AiPD: Autoinhibited Protein Database

Q5VZ66

Gene name	JAKMIP3 (C10orf14, C10orf39, JAMIP3, NECC2)
Protein name	Janus kinase and microtubule-interacting protein 3
Names	Neuroendocrine long coiled-coil protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:282973
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

6-90 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

6-90 (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 Q5VZ66

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q5VZ66-F1	Predicted				AlphaFoldDB

730 variants for Q5VZ66

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA5750921 rs780777526	2	S>F		No	ClinGen ExAC TOPMed gnomAD
CA378745040 rs1438957951	2	S>P		No	ClinGen gnomAD
rs372275166 CA5750922	3	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA378745049 rs1372714350	3	K>R		No	ClinGen gnomAD
rs1330471949 CA378745056	4	R>S		No	ClinGen gnomAD
CA5750923 rs755866881	5	G>S		No	ClinGen ExAC gnomAD
rs749302804 CA5750925	6	M>K		No	ClinGen ExAC TOPMed gnomAD
rs77653558 CA216682690	6	M>V		No	ClinGen Ensembl
CA378745071 rs1221872352	7	S>G		No	ClinGen gnomAD
CA5750926 rs768454996	9	R>G		No	ClinGen ExAC TOPMed gnomAD
rs753848756 CA5750927	9	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA378745086 rs768454996	9	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1180954651 CA378745091	10	A>S		No	ClinGen TOPMed
rs1252422680 CA378745094	10	A>V		No	ClinGen gnomAD
CA378745096 rs1481949629	11	K>E		No	ClinGen TOPMed
rs1419766592 CA378745105	12	G>E		No	ClinGen gnomAD
CA378745103 rs940892992	12	G>R		No	ClinGen TOPMed gnomAD
CA216682692 rs940892992	12	G>W		No	ClinGen TOPMed gnomAD
rs771299481 CA5750929	13	D>E		No	ClinGen ExAC gnomAD
CA5750928 rs747045263	13	D>N		No	ClinGen ExAC
TCGA novel	13	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378745128 rs1353969039	16	E>K		No	ClinGen gnomAD
rs1589821259 CA378745136	17	A>T		No	ClinGen Ensembl
CA378745141 rs1460499706	17	A>V		No	ClinGen TOPMed gnomAD
rs1351623108 CA378745143	18	L>V		No	ClinGen gnomAD
rs200640026 CA5750934	19	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765693147 CA216682694	19	A>S		No	ClinGen ExAC TOPMed gnomAD
rs765693147 CA5750933	19	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200640026 CA5750935	19	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756701841 CA5750939	20	A>G		No	ClinGen ExAC TOPMed gnomAD
CA5750937 rs751095579	20	A>T		No	ClinGen ExAC TOPMed gnomAD
rs756701841 CA5750938	20	A>V		No	ClinGen ExAC TOPMed gnomAD
rs755706630 CA5750942	23	A>E		No	ClinGen ExAC TOPMed gnomAD
CA5750941 rs755706630	23	A>V		No	ClinGen ExAC TOPMed gnomAD
COSM1346841 rs1185753745 CA378745186	26	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	29	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5750946 rs375491238	29	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA378745215 rs1427017583	30	A>V		No	ClinGen gnomAD
rs776839956 CA378745231	33	T>A		No	ClinGen ExAC gnomAD
rs776839956 CA5750948	33	T>S		No	ClinGen ExAC gnomAD
rs891691272 CA216682696	34	D>N		No	ClinGen TOPMed gnomAD
CA378745252 rs1449185464	35	I>L		No	ClinGen gnomAD
rs11146177 CA378745283	36	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA216682697 rs1021408672	38	E>K		No	ClinGen TOPMed
CA378745345 CA378745347 rs1346551896	40	Q>H		No	ClinGen gnomAD
rs763181847 CA5750952	41	Q>*		No	ClinGen ExAC
rs774769898 CA378745369	42	E>A		No	ClinGen ExAC TOPMed gnomAD
CA5750953 rs764601335	42	E>Q		No	ClinGen ExAC gnomAD
rs774769898 CA5750954	42	E>V		No	ClinGen ExAC TOPMed gnomAD
rs762299520 CA5750955	44	S>N		No	ClinGen ExAC gnomAD
CA5750956 rs767069355	45	K>T		No	ClinGen ExAC gnomAD
rs1208301366 CA378746042	46	V>I		No	ClinGen gnomAD
CA378746050 rs1292054200	47	S>C		No	ClinGen gnomAD
CA5750982 rs752511214	51	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5750983 rs371348426	51	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1473889029 CA378746082	52	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA378746094 rs1322491479	53	K>R		No	ClinGen TOPMed
CA378746107 rs1183342117	55	Q>*		No	ClinGen gnomAD
rs867161908 CA216685275	58	R>Q		No	ClinGen TOPMed
COSM1211247 CA5750985 rs750533811	58	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5750986 rs756084381	60	V>G		No	ClinGen ExAC TOPMed gnomAD
rs780173989 CA5750988	61	R>C		No	ClinGen ExAC TOPMed gnomAD
rs780173989 CA5750987	61	R>G		No	ClinGen ExAC TOPMed gnomAD
rs199726287 CA5750989	61	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA216685282 rs1013416975	62	E>K		No	ClinGen gnomAD
rs748470939 CA5750991	64	E>G		No	ClinGen ExAC gnomAD
CA5750993 rs377405834	66	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	68	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1410518923 CA378746194	68	T>N		No	ClinGen gnomAD
CA216685288 rs370393227	69	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs770407014 CA378746198	69	A>S		No	ClinGen ExAC TOPMed gnomAD
rs770407014 CA5750995	69	A>T	Variant assessed as Somatic; 9.282e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs370393227 CA5750996	69	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1589852325 CA378746204	70	V>G		No	ClinGen Ensembl
rs1206514201 CA378746214	72	L>V		No	ClinGen TOPMed gnomAD
CA378746224 rs1299965004	73	T>M		No	ClinGen TOPMed
rs1299965004 CA378746223	73	T>R		No	ClinGen TOPMed
CA378746231 rs1312612878	74	E>D		No	ClinGen gnomAD
rs1422406752 CA378746225	74	E>K		No	ClinGen gnomAD
TCGA novel	76	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5750999 rs775450865	77	T>I		No	ClinGen ExAC gnomAD
rs574033707 CA5751001	81	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1388298055 CA378746284	82	E>G		No	ClinGen TOPMed
rs1430275249 CA378746293	83	K>T		No	ClinGen gnomAD
CA378746301 rs1400030806	84	M>I		No	ClinGen gnomAD
rs751521815 CA5751002	84	M>V		No	ClinGen ExAC gnomAD
TCGA novel	87	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1334636271 CA378746329	88	Q>R		No	ClinGen gnomAD
CA5751004 COSM683971 rs374779116	91	R>C	lung Variant assessed as Somatic; 4.641e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5751005 rs753880520	91	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378746350 rs1450633585	92	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs367618615 COSM916318 CA5751006	93	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA378746373 rs1280219496	96	R>Q		No	ClinGen TOPMed gnomAD
CA5751009 rs758623280	96	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378746385 rs1479270229	98	H>Y		No	ClinGen gnomAD
CA216685305 rs990367724	100	A>V		No	ClinGen Ensembl
CA378746416 rs1257307204	102	L>P		No	ClinGen gnomAD
rs778187502 CA5751010	104	R>M		No	ClinGen ExAC gnomAD
CA216685309 rs867229121	105	V>A		No	ClinGen Ensembl
rs1206036618 CA378746442	107	K>Q		No	ClinGen TOPMed
rs199768813 CA216685310	107	K>R		No	ClinGen gnomAD
rs1589852655 CA378746453	108	I>T		No	ClinGen Ensembl
rs747520782 CA5751011	109	K>E		No	ClinGen ExAC gnomAD
rs1467582013 CA378746485	112	E>D		No	ClinGen gnomAD
rs772360908 CA5751013	112	E>K		No	ClinGen ExAC TOPMed gnomAD
CA378746491 rs1589852698	113	N>T		No	ClinGen Ensembl
CA5751014 rs373833963	115	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA216685314 rs1029094173	115	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA378746511 rs1383985330	117	Q>E		No	ClinGen gnomAD
CA5751015 rs542760197	118	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1318817540 CA378746522	118	A>V		No	ClinGen gnomAD
CA378746535 rs1310890394	121	S>G		No	ClinGen gnomAD
rs1236086724 CA378746541	121	S>R		No	ClinGen gnomAD
rs372347107 CA5751019	122	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs987535619 CA216685322	123	L>P		No	ClinGen TOPMed
rs375429968 CA216685323	124	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs761693157 CA5751020 COSM1168694	124	R>H	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs375429968 CA378746551	124	R>S		No	ClinGen ESP TOPMed gnomAD
rs767446488 CA5751022	125	D>G		No	ClinGen ExAC TOPMed gnomAD
rs767446488 CA5751021	125	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	125	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1434773988 CA378746569	127	G>D		No	ClinGen gnomAD
rs752983229 CA5751025	127	G>S		No	ClinGen ExAC TOPMed gnomAD
CA378746573 rs1390114238	128	P>S		No	ClinGen gnomAD
CA5751029 rs757728403	129	E>G		No	ClinGen ExAC gnomAD
rs747360916 CA5751028	129	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378746581 rs757728403	129	E>V		No	ClinGen ExAC gnomAD
CA378746589 rs1309967545	130	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5751031 rs371619151	130	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs769498280 CA5751032	131	V>F		No	ClinGen ExAC gnomAD
CA216685337 CA5751036 rs372132098	134	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216685336 rs372132098	134	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5751038 rs772009063	135	L>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	138	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765358533 CA5751041	139	A>T		No	ClinGen ExAC gnomAD
CA378746645 rs1212692425	140	K>R		No	ClinGen gnomAD
CA378746657 rs1341396804	142	E>K		No	ClinGen TOPMed gnomAD
CA5751043 rs752743833	145	K>R		No	ClinGen ExAC gnomAD
CA5751045 rs565537154	146	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA378746687 rs565537154	146	G>W		No	ClinGen 1000Genomes ExAC gnomAD
CA216685346 rs1046201269	147	F>L		No	ClinGen Ensembl
CA378746719 TCGA novel rs1589853229	148	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA5751047 rs757577685	148	E>K		No	ClinGen ExAC TOPMed gnomAD
CA378746790 rs1412455941	153	K>E		No	ClinGen gnomAD
rs373128130 CA5751048	153	K>R		No	ClinGen ESP ExAC gnomAD
rs376695053 CA5751050	160	E>K		No	ClinGen ESP ExAC gnomAD
CA378746929 rs748789156	163	G>D		No	ClinGen ExAC gnomAD
CA378746927 rs1414399904	163	G>S		No	ClinGen TOPMed
rs748789156 CA5751052	163	G>V		No	ClinGen ExAC gnomAD
CA5751054 rs778567934	164	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378746957 rs1001581323 CA216685356	166	R>S		No	ClinGen TOPMed gnomAD
rs1310093618 CA378746958	167	Q>K		No	ClinGen gnomAD
CA216685359 rs1016145065	168	V>A		No	ClinGen TOPMed gnomAD
rs374511964 CA5751057	168	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	169	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5751059 rs770817262	170	E>K		No	ClinGen ExAC gnomAD
COSM261475 rs1207238379 CA378746990	171	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs371280434 CA5751062	173	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs371280434 CA5751061	173	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	175	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs377151206 CA5751065	176	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5751064 rs146722402	176	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1165488740 CA378747029	178	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs780655388 CA5751068	179	D>G		No	ClinGen ExAC gnomAD
CA378747030 rs1428322845	179	D>N		No	ClinGen gnomAD
rs753298946 CA5751069	181	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5751071 rs778281162	184	A>E		No	ClinGen ExAC TOPMed gnomAD
rs754442102 CA5751070	184	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5751074 rs777576448	187	R>C		No	ClinGen ExAC gnomAD
rs746758289 CA378747086	187	R>H		No	ClinGen ExAC gnomAD
rs746758289 CA5751075	187	R>L		No	ClinGen ExAC gnomAD
rs770870551 CA5751076	188	S>N		No	ClinGen ExAC gnomAD
rs776567704 CA378747094	188	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5751078 rs745792121	189	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378747103 rs1238992289	190	Y>C		No	ClinGen gnomAD
rs976673045 CA216685375	190	Y>H		No	ClinGen gnomAD
CA378747109 rs1473181992	191	H>Y		No	ClinGen TOPMed
CA378747141 rs1182681080	195	E>V		No	ClinGen gnomAD
CA5751080 rs774277319	196	E>A		No	ClinGen ExAC gnomAD
rs1391324875 CA378747151	197	I>L		No	ClinGen gnomAD
rs1391324875 CA378747152	197	I>V		No	ClinGen gnomAD
rs762161821 CA378747162	198	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5751081 rs762161821	198	T>N		No	ClinGen ExAC TOPMed gnomAD
CA5751082 rs767803760	199	R>C		No	ClinGen ExAC gnomAD
CA5751083 rs529801344	199	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	199	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378747178 rs1291595046	201	K>R		No	ClinGen TOPMed
rs761060134 CA5751084	203	E>Q		No	ClinGen ExAC
CA216685381 rs546754312	204	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM168621 rs754433822 CA5751086	205	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA378747213 rs1344132664	206	R>Q		No	ClinGen TOPMed gnomAD
rs1297774209 CA378747212	206	R>W		No	ClinGen gnomAD
CA5751089 TCGA novel rs752109215	207	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
CA5751090 rs758070446	208	I>F		No	ClinGen ExAC gnomAD
CA5751091 rs777349746	209	R>C		No	ClinGen ExAC gnomAD
rs746809250 CA5751092	209	R>H		No	ClinGen ExAC TOPMed gnomAD
CA216695859 rs756877113	212	M>L		No	ClinGen ExAC TOPMed gnomAD
CA216695863 rs752727056	212	M>T		No	ClinGen Ensembl
CA5751124 rs756877113	212	M>V		No	ClinGen ExAC TOPMed gnomAD
CA378747417 rs1490639321	213	E>V		No	ClinGen gnomAD
CA216695869 rs372381756	215	I>T		No	ClinGen ESP TOPMed
rs1250016161 CA378747437	216	K>*		No	ClinGen gnomAD
rs1484221303 CA378747438	216	K>T		No	ClinGen gnomAD
rs546411210 CA5751126	217	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1367513602 CA378747447	217	F>L		No	ClinGen gnomAD
rs546411210 CA216695877	217	F>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5751127 rs562976642	219	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA378747461 rs1351661136	219	D>V		No	ClinGen TOPMed
TCGA novel	220	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378747467 rs1164433562	220	R>T		No	ClinGen gnomAD
rs1385340890 CA378747477	222	V>I		No	ClinGen gnomAD
CA5751128 rs138207963	224	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs936668518 CA216695886	225	L>M		No	ClinGen TOPMed
rs1333343747 CA378747502	226	E>*		No	ClinGen gnomAD
rs1333343747 CA378747500	226	E>K		No	ClinGen gnomAD
rs748245231 CA5751130	227	R>K		No	ClinGen ExAC gnomAD
CA5751131 rs772347775	228	E>*		No	ClinGen ExAC gnomAD
rs1360295971 CA378747519	228	E>D		No	ClinGen gnomAD
rs181241201 CA5751132	228	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1172739150 CA378747528	230	G>R		No	ClinGen TOPMed
rs747284531 CA378747537	231	V>A		No	ClinGen ExAC gnomAD
rs747284531 CA5751133	231	V>G		No	ClinGen ExAC gnomAD
CA378747533 rs1478017750	231	V>I		No	ClinGen TOPMed
rs777075866 CA5751135	233	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1196738553 CA378747550	233	A>V		No	ClinGen gnomAD
rs367972899 CA5751137	234	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA378747558 rs1189231911	235	H>Y		No	ClinGen gnomAD
CA378747568 rs1166238298	236	A>G		No	ClinGen gnomAD
rs1448330584 CA378747566	236	A>T		No	ClinGen gnomAD
rs1187864138 CA378747572	237	Q>*		No	ClinGen Ensembl
CA378747587 rs1391944052	239	L>P		No	ClinGen TOPMed gnomAD
rs747390918 CA216695920	239	L>V		No	ClinGen Ensembl
rs776041914 CA5751138	240	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	242	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763434204 CA5751139	244	E>D		No	ClinGen ExAC gnomAD
CA378747623 rs1399823206	244	E>G		No	ClinGen gnomAD
CA5751140 rs763639941	248	E>D		No	ClinGen ExAC TOPMed gnomAD
rs372194857 CA216695941	249	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs372194857 CA5751141	249	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5751142 rs200612398	254	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs767032145 CA5751143	254	R>Q		No	ClinGen ExAC gnomAD
rs1228824017 COSM169066 CA378747691	255	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5751145 rs755800890	257	D>G		No	ClinGen ExAC gnomAD
CA378747700 rs1343274196	257	D>H		No	ClinGen TOPMed gnomAD
CA378747699 rs1343274196	257	D>N		No	ClinGen TOPMed gnomAD
CA378747708 rs1464215102	258	R>Q		No	ClinGen gnomAD
rs779992728 CA5751146	258	R>W		No	ClinGen ExAC TOPMed gnomAD
CA378747713 rs1589895523	259	H>P		No	ClinGen Ensembl
CA5751148 rs754944917	260	P>A		No	ClinGen ExAC TOPMed gnomAD
CA5751149 rs374372503	260	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378747719 rs754944917	260	P>S		No	ClinGen ExAC TOPMed gnomAD
rs866344452 CA216695954	262	S>N		No	ClinGen Ensembl
CA5751151 rs771196879	263	P>L		No	ClinGen ExAC gnomAD
CA378747736 rs1375894036	263	P>S		No	ClinGen gnomAD
rs527256670 CA5751155	265	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770112586 CA5751154	265	R>W		No	ClinGen ExAC TOPMed gnomAD
CA378747750 rs1364212766	266	E>K		No	ClinGen gnomAD
rs763487279 CA5751156	267	L>I		No	ClinGen ExAC gnomAD
CA378747765 rs1301161735	268	P>S		No	ClinGen gnomAD
rs769107994 CA5751157	269	H>N		No	ClinGen ExAC gnomAD
CA378747779 rs1235887672	270	A>G		No	ClinGen gnomAD
rs951767115 CA216695996	270	A>T		No	ClinGen TOPMed
CA378747778 rs1235887672	270	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1284334726 CA378747783	271	A>S		No	ClinGen TOPMed gnomAD
rs1284334726 CA378747781	271	A>T		No	ClinGen TOPMed gnomAD
rs1327976741 CA378747790	272	G>D		No	ClinGen gnomAD
TCGA novel	273	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773877735 CA5751158	273	A>V		No	ClinGen ExAC gnomAD
rs376769665 CA5751160	275	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378747805 rs1452015788	275	D>H		No	ClinGen TOPMed
CA5751161 rs750112337	276	A>T		No	ClinGen ExAC gnomAD
CA5751162 rs558332394	280	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1472365358 CA378747845	281	G>R		No	ClinGen gnomAD
rs1157179206 CA378747862	283	P>L		No	ClinGen TOPMed gnomAD
CA378747857 rs1564937599	283	P>S		No	ClinGen Ensembl
rs77020739 CA216696931	284	E>*		No	ClinGen Ensembl
rs1254379331 CA378747909	288	D>V		No	ClinGen gnomAD
rs375632294 CA216696935	289	E>A		No	ClinGen ESP TOPMed gnomAD
rs1390093428 CA378747932	291	D>V		No	ClinGen gnomAD
rs758331901 CA5751188	293	R>Q	Variant assessed as Somatic; 0.000232 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1024147537 CA216696946	293	R>W		No	ClinGen TOPMed gnomAD
CA378747946 COSM123822 rs1355503004	294	R>C	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs767530782 CA5751189	294	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs750472478 CA5751190 COSM537914	296	Q>H	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5751191 rs756346167	297	L>P		No	ClinGen ExAC TOPMed gnomAD
rs780195434 CA5751192	300	A>T		No	ClinGen ExAC gnomAD
rs1350223468 CA378747988	300	A>V		No	ClinGen TOPMed
rs1564939835 CA378747991	301	E>*		No	ClinGen Ensembl
rs199927405 CA216696975	303	S>N		No	ClinGen Ensembl
TCGA novel	303	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1273401007 COSM3414827 CA378748016	304	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1564939891 CA378748033	307	R>C		No	ClinGen Ensembl
rs748653505 CA5751196	307	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1033733968 CA216696987	308	K>R		No	ClinGen Ensembl
CA216696988 rs773128579	310	E>D		No	ClinGen gnomAD
CA5751198 rs772629838	310	E>G		No	ClinGen ExAC gnomAD
CA5751199 rs746479483	312	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5751200 rs202023395	312	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs202023395 CA5751201	312	R>P		No	ClinGen 1000Genomes ExAC gnomAD
CA378748071 rs2814182	313	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs542645419 CA5751203	314	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1433062439 CA378748088	316	L>P		No	ClinGen TOPMed
CA5751205 rs762827445	317	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1319249232 CA378748095	318	E>K		No	ClinGen gnomAD
CA5751208 rs201097707	319	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378748122 rs1432337561	321	N>S		No	ClinGen gnomAD
rs777986393 CA5751234	326	R>C		No	ClinGen ExAC TOPMed gnomAD
rs200001447 CA5751235	326	R>H		No	ClinGen ExAC TOPMed gnomAD
CA378748259 rs777986393	326	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5751236 rs141077930	327	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372427816 CA378748311	333	Q>H		No	ClinGen ESP TOPMed gnomAD
CA378748334 rs1340699768	336	P>L		No	ClinGen TOPMed gnomAD
CA378748329 rs1294575617	336	P>T		No	ClinGen gnomAD
TCGA novel	342	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM916320 rs762758891 CA5751238	343	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs769340245 CA5751239	343	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762758891 CA216697591	343	R>S		No	ClinGen ExAC TOPMed gnomAD
rs936967410 CA216697604	344	L>I		No	ClinGen TOPMed gnomAD
CA5751240 rs779686490	345	S>I		No	ClinGen ExAC TOPMed gnomAD
CA378748388 rs779686490	345	S>N		No	ClinGen ExAC TOPMed gnomAD
CA5751241 rs766118756	346	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs908104354 CA216697610	346	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1589904330 CA378748400	347	K>R		No	ClinGen Ensembl
CA5751242 rs768557044	348	N>S		No	ClinGen ExAC gnomAD
CA216697624 rs199529006	349	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5751245 rs199529006	349	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5751244 rs199529006	349	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776715999 CA5751246	350	D>G		No	ClinGen ExAC gnomAD
rs1458114853 CA378748431	352	S>T		No	ClinGen TOPMed
rs759603919 CA5751247	353	H>D		No	ClinGen ExAC gnomAD
CA216697641 rs769285311	353	H>R		No	ClinGen gnomAD
rs759603919 CA5751248	353	H>Y		No	ClinGen ExAC gnomAD
rs753021225 CA5751249	355	L>S		No	ClinGen ExAC gnomAD
rs763063160 CA5751250 COSM3375422	356	R>C	Variant assessed as Somatic; 0.0 impact. pancreas urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5751251 rs764557390	356	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5751252 rs369595261	357	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs757858529 CA5751253	357	R>Q		No	ClinGen ExAC gnomAD
CA378748460 rs1452347890	358	M>V		No	ClinGen gnomAD
rs1228338036 CA378748477	360	N>D		No	ClinGen gnomAD
COSM1211246 rs1249934751 CA378748512	364	F>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs768076215 CA5751254	367	Q>R		No	ClinGen ExAC gnomAD
CA5751255 rs749953933	370	I>M		No	ClinGen ExAC gnomAD
rs372734785 CA5751256	371	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs772618186 CA5751291	373	R>S		No	ClinGen ExAC gnomAD
CA5751293 rs773420827	375	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1488610290 CA378748623	379	I>V		No	ClinGen TOPMed
CA5751295 rs199828277	380	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371392395 CA5751294	380	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA378748644 rs1269863836	382	P>L		No	ClinGen gnomAD
CA378748646 rs1418736155	383	S>G		No	ClinGen gnomAD
CA5751296 rs753403677	388	L>F		No	ClinGen ExAC gnomAD
rs1228570856 CA378748687	389	D>N		No	ClinGen TOPMed
rs1454411115 CA378748704	391	S>G		No	ClinGen gnomAD
rs1307348650 CA378748708	391	S>N		No	ClinGen TOPMed
rs1004311478 CA216698266	392	Q>R		No	ClinGen Ensembl
rs750605332 CA216698270	393	D>G		No	ClinGen gnomAD
rs1016069275 CA5751298	395	R>K		No	ClinGen TOPMed
CA216698272 rs1016069275	395	R>T		No	ClinGen TOPMed
CA378748752 rs1357363751	398	D>N		No	ClinGen TOPMed gnomAD
CA216698277 rs371025401	399	F>I		No	ClinGen ESP TOPMed gnomAD
CA216698273 rs371025401	399	F>V		No	ClinGen ESP TOPMed gnomAD
TCGA novel	401	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1389339967 CA378748782	402	L>F		No	ClinGen gnomAD
rs1389339967 CA378748783	402	L>V		No	ClinGen gnomAD
rs1169218875 CA378748790	403	Q>P		No	ClinGen TOPMed
rs201149274 CA5751301	404	I>T		No	ClinGen ExAC gnomAD
CA216698296 rs992865170	406	E>K		No	ClinGen gnomAD
rs547833056 CA5751303	407	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5751304 rs751262268	408	Q>K		No	ClinGen ExAC gnomAD
CA378748838 rs1266450135	410	L>F		No	ClinGen TOPMed gnomAD
CA378748837 rs1266450135	410	L>V		No	ClinGen TOPMed gnomAD
CA378748843 rs1196616831	411	I>L		No	ClinGen TOPMed
CA661830442 rs1433368923	411	I>R		No	ClinGen TOPMed
rs757229264 CA5751305	411	I>T		No	ClinGen ExAC gnomAD
CA378748855 rs75996870	412	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780921331 CA378748849	412	D>H		No	ClinGen ExAC TOPMed gnomAD
rs780921331 CA5751306	412	D>N		No	ClinGen ExAC TOPMed gnomAD
rs768911626 CA5751308	413	E>K		No	ClinGen ExAC gnomAD
CA5751311 rs748423042	415	S>F		No	ClinGen ExAC gnomAD
CA5751312 rs772388290	416	K>N		No	ClinGen ExAC TOPMed gnomAD
CA5751335 rs746404301	418	L>P		No	ClinGen ExAC gnomAD
CA378749110 rs1261539816	419	E>A		No	ClinGen gnomAD
CA5751336 rs202061912	419	E>Q		No	ClinGen ExAC gnomAD
rs763651749 CA5751339	421	A>T		No	ClinGen ExAC TOPMed gnomAD
CA216698456 rs943352446	422	G>C		No	ClinGen TOPMed gnomAD
CA378749126 COSM259128 rs943352446	422	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA5751341 rs761502256	423	Y>H		No	ClinGen ExAC gnomAD
rs575506415 CA5751342	424	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1022981415 CA378749157	426	S>R		No	ClinGen TOPMed
rs1173788597 CA378749155	426	S>T		No	ClinGen gnomAD
rs1431051199 CA378749159	427	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs780372542 CA5751371	430	R>Q		No	ClinGen ExAC gnomAD
rs756523934 CA5751370	430	R>W		No	ClinGen ExAC TOPMed
CA378749214 rs1470869928	433	L>P		No	ClinGen gnomAD
TCGA novel	433	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	434	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1403531311 COSM1285629 CA378749235	436	F>Y	autonomic_ganglia [Cosmic]	No	ClinGen cosmic curated gnomAD
rs375069186 CA5751373	437	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs372342663 CA5751372	437	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA216699140 rs981114106	443	M>T		No	ClinGen TOPMed
CA5751374 rs368366945	443	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5751375 rs747640595	444	A>T		No	ClinGen ExAC TOPMed gnomAD
CA378749292 rs1409207052	445	K>*		No	ClinGen gnomAD
CA5751376 rs771631537	446	L>F		No	ClinGen ExAC TOPMed gnomAD
rs771631537 CA5751377	446	L>I		No	ClinGen ExAC TOPMed gnomAD
CA5751378 rs372013380	447	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs367725920 CA5751422	449	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1256096380 CA378749733	449	P>T		No	ClinGen gnomAD
CA216701137 rs1042712829	455	F>S		No	ClinGen TOPMed
rs766445517 CA5751429	456	F>S		No	ClinGen ExAC TOPMed gnomAD
rs766445517 CA5751428	456	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs368231959 CA5751431	459	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5751435 rs752106852	460	E>D		No	ClinGen ExAC gnomAD
rs768374048 CA5751433	460	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5751434 rs768374048	460	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	461	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1420622022 CA378749819	462	A>V		No	ClinGen gnomAD
CA216701166 rs1009183234	467	D>N		No	ClinGen gnomAD
rs745571804 CA5751438	468	G>S		No	ClinGen ExAC gnomAD
rs755679984 CA5751439	468	G>V		No	ClinGen ExAC gnomAD
CA378749861 rs1262420637	469	S>F		No	ClinGen gnomAD
rs1354336355 CA378749864	470	S>P		No	ClinGen gnomAD
CA5751442 rs749027078	471	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5751443 rs768588936	473	Y>S		No	ClinGen ExAC gnomAD
rs1399476772 CA378749901	476	D>N		No	ClinGen TOPMed
rs1564951094 CA378749917	478	T>A		No	ClinGen Ensembl
rs372190425 COSM3396996 CA5751445	478	T>M	Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed
rs1468927798 CA378749933	480	Q>L		No	ClinGen TOPMed
rs1468927798 CA378749934	480	Q>R		No	ClinGen TOPMed
rs759834774 CA5751448	482	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1179754838 CA378749943	482	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5751452 rs764540181	485	P>L		No	ClinGen ExAC TOPMed
TCGA novel	485	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749851146 CA5751456	487	D>G		No	ClinGen ExAC TOPMed gnomAD
CA5751455 rs374337157	487	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA378749988 rs1293735200	488	D>E		No	ClinGen gnomAD
VAR_054016 rs11592585 CA5751488	493	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs753541726 CA5751489	494	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5751492 rs752441563	496	E>K		No	ClinGen ExAC gnomAD
CA5751493 rs370199633	497	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs923560323 CA216702070	498	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA216702078 rs374475319	499	E>G		No	ClinGen ESP TOPMed gnomAD
rs376915260 CA216702087	502	F>L		No	ClinGen ESP gnomAD
rs1046064988 CA216702093	503	R>Q		No	ClinGen TOPMed
rs374251347 CA216702091	503	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA378750416 rs768948020	507	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5751499 rs768948020	507	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1264946510 CA378750447	509	Y>C		No	ClinGen TOPMed
rs1322589544 CA378750466	511	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1036546728 CA216702100	513	Q>H		No	ClinGen gnomAD
rs1196377430 CA378750495	514	R>C		No	ClinGen TOPMed gnomAD
COSM3375423 CA378750496 rs1263372644	514	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
CA378750521 rs373788324	516	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs747271149 COSM3375424 CA216702109	517	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA378750555 rs1426621497	520	Q>*		No	ClinGen gnomAD
CA378750561 rs1414592039	521	E>K		No	ClinGen gnomAD
rs1414592039 CA378750563	521	E>Q		No	ClinGen gnomAD
rs1398665752 CA378750579	522	Q>R		No	ClinGen TOPMed
CA378750588 rs772483760	523	V>F		No	ClinGen ExAC TOPMed gnomAD
CA378750586 rs772483760	523	V>I		No	ClinGen ExAC TOPMed gnomAD
rs772483760 CA5751502	523	V>L		No	ClinGen ExAC TOPMed gnomAD
rs773653963 CA378750606	525	G>A		No	ClinGen ExAC TOPMed gnomAD
CA5751503 rs773653963	525	G>E		No	ClinGen ExAC TOPMed gnomAD
rs368099428 CA216702113	525	G>W		No	ClinGen ESP gnomAD
CA5751504 rs145834847	526	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5751508 rs764815598	529	A>S		No	ClinGen ExAC TOPMed gnomAD
COSM123823 rs764815598 CA378750626	529	A>T	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1219184611 CA378750638	530	E>D		No	ClinGen gnomAD
rs1287228433 CA378750641	531	R>Q		No	ClinGen gnomAD
rs1490299686 CA378750651	532	E>D		No	ClinGen gnomAD
CA216704364 rs200950786	535	T>I		No	ClinGen 1000Genomes
rs1589940605 CA378750678	535	T>P		No	ClinGen Ensembl
rs373222736 CA5751546	536	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1198800294 CA378750685	536	R>H		No	ClinGen gnomAD
CA378750713 rs1189302656	540	Q>R		No	ClinGen gnomAD
rs184195749 CA5751549	542	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs746349217 CA5751550	543	V>A		No	ClinGen ExAC TOPMed gnomAD
CA5751552 rs370911193	546	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs375900771 CA5751551	546	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs370911193 CA216704379	546	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA378750765 rs374576124	548	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
COSM537913 rs374576124 CA5751553	548	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5751557 rs200136856	549	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761765135 COSM1346845 CA5751556	549	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs750436324 CA5751558	551	E>G		No	ClinGen ExAC gnomAD
CA5751559 rs760658976	552	D>E		No	ClinGen ExAC gnomAD
CA378750811 rs1341997902	556	A>T		No	ClinGen gnomAD
rs752777936 CA5751561	557	L>V		No	ClinGen ExAC TOPMed gnomAD
rs777987452 CA5751563	558	A>T		No	ClinGen ExAC gnomAD
rs776445753 CA5751564	558	A>V		No	ClinGen ExAC TOPMed gnomAD
CA378750931 rs1387942905	563	D>G		No	ClinGen gnomAD
rs557044847 CA216704576	564	M>I		No	ClinGen TOPMed gnomAD
CA5751588 rs143832937	564	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5751587 rs750727252	564	M>V		No	ClinGen ExAC TOPMed gnomAD
CA378750964 rs1311438265	566	W>*		No	ClinGen gnomAD
CA216704588 rs868255163	568	E>*		No	ClinGen Ensembl
rs865971683 CA216704608	570	K>N		No	ClinGen Ensembl
rs1376705680 CA378751055	574	Y>N		No	ClinGen TOPMed
rs778256713 CA5751592	575	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768264283 CA5751591	575	R>W	Variant assessed as Somatic; 0.0001121 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747835538 CA5751593	576	R>K		No	ClinGen ExAC gnomAD
CA5751594 rs771802082	578	Q>R		No	ClinGen ExAC gnomAD
CA378751127 rs1382769738	581	V>L		No	ClinGen gnomAD
rs1250551208 CA378751143	582	E>A		No	ClinGen TOPMed
rs368625157 CA5751614	586	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5751615 rs770812165	587	M>T		No	ClinGen ExAC TOPMed gnomAD
rs138739966 CA5751616	589	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5751618 rs377157993	592	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs377157993 CA378751551	592	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs529604289 CA5751619	593	R>G		No	ClinGen ExAC TOPMed gnomAD
rs368038825 CA5751622	593	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368038825 CA5751621	593	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs529604289 CA5751620 COSM3414828	593	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs371971797 CA5751624	595	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA378751587 rs2818384	596	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378751582 rs1173861309	596	H>R		No	ClinGen gnomAD
CA378751579 rs1564962514	596	H>Y		No	ClinGen Ensembl
rs1466308733 CA378751595	597	E>G		No	ClinGen gnomAD
CA378751589 rs1396794303 COSM204348	597	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1589949134 CA378751605	598	V>G		No	ClinGen Ensembl
CA378751601 rs1297378402	598	V>L		No	ClinGen gnomAD
CA378751610 rs1398346267	599	Q>E		No	ClinGen gnomAD
rs1280385686 CA378751618	599	Q>R		No	ClinGen gnomAD
CA5751628 rs753255617	601	A>T		No	ClinGen ExAC gnomAD
rs758042511 CA5751629	602	R>K		No	ClinGen ExAC gnomAD
rs781050644 CA5751633	609	E>D		No	ClinGen ExAC gnomAD
rs1330938000 CA378751709	610	F>L		No	ClinGen gnomAD
rs1589949230 CA378751704	610	F>V		No	ClinGen Ensembl
rs982695468 CA216706269	612	I>T		No	ClinGen Ensembl
TCGA novel	614	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1459055514 CA378751775	618	R>S		No	ClinGen TOPMed gnomAD
rs763565342 COSM1703253 CA5751663	619	E>K	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs752099403 CA5751665	621	K>N		No	ClinGen ExAC gnomAD
CA5751670 rs139137842	624	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139137842 CA5751671	624	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1013203530 CA216707450	625	I>V		No	ClinGen TOPMed
rs754914333 CA5751673	628	H>R		No	ClinGen ExAC gnomAD
CA378751836 rs1484631440	628	H>Y		No	ClinGen TOPMed
CA216707465 rs750081893	630	T>A		No	ClinGen Ensembl
rs778783965 CA5751674	630	T>M		No	ClinGen ExAC TOPMed gnomAD
CA5751677 rs781303731	631	P>A		No	ClinGen ExAC gnomAD
rs1340230440 CA378751859	631	P>L		No	ClinGen gnomAD
rs746127068 CA5751678	632	F>V		No	ClinGen ExAC gnomAD
rs758071759 CA5751680	633	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5751683 rs774769095	635	G>A		No	ClinGen ExAC gnomAD
rs774769095 CA378751882	635	G>E		No	ClinGen ExAC gnomAD
CA5751682 rs201739314	635	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1196282809 CA378751897	637	S>N		No	ClinGen gnomAD
CA378751892 rs1381821282	637	S>R		No	ClinGen TOPMed
rs1277902926 CA378751899	637	S>R		No	ClinGen TOPMed gnomAD
rs1001816751 CA216707515	638	P>S		No	ClinGen TOPMed gnomAD
CA378751943 rs1476463090	644	E>K		No	ClinGen TOPMed gnomAD
CA378751941 rs1476463090	644	E>Q		No	ClinGen TOPMed gnomAD
CA378751946 rs1168989925	644	E>V		No	ClinGen gnomAD
rs1413063933 CA378751955	646	E>K		No	ClinGen TOPMed gnomAD
CA5751687 rs760335018	646	E>V		No	ClinGen ExAC TOPMed
CA378751968 rs1315216326	648	V>M		No	ClinGen gnomAD
CA5751689 rs373056876	649	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1157247692 CA378751996	650	D>G		No	ClinGen TOPMed gnomAD
rs909558937 CA216711489	651	I>V		No	ClinGen TOPMed
rs117391524 CA5751735	654	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117391524 CA378752021	654	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117391524 CA5751734	654	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1442556022 CA378752022	655	E>*		No	ClinGen TOPMed gnomAD
rs1442556022 CA378752023	655	E>K		No	ClinGen TOPMed gnomAD
rs1376079181 CA378752033	656	L>P		No	ClinGen gnomAD
CA378752038 rs1317339987	657	M>K		No	ClinGen TOPMed gnomAD
rs1308922036 CA378752037	657	M>L		No	ClinGen gnomAD
CA378752039 rs1317339987	657	M>T		No	ClinGen TOPMed gnomAD
CA5751740 rs376306525	659	K>T		No	ClinGen ESP ExAC gnomAD
CA378752059 rs1265141776	660	L>M		No	ClinGen TOPMed gnomAD
CA378752060 rs1265141776	660	L>V		No	ClinGen TOPMed gnomAD
CA378752070 rs146017132	661	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs1327152187 CA378752065	661	D>H		No	ClinGen TOPMed
rs548667947 CA5751743	665	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA216711552 rs377482724	666	N>D		No	ClinGen TOPMed
TCGA novel	666	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747548875	667	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA378752105 rs199769239	667	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199769239 CA5751746	667	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs145337969 CA5751777	668	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1589965393 CA378752384	668	N>T		No	ClinGen Ensembl
rs139790761 CA5751779	671	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5751778 rs139790761	671	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	672	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1261825895 CA378752435	673	E>Q		No	ClinGen TOPMed
rs764237496 CA5751781	674	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs751764262 CA5751782	676	V>G		No	ClinGen ExAC TOPMed gnomAD
CA216713939 rs368527879	677	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs368527879 CA5751783	677	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA378752492 rs1290739799	678	I>V		No	ClinGen gnomAD
rs1362797935 CA378752519	680	A>T		No	ClinGen gnomAD
TCGA novel	681	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1050319995 CA216713945	681	R>K		No	ClinGen TOPMed gnomAD
rs1235488104 CA378752545	682	T>I		No	ClinGen gnomAD
CA378752553 rs1385689450	683	V>L		No	ClinGen TOPMed
rs146195956 CA378752565	684	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs748739701 CA5751788	685	T>N		No	ClinGen ExAC gnomAD
CA5751789 rs201747630	686	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778766566 CA5751790	687	A>T		No	ClinGen ExAC gnomAD
rs746991217 CA5751794	688	E>K	Variant assessed as Somatic; 4.743e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1279708161 CA378752884	691	L>F		No	ClinGen gnomAD
CA378752891 rs1589967725	692	Q>P		No	ClinGen Ensembl
rs772117843 CA5751819	694	I>F		No	ClinGen ExAC gnomAD
rs139189013 CA5751820	695	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA378752923 rs1334969492	696	E>D		No	ClinGen gnomAD
TCGA novel	696	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378752926 rs1386716270	697	T>A		No	ClinGen TOPMed
rs1197918549 CA378752930	697	T>I		No	ClinGen TOPMed gnomAD
rs1197918549 CA378752928	697	T>K		No	ClinGen TOPMed gnomAD
rs1197918549 CA378752929	697	T>R		No	ClinGen TOPMed gnomAD
CA5751821 rs188032292	698	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378752939 rs1206349041	699	A>S		No	ClinGen TOPMed
rs142581576 CA5751822	699	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5751825 rs368190407	700	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA378752944 rs1475023357	700	A>S		No	ClinGen gnomAD
CA5751824 rs368190407	700	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751198172 CA5751829	703	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs777360645 CA5751828	703	R>W		No	ClinGen ExAC TOPMed gnomAD
rs757039698 CA5751830	705	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1383950156 CA378752987	707	D>Y		No	ClinGen TOPMed
rs1330005653 CA378752998	709	E>K		No	ClinGen gnomAD
CA5751833 rs150051450	710	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs570433609 CA216714502	710	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376023011 CA378753014	711	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs376023011 CA5751836	711	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5751835 rs748242503	711	E>K	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1259716108 CA378753043	713	E>D		No	ClinGen gnomAD
CA5751860 rs770273396	713	E>Q		No	ClinGen ExAC gnomAD
CA378753079 rs1448874005	718	Q>L		No	ClinGen gnomAD
CA5751862 rs763473804	720	G>D		No	ClinGen ExAC gnomAD
CA378753090 rs145409897	720	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5751861 rs145409897	720	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs773850884 CA5751864	724	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750062250 CA5751867	728	Y>C		No	ClinGen ExAC gnomAD
CA378753151 rs1400856200	729	R>Q		No	ClinGen gnomAD
rs755951582 CA5751868	729	R>W		No	ClinGen ExAC TOPMed gnomAD
CA216714565 rs560247075	731	Q>R		No	ClinGen 1000Genomes TOPMed
CA216714572 rs753751992	732	A>S		No	ClinGen ExAC gnomAD
CA5751870 rs753751992	732	A>T		No	ClinGen ExAC gnomAD
CA378753170 rs1442774836	732	A>V		No	ClinGen gnomAD
CA216714581 rs199888194	737	N>H		No	ClinGen TOPMed
TCGA novel	741	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378754195 rs1460235121	744	E>K		No	ClinGen gnomAD
CA378754221 rs1446832015	746	M>I		No	ClinGen TOPMed
CA378754218 rs1396998832	746	M>T		No	ClinGen gnomAD
rs750693542 CA378754262	750	A>G		No	ClinGen ExAC gnomAD
TCGA novel	750	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750693542 CA5751894	750	A>V		No	ClinGen ExAC gnomAD
CA216720981 rs757544861	752	Q>K		No	ClinGen Ensembl
rs780283814 CA5751896	752	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA378754293 rs1383293210	754	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1408703229 CA378754305	755	A>S		No	ClinGen TOPMed
CA378754312 rs1376082074	756	G>A		No	ClinGen TOPMed
CA5751899 rs779522385	756	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1590003933 CA378754319	757	A>V		No	ClinGen Ensembl
CA378754324 rs1254965947	758	K>R		No	ClinGen gnomAD
CA378754334 rs1188073492	760	A>T		No	ClinGen gnomAD
CA5751901 rs771592271	761	E>K		No	ClinGen ExAC gnomAD
CA5751903 rs760324366	762	L>R		No	ClinGen ExAC gnomAD
CA5751902 rs772668322	762	L>V		No	ClinGen ExAC gnomAD
rs566586775 CA216721046	764	S>P		No	ClinGen gnomAD
rs1416652731 CA378754375	766	E>D		No	ClinGen gnomAD
rs1361417229 CA378754379	767	E>G		No	ClinGen gnomAD
CA5751905 rs776132744	767	E>K		No	ClinGen ExAC gnomAD
rs142668761 CA5751907	768	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5751909 rs146353018	768	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs146353018 CA5751908	768	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1349639492 CA378754389	769	E>G		No	ClinGen gnomAD
rs147886594 CA5751910	769	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1259608810 CA378754398	770	K>N		No	ClinGen gnomAD
rs767713577 CA5751911	770	K>R		No	ClinGen ExAC gnomAD
rs370317405 CA216721094	771	L>F		No	ClinGen ESP TOPMed gnomAD
rs1590004237 CA378754420	774	A>S		No	ClinGen Ensembl
rs546924738 CA5751913	774	A>V		No	ClinGen ExAC TOPMed gnomAD
rs753977860 CA5751915	775	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA378754443 rs1436789763	777	Q>H		No	ClinGen gnomAD
rs1342729521 CA378754440	777	Q>P		No	ClinGen TOPMed
rs1177126858 CA378754446	778	W>R		No	ClinGen gnomAD
CA216721110 rs974380685	780	R>C		No	ClinGen TOPMed
rs376017609 CA5751916	780	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs376017609 CA378754465	780	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1160728264 CA378754473	781	Q>H		No	ClinGen TOPMed
CA378754483 rs1366587192	783	M>T		No	ClinGen TOPMed gnomAD
CA5751918 rs371020710	783	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1440579500 CA378754489	784	S>G		No	ClinGen gnomAD
rs777276595 CA5751920	785	E>D		No	ClinGen ExAC gnomAD
rs1219437187 CA378754503	786	L>M		No	ClinGen gnomAD
CA5751921 rs746578069	787	R>C		No	ClinGen ExAC TOPMed gnomAD
CA378754508 rs746578069	787	R>G		No	ClinGen ExAC TOPMed gnomAD
rs148025571 CA5751922	787	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA5751924 rs745483482	788	E>K		No	ClinGen ExAC TOPMed gnomAD
rs150154129 CA5751926	789	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150154129 CA5751925	789	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1186716869 CA378754520	789	R>W		No	ClinGen TOPMed
CA5751928 rs764188577	791	A>T		No	ClinGen ExAC gnomAD
CA378754545 rs1352445421	793	I>F		No	ClinGen TOPMed
VAR_039473	795	R>G	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
CA378754556 rs760851282	795	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5751930 rs760851282	795	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs774428233 CA5751929	795	R>W		No	ClinGen ExAC TOPMed gnomAD
rs200657240 COSM3769006 CA5751932	797	R>C	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA5751933 rs755115850	797	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5751934 rs755115850	797	R>L		No	ClinGen ExAC TOPMed gnomAD
rs200657240 CA378754566	797	R>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1278535299 CA378754574	798	M>I		No	ClinGen gnomAD
CA5751935 rs752999616	798	M>K		No	ClinGen ExAC gnomAD
rs752999616 CA378754573	798	M>R		No	ClinGen ExAC gnomAD
CA378754597 rs1430843571	802	Q>*		No	ClinGen gnomAD
rs199693255 CA5751937	804	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1231371013	806	Q>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs141891193 CA5751939	806	Q>E		No	ClinGen ESP ExAC gnomAD
CA378754700 rs1235847342	809	K>E		No	ClinGen TOPMed gnomAD
CA216722366 rs1043071923	810	E>G		No	ClinGen gnomAD
CA378754742 rs1167901653	812	E>K		No	ClinGen gnomAD
rs1038068038 CA216722390	815	I>T		No	ClinGen TOPMed gnomAD
rs1394214220 CA378754787	815	I>V		No	ClinGen TOPMed
TCGA novel	816	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755682873 CA5751959	816	E>V		No	ClinGen ExAC gnomAD
rs1168771554 CA378754813	817	A>D		No	ClinGen gnomAD
rs925909312 CA216722405 COSM3806763	818	Q>H	breast [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1412337908 CA378754856	821	Q>E		No	ClinGen TOPMed gnomAD
rs374347826 CA5751961	826	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs778811438 CA5751963	827	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5751962 rs768594690	827	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs528596940 CA5751982	831	F>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	836	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378746894 rs1285729013	842	L>R		No	ClinGen Ensembl
CA378746910 rs1380582992	843	W>*		No	ClinGen TOPMed
CA378746923 rs1469159743	844	S>L		No	ClinGen gnomAD

No associated diseases with Q5VZ66

1 regional properties for Q5VZ66

Type	Name	Position	InterPro Accession
domain	Janus kinase and microtubule-interacting protein, C-terminal domain	429 - 625	IPR031994

Functions

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

1 GO annotations of cellular component

Name	Definition
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.

2 GO annotations of molecular function

Name	Definition
kinase binding	Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
microtubule binding	Binding to a microtubule, a filament composed of tubulin monomers.

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q5DTN8	Jakmip3	Janus kinase and microtubule-interacting protein 3	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MSKRGMSSRA	KGDKAEALAA	LQAANEDLRA	KLTDIQIELQ	QEKSKVSKVE	REKNQELRQV
70	80	90	100	110	120
REHEQHKTAV	LLTELKTKLH	EEKMKELQAV	RETLLRQHEA	ELLRVIKIKD	NENQRLQALL
130	140	150	160	170	180
SALRDGGPEK	VKTVLLSEAK	EEAKKGFEVE	KVKMQQEISE	LKGAKRQVEE	ALTLVIQADK
190	200	210	220	230	240
IKAAEIRSVY	HLHQEEITRI	KKECEREIRR	LMEEIKFKDR	AVFVLERELG	VQAGHAQRLQ
250	260	270	280	290	300
LQKEALDEQL	SQVREADRHP	GSPRRELPHA	AGAGDASDHS	GSPEQQLDEK	DARRFQLKIA
310	320	330	340	350	360
ELSAIIRKLE	DRNALLSEER	NELLKRVREA	ESQYKPLLDK	NKRLSRKNED	LSHALRRMEN
370	380	390	400	410	420
KLKFVTQENI	EMRQRAGIIR	RPSSLNDLDQ	SQDEREVDFL	KLQIVEQQNL	IDELSKTLET
430	440	450	460	470	480
AGYVKSVLER	DKLLRFRKQR	KKMAKLPKPV	VVETFFGYDE	EASLESDGSS	VSYQTDRTDQ
490	500	510	520	530	540
TPCTPDDDLE	EGMAKEETEL	RFRQLTMEYQ	ALQRAYALLQ	EQVGGTLDAE	REVKTREQLQ
550	560	570	580	590	600
AEVQRAQARI	EDLEKALAEQ	GQDMKWIEEK	QALYRRNQEL	VEKIKQMETE	EARLRHEVQD
610	620	630	640	650	660
ARDQNELLEF	RILELEERER	KSPAISFHHT	PFVDGKSPLQ	VYCEAEGVTD	IVVAELMKKL
670	680	690	700	710	720
DILGDNANLT	NEEQVVVIQA	RTVLTLAEKW	LQQIEETEAA	LQRKMVDLES	EKELFSKQKG
730	740	750	760	770	780
YLDEELDYRK	QALDQANKHI	LELEAMLYDA	LQQEAGAKVA	ELLSEEEREK	LKVAVEQWKR
790	800	810	820	830	840
QVMSELRERD	AQILRERMEL	LQLAQQRIKE	LEERIEAQKR	QIKELEEKFL	FLFLFFSLAF

ILWS