AiPD: Autoinhibited Protein Database

Q7Z2W4

Gene name	ZC3HAV1
Protein name	Zinc finger CCCH-type antiviral protein 1
Names	ADP-ribosyltransferase diphtheria toxin-like 13, ARTD13, Inactive Poly [ADP-ribose] polymerase 13, PARP13, Zinc finger CCCH domain-containing protein 2, Zinc finger antiviral protein, ZAP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56829
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

226-425 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

226-425 (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

7 structures for Q7Z2W4

Entry ID	Method	Resolution	Chain	Position	Source
2X5Y	X-ray	105 A	A	724-896	PDB
4X52	X-ray	208 A	A/B/C/D	726-896	PDB
6UEI	X-ray	251 A	A	2-227	PDB
6UEJ	X-ray	221 A	A	2-227	PDB
7KZH	X-ray	249 A	A	498-699	PDB
7TGQ	X-ray	200 A	A	498-699	PDB
AF-Q7Z2W4-F1	Predicted				AlphaFoldDB

662 variants for Q7Z2W4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA167174980 rs1031715619	4	P>A		No	ClinGen gnomAD
rs1031715619 CA369397097	4	P>S		No	ClinGen gnomAD
CA167174960 rs904347097	5	E>D		No	ClinGen Ensembl
rs762158348 CA4507976	5	E>K		No	ClinGen ExAC gnomAD
rs1584881277 CA369397072	6	V>G		No	ClinGen Ensembl
rs1017967617 CA167174956	6	V>L		No	ClinGen TOPMed
CA4507975 rs751872093	7	C>G		No	ClinGen ExAC gnomAD
CA4507974 rs113181006	8	C>G		No	ClinGen ExAC gnomAD
CA167174946 rs113181006	8	C>R		No	ClinGen ExAC gnomAD
CA369397031 rs1311019744	9	F>L		No	ClinGen TOPMed
CA4507973 rs762533295	16	A>S		No	ClinGen ExAC gnomAD
CA369396854 rs1297444580	16	A>V		No	ClinGen gnomAD
CA369396833 rs1397922493	17	H>Q		No	ClinGen gnomAD
CA4507971 rs769396100	18	G>E		No	ClinGen ExAC gnomAD
rs775024004 CA4507972 COSM484916	18	G>R	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs759165366 COSM3411644 CA4507970	20	R>H	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA369396775 rs1584881221	20	R>S		No	ClinGen Ensembl
CA4507969 rs776706516	22	A>T		No	ClinGen ExAC TOPMed gnomAD
CA167174912 rs372284348	24	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA369396672 rs1238185422	25	A>S		No	ClinGen TOPMed
CA167174910 rs755060863	25	A>V		No	ClinGen Ensembl
rs1180270379 CA369396591	28	Q>*		No	ClinGen TOPMed
rs1265767406 CA369396549	29	E>D		No	ClinGen gnomAD
CA369396504 rs1410456503	31	A>S		No	ClinGen TOPMed
TCGA novel	31	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254400859 CA369396448	34	E>*		No	ClinGen gnomAD
CA369396422 rs1563145327	35	P>L		No	ClinGen Ensembl
rs557413442 CA4507966	37	L>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1312784242 CA369396338	38	C>S		No	ClinGen gnomAD
rs749443380 CA4507965	39	E>D		No	ClinGen ExAC gnomAD
rs1277529416 CA369396318	39	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA167174855 rs1051439741	42	Q>R		No	ClinGen gnomAD
rs1455619889 CA369396178	44	A>V		No	ClinGen TOPMed
TCGA novel	45	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1398858915 CA369396138	47	D>H		No	ClinGen gnomAD
CA369396117 rs1170656649	48	R>C		No	ClinGen gnomAD
CA369396113 rs1477110553	48	R>H		No	ClinGen gnomAD
CA4507960 rs781608995	53	E>D		No	ClinGen ExAC gnomAD
rs757772140 CA4507959	54	T>A		No	ClinGen ExAC TOPMed gnomAD
CA4507957 rs764396191	55	G>R		No	ClinGen ExAC TOPMed gnomAD
CA369395961 rs1196739916	57	E>K		No	ClinGen gnomAD
rs758835790 CA4507956	59	G>R		No	ClinGen ExAC TOPMed gnomAD
rs752268877 CA4507955	61	T>P		No	ClinGen ExAC gnomAD
rs765049408 CA4507954	62	R>*		No	ClinGen ExAC gnomAD
rs1222341625 CA369395890	62	R>L		No	ClinGen gnomAD
rs1288176822 CA369395887	63	S>A		No	ClinGen TOPMed
TCGA novel	63	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369395862 rs1375569595	65	V>A		No	ClinGen gnomAD
CA167174800 rs941557146	69	R>*		No	ClinGen Ensembl
rs941557146 CA369395833	69	R>G		No	ClinGen Ensembl
CA369395831 rs147408079	69	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA4507952 rs147408079	69	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs868641095 CA167174787	71	R>L		No	ClinGen gnomAD
CA369395817 rs1221500804	71	R>W		No	ClinGen TOPMed
rs766372664 CA4507951	73	C>*		No	ClinGen ExAC gnomAD
CA4507950 rs760563298	75	R>C		No	ClinGen ExAC gnomAD
rs1457750121 CA369395774	75	R>L		No	ClinGen TOPMed gnomAD
CA4507949 rs773245091	77	Y>C		No	ClinGen ExAC gnomAD
CA167174783 rs111525212	79	Q>*		No	ClinGen Ensembl
rs1167238109 CA369395621	79	Q>P		No	ClinGen TOPMed gnomAD
rs1167238109 CA369395620	79	Q>R		No	ClinGen TOPMed gnomAD
CA4507948 rs771745880	80	R>G		No	ClinGen ExAC gnomAD
rs961506123 CA167174775	81	P>S		No	ClinGen TOPMed
CA369395610 rs961506123	81	P>T		No	ClinGen TOPMed
rs775680381 CA4507946	83	D>G		No	ClinGen ExAC TOPMed gnomAD
CA4507947 rs748037252	83	D>N		No	ClinGen ExAC gnomAD
rs748037252 CA369395596	83	D>Y		No	ClinGen ExAC gnomAD
CA4507945 rs770005291	84	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA167174745 rs751625881	87	L>F		No	ClinGen TOPMed
CA369395563 rs1182604021	88	C>G		No	ClinGen TOPMed
TCGA novel	89	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4507940 rs778394094	94	G>D		No	ClinGen ExAC gnomAD
rs758676794 CA4507939	95	R>L		No	ClinGen ExAC gnomAD
CA167174690 rs758676794	95	R>Q		No	ClinGen ExAC gnomAD
CA167174686 rs754401877	97	N>D		No	ClinGen Ensembl
CA4507938 rs753109410	97	N>S		No	ClinGen ExAC gnomAD
CA369395459 rs1376945453	98	Y>C		No	ClinGen gnomAD
rs764924521 CA4507937	99	S>L		No	ClinGen ExAC gnomAD
CA369395412 rs1389079813	101	S>F		No	ClinGen gnomAD
TCGA novel	102	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369395399 rs1425624359	102	E>G		No	ClinGen gnomAD
rs753356975 CA4507935	102	E>Q		No	ClinGen ExAC gnomAD
rs1157038137 CA369395387	103	R>G		No	ClinGen gnomAD
CA4507934 rs765953746	103	R>Q		No	ClinGen ExAC gnomAD
rs1340354099 CA369391832	108	Y>H		No	ClinGen gnomAD
CA4507912 rs546962587	112	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs780093930 CA167165370	114	S>*		No	ClinGen Ensembl
rs906353968 CA167165368	115	E>G		No	ClinGen TOPMed
CA4507911 rs751318114	116	E>D		No	ClinGen ExAC gnomAD
CA369391735 rs1346016330	116	E>G		No	ClinGen gnomAD
rs762787024 CA4507909	121	L>R		No	ClinGen ExAC gnomAD
CA369391642 COSM176938 rs1465015194	125	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs372806726 CA4507907	126	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4507906 rs142788152	127	S>F		No	ClinGen ExAC TOPMed gnomAD
CA369391625 rs1475588108	128	G>R		No	ClinGen gnomAD
CA369391608 rs1184912859	130	N>K		No	ClinGen gnomAD
rs773362502 CA4507905	130	N>S		No	ClinGen ExAC gnomAD
CA369391589 rs1422776735	133	E>K		No	ClinGen TOPMed
rs772417782 CA4507904	136	V>A		No	ClinGen ExAC gnomAD
CA369391556 rs940302061	138	L>F		No	ClinGen TOPMed gnomAD
rs940302061 CA167165343	138	L>V		No	ClinGen TOPMed gnomAD
rs1363033923	145	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369391488 rs1283686587	147	P>L		No	ClinGen gnomAD
rs1446048661 CA369391485	148	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1225468278 CA369390925	149	I>V		No	ClinGen gnomAD
rs1374714592 CA369390912	150	C>R		No	ClinGen gnomAD
rs767609872 CA4507887	151	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1283838244 CA369390836	155	G>E		No	ClinGen TOPMed
CA4507886 rs762039015	157	G>S		No	ClinGen ExAC gnomAD
CA369390800 rs1321335994	158	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1448438 rs774990430 CA4507885	158	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA369390786 rs1385487784	159	Q>L		No	ClinGen gnomAD
CA4507882 rs144121566	160	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1204521288 CA369390764	161	I>V		No	ClinGen TOPMed
CA369390730 rs1584862008	163	N>T		No	ClinGen Ensembl
CA167163589 rs948471243	166	P>L		No	ClinGen TOPMed gnomAD
rs376619498 CA4507881	167	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA167163580 rs946660335	170	R>S		No	ClinGen TOPMed
rs1180923635 CA369390620	171	L>P		No	ClinGen TOPMed
CA369390597 rs1287444758	173	I>V		No	ClinGen TOPMed gnomAD
CA369390557 rs752035553	175	D>E		No	ClinGen ExAC TOPMed gnomAD
CA369390569 rs1292823143	175	D>N		No	ClinGen gnomAD
rs1351666678 CA578622510	176	H>*		No	ClinGen gnomAD
CA167163574 rs913776135	176	H>Q		No	ClinGen TOPMed
CA369390506 rs1224338169	179	R>Q		No	ClinGen gnomAD
rs1563135593 CA369390501	180	G>R		No	ClinGen Ensembl
rs202245976 CA4507876	183	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369390449 rs1297240431	183	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752393493 CA4507875	186	N>S		No	ClinGen ExAC TOPMed gnomAD
CA4507874 rs752393493	186	N>T		No	ClinGen ExAC TOPMed gnomAD
rs1159185212 CA369390373	189	R>G		No	ClinGen TOPMed gnomAD
rs1159185212 CA369390371	189	R>W	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA167163563 rs760499788	192	N>K		No	ClinGen gnomAD
rs1459411713 CA369390316	193	L>P		No	ClinGen gnomAD
CA369390286 rs1425115120	195	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA167163559 rs200626900	196	R>K		No	ClinGen 1000Genomes
CA4507872 rs143234647	197	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs927723569 CA167163557	198	V>L		No	ClinGen TOPMed gnomAD
CA369390223 rs1487428910	200	A>D		No	ClinGen gnomAD
CA369390209 rs1311629263	201	I>M		No	ClinGen TOPMed gnomAD
CA369390215 rs1216606368	201	I>V		No	ClinGen gnomAD
CA369390199 rs1299145475	202	M>R		No	ClinGen gnomAD
CA369390201 rs1299145475	202	M>T		No	ClinGen gnomAD
rs1225233440 CA369390190	203	R>K		No	ClinGen gnomAD
TCGA novel	203	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4507870 rs374920344	204	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM242310 rs370273772 CA4507869	205	H>Y	prostate [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1363636713 CA369390170	206	G>R		No	ClinGen gnomAD
rs763589247 CA4507866	210	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs551302731 CA369390139	211	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551302731 CA4507864	211	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746278032 CA4507863	216	Q>*		No	ClinGen ExAC gnomAD
TCGA novel	217	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4507862 rs770574459	218	I>L		No	ClinGen ExAC gnomAD
rs770574459 CA4507861	218	I>V		No	ClinGen ExAC gnomAD
CA369390076 rs1427049153	220	N>D		No	ClinGen gnomAD
CA369390039 rs1264151964	224	M>I		No	ClinGen gnomAD
rs1486073149 CA369390045	224	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA369390040 rs1242907635	224	M>R		No	ClinGen gnomAD
CA369390044 rs1486073149	224	M>V		No	ClinGen TOPMed gnomAD
CA4507860 rs746472160	225	Q>K		No	ClinGen ExAC gnomAD
rs962327907 CA167163536	228	P>S		No	ClinGen TOPMed gnomAD
CA369390006 rs1205546184	229	P>S		No	ClinGen gnomAD
CA167163533 rs978329034	230	G>A		No	ClinGen Ensembl
rs777295020 CA4507859	231	P>S		No	ClinGen ExAC gnomAD
CA369389997 rs777295020	231	P>T		No	ClinGen ExAC gnomAD
CA167162327 rs868707926	234	P>F		No	ClinGen Ensembl
TCGA novel	234	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1417476372 CA369388370	234	P>L		No	ClinGen TOPMed
rs1331305820	236	S>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA4507830 rs747676639	237	H>R		No	ClinGen ExAC TOPMed gnomAD
rs771555470 CA4507831	237	H>Y		No	ClinGen ExAC gnomAD
rs778841555 CA4507829	238	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768487648 CA4507828	238	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	239	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4507827 rs749059082	241	M>L		No	ClinGen ExAC gnomAD
rs780029396 CA4507826	241	M>T		No	ClinGen ExAC gnomAD
CA369388323 rs1290255078	242	A>S		No	ClinGen gnomAD
CA167162316 rs1053742955	243	Y>C		No	ClinGen TOPMed
rs913504690 CA167162321	243	Y>H		No	ClinGen Ensembl
rs530474912 CA4507824	244	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs935993514 CA167162307	246	R>T		No	ClinGen Ensembl
CA4507822 rs200555565	249	S>G		No	ClinGen ExAC TOPMed gnomAD
rs200555565 CA4507823	249	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1367089269 CA369388258	252	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4507820 CA369388247 rs373894332	253	F>L		No	ClinGen ESP ExAC gnomAD
rs1209039272 CA369388241	254	F>C		No	ClinGen TOPMed gnomAD
CA4507818 rs754382370	255	Q>R		No	ClinGen ExAC gnomAD
CA4507817 rs766705647	256	G>C		No	ClinGen ExAC gnomAD
CA369388224 rs1289080288	257	S>G		No	ClinGen Ensembl
TCGA novel	257	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369388192 rs1325951244	261	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1359266674 CA369388190	261	L>P		No	ClinGen TOPMed
CA369388185 rs761084907	262	A>E		No	ClinGen ExAC gnomAD
rs761084907 CA4507816	262	A>V		No	ClinGen ExAC gnomAD
rs376879495 CA4507814	266	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4507813 rs376879495	266	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA369388154 rs1371213275	268	A>P		No	ClinGen TOPMed gnomAD
rs145812367 CA4507811	270	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369388133 rs1584858943	271	S>A		No	ClinGen Ensembl
CA369388130 rs1305244532	271	S>F		No	ClinGen gnomAD
CA4507810 rs749153361	273	T>I		No	ClinGen ExAC gnomAD
CA369388111 rs1428880068	274	P>L		No	ClinGen gnomAD
rs1360055255 CA369388116	274	P>S		No	ClinGen gnomAD
rs541917698 CA4507809	276	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs769701197 CA4507808	277	D>V		No	ClinGen ExAC gnomAD
rs745725877 CA4507807	278	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA369388079 rs1198034281	279	I>T		No	ClinGen gnomAD
rs778075896 CA4507806	282	R>G		No	ClinGen ExAC gnomAD
CA369388052 rs1188489550	283	A>S		No	ClinGen TOPMed
CA4507805 rs376183323	285	L>Q		No	ClinGen ESP ExAC TOPMed
CA369388035 rs1182568775	286	E>G		No	ClinGen TOPMed
rs748210844 CA4507804	286	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs144037325 CA4507802	288	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4507801 rs116723178	288	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1223414545 CA369388011	290	V>L		No	ClinGen gnomAD
rs750796740 CA4507798	292	D>H		No	ClinGen ExAC TOPMed gnomAD
rs750796740 CA369387983	292	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4507796 rs761400535	294	T>S		No	ClinGen ExAC gnomAD
COSM1086092 CA4507795 rs149863045	295	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA4507793 rs138485120	295	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138485120 CA4507794	295	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4507792 rs775565246	296	K>T		No	ClinGen ExAC gnomAD
rs906298178 CA167162230	297	F>V		No	ClinGen Ensembl
rs745601147 CA369387913	298	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4507790 rs745601147	298	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1221213107 CA369387884	301	G>R		No	ClinGen Ensembl
CA369387854 rs1477337909	303	Q>L		No	ClinGen gnomAD
rs776313383 CA4507789	304	D>Y		No	ClinGen ExAC gnomAD
rs373433912 CA167162223	305	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4507787 rs372920712	305	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4507788 rs373433912	305	R>S		No	ClinGen ExAC TOPMed gnomAD
CA167162209 rs780478917	306	A>P		No	ClinGen ExAC TOPMed gnomAD
rs780478917 CA4507784	306	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4507783 rs780478917	306	A>T		No	ClinGen ExAC TOPMed gnomAD
CA369387813 rs1322045647	306	A>V		No	ClinGen gnomAD
CA4507781 COSM1086091 rs750743161	307	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs756632011 CA4507782	307	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4507780 rs767745459	308	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4507779 rs757693893	309	P>A		No	ClinGen ExAC TOPMed
rs150932310 CA4507774	312	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4507776 rs762486862	312	S>P		No	ClinGen ExAC gnomAD
CA4507775 rs150932310	312	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA369387719 rs1464932416	314	K>R		No	ClinGen gnomAD
rs142490389 CA4507772	316	T>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1475536637 CA369387564	320	G>E		No	ClinGen gnomAD
rs746886452 CA4507770	321	T>A		No	ClinGen ExAC gnomAD
CA369387551 rs1181233523	321	T>R		No	ClinGen gnomAD
rs911473187 CA167162159	324	A>D		No	ClinGen TOPMed
rs375990788 CA4507767	325	G>R		No	ClinGen ESP ExAC gnomAD
CA369387462 rs1204834293	326	T>R		No	ClinGen gnomAD
CA4507765 rs535589363	327	S>N		No	ClinGen ExAC gnomAD
CA167162142 rs943322783	328	Q>P		No	ClinGen gnomAD
CA369387436 rs943322783	328	Q>R		No	ClinGen gnomAD
TCGA novel	332	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4507764 rs746355497	333	N>S		No	ClinGen ExAC TOPMed gnomAD
rs751959091 CA4507761	334	G>D		No	ClinGen ExAC TOPMed gnomAD
COSM1233223 rs751252008 CA4507762	334	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA369387221 rs369685299	338	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs919083237 CA167162129	338	D>H		No	ClinGen gnomAD
rs919083237 CA369387240	338	D>N		No	ClinGen gnomAD
rs978185745 CA167162126	339	L>F		No	ClinGen TOPMed
CA369387169 rs1412653793	341	H>R		No	ClinGen gnomAD
rs200536591 CA4507757	343	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA167162123 rs765498370	345	G>R		No	ClinGen Ensembl
CA369387088 rs1445971488	346	S>N		No	ClinGen gnomAD
rs759175197 CA4507756	347	T>P		No	ClinGen ExAC gnomAD
rs980425112 CA167162119	350	A>V		No	ClinGen gnomAD
rs1470069186 CA369386934	355	S>P		No	ClinGen gnomAD
CA4507755 rs753713164	356	A>S		No	ClinGen ExAC gnomAD
CA167162114 rs966761719	356	A>V		No	ClinGen TOPMed
rs139577861 CA4507754	357	P>A		No	ClinGen ESP ExAC gnomAD
rs139577861 CA167162110	357	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA167162101 rs372280660	358	N>K		No	ClinGen ESP TOPMed gnomAD
rs760326186 CA4507753	358	N>S		No	ClinGen ExAC gnomAD
rs1361741610 CA369386808	361	S>N		No	ClinGen gnomAD
rs1563133816 CA369386778	362	L>P		No	ClinGen Ensembl
CA4507750 rs763127379	363	T>I		No	ClinGen ExAC
CA4507749 rs775741444	364	S>Y		No	ClinGen ExAC gnomAD
rs769854517 CA4507748	366	T>M		No	ClinGen ExAC TOPMed gnomAD
CA4507747 rs746031366	367	N>S		No	ClinGen ExAC gnomAD
rs781488748 CA4507746	369	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4507745 rs771482941	369	Q>L		No	ClinGen ExAC gnomAD
CA4507744 rs747287925	370	G>D		No	ClinGen ExAC gnomAD
CA4507742 rs554568246	371	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs778772797 CA4507740	374	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1470737642 CA369386552	375	T>S		No	ClinGen gnomAD
CA369386540 rs1197603552	376	V>L		No	ClinGen gnomAD
CA369386519 rs1490904087	377	F>Y		No	ClinGen TOPMed gnomAD
rs1195701070	379	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4507738 rs753401504	380	T>K		No	ClinGen ExAC TOPMed gnomAD
CA4507739 rs753401504	380	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1292704327 CA369386466	380	T>P		No	ClinGen gnomAD
CA4507734 rs140539997	384	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs149380844 CA4507733 COSM326905	385	R>C	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs115288744 CA4507732	385	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149380844 CA369386375	385	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345765798 CA369386333	386	S>F		No	ClinGen gnomAD
rs371539005 CA4507730	391	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA369386171 rs1161971009	394	P>L		No	ClinGen gnomAD
rs771304609 CA4507728	398	T>N		No	ClinGen ExAC gnomAD
rs1481596670 CA369386067	399	T>I		No	ClinGen gnomAD
rs748527282 CA4507724	403	T>S		No	ClinGen ExAC gnomAD
CA4507722 rs754678448	410	Y>C		No	ClinGen ExAC gnomAD
CA167162007 rs890417827	411	R>S		No	ClinGen TOPMed gnomAD
rs374328599 CA4507721	412	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA369385847 rs1261112749	414	N>D		No	ClinGen TOPMed gnomAD
rs370624706 CA4507720	414	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1433861125 CA369385789	417	S>R		No	ClinGen gnomAD
TCGA novel	418	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1294449740 CA369385721	421	D>G		No	ClinGen gnomAD
CA369385667 CA167161992 rs929363583	423	Q>H		No	ClinGen TOPMed gnomAD
rs1288935896 CA369385654	424	P>L		No	ClinGen gnomAD
CA4507719 rs755625154	426	P>L		No	ClinGen ExAC gnomAD
CA369385607 rs1406025720	427	L>P		No	ClinGen gnomAD
CA167161986 rs919126948	428	F>S		No	ClinGen Ensembl
rs1335275202 CA369385585	429	N>D		No	ClinGen gnomAD
rs750365070 CA4507718	430	N>D		No	ClinGen ExAC gnomAD
rs150617365 CA4507717	431	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs756983309 CA167161976	432	A>P		No	ClinGen ExAC TOPMed gnomAD
rs756983309 CA4507716	432	A>T		No	ClinGen ExAC TOPMed gnomAD
rs751373341 CA4507715	436	A>P		No	ClinGen ExAC gnomAD
rs559759408 CA4507712	439	I>T		No	ClinGen ExAC TOPMed gnomAD
CA4507713 rs759834356	439	I>V		No	ClinGen ExAC gnomAD
rs1241231409 CA369385426	440	T>A		No	ClinGen gnomAD
rs1205449387 COSM599408 CA369385408	441	S>F	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs766461269 CA4507711	442	T>S		No	ClinGen ExAC gnomAD
TCGA novel	443	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376101521 CA4507710	443	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1622413 CA369385279 rs1224868861	452	S>G	liver [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1244646378 CA369385249	453	G>A		No	ClinGen TOPMed gnomAD
rs1244646378 CA369385252	453	G>D		No	ClinGen TOPMed gnomAD
rs773786419 CA4507709	453	G>S		No	ClinGen ExAC TOPMed gnomAD
CA369385228 rs1313616467	454	H>Q		No	ClinGen TOPMed gnomAD
CA369385217 rs1403439859	455	R>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	456	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369385169 rs1297972005	457	I>M		No	ClinGen gnomAD
rs772718618 CA4507708	460	P>R		No	ClinGen ExAC gnomAD
rs1210520520 CA369385086	463	Q>*		No	ClinGen TOPMed
rs748473964 CA4507707	465	A>T		No	ClinGen ExAC gnomAD
rs774883932 CA4507706 COSM1187452	466	G>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs768937593 CA4507705	467	P>T		No	ClinGen ExAC gnomAD
CA369384959 rs1249645814	470	R>*		No	ClinGen TOPMed gnomAD
CA4507703 rs779627291	470	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4507702 rs530439298	471	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs138786712 CA167161920	471	D>G		No	ClinGen 1000Genomes gnomAD
rs1584858207 CA369384952	471	D>N		No	ClinGen Ensembl
CA369384931 rs138786712	471	D>V		No	ClinGen 1000Genomes gnomAD
CA369384919 rs1221256091	472	V>D		No	ClinGen gnomAD
rs1316531631 CA369384904	473	Q>R		No	ClinGen gnomAD
rs568024631 CA4507701	474	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1163684849 CA369384871	475	T>P		No	ClinGen TOPMed
CA4507699 rs751316250	478	I>M		No	ClinGen ExAC TOPMed gnomAD
CA369384785 rs763920467	479	A>S		No	ClinGen ExAC TOPMed gnomAD
rs763920467 CA4507697	479	A>T		No	ClinGen ExAC TOPMed gnomAD
rs78353839 CA4507695	481	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4507696 rs758177938	481	D>N		No	ClinGen ExAC gnomAD
rs78353839 CA369384731	481	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4507693 rs760749474	485	R>G		No	ClinGen ExAC gnomAD
VAR_018454 rs2236426 CA4507692	485	R>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA369384653 rs2236426	485	R>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1458421588 CA369384630	487	A>T		No	ClinGen gnomAD
rs140606352 CA4507691	489	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4507689 rs775045266	490	N>S		No	ClinGen ExAC TOPMed gnomAD
CA369384553 rs1198325818	491	D>N		No	ClinGen TOPMed gnomAD
CA369383042 rs1287783083	491	D>V		No	ClinGen gnomAD
rs765974927 CA4507628	495	D>N		No	ClinGen ExAC TOPMed gnomAD
CA369382958 rs1323090774	499	T>A		No	ClinGen gnomAD
rs772963065 CA4507626	500	T>A		No	ClinGen ExAC TOPMed gnomAD
rs761449560 CA4507624	502	S>F		No	ClinGen ExAC gnomAD
CA4507623 rs774360949	504	V>G		No	ClinGen ExAC TOPMed gnomAD
CA167161469 rs758162800	505	D>G		No	ClinGen TOPMed gnomAD
CA4507622 rs201412553	505	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1474446968 CA369382877	506	D>H		No	ClinGen gnomAD
rs1180888279 CA369382846	508	D>N		No	ClinGen TOPMed
TCGA novel	510	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754098188 CA167161463	512	I>V		No	ClinGen Ensembl
rs1194112477 CA369382735	514	L>R		No	ClinGen TOPMed
CA369382713 rs1261015263	515	D>E		No	ClinGen TOPMed gnomAD
rs747177569 CA4507618	517	L>M		No	ClinGen ExAC gnomAD
rs778116152 CA4507617	518	C>R		No	ClinGen ExAC TOPMed gnomAD
CA369382661 rs1294347020	518	C>Y		No	ClinGen gnomAD
rs565550945 CA369382632	520	G>C		No	ClinGen 1000Genomes ExAC gnomAD
rs565550945 CA4507615	520	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs143317430 CA4507613	522	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748184784 CA369381953	525	G>A		No	ClinGen ExAC TOPMed gnomAD
rs748184784 CA4507598	525	G>D		No	ClinGen ExAC TOPMed gnomAD
CA369381950 rs1372566338	526	S>G		No	ClinGen TOPMed gnomAD
CA369381951 rs1372566338	526	S>R		No	ClinGen TOPMed gnomAD
CA4507597 rs778932560	528	S>N		No	ClinGen ExAC gnomAD
CA167160709 rs893829525	529	K>N		No	ClinGen gnomAD
rs1563132230 CA369381909	531	H>Q		No	ClinGen Ensembl
rs1563132235 CA369381913	531	H>Y		No	ClinGen Ensembl
CA167160703 rs750837115	536	Y>*		No	ClinGen Ensembl
rs749777596 CA4507595	537	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768772866 CA4507596	537	R>W		No	ClinGen ExAC TOPMed gnomAD
CA369381849 rs1221511410	540	M>I		No	ClinGen TOPMed
CA4507594 rs192061967	540	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs901272075 CA167160693	540	M>V		No	ClinGen TOPMed gnomAD
rs553547356 CA4507593	541	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369381834 rs1252026163	543	G>S		No	ClinGen gnomAD
rs376190046 CA4507592	544	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA167160677 rs374071219	547	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4507590 rs374071219	547	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs776212944 CA4507588	549	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1408323488 CA369381780	550	E>D		No	ClinGen gnomAD
CA4507587 rs762610651	550	E>G		No	ClinGen ExAC gnomAD
CA369381761 rs1355764025	553	E>Q		No	ClinGen Ensembl
rs752678784 CA4507586	554	T>M		No	ClinGen ExAC TOPMed gnomAD
CA167160648 rs770670780	555	I>M		No	ClinGen ExAC TOPMed gnomAD
rs776518707 CA4507583	555	I>V		No	ClinGen ExAC TOPMed gnomAD
CA369381742 rs1406065020	556	E>K		No	ClinGen TOPMed
CA369381735 rs1295279834	557	K>E		No	ClinGen gnomAD
rs373103348 CA4507580	558	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA369381695 rs1279875494	562	P>L		No	ClinGen TOPMed
rs760113819 CA167160642	562	P>S		No	ClinGen TOPMed gnomAD
CA369381694 rs1198216463	563	G>R		No	ClinGen TOPMed gnomAD
rs977163852 CA369381682	564	I>M		No	ClinGen gnomAD
VAR_018455 CA4507576 rs2297241 CA369381676	565	H>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs571328030 CA4507577	565	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA4507575 rs746180824	566	L>V		No	ClinGen ExAC TOPMed gnomAD
CA369381344 rs1399979131	567	C>S		No	ClinGen TOPMed
CA369381332 rs1563131216	568	S>Y		No	ClinGen Ensembl
CA369381318 rs1365760322	569	V>A		No	ClinGen gnomAD
CA369381314 rs1407598279	570	G>R		No	ClinGen TOPMed
rs769805444 CA4507555	572	Y>D		No	ClinGen ExAC TOPMed
rs777062580 CA4507553	573	T>A		No	ClinGen ExAC gnomAD
rs1276651704 CA369381272	573	T>R		No	ClinGen gnomAD
CA4507552 rs150148096	574	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1187300879 CA369381256	575	N>S		No	ClinGen TOPMed gnomAD
rs140395760 CA4507549	577	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144346512 CA4507550	577	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA369381223 rs1461861119	578	V>G		No	ClinGen TOPMed
CA369381211 rs1281055883	579	M>I		No	ClinGen gnomAD
rs1441020851 CA369381216	579	M>T		No	ClinGen gnomAD
rs778461468 CA4507547	580	S>N		No	ClinGen ExAC TOPMed gnomAD
CA369381194 rs1421034168	580	S>R		No	ClinGen TOPMed
TCGA novel	581	C>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341631282 CA369381170	582	D>V		No	ClinGen gnomAD
CA369381161 rs1183740167	583	S>F		No	ClinGen TOPMed
rs1230633481 CA369381141	584	F>L		No	ClinGen gnomAD
CA4507546 rs150562494	584	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	586	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369381122 rs1283481569	587	R>*		No	ClinGen TOPMed gnomAD
CA369381120 rs1445588802	587	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	588	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs572573665 CA4507543	590	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs1334466058 CA369381100	591	T>A		No	ClinGen gnomAD
rs1334466058 CA369381099	591	T>P		No	ClinGen gnomAD
rs763897760	594	S>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA167159652 rs142594623	594	S>C		No	ClinGen ESP gnomAD
CA369381073 rs1584854014	595	V>A		No	ClinGen Ensembl
CA369381067 rs1469923360	596	T>I		No	ClinGen TOPMed
CA369381072 rs1584854008	596	T>P		No	ClinGen Ensembl
rs763133395 CA4507539	599	A>D		No	ClinGen ExAC TOPMed
rs140829327 CA4507540	599	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	599	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1429782165 CA369381019	604	T>A		No	ClinGen TOPMed gnomAD
rs375243384 CA4507538	604	T>I		No	ClinGen ESP ExAC gnomAD
CA167159636 rs970204462	606	K>R		No	ClinGen Ensembl
rs777133066 CA4507535	610	Y>N		No	ClinGen ExAC gnomAD
rs992903305 CA167159632	616	G>D		No	ClinGen TOPMed gnomAD
CA369380928 rs992903305	616	G>V		No	ClinGen TOPMed gnomAD
rs1226909125 CA369380913	618	W>C		No	ClinGen TOPMed
CA369380908 rs1285814897	619	I>T		No	ClinGen TOPMed
rs773745564 CA4507532	620	Q>R		No	ClinGen ExAC gnomAD
rs370684084 CA167159619	621	Y>C		No	ClinGen ESP TOPMed gnomAD
CA369380873 rs1254265426	624	E>A		No	ClinGen TOPMed
rs181641415 CA4507511	625	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA4507508 COSM1187451 rs761230891	628	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs141827161 CA4507509	628	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs531212366 CA4507507	630	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	631	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA167194118 rs542589842	631	S>P		No	ClinGen TOPMed gnomAD
rs745793742 CA4507504	633	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4507503 rs781174357 COSM1448433	634	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA369400148 rs1584846922	635	S>P		No	ClinGen Ensembl
TCGA novel	636	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757010358 CA4507502	636	S>A		No	ClinGen ExAC gnomAD
rs1433066815 CA369400108	637	Y>H		No	ClinGen TOPMed
rs1392094065 CA369400087	638	L>V		No	ClinGen TOPMed
rs1189567999 CA369400052	640	S>C		No	ClinGen TOPMed gnomAD
rs1189567999 CA369400049	640	S>F		No	ClinGen TOPMed gnomAD
rs754156642 CA4507498	641	L>V		No	ClinGen ExAC gnomAD
CA369399973 rs1269794599	645	C>R		No	ClinGen gnomAD
CA167194087 rs756129404	645	C>S		No	ClinGen gnomAD
CA4507495 rs750890047	646	P>L		No	ClinGen ExAC gnomAD
rs762188555 CA4507493	647	R>K		No	ClinGen ExAC gnomAD
CA369399888 rs1304880003	649	V>A		No	ClinGen gnomAD
TCGA novel	649	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	650	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4507492 rs774609371	651	P>S		No	ClinGen ExAC gnomAD
rs769102632 CA4507491	654	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	657	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4507489 rs768601088	657	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4507488 rs769290137	658	N>D		No	ClinGen ExAC TOPMed gnomAD
rs745387450 CA4507487	658	N>K		No	ClinGen ExAC TOPMed gnomAD
CA369399734 rs1439990612	660	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1416301794 CA369399707	662	S>N		No	ClinGen gnomAD
CA369399680 rs1395763642	664	Q>R		No	ClinGen gnomAD
rs775058187 CA4507468	671	I>V		No	ClinGen ExAC TOPMed gnomAD
CA4507467 rs764883279	672	A>V		No	ClinGen ExAC
CA4507466 rs146300884	674	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	675	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4507465 rs776154187	676	Q>K		No	ClinGen ExAC gnomAD
rs1250548814 CA369398882	679	V>I		No	ClinGen gnomAD
CA167191890 rs947720690	680	I>N		No	ClinGen Ensembl
rs1277466434 CA369398771	685	F>L		No	ClinGen gnomAD
rs201818853 CA4507463	685	F>L		No	ClinGen ExAC TOPMed gnomAD
CA369398755 rs1239431652	687	P>L		No	ClinGen gnomAD
CA369398724 rs1228787791	689	W>C		No	ClinGen gnomAD
CA369398709 rs1321573502	691	V>M		No	ClinGen gnomAD
rs372154163 CA4507462	693	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764437934 CA167191879	695	K>T		No	ClinGen Ensembl
rs1230341019 CA369398643	696	R>T		No	ClinGen gnomAD
CA4507461 rs771694806	697	G>R		No	ClinGen ExAC gnomAD
rs2297236 CA369397623	701	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_054319 rs2297236 CA4507418	701	Q>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA369397598 rs1282578941	702	P>L		No	ClinGen gnomAD
CA4507417 rs199696836	704	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA369397585 rs1235048254	704	K>Q		No	ClinGen gnomAD
rs772191160 CA4507416	706	S>L		No	ClinGen ExAC gnomAD
CA369397465 rs754247898	712	A>E		No	ClinGen ExAC TOPMed gnomAD
rs191765483 CA4507413	712	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4507412 rs754247898	712	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1214374312 CA369397445	713	T>S		No	ClinGen gnomAD
CA4507411 rs141029907	715	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4507410 COSM1448431 rs148135153	715	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs771785741 CA167188674	716	P>L		No	ClinGen TOPMed gnomAD
rs745403454 CA4507409	717	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	717	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1699428 rs767120888 CA4507408	718	E>K	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA369397361 rs1373990651	718	E>V		No	ClinGen gnomAD
CA4507405 rs764142029	719	D>G		No	ClinGen ExAC gnomAD
CA4507406 rs751477174	719	D>Y		No	ClinGen ExAC gnomAD
rs141845165 CA4507403	720	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216247308 CA369397309	721	C>Y		No	ClinGen gnomAD
rs772137932 CA4507399	725	S>*		No	ClinGen ExAC gnomAD
CA167187928 rs977453602	732	E>G		No	ClinGen Ensembl
TCGA novel	733	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA369396890 rs1346684781	734	H>Y		No	ClinGen TOPMed
rs749789154 CA4507378	736	L>I		No	ClinGen ExAC gnomAD
rs775926377 CA4507377	737	H>R		No	ClinGen ExAC TOPMed gnomAD
CA4507376 rs770127819	742	R>G		No	ClinGen ExAC TOPMed gnomAD
CA369396680 rs1563123512	743	V>I		No	ClinGen Ensembl
rs1003122409 CA167187870	744	S>N		No	ClinGen TOPMed
CA4507375 rs746250062	749	A>T		No	ClinGen ExAC gnomAD
rs1584837397 CA369396489	749	A>V		No	ClinGen Ensembl
TCGA novel	750	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780945445 CA4507374	750	S>P		No	ClinGen ExAC gnomAD
TCGA novel	751	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1470537131 CA369396412	752	K>R		No	ClinGen gnomAD
TCGA novel	753	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	754	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4507372 rs201721838	756	I>M		No	ClinGen 1000Genomes ExAC gnomAD
rs370576444 CA4507373	756	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs201452196 CA167187838	757	E>G		No	ClinGen Ensembl
CA167187829 rs201452196	757	E>V		No	ClinGen Ensembl
CA4507371 rs777402962	758	K>R		No	ClinGen ExAC gnomAD
rs990654313 CA167187818	762	I>T		No	ClinGen Ensembl
rs1207825176 CA369396146	763	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA167187812 rs779096298	767	L>V		No	ClinGen Ensembl
rs757301345 CA167187806	769	D>G		No	ClinGen Ensembl
CA4507369 rs752678086	770	K>E		No	ClinGen ExAC gnomAD
TCGA novel	771	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA167187794 rs997358689	772	T>A		No	ClinGen Ensembl
TCGA novel rs763041405 CA4507344	773	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
CA369395504 rs1345416305	774	K>N		No	ClinGen TOPMed
rs376696476 CA4507343	776	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs13438211 CA4507341	777	Q>H		No	ClinGen ExAC gnomAD
CA167187382 rs1041896099	778	M>I		No	ClinGen gnomAD
rs777338738 CA4507340	778	M>R		No	ClinGen ExAC TOPMed gnomAD
CA167187385 rs544506534	778	M>V		No	ClinGen Ensembl
rs1458989948 CA369395433	780	E>Q		No	ClinGen TOPMed
rs771420015 CA4507339	782	G>E		No	ClinGen ExAC gnomAD
CA369395376 rs1584836781	783	K>N		No	ClinGen Ensembl
rs761129438 CA4507338	785	L>V		No	ClinGen ExAC TOPMed gnomAD
rs373044902 CA4507337	786	F>I		No	ClinGen ESP ExAC gnomAD
CA167187363 rs538987584	787	Y>H		No	ClinGen 1000Genomes
rs1215473102 CA369395317	788	A>E		No	ClinGen gnomAD
rs1215473102 CA369395314	788	A>V		No	ClinGen gnomAD
CA4507335 rs77436247	789	T>K		No	ClinGen ExAC gnomAD
rs1376137967 CA369395290	790	S>R		No	ClinGen gnomAD
rs778262543 CA4507334	791	R>C		No	ClinGen ExAC TOPMed gnomAD
CA369395286 rs778262543	791	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4507333 COSM1086083 rs187388789	791	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4507332 rs749217923	792	A>V		No	ClinGen ExAC TOPMed gnomAD
CA369395261 rs375847014	793	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1170926421 CA369395269	793	Y>D		No	ClinGen gnomAD
rs375847014 CA4507331	793	Y>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA4507329 rs750206388	794	V>L		No	ClinGen ExAC gnomAD
CA4507328 rs778016091	797	I>T		No	ClinGen ExAC gnomAD
rs758519775 CA4507327	798	C>R		No	ClinGen ExAC gnomAD
rs145716414 CA4507326	799	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA167187300 rs145716414	799	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388786019 CA369395163	801	N>H		No	ClinGen TOPMed
CA4507322 rs767010548	805	F>V		No	ClinGen ExAC gnomAD
rs761078215 CA4507321	806	L>R		No	ClinGen ExAC gnomAD
rs372527602 CA4507320	807	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4507319 rs767972022	810	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs368982868 CA4507318	812	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs868542175 CA167187236	815	G>R		No	ClinGen gnomAD
CA369394952 rs1479352557	816	K>R		No	ClinGen TOPMed
CA4507299 rs773815590	817	G>A		No	ClinGen ExAC TOPMed gnomAD
CA369394160 rs1454952793	819	Y>C		No	ClinGen TOPMed gnomAD
rs762409766 CA4507297	820	F>L		No	ClinGen ExAC gnomAD
rs774951736 CA4507296	822	K>N		No	ClinGen ExAC gnomAD
rs891790917 CA167182810	823	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA4507295 rs769345135	824	A>P		No	ClinGen ExAC gnomAD
TCGA novel	824	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1195935317 CA369394096	825	I>V		No	ClinGen gnomAD
rs367685615 CA4507294	826	Y>C		No	ClinGen ESP ExAC gnomAD
rs776701019 CA4507293	828	H>Q		No	ClinGen ExAC gnomAD
rs1002919032 CA167182798	828	H>Y		No	ClinGen TOPMed gnomAD
TCGA novel	830	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1486935291 CA369394022	831	C>S		No	ClinGen gnomAD
rs770566838 CA4507292	832	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs139161769 CA4507289	833	Y>*		No	ClinGen ESP ExAC TOPMed
TCGA novel	834	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1345683594 CA369393977	835	A>D		No	ClinGen gnomAD
CA4507288 COSM1448430 rs375607958	838	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
COSM1568603 rs371159477 CA4507286	839	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA369393892 rs1315877504	840	M>T		No	ClinGen gnomAD
rs1563121299 CA369393862	841	F>L		No	ClinGen Ensembl
CA167182706 rs777433113	842	V>I		No	ClinGen gnomAD
CA4507284 rs781727992	844	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA4507285 rs181282164	844	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA167182704 rs181282164	844	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4507282 rs3735007 VAR_018456	851	T>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4507281 rs764482822	855	I>M		No	ClinGen ExAC gnomAD
CA4507280 rs542431197	856	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1262650181 CA369393618	858	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776377588 CA4507276	860	P>S		No	ClinGen ExAC gnomAD
rs1396856668 CA369393537	863	Q>H		No	ClinGen TOPMed
rs770927065 CA4507275	863	Q>P		No	ClinGen ExAC gnomAD
COSM295865 CA369393519 rs3735008	864	F>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs773115393 CA4507273	865	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4507272 rs772047303	866	S>G		No	ClinGen ExAC gnomAD
CA4507271 rs749513554	867	C>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749513554 CA369393474	867	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA4507270 rs200253491	868	V>A		No	ClinGen ExAC TOPMed gnomAD
CA369393449 rs1329168806	869	D>A		No	ClinGen TOPMed
CA167182563 rs148093298	870	T>A		No	ClinGen 1000Genomes
CA4507269 rs769702561	870	T>I		No	ClinGen ExAC gnomAD
rs141924548 CA4507268	872	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs141924548 CA369393396	872	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA369393388 rs1584831862	873	N>D		No	ClinGen Ensembl
rs560775418 CA167182522	873	N>I		No	ClinGen Ensembl
CA167182507 rs868038766	874	P>S		No	ClinGen Ensembl
CA167182490 rs1004661368	876	V>I		No	ClinGen TOPMed gnomAD
CA369393212 rs1166548742	883	D>H		No	ClinGen TOPMed gnomAD
CA369393214 rs1166548742	883	D>N		No	ClinGen TOPMed gnomAD
rs543176908 CA4507266	885	V>F		No	ClinGen 1000Genomes ExAC gnomAD
rs752110165 CA4507265	886	Y>F		No	ClinGen ExAC gnomAD
rs1187489292 CA369393123	888	Q>K		No	ClinGen gnomAD
rs371565565 CA167182416	894	T>A		No	ClinGen TOPMed gnomAD
rs1188686112 CA369393013	894	T>S		No	ClinGen TOPMed gnomAD
CA369392940 rs1197384524	898	A>G		No	ClinGen gnomAD
CA4507263 rs758830721	898	A>T		No	ClinGen ExAC gnomAD
CA369392917 rs148750088	899	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA4507260 rs758925075	900	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	903	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q7Z2W4

5 regional properties for Q7Z2W4

Type	Name	Position	InterPro Accession
domain	Zinc finger, CCCH-type	173 - 194	IPR000571
domain	WWE domain	594 - 681	IPR004170
domain	Poly(ADP-ribose) polymerase, catalytic domain	716 - 902	IPR012317
domain	ZAP, zinc finger	143 - 170	IPR040954
domain	ZAP, helix turn helix N-terminal domain	5 - 66	IPR041360

Functions

		Description
EC Number
Subcellular Localization	[Isoform 1]: Cytoplasm Nucleus	Localizes in the cytoplasm at steady state, but shuttles between nucleus and cytoplasm in a XPO1-dependent manner
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

3 GO annotations of molecular function

Name	Definition
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
metal ion binding	Binding to a metal ion.
RNA binding	Binding to an RNA molecule or a portion thereof.

10 GO annotations of biological process

Name	Definition
defense response to virus	Reactions triggered in response to the presence of a virus that act to protect the cell or organism.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
negative regulation of viral genome replication	Any process that stops, prevents, or reduces the frequency, rate or extent of viral genome replication.
positive regulation of I-kappaB kinase/NF-kappaB signaling	Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling.
positive regulation of interferon-alpha production	Any process that activates or increases the frequency, rate, or extent of interferon-alpha production.
positive regulation of interferon-beta production	Any process that activates or increases the frequency, rate, or extent of interferon-beta production.
positive regulation of mRNA catabolic process	Any process that increases the rate, frequency, or extent of a mRNA catabolic process, the chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage.
positive regulation of RIG-I signaling pathway	Any process that activates or increases the frequency, rate or extent of RIG-I signaling pathway.
positive regulation of type I interferon production	Any process that activates or increases the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families.
response to virus	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus from a virus.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9NR21	PARP11	Protein mono-ADP-ribosyltransferase PARP11	Homo sapiens (Human)	PR
Q3UPF5	Zc3hav1	Zinc finger CCCH-type antiviral protein 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MADPEVCCFI	TKILCAHGGR	MALDALLQEI	ALSEPQLCEV	LQVAGPDRFV	VLETGGEAGI
70	80	90	100	110	120
TRSVVATTRA	RVCRRKYCQR	PCDNLHLCKL	NLLGRCNYSQ	SERNLCKYSH	EVLSEENFKV
130	140	150	160	170	180
LKNHELSGLN	KEELAVLLLQ	SDPFFMPEIC	KSYKGEGRQQ	ICNQQPPCSR	LHICDHFTRG
190	200	210	220	230	240
NCRFPNCLRS	HNLMDRKVLA	IMREHGLNPD	VVQNIQDICN	SKHMQKNPPG	PRAPSSHRRN
250	260	270	280	290	300
MAYRARSKSR	DRFFQGSQEF	LASASASAER	SCTPSPDQIS	HRASLEDAPV	DDLTRKFTYL
310	320	330	340	350	360
GSQDRARPPS	GSSKATDLGG	TSQAGTSQRF	LENGSQEDLL	HGNPGSTYLA	SNSTSAPNWK
370	380	390	400	410	420
SLTSWTNDQG	ARRKTVFSPT	LPAARSSLGS	LQTPEAVTTR	KGTGLLSSDY	RIINGKSGTQ
430	440	450	460	470	480
DIQPGPLFNN	NADGVATDIT	STRSLNYKST	SSGHREISSP	RIQDAGPASR	DVQATGRIAD
490	500	510	520	530	540
DADPRVALVN	DSLSDVTSTT	SSRVDDHDSE	EICLDHLCKG	CPLNGSCSKV	HFHLPYRWQM
550	560	570	580	590	600
LIGKTWTDFE	HMETIEKGYC	NPGIHLCSVG	SYTINFRVMS	CDSFPIRRLS	TPSSVTKPAN
610	620	630	640	650	660
SVFTTKWIWY	WKNESGTWIQ	YGEEKDKRKN	SNVDSSYLES	LYQSCPRGVV	PFQAGSRNYE
670	680	690	700	710	720
LSFQGMIQTN	IASKTQKDVI	RRPTFVPQWY	VQQMKRGPDH	QPAKTSSVSL	TATFRPQEDF
730	740	750	760	770	780
CFLSSKKYKL	SEIHHLHPEY	VRVSEHFKAS	MKNFKIEKIK	KIENSELLDK	FTWKKSQMKE
790	800	810	820	830	840
EGKLLFYATS	RAYVESICSN	NFDSFLHETH	ENKYGKGIYF	AKDAIYSHKN	CPYDAKNVVM
850	860	870	880	890	900
FVAQVLVGKF	TEGNITYTSP	PPQFDSCVDT	RSNPSVFVIF	QKDQVYPQYV	IEYTEDKACV

IS