA174121775	470	M>L		No	ClinGen Ensembl
CA370633312 rs1434738203	470	M>T		No	ClinGen gnomAD
CA4682073 rs142262406	471	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4682076 rs764452762	474	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4682075 rs756466107	474	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1272597417 CA370633340	475	E>*		No	ClinGen TOPMed
TCGA novel	476	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435603559 CA370633360	477	G>V		No	ClinGen TOPMed
CA4682078 rs758108079	478	K>*		No	ClinGen ExAC
CA4682079 rs779753262	478	K>T		No	ClinGen ExAC gnomAD
CA4682080 rs746497406	479	L>F		No	ClinGen ExAC gnomAD
rs1239450791 CA370633370	479	L>P		No	ClinGen gnomAD
CA370633375 rs1284180813	480	L>S		No	ClinGen gnomAD
CA4682107 rs376754610	482	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4682108 rs545073260	483	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA370633405 rs1167506470	483	A>T		No	ClinGen gnomAD
CA370633410 rs772056828	484	I>L		No	ClinGen ExAC TOPMed gnomAD
CA174123573 rs1028375631	484	I>T		No	ClinGen TOPMed gnomAD
CA4682109 rs772056828	484	I>V		No	ClinGen ExAC TOPMed gnomAD
CA370633429 rs1293570748	487	G>S		No	ClinGen TOPMed
rs1042575803 CA174123576	488	A>T		No	ClinGen TOPMed gnomAD
rs369656973 CA4682110	489	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4682111 rs761151277	491	E>K		No	ClinGen ExAC gnomAD
rs776956100 CA4682113	495	E>G		No	ClinGen ExAC TOPMed gnomAD
CA4682112 rs769186384	495	E>Q		No	ClinGen ExAC gnomAD
rs762300714 CA4682114	497	K>R		No	ClinGen ExAC gnomAD
CA370633519 rs1217939032	501	Y>H		No	ClinGen gnomAD
rs1439063956 CA370633568	507	P>R		No	ClinGen gnomAD
rs1287493407 CA370633565	507	P>S		No	ClinGen TOPMed
rs151019643 CA4682116	508	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1482055948 CA370633582	509	W>L		No	ClinGen gnomAD
CA370633599 rs1563200728	511	E>V		No	ClinGen Ensembl
CA4682119 rs752223996	513	V>A		No	ClinGen ExAC gnomAD
TCGA novel	513	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4682118 rs767005534	513	V>L		No	ClinGen ExAC gnomAD
CA4682131 rs762355928 COSM183921	515	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1331726990 CA370633642	516	S>C		No	ClinGen TOPMed
CA370633648 rs1423157276	517	I>M		No	ClinGen gnomAD
CA174124477 rs947261990	517	I>T		No	ClinGen TOPMed gnomAD
CA370633658 rs1563201140	519	I>T		No	ClinGen Ensembl
CA4682132 rs375035686	519	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4682133 rs140632003	520	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA370633676 rs1399208074	522	V>I		No	ClinGen gnomAD
CA370633687 rs1418652674	523	T>I		No	ClinGen TOPMed
rs140865121 CA4682135	524	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140865121 CA4682134	524	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4682136 rs114179365	524	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140865121 CA370633688	524	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760259638 CA4682137	526	H>R		No	ClinGen ExAC gnomAD
rs763441869 CA370633706	527	I>L		No	ClinGen ExAC TOPMed gnomAD
rs1352503188 CA370633709	527	I>T		No	ClinGen TOPMed gnomAD
rs763441869 CA4682138	527	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1586327001 CA370633728	530	T>A		No	ClinGen Ensembl
CA4682139 rs753786206	530	T>S		No	ClinGen ExAC TOPMed gnomAD
CA4682140 rs569331172	532	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4682141 rs368897597	532	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1291161904 CA370633745	533	H>Y		No	ClinGen TOPMed
CA370633756 rs1230542771	534	R>S		No	ClinGen TOPMed
CA4682142 rs750186438	534	R>T		No	ClinGen ExAC gnomAD
rs147811873 CA4682143	537	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA370633817 rs1273425062	542	K>Q		No	ClinGen TOPMed
CA4682165 rs781464699	543	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756211429 CA370633836	544	E>D		No	ClinGen ExAC TOPMed gnomAD
rs778453756 CA370633838	545	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778453756 CA4682168	545	R>G		No	ClinGen ExAC gnomAD
CA4682169 rs141239463	545	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4682170 rs771337522	546	A>V		No	ClinGen ExAC gnomAD
rs774564884 CA4682171	547	F>L		No	ClinGen ExAC gnomAD
CA4682172 rs746743155	549	V>L		No	ClinGen ExAC gnomAD
rs753921441 CA370633867	550	A>D		No	ClinGen ExAC TOPMed gnomAD
CA4682174 rs753921441	550	A>G		No	ClinGen ExAC TOPMed gnomAD
CA370633864 rs1337662766	550	A>T		No	ClinGen gnomAD
CA4682173 rs753921441	550	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4682176 rs559112835	552	V>M		No	ClinGen ExAC gnomAD
rs773214776 CA4682177	555	M>V		No	ClinGen ExAC gnomAD
CA174126568 rs549415609	556	N>K		No	ClinGen Ensembl
rs1034969826 CA4682178	557	P>L		No	ClinGen TOPMed gnomAD
CA4682181 rs137989255	558	D>E		No	ClinGen ESP ExAC gnomAD
rs762787950 CA370633918	558	D>G		No	ClinGen ExAC TOPMed gnomAD
CA370633914 rs1415401503	558	D>N		No	ClinGen gnomAD
rs762787950 CA4682180	558	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1262556374 CA370633923	559	G>D		No	ClinGen TOPMed
rs1422782951 CA370633930	560	T>S		No	ClinGen gnomAD
CA4682183 rs536125215	561	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4682185 rs149466393	563	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA370633945 rs1310621822	563	Q>R		No	ClinGen gnomAD
COSM2157556 CA370633967 rs1563202070	566	R>K	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
CA370633975 rs1272353535	567	H>L		No	ClinGen TOPMed
rs777937928 CA370633976	567	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA370633974 rs1272353535	567	H>R		No	ClinGen TOPMed
rs1306250146 CA370633982	568	D>G		No	ClinGen gnomAD
rs1278167899 CA370633980	568	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA174126621 rs916537402	572	Y>C		No	ClinGen Ensembl
CA370634013 rs1229782176	573	K>T		No	ClinGen gnomAD
rs1279370795 CA370634041	575	D>E		No	ClinGen gnomAD
CA4682201 rs767351843	575	D>G		No	ClinGen ExAC gnomAD
rs1554485069 CA370634048	576	N>K		No	ClinGen Ensembl
rs752977402 CA4682202	576	N>S		No	ClinGen ExAC gnomAD
rs370180340 CA4682203	577	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs764299920 CA4682204	579	M>T		No	ClinGen ExAC gnomAD
rs1282784562	579	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4682205 rs753830361	580	E>A		No	ClinGen ExAC gnomAD
rs757829123 CA4682206	581	D>N		No	ClinGen ExAC gnomAD
CA370634087 rs1400493942	582	A>T		No	ClinGen TOPMed
CA4682208 rs750876867	583	K>R		No	ClinGen ExAC gnomAD
CA370634114 rs1563202565	585	Y>*		No	ClinGen Ensembl
rs780384750 CA4682210	585	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA370634111 rs780384750	585	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA4682211 rs747863937	587	T>N		No	ClinGen ExAC gnomAD
CA4682212 rs769408831	589	P>S		No	ClinGen ExAC gnomAD
rs374920299 CA4682214	591	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	592	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs916065181 CA174127625	593	M>I		No	ClinGen TOPMed gnomAD
rs993435290 CA174127618	593	M>V		No	ClinGen Ensembl
CA174127629 rs368432362	595	M>I		No	ClinGen ESP TOPMed gnomAD
CA4682216 rs375695909	596	E>Q		No	ClinGen ESP ExAC gnomAD
rs1563202590 CA370634191	597	E>D		No	ClinGen Ensembl
rs959457974 CA174127640	597	E>K		No	ClinGen TOPMed
rs1372084295 CA370634207	599	E>D		No	ClinGen TOPMed gnomAD
CA370634216 rs1239696785	601	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs775420043 CA4682219	602	A>T		No	ClinGen ExAC gnomAD
rs1261294809 CA370634231	603	S>C		No	ClinGen gnomAD
CA370634230 rs1261294809	603	S>F		No	ClinGen gnomAD
rs141549141 CA4682220	603	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA370634229 rs1261294809	603	S>Y		No	ClinGen gnomAD
rs940026910 CA174127686	604	K>E		No	ClinGen TOPMed gnomAD
TCGA novel	604	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA174127692 rs1037031932	606	L>V		No	ClinGen TOPMed gnomAD
CA174127719 rs922710787	608	T>I		No	ClinGen Ensembl
rs750988280 CA4682225	611	P>L		No	ClinGen ExAC TOPMed gnomAD
CA370634284 rs1417847277	612	S>N		No	ClinGen gnomAD
CA370634307 rs1395323949	615	S>C		No	ClinGen TOPMed gnomAD
CA370634308 rs1415795825	615	S>N		No	ClinGen TOPMed
CA370634305 rs1395323949	615	S>R		No	ClinGen TOPMed gnomAD
rs1309439402 CA370634331	618	D>G		No	ClinGen gnomAD
CA370634368 rs1563202645	623	A>S		No	ClinGen Ensembl
CA370634369 rs1426812661	623	A>V		No	ClinGen TOPMed
CA4682227 rs542835101	626	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA370634385 rs542835101	626	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1256301759 CA370634495	640	L>S		No	ClinGen gnomAD
rs185726789 CA4682251	642	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA174131375 rs571499886	642	N>T		No	ClinGen Ensembl
rs1258901545 CA370634518	643	W>C		No	ClinGen gnomAD
CA4682252 rs756926698	644	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs139728505 CA4682253 COSM1456251	644	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA370634529 rs1421757967	645	S>F		No	ClinGen gnomAD
rs749929260 CA4682254	646	N>D		No	ClinGen ExAC TOPMed gnomAD
CA370634533 rs1586336274	646	N>S		No	ClinGen Ensembl
CA174131388 rs970703258	650	I>V		No	ClinGen gnomAD
rs757932237 CA370634577	652	H>L		No	ClinGen ExAC TOPMed gnomAD
rs757932237 CA4682255	652	H>P		No	ClinGen ExAC TOPMed gnomAD
rs757932237 CA370634576	652	H>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	655	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4682256 rs764688968	655	K>Q		No	ClinGen ExAC gnomAD
CA370634614 rs1453170655	657	L>F		No	ClinGen gnomAD
CA4682258 rs768393924	658	M>I		No	ClinGen ExAC gnomAD
CA4682257 rs746885952	658	M>T		No	ClinGen ExAC
CA174131409 rs376807635	661	D>G		No	ClinGen ESP TOPMed
TCGA novel	662	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4682259 rs781038505	664	E>D		No	ClinGen ExAC gnomAD
rs1363476365 CA370634667	665	I>S		No	ClinGen gnomAD
rs1268284603 CA370634663	665	I>V		No	ClinGen gnomAD
rs749458527 CA4682285	668	F>V		No	ClinGen ExAC gnomAD
TCGA novel	669	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370634750 rs1370839550	675	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774406598 CA4682287	679	I>V		No	ClinGen ExAC gnomAD
rs1386068718 CA370634784	680	M>I		No	ClinGen TOPMed
CA4682288 rs759999061	680	M>V		No	ClinGen ExAC gnomAD
TCGA novel	682	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4682290 rs775810122	682	E>G		No	ClinGen ExAC gnomAD
CA4682289 rs540206888	682	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA370634802 rs1361374562	683	M>L		No	ClinGen TOPMed
rs1417886071 CA370634826	686	S>G		No	ClinGen TOPMed
COSM3951535 CA4682291 rs761132445	688	T>S	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4682294 rs762690530	689	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA4682293 rs750158433	689	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA4682295 rs766028471	692	L>F		No	ClinGen ExAC gnomAD
rs751059225 CA4682296	692	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1479298221 CA370634877	693	V>G		No	ClinGen TOPMed
rs559822179 CA370634892	695	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs994166763 CA370634895	696	A>S		No	ClinGen gnomAD
rs994166763 CA174131703 COSM3412940	696	A>T	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA370629874 rs1586337831	698	V>G		No	ClinGen Ensembl
CA370629871 rs1172029041	698	V>L		No	ClinGen TOPMed
rs1476145307 CA370629880	699	F>S		No	ClinGen gnomAD
CA370629886 rs1188086274	700	I>F		No	ClinGen gnomAD
rs1372013652 CA370629889	700	I>S		No	ClinGen gnomAD
TCGA novel	702	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459980969 CA370629903	702	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4682316 rs766884675	704	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1418403729 CA370629915	705	G>R		No	ClinGen TOPMed
CA4682318 rs756037209	707	I>F		No	ClinGen ExAC gnomAD
rs759162843 CA4682320	708	K>N		No	ClinGen ExAC gnomAD
rs550974413 CA4682319	708	K>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	712	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1445992992 CA370630006	717	E>D		No	ClinGen TOPMed
COSM3432298 rs779224941 CA4682322	718	T>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA174093867 rs1025425765	720	I>T		No	ClinGen Ensembl
rs951091123 CA370630057	724	F>L		No	ClinGen TOPMed
rs1458014244 CA370630069	726	A>G		No	ClinGen TOPMed
rs771599318 CA4682325	726	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA174093876 rs1019795379	728	L>M		No	ClinGen Ensembl
rs1277928155 CA370630079	728	L>S		No	ClinGen gnomAD
rs1234415238 CA370630085	729	A>S		No	ClinGen TOPMed
TCGA novel	729	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747560331 CA4682326	730	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs750715225 CA4682340	734	S>P		No	ClinGen ExAC gnomAD
rs758517754 CA4682341	735	K>E		No	ClinGen ExAC gnomAD
rs1563206177 CA370630359	737	L>V		No	ClinGen Ensembl
rs141305711 CA4682342	740	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370630382 rs141305711	740	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370630383 rs141305711	740	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1426795420 CA370630394	742	A>D		No	ClinGen gnomAD
CA174095514 rs1000344626	742	A>S		No	ClinGen TOPMed gnomAD
CA174095542 rs757209496	743	N>D		No	ClinGen Ensembl
CA4682343 rs751712751	745	D>H		No	ClinGen ExAC gnomAD
CA4682345 rs146100359	747	S>F		No	ClinGen ESP ExAC gnomAD
CA4682344 rs74885248	747	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1586339939 CA370630450	750	T>I		No	ClinGen Ensembl
rs891509630 CA174095575	753	L>P		No	ClinGen TOPMed
CA4682346 rs368916334	756	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1393857518 CA370630515	760	L>F		No	ClinGen gnomAD
CA370630547 rs1438749029	765	R>G		No	ClinGen TOPMed gnomAD
CA4682348 rs778000439	765	R>S		No	ClinGen ExAC gnomAD
rs201935919 CA4682349	771	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4682350 rs201426822	771	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs775072373 CA4682351	772	V>M		No	ClinGen ExAC
CA4682370 rs768212317 COSM1098433	777	F>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4682371 rs776113648	778	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1221195155 CA370768268	782	K>R		No	ClinGen TOPMed
CA4682375 rs377089070	783	D>E	Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA4682373 rs557366791	783	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA370768272 COSM3951536 rs1414641841	783	D>N	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1365572820 CA370768279	784	G>R		No	ClinGen TOPMed
rs766221613 CA4682376	785	D>N		No	ClinGen ExAC gnomAD
rs1431460605 CA370768296	786	E>G		No	ClinGen TOPMed gnomAD
CA370768291 rs1274398652	786	E>K		No	ClinGen TOPMed
CA4682377 rs575829181	788	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA4682378 rs748252518	792	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4682379 COSM183928 rs767750406	792	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs767750406 CA370768338	792	R>L		No	ClinGen ExAC gnomAD
CA370768346 rs752797751	793	Q>H		No	ClinGen ExAC gnomAD
CA370768348 rs1213442094	794	L>V		No	ClinGen gnomAD
CA4682382 rs764537302	796	L>I		No	ClinGen ExAC TOPMed gnomAD
CA4682383 rs754302838	797	A>V		No	ClinGen ExAC gnomAD
CA4682384 rs757574702	799	N>S		No	ClinGen ExAC TOPMed gnomAD
COSM1456253 CA174098895 rs976636481	800	M>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA4682385 rs779233897	800	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1238528618 CA370768397	801	L>P		No	ClinGen gnomAD
rs1238528618 CA370768398	801	L>R		No	ClinGen gnomAD
rs369743990 CA4682386	805	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs542832565 CA4682389	810	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4682390 rs769282639	812	I>M		No	ClinGen ExAC gnomAD
rs1336133395 CA370768469	812	I>V		No	ClinGen gnomAD
CA370768495 rs1443643914	814	G>R		No	ClinGen TOPMed
rs1474459017 CA370768499	814	G>V		No	ClinGen gnomAD
TCGA novel	815	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370768500 rs1247081119	815	A>T		No	ClinGen gnomAD
CA4682405 rs750808889	817	L>F		No	ClinGen ExAC gnomAD
rs780828532 CA4682407	822	S>R		No	ClinGen ExAC TOPMed gnomAD
rs978617450 CA174099498	823	I>V		No	ClinGen TOPMed gnomAD
rs747780873 CA4682408	824	I>L		No	ClinGen ExAC gnomAD
CA370768562 rs1272176673	824	I>T		No	ClinGen TOPMed
CA370768576 rs1346264468	826	D>A		No	ClinGen gnomAD
CA370768591 rs1323757306	828	K>R		No	ClinGen gnomAD
CA4682410 rs368472189	829	L>F		No	ClinGen ESP ExAC gnomAD
CA174099536 rs368472189	829	L>I		No	ClinGen ESP ExAC gnomAD
rs749219649 CA4682411	830	V>A		No	ClinGen ExAC gnomAD
rs774385512 CA4682413	831	F>L		No	ClinGen ExAC gnomAD
CA370768611 rs1232817710	832	D>N		No	ClinGen gnomAD
CA370768620 rs1263759775	833	P>A		No	ClinGen TOPMed gnomAD
CA370768621 rs1263759775	833	P>S		No	ClinGen TOPMed gnomAD
CA370768625 rs1358488274	834	V>I		No	ClinGen TOPMed gnomAD
rs371784481 CA4682414	835	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1440079219 CA370768639	836	L>V		No	ClinGen TOPMed
rs1187621630	837	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA174099953 rs763093938	838	V>A		No	ClinGen gnomAD
rs766749661 CA4682425	838	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1170030371 CA370768670	839	L>F		No	ClinGen gnomAD
CA370768672 rs1391192810	839	L>P		No	ClinGen gnomAD
CA174099985 rs756247287	840	F>L		No	ClinGen TOPMed
rs1301646507 CA370768688	841	C>*		No	ClinGen TOPMed gnomAD
rs1404950619 CA370768691	842	K>E		No	ClinGen gnomAD
rs1396746730 CA370768696	842	K>N		No	ClinGen gnomAD
rs1317731644 CA370768716	845	Q>R		No	ClinGen gnomAD
CA4682428 rs777193305	846	S>R		No	ClinGen ExAC gnomAD
CA4682429 rs753426419	847	I>V		No	ClinGen ExAC gnomAD
rs1342662311 CA370768745	849	D>E		No	ClinGen TOPMed gnomAD
CA4682432 rs745744405	851	Q>H		No	ClinGen ExAC gnomAD
CA4682431 rs779001741	851	Q>R		No	ClinGen ExAC gnomAD
CA370768789 rs779896727	854	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4682434 rs779896727	854	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs772051796 CA4682433	854	R>W		No	ClinGen ExAC TOPMed gnomAD
rs910096030 CA174099998	857	L>F		No	ClinGen TOPMed gnomAD
rs940198850 CA174100004	858	N>Y		No	ClinGen TOPMed gnomAD
CA4682435 rs747236832	860	M>T		No	ClinGen ExAC
CA4682436 rs768902055	861	T>A		No	ClinGen ExAC gnomAD
rs149776324 CA4682437	861	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1483849103 CA370768900	862	K>N		No	ClinGen gnomAD
CA370768911 rs1379666110	863	I>T		No	ClinGen TOPMed gnomAD
rs953801150 CA174100037	864	V>I		No	ClinGen TOPMed gnomAD
rs145695404 CA4682438	865	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1437331832 CA370768954	866	S>R		No	ClinGen gnomAD
rs769805730 CA4682439	866	S>T		No	ClinGen ExAC gnomAD
CA370768964 rs1321531229	867	T>N		No	ClinGen gnomAD
rs1409193368 CA370768971	868	L>F		No	ClinGen TOPMed gnomAD
rs773763635 CA4682441	868	L>H		No	ClinGen ExAC gnomAD
rs1409193368 CA370768969	868	L>V		No	ClinGen TOPMed gnomAD
CA174100069 rs553397560	869	F>V		No	ClinGen gnomAD
rs1298921901 CA370768991	870	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4682442 COSM274862 rs527517185	870	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA370768999 rs1233904265	871	Q>K		No	ClinGen gnomAD
CA370769105 rs1381807292	873	E>G		No	ClinGen TOPMed
rs1326505264 CA370769024	873	E>K		No	ClinGen gnomAD
CA174102370 COSM750015 rs934876948	876	E>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA370769131 rs1304165554	877	V>M		No	ClinGen TOPMed
rs148691535 CA4682474	880	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4682473 rs148691535	880	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	880	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147350685 CA4682479	883	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4682478 rs147350685	883	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756303215 CA4682477	883	T>S		No	ClinGen ExAC TOPMed
rs1294892479 CA370769182	886	L>F		No	ClinGen gnomAD
rs1294892479 CA370769181	886	L>V		No	ClinGen gnomAD
rs774940115 CA4682481	887	S>G		No	ClinGen ExAC gnomAD
CA4682483 rs772557421	888	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4682485 rs761607962	889	Q>R		No	ClinGen ExAC
CA370769216 rs1186017304	891	D>A		No	ClinGen TOPMed
CA174102422 rs916131777	891	D>Y		No	ClinGen TOPMed
rs373130381 CA4682486	893	N>I		No	ClinGen ESP ExAC gnomAD
rs373130381 CA174102423	893	N>S		No	ClinGen ESP ExAC gnomAD
CA370769258 rs1586348066	897	P>H		No	ClinGen Ensembl
rs772960086 CA4682488	899	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA370769269 rs1186955493	899	H>Y		No	ClinGen gnomAD
TCGA novel	900	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs141362225 CA4682489	900	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs751580729 CA4682490	901	A>E		No	ClinGen ExAC gnomAD
rs754837117 CA4682492	903	S>L		No	ClinGen ExAC gnomAD
rs754837117 CA4682491	903	S>W		No	ClinGen ExAC gnomAD
rs139507185 CA4682495	907	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139507185 CA4682496	907	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1246188065 CA370769339	909	I>M		No	ClinGen TOPMed
rs948922447 CA174102484	910	L>Q		No	ClinGen TOPMed
rs1318187961 CA370769358	913	L>M		No	ClinGen gnomAD
rs1366899201 CA370769361	913	L>P		No	ClinGen gnomAD
CA174102486 rs1016070048	914	D>H		No	ClinGen TOPMed gnomAD
CA4682497 rs757419390	916	K>N		No	ClinGen ExAC gnomAD
TCGA novel	919	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1247698195 CA370769831	919	G>D		No	ClinGen TOPMed
rs146979138 CA174107224	920	A>V		No	ClinGen ESP TOPMed
rs760480035 CA4682511	921	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4682514 rs757392639	922	A>V		No	ClinGen ExAC TOPMed gnomAD
CA370769880 rs1269602489	923	V>G		No	ClinGen gnomAD
rs1340691303 CA370769902	925	I>F		No	ClinGen TOPMed
CA370769919 rs1472226331	926	Q>R		No	ClinGen gnomAD
rs1046193697 CA174107275	927	L>F		No	ClinGen gnomAD
rs374384099 CA4682517	928	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs750493782 CA4682516	928	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4682518 rs780712316	929	M>V		No	ClinGen ExAC gnomAD
rs747504935 CA4682519	930	E>G		No	ClinGen ExAC gnomAD
rs139516143 CA4682520	931	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1407506156 CA370769984	931	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1341684255 CA370770023	935	R>G		No	ClinGen TOPMed
CA370770028 rs1310343500	935	R>M		No	ClinGen gnomAD
rs149707730 CA370770036	935	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4682524 rs554309120	938	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4682523 rs770509527	938	R>W		No	ClinGen ExAC gnomAD
TCGA novel	940	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs368530273 CA4682525	940	V>M		No	ClinGen ESP ExAC gnomAD
CA4682526 rs372744343	941	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1419022620 CA370770103	942	G>R		No	ClinGen TOPMed gnomAD
rs1419022620 CA370770107	942	G>W		No	ClinGen TOPMed gnomAD
CA4682528 rs760604602	945	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs552784556 CA4682527	945	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763920073 CA4682529	946	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs753555282 CA4682530	946	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA4682532 rs188912237	948	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188912237 CA4682531	948	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370770179 rs1586353287	948	P>S		No	ClinGen Ensembl
rs138358264 CA4682534	949	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4682533 rs750593122	949	H>Y		No	ClinGen ExAC gnomAD
rs780277079	950	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA370770203 rs1254656551	950	I>V		No	ClinGen TOPMed
CA4682557 rs767909611	953	F>S		No	ClinGen ExAC gnomAD
rs769524180 CA174114501	954	V>L		No	ClinGen gnomAD
rs769524180 CA370770535	954	V>M		No	ClinGen gnomAD
CA4682558 rs201180829	956	C>F		No	ClinGen ExAC gnomAD
rs1326752818 CA370770558	956	C>G		No	ClinGen gnomAD
CA370770570 rs545386846	956	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4682563 rs779634007	957	M>I		No	ClinGen ExAC
rs202178356 CA4682560 CA4682561	957	M>L		No	ClinGen 1000Genomes ExAC gnomAD
rs202178356 CA4682562	957	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs746555582 CA4682564	959	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4682565 rs768145925	959	A>V		No	ClinGen ExAC
rs776447225 CA4682566	960	L>P		No	ClinGen ExAC
CA370770631 rs1319681929	962	Q>K		No	ClinGen TOPMed
rs769516078 CA4682568	963	Q>K		No	ClinGen ExAC gnomAD
rs575405226 CA4682569	964	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370770667 rs575405226	964	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4682572 rs774646668	966	D>A		No	ClinGen ExAC gnomAD
rs766735672 CA4682571	966	D>N		No	ClinGen ExAC TOPMed gnomAD
rs759543509 CA4682573	968	H>P		No	ClinGen ExAC gnomAD
rs1158525320 CA370770742	969	Y>C		No	ClinGen gnomAD
rs1158525320 CA370770744	969	Y>F		No	ClinGen gnomAD
rs753215120 CA4682575	971	H>R		No	ClinGen ExAC gnomAD
CA4682574 rs767618139	971	H>Y		No	ClinGen ExAC gnomAD
rs764418595 CA4682577	972	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1586360093 CA370770793	973	I>L		No	ClinGen Ensembl
CA4682579 rs757579873	974	S>R		No	ClinGen ExAC TOPMed gnomAD
rs779687564 CA4682580	975	T>I		No	ClinGen ExAC
CA4682581 rs751154890	976	F>L		No	ClinGen ExAC gnomAD
CA370770827 rs1347320288	978	T>P		No	ClinGen TOPMed gnomAD
rs1349827213 CA370770853	980	Q>R		No	ClinGen TOPMed
rs780721684 CA4682583	982	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	983	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	984	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148380458 RCV000888284 CA4682600	986	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs74894413 CA4682601 RCV000886174 COSM249512	987	M>L	kidney [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	990	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757836738 CA4682602	990	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1489557315 CA370771253	991	I>V		No	ClinGen TOPMed
CA4682603 rs777862175	992	M>T		No	ClinGen ExAC gnomAD
rs1284246999 CA370771295	994	K>E		No	ClinGen TOPMed
rs778823586 CA4682606	995	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4682605 rs770913175	995	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA370771344 rs1352684319	997	I>M		No	ClinGen gnomAD
rs1220435700 CA370771340	997	I>T		No	ClinGen TOPMed
CA174118501 rs887079516	997	I>V		No	ClinGen TOPMed
rs375220151 CA4682607	999	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772365772 CA4682608	1001	V>I		No	ClinGen ExAC gnomAD
CA4682609 rs775538205	1006	W>*		No	ClinGen ExAC gnomAD
CA370771471 rs1316676185	1007	M>I		No	ClinGen gnomAD
CA4682610 rs760814630	1007	M>K		No	ClinGen ExAC gnomAD
CA370771500 rs1342934302	1009	M>I		No	ClinGen TOPMed gnomAD
rs148749876 CA4682611	1010	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs777182405 CA4682612	1011	M>T		No	ClinGen ExAC gnomAD
CA370771537 rs1273195043	1012	T>S		No	ClinGen gnomAD
rs1313159414 CA370771576	1015	R>G		No	ClinGen gnomAD
rs1054548445 CA370771645	1015	R>S		No	ClinGen TOPMed
rs141444477 CA4682634	1016	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA370771648 rs141444477	1016	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA370771660 rs1479206977	1018	L>I		No	ClinGen gnomAD
rs891839673 CA174119987	1019	R>C		No	ClinGen TOPMed gnomAD
rs148483229 CA4682635 COSM2149994	1019	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4682636 rs760370432	1020	A>G		No	ClinGen ExAC gnomAD
rs139275574 COSM750014 CA4682637	1021	I>V	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1022	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1347357797 CA370771683	1022	N>Y		No	ClinGen gnomAD
CA370771689 rs1431906019	1023	Q>*		No	ClinGen gnomAD
VAR_053065 rs2271111 CA4682638	1023	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs756791982 CA4682639	1026	E>*		No	ClinGen ExAC gnomAD
CA370771713 rs1563217200	1026	E>G		No	ClinGen Ensembl
rs1225827087 CA370771719	1027	V>F		No	ClinGen gnomAD
rs765228650 CA4682640	1030	R>S		No	ClinGen ExAC gnomAD
rs1328525456 CA370771747	1031	F>L		No	ClinGen gnomAD
CA370771744 rs1586365086	1031	F>Y		No	ClinGen Ensembl
rs758272198 CA4682642	1033	M>T		No	ClinGen ExAC gnomAD
CA4682641 rs750271485	1033	M>V		No	ClinGen ExAC TOPMed gnomAD
CA370771768 rs1586365103	1034	D>G		No	ClinGen Ensembl
rs1377918365 CA370771773	1035	Q>E		No	ClinGen TOPMed gnomAD
CA370771783 rs1448573773	1036	A>E		No	ClinGen gnomAD
rs1207053351 CA370771782	1036	A>S		No	ClinGen TOPMed
rs1216228943 CA370771789	1037	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs750099152 CA174120057	1038	F>L		No	ClinGen gnomAD
rs1245850430 CA370771801	1039	E>K		No	ClinGen gnomAD
rs781404560 CA4682663	1044	N>S		No	ClinGen ExAC TOPMed gnomAD
rs959775425 CA174125964	1045	N>S		No	ClinGen TOPMed
rs959775425 CA370772175	1045	N>T		No	ClinGen TOPMed
CA4682666 rs573629434	1047	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749846660 CA4682667	1048	H>R		No	ClinGen ExAC gnomAD
rs993030400 CA174126005	1050	A>T		No	ClinGen TOPMed gnomAD
CA174126034 rs376037392	1051	V>A		No	ClinGen ESP
CA174126036 rs185390515	1052	A>T		No	ClinGen 1000Genomes
CA370772353 rs1395175714	1058	S>F		No	ClinGen TOPMed
TCGA novel	1060	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1060	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776485826 CA4682672	1060	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs769388650 CA4682674	1063	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4682675 rs201374034 RCV000892098	1063	T>I		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1459890016 CA370772424	1064	F>C		No	ClinGen TOPMed
CA370772437 rs1271833330	1065	S>L		No	ClinGen gnomAD
CA4682678 rs190638874	1069	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4682679 rs190638874	1069	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4682680 rs369864998 COSM1098436	1069	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4682681 rs373021303	1070	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1071	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1098437 CA370772515 rs1462384330	1071	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA370772520 rs1586366985	1072	I>T		No	ClinGen Ensembl
CA370772517 rs1183866518	1072	I>V		No	ClinGen TOPMed
rs756265768 CA4682682	1073	V>I		No	ClinGen ExAC gnomAD
rs1301186649 CA370772574	1078	D>G		No	ClinGen gnomAD
CA4682706 rs751007694	1079	M>V		No	ClinGen ExAC gnomAD
CA4682707 rs758952677	1081	K>R		No	ClinGen ExAC gnomAD
CA370772626 rs1305935963	1082	E>D		No	ClinGen TOPMed gnomAD
CA4682709 rs377590566 COSM1098438	1084	G>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA370772657 rs1261702748	1085	F>C		No	ClinGen TOPMed gnomAD
TCGA novel	1086	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370772680 rs1220962590	1087	I>N		No	ClinGen gnomAD
CA4682710 rs755311055	1087	I>V		No	ClinGen ExAC gnomAD
rs748965106 CA4682712	1088	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4682711 rs190951623	1088	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA4682713 rs770463893	1089	D>N		No	ClinGen ExAC TOPMed gnomAD
CA370772733 rs1398579638	1091	W>*		No	ClinGen TOPMed
CA370772727 rs1370436413	1091	W>R		No	ClinGen gnomAD
CA4682714 rs773824824	1092	Y>C		No	ClinGen ExAC gnomAD
rs180942090 CA174127495	1093	N>K		No	ClinGen 1000Genomes TOPMed gnomAD
rs139729836 CA4682730	1096	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA370772862 rs1181530143	1097	H>Q		No	ClinGen TOPMed gnomAD
rs577043676 CA174127761	1097	H>R		No	ClinGen gnomAD
CA4682731 rs756922049	1098	K>R		No	ClinGen ExAC gnomAD
rs778495216 CA4682732	1099	I>M		No	ClinGen ExAC TOPMed gnomAD
CA4682733 rs745389646	1101	F>V		No	ClinGen ExAC gnomAD
CA4682735 rs779917876	1103	P>L		No	ClinGen ExAC gnomAD
rs779917876 CA370772920	1103	P>R		No	ClinGen ExAC gnomAD
rs545837294 CA4682734	1103	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372075648 CA4682737	1104	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1404904749 CA370772923	1104	S>P		No	ClinGen gnomAD
CA4682738 rs776464776	1105	M>I		No	ClinGen ExAC gnomAD
rs1586368324 CA370772928	1105	M>V		No	ClinGen Ensembl
rs770173191 CA4682740	1107	G>D		No	ClinGen ExAC gnomAD
CA4682739 rs761652753	1107	G>S		No	ClinGen ExAC gnomAD
CA4682742 rs773508394	1112	V>I		No	ClinGen ExAC gnomAD
CA4682743 rs763182905	1115	T>I		No	ClinGen ExAC gnomAD
CA4682745 rs752046056	1119	E>A		No	ClinGen ExAC TOPMed gnomAD
rs376026983 CA4682744	1119	E>Q		No	ClinGen ESP ExAC TOPMed
rs1001312185 CA174127883	1120	L>F		No	ClinGen gnomAD
rs753133870 CA4682748	1121	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4682747 rs767858537	1121	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4682749 rs756401295	1123	A>V		No	ClinGen ExAC TOPMed gnomAD
CA174127929 rs368072378	1124	T>K		No	ClinGen ESP TOPMed
rs1417289188 CA370773130	1125	I>V		No	ClinGen gnomAD
rs1427925536 CA370773222	1131	M>I		No	ClinGen gnomAD
CA370773243 rs1467932460	1133	Q>E		No	ClinGen gnomAD
rs1478400257 CA370773289	1136	F>S		No	ClinGen TOPMed
CA4682751 rs750065844	1137	N>D		No	ClinGen ExAC gnomAD
rs757974412 CA4682752	1137	N>S		No	ClinGen ExAC TOPMed gnomAD
rs746969156 CA4682754	1139	S>C		No	ClinGen ExAC TOPMed gnomAD
rs768662919 CA4682755	1139	S>N		No	ClinGen ExAC gnomAD
rs1269209246 CA370773359	1141	N>I		No	ClinGen TOPMed
rs867231527 CA174127974	1142	G>D		No	ClinGen Ensembl
CA4682757 rs747968927	1145	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA370773405 rs1318410826	1145	H>Y		No	ClinGen TOPMed
CA4682758 rs769697049	1146	M>T		No	ClinGen ExAC gnomAD
rs1225627252 CA370773421	1146	M>V		No	ClinGen gnomAD
CA4682778 rs771212936	1147	F>C		No	ClinGen ExAC gnomAD
rs1586369240 CA370773521	1148	E>V		No	ClinGen Ensembl
CA4682780 rs745971968	1153	T>S		No	ClinGen ExAC gnomAD
rs1364255413 CA370773567	1155	L>V		No	ClinGen gnomAD
rs1427041640 CA370773580	1157	Q>E		No	ClinGen TOPMed gnomAD
CA370773599 rs1586369266	1159	V>A		No	ClinGen Ensembl
CA370773604 rs1190353655	1160	E>A		No	ClinGen TOPMed
rs761144067 CA4682783	1160	E>D		No	ClinGen ExAC TOPMed gnomAD
CA370773612 rs1281465243	1161	G>A		No	ClinGen gnomAD
CA370773608 rs1440338772	1161	G>R		No	ClinGen gnomAD
CA4682784 rs764496714	1162	G>S		No	ClinGen ExAC gnomAD
rs777002703 CA4682785	1163	R>K		No	ClinGen ExAC gnomAD
rs1357214216 CA370773629	1164	G>A		No	ClinGen gnomAD
CA4682787 rs375960766	1166	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs751155892 CA4682788	1169	K>N		No	ClinGen ExAC TOPMed gnomAD
CA370773691 rs1271519876	1171	L>I		No	ClinGen TOPMed
rs767100714 CA4682790	1173	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1174	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4682792 rs752726247	1175	L>R		No	ClinGen ExAC gnomAD
rs778542768 CA4682815	1177	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4682817 rs758571018	1179	H>R		No	ClinGen ExAC gnomAD
rs747099045 CA4682819	1181	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780213767 CA4682818	1181	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA370774716 CA370774719 rs1241107046	1183	H>Q		No	ClinGen gnomAD
CA4682821 rs781712376	1184	K>N		No	ClinGen ExAC gnomAD
CA4682820 rs768666883	1184	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1586372098 CA370774767	1185	Y>S		No	ClinGen Ensembl
rs180766148 CA4682823	1189	S>P		No	ClinGen 1000Genomes ExAC gnomAD
CA174130992 rs915918273	1191	E>A		No	ClinGen Ensembl
rs1196421134 CA370774879	1192	V>G		No	ClinGen gnomAD
CA370774875 rs1445798159	1192	V>I		No	ClinGen gnomAD
CA4682825 rs186151980	1194	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4682826 COSM1456256 rs186151980	1194	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel CA370774890 COSM171238 rs1586372146	1194	A>V	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA Ensembl
rs760317554 CA4682828	1195	L>F		No	ClinGen ExAC gnomAD
rs763695534 CA4682829	1197	V>F		No	ClinGen ExAC TOPMed gnomAD
rs763695534 CA370774904	1197	V>I		No	ClinGen ExAC TOPMed gnomAD
CA370774911 rs1383916733	1198	S>N		No	ClinGen gnomAD
rs1340657749 CA370774937	1202	E>K		No	ClinGen gnomAD
CA4682833 rs750220666	1203	N>K		No	ClinGen ExAC gnomAD
CA370774967 rs1233461242	1206	D>G		No	ClinGen gnomAD
CA174131041 rs1048489218	1207	Y>C		No	ClinGen Ensembl
CA174131059 rs570494287	1209	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
CA370775000 rs1287357718	1211	I>T		No	ClinGen gnomAD
rs780270634 CA4682835	1211	I>V		No	ClinGen ExAC gnomAD
CA370775003 rs556222960	1212	M>L		No	ClinGen 1000Genomes ExAC TOPMed
CA4682837 rs556222960	1212	M>V		No	ClinGen 1000Genomes ExAC TOPMed
CA370775025 rs1269490054	1214	D>E		No	ClinGen gnomAD
CA370775023 rs1197370750	1214	D>G		No	ClinGen gnomAD
CA4682838 rs781107462	1216	S>N		No	ClinGen ExAC gnomAD
CA370775040 rs909950166 CA174131106	1216	S>R		No	ClinGen TOPMed
CA4682839 rs201077230	1217	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370775052 rs1363056775	1218	E>G		No	ClinGen gnomAD
TCGA novel	1218	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770231252 CA4682840	1220	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4682841 rs778275685	1220	R>H		No	ClinGen ExAC gnomAD
CA370775085 rs1255906683	1223	C>S		No	ClinGen gnomAD
rs771407695 CA370775113 CA4682843	1227	V>L		No	ClinGen ExAC gnomAD
rs771407695 CA4682844	1227	V>M		No	ClinGen ExAC gnomAD
CA370775154 rs1586373322	1231	Y>F		No	ClinGen Ensembl
rs1448918581 CA370775152	1231	Y>H		No	ClinGen TOPMed
rs776283884 CA4682873	1233	E>G		No	ClinGen ExAC gnomAD
TCGA novel	1233	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1236	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA174131922 rs975170516	1238	D>Y		No	ClinGen TOPMed
CA4682874 rs747629106	1240	Y>H		No	ClinGen ExAC gnomAD
CA370775225 rs1208161327	1241	I>L		No	ClinGen TOPMed
rs769337421 CA4682875	1242	R>T		No	ClinGen ExAC gnomAD
rs1435288760 CA370775259	1243	Y>*		No	ClinGen TOPMed
TCGA novel	1243	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342514912 CA370775263	1244	L>M		No	ClinGen gnomAD
CA4682896 rs772729468	1245	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA174132727 rs1025377275	1247	L>I		No	ClinGen TOPMed
rs1359661503 CA370775307	1248	R>*		No	ClinGen TOPMed
CA370775306 rs1359661503	1248	R>G		No	ClinGen TOPMed
rs1343891548 CA370775311	1248	R>Q		No	ClinGen TOPMed gnomAD
rs969704067 CA174132733	1250	L>W		No	ClinGen TOPMed
rs748752910 CA4682897	1251	H>L		No	ClinGen ExAC gnomAD
CA174132752 rs981421684	1252	R>*		No	ClinGen TOPMed gnomAD
CA4682899 rs774216444	1252	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA370775367 rs759384346	1253	D>H		No	ClinGen ExAC TOPMed gnomAD
CA4682900 rs759384346	1253	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4682901 rs767338104	1254	C>R		No	ClinGen ExAC gnomAD
rs573766630 CA4682902	1254	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4682903 rs760931038	1255	E>K		No	ClinGen ExAC TOPMed gnomAD
rs754003348 CA4682905	1257	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs765856313 CA4682907	1258	T>S		No	ClinGen ExAC gnomAD
rs1157453366 CA370775520	1263	T>M		No	ClinGen TOPMed gnomAD
rs780439368 CA4682910	1264	L>I		No	ClinGen ExAC gnomAD
rs1348162221 CA370775542	1265	L>P		No	ClinGen gnomAD
rs751818495 CA4682911	1265	L>V		No	ClinGen ExAC gnomAD
TCGA novel	1267	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1268	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370775575 COSM4138670 rs777335881	1268	A>P	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA4682913 rs777335881	1268	A>T		No	ClinGen ExAC gnomAD
rs902318802 CA174134440	1275	D>E		No	ClinGen TOPMed gnomAD
CA4682957 rs369716272	1275	D>N		No	ClinGen ESP ExAC gnomAD
CA4682956 rs369716272	1275	D>Y		No	ClinGen ESP ExAC gnomAD
rs746920041 CA4682958	1276	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1363550019 CA370776201	1277	P>L		No	ClinGen TOPMed gnomAD
CA4682960 rs754864243	1278	C>F		No	ClinGen ExAC gnomAD
rs773246540 CA4682964	1280	P>L		No	ClinGen ExAC TOPMed gnomAD
CA4682963 rs770142417	1280	P>T		No	ClinGen ExAC gnomAD
rs1201587983 CA370776221	1281	H>D		No	ClinGen gnomAD
rs1201587983 CA370776222	1281	H>Y		No	ClinGen gnomAD
CA370776253 rs2659585	1285	K>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4682965 VAR_053066 rs2659585	1285	K>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs774962614 CA4682967	1286	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1195629446 CA370776276	1288	Y>*		No	ClinGen TOPMed
CA174134464 rs536700708	1288	Y>S		No	ClinGen TOPMed
rs760011934 CA4682968	1289	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs775864297 CA4682970	1290	V>A		No	ClinGen ExAC gnomAD
CA4682969 rs767961154	1290	V>L		No	ClinGen ExAC gnomAD
CA370776294 rs1375772944	1291	Y>F		No	ClinGen TOPMed gnomAD
rs908938338 CA174134475	1293	Q>*		No	ClinGen TOPMed
rs568854508 CA370776311	1294	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
CA174134479 rs568854508	1294	Q>E		No	ClinGen 1000Genomes gnomAD
CA370776317 rs1284349947	1295	E>K		No	ClinGen TOPMed
CA4682972 rs764956345	1298	E>G		No	ClinGen ExAC gnomAD
rs1213953128 CA370776347	1298	E>K		No	ClinGen TOPMed
CA4682974 rs757996626	1301	Y>H		No	ClinGen ExAC gnomAD
CA174134490 rs1011859995	1303	E>G		No	ClinGen Ensembl
CA370776436 rs1299532374	1305	I>V		No	ClinGen TOPMed gnomAD
rs765779557 CA4682975	1306	S>P		No	ClinGen ExAC gnomAD
CA4682978 rs199633921	1309	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA370776504 rs1234427949	1310	K>E		No	ClinGen gnomAD
CA4682979 rs747967234	1311	G>V		No	ClinGen ExAC gnomAD
CA370776529 rs1586376816	1312	K>E		No	ClinGen Ensembl
rs1423116843 CA370777679	1313	M>I		No	ClinGen gnomAD
TCGA novel	1318	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1162118960 CA370777724	1319	K>R		No	ClinGen gnomAD
CA370777741 rs1369653472	1322	K>Q		No	ClinGen gnomAD
CA4683002 rs148109382	1322	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs61732776 CA174136770	1323	E>D		No	ClinGen Ensembl
CA370777756 rs1228314055	1323	E>G		No	ClinGen gnomAD
rs202159108 CA174136764	1323	E>Q		No	ClinGen 1000Genomes gnomAD
rs1159768966 CA370777773	1324	L>F		No	ClinGen TOPMed
CA370777779 rs1398637188	1325	A>S		No	ClinGen gnomAD
rs1449464520 CA370777784	1325	A>V		No	ClinGen gnomAD
CA370777809 rs1287810838	1327	T>I		No	ClinGen gnomAD
rs534293524 CA4683004	1329	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs937215410 CA174136807	1330	S>N		No	ClinGen gnomAD
CA4683005 rs772127774	1331	K>N		No	ClinGen ExAC TOPMed gnomAD
CA174136825 rs1055482182	1332	V>A		No	ClinGen TOPMed gnomAD
rs780605885 CA4683006	1332	V>I		No	ClinGen ExAC gnomAD
rs780605885 CA370777870	1332	V>L		No	ClinGen ExAC gnomAD
CA4683008 rs769116711	1335	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs575101093 CA4683010	1336	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA370777958 rs562203977	1338	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4683012 rs562203977	1338	L>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374629847 CA4683013	1340	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs980519407 CA174136852	1340	N>K		No	ClinGen TOPMed gnomAD
CA174143039 rs760163787	1343	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4683034 rs760163787	1343	K>T		No	ClinGen ExAC TOPMed gnomAD
rs776618671 CA4683036	1344	K>R		No	ClinGen ExAC gnomAD
rs1376194980 CA370778250	1345	R>G		No	ClinGen TOPMed gnomAD
rs1239294263	1345	R>G	Variant assessed as Somatic; 4.759e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA370778259 rs1245774281	1346	A>S		No	ClinGen TOPMed gnomAD
CA174143050 rs923240221	1347	S>L		No	ClinGen Ensembl
TCGA novel	1349	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370778315 rs1487267950	1354	K>E		No	ClinGen gnomAD
CA4683037 rs761582558	1355	A>S		No	ClinGen ExAC gnomAD
CA174143054 rs374820051	1355	A>V		No	ClinGen TOPMed gnomAD
rs373953447 CA4683039	1356	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs549500281 CA174143069	1359	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA4683042 rs147237741	1366	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4683043 rs751599580	1367	Y>C		No	ClinGen ExAC gnomAD
CA174143082 rs953503717	1368	Y>C		No	ClinGen TOPMed gnomAD
CA370778435 rs1327711374	1369	G>R		No	ClinGen gnomAD
CA4683045 rs781611473	1371	G>V		No	ClinGen ExAC gnomAD
CA174143099 rs536521952	1373	P>L		No	ClinGen 1000Genomes
rs569578600 CA174143095	1373	P>S		No	ClinGen 1000Genomes
CA4683047 rs368136518	1377	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs757684547 CA4683070	1380	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1188663535 CA370780776	1383	Y>C		No	ClinGen TOPMed gnomAD
rs779639515 CA4683071	1384	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA174147315 rs139768026	1384	R>W		No	ClinGen ESP TOPMed gnomAD
CA4683072 rs754369486	1385	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1229336753 CA370780794	1385	G>R		No	ClinGen TOPMed
CA174147329 rs754369486	1385	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1021649841 CA174147331	1391	R>*		No	ClinGen TOPMed gnomAD
CA370780883 rs1436196857	1391	R>Q		No	ClinGen gnomAD
rs768101475 CA4683073	1393	D>N		No	ClinGen ExAC gnomAD
rs201835972 CA370780950	1397	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1443053133 CA370780962	1397	R>S		No	ClinGen TOPMed
rs1339473936 CA370780983	1399	L>F		No	ClinGen TOPMed gnomAD
CA370780977 rs1392116443	1399	L>I		No	ClinGen TOPMed
rs377293207 CA4683076	1400	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA174147354 rs377293207	1400	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4683077 rs773079987	1401	Q>L		No	ClinGen ExAC gnomAD
CA174147355 rs773079987	1401	Q>R		No	ClinGen ExAC gnomAD
rs113752971 CA4683078	1402	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370781002 rs1277120143	1403	P>A		No	ClinGen gnomAD
TCGA novel	1404	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1404	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150585750 CA4683080	1404	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777428575 CA4683081	1405	A>V		No	ClinGen ExAC TOPMed gnomAD
CA4683083 rs752825099	1406	E>D		No	ClinGen ExAC gnomAD
rs760779248 CA4683084	1407	K>M		No	ClinGen ExAC gnomAD
CA4683087 rs757736127	1408	M>K		No	ClinGen ExAC gnomAD
rs764754997 CA4683085	1408	M>L		No	ClinGen ExAC gnomAD
CA4683088 rs757736127	1408	M>T		No	ClinGen ExAC gnomAD
CA4683086 rs764754997	1408	M>V		No	ClinGen ExAC gnomAD
CA174147441 rs113338348	1409	T>S		No	ClinGen Ensembl
rs750707367 CA4683089	1412	T>A		No	ClinGen ExAC gnomAD
CA4683091 rs530308273	1412	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4683090 rs530308273	1412	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA370781064 rs1359322402	1413	P>R		No	ClinGen gnomAD
rs769284123 CA4683093	1413	P>S		No	ClinGen ExAC gnomAD
TCGA novel	1415	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749197555 CA370781088	1417	D>A		No	ClinGen ExAC TOPMed gnomAD
rs749197555 CA4683095	1417	D>G		No	ClinGen ExAC TOPMed gnomAD
CA370781086 rs1466561670	1417	D>H		No	ClinGen TOPMed
CA370781085 rs1466561670	1417	D>N		No	ClinGen TOPMed
COSM1098446 rs538914889 CA4683097	1420	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1350464715 CA370781138	1421	S>C		No	ClinGen gnomAD
rs1235518532 CA370781146	1422	P>A		No	ClinGen gnomAD
CA370781158 rs1368132868	1423	K>E		No	ClinGen TOPMed
TCGA novel	1423	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1569104 CA4683100 rs775562404	1424	Q>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1487437990 CA370781178	1424	Q>P		No	ClinGen TOPMed gnomAD
CA370781176 rs1487437990	1424	Q>R		No	ClinGen TOPMed gnomAD
TCGA novel	1426	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370781250 rs1456924975	1426	M>V		No	ClinGen gnomAD
rs983331191 CA174148395	1427	Q>R		No	ClinGen Ensembl
CA370781275 rs1160962090	1428	C>G		No	ClinGen gnomAD
rs766626264 CA4683129	1428	C>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1431	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4683130 rs751868710	1432	K>N		No	ClinGen ExAC
CA370781366 rs755791573	1435	M>L		No	ClinGen ExAC TOPMed gnomAD
rs755791573 CA4683131	1435	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4683132 rs763666721	1436	S>N		No	ClinGen ExAC TOPMed gnomAD
CA370781386 rs763666721	1436	S>T		No	ClinGen ExAC TOPMed gnomAD
COSM1456258 CA174148421 rs765162352	1438	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs867403434 CA174148414	1438	P>S		No	ClinGen Ensembl
CA370781419 rs917710196	1439	P>H		No	ClinGen TOPMed gnomAD
rs917710196 CA174148430	1439	P>L		No	ClinGen TOPMed gnomAD
rs917710196 CA370781421	1439	P>R		No	ClinGen TOPMed gnomAD
rs1586388285 CA370781413	1439	P>T		No	ClinGen Ensembl
TCGA novel	1440	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs550254916 CA4683135	1441	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1257391507 CA370781456	1442	K>E		No	ClinGen gnomAD
rs1044430074 CA174148437	1443	D>G		No	ClinGen TOPMed
CA4683136 rs149714061	1443	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4683137 rs758264073	1444	K>R		No	ClinGen ExAC gnomAD
rs758264073 CA370781487	1444	K>T		No	ClinGen ExAC gnomAD
rs1314993922 CA370781498	1445	P>A		No	ClinGen TOPMed
CA4683138 rs780019024	1445	P>H		No	ClinGen ExAC gnomAD
CA370781503 rs780019024	1445	P>R		No	ClinGen ExAC gnomAD
CA370781496 rs1314993922	1445	P>T		No	ClinGen TOPMed
rs746763055 CA4683139	1446	V>I		No	ClinGen ExAC gnomAD
rs1475275482 CA370781533	1449	Q>*		No	ClinGen gnomAD
rs763793115 CA4683158	1453	Y>C		No	ClinGen ExAC gnomAD
rs1364254450 CA370781810	1454	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4683159 rs753484230	1454	Y>D		No	ClinGen ExAC
CA4683160 rs761426731	1458	E>G		No	ClinGen ExAC gnomAD
CA4683161 rs764631312	1459	V>L		No	ClinGen ExAC gnomAD
rs1586389792 CA370781852	1460	Q>L		No	ClinGen Ensembl
CA4683162 rs749901126	1461	Q>*		No	ClinGen ExAC gnomAD
CA370781895 rs1219430058	1463	R>K		No	ClinGen TOPMed
rs557494618 CA174149796	1463	R>S		No	ClinGen gnomAD
rs1231843036 CA370781908	1464	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1342486082 CA370781903	1464	Y>H		No	ClinGen TOPMed
TCGA novel	1465	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs914091171 CA174149802	1465	S>T		No	ClinGen TOPMed
rs1239853432 CA370781933	1466	R>Q		No	ClinGen gnomAD
CA4683163 rs578017587	1466	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA4683164 rs772062014	1467	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4683165 rs772062014	1467	P>Q		No	ClinGen ExAC gnomAD
rs781631730 CA4683167	1468	F>L		No	ClinGen ExAC gnomAD
CA4683169 rs140272003	1469	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748291582 CA4683168	1469	R>W		No	ClinGen ExAC TOPMed gnomAD
CA174149842 rs926369452	1471	G>A		No	ClinGen TOPMed
rs760291418 CA4683170	1472	E>K		No	ClinGen ExAC TOPMed gnomAD
CA370782057 rs771438902	1474	D>G		No	ClinGen ExAC TOPMed gnomAD
CA4683172 rs771438902	1474	D>V		No	ClinGen ExAC TOPMed gnomAD
CA4683173 rs370518849	1476	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465754870 CA370782081	1476	D>H		No	ClinGen TOPMed
rs1003190580 CA370782097	1477	N>D		No	ClinGen Ensembl
CA174149872 rs1003190580	1477	N>H		No	ClinGen Ensembl
CA4683174 rs530733277	1477	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1480	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4683194 rs746351464 COSM3412945	1481	T>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1385775300 CA370782621	1483	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1223790832 CA370782638	1484	I>T		No	ClinGen gnomAD
rs775748880 CA4683196	1485	E>A		No	ClinGen ExAC TOPMed gnomAD
CA4683198 rs146409120	1486	R>Q		No	ClinGen ESP ExAC gnomAD
CA4683197 rs761058988	1486	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1586390608 CA370782675	1487	T>N		No	ClinGen Ensembl
CA4683199 rs562598361	1488	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762588489 CA4683200	1490	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4683201 COSM3781431 rs141436803	1490	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4683202 rs141436803	1490	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1491	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1476253933 CA370782717	1493	Y>C		No	ClinGen gnomAD
CA4683204 rs548221872	1495	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1495	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4683205 rs752460672	1497	G>W		No	ClinGen ExAC gnomAD
CA174150736 rs565738674 CA370782825	1506	Q>H		No	ClinGen TOPMed gnomAD
CA370782821 rs1409098391	1506	Q>R		No	ClinGen gnomAD
rs1356129547 CA370782862	1509	T>I		No	ClinGen gnomAD
rs1356129547 CA370782858	1509	T>K		No	ClinGen gnomAD
CA370783135 rs1586392627	1511	E>K		No	ClinGen Ensembl
rs368569076 CA174152668	1513	S>N		No	ClinGen ESP TOPMed gnomAD
CA174152671 rs896016927	1516	E>D		No	ClinGen TOPMed
COSM1098449 rs200100381 CA4683227	1520	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed
rs1351256307 CA370783205	1521	T>S		No	ClinGen TOPMed
CA174152692 rs376476211	1522	M>L		No	ClinGen ExAC gnomAD
CA4683229 rs376476211	1522	M>V		No	ClinGen ExAC gnomAD
rs1381159564 CA370783236	1525	T>I		No	ClinGen gnomAD
CA370783241 rs1243807955	1526	N>S		No	ClinGen gnomAD
CA4683233 rs780463554	1527	E>K		No	ClinGen ExAC TOPMed gnomAD
CA370783266 rs1436188691	1530	S>R		No	ClinGen gnomAD
CA4683236 rs781626411	1531	N>S		No	ClinGen ExAC TOPMed gnomAD
CA370783296 rs1380061571	1534	Q>E		No	ClinGen gnomAD
rs368672119 CA4683237	1536	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA4683238 rs770733184	1537	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200783757 CA370783340	1540	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771609409 CA4683241	1540	R>Q		No	ClinGen ExAC gnomAD
rs200783757 CA4683240	1540	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA174152802 rs753501029	1541	S>C		No	ClinGen Ensembl
CA370783343 rs1586392717	1541	S>T		No	ClinGen Ensembl
rs760676476 CA4683243 COSM269055	1545	H>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA4683244 rs768412030	1546	P>S		No	ClinGen ExAC gnomAD
rs750610866 CA370783391	1549	M>L		No	ClinGen ExAC gnomAD
rs750610866 CA4683248	1549	M>V		No	ClinGen ExAC gnomAD
CA4683250 rs766465346	1553	G>A		No	ClinGen ExAC gnomAD
rs1362889149 CA370783424	1554	I>L		No	ClinGen gnomAD
CA4683252 rs755545013	1555	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA370783434 rs1385133240	1556	D>N		No	ClinGen gnomAD
CA370783447 rs1160711150	1557	P>L		No	ClinGen TOPMed
CA4683256 rs778776808	1559	V>D		No	ClinGen ExAC gnomAD
rs756518291 CA4683255	1559	V>I	Variant assessed as Somatic; 0.00037 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1180527240 CA370783460	1560	M>L		No	ClinGen gnomAD
CA370783467 rs1563229864	1561	G>R		No	ClinGen Ensembl
CA174152891 rs1039204053	1562	G>C		No	ClinGen TOPMed
rs771567968 CA4683258 CA370783483	1563	F>L		No	ClinGen ExAC TOPMed gnomAD
rs745522759 CA4683257	1563	F>L		No	ClinGen ExAC gnomAD
CA174152914 rs900785916	1567	E>K		No	ClinGen Ensembl
TCGA novel	1568	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs973939511 CA174094398	1572	T>A		No	ClinGen gnomAD
CA370768822 rs1175815423	1572	T>I		No	ClinGen gnomAD
rs745668075	1572	T>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1453188583 CA370768851 CA370768853	1574	K>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
rs754232355 CA4683298	1574	K>R		No	ClinGen ExAC gnomAD
CA4683300 rs137938378	1577	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780691483 CA4683301	1577	Q>R		No	ClinGen ExAC gnomAD
CA4683302 rs747586082	1578	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA174094417 rs369873888	1579	H>Y		No	ClinGen ESP TOPMed gnomAD
rs756073872 CA4683303	1580	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4683304 rs150446436	1582	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs371029714 CA4683306	1583	Q>L		No	ClinGen ExAC gnomAD
rs371029714 CA174094440	1583	Q>R		No	ClinGen ExAC gnomAD
TCGA novel rs746108362 CA4683308	1584	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC TOPMed gnomAD
CA370768985 rs1259422148	1584	E>G		No	ClinGen gnomAD
rs774695084 CA4683307	1584	E>K		No	ClinGen ExAC TOPMed
rs1039359491 CA174094451	1586	V>I		No	ClinGen Ensembl
rs1332019086 CA370769048	1590	K>Q		No	ClinGen TOPMed gnomAD
rs764746624 CA4683312	1591	R>*		No	ClinGen ExAC TOPMed gnomAD
CA370769058 rs776972444	1591	R>L		No	ClinGen ExAC gnomAD
rs776972444 CA4683313	1591	R>Q		No	ClinGen ExAC gnomAD
CA370769070 rs1326018398	1593	I>M		No	ClinGen TOPMed
rs777251614 CA4683330	1599	L>R		No	ClinGen ExAC
rs1464008697 CA370769435	1601	T>A		No	ClinGen Ensembl
CA4683333 rs773593733	1605	R>C		No	ClinGen ExAC TOPMed gnomAD
rs763250992 CA4683334	1605	R>H		No	ClinGen ExAC gnomAD
TCGA novel	1606	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1032132338 CA174095113	1606	I>V		No	ClinGen TOPMed gnomAD
rs767200338 CA4683335	1608	G>R		No	ClinGen ExAC gnomAD
rs143888591 CA4683338	1609	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA4683337 rs760238755	1609	E>K		No	ClinGen ExAC TOPMed gnomAD
CA174095127 rs1020797028	1612	T>A		No	ClinGen gnomAD
rs1020797028 CA370769504	1612	T>S		No	ClinGen gnomAD
CA370769510 rs1563231777	1613	E>Q		No	ClinGen Ensembl
CA370769517 rs1164986859	1614	Q>*		No	ClinGen gnomAD
rs1563231787 CA370769536	1616	K>N		No	ClinGen Ensembl
CA370769539 rs1478654145	1617	P>A		No	ClinGen gnomAD
COSM1098450 CA4683342 rs139076084	1617	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA4683344 rs758236452	1619	H>R		No	ClinGen ExAC gnomAD
CA370769564 rs1353084428	1621	R>Q		No	ClinGen gnomAD
rs780489865 CA4683345	1621	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4683346 rs142994204	1622	L>W		No	ClinGen ESP ExAC gnomAD
CA4683348 rs781134038	1623	S>Y		No	ClinGen ExAC
rs773681650 CA4683351	1627	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770221297 CA4683350	1627	R>W		No	ClinGen ExAC gnomAD
CA4683352 rs763286008	1630	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4683353 rs201421426	1633	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs760250548 CA4683355	1634	E>G		No	ClinGen ExAC TOPMed gnomAD
CA4683354 rs774643408	1634	E>K		No	ClinGen ExAC gnomAD
rs763764172 CA4683356	1635	K>E		No	ClinGen ExAC
CA4683358 rs761365344	1637	Y>C		No	ClinGen ExAC gnomAD
rs750381126 CA4683360	1639	V>F		No	ClinGen ExAC gnomAD
CA174095224 rs369004381	1640	I>M		No	ClinGen ESP
CA4683361 rs758324521	1640	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA370769690 rs1391854358	1641	T>A		No	ClinGen gnomAD
CA4683362 rs780006815	1641	T>I		No	ClinGen ExAC gnomAD
rs202083309 CA4683380	1643	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs754776630 CA4683381	1645	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4683383 rs372542025	1647	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA370769751 rs1323187792	1649	R>K		No	ClinGen gnomAD
CA370769777 rs1440662733	1652	S>R		No	ClinGen gnomAD
rs777838021 CA4683385	1653	R>C		No	ClinGen ExAC TOPMed gnomAD
rs375194434 COSM1204387 CA4683386	1653	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA174096501 rs375194434	1653	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375194434 CA4683387	1653	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4683388 rs779370653	1654	T>A		No	ClinGen ExAC gnomAD
rs144175383 CA4683389	1654	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776202920 CA4683391	1655	G>V		No	ClinGen ExAC gnomAD
CA370769794 rs1465141878	1656	S>C		No	ClinGen gnomAD
CA370769797 rs747850494	1657	I>F		No	ClinGen ExAC TOPMed gnomAD
rs755261617 CA370769801	1657	I>M		No	ClinGen Ensembl
CA4683392 rs747850494	1657	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA370769803 rs1264744023	1658	V>M		No	ClinGen gnomAD
CA370769809 rs1348690144	1659	L>F		No	ClinGen TOPMed
CA4683393 rs769504068	1659	L>P		No	ClinGen ExAC gnomAD
CA370769818 rs1199191759	1660	P>A		No	ClinGen gnomAD
CA370769835 rs1362679773	1661	Y>C		No	ClinGen gnomAD
rs1471342160 CA370769845	1662	I>F		No	ClinGen gnomAD
rs772875999 CA4683394	1662	I>M		No	ClinGen ExAC gnomAD
TCGA novel	1662	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762499075 CA4683395	1666	T>A		No	ClinGen ExAC gnomAD
rs1461193958 CA370769900	1666	T>S		No	ClinGen gnomAD
CA370769905 rs1324301433	1667	L>V		No	ClinGen gnomAD
CA4683397 rs573994262	1668	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1331052 CA4683396 rs766466638	1668	R>W	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA370769943 rs1328477729	1670	L>F		No	ClinGen gnomAD
CA370769946 rs1351994124	1671	S>T		No	ClinGen TOPMed
CA370769957 rs1334012980	1672	I>V		No	ClinGen gnomAD
rs759310303 CA4683398	1673	T>A		No	ClinGen ExAC gnomAD
rs368086703 CA174096555	1675	V>I		No	ClinGen ESP
rs1290073610 CA370770003	1676	T>A		No	ClinGen TOPMed gnomAD
CA4683399 rs371196528	1677	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA370770030 rs1159430928	1678	S>F		No	ClinGen TOPMed
TCGA novel	1680	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764251890 CA4683402	1683	S>T		No	ClinGen ExAC gnomAD
rs1249410255 CA370770114	1685	N>D		No	ClinGen TOPMed gnomAD
COSM2157557 CA4683405 rs779356812	1686	S>L	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA370770132 rs1183725829	1686	S>P		No	ClinGen TOPMed gnomAD
rs1211629850 CA370770144	1687	S>P		No	ClinGen TOPMed
rs780470454 CA4683408	1689	N>H		No	ClinGen ExAC gnomAD
CA4683409 rs747295913	1689	N>S		No	ClinGen ExAC gnomAD
CA370770182 rs1167502630	1690	A>P		No	ClinGen gnomAD
rs111375545 CA174096574	1691	P>H		No	ClinGen Ensembl
CA4683411 rs148687062	1694	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148687062 CA174096578	1694	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4683413 rs770555269	1695	G>E		No	ClinGen ExAC gnomAD
TCGA novel	1695	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370770244 rs747590108 CA174096604	1697	D>E		No	ClinGen TOPMed gnomAD
CA4683415 rs369077298	1697	D>G		No	ClinGen ESP ExAC gnomAD
CA4683416 rs771868527	1698	G>D		No	ClinGen ExAC TOPMed gnomAD
COSM1552545 rs762025197 CA4683438	1699	S>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4683439 rs765336668	1700	I>F		No	ClinGen ExAC TOPMed gnomAD
CA370770268 rs765336668	1700	I>V		No	ClinGen ExAC TOPMed gnomAD
CA370770277 rs1586403016	1701	L>W		No	ClinGen Ensembl
CA174099429 rs777412384	1703	P>A		No	ClinGen Ensembl
CA4683440 rs374068453	1705	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4683441 rs762915553	1707	R>C		No	ClinGen ExAC TOPMed gnomAD
rs141268632 CA4683442	1707	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370770316 rs141268632	1707	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370770313 rs762915553	1707	R>S		No	ClinGen ExAC TOPMed gnomAD
rs867485732 CA174099474	1709	A>D		No	ClinGen Ensembl
CA370770324 rs864622027	1709	A>T		No	ClinGen TOPMed
CA370770333 rs1297794253	1710	S>L		No	ClinGen gnomAD
rs377379890 CA4683445	1714	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA4683446 rs753075556	1715	V>I		No	ClinGen ExAC TOPMed gnomAD
rs756959389 CA4683447	1717	D>E		No	ClinGen ExAC gnomAD
rs1033055961 CA174099518	1719	S>C		No	ClinGen TOPMed gnomAD
CA174099510 rs1034860504	1719	S>P		No	ClinGen TOPMed
rs539082224 CA4683448	1720	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs746960094 CA4683452	1725	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1487623006 CA370770425	1725	S>N		No	ClinGen gnomAD
rs747888032 CA4683455	1726	E>D		No	ClinGen ExAC TOPMed gnomAD
CA4683454 rs139203317	1726	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA370770444 rs770100848	1728	R>G		No	ClinGen ExAC TOPMed gnomAD
rs62502357 CA174099573	1728	R>L		No	ClinGen ExAC gnomAD
COSM486330 rs62502357 CA4683457	1728	R>Q	kidney [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs770100848 CA4683456	1728	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4683458 rs763157540	1730	S>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1320973394 CA370770459	1730	S>R		No	ClinGen gnomAD
CA4683459 rs766352033	1731	K>R		No	ClinGen ExAC gnomAD
CA4683461 rs760154065	1736	D>G		No	ClinGen ExAC gnomAD
rs774509784 CA4683460	1736	D>H		No	ClinGen ExAC gnomAD
CA4683462 rs768092513	1738	S>I		No	ClinGen ExAC gnomAD
rs1286929845 CA370770573	1740	S>C		No	ClinGen gnomAD
rs753165417 CA4683463	1740	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4683465 rs370704516	1740	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1563234598 CA370770605	1742	S>F		No	ClinGen Ensembl
rs1320338237 CA370770607	1743	Q>*		No	ClinGen gnomAD
CA370770621 rs750033003	1744	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4683466 rs750033003	1744	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1247531380 CA370770642	1745	I>T		No	ClinGen TOPMed gnomAD
CA4683467 rs34067851	1749	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs572652234 CA174099627	1749	A>P		No	ClinGen gnomAD
rs34067851 CA370770694	1749	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1225927572 CA370770695	1750	P>S		No	ClinGen TOPMed
rs1254150978 CA370770726	1752	P>S		No	ClinGen gnomAD
COSM3432301 rs1159881324 CA370770735	1753	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
COSM3395245 CA370770854 rs1586403752	1756	S>N	pancreas [Cosmic]	No	ClinGen cosmic curated Ensembl
rs764381959 CA4683484	1758	T>A		No	ClinGen ExAC gnomAD
rs1240001013 CA370770880	1758	T>N		No	ClinGen TOPMed
rs1241122551 CA370770890	1759	R>K		No	ClinGen gnomAD
CA4683485 rs754163755	1760	K>E		No	ClinGen ExAC gnomAD
rs762543346 CA370770914	1761	A>P		No	ClinGen ExAC gnomAD
rs762543346 COSM1098453 CA4683486	1761	A>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs953136685 CA174100049	1762	Q>K		No	ClinGen Ensembl
CA4683488 rs751118173	1763	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1285138080 CA370770930	1763	R>S		No	ClinGen gnomAD
rs754449630 CA4683489	1765	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1226418534 CA370770942	1765	K>R		No	ClinGen gnomAD
rs914740522 CA174100075	1771	D>V		No	ClinGen Ensembl
CA4683492 rs551362154	1773	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs146451266 CA4683491	1773	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1775	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149662290 CA174100099	1776	P>A		No	ClinGen ESP ExAC gnomAD
CA4683494 rs149662290	1776	P>T		No	ClinGen ESP ExAC gnomAD
rs771331937 CA4683495	1778	H>D		No	ClinGen ExAC gnomAD
CA4683496 rs779250831	1778	H>P		No	ClinGen ExAC TOPMed gnomAD
CA4683498 rs145873633	1779	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1360136031 CA370771052	1782	P>L		No	ClinGen TOPMed
CA4683499 rs775584370	1784	Q>H		No	ClinGen ExAC gnomAD
rs761092383 CA4683500	1786	T>I		No	ClinGen ExAC gnomAD
CA370771082 rs1171475660	1787	P>L		No	ClinGen gnomAD
rs769164073 CA4683501	1788	L>V		No	ClinGen ExAC TOPMed gnomAD
CA370771094 rs1239431381	1789	S>I		No	ClinGen TOPMed gnomAD
CA4683502 rs776880474	1791	P>S		No	ClinGen ExAC gnomAD
CA370771110 rs1457860585	1792	P>T		No	ClinGen gnomAD
TCGA novel	1795	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs148999810 CA4683504	1795	P>L		No	ClinGen ESP ExAC gnomAD
rs148999810 CA174100161	1795	P>R		No	ClinGen ESP ExAC gnomAD
CA174100170 rs1045726126	1796	K>T		No	ClinGen TOPMed
rs1586403918 CA370771142	1797	A>D		No	ClinGen Ensembl
CA370771166 rs1273132181	1801	L>R		No	ClinGen TOPMed gnomAD
rs1351181657	1802	S>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4683522 rs770126778	1802	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4683523 rs773505640	1804	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs767152048 CA4683525	1805	S>L		No	ClinGen ExAC TOPMed gnomAD
CA370771289 rs1250504697	1807	Q>*		No	ClinGen gnomAD
rs1471885240 CA370771301	1808	T>A		No	ClinGen gnomAD
CA370771322 rs1455549329	1809	D>E		No	ClinGen TOPMed
CA4683528 rs563250912	1812	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371858823 CA4683529	1812	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1190700055 CA370771366	1813	A>S		No	ClinGen TOPMed
rs987600093 CA174101068	1815	P>S		No	ClinGen TOPMed
rs375759660 CA4683531	1816	V>F		No	ClinGen ESP ExAC gnomAD
rs375759660 CA4683532	1816	V>I		No	ClinGen ESP ExAC gnomAD
CA370771408 rs780298813	1817	P>A		No	ClinGen ExAC TOPMed gnomAD
CA370771414 rs1329059598	1817	P>R		No	ClinGen TOPMed
CA4683534 rs780298813	1817	P>T		No	ClinGen ExAC TOPMed gnomAD
rs147708333 CA4683535	1818	P>S		No	ClinGen ESP ExAC gnomAD
rs1290169789 CA370771432	1819	P>A		No	ClinGen gnomAD
CA4683538 rs370116101	1821	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA370771467 rs748664904	1822	P>A		No	ClinGen ExAC TOPMed gnomAD
rs193082074 CA4683540	1822	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs193082074 CA4683541	1822	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4683539 rs748664904	1822	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4683543 rs771666134	1823	K>E		No	ClinGen ExAC gnomAD
rs34013556	1823	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1184910384 CA370771483	1823	K>R		No	ClinGen TOPMed gnomAD
rs34013556	1824	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA370771497 rs1396981469	1824	S>N		No	ClinGen Ensembl
rs1251889632 CA370771502	1824	S>R		No	ClinGen TOPMed gnomAD
CA4683544 rs142524235	1825	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA174101109 rs985918027	1827	Y>C		No	ClinGen TOPMed
CA4683545 rs760160756	1827	Y>N		No	ClinGen ExAC gnomAD
rs1370615868 CA370771556	1828	E>G		No	ClinGen gnomAD
TCGA novel	1829	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4683547 rs776215680	1832	R>K		No	ClinGen ExAC gnomAD
rs1309712989 CA370771612	1833	N>K		No	ClinGen TOPMed gnomAD
CA4683548 rs146650594	1833	N>S		No	ClinGen ESP ExAC gnomAD
rs1397130672 CA370771614	1834	S>T		No	ClinGen gnomAD
rs1197397447 CA370771620	1835	T>P		No	ClinGen gnomAD
VAR_033887 rs35688737 CA4683550	1836	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs150680064 CA4683571	1838	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150680064 CA4683572	1838	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370771841 rs1349449398	1838	A>V		No	ClinGen TOPMed
CA4683573 rs752817440	1839	P>T		No	ClinGen ExAC gnomAD
rs141433952 CA370771850	1840	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4683574 rs141433952	1840	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4683575 rs141433952	1840	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1187369915 CA370771869	1844	R>*		No	ClinGen TOPMed gnomAD
CA4683577 rs150394074	1844	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4683576 rs150394074	1844	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs779369988 CA4683578	1846	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772506526 CA174102357	1848	K>E		No	ClinGen Ensembl
CA370771901 rs1173799722	1849	A>E		No	ClinGen TOPMed gnomAD
rs1173799722 CA370771903	1849	A>V		No	ClinGen TOPMed gnomAD
CA370771915 rs1431362066	1851	P>L		No	ClinGen gnomAD
rs746172574 CA4683580	1852	P>A		No	ClinGen ExAC TOPMed gnomAD
rs746172574 CA4683579	1852	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1158137000 CA370771925	1853	P>Q		No	ClinGen gnomAD
rs1432416179 CA370771930	1854	P>R		No	ClinGen gnomAD
rs1386240852 CA370771928	1854	P>S		No	ClinGen gnomAD
rs1289116082 CA370771934	1855	P>S		No	ClinGen gnomAD
CA4683581 rs138661979	1857	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA370771950 rs1173088937	1857	A>V		No	ClinGen TOPMed
rs769412029 CA4683583	1858	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs747723490 CA370771951	1858	R>W		No	ClinGen ExAC gnomAD
CA370771967 rs1168829325	1860	S>C		No	ClinGen TOPMed
rs772790062 CA4683584	1862	I>T		No	ClinGen ExAC gnomAD
CA370771976 rs1266592678	1862	I>V		No	ClinGen gnomAD
rs944869171 CA174102405	1864	T>N		No	ClinGen TOPMed
CA370771997 rs1258598210	1865	S>Y		No	ClinGen TOPMed
CA370772004 rs1480712452	1866	E>D		No	ClinGen gnomAD
CA370771998 rs1269768654	1866	E>K		No	ClinGen TOPMed gnomAD
CA370771999 rs1269768654	1866	E>Q		No	ClinGen TOPMed gnomAD
rs1254861952 CA370772009	1867	P>L		No	ClinGen TOPMed
CA4683586 rs770732268	1869	S>Y		No	ClinGen ExAC gnomAD

No associated diseases with Q9H7D0

4 regional properties for Q9H7D0

Type	Name	Position	InterPro Accession
repeat	Leucine-rich repeat	66 - 87	IPR001611-1
repeat	Leucine-rich repeat	88 - 109	IPR001611-2
repeat	Leucine-rich repeat	110 - 131	IPR001611-3
repeat	Leucine-rich repeat	132 - 153	IPR001611-4

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell membrane Cell projection, podosome	Associated with the edge of the plasma membrane in Caco-2 intestinal epithelial cells spreading on type IV collagen
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 GO annotations of molecular function

Name	Definition
GTPase activator activity	Binds to and increases the activity of a GTPase, an enzyme that catalyzes the hydrolysis of GTP.
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.

7 GO annotations of biological process

Name	Definition
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
myoblast fusion	A process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
negative regulation of vascular associated smooth muscle contraction	Any process that stops, prevents or reduces the frequency, rate or extent of vascular smooth muscle contraction.
positive regulation of epithelial cell migration	Any process that activates or increases the frequency, rate or extent of epithelial cell migration.
positive regulation of substrate adhesion-dependent cell spreading	Any process that activates or increases the frequency, rate or extent of substrate adhesion-dependent cell spreading.
positive regulation of vascular associated smooth muscle cell migration	Any process that activates or increases the frequency, rate or extent of vascular associated smooth muscle cell migration.
small GTPase mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q92608	DOCK2	Dedicator of cytokinesis protein 2	Homo sapiens (Human)	PR
Q14185	DOCK1	Dedicator of cytokinesis protein 1	Homo sapiens (Human)	PR
Q8CIQ7	Dock3	Dedicator of cytokinesis protein 3	Mus musculus (Mouse)	PR
Q8BUR4	Dock1	Dedicator of cytokinesis protein 1	Mus musculus (Mouse)	PR
Q8C3J5	Dock2	Dedicator of cytokinesis protein 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MARWIPTKRQ	KYGVAIYNYN	ASQDVELSLQ	IGDTVHILEM	YEGWYRGYTL	QNKSKKGIFP
70	80	90	100	110	120
ETYIHLKEAT	VEDLGQHETV	IPGELPLVQE	LTSTLREWAV	IWRKLYVNNK	LTLFRQLQQM
130	140	150	160	170	180
TYSLIEWRSQ	ILSGTLPKDE	LAELKKKVTA	KIDHGNRMLG	LDLVVRDDNG	NILDPDETST
190	200	210	220	230	240
IALFKAHEVA	SKRIEEKIQE	EKSILQNLDL	RGQSIFSTIH	TYGLYVNFKN	FVCNIGEDAE
250	260	270	280	290	300
LFMALYDPDQ	STFISENYLI	RWGSNGMPKE	IEKLNNLQAV	FTDLSSMDLI	RPRVSLVCQI
310	320	330	340	350	360
VRVGHMELKE	GKKHTCGLRR	PFGVAVMDIT	DIIHGKVDDE	EKQHFIPFQQ	IAMETYIRQR
370	380	390	400	410	420
QLIMSPLITS	HVIGENEPLT	SVLNKVIAAK	EVNHKGQGLW	VSLKLLPGDL	TQVQKNFSHL
430	440	450	460	470	480
VDRSTAIARK	MGFPEIILPG	DVRNDIYVTL	IHGEFDKGKK	KTPKNVEVTM	SVHDEEGKLL
490	500	510	520	530	540
EKAIHPGAGY	EGISEYKSVV	YYQVKQPCWY	ETVKVSIAIE	EVTRCHIRFT	FRHRSSQETR
550	560	570	580	590	600
DKSERAFGVA	FVKLMNPDGT	TLQDGRHDLV	VYKGDNKKME	DAKFYLTLPG	TKMEMEEKEL
610	620	630	640	650	660
QASKNLVTFT	PSKDSTKDSF	QIATLICSTK	LTQNVDLLGL	LNWRSNSQNI	KHNLKKLMEV
670	680	690	700	710	720
DGGEIVKFLQ	DTLDALFNIM	MEMSDSETYD	FLVFDALVFI	ISLIGDIKFQ	HFNPVLETYI
730	740	750	760	770	780
YKHFSATLAY	VKLSKVLNFY	VANADDSSKT	ELLFAALKAL	KYLFRFIIQS	RVLYLRFYGQ
790	800	810	820	830	840
SKDGDEFNNS	IRQLFLAFNM	LMDRPLEEAV	KIKGAALKYL	PSIINDVKLV	FDPVELSVLF
850	860	870	880	890	900
CKFIQSIPDN	QLVRQKLNCM	TKIVESTLFR	QSECREVLLP	LLTDQLSGQL	DDNSNKPDHE
910	920	930	940	950	960
ASSQLLSNIL	EVLDRKDVGA	TAVHIQLIME	RLLRRINRTV	IGMNRQSPHI	GSFVACMIAL
970	980	990	1000	1010	1020
LQQMDDSHYS	HYISTFKTRQ	DIIDFLMETF	IMFKDLIGKN	VYAKDWMVMN	MTQNRVFLRA
1030	1040	1050	1060	1070	1080
INQFAEVLTR	FFMDQASFEL	QLWNNYFHLA	VAFLTHESLQ	LETFSQAKRN	KIVKKYGDMR
1090	1100	1110	1120	1130	1140
KEIGFRIRDM	WYNLGPHKIK	FIPSMVGPIL	EVTLTPEVEL	RKATIPIFFD	MMQCEFNFSG
1150	1160	1170	1180	1190	1200
NGNFHMFENE	LITKLDQEVE	GGRGDEQYKV	LLEKLLLEHC	RKHKYLSSSG	EVFALLVSSL
1210	1220	1230	1240	1250	1260
LENLLDYRTI	IMQDESKENR	MSCTVNVLNF	YKEKKREDIY	IRYLYKLRDL	HRDCENYTEA
1270	1280	1290	1300	1310	1320
AYTLLLHAEL	LQWSDKPCVP	HLLQKDSYYV	YTQQELKEKL	YQEIISYFDK	GKMWEKAIKL
1330	1340	1350	1360	1370	1380
SKELAETYES	KVFDYEGLGN	LLKKRASFYE	NIIKAMRPQP	EYFAVGYYGQ	GFPSFLRNKI
1390	1400	1410	1420	1430	1440
FIYRGKEYER	REDFSLRLLT	QFPNAEKMTS	TTPPGEDIKS	SPKQYMQCFT	VKPVMSLPPS
1450	1460	1470	1480	1490	1500
YKDKPVPEQI	LNYYRANEVQ	QFRYSRPFRK	GEKDPDNEFA	TMWIERTTYT	TAYTFPGILK
1510	1520	1530	1540	1550	1560
WFEVKQISTE	EISPLENAIE	TMELTNERIS	NCVQQHAWDR	SLSVHPLSML	LSGIVDPAVM
1570	1580	1590	1600	1610	1620
GGFSNYEKAF	FTEKYLQEHP	EDQEKVELLK	RLIALQMPLL	TEGIRIHGEK	LTEQLKPLHE
1630	1640	1650	1660	1670	1680
RLSSCFRELK	EKVEKHYGVI	TLPPNLTERK	QSRTGSIVLP	YIMSSTLRRL	SITSVTSSVV
1690	1700	1710	1720	1730	1740
STSSNSSDNA	PSRPGSDGSI	LEPLLERRAS	SGARVEDLSL	REENSENRIS	KFKRKDWSLS
1750	1760	1770	1780	1790	1800
KSQVIAEKAP	EPDLMSPTRK	AQRPKSLQLM	DNRLSPFHGS	SPPQSTPLSP	PPLTPKATRT
1810	1820	1830	1840	1850	1860
LSSPSLQTDG	IAATPVPPPP	PPKSKPYEGS	QRNSTELAPP	LPVRREAKAP	PPPPPKARKS

GIPTSEPGSQ