AiPD: Autoinhibited Protein Database

Q8NAA4

Gene name	ATG16L2 (WDR80)
Protein name	Protein Atg16l2
Names	APG16-like 2, Autophagy-related protein 16-2, WD repeat-containing protein 80
Species	Homo sapiens (Human)
KEGG Pathway	hsa:89849
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

25-303 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

25-303 (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 Q8NAA4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q8NAA4-F1	Predicted				AlphaFoldDB

550 variants for Q8NAA4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA381787687 rs1343988610	2	A>V		No	ClinGen gnomAD
rs1252172656 CA381787714	4	P>L		No	ClinGen gnomAD
rs1252172656 CA381787713	4	P>R		No	ClinGen gnomAD
CA224460235 rs988447741	5	G>C		No	ClinGen TOPMed gnomAD
rs1375707673 CA381787719	5	G>D		No	ClinGen TOPMed
CA224460240 rs548699072	6	V>F		No	ClinGen 1000Genomes gnomAD
rs548699072 CA224460237	6	V>I		No	ClinGen 1000Genomes gnomAD
CA381787725 rs548699072	6	V>L		No	ClinGen 1000Genomes gnomAD
rs749696419 CA6174749	7	P>H		No	ClinGen ExAC gnomAD
CA381787737 rs1427588441	7	P>S		No	ClinGen TOPMed
CA381787743 rs1376326939	8	G>S		No	ClinGen gnomAD
rs568739118 CA224460247	9	A>G		No	ClinGen 1000Genomes gnomAD
rs1465810842 CA381787758	9	A>P		No	ClinGen TOPMed gnomAD
rs1465810842 CA381787755	9	A>T		No	ClinGen TOPMed gnomAD
CA381787768 rs1478113736	10	P>S		No	ClinGen TOPMed gnomAD
CA381787783 rs769087083	11	A>P		No	ClinGen ExAC gnomAD
CA6174750 rs769087083	11	A>S		No	ClinGen ExAC gnomAD
rs774060355 CA6174751	13	R>C		No	ClinGen ExAC
rs942206610 CA224460257	15	K>E		No	ClinGen Ensembl
CA6174752 rs143300353	16	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA381787848 rs143300353	16	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6174753 rs143300353	16	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs11235600 CA224460264	17	H>Y		No	ClinGen TOPMed
CA381787904 rs1346221433	20	R>G		No	ClinGen gnomAD
rs1406735849 CA381787909	20	R>Q		No	ClinGen gnomAD
rs772633981 CA6174754	22	L>R		No	ClinGen ExAC gnomAD
CA381787954 rs1330326692	24	L>F		No	ClinGen gnomAD
rs1252710241 CA381787996	28	T>M		No	ClinGen gnomAD
CA381787994 rs1252710241	28	T>R		No	ClinGen gnomAD
CA224460285 rs753716870	32	L>I		No	ClinGen ExAC gnomAD
rs759329092 CA6174758	32	L>P		No	ClinGen ExAC gnomAD
CA6174757 rs753716870	32	L>V		No	ClinGen ExAC gnomAD
CA381788063 rs1490688985	35	E>V		No	ClinGen gnomAD
rs947148866 CA224460291	37	V>M		No	ClinGen TOPMed
CA224460295 rs868347219	38	P>S		No	ClinGen Ensembl
rs922149168 CA224460300	39	A>S		No	ClinGen TOPMed
rs1194272194 CA381788101	40	Y>H		No	ClinGen TOPMed gnomAD
CA6174779 rs765200178	42	H>R		No	ClinGen ExAC gnomAD
CA6174778 rs759527212	42	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA224461580 rs1018877956	43	L>R		No	ClinGen Ensembl
CA224461574 rs1007316234	43	L>V		No	ClinGen Ensembl
CA381788414 rs1201014072	45	E>G		No	ClinGen TOPMed
CA6174781 rs372509129	47	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs756268984 CA6174784	52	K>*		No	ClinGen ExAC gnomAD
rs1591292775 CA381788534	57	L>R		No	ClinGen Ensembl
rs138450793 CA6174786	57	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6174787 rs755474307	58	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA381788539 rs1180336012	58	Q>P		No	ClinGen gnomAD
CA6174788 rs201930699	59	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866148818 CA224461600	60	E>*		No	ClinGen Ensembl
CA381788573 rs1413164582	61	P>R		No	ClinGen TOPMed
rs758731122 CA6174791	63	S>G		No	ClinGen ExAC gnomAD
CA381788597 rs1456517544	63	S>N		No	ClinGen gnomAD
CA381788609 rs1349413971	64	V>D		No	ClinGen gnomAD
rs144002516 CA6174793	67	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs180875949 CA6174795	69	H>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs180875949 CA6174794	69	H>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1373454585 CA381788675	70	Q>H		No	ClinGen gnomAD
rs200728373 CA6174796	70	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA6174798 rs775449948	72	P>S		No	ClinGen ExAC gnomAD
CA6174799 rs762673462	73	W>G		No	ClinGen ExAC gnomAD
rs1190356665 CA381771943	74	E>K		No	ClinGen gnomAD
rs776932302 CA6174822	75	E>K		No	ClinGen ExAC gnomAD
rs911436256 CA224434821	77	E>G		No	ClinGen Ensembl
CA6174823 rs759537329	77	E>K		No	ClinGen ExAC gnomAD
CA224434824 rs965768111	78	L>F		No	ClinGen Ensembl
rs765422473 CA6174824	81	D>H		No	ClinGen ExAC gnomAD
rs765422473 CA6174825	81	D>Y		No	ClinGen ExAC gnomAD
rs763563880 CA6174826	84	P>S		No	ClinGen ExAC gnomAD
rs762416026 CA224434844	85	S>A		No	ClinGen Ensembl
rs751952468 CA6174828	87	V>F		No	ClinGen ExAC TOPMed gnomAD
CA381772215 rs751952468	87	V>L		No	ClinGen ExAC TOPMed gnomAD
CA381772226 rs1366334064	88	A>T		No	ClinGen TOPMed gnomAD
rs1341581403 CA381772290 CA381772288	90	R>S		No	ClinGen TOPMed gnomAD
CA381772322 rs1291956853	92	K>T		No	ClinGen gnomAD
rs1220737341 CA381772358	93	W>C		No	ClinGen gnomAD
rs750028212 CA6174832	94	Q>K		No	ClinGen ExAC TOPMed
rs1242530053 CA381772373	94	Q>R		No	ClinGen gnomAD
CA6174833 rs200746293	95	E>G		No	ClinGen ExAC gnomAD
rs913204989 CA224434852	95	E>Q		No	ClinGen Ensembl
rs768741849 CA6174836	96	E>G		No	ClinGen ExAC gnomAD
rs748729101 CA6174835	96	E>K		No	ClinGen ExAC gnomAD
rs778942205 CA6174837	97	E>G		No	ClinGen ExAC gnomAD
rs1410986352 CA381772432	97	E>K		No	ClinGen gnomAD
CA6174838 rs747967304	98	E>G		No	ClinGen ExAC gnomAD
CA6174839 rs771922954	99	G>E		No	ClinGen ExAC gnomAD
rs769884957 CA6174842	101	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs532590002 COSM3398120 CA6174841	101	R>W	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA381772535 rs1286099261	104	C>Y		No	ClinGen TOPMed gnomAD
CA381774417 rs1447746468	108	A>T		No	ClinGen gnomAD
rs1169899023 CA381774428	108	A>V		No	ClinGen gnomAD
TCGA novel	110	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381774461 rs1207317233	110	Q>H		No	ClinGen TOPMed
CA381774469 rs1459417450	111	V>L		No	ClinGen gnomAD
CA224437216 rs201700689	114	K>E		No	ClinGen 1000Genomes
CA381774552 rs1482476907	115	G>S		No	ClinGen TOPMed
CA224437218 rs1014002980	116	A>V		No	ClinGen TOPMed
rs1291693966 CA381774585	117	A>T		No	ClinGen gnomAD
rs754669980 CA6174872	118	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA381774616 rs1251145111	119	G>R		No	ClinGen TOPMed gnomAD
CA381774635 rs1433891635	121	L>M		No	ClinGen gnomAD
rs752231293 CA381774681	123	S>*		No	ClinGen ExAC TOPMed gnomAD
rs1591301105 CA381774674	123	S>A		No	ClinGen Ensembl
CA6174874 rs752231293	123	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1383750817 CA381774694	124	E>Q		No	ClinGen TOPMed
rs1322973231 CA381774740	126	Q>R		No	ClinGen gnomAD
rs1247652567 CA381774757	127	Q>*		No	ClinGen gnomAD
rs529570599 CA224437235	127	Q>H		No	ClinGen 1000Genomes TOPMed gnomAD
rs758449802 CA6174875	127	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1047035864 CA224437236	129	Q>*		No	ClinGen TOPMed
rs1047035864 CA381774796	129	Q>K		No	ClinGen TOPMed
CA381774983 rs1193908628	133	A>V		No	ClinGen TOPMed
rs777038938 CA6174890	134	A>V		No	ClinGen ExAC gnomAD
CA6174891 rs759309439	135	L>R		No	ClinGen ExAC gnomAD
CA381775045 rs1208280165	137	A>G		No	ClinGen gnomAD
CA381775068 rs1279761361	138	R>H		No	ClinGen gnomAD
rs866720452 CA224437643	138	R>S		No	ClinGen Ensembl
CA381775083 rs1198616759	139	V>A		No	ClinGen TOPMed
CA6174893 rs752286622 CA381775078	139	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1249439253 CA381775101	140	A>V		No	ClinGen gnomAD
CA6174895 rs764106685	143	R>G		No	ClinGen ExAC TOPMed gnomAD
rs751388517 CA6174896	143	R>P		No	ClinGen ExAC TOPMed gnomAD
rs751388517 CA224437673	143	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1297133062 CA381775171	144	E>G		No	ClinGen TOPMed
rs757217013 CA6174897	144	E>K		No	ClinGen ExAC gnomAD
rs780909362 CA6174898	145	A>T		No	ClinGen ExAC
rs745808792 CA224437705	146	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6174900 rs755237867	146	R>L		No	ClinGen ExAC gnomAD
CA381775210 rs1431062828	147	A>T		No	ClinGen gnomAD
rs1310395724 CA381775229	148	Q>R		No	ClinGen gnomAD
TCGA novel	149	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6174902 rs779071640	150	A>V		No	ClinGen ExAC gnomAD
rs1294556210 CA381775274	151	Q>*		No	ClinGen gnomAD
CA381775286 rs1370147387	151	Q>H		No	ClinGen gnomAD
rs1302899695 CA381775305	152	Q>H		No	ClinGen TOPMed gnomAD
rs1232435238 CA381775298	152	Q>R		No	ClinGen gnomAD
CA381775313 rs1342964754	153	V>L		No	ClinGen gnomAD
rs1230626042 CA381775338	154	E>D		No	ClinGen TOPMed gnomAD
rs1270951409 CA381775348	155	E>*		No	ClinGen TOPMed gnomAD
CA6174904 rs1555032600	156	W>*		No	ClinGen Ensembl
CA224437734 rs908322564	156	W>G		No	ClinGen TOPMed gnomAD
CA381775365 rs908322564	156	W>R		No	ClinGen TOPMed gnomAD
CA381775380 rs1222174247	157	R>G		No	ClinGen TOPMed gnomAD
rs771975030 CA6174906	157	R>L		No	ClinGen ExAC TOPMed gnomAD
CA381775381 rs1222174247	157	R>W		No	ClinGen TOPMed gnomAD
CA224437761 rs1014015841	160	N>D		No	ClinGen Ensembl
rs866743394 CA224437768	160	N>K		No	ClinGen TOPMed
CA381775452 rs1591302061	162	V>A		No	ClinGen Ensembl
rs1166238586 CA381775464	163	Q>P		No	ClinGen gnomAD
rs1166238586 CA381775467	163	Q>R		No	ClinGen gnomAD
CA381775485 rs1166084942	164	R>L		No	ClinGen TOPMed gnomAD
CA381775481 rs1166084942	164	R>Q		No	ClinGen TOPMed gnomAD
CA381775478 rs1409939452	164	R>W		No	ClinGen TOPMed gnomAD
CA381775494 rs1439072715	165	A>E		No	ClinGen TOPMed gnomAD
CA224437829 rs961962988	165	A>T		No	ClinGen TOPMed
CA381775499 rs1439072715	165	A>V		No	ClinGen TOPMed gnomAD
CA224437843 rs973283789	166	A>S		No	ClinGen Ensembl
rs777175160 CA6174911	167	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs930896831 CA381775531	168	E>K		No	ClinGen TOPMed
rs930896831 CA224437860	168	E>Q		No	ClinGen TOPMed
rs1437540307 CA381775572	169	A>V		No	ClinGen TOPMed gnomAD
CA6174913 rs769592479	170	L>V		No	ClinGen ExAC gnomAD
CA381775591 rs1315317345	171	R>S		No	ClinGen TOPMed
CA6174914 rs775225390	173	H>L		No	ClinGen ExAC gnomAD
CA381775620 rs1291886278	173	H>N		No	ClinGen gnomAD
CA381775639 rs1212780396	173	H>Q		No	ClinGen TOPMed gnomAD
CA381775645 rs1248396813	174	V>L		No	ClinGen TOPMed gnomAD
CA381775683 rs1186248391	176	L>F		No	ClinGen gnomAD
rs1347821647 CA381775718	178	E>G		No	ClinGen gnomAD
rs1161301436 CA381775705	178	E>K		No	ClinGen TOPMed
rs868603536 CA381775755	180	A>S		No	ClinGen gnomAD
CA224437888 rs868603536	180	A>T		No	ClinGen gnomAD
CA6174916 rs763579653	180	A>V		No	ClinGen ExAC gnomAD
CA224437897 rs889133952	182	R>P		No	ClinGen TOPMed gnomAD
rs1460323891 CA381775797	183	R>G		No	ClinGen TOPMed gnomAD
CA224437910 rs1027770518	187	E>D		No	ClinGen gnomAD
CA6174917 rs771836595	188	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1459064585 CA381775900	188	A>T		No	ClinGen gnomAD
rs767460946 CA6174919	189	R>C		No	ClinGen ExAC TOPMed gnomAD
CA381775913 rs767460946	189	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1228152879 CA381775931	190	D>A		No	ClinGen TOPMed
rs750253711 CA6174920	192	L>R		No	ClinGen ExAC gnomAD
rs1353552282 CA381775990	193	E>G		No	ClinGen gnomAD
CA381776011 rs1591302464	194	R>M		No	ClinGen Ensembl
CA381776022 rs1232600501	195	L>I		No	ClinGen gnomAD
rs755859265 CA6174921	196	V>L		No	ClinGen ExAC TOPMed gnomAD
CA381776088 rs1295679996	198	R>P		No	ClinGen TOPMed
rs944873805 CA224437945	199	K>N		No	ClinGen TOPMed gnomAD
rs1283076460 CA381776105	199	K>R		No	ClinGen gnomAD
CA381776153 rs1348095465	201	R>P		No	ClinGen TOPMed
CA381776137 rs1189083141	201	R>S		No	ClinGen gnomAD
CA381776202 rs1355981416	204	A>G		No	ClinGen TOPMed
rs1474534305 CA381776234	206	R>L		No	ClinGen TOPMed gnomAD
rs957189286 CA224437948	207	N>H		No	ClinGen TOPMed gnomAD
rs1418240058 CA381776255	207	N>I		No	ClinGen TOPMed
rs957189286 CA381776248	207	N>Y		No	ClinGen TOPMed gnomAD
CA381776269 rs1453851026	208	L>Q		No	ClinGen gnomAD
rs779108506 CA6174923	208	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1473753904 CA381776282	209	R>H		No	ClinGen gnomAD
CA6174924 rs752980963	210	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1384458250 CA381776310	211	E>G		No	ClinGen TOPMed gnomAD
CA381776311 rs1384458250	211	E>V		No	ClinGen TOPMed gnomAD
CA381776321 rs1415244170	212	R>C		No	ClinGen gnomAD
CA381776323 rs1336320437	212	R>H		No	ClinGen gnomAD
CA381776317 rs1415244170	212	R>S		No	ClinGen gnomAD
rs758631087 CA224437960	213	R>P		No	ClinGen ExAC gnomAD
rs758631087 CA6174925	213	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	214	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs914060033 CA381776355	215	R>W		No	ClinGen gnomAD
CA381777040 rs1166980249	216	A>S		No	ClinGen TOPMed
TCGA novel	216	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771688111 CA6174978	217	K>N		No	ClinGen ExAC gnomAD
CA381777055 rs1565264722	217	K>R		No	ClinGen Ensembl
rs772746188 CA6174979	218	Q>K		No	ClinGen ExAC gnomAD
CA224438319 rs200456427	219	A>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA6174981 VAR_043605 rs11235604	220	R>W		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1333713990 CA381777126	224	E>K		No	ClinGen gnomAD
CA381777141 rs1484941424	225	L>V		No	ClinGen gnomAD
CA6174983 rs776573775	226	K>E		No	ClinGen ExAC gnomAD
CA6174984 rs759253273	227	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1416927182 CA381777169	227	K>N		No	ClinGen gnomAD
CA6174985 rs769697470	227	K>T		No	ClinGen ExAC TOPMed gnomAD
CA381777206 rs1160850006	231	R>Q		No	ClinGen gnomAD
CA224438333 rs148743255	231	R>W		No	ClinGen ESP TOPMed gnomAD
CA381777244 rs1302958450	235	I>V		No	ClinGen gnomAD
CA6175007 rs775402637	238	G>V		No	ClinGen ExAC TOPMed gnomAD
rs772451287 CA6175009	239	P>L		No	ClinGen ExAC TOPMed gnomAD
CA381777340 rs1230978959	240	D>N		No	ClinGen gnomAD
rs1027049563 CA224438543	241	T>I		No	ClinGen TOPMed gnomAD
rs1591304131 CA381777348	241	T>P		No	ClinGen Ensembl
CA381777364 rs1191447162	244	D>N		No	ClinGen TOPMed gnomAD
rs865847567 CA224438544	245	G>W		No	ClinGen Ensembl
CA6175010 rs773498117	246	M>I		No	ClinGen ExAC gnomAD
rs1347218247 CA381777393	248	E>Q		No	ClinGen TOPMed
CA224438554 rs150821280	249	R>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs150821280 CA6175011	249	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175012 rs766551326	250	R>G		No	ClinGen ExAC TOPMed gnomAD
CA381777416 rs1416729973	251	E>D		No	ClinGen gnomAD
rs985579249 CA224438558	251	E>K		No	ClinGen TOPMed gnomAD
rs1565265251 CA381777420	252	T>A		No	ClinGen Ensembl
CA381777429 rs1326849993	253	L>M		No	ClinGen gnomAD
rs751650269 CA224438573	253	L>P		No	ClinGen gnomAD
CA381777441 rs1362686328	254	A>G		No	ClinGen TOPMed gnomAD
rs1362686328 CA381777443	254	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs910723203 CA224438576	256	A>V		No	ClinGen TOPMed gnomAD
rs538481822 CA224438578	257	P>A		No	ClinGen TOPMed gnomAD
rs1222093984 CA381777469	257	P>L		No	ClinGen gnomAD
CA224438594 rs868141371	258	E>*		No	ClinGen Ensembl
rs760141265 CA6175016	261	P>S		No	ClinGen ExAC gnomAD
CA224438596 rs966158011	263	E>Q		No	ClinGen TOPMed gnomAD
rs931369825 CA224438597	264	K>E		No	ClinGen TOPMed
rs538460355 CA381777576	267	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538460355 CA6175017	267	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6175018 rs753093468	269	K>N		No	ClinGen ExAC gnomAD
rs976316794 CA224438614	269	K>T		No	ClinGen TOPMed
CA381777615 rs1409871659	270	W>*		No	ClinGen gnomAD
CA381777636 rs1397132030	272	R>G		No	ClinGen gnomAD
CA381777649 rs1460088505	273	P>S		No	ClinGen TOPMed gnomAD
CA381778141 rs1263944851	277	A>G		No	ClinGen gnomAD
rs774719029 CA6175058	277	A>P		No	ClinGen ExAC TOPMed gnomAD
CA381778143 rs1426723934	278	S>A		No	ClinGen gnomAD
CA381778148 rs1192780998	278	S>L		No	ClinGen gnomAD
CA6175059 rs762042459	279	A>T		No	ClinGen ExAC gnomAD
rs1476042867 CA381778157	280	T>I		No	ClinGen TOPMed gnomAD
rs1591306764 CA381778154	280	T>P		No	ClinGen Ensembl
rs139269726 CA6175062	283	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6175063 rs139269726	283	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA224439562 rs970386752	284	L>P		No	ClinGen gnomAD
TCGA novel	286	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778956881 CA6175066	286	H>R		No	ClinGen ExAC gnomAD
rs780009142 CA224439579	287	C>R		No	ClinGen gnomAD
rs780009142 CA381778192	287	C>S		No	ClinGen gnomAD
rs1291790302 CA381778199	288	V>M		No	ClinGen gnomAD
CA381778209 rs1240012909	289	D>G		No	ClinGen gnomAD
CA381778205 rs1190962255	289	D>N		No	ClinGen TOPMed
CA381778217 rs1262583191	290	V>A		No	ClinGen gnomAD
CA6175068 rs752543316	291	V>G		No	ClinGen ExAC TOPMed gnomAD
CA381778227 rs1248928500	292	K>T		No	ClinGen TOPMed
CA224439597 rs79145554	296	D>G		No	ClinGen Ensembl
TCGA novel	296	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs921283070 CA224440241	297	F>C		No	ClinGen TOPMed
CA6175092 rs756350179	298	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	298	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	299	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780207822 CA6175094	300	R>G		No	ClinGen ExAC gnomAD
rs749372930 CA6175095	300	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1446321059 CA381778294	300	R>S		No	ClinGen gnomAD
rs977682407 CA224440272	304	S>*		No	ClinGen Ensembl
rs536115700 CA6175098	305	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1565267577 CA381778325	305	I>M		No	ClinGen Ensembl
rs199726953 CA381778323	305	I>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199726953 CA6175099	305	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs536115700 CA381778322	305	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs144118330 CA224440283	306	G>W		No	ClinGen 1000Genomes
rs761084631 CA6175102	307	G>E		No	ClinGen ExAC gnomAD
CA224440293 rs936233321	307	G>R		No	ClinGen Ensembl
CA6175103 rs201600699	310	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6175105 rs759250549	312	R>*		No	ClinGen ExAC TOPMed gnomAD
rs759250549 CA381778362	312	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6175106 rs764908171	312	R>Q		No	ClinGen ExAC gnomAD
rs1159249344 CA381778375	314	Q>*		No	ClinGen TOPMed gnomAD
rs752221997 CA6175107	317	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1425146363 CA381778401	318	V>L		No	ClinGen gnomAD
rs1425146363 CA381778400	318	V>M		No	ClinGen gnomAD
CA6175108 RCV000962198 rs77419620	319	C>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs77419620 CA224440312	319	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	321	A>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1676283 CA6175109 rs764043252	323	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs369306828 CA6175110	323	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs766599053 CA6175112	327	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6175113 rs766599053	327	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs146520723 CA6175111	327	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM545070 rs1565267692 CA381778458	328	A>V	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA381778461 rs1434329834	329	Q>*		No	ClinGen TOPMed gnomAD
rs755184931 CA6175114	329	Q>R		No	ClinGen ExAC gnomAD
CA381778471 rs1169823839	330	D>E		No	ClinGen TOPMed
CA6175115 rs531275476	330	D>N		No	ClinGen 1000Genomes ExAC
CA6175116 rs748213121	331	V>L		No	ClinGen ExAC gnomAD
CA6175118 rs778279430	332	L>P		No	ClinGen ExAC gnomAD
CA224440335 rs146474296	332	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6175147 rs773844965	333	D>V		No	ClinGen ExAC gnomAD
rs761774058 CA6175148	334	A>T		No	ClinGen ExAC gnomAD
TCGA novel	335	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA381778511 rs1418864112	335	H>Q		No	ClinGen TOPMed gnomAD
CA381778506 rs1156909420	335	H>Y		No	ClinGen gnomAD
rs899774907 CA224440691	337	S>P		No	ClinGen Ensembl
rs767416718 CA6175150	338	E>D		No	ClinGen ExAC gnomAD
CA224440703 rs896289231	340	N>D		No	ClinGen TOPMed
rs201429666 CA6175151	340	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	341	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1446841375 CA381778548	342	V>I		No	ClinGen gnomAD
rs1446841375 CA381778549	342	V>L		No	ClinGen gnomAD
rs143377298 CA6175153	343	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs143377298 CA6175152	343	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175154 rs61738587	343	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6175155 rs764311420	347	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1284644840 CA381778585	348	S>G		No	ClinGen gnomAD
rs1353696863 CA381778587	348	S>N		No	ClinGen gnomAD
CA381778591 rs1212155720	348	S>R		No	ClinGen gnomAD
rs757862655 CA6175157	350	L>H		No	ClinGen ExAC TOPMed gnomAD
rs1223432805 CA381778615	352	A>V		No	ClinGen TOPMed
CA6175158 rs781750008	353	T>S		No	ClinGen ExAC gnomAD
CA6175161 rs780267490	355	G>R		No	ClinGen ExAC gnomAD
CA224440732 rs1006329810	356	A>D		No	ClinGen TOPMed
CA6175162 rs749034330	357	D>E		No	ClinGen ExAC gnomAD
rs768160673 CA381778644 COSM1242017	358	R>C	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs768160673 CA381778645	358	R>G		No	ClinGen ExAC gnomAD
CA6175164 rs778439980	358	R>H		No	ClinGen ExAC TOPMed gnomAD
rs768160673 CA6175163	358	R>S		No	ClinGen ExAC gnomAD
TCGA novel	359	L>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1336925477 CA381778656	360	I>N		No	ClinGen TOPMed
rs1309730589 CA381778665	361	H>R		No	ClinGen TOPMed
rs376493601 CA6175165	362	L>F		No	ClinGen ESP ExAC gnomAD
CA6175167 rs370112019	364	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175168 rs760518536	365	V>I		No	ClinGen ExAC gnomAD
rs1277070796 CA381778696	366	V>L		No	ClinGen gnomAD
rs1277070796 CA381778694	366	V>M		No	ClinGen gnomAD
CA6175169 rs770828941	367	G>V		No	ClinGen ExAC gnomAD
rs761289753 CA6175195 COSM931756	369	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6175196 rs374124705	369	R>H		No	ClinGen ESP ExAC TOPMed
rs374124705 CA381778727	369	R>L		No	ClinGen ESP ExAC TOPMed
CA6175199 rs377424006	374	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	374	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6175200 rs765575560	375	T>P		No	ClinGen ExAC TOPMed gnomAD
CA381778764 rs765575560	375	T>S		No	ClinGen ExAC TOPMed gnomAD
rs752417065 CA381778780	377	E>D		No	ClinGen ExAC TOPMed gnomAD
rs758019259 CA381778791	379	A>G		No	ClinGen ExAC TOPMed gnomAD
rs758019259 CA6175202	379	A>V		No	ClinGen ExAC TOPMed gnomAD
CA381778794 rs1202895402	380	G>D		No	ClinGen TOPMed
rs921873055 CA224441381	380	G>S		No	ClinGen TOPMed
CA6175203 rs777392140	383	I>T		No	ClinGen ExAC TOPMed gnomAD
rs986648268 CA224441382	384	T>I		No	ClinGen Ensembl
rs931895562 CA224441383	390	P>A		No	ClinGen TOPMed gnomAD
rs769689284 CA224441386	391	S>L		No	ClinGen gnomAD
rs763616318 CA6175221	392	G>A		No	ClinGen ExAC TOPMed gnomAD
rs763616318 CA381778885	392	G>D		No	ClinGen ExAC TOPMed gnomAD
rs369120388 CA6175222	398	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs780738066 CA6175224	399	T>A		No	ClinGen ExAC gnomAD
CA381778931 rs1177244647	399	T>I		No	ClinGen TOPMed
CA6175227 rs780039646	400	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs199542942 CA6175226	400	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA381778942 rs1374675645	401	N>S		No	ClinGen gnomAD
rs1591311469 CA381778962	404	A>T		No	ClinGen Ensembl
rs1591311503 CA381779001	409	V>G		No	ClinGen Ensembl
rs948302785 CA224441641	409	V>L		No	ClinGen TOPMed gnomAD
CA6175232 rs770985644	410	G>E		No	ClinGen ExAC gnomAD
CA6175233 rs776745903	411	E>K		No	ClinGen ExAC gnomAD
rs760089327 CA6175234	412	A>T		No	ClinGen ExAC gnomAD
CA381779016 rs1565269828	412	A>V		No	ClinGen Ensembl
CA381779040 CA381779039 rs373191976	415	K>N		No	ClinGen ESP ExAC gnomAD
TCGA novel	416	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766430064 CA6175263	416	E>K		No	ClinGen ExAC gnomAD
rs142581537 CA6175266	418	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA224441850 rs938436619	422	K>R		No	ClinGen Ensembl
CA381779117 rs1319364345	425	V>G		No	ClinGen gnomAD
rs1291412222 CA381779114	425	V>M		No	ClinGen gnomAD
TCGA novel	430	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194932964 CA381779159	431	K>N		No	ClinGen TOPMed
CA6175267 rs368086033	431	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175268 rs370896555	433	T>M	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs1196372496 CA381779172	434	R>K		No	ClinGen gnomAD
CA381779180 rs1591311940	435	H>P		No	ClinGen Ensembl
rs1310479733 CA381779178	435	H>Y		No	ClinGen gnomAD
rs1261462714 CA381779196	437	A>E		No	ClinGen gnomAD
rs781326474 CA6175270	442	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1038381116 CA224441883	442	R>H		No	ClinGen TOPMed gnomAD
CA6175272 rs769922001	443	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6175274 rs749797227	444	R>Q		No	ClinGen ExAC gnomAD
CA6175277 rs748501059	448	E>G		No	ClinGen ExAC gnomAD
CA381779269 rs1591312027	449	W>G		No	ClinGen Ensembl
CA381779282 rs1328262527	450	D>E		No	ClinGen TOPMed
CA381779276 rs1565270315	450	D>N		No	ClinGen Ensembl
CA381779294 rs1286099537	452	G>A		No	ClinGen gnomAD
rs925602962 CA381779290	452	G>R		No	ClinGen TOPMed gnomAD
rs925602962 CA224441916	452	G>S		No	ClinGen TOPMed gnomAD
CA6175280 rs181866073 COSM429814	453	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA224441917 rs368546416	453	R>H		No	ClinGen ESP TOPMed gnomAD
TCGA novel	454	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1219354879 CA381779308	455	Y>C		No	ClinGen gnomAD
CA6175281 rs766028610	456	C>G		No	ClinGen ExAC TOPMed gnomAD
CA6175282 rs766028610	456	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1413558655 CA381779341	458	R>K		No	ClinGen gnomAD
COSM1704366 rs1331560649 CA381779343	458	R>S	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1401869716 CA381779345	459	T>A		No	ClinGen TOPMed gnomAD
rs1241147600 CA381779349	459	T>I		No	ClinGen TOPMed
rs762796519 CA6175304	460	I>S		No	ClinGen ExAC gnomAD
rs372774100 CA6175305	461	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA224442157 rs372774100	461	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175306 rs534527439	461	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA381779357 rs534527439	461	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs973561429 CA224442179	462	V>A		No	ClinGen Ensembl
rs756350126 CA6175307	464	S>Y		No	ClinGen ExAC gnomAD
CA381779378 rs1343267547	465	Y>H		No	ClinGen TOPMed gnomAD
rs766544041 CA6175308	466	C>F		No	ClinGen ExAC gnomAD
CA6175310 COSM931758 rs553100451	469	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	473	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs748732085 CA6175312	473	D>G		No	ClinGen ExAC gnomAD
rs1200829123 CA381779444	474	H>R		No	ClinGen gnomAD
rs758954622 CA6175313	475	I>V		No	ClinGen ExAC TOPMed gnomAD
rs747341716 CA6175315	479	G>D		No	ClinGen ExAC gnomAD
CA381779493 rs1357933242	481	N>S		No	ClinGen TOPMed
rs770712690 CA6175316	482	D>G		No	ClinGen ExAC gnomAD
CA381779498 rs1314917004	482	D>H		No	ClinGen TOPMed
rs780840366 CA6175317	485	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6175319 COSM371703 rs769415235	486	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA6175318 rs201308008	486	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs774830257 CA6175320	488	W>G		No	ClinGen ExAC gnomAD
CA6175321 rs762926402	490	S>R		No	ClinGen ExAC gnomAD
CA224442225 rs920799706	491	R>W		No	ClinGen TOPMed gnomAD
CA224442869 rs113430241	492	G>R		No	ClinGen Ensembl
CA224442910 rs780531630	494	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs748755241 CA6175341	494	H>Y		No	ClinGen ExAC gnomAD
rs1591314891 CA381779609	496	T>P		No	ClinGen Ensembl
CA381779646 rs1468009478	500	P>A		No	ClinGen TOPMed gnomAD
CA381779649 rs1287936827	500	P>L		No	ClinGen gnomAD
CA6175344 rs761722652	504	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6175343 rs141976065	504	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA381779691 rs1350004010	505	V>A		No	ClinGen TOPMed
rs1425184217 CA381779701	506	T>I		No	ClinGen TOPMed gnomAD
CA381779696 rs1591314965	506	T>P		No	ClinGen Ensembl
rs1184850267 CA381779709	507	S>F		No	ClinGen gnomAD
CA224442926 rs919126692	509	S>N		No	ClinGen Ensembl
CA6175348 rs759829275	513	D>H		No	ClinGen ExAC TOPMed gnomAD
rs759829275 CA6175347	513	D>N		No	ClinGen ExAC TOPMed gnomAD
rs369740786 CA6175349	514	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175350 rs763068827	514	Q>H		No	ClinGen ExAC gnomAD
CA381779782 rs1591315081	516	H>P		No	ClinGen Ensembl
CA224442973 rs984728756	519	S>R		No	ClinGen TOPMed gnomAD
CA6175352 rs752180251	520	C>R		No	ClinGen ExAC TOPMed gnomAD
CA381779815 rs1409331196	520	C>Y		No	ClinGen gnomAD
rs781655286 CA6175354	521	S>C		No	ClinGen ExAC TOPMed gnomAD
CA381779824 rs781655286	521	S>F		No	ClinGen ExAC TOPMed gnomAD
rs750703393 CA6175355	522	R>*		No	ClinGen ExAC TOPMed gnomAD
rs755820801 CA6175356	522	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA381779839 rs1255000781	523	D>A		No	ClinGen TOPMed
rs779506320 CA6175357	523	D>E		No	ClinGen ExAC gnomAD
rs1440345853 CA381779834	523	D>N		No	ClinGen TOPMed
rs748806104 CA6175358	524	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1462651677 CA381779855	525	T>I		No	ClinGen gnomAD
rs377044129 CA6175360	528	V>I		No	ClinGen ESP ExAC TOPMed
rs773093966 CA381779894	530	D>A		No	ClinGen ExAC gnomAD
rs762421746 CA381779895 COSM3810379	530	D>E	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs773093966 CA6175363	530	D>G		No	ClinGen ExAC gnomAD
rs770072481 CA6175365	532	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775912740 CA6175366	532	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6175367 rs775912740	532	R>P		No	ClinGen ExAC TOPMed gnomAD
CA381779907 rs770072481	532	R>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	535	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751853489 COSM3720903 CA6175370	537	R>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA6175371 rs762403296	537	R>H		No	ClinGen ExAC TOPMed gnomAD
rs751853489 CA381779947	537	R>S		No	ClinGen ExAC TOPMed gnomAD
rs750803354 CA6175373	538	Q>H		No	ClinGen ExAC gnomAD
rs767870522 CA6175372	538	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs371207895 CA6175396	543	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs374760952 CA381780015	544	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175398 rs374760952	544	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175399 rs367875068	549	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1409502999 CA381780076	551	W>*		No	ClinGen gnomAD
rs1351612103 CA381780090	553	K>T		No	ClinGen gnomAD
rs1422653145 CA381780103	555	V>A		No	ClinGen gnomAD
CA224443265 rs540213343	555	V>M		No	ClinGen 1000Genomes
CA6175400 rs565192203	556	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs369947367 COSM195645 CA6175427	558	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6175428 rs369947367	558	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs772314744 CA6175430	559	D>E		No	ClinGen ExAC gnomAD
CA381780135 rs1565273230	559	D>H		No	ClinGen Ensembl
rs1406895739 CA381780142	560	R>G		No	ClinGen gnomAD
CA6175431 rs777734621	562	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1177721007 CA381780158	562	Y>H		No	ClinGen gnomAD
CA224443411 rs767867079	565	A>S		No	ClinGen Ensembl
rs753122202 CA224443447	566	G>A		No	ClinGen Ensembl
rs771442871 CA6175433	567	S>P		No	ClinGen ExAC gnomAD
rs199851515 CA6175434	568	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6175436 rs770188001	569	D>G		No	ClinGen ExAC gnomAD
CA6175435 rs760032306	569	D>N		No	ClinGen ExAC gnomAD
CA381780214 rs1265278938	571	A>V		No	ClinGen gnomAD
rs1426222626 CA381780251	576	D>E		No	ClinGen TOPMed
CA224443474 rs964566520	576	D>G		No	ClinGen Ensembl
rs762539163 CA6175438	577	V>M		No	ClinGen ExAC gnomAD
CA381780270 rs1439500219	579	T>N		No	ClinGen gnomAD
CA6175440 rs150243335	580	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA6175441 rs138910593	581	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA381780276 rs138910593	581	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750448491 CA6175443	584	S>N		No	ClinGen ExAC gnomAD
CA381780317 rs1468953485	587	Q>*		No	ClinGen gnomAD
CA6175444 rs756087040	589	P>T		No	ClinGen ExAC
CA6175445 rs766135378	590	H>N		No	ClinGen ExAC gnomAD
rs753591494 CA6175464	592	A>T		No	ClinGen ExAC TOPMed gnomAD
rs751991718 CA6175466	594	V>I		No	ClinGen ExAC TOPMed gnomAD
CA6175467 rs751819707	595	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1464813343 CA381780387	596	A>D		No	ClinGen TOPMed
CA381780382 rs1217029703	596	A>T		No	ClinGen TOPMed gnomAD
CA381780388 rs1444911780	597	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA381780398 rs1368475479	598	A>G		No	ClinGen TOPMed gnomAD
rs1191865238 CA381780394	598	A>T		No	ClinGen TOPMed gnomAD
rs1368475479 CA381780399	598	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	600	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6175471 rs200865441	602	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6175473 COSM545069 rs142770133	603	G>R	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1424465986 CA381780434	603	G>V		No	ClinGen gnomAD
rs1289808472 CA381780437	604	S>G		No	ClinGen gnomAD
CA6175474 rs769127298	604	S>N		No	ClinGen ExAC gnomAD
rs1341098379 CA381780453	606	M>T		No	ClinGen gnomAD
rs774820886 CA6175475	606	M>V		No	ClinGen ExAC TOPMed gnomAD
rs771800342 CA6175478	609	V>L		No	ClinGen ExAC gnomAD
CA6175477 rs771800342	609	V>M		No	ClinGen ExAC gnomAD
rs1159876668 CA381780476	610	D>N		No	ClinGen Ensembl
CA381780492 rs1240675372	612	G>S		No	ClinGen gnomAD
CA6175479 rs760194771	613	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1484692802 CA381780514	615	V>I		No	ClinGen gnomAD

No associated diseases with Q8NAA4

10 regional properties for Q8NAA4

Type	Name	Position	InterPro Accession
repeat	WD40 repeat	325 - 365	IPR001680-1
repeat	WD40 repeat	369 - 489	IPR001680-2
repeat	WD40 repeat	492 - 530	IPR001680-3
repeat	WD40 repeat	535 - 619	IPR001680-4
domain	Autophagy-related protein 16 domain	17 - 207	IPR013923
conserved_site	WD40 repeat, conserved site	351 - 365	IPR019775-1
conserved_site	WD40 repeat, conserved site	563 - 577	IPR019775-2
repeat	G-protein beta WD-40 repeat	351 - 365	IPR020472-1
repeat	G-protein beta WD-40 repeat	437 - 451	IPR020472-2
repeat	G-protein beta WD-40 repeat	476 - 490	IPR020472-3

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytosol	Localizes also to discrete punctae along the ciliary axoneme
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

5 GO annotations of cellular component

Name	Definition
Atg12-Atg5-Atg16 complex	A protein complex required for the expansion of the autophagosomal membrane. In budding yeast, this complex consists of Atg12p, Atg5p and Atg16p.
autophagosome membrane	The lipid bilayer surrounding an autophagosome, a double-membrane-bounded vesicle in which endogenous cellular material is sequestered.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
phagophore assembly site membrane	A cellular membrane associated with the phagophore assembly site.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

4 GO annotations of biological process

Name	Definition
autophagosome assembly	The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm.
negative stranded viral RNA replication	A viral genome replication process where the template genome is negative stranded, single stranded RNA ((-)ssRNA).
protein lipidation	The covalent attachment of lipid groups to an amino acid in a protein.
protein transport	The directed movement of proteins into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q676U5	ATG16L1	Autophagy-related protein 16-1	Homo sapiens (Human)	PR
Q8C0J2	Atg16l1	Autophagy-related protein 16-1	Mus musculus (Mouse)	PR
Q6KAU8	Atg16l2	Protein Atg16l2	Mus musculus (Mouse)	PR
Q09406	atg-16.2	Autophagic-related protein 16.2	Caenorhabditis elegans	PR

10	20	30	40	50	60
MAGPGVPGAP	AARWKRHIVR	QLRLRDRTQK	ALFLELVPAY	NHLLEKAELL	DKFSKKLQPE
70	80	90	100	110	120
PNSVTPTTHQ	GPWEESELDS	DQVPSLVALR	VKWQEEEEGL	RLVCGEMAYQ	VVEKGAALGT
130	140	150	160	170	180
LESELQQRQS	RLAALEARVA	QLREARAQQA	QQVEEWRAQN	AVQRAAYEAL	RAHVGLREAA
190	200	210	220	230	240
LRRLQEEARD	LLERLVQRKA	RAAAERNLRN	ERRERAKQAR	VSQELKKAAK	RTVSISEGPD
250	260	270	280	290	300
TLGDGMRERR	ETLALAPEPE	PLEKEACEKW	KRPFRSASAT	SLTLSHCVDV	VKGLLDFKKR
310	320	330	340	350	360
RGHSIGGAPE	QRYQIIPVCV	AARLPTRAQD	VLDAHLSEVN	AVRFGPNSSL	LATGGADRLI
370	380	390	400	410	420
HLWNVVGSRL	EANQTLEGAG	GSITSVDFDP	SGYQVLAATY	NQAAQLWKVG	EAQSKETLSG
430	440	450	460	470	480
HKDKVTAAKF	KLTRHQAVTG	SRDRTVKEWD	LGRAYCSRTI	NVLSYCNDVV	CGDHIIISGH
490	500	510	520	530	540
NDQKIRFWDS	RGPHCTQVIP	VQGRVTSLSL	SHDQLHLLSC	SRDNTLKVID	LRVSNIRQVF
550	560	570	580	590	600
RADGFKCGSD	WTKAVFSPDR	SYALAGSCDG	ALYIWDVDTG	KLESRLQGPH	CAAVNAVAWC
610
YSGSHMVSVD	QGRKVVLWQ