AiPD: Autoinhibited Protein Database

Q96NH3

Gene name	TBC1D32 (BROMI, C6orf170, C6orf171)
Protein name	Protein broad-minded
Names	TBC1 domain family member 32
Species	Homo sapiens (Human)
KEGG Pathway	hsa:221322
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

104-186 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

104-186 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q96NH3

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96NH3-F1	Predicted				AlphaFoldDB

1068 variants for Q96NH3

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA365476858 RCV001252726 rs1583424438	638	S>F	Microcephaly [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1583424407 CA365476855 RCV001252725	639	I>L	Microcephaly [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs186680563 CA3980392 RCV001252914	1189	Q>R	Microcephaly [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
CA365475929 rs1404808287	3	H>P		No	ClinGen TOPMed gnomAD
CA365475933 rs1404808287	3	H>R		No	ClinGen TOPMed gnomAD
CA3981622 rs767530791	3	H>Y		No	ClinGen ExAC gnomAD
CA3981620 rs774493032	6	S>R		No	ClinGen ExAC
CA3981621 rs759797631	6	S>T		No	ClinGen ExAC TOPMed gnomAD
rs372012861 CA146048023	7	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA365475771 rs1161966712	9	Q>H		No	ClinGen gnomAD
TCGA novel	9	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1329698911 CA365475754	10	A>E		No	ClinGen TOPMed
CA3981618 rs747960848	11	M>L		No	ClinGen ExAC TOPMed gnomAD
CA3981617 rs776670394	12	L>P		No	ClinGen ExAC gnomAD
CA365475684 rs1582500494	13	Q>P		No	ClinGen Ensembl
CA365475675 rs1186483069	14	A>T		No	ClinGen gnomAD
rs746983995 CA3981615	15	M>V		No	ClinGen ExAC gnomAD
rs990660797 CA146047994	19	L>S		No	ClinGen TOPMed gnomAD
rs73767253 CA146047999	19	L>V		No	ClinGen Ensembl
CA3981610 rs757906194	21	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1582500197 CA365475470	23	V>G		No	ClinGen Ensembl
CA365475461 rs1582500151	24	K>E		No	ClinGen Ensembl
rs959154561 CA146047984	25	E>D		No	ClinGen Ensembl
CA365475365 rs1051968341	27	I>M		No	ClinGen TOPMed gnomAD
rs1283608621 CA365475347	28	T>K		No	ClinGen gnomAD
rs1283608621 CA365475350	28	T>M		No	ClinGen gnomAD
rs982058670 CA146047960	31	P>L		No	ClinGen Ensembl
CA365475314 rs778438539	32	S>C		No	ClinGen ExAC gnomAD
CA3981607 rs778438539	32	S>F		No	ClinGen ExAC gnomAD
rs1316433693 CA365475310	33	L>P		No	ClinGen TOPMed gnomAD
CA365475311 rs1389814933	33	L>V		No	ClinGen gnomAD
CA365475303 rs1582499829	34	E>A		No	ClinGen Ensembl
TCGA novel	35	C>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	37	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365475267 rs1323209264	39	I>L		No	ClinGen TOPMed gnomAD
rs1404093356 CA365475265	39	I>T		No	ClinGen TOPMed gnomAD
CA146047955 rs367896649	40	L>I		No	ClinGen ESP TOPMed gnomAD
rs967015692 CA146047949	45	E>K		No	ClinGen Ensembl
rs754218862 CA3981605	48	E>D		No	ClinGen ExAC gnomAD
rs1020641078 CA146047944	49	N>S		No	ClinGen gnomAD
rs1230847939 CA365481005	54	E>K		No	ClinGen TOPMed
CA146058650 rs998068567	56	V>E		No	ClinGen Ensembl
rs376165898 CA3981584	56	V>M		No	ClinGen ESP ExAC gnomAD
CA365480969 rs1274018014	59	L>I		No	ClinGen TOPMed
CA3981583 rs778103033	59	L>P		No	ClinGen ExAC TOPMed gnomAD
CA365480960 rs1424190891	60	R>M		No	ClinGen gnomAD
CA365480945 rs1461709684	62	H>R		No	ClinGen TOPMed
rs1249728359 CA365480949	62	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	64	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781554056 CA3981580	64	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3981581 rs753188911	64	G>S		No	ClinGen ExAC gnomAD
CA365480931 rs781554056	64	G>V		No	ClinGen ExAC TOPMed gnomAD
rs751613942 CA3981578	65	N>S		No	ClinGen ExAC gnomAD
rs999579644 CA146058639	66	T>S		No	ClinGen TOPMed
CA365480914 rs1442261150	67	L>W		No	ClinGen gnomAD
rs1279775428 CA365480910	68	G>S		No	ClinGen gnomAD
rs535817936 TCGA novel CA3981575	70	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen 1000Genomes ExAC TOPMed gnomAD
rs535817936 CA3981574	70	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1412207789 CA365480888	71	I>T		No	ClinGen TOPMed
CA146058636 rs1054682616	72	E>G		No	ClinGen Ensembl
CA3981573 rs763925354	73	E>K		No	ClinGen ExAC TOPMed gnomAD
rs566951967 CA3981572	74	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs775461845 CA3981571	75	M>T		No	ClinGen ExAC gnomAD
rs937763764 CA146058630	75	M>V		No	ClinGen Ensembl
rs771929833 CA3981570	76	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3981569 rs759563147	77	K>N		No	ClinGen ExAC
CA3981568 rs376405397	78	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs770492344 CA3981567	78	C>Y		No	ClinGen ExAC gnomAD
rs1470578568 CA365480826	80	S>C		No	ClinGen TOPMed
CA365480818 rs1159860744	81	D>E		No	ClinGen gnomAD
rs1409608687 CA365480821	81	D>G		No	ClinGen gnomAD
CA365480824 rs1470927939	81	D>H		No	ClinGen gnomAD
CA3981564 rs7767455	82	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3981563 VAR_046958 rs7767455	82	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3981565 rs777414033	82	R>W		No	ClinGen ExAC TOPMed gnomAD
CA365480814 rs1410234737	83	N>D		No	ClinGen gnomAD
rs1180405213 CA365480809	83	N>K		No	ClinGen gnomAD
rs1472552505 CA365480805	84	Q>*		No	ClinGen gnomAD
rs1178546026 CA365480800	84	Q>H		No	ClinGen gnomAD
rs1238423089 CA365480754	88	C>*		No	ClinGen TOPMed gnomAD
rs1222614507 CA365480759	88	C>F		No	ClinGen gnomAD
rs1248778136 CA365480764	88	C>R		No	ClinGen gnomAD
CA3981562 rs368973341	89	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365480735 rs1268105734	90	Y>C		No	ClinGen TOPMed gnomAD
CA365480742 rs1463800959	90	Y>H		No	ClinGen gnomAD
CA365480730 rs1242478684	91	D>N		No	ClinGen gnomAD
rs755408441 CA3981561	93	V>I		No	ClinGen ExAC gnomAD
CA3981557 rs377092378	98	T>P		No	ClinGen ESP ExAC gnomAD
rs1315505213 CA365480647	99	K>E		No	ClinGen gnomAD
COSM259844 rs1454410226 CA365480630	100	R>I	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA365480602 rs1319873597	103	E>Q		No	ClinGen gnomAD
CA3981554 rs755885234	104	S>C		No	ClinGen ExAC TOPMed gnomAD
CA365480584 rs755885234	104	S>F		No	ClinGen ExAC TOPMed gnomAD
rs755885234 CA3981555	104	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA365479999 rs1227937886	108	K>T		No	ClinGen gnomAD
CA365479992 rs1309018147	109	E>*		No	ClinGen gnomAD
rs370051847 CA3981528	110	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA365479961 rs1437496460	111	M>I		No	ClinGen TOPMed
CA3981527 rs772688545	111	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1159906190 CA365479955	112	H>N		No	ClinGen TOPMed
TCGA novel	116	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3981525 rs537789219	117	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365479874 rs1408260263	119	I>V		No	ClinGen gnomAD
CA3981522 rs747406997	123	E>D		No	ClinGen ExAC TOPMed gnomAD
CA365479834 rs1463893375	123	E>K		No	ClinGen gnomAD
CA3981521 rs776088477	125	M>T		No	ClinGen ExAC gnomAD
CA146057737 rs1012819155	125	M>V		No	ClinGen TOPMed gnomAD
CA3981520 rs772681470	127	N>K		No	ClinGen ExAC gnomAD
CA365479766 rs746413488	128	K>N		No	ClinGen ExAC gnomAD
CA146057732 rs377267743	128	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA3981518 rs778857756	130	E>V		No	ClinGen ExAC gnomAD
rs749416628 CA3981516	132	D>V		No	ClinGen ExAC gnomAD
CA365479705 rs1311508125	133	E>D		No	ClinGen TOPMed
CA365479711 rs1379118850	133	E>G		No	ClinGen TOPMed gnomAD
CA146057726 rs1035333816	135	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3981515 rs191143380	135	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3981513 rs751379533	138	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1393352392 CA365479594	143	I>T		No	ClinGen TOPMed gnomAD
rs779873544 CA3981512	143	I>V		No	ClinGen ExAC gnomAD
rs79180681 CA146057713	144	Q>K		No	ClinGen Ensembl
CA3981511 rs199778877	144	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750417553 CA3981510	145	K>M		No	ClinGen ExAC gnomAD
TCGA novel	147	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1157561661 CA365479539	148	S>N		No	ClinGen gnomAD
rs1157561661 CA365479538	148	S>T		No	ClinGen gnomAD
CA3981508 rs369594864	149	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3981509 rs369594864	149	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488352407 CA365479527	149	H>R		No	ClinGen TOPMed gnomAD
CA3981507 rs753390780	150	S>G		No	ClinGen ExAC gnomAD
TCGA novel	150	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM39352 rs75540618 CA3981505	152	R>C	large_intestine central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs775961751 CA3981504 COSM159643	152	R>H	large_intestine breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs772636474 CA3981503	153	T>I		No	ClinGen ExAC TOPMed gnomAD
rs760110962 CA3981502	154	D>G		No	ClinGen ExAC gnomAD
CA365479464 rs1264980487	155	N>D		No	ClinGen gnomAD
rs774938386 CA365479458	155	N>I		No	ClinGen ExAC TOPMed gnomAD
CA3981500 rs770852531	155	N>K		No	ClinGen ExAC gnomAD
rs774938386 CA3981501	155	N>S		No	ClinGen ExAC TOPMed gnomAD
rs75747353 COSM39353 CA3981499	157	S>F	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs75747353 CA365479438	157	S>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1072774 CA3981498 rs777810187	158	D>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3981497 rs769982883	159	S>G		No	ClinGen ExAC gnomAD
rs866026243 CA146057689	159	S>N		No	ClinGen Ensembl
rs748409661 CA3981496	160	D>G		No	ClinGen ExAC gnomAD
CA3981495 rs779810260	164	N>H		No	ClinGen ExAC TOPMed gnomAD
CA365479364 rs1395524348	164	N>S		No	ClinGen TOPMed
rs778620332 CA3981475	166	S>G		No	ClinGen ExAC gnomAD
TCGA novel	166	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3981474 rs757184606	168	K>R		No	ClinGen ExAC TOPMed gnomAD
CA146056049 rs757184606	168	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1467130356 CA365478456	170	C>R		No	ClinGen gnomAD
rs1268190973 CA365478449	170	C>Y		No	ClinGen gnomAD
CA365478442 rs1223518398	171	Q>E		No	ClinGen gnomAD
rs755702957 CA146056043	174	L>*		No	ClinGen ExAC TOPMed gnomAD
rs755702957 CA3981471	174	L>S		No	ClinGen ExAC TOPMed gnomAD
CA365478390 rs1272490917	175	Q>L		No	ClinGen gnomAD
CA365478350 rs1301924491	179	D>N		No	ClinGen gnomAD
TCGA novel	180	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365478323 rs1383137990	181	L>M		No	ClinGen TOPMed
rs751932310 CA3981467	183	P>R		No	ClinGen ExAC gnomAD
CA3981468 rs755250906	183	P>T		No	ClinGen ExAC gnomAD
rs1409205681 CA365478260	186	P>L		No	ClinGen gnomAD
rs1163458731 CA365478256	187	K>E		No	ClinGen TOPMed
CA365478246 rs573022154	188	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA3981466 rs573022154	188	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA365477996 rs571743350	190	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777862010 CA3981452	192	E>K		No	ClinGen ExAC
rs1177047549 CA365477976	193	A>G		No	ClinGen gnomAD
rs755647981 CA3981451	195	Q>K		No	ClinGen ExAC gnomAD
rs747686469 CA3981450	195	Q>R		No	ClinGen ExAC gnomAD
rs767746855 CA3981449	196	T>A		No	ClinGen ExAC gnomAD
TCGA novel	196	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754629638 CA3981448	196	T>R		No	ClinGen ExAC gnomAD
CA365477953 rs1208409436	197	L>*		No	ClinGen gnomAD
rs766753507 CA3981445	200	A>T		No	ClinGen ExAC gnomAD
CA3981444 rs370854423	201	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1281455372 CA365477929	201	P>R		No	ClinGen gnomAD
CA3981443 rs370854423	201	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000975125 CA3981442 rs77386127	202	P>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365477895 rs1563339681	207	N>D		No	ClinGen Ensembl
CA3981439 rs184732605	207	N>S		No	ClinGen 1000Genomes ExAC
TCGA novel	208	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365477860 rs1381754910	211	W>L		No	ClinGen gnomAD
CA3981436 rs775585026	212	T>S		No	ClinGen ExAC TOPMed gnomAD
CA365477851 rs1433460722	213	T>A		No	ClinGen TOPMed
CA3981435 rs770697795	213	T>I		No	ClinGen ExAC TOPMed gnomAD
rs201594875 CA3981433	215	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1444470940 CA365477828	216	E>D		No	ClinGen gnomAD
rs374512287 CA3981431	216	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA3981430 rs748138763	218	L>P		No	ClinGen ExAC TOPMed gnomAD
rs868636587 CA146055394	219	T>A		No	ClinGen Ensembl
rs567530456 CA3981427	220	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3981428 rs567530456	220	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547748116 CA3981426	224	D>E		No	ClinGen 1000Genomes ExAC gnomAD
rs989272125 CA146055385	224	D>G		No	ClinGen gnomAD
rs1379225072 CA365477786	224	D>H		No	ClinGen gnomAD
CA3981425 rs758739395	226	D>G		No	ClinGen ExAC gnomAD
rs1246084775 CA365477764	227	P>R		No	ClinGen TOPMed
rs750763632 CA3981424	228	V>M		No	ClinGen ExAC gnomAD
CA3981423 rs779286874	230	S>N		No	ClinGen ExAC gnomAD
CA146054690 rs181574808	232	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3981406 rs181574808	232	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3981405 rs181574808	232	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3981407 rs771592456	232	R>W		No	ClinGen ExAC TOPMed gnomAD
rs757627247 CA3981404	236	F>V		No	ClinGen ExAC gnomAD
rs569425701 CA146054683	238	A>T		No	ClinGen 1000Genomes
CA3981403 rs79040695	242	L>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3981402 rs778178787	243	L>F		No	ClinGen ExAC gnomAD
CA3981401 rs756173006	244	S>F		No	ClinGen ExAC TOPMed gnomAD
CA3981400 rs752700068	245	P>L		No	ClinGen ExAC TOPMed gnomAD
rs752700068 CA146054676	245	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1171742573 CA365477535	248	M>R		No	ClinGen gnomAD
CA3981397 rs200654402	248	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs920895140 CA146054668	249	T>I		No	ClinGen TOPMed gnomAD
rs751888161 CA3981396	251	E>D		No	ClinGen ExAC gnomAD
rs1425173293 CA365477499	251	E>K		No	ClinGen TOPMed gnomAD
rs752163282 CA365477469	252	I>M		No	ClinGen ExAC gnomAD
CA3981394 rs761730450	254	T>A		No	ClinGen ExAC gnomAD
rs1261244409 CA365477348	258	K>R		No	ClinGen gnomAD
CA365477333 rs1324379304	259	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA365477316 rs1237190528	260	L>W		No	ClinGen gnomAD
rs368310250 CA146054611	262	S>T		No	ClinGen ESP TOPMed
rs760514087 CA3981368	266	S>F		No	ClinGen ExAC gnomAD
rs764016337 CA3981369	266	S>P		No	ClinGen ExAC gnomAD
rs1448948146 CA365477209	268	E>G		No	ClinGen TOPMed
CA3981364 rs185568348	270	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs759075480 CA3981363	271	I>L		No	ClinGen ExAC gnomAD
CA365477111 rs1563324046	274	L>F		No	ClinGen Ensembl
CA3981362 rs375331890	275	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA365477059 rs1450957479	277	G>V		No	ClinGen gnomAD
CA3981361 rs770553588	278	V>I		No	ClinGen ExAC gnomAD
rs773445637 CA3981359	279	D>A		No	ClinGen ExAC gnomAD
rs564221990 CA365477040	279	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs564221990 CA3981360	279	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs781725666 CA3981356	280	I>T		No	ClinGen ExAC gnomAD
rs9490157 CA3981357 RCV000888600 VAR_046959	280	I>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1258384791 CA365476954	283	P>S		No	ClinGen gnomAD
CA146054587 rs889563650	287	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3981354 rs193216500 COSM1196576	287	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA365476518 rs1454189457	291	K>M		No	ClinGen TOPMed
TCGA novel	292	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365476483 rs1489906890	292	V>I		No	ClinGen gnomAD
CA3981338 rs200703769	293	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3981337 COSM3410560 rs377465896	293	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA146054554 rs754818367	295	L>R		No	ClinGen Ensembl
rs1269003077 CA365476453	295	L>V		No	ClinGen TOPMed gnomAD
rs572804128 CA3981335	296	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1243995148 CA365476366	302	A>T		No	ClinGen TOPMed
rs940673242 CA146054548	303	P>S		No	ClinGen TOPMed
rs746006397 CA3981332	304	S>F		No	ClinGen ExAC gnomAD
rs1211282201 CA365476332	305	F>C		No	ClinGen gnomAD
rs755813147 CA3981330	305	F>L		No	ClinGen ExAC gnomAD
TCGA novel	306	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3981329 rs752518415	308	R>C	Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3981328 rs781008183	308	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA365476142 rs1258363358	313	Y>H		No	ClinGen TOPMed
rs780955437 CA3981306	314	M>I		No	ClinGen ExAC gnomAD
CA3981305 rs754781417	315	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	316	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs557959718 CA3981304	316	E>G		No	ClinGen 1000Genomes ExAC gnomAD
rs867851423 CA146054404	319	E>K		No	ClinGen Ensembl
CA3981303 rs372865216	320	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1219469730 CA365475995	321	T>S		No	ClinGen gnomAD
CA146054400 rs1007610848	321	T>S		No	ClinGen Ensembl
TCGA novel	321	T>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200183334 CA146054398	323	S>F		No	ClinGen Ensembl
CA3981301 rs544736064	329	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365475876 rs1470389619	329	H>R		No	ClinGen TOPMed
CA146054396 rs954953493	330	N>D		No	ClinGen Ensembl
rs764718810 CA3981300	330	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3981299 rs756920472	331	Q>E		No	ClinGen ExAC gnomAD
CA365475847 rs1333291123	331	Q>R		No	ClinGen TOPMed gnomAD
rs993313182 CA146054387	333	H>R		No	ClinGen gnomAD
rs1030211625 CA146054389	333	H>Y		No	ClinGen gnomAD
rs753557552 CA3981298	334	V>A		No	ClinGen ExAC gnomAD
rs1406128642 CA365475781	335	V>D		No	ClinGen gnomAD
TCGA novel	335	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764483143 CA3981297	336	S>*		No	ClinGen ExAC gnomAD
rs1159204092 CA365475746	337	Q>*		No	ClinGen TOPMed gnomAD
rs776088581 CA3981295 COSM1072770	338	K>N	large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA365475707 rs1182300691	339	I>T		No	ClinGen gnomAD
CA365475696 rs1366812582	340	L>W		No	ClinGen TOPMed
CA3981293 rs368934038	342	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs768043693 CA3981294	342	P>T		No	ClinGen ExAC gnomAD
rs1281789811 CA365475625	344	Y>C		No	ClinGen gnomAD
rs768402360 CA3981288	345	F>I		No	ClinGen ExAC gnomAD
rs1354168022 CA365475586	346	F>S		No	ClinGen gnomAD
CA365475573 rs1311122874	347	A>S		No	ClinGen gnomAD
rs781116575 CA3981286	348	L>S		No	ClinGen ExAC TOPMed gnomAD
CA146054375 rs1002788359	349	V>D		No	ClinGen TOPMed
CA3981285 rs745851336	350	D>N		No	ClinGen ExAC gnomAD
rs745851336 CA3981284	350	D>Y		No	ClinGen ExAC gnomAD
rs1450372175 CA365475509	351	T>A		No	ClinGen gnomAD
rs778428612 CA3981283	351	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1420479138 CA365475495	352	K>E		No	ClinGen gnomAD
rs555955350 CA3981281	352	K>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	353	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365475455 rs1220914471	354	V>G		No	ClinGen TOPMed
CA3981279 rs755877318	354	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3981278 rs199782641	357	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs868224832 CA146054362	357	K>R		No	ClinGen Ensembl
CA3981277 rs369991535 CA3981276	359	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1177041928 CA365475367	359	W>L		No	ClinGen TOPMed
CA365475376 rs1480982834	359	W>R		No	ClinGen TOPMed
TCGA novel	359	W>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365475155 rs1342438087	361	H>Q		No	ClinGen gnomAD
CA3981263 rs368391297	362	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1389357201 CA365475146	363	H>Y		No	ClinGen TOPMed
CA365475120 rs1368774919	366	R>I		No	ClinGen gnomAD
rs755827704 CA3981261	372	L>P		No	ClinGen ExAC gnomAD
rs1465746575 CA365475078	373	L>F		No	ClinGen TOPMed gnomAD
CA365475077 rs1425072444	373	L>H		No	ClinGen TOPMed gnomAD
rs1465746575 CA365475080	373	L>I		No	ClinGen TOPMed gnomAD
CA365475076 rs1425072444	373	L>P		No	ClinGen TOPMed gnomAD
VAR_046960 CA3981260 rs9387944	375	T>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365475063 rs9387944	375	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365475062 rs9387944	375	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3981259 rs781567231	376	K>E		No	ClinGen ExAC gnomAD
CA3981257 rs372200890	377	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs755306173 CA3981258	377	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA146053429 rs755306173	377	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA365475037 rs766895595	379	S>F		No	ClinGen ExAC TOPMed gnomAD
CA3981256 rs766895595	379	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA365475035 rs1223164615	380	L>V		No	ClinGen gnomAD
CA3981241 rs747774753	381	V>I		No	ClinGen ExAC gnomAD
rs751849141 CA3981238	383	T>A		No	ClinGen ExAC gnomAD
CA3981237 rs780438238	383	T>I		No	ClinGen ExAC TOPMed gnomAD
CA365474700 rs1451114135	384	A>G		No	ClinGen TOPMed gnomAD
CA3981236 rs758891682	385	I>F		No	ClinGen ExAC gnomAD
rs765233735 CA3981233	388	C>F		No	ClinGen ExAC gnomAD
rs1186740849 CA365474649	388	C>R		No	ClinGen gnomAD
rs1258286390 CA365474634	389	V>I		No	ClinGen TOPMed gnomAD
COSM450418 rs1488064917 CA365474621	390	Q>*	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs200409965 CA3981231	390	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA365474574 rs1219314470	392	F>S		No	ClinGen gnomAD
CA365474546 rs1357727348	393	E>D		No	ClinGen gnomAD
CA365474532 rs1284196893	394	M>T		No	ClinGen gnomAD
CA365474507 rs754039147	395	C>S		No	ClinGen ExAC TOPMed gnomAD
rs754039147 CA3981230	395	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1239759460 CA365474484	396	K>R		No	ClinGen TOPMed
CA3981229 rs199684963	397	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA365474360 rs1397552049	404	L>*		No	ClinGen gnomAD
CA365474362 rs1397552049	404	L>S		No	ClinGen gnomAD
CA3981226 rs774009815	406	H>D		No	ClinGen ExAC gnomAD
rs1182524077 CA365474328	406	H>L		No	ClinGen TOPMed
rs774009815 CA146052389	406	H>Y		No	ClinGen ExAC gnomAD
CA146052387 rs985658256	408	K>E		No	ClinGen TOPMed
TCGA novel	410	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365474237 rs953029534	411	R>G		No	ClinGen TOPMed
CA365473801 rs1414917889	413	K>E		No	ClinGen gnomAD
CA365473746 rs1293677587	417	F>V		No	ClinGen TOPMed
CA146051854 rs1029506739	418	Y>C		No	ClinGen TOPMed gnomAD
rs762877005 CA3981201	419	Y>H		No	ClinGen ExAC gnomAD
rs773235849 CA3981200	420	L>*		No	ClinGen ExAC TOPMed gnomAD
rs1437862119 CA365473689	421	G>E		No	ClinGen TOPMed
CA3981199 rs765064522	422	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA3981198 rs761851856	423	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1258085333 CA365473638	425	Q>*		No	ClinGen gnomAD
TCGA novel	426	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3981197 rs776002244	426	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA365473610 rs1190778982	427	I>V		No	ClinGen TOPMed
rs74677725 CA3981195 RCV000975124	430	I>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3981194 rs775154354	438	R>G		No	ClinGen ExAC gnomAD
CA365473424 rs1401154432	440	L>F		No	ClinGen gnomAD
rs780383132 CA146051836	441	I>T		No	ClinGen gnomAD
rs1168746663 CA365473391	443	K>E		No	ClinGen TOPMed
rs1412811554 CA365473372	444	Q>P		No	ClinGen TOPMed gnomAD
CA3981191 rs372997464	451	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3981190 rs372997464	451	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1010555917 CA146051833	452	K>E		No	ClinGen Ensembl
rs369009845 CA3981189	452	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA365473269 rs1362360195	452	K>R		No	ClinGen gnomAD
CA3981188 rs777658924	454	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	457	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	458	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	458	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3981186 rs752930659	458	G>S		No	ClinGen ExAC gnomAD
CA3981165 rs577124824	459	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3981166 rs755247543	459	L>W		No	ClinGen ExAC TOPMed gnomAD
CA3981164 rs367923600	461	S>C		No	ClinGen ExAC TOPMed gnomAD
rs1378559589 CA365472820	462	L>I		No	ClinGen gnomAD
CA3981163 rs757104992	462	L>P		No	ClinGen ExAC gnomAD
rs557088263 CA3981162	463	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365472798 rs1304023250	465	L>P		No	ClinGen TOPMed
rs764069843 CA3981161	466	L>F		No	ClinGen ExAC TOPMed gnomAD
CA146049748 rs749631407	467	V>F		No	ClinGen ExAC gnomAD
CA3981160 rs749631407	467	V>I		No	ClinGen ExAC gnomAD
rs1420767893 CA365472787	468	L>I		No	ClinGen TOPMed gnomAD
TCGA novel	469	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1258995885 CA365472772	470	T>A		No	ClinGen gnomAD
CA365472761 rs370027510	471	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1163308962 COSM3721082 CA365472748	473	I>M	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1003987697 CA146049743	473	I>T		No	ClinGen TOPMed
CA3981158 rs767069299	474	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA365472734 rs1337555042	475	Y>*		No	ClinGen gnomAD
TCGA novel	476	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774060292 CA3981157	477	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3981156 rs774060292	477	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1056307867 CA365472721	478	S>C		No	ClinGen TOPMed
CA146049735 rs1056307867	478	S>G		No	ClinGen TOPMed
CA3981155 rs771163450	479	C>W		No	ClinGen ExAC gnomAD
rs1475894036 CA365472702	481	K>Q		No	ClinGen gnomAD
rs1418377476 CA365472686	482	M>I		No	ClinGen TOPMed
rs1260674500 CA365472684	483	T>A		No	ClinGen gnomAD
rs763402182 CA3981154	484	S>*		No	ClinGen ExAC gnomAD
CA365472673 rs1583558586	485	A>P		No	ClinGen Ensembl
CA365472669 rs1156878444	485	A>V		No	ClinGen TOPMed
CA365472668 rs1488500064	486	A>S		No	ClinGen gnomAD
CA365472658 rs1219316562	487	H>P		No	ClinGen TOPMed gnomAD
rs377121755 CA3981153	487	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA3981152 rs140063363	488	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365472654 rs1324793232	488	S>P		No	ClinGen TOPMed
TCGA novel	489	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3981137 rs201652810	489	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365472627 rs1445144796	490	N>S		No	ClinGen gnomAD
CA3981136 rs765758059	492	S>C		No	ClinGen ExAC gnomAD
rs765758059 CA3981135	492	S>F		No	ClinGen ExAC gnomAD
rs762355644 CA3981134	493	P>S		No	ClinGen ExAC TOPMed gnomAD
CA146049303 rs868461147	494	A>P		No	ClinGen Ensembl
TCGA novel	495	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1425541532 CA365472573	498	T>N		No	ClinGen gnomAD
CA3981130 rs747085285	499	E>Q		No	ClinGen ExAC gnomAD
rs1266630462 CA365472556	501	L>P		No	ClinGen TOPMed
TCGA novel	502	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365472553 rs1199405682	502	W>R		No	ClinGen TOPMed gnomAD
rs1481655668 CA365472541	503	I>T		No	ClinGen gnomAD
CA365472536 rs1254487522	504	L>F		No	ClinGen gnomAD
rs79221470 CA3981127	505	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3981128 rs79221470	505	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365472530 rs1313173906	505	S>T		No	ClinGen gnomAD
rs200303171 CA3981126	506	D>V		No	ClinGen ExAC gnomAD
rs755906263 CA3981125	507	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs781131102 CA3981123	509	E>G		No	ClinGen ExAC TOPMed gnomAD
rs751049160 CA3981121	510	C>S		No	ClinGen ExAC gnomAD
CA3981122 rs751049160	510	C>Y		No	ClinGen ExAC gnomAD
rs765875717 CA3981120	511	A>S		No	ClinGen ExAC gnomAD
rs758059813 CA3981119	513	E>V		No	ClinGen ExAC gnomAD
rs137979053 CA3981118	516	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA365472435 rs137979053	516	Y>F		No	ClinGen 1000Genomes ExAC gnomAD
rs762288375 CA3981117	517	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3981116 rs762288375	517	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA365472387 rs1175328751	519	I>T		No	ClinGen gnomAD
CA365472333 rs1379687214	521	I>M		No	ClinGen TOPMed gnomAD
CA3981115 rs201680026	521	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365472331 rs1204103577	522	E>K		No	ClinGen gnomAD
CA3981114 rs764660976	523	T>I		No	ClinGen ExAC
CA365472292 rs1179102070	523	T>S		No	ClinGen gnomAD
rs1420970314 CA365472281	524	L>F		No	ClinGen TOPMed gnomAD
CA3981113 rs761153200	524	L>H		No	ClinGen ExAC TOPMed gnomAD
rs1420970314 CA365472280	524	L>I		No	ClinGen TOPMed gnomAD
CA365472244 rs1305208158	526	Q>R		No	ClinGen TOPMed
rs543310549 CA3981112	527	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs543310549 CA365472225	527	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1318774655 CA365472228	527	P>S		No	ClinGen TOPMed
CA365472172 rs1483721948	529	H>Q		No	ClinGen gnomAD
CA365472192 rs1291158707	529	H>Y		No	ClinGen TOPMed
rs1282709453 CA365472161	530	N>I		No	ClinGen TOPMed gnomAD
rs1282709453 CA365472164	530	N>S		No	ClinGen TOPMed gnomAD
rs569558097 CA3981111	531	L>V		No	ClinGen ExAC TOPMed gnomAD
CA365472120 rs774590000	532	M>R		No	ClinGen ExAC gnomAD
rs774590000 CA3981109	532	M>T		No	ClinGen ExAC gnomAD
rs1269326040 CA365472114	533	K>E		No	ClinGen TOPMed
rs1195843271 CA365470941	537	A>G		No	ClinGen gnomAD
CA3981088 rs202238791	537	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3981087 rs202238791	537	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	538	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	538	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365470912 rs1312916681	540	N>D		No	ClinGen TOPMed
CA365470895 rs1409177701	541	C>G		No	ClinGen TOPMed gnomAD
CA365470872 rs1334941859	543	E>K		No	ClinGen gnomAD
CA365470831 rs1283854461	547	I>L		No	ClinGen TOPMed
TCGA novel	549	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3981082 rs753257342	549	I>V		No	ClinGen ExAC gnomAD
rs1316969250 CA365470796	550	A>T		No	ClinGen gnomAD
rs1177054605 CA365470783	551	G>D		No	ClinGen gnomAD
CA146048819 rs991717579	551	G>S		No	ClinGen TOPMed
rs1270394087 CA365470762	553	L>S		No	ClinGen gnomAD
CA3981081 rs778627862	554	A>T		No	ClinGen ExAC gnomAD
rs1468910078 CA365470669	561	E>D		No	ClinGen TOPMed gnomAD
CA365470671 rs1441489489	561	E>V		No	ClinGen gnomAD
rs753557471 CA3981079	562	G>A		No	ClinGen ExAC TOPMed gnomAD
rs753557471 CA365470661	562	G>E		No	ClinGen ExAC TOPMed gnomAD
CA365470621 rs1248722423	566	L>V		No	ClinGen gnomAD
rs764832559 CA3981077	569	G>A		No	ClinGen ExAC gnomAD
CA146048813 rs764832559	569	G>E		No	ClinGen ExAC gnomAD
CA365470569 rs1477250970	570	A>V		No	ClinGen gnomAD
rs1223464058 CA365470542	572	M>I		No	ClinGen TOPMed gnomAD
TCGA novel	574	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365470525 rs1490213828	574	S>P		No	ClinGen gnomAD
rs753201205 CA3981076	575	S>T		No	ClinGen ExAC gnomAD
rs1470251862 CA365470503	576	E>K		No	ClinGen gnomAD
rs777311700 CA3981060	579	P>S		No	ClinGen ExAC gnomAD
CA3981058 rs755841235	580	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1583425546 CA365477644	582	A>D		No	ClinGen Ensembl
CA3981055 rs755465061	582	A>S		No	ClinGen ExAC TOPMed gnomAD
rs755465061 CA3981056	582	A>T		No	ClinGen ExAC TOPMed gnomAD
rs143181650 CA3981052	584	I>R		No	ClinGen 1000Genomes ExAC gnomAD
rs143181650 CA3981053	584	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3981054 rs752077627	584	I>V		No	ClinGen ExAC gnomAD
rs750598563 CA3981051	585	I>M		No	ClinGen ExAC gnomAD
CA365477596 rs765342712	586	A>D		No	ClinGen ExAC TOPMed gnomAD
CA3981050 rs765342712	586	A>G		No	ClinGen ExAC TOPMed gnomAD
rs762159947 CA3981049	587	Q>E		No	ClinGen ExAC gnomAD
CA146047531 rs1035588513	587	Q>R		No	ClinGen TOPMed
CA3981048 rs775130673	588	F>L		No	ClinGen ExAC TOPMed gnomAD
CA3981047 rs767358318	589	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	591	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1332698114 CA365477540	591	K>R		No	ClinGen TOPMed
CA146047523 rs1022528983	592	L>F		No	ClinGen TOPMed gnomAD
CA365477527 rs1410766577	592	L>H		No	ClinGen TOPMed gnomAD
CA365477510 rs1471515962	594	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770514713 CA3981044	597	I>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	597	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1419331648 CA365477450	598	S>A		No	ClinGen TOPMed
rs7745023 CA365477441	599	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1462497038 CA365477432	599	I>M		No	ClinGen TOPMed
CA3981043 rs7745023 VAR_046961	599	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs12203967 CA365477405	601	S>F		No	ClinGen TOPMed gnomAD
rs12203967 CA146047513	601	S>Y		No	ClinGen TOPMed gnomAD
CA3981042 rs769327826	602	G>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3981041 rs769327826	602	G>V		No	ClinGen ExAC gnomAD
CA3981038 rs755344533	605	M>I		No	ClinGen ExAC gnomAD
rs1442075627 CA365477379	605	M>L		No	ClinGen TOPMed
rs929029310 CA146047495	605	M>T		No	ClinGen Ensembl
CA3981037 rs747477432	607	P>A		No	ClinGen ExAC
CA365477351 rs1226747824	607	P>L		No	ClinGen gnomAD
CA365477327 rs1355648470	609	V>G		No	ClinGen gnomAD
TCGA novel	611	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3981036 rs780564711 COSM3429941	612	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1338946150 CA365477265	614	I>N		No	ClinGen gnomAD
rs918794851 CA146047480	618	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs750463642 CA3981034	618	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757359868 CA3981032	620	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1163292548 CA365477192	620	I>V		No	ClinGen gnomAD
CA3981031 rs754094422	622	S>G		No	ClinGen ExAC gnomAD
CA3981030 rs767380550	622	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	622	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365477132 rs1260558575	623	T>R		No	ClinGen gnomAD
CA3981028 rs774336012	624	C>*		No	ClinGen ExAC gnomAD
rs766389175 CA3981027	625	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1451129588 CA365477087	626	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	627	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1267036022 CA365477038	628	Q>H		No	ClinGen TOPMed gnomAD
rs747692273 CA3981023	630	L>S		No	ClinGen ExAC gnomAD
CA3981022 rs775674341	631	I>V		No	ClinGen ExAC TOPMed gnomAD
rs80160290 CA3981021 RCV000881297	632	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365476909 rs1480802693	635	L>F		No	ClinGen TOPMed
CA365476900 rs1563102783	636	H>P		No	ClinGen Ensembl
rs747354586 CA3981020	639	I>T		No	ClinGen ExAC gnomAD
CA365476829 rs1037546083	640	A>E		No	ClinGen TOPMed gnomAD
rs1037546083 CA146047438	640	A>V		No	ClinGen TOPMed gnomAD
rs758891570 CA3981019	642	A>P		No	ClinGen ExAC TOPMed gnomAD
rs758891570 CA3981018	642	A>S		No	ClinGen ExAC TOPMed gnomAD
rs746395745 CA3981017	643	W>L		No	ClinGen ExAC gnomAD
TCGA novel	643	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1169226678 CA365476757	644	K>R		No	ClinGen gnomAD
CA365476741 rs778788123 CA3981016	645	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	645	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1300711628 CA365476686	646	T>A		No	ClinGen gnomAD
rs553385620 CA3980991	646	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1377895930 CA365476631	651	E>V		No	ClinGen TOPMed
rs1057016517 CA146047160	656	P>S		No	ClinGen TOPMed gnomAD
CA365476584 rs1057016517	656	P>T		No	ClinGen TOPMed gnomAD
CA146047155 rs938603866	657	V>A		No	ClinGen TOPMed gnomAD
CA365476562 rs779929168	658	E>*		No	ClinGen ExAC gnomAD
CA3980988 rs201833154 RCV000880812	658	E>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3980989 rs758248002	658	E>G		No	ClinGen ExAC gnomAD
CA3980990 rs779929168	658	E>Q		No	ClinGen ExAC gnomAD
rs765201929 CA146047146	659	G>R		No	ClinGen ExAC TOPMed gnomAD
rs765201929 CA3980987	659	G>S		No	ClinGen ExAC TOPMed gnomAD
rs954796464 CA146047143	659	G>V		No	ClinGen gnomAD
TCGA novel	659	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3980985 rs753329266	661	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1259996945 CA365476173	666	V>I		No	ClinGen gnomAD
CA3980983 rs760249239	667	S>G		No	ClinGen ExAC gnomAD
rs775152075 CA3980982	669	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1239222557 CA365476092	670	S>Y		No	ClinGen gnomAD
CA3980979 rs368557262	673	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368557262 CA3980980	673	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA365474903 rs1373949539	676	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3980956 rs77089134	676	W>L		No	ClinGen ExAC gnomAD
CA3980955 rs776618381	677	E>G		No	ClinGen ExAC gnomAD
CA365474898 rs776618381	677	E>V		No	ClinGen ExAC gnomAD
CA3980953 rs747206098	678	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	678	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	680	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1275790247 CA365474869	681	L>*		No	ClinGen TOPMed
CA365474867 rs1583360267	681	L>F		No	ClinGen Ensembl
CA365474872 rs1252900561	681	L>V		No	ClinGen gnomAD
TCGA novel	683	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3980951 rs200162387	684	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749171183 CA3980950	685	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA365474824 rs1583360035	688	A>S		No	ClinGen Ensembl
rs1229307946 CA365474816	689	A>S		No	ClinGen TOPMed gnomAD
rs1452423723 CA365474805	691	P>A		No	ClinGen gnomAD
rs1302582365 CA365474801	691	P>L		No	ClinGen TOPMed gnomAD
rs1302582365 CA365474802	691	P>R		No	ClinGen TOPMed gnomAD
rs1452423723 CA365474804	691	P>S		No	ClinGen gnomAD
rs937959368 CA146043624	692	K>*		No	ClinGen Ensembl
rs1261137439	693	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs754601123 CA3980945	693	G>V		No	ClinGen ExAC gnomAD
CA3980944 rs751178222	694	L>S		No	ClinGen ExAC gnomAD
rs763436647 CA3980942	701	G>R		No	ClinGen ExAC gnomAD
COSM309762 CA365474722 rs1194740486	702	A>T	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1377038144 CA365474716	702	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA365474673 rs1254289093	705	E>D		No	ClinGen gnomAD
CA365474665 rs1563044856	706	C>F		No	ClinGen Ensembl
CA365474635 rs1179008562	708	T>I		No	ClinGen TOPMed gnomAD
CA3980941 rs773763981	709	F>I		No	ClinGen ExAC gnomAD
rs372494211 CA3980940	710	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs372494211 CA365474596	710	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs776711519 CA3980938	712	N>D		No	ClinGen ExAC gnomAD
rs927896573 CA146043617	712	N>S		No	ClinGen TOPMed gnomAD
rs768618779 CA3980937 COSM1072759	713	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1341972792 CA365474542 COSM1072758	713	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1299953836 CA365474519	714	Y>*		No	ClinGen TOPMed
CA570207660 rs1441540812	714	Y>*		No	ClinGen gnomAD
CA365474533 rs1277900319	714	Y>H	Variant assessed as Somatic; 4.672e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA365474536 rs1277900319	714	Y>N		No	ClinGen gnomAD
rs1400150186 CA365474529	714	Y>S		No	ClinGen TOPMed
TCGA novel	715	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	717	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA146043515 rs866731917	721	S>I		No	ClinGen Ensembl
TCGA novel	721	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	722	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	724	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365474244 rs758167119	724	K>R		No	ClinGen ExAC TOPMed gnomAD
rs758167119 CA3980925 COSM202649	724	K>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3980924 rs200104119	725	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	725	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3980923 rs201609323	727	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs756030991 CA3980922	728	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs764183037 CA3980920	729	G>A		No	ClinGen ExAC
CA365474176 rs1344015005	729	G>R		No	ClinGen gnomAD
rs998398608 CA146043508	730	V>I		No	ClinGen TOPMed gnomAD
CA365474158 rs1245826991	731	L>S		No	ClinGen gnomAD
rs961576594 CA146043506	732	V>A		No	ClinGen Ensembl
rs1369634812 CA365474138	733	T>I		No	ClinGen TOPMed
CA3980919 rs200603439	734	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA146043502 rs750440790	734	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3980918 rs750440790	734	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs999491334 CA146043500	735	V>E		No	ClinGen TOPMed
CA3980917 rs375692748	736	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3980916 rs199718831	736	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1188468352 CA365474092	738	T>I		No	ClinGen gnomAD
CA3980915 RCV000898955 rs191814118	739	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA365474073 rs1563040924	740	A>V		No	ClinGen Ensembl
CA146043495 rs900326039	741	G>D		No	ClinGen TOPMed gnomAD
rs769581491 CA3980914	741	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3980911 rs200421884	742	G>D	Variant assessed as Somatic; 0.0001396 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA3980913 rs748080205	742	G>S		No	ClinGen ExAC gnomAD
CA3980912 rs200421884	742	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1583355775 CA365474051	743	I>V		No	ClinGen Ensembl
CA3980909 rs779781840	745	L>I		No	ClinGen ExAC gnomAD
CA365474021 rs1294131112	746	K>E		No	ClinGen gnomAD
TCGA novel	746	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365474006 rs1235535205	747	K>*		No	ClinGen gnomAD
rs1235535205 CA365474007	747	K>E		No	ClinGen gnomAD
CA365473997 rs758113999	747	K>N		No	ClinGen ExAC gnomAD
CA365474003 rs1160452236	747	K>R		No	ClinGen TOPMed
CA365473776 rs1459155969	750	F>L		No	ClinGen TOPMed gnomAD
CA146042980 rs944755538	751	I>N		No	ClinGen Ensembl
CA3980888 rs372378065	752	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs778684628 CA3980887	753	E>K		No	ClinGen ExAC gnomAD
CA3980885 rs749610893	755	I>K		No	ClinGen ExAC
CA365473699 rs749610893	755	I>T		No	ClinGen ExAC
rs756971457 CA3980886	755	I>V		No	ClinGen ExAC TOPMed
CA3980884 rs553617432	757	E>Q		No	ClinGen ExAC gnomAD
CA3980883 rs756521076	757	E>V		No	ClinGen ExAC gnomAD
CA3980882 rs753205997	758	L>*		No	ClinGen ExAC gnomAD
rs1453895442 CA365473647	759	W>*		No	ClinGen gnomAD
rs1253661264 CA365473607	762	L>P		No	ClinGen gnomAD
CA3980881 rs767545501	763	E>*		No	ClinGen ExAC gnomAD
CA3980880 rs755074542	764	Y>C		No	ClinGen ExAC
CA3980878 rs766560197	767	D>G		No	ClinGen ExAC gnomAD
CA3980877 rs763304267	768	D>N		No	ClinGen ExAC TOPMed gnomAD
rs200973240 CA3980874	770	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365473473 rs1248030850	772	T>I		No	ClinGen TOPMed gnomAD
rs775585873 CA3980873	774	P>L		No	ClinGen ExAC gnomAD
COSM3410559 CA365473454 rs1234146434	774	P>S	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1387995294 CA365473433	776	T>A		No	ClinGen gnomAD
CA3980872 rs201419425	778	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3980871 rs745336213	779	V>L		No	ClinGen ExAC gnomAD
rs774070072 CA3980870	780	D>V		No	ClinGen ExAC TOPMed
rs200352559 CA146042954	781	P>S		No	ClinGen TOPMed gnomAD
CA365473375 rs200352559	781	P>T		No	ClinGen TOPMed gnomAD
rs748983448 CA3980868	783	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3980865 rs367966058	784	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3980864 rs781649690	784	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA365473316 rs1250090966	785	S>I		No	ClinGen gnomAD
CA365473311 rs1177943280	785	S>R		No	ClinGen TOPMed gnomAD
CA365473306 rs1484256772	786	C>G		No	ClinGen gnomAD
rs755521566 CA3980863	787	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	789	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3980833 rs762503574	799	Y>S		No	ClinGen ExAC TOPMed
rs909430979 CA146041328	800	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3980831 rs537787315	802	I>M		No	ClinGen 1000Genomes ExAC gnomAD
CA365472081 rs1164409091	804	E>G		No	ClinGen gnomAD
CA365472036 rs1212985096	806	V>I		No	ClinGen Ensembl
CA3980829 rs776925179	807	R>K		No	ClinGen ExAC gnomAD
rs1191445220 CA365471995	808	N>S		No	ClinGen TOPMed gnomAD
rs374455744 CA3980828	809	Q>E		No	ClinGen ESP ExAC gnomAD
TCGA novel	810	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs187705659 CA3980827	810	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3980826 rs201397946	811	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs772492859 CA3980825	811	L>R		No	ClinGen ExAC
rs745953529 CA3980824	814	K>E		No	ClinGen ExAC gnomAD
CA3980823 rs778914931	815	T>A		No	ClinGen ExAC TOPMed gnomAD
CA365471833 rs1208667645	818	S>A		No	ClinGen TOPMed
CA3980820 rs754841752	820	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3980818 rs529189059	820	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754841752 CA3980819 COSM1072757	820	R>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3980817 rs565790502	822	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551954369 CA3980816	824	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA365471743 rs1368814747	825	C>F		No	ClinGen gnomAD
rs981916993 CA146041327	826	V>I		No	ClinGen Ensembl
rs764743693 CA3980814	827	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA365469038 rs1179162808	828	D>G		No	ClinGen gnomAD
CA3980795 rs560143926	828	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA365469033 rs1480524147	829	I>V		No	ClinGen gnomAD
rs770566250 CA3980794	831	D>G		No	ClinGen ExAC gnomAD
TCGA novel	831	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA146036088 rs770566250	831	D>V		No	ClinGen ExAC gnomAD
rs763727966 CA3980793	832	R>G		No	ClinGen ExAC gnomAD
rs1448641382 CA365468998	834	I>T		No	ClinGen TOPMed
CA3980791 rs376375094	836	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs760299666 CA3980792	836	L>S		No	ClinGen ExAC gnomAD
rs767776014 CA3980790	837	N>D		No	ClinGen ExAC gnomAD
rs771614305 CA3980787	838	S>C		No	ClinGen ExAC gnomAD
rs771614305 CA3980788	838	S>F		No	ClinGen ExAC gnomAD
rs1267721664 CA365468975	838	S>P		No	ClinGen TOPMed gnomAD
rs1238557215 CA365468952	841	K>N		No	ClinGen gnomAD
CA365468950 rs1351310667	842	I>V		No	ClinGen gnomAD
rs185093433 CA3980785	843	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3980784 rs770128390	843	R>H		No	ClinGen ExAC TOPMed gnomAD
rs185093433 CA3980786	843	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA146036042 rs1054284681	844	S>F		No	ClinGen TOPMed gnomAD
CA365468936 rs1054284681	844	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	847	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779835394 CA3980782	848	Y>F		No	ClinGen ExAC gnomAD
CA365468911 rs748334463	848	Y>H		No	ClinGen ExAC gnomAD
CA3980783 rs748334463	848	Y>N		No	ClinGen ExAC gnomAD
CA365468903 rs1434804006	849	E>*		No	ClinGen TOPMed
rs1426610075 CA365468897	850	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	850	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374803442 CA3980780	852	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3980779 rs778787368	854	F>L		No	ClinGen ExAC gnomAD
CA146024223 rs1045968889	858	D>N		No	ClinGen TOPMed gnomAD
rs769614495 CA3980720	860	I>V		No	ClinGen ExAC gnomAD
rs775944843 CA3980718	862	D>E		No	ClinGen ExAC TOPMed gnomAD
CA3980719 rs748120787	862	D>G		No	ClinGen ExAC gnomAD
CA3980717 rs554522121	864	L>F		No	ClinGen 1000Genomes ExAC gnomAD
COSM202631 rs758169249 CA3980714	868	R>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs758169249 CA3980715	868	R>K		No	ClinGen ExAC gnomAD
rs746218871 CA3980713	869	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3980712 rs779343511	870	H>D		No	ClinGen ExAC gnomAD
CA365468747 rs1178273969	871	V>I		No	ClinGen gnomAD
rs757650575 CA365468740	872	L>F		No	ClinGen ExAC TOPMed gnomAD
CA3980711 rs757650575	872	L>V		No	ClinGen ExAC TOPMed gnomAD
COSM1187144 rs754394746 CA3980710	873	V>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs754394746 CA365468736	873	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1183352436 CA365468724	875	I>V		No	ClinGen TOPMed gnomAD
CA3980709 rs764042251	876	N>S		No	ClinGen ExAC gnomAD
rs752823773 CA3980706	878	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3980708 rs756157694	878	V>I		No	ClinGen ExAC TOPMed
rs759819997 CA3980704	881	P>L		No	ClinGen ExAC gnomAD
rs376860064 CA3980702	884	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA365468667 rs776659632	884	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776659632 COSM1072756 CA3980700	884	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3980701 rs376860064	884	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA146024080 rs991820929	886	L>F		No	ClinGen Ensembl
CA3980699 COSM3941490 RCV000879692 rs112983358	888	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs978204879 CA146024026	889	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	890	L>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3980695 rs745551546	892	E>K		No	ClinGen ExAC gnomAD
CA146024006 rs200717925	893	K>M		No	ClinGen gnomAD
TCGA novel	896	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365468568 rs1264742404	897	P>R		No	ClinGen gnomAD
CA365468555 rs1209085414	899	P>H		No	ClinGen gnomAD
CA365468534 rs1356767019	902	M>K		No	ClinGen gnomAD
rs1277762372 COSM450416 CA365468510	905	S>L	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1439848910 CA365468502	906	Y>H		No	ClinGen TOPMed gnomAD
CA365468484 rs1226135331	907	P>S	Variant assessed as Somatic; 4.652e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1230618769 CA365468448	910	N>D		No	ClinGen gnomAD
rs780298524 CA3980665	912	Y>C		No	ClinGen ExAC gnomAD
rs751628250 CA3980667	912	Y>N		No	ClinGen ExAC gnomAD
rs758602871 CA146023240	913	L>M		No	ClinGen ExAC TOPMed gnomAD
CA3980663 rs753677265	914	S>L		No	ClinGen ExAC gnomAD
CA365468376 rs1317112116	915	D>Y		No	ClinGen gnomAD
CA365468341 rs763998538	917	T>I		No	ClinGen ExAC gnomAD
CA3980662 rs763998538	917	T>R		No	ClinGen ExAC gnomAD
rs1562714311 CA365468316	919	N>S		No	ClinGen Ensembl
rs1391260789 CA365468306	920	A>S		No	ClinGen gnomAD
TCGA novel	921	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150710532 CA365459661	925	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs910099679 CA146002910	926	N>D		No	ClinGen TOPMed gnomAD
CA3980644 rs755944931	926	N>S		No	ClinGen ExAC TOPMed gnomAD
rs752590903 CA3980643	927	D>G		No	ClinGen ExAC gnomAD
rs1048389932 CA146002888	930	K>Q		No	ClinGen TOPMed
rs754938090 CA3980641	935	L>F		No	ClinGen ExAC TOPMed gnomAD
CA365459487 rs918585761	937	I>L		No	ClinGen TOPMed gnomAD
rs918585761 CA146002871	937	I>V		No	ClinGen TOPMed gnomAD
CA3980640 rs371231820	938	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA146002856 rs765820285	939	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3980639 rs765820285	939	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs762544656 CA3980638	940	K>T		No	ClinGen ExAC gnomAD
CA3980637 rs772880893	944	W>L		No	ClinGen ExAC gnomAD
rs1230208795 CA365459312	945	I>V		No	ClinGen TOPMed
rs550998385 CA146002828	947	N>S		No	ClinGen TOPMed gnomAD
rs575043241 CA3980635	952	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA146002805 rs868794523	955	M>I		No	ClinGen Ensembl
CA3980634 rs762140250	956	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1471776037 CA365458939	960	P>L		No	ClinGen gnomAD
rs1188412175 CA365458894	961	D>V		No	ClinGen gnomAD
rs1484951659 CA365458922	961	D>Y		No	ClinGen TOPMed
rs775594656 CA3980630	962	I>M		No	ClinGen ExAC TOPMed gnomAD
rs181607730 CA3980631	962	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3980629 rs772079232	963	I>V		No	ClinGen ExAC gnomAD
CA3980627 rs779259082	965	G>E		No	ClinGen ExAC gnomAD
rs1223141763 CA365458746	966	E>V		No	ClinGen gnomAD
CA146803541 rs1000698328	967	A>G		No	ClinGen Ensembl
CA3980626 rs757613099	967	A>T		No	ClinGen ExAC gnomAD
CA146803539 rs981687256	969	I>T		No	ClinGen TOPMed gnomAD
rs1035978604 CA146803540	969	I>V		No	ClinGen TOPMed
CA365561500 rs1268112416	972	L>F		No	ClinGen Ensembl
rs1479179408 CA365561498	972	L>P		No	ClinGen TOPMed
CA365561456 rs1402842378	978	H>R		No	ClinGen gnomAD
rs1022943830 CA146803538	981	E>*		No	ClinGen TOPMed
CA3980606 rs768367191	982	S>R		No	ClinGen ExAC gnomAD
rs1011686211 CA146803537	984	S>Y		No	ClinGen TOPMed gnomAD
CA146803536 rs893182112	985	E>A		No	ClinGen TOPMed
rs182549460 CA3980605	986	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3980604 rs779832131	987	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs968710749 CA146803534	987	Y>H		No	ClinGen Ensembl
rs779832131 CA365561399	987	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs1322389464 CA365561394	988	F>L		No	ClinGen TOPMed
CA146803533 rs546076493	992	E>*		No	ClinGen TOPMed gnomAD
CA365561369 rs546076493	992	E>K		No	ClinGen TOPMed gnomAD
rs759423143 CA3980601	993	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3980600 rs759423143	993	Y>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	994	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763851253 CA3980598	994	T>I		No	ClinGen ExAC TOPMed gnomAD
CA3980573 rs762919498	995	A>D		No	ClinGen ExAC TOPMed gnomAD
rs760928119 CA3980597	995	A>T		No	ClinGen ExAC gnomAD
CA3980572 rs773398928	996	T>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	997	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA146802352 rs767335733	997	D>Y		No	ClinGen TOPMed gnomAD
rs1369169198 CA365561308	999	N>K		No	ClinGen TOPMed
rs1395573427 CA365561292	1001	K>R		No	ClinGen gnomAD
rs775205468 CA3980569	1002	N>S		No	ClinGen ExAC gnomAD
CA3980568 rs576633832	1003	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1433193861 CA365561267	1003	E>K		No	ClinGen TOPMed gnomAD
rs1321726204 CA365561253	1004	S>G		No	ClinGen gnomAD
rs1562527818 CA365561221	1006	S>L		No	ClinGen Ensembl
rs745705955 CA3980567	1007	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1022502033 CA365561205	1008	V>A		No	ClinGen TOPMed gnomAD
CA146802349 rs1022502033	1008	V>G		No	ClinGen TOPMed gnomAD
rs1424865081 CA365561211	1008	V>M		No	ClinGen gnomAD
CA146802348 rs953562899	1009	Q>*		No	ClinGen Ensembl
CA365561192 rs1249677941	1009	Q>H		No	ClinGen TOPMed
rs774253203 CA3980566	1009	Q>P		No	ClinGen ExAC gnomAD
CA365561166 rs1452269381	1012	G>S		No	ClinGen TOPMed
CA3980564 rs761539336	1012	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1486711306 CA365561149	1013	I>S		No	ClinGen gnomAD
CA365561150 rs1486711306	1013	I>T		No	ClinGen gnomAD
CA3980563 rs201909100	1013	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365561129 rs1263653516	1015	M>V		No	ClinGen gnomAD
CA365561091 rs1244009991	1017	V>A		No	ClinGen gnomAD
CA365560936 rs778599694	1018	R>S		No	ClinGen TOPMed
CA365560926 rs1167937267	1020	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1463209065 CA365560923	1020	G>V		No	ClinGen gnomAD
CA365560917 rs1375498801	1021	K>R		No	ClinGen gnomAD
CA365560911 rs1197984247	1022	F>V		No	ClinGen gnomAD
CA3980537 rs373991419	1025	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA365560865 rs1429260024	1028	D>E		No	ClinGen TOPMed
rs1368629911 CA365560866	1028	D>V		No	ClinGen TOPMed
CA3980535 rs757341774	1029	G>S		No	ClinGen ExAC
CA3980534 rs369614039	1030	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1356541043 CA365560848	1031	E>D		No	ClinGen TOPMed
rs764300555 CA3980533	1031	E>G		No	ClinGen ExAC gnomAD
CA365560833 rs149431059	1033	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365560835 rs376819254	1033	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3980532 rs376819254	1033	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248616746 CA365560827	1034	L>P		No	ClinGen TOPMed
CA3980530 rs766219933	1035	T>I		No	ClinGen ExAC TOPMed gnomAD
rs766219933 CA146802145	1035	T>S		No	ClinGen ExAC TOPMed gnomAD
rs773171737 CA3980528	1036	W>*		No	ClinGen ExAC gnomAD
CA3980529 rs762761578	1036	W>R		No	ClinGen ExAC gnomAD
CA365560813 rs1347739485	1037	V>I		No	ClinGen gnomAD
TCGA novel	1038	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3980526 rs776347418	1040	H>P		No	ClinGen ExAC gnomAD
CA3980525 rs776347418	1040	H>R		No	ClinGen ExAC gnomAD
rs1336806565 CA365560791	1040	H>Y		No	ClinGen gnomAD
rs768356050 CA3980524	1041	C>F		No	ClinGen ExAC TOPMed
CA365560784 rs768356050	1041	C>Y		No	ClinGen ExAC TOPMed
rs746669245 CA3980522	1042	E>K		No	ClinGen ExAC gnomAD
rs746669245 CA365560780	1042	E>Q		No	ClinGen ExAC gnomAD
CA146802144 rs951124843	1044	F>I		No	ClinGen TOPMed
CA3980521 rs780229548	1044	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1445089593 CA365560722	1050	T>A		No	ClinGen TOPMed
rs1469963924 CA365560707	1052	I>T		No	ClinGen gnomAD
CA365560711 rs1431785300	1052	I>V		No	ClinGen gnomAD
rs772514749 CA3980520	1053	K>*		No	ClinGen ExAC gnomAD
rs772514749 CA365560703	1053	K>E		No	ClinGen ExAC gnomAD
CA3980519 rs557939729	1054	S>T		No	ClinGen 1000Genomes ExAC
rs1472227734 CA365560689	1055	S>Y		No	ClinGen gnomAD
rs779465127 CA365560685	1056	L>F		No	ClinGen ExAC TOPMed gnomAD
rs779465127 CA3980518	1056	L>I		No	ClinGen ExAC TOPMed gnomAD
CA3980517 rs757831225 COSM231089	1057	L>F	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3980505 rs760360569	1059	L>R		No	ClinGen ExAC gnomAD
CA365560651 rs1184219344	1060	Q>*		No	ClinGen gnomAD
rs199671235 CA3980503	1061	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1462826124 CA365560644	1061	G>R		No	ClinGen gnomAD
CA146802111 rs1054333876	1062	N>H		No	ClinGen TOPMed
CA146802110 rs746242313	1062	N>S		No	ClinGen ExAC TOPMed gnomAD
CA3980502 rs746242313	1062	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1063	Y>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375947439 CA3980501	1064	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1065	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371460758 CA3980499	1066	H>R		No	ClinGen ESP ExAC gnomAD
CA365560593 rs1338414112	1068	W>C		No	ClinGen TOPMed
rs1246074652 CA365560591	1069	F>L		No	ClinGen gnomAD
rs756157845 CA3980497	1070	V>A		No	ClinGen ExAC gnomAD
rs1384620669 CA365560583	1070	V>L		No	ClinGen gnomAD
CA3980496 rs748226334	1071	S>F		No	ClinGen ExAC TOPMed gnomAD
CA3980491 rs757208624	1075	M>V		No	ClinGen ExAC gnomAD
rs1562519286 CA365560547	1076	I>L		No	ClinGen Ensembl
CA365560544 rs1446507526	1076	I>T		No	ClinGen TOPMed gnomAD
rs528372763 CA146802109 CA3980490	1077	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764164450 CA3980489	1078	L>*		No	ClinGen ExAC gnomAD
rs1197715280 CA365560525	1079	G>*		No	ClinGen TOPMed
rs1197715280 CA365560527	1079	G>R		No	ClinGen TOPMed
TCGA novel	1081	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1082	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219742721 CA365560489	1084	T>A		No	ClinGen gnomAD
CA146802108 rs374536754	1085	F>L		No	ClinGen ESP gnomAD
CA365560482 rs1254519873	1085	F>L		No	ClinGen TOPMed
CA365560470 rs560574202	1086	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760237654 CA3980486	1086	Q>R		No	ClinGen ExAC gnomAD
CA3980484 rs199840167	1087	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365560448 rs1213648784	1088	L>H		No	ClinGen TOPMed gnomAD
rs1408694649 CA365560439	1089	H>L		No	ClinGen TOPMed gnomAD
CA3980482 rs774731973	1090	Q>*		No	ClinGen ExAC gnomAD
CA3980481 rs201382292	1093	R>S		No	ClinGen ExAC gnomAD
CA365560397 rs1344867814	1093	R>T		No	ClinGen gnomAD
rs200575069 CA146802107	1095	L>P		No	ClinGen 1000Genomes
CA146802106 rs999332096	1096	T>S		No	ClinGen TOPMed
CA3980480 rs749695630	1098	A>S		No	ClinGen ExAC TOPMed gnomAD
CA146802105 rs749695630	1098	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1100	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365560303 rs1337653878	1101	W>*		No	ClinGen gnomAD
CA3980478 rs770341437	1102	L>W		No	ClinGen ExAC gnomAD
CA3980477 rs748253784	1103	P>L		No	ClinGen ExAC gnomAD
CA3980476 rs182057696	1104	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755170219 CA3980475	1105	L>P		No	ClinGen ExAC gnomAD
CA3980474 rs373972495	1106	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3980473 rs778807503	1107	I>V		No	ClinGen ExAC
CA3980472 rs757083944	1108	S>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1108	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365558764 rs1480659899	1109	S>N		No	ClinGen gnomAD
CA365558737 rs1162675520	1110	Y>*		No	ClinGen TOPMed
rs1391524681 CA365558732	1111	L>F		No	ClinGen TOPMed
rs747148711 CA3980456	1111	L>R		No	ClinGen ExAC gnomAD
CA3980452 rs777727212	1113	N>D		No	ClinGen ExAC gnomAD
rs777727212 CA3980453	1113	N>H		No	ClinGen ExAC gnomAD
rs1225111133 CA365558703	1113	N>I		No	ClinGen gnomAD
CA3980450 rs752612084	1115	T>A		No	ClinGen ExAC gnomAD
CA365558621 rs1375662511 COSM259840	1119	G>D	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1375662511 CA365558617	1119	G>V		No	ClinGen TOPMed gnomAD
CA3980448 rs754426012	1123	V>I		No	ClinGen ExAC TOPMed gnomAD
CA365558566 rs754426012	1123	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1124	Y>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3980445 rs575799780	1126	C>F		No	ClinGen 1000Genomes ExAC gnomAD
CA365558522 rs1482111312	1126	C>R		No	ClinGen gnomAD
rs750727198 CA3980444	1128	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA365558470 rs1252689142	1129	H>R		No	ClinGen TOPMed gnomAD
CA365558453 rs1283163454	1130	Y>F		No	ClinGen TOPMed
TCGA novel	1130	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365558438 rs1160427319	1131	I>T		No	ClinGen TOPMed gnomAD
rs1017804004 CA146801455	1131	I>V		No	ClinGen TOPMed
rs1421356186 CA365558428	1132	E>*		No	ClinGen gnomAD
CA365558400 rs1271982673	1133	M>I		No	ClinGen TOPMed
rs749267544 CA146801453	1135	L>P		No	ClinGen Ensembl
CA3980443 rs765542061	1137	A>T		No	ClinGen ExAC gnomAD
rs776968575 CA3980441	1138	E>K		No	ClinGen ExAC TOPMed gnomAD
CA365558309 rs1205386375	1139	L>W		No	ClinGen gnomAD
CA365558298 rs1205528627	1140	P>S		No	ClinGen TOPMed
rs202106970 RCV000912957 CA3980440	1142	V>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs950969280 CA146801452	1144	S>*		No	ClinGen gnomAD
rs1259890893 CA365558242	1144	S>A		No	ClinGen gnomAD
rs950969280 CA365558220	1144	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3980439 rs760655363	1147	H>L		No	ClinGen ExAC gnomAD
rs746118796 CA3980436	1148	M>I		No	ClinGen ExAC TOPMed gnomAD
rs772366152 CA3980437	1148	M>V		No	ClinGen ExAC gnomAD
CA3980435 rs777675910	1149	S>F		No	ClinGen ExAC gnomAD
CA365558115 rs1433399173	1152	A>T		No	ClinGen gnomAD
CA365558108 rs1384737979	1152	A>V		No	ClinGen gnomAD
CA365558075 rs1369164391	1155	Q>*		No	ClinGen TOPMed
rs1166972364 CA365558068	1155	Q>H		No	ClinGen TOPMed
CA3980405 rs776487629	1161	I>L		No	ClinGen ExAC gnomAD
CA365557628 rs1339046853	1164	C>Y		No	ClinGen gnomAD
TCGA novel	1166	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746970154 CA3980402	1170	D>E		No	ClinGen ExAC gnomAD
CA365557582 rs1230131624	1170	D>Y		No	ClinGen TOPMed gnomAD
rs994830643 CA146799542	1171	W>*		No	ClinGen TOPMed
rs1282987120 CA365557570	1171	W>C		No	ClinGen gnomAD
CA3980401 rs779498885	1172	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3980400 rs757868336	1176	H>R		No	ClinGen ExAC TOPMed gnomAD
CA365557524 rs1389157171	1178	I>V		No	ClinGen gnomAD
CA146799541 rs897389591	1180	T>A		No	ClinGen TOPMed gnomAD
rs118077502 RCV000964473 CA3980398	1180	T>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1463162821 CA365557507	1181	C>R		No	ClinGen gnomAD
rs764544938 CA3980395	1181	C>Y		No	ClinGen ExAC gnomAD
rs1175370345 CA365557492	1183	F>Y		No	ClinGen gnomAD
CA146799540 rs866848607	1184	L>F		No	ClinGen Ensembl
CA146799539 rs999755951	1186	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3980393 rs753228834	1187	D>N		No	ClinGen ExAC gnomAD
rs1437284313 CA365557447	1190	V>L		No	ClinGen gnomAD
rs377128385 CA3980390	1191	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1164567807 CA365557431	1192	I>M		No	ClinGen TOPMed
rs552597781 CA3980389	1192	I>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365557406 rs1460106292	1196	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA365557399 rs1224501224	1197	F>C		No	ClinGen gnomAD
rs766446129 CA3980388	1197	F>L		No	ClinGen ExAC gnomAD
rs763248088 CA3980387	1199	H>L		No	ClinGen ExAC gnomAD
CA146799538 rs372829056	1200	L>S		No	ClinGen ESP TOPMed gnomAD
CA365557365 rs1328888593	1202	Q>*		No	ClinGen gnomAD
rs1448546265 CA365557350	1204	I>V		No	ClinGen gnomAD
rs1403435593 CA365557341	1205	L>P		No	ClinGen gnomAD
COSM1161558 CA365557337 rs1335822652	1206	Q>*	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
CA365557310 rs1470105093	1209	Q>H		No	ClinGen TOPMed gnomAD
CA365557307 rs1582720105	1210	T>S		No	ClinGen Ensembl
CA365557290 rs1469524884	1212	D>E		No	ClinGen gnomAD
rs1268503144 CA365557293	1212	D>G		No	ClinGen TOPMed
CA146799536 rs746846120	1212	D>N		No	ClinGen ExAC gnomAD
COSM259839 CA3980384 rs746846120	1212	D>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs369359139 CA3980383	1215	V>I		No	ClinGen ESP ExAC gnomAD
rs772052026 CA3980382	1216	F>S		No	ClinGen ExAC gnomAD
CA365557224 rs1562408339	1221	A>T		No	ClinGen Ensembl
rs1385569598 CA365557215	1222	L>P		No	ClinGen TOPMed gnomAD
CA365557214 rs1385569598	1222	L>R		No	ClinGen TOPMed gnomAD
COSM3697479 RCV000963191 CA3980370 rs200000443	1223	H>Y	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1353651641 CA365557191 COSM3429938	1226	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	1226	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365557185 rs1184473233	1227	V>L		No	ClinGen gnomAD
CA146798443 rs1005372622	1229	D>E		No	ClinGen Ensembl
TCGA novel	1229	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs56300302 CA3980365	1232	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365557140 rs1286930246	1233	Y>S		No	ClinGen gnomAD
CA3980362 rs201112310	1234	M>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365557134 rs1356685273	1234	M>V		No	ClinGen gnomAD
rs770444598 CA3980360	1238	E>G		No	ClinGen ExAC gnomAD
CA146798442 rs771876930	1240	N>K		No	ClinGen Ensembl
rs1268273532 CA365557087	1240	N>T		No	ClinGen gnomAD
rs748798523 CA3980359	1242	R>*		No	ClinGen ExAC gnomAD
CA365557070 rs1327000463	1243	T>A		No	ClinGen gnomAD
CA3980357 rs769641525	1248	D>N		No	ClinGen ExAC TOPMed gnomAD
CA365557037 rs1365059128	1248	D>V		No	ClinGen gnomAD
CA3980355 rs564250621	1250	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs141535369 CA365557025	1250	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141535369 CA3980353	1250	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs564250621 CA3980356	1250	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1251	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780461716 CA3980351	1253	R>G		No	ClinGen ExAC gnomAD
CA365557007 rs1265748300	1253	R>K		No	ClinGen TOPMed gnomAD
rs1197920229 CA365556978	1257	T>I		No	ClinGen gnomAD
rs758477548 CA3980350	1258	T>E		No	ClinGen ExAC gnomAD
rs758477548 CA365556974	1258	T>Q		No	ClinGen ExAC gnomAD

No associated diseases with Q96NH3

No regional properties for Q96NH3

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q96NH3

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Cell projection, cilium
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

2 GO annotations of cellular component

Name	Definition
cilium	A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

10 GO annotations of biological process

Name	Definition
determination of left/right symmetry	The establishment of an organism's body plan or part of an organism with respect to the left and right halves. The pattern can either be symmetric, such that the halves are mirror images, or asymmetric where the pattern deviates from this symmetry.
embryonic digit morphogenesis	The process, occurring in the embryo, by which the anatomical structures of the digit are generated and organized. A digit is one of the terminal divisions of an appendage, such as a finger or toe.
heart development	The process whose specific outcome is the progression of the heart over time, from its formation to the mature structure. The heart is a hollow, muscular organ, which, by contracting rhythmically, keeps up the circulation of the blood.
kidney development	The process whose specific outcome is the progression of the kidney over time, from its formation to the mature structure. The kidney is an organ that filters the blood and/or excretes the end products of body metabolism in the form of urine.
lens development in camera-type eye	The process whose specific outcome is the progression of the lens over time, from its formation to the mature structure. The lens is a transparent structure in the eye through which light is focused onto the retina. An example of this process is found in Mus musculus.
non-motile cilium assembly	The aggregation, arrangement and bonding together of a set of components to form a non-motile cilium.
protein localization to cilium	A process in which a protein is transported to, or maintained in, a location within a cilium.
retinal pigment epithelium development	The progression of the retinal pigment epithelium over time, from its initial formation to the mature structure. The retinal pigment epithelium is the melanin-containing layer of cells between the retina and the choroid that absorbs scattered and reflected light and removes waste products produced by the photoreceptor cells.
roof of mouth development	The biological process whose specific outcome is the progression of the roof of the mouth from an initial condition to its mature state. This process begins with the formation of the structure and ends with the mature structure. The roof of the mouth is the partition that separates the nasal and oral cavities.
smoothened signaling pathway involved in dorsal/ventral neural tube patterning	The series of molecular signals generated as a consequence of activation of the transmembrane protein Smoothened contributing to the dorsal/ventral pattern of the neural tube.

No homologous proteins in AiPD

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

10	20	30	40	50	60
MAHFSSEDQA	MLQAMLRRLF	QSVKEKITGA	PSLECAEEIL	LHLEETDENF	HNYEFVKYLR
70	80	90	100	110	120
QHIGNTLGSM	IEEEMEKCTS	DRNQGEECGY	DTVVQQVTKR	TQESKEYKEM	MHYLKNIMIA
130	140	150	160	170	180
VVESMINKFE	EDETRNQERQ	KKIQKEKSHS	YRTDNCSDSD	SSLNQSYKFC	QGKLQLILDQ
190	200	210	220	230	240
LDPGQPKEVR	YEALQTLCSA	PPSDVLNCEN	WTTLCEKLTV	SLSDPDPVFS	DRILKFCAQT
250	260	270	280	290	300
FLLSPLHMTK	EIYTSLAKYL	ESYFLSRENH	IPTLSAGVDI	TNPNMTRLLK	KVRLLNEYQK
310	320	330	340	350	360
EAPSFWIRHP	EKYMEEIVES	TLSLLTVKHN	QSHVVSQKIL	DPIYFFALVD	TKAVWFKKWM
370	380	390	400	410	420
HAHYSRTTVL	RLLETKYKSL	VTTAIQQCVQ	YFEMCKTRKA	DETLGHSKHC	RNKQKTFYYL
430	440	450	460	470	480
GQELQYIYFI	HSLCLLGRLL	IYKQGRKLFP	IKLKNKKGLV	SLIDLLVLFT	QLIYYSPSCP
490	500	510	520	530	540
KMTSAAHSEN	YSPASMVTEV	LWILSDQKEC	AVECLYNNIV	IETLLQPIHN	LMKGNEASPN
550	560	570	580	590	600
CSETALIHIA	GILARIASVE	EGLILLLYGA	NMNSSEESPT	GAHIIAQFSK	KLLDEDISIF
610	620	630	640	650	660
SGSEMLPVVK	GAFISVCRHI	YSTCEGLQVL	ITYNLHESIA	KAWKKTSLLS	ERIPTPVEGS
670	680	690	700	710	720
DSVSSVSQES	QNIMAWEDNL	LDDLLHFAAT	PKGLLLLQRT	GAINECVTFI	FNRYAKKLQV
730	740	750	760	770	780
SRHKKFGYGV	LVTRVASTAA	GGIALKKSGF	INELITELWS	NLEYGRDDVR	VTHPRTTPVD
790	800	810	820	830	840
PIDRSCQKSF	LALVNLLSYP	AIYELVRNQD	LPNKTEYSLR	EVPTCVIDII	DRLIILNSEA
850	860	870	880	890	900
KIRSLFNYEQ	SHIFGLRDFI	IDGLSVERNH	VLVRINLVGG	PLERILPPRL	LEKSDNPYPW
910	920	930	940	950	960
PMFSSYPLPN	CYLSDITRNA	GIKQDNDLDK	LLLCLKISDK	QTEWIENCQR	QFCKMMKAKP
970	980	990	1000	1010	1020
DIISGEALIE	LLEKFVLHLT	ESPSECYFPS	VEYTATDANV	KNESLSSVQQ	LGIKMTVRYG
1030	1040	1050	1060	1070	1080
KFLSLLKDGA	ENDLTWVLKH	CERFLKQQQT	SIKSSLLCLQ	GNYAGHDWFV	SSLFMIMLGD
1090	1100	1110	1120	1130	1140
KEKTFQFLHQ	FSRLLTSAFL	WLPRLHISSY	LPNDTVESGI	HPVYFCSTHY	IEMLLKAELP
1150	1160	1170	1180	1190	1200
LVFSAFHMSG	FAPSQICLQW	ITQCFWNYLD	WIEICHYIAT	CVFLGPDYQV	YICIAVFKHL
1210	1220	1230	1240	1250
QQDILQHTQT	QDLQVFLKEE	ALHGFRVSDY	FEYMEILEQN	YRTVLLRDMR	NIRLQST