AiPD: Autoinhibited Protein Database

Q7Z794

Gene name	KRT77 (KRT1B)
Protein name	Keratin, type II cytoskeletal 1b
Names	Cytokeratin-1B, CK-1B, Keratin-77, K77, Type-II keratin Kb39
Species	Homo sapiens (Human)
KEGG Pathway	hsa:374454
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

512-578 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

512-578 (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 Q7Z794

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q7Z794-F1	Predicted				AlphaFoldDB

564 variants for Q7Z794

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA6587109 rs552221506	2	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA384990501 rs552221506	2	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA384990493 rs1208497914	3	H>R		No	ClinGen gnomAD
CA237289349 rs949842506	4	Q>E		No	ClinGen TOPMed
rs1592276488 CA384990486	4	Q>R		No	ClinGen Ensembl
CA237289326 rs75899990	7	S>Y		No	ClinGen Ensembl
CA384990459 rs1274404774	8	Q>*		No	ClinGen gnomAD
CA6587106 VAR_056022 rs17118224 COSM1362581	10	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6587105 rs767856418	10	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6587103 rs376998734	12	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs745505668 CA6587101	14	M>I		No	ClinGen ExAC gnomAD
CA6587102 COSM940823 rs371763767	14	M>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	15	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1394911813 CA384990408	15	S>R		No	ClinGen TOPMed gnomAD
rs1319847419 CA384990404	16	R>K		No	ClinGen TOPMed gnomAD
rs1319847419 CA384990403	16	R>M		No	ClinGen TOPMed gnomAD
CA384990402 rs776190184	16	R>S		No	ClinGen ExAC gnomAD
CA384990406 rs1314639767	16	R>W		No	ClinGen TOPMed gnomAD
CA6587098 rs559878053	17	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs375217197 CA6587099	17	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs201637186 CA237289262	18	V>A		No	ClinGen TOPMed gnomAD
CA384990393 rs201637186	18	V>G		No	ClinGen TOPMed gnomAD
rs748012329 CA6587095	19	Y>*		No	ClinGen ExAC gnomAD
CA6587096 rs758226801	19	Y>C		No	ClinGen ExAC gnomAD
rs777785967 CA6587097	19	Y>H		No	ClinGen ExAC gnomAD
CA237289227 rs200719250	20	S>I		No	ClinGen gnomAD
CA384990376 rs1208672282	21	T>S		No	ClinGen gnomAD
rs1463886824 CA384990373	22	S>G		No	ClinGen gnomAD
CA384990361 rs1270092909	23	S>F		No	ClinGen TOPMed gnomAD
rs1270092909 CA384990363	23	S>Y		No	ClinGen TOPMed gnomAD
rs778546882 CA6587094	25	A>S		No	ClinGen ExAC gnomAD
rs1344377395 CA384990333	28	G>D		No	ClinGen gnomAD
CA384990332 rs1344377395	28	G>V		No	ClinGen gnomAD
CA6587092 rs754113687	29	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754113687 CA6587093	29	G>V		No	ClinGen ExAC TOPMed gnomAD
CA6587090 rs756278947	30	G>R		No	ClinGen ExAC gnomAD
CA6587088 rs529887183	32	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6587089 rs139240914	32	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6587086 rs752005909	33	A>S		No	ClinGen ExAC gnomAD
CA384990288 rs1413460373	36	S>F		No	ClinGen TOPMed gnomAD
CA384990287 rs1565656030	37	V>M		No	ClinGen Ensembl
rs763236817 CA6587084	38	C>R		No	ClinGen ExAC gnomAD
CA384990272 rs1565656019	39	Y>D		No	ClinGen Ensembl
rs529823573 CA237289157	40	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs760206213 CA6587081	41	R>*		No	ClinGen ExAC TOPMed gnomAD
rs772564369 CA6587080	41	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA237289142 rs1026733742	42	G>E		No	ClinGen TOPMed
CA384990251 rs1409448595	43	R>K		No	ClinGen TOPMed
CA6587077 rs189099278	45	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs111504070 CA6587076	46	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA237289122 rs149726101	48	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs149726101 CA6587075	48	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1302881202 CA384990214	49	Y>C		No	ClinGen TOPMed
rs780448859 CA6587073	50	G>E		No	ClinGen ExAC gnomAD
CA384990194 rs1225977595	52	H>R		No	ClinGen gnomAD
rs1344046533 CA384990176	55	G>R		No	ClinGen TOPMed
rs781111418 CA6587070	56	F>S		No	ClinGen ExAC gnomAD
rs1592276352 CA384990169	56	F>V		No	ClinGen Ensembl
TCGA novel	57	G>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384990140 rs1338213138	60	S>I		No	ClinGen gnomAD
CA237289103 rs371905244	61	L>I		No	ClinGen ESP
rs764602089 CA6587067	62	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA384990131 rs1592276342	62	Y>H		No	ClinGen Ensembl
rs139606582 CA6587066	63	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA384990109 rs1422049738	65	G>A		No	ClinGen gnomAD
CA384990108 rs1422049738	65	G>V		No	ClinGen gnomAD
rs1565655965 CA384990107	66	G>S		No	ClinGen Ensembl
rs1251512724 CA384990100	67	S>G		No	ClinGen gnomAD
rs1270328211 CA384990090	68	R>K		No	ClinGen TOPMed
CA384990082 rs1187642685	69	S>N		No	ClinGen TOPMed gnomAD
CA6587063 rs372099333	69	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA384990078 rs1489800117	70	I>V		No	ClinGen TOPMed
CA6587062 rs772833269	72	I>V		No	ClinGen ExAC gnomAD
TCGA novel	73	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6587061 rs771482193	73	N>Y		No	ClinGen ExAC
CA6587058 rs768668326	75	M>K		No	ClinGen ExAC TOPMed gnomAD
CA384990045 rs768668326	75	M>R		No	ClinGen ExAC TOPMed gnomAD
CA6587059 rs768668326	75	M>T		No	ClinGen ExAC TOPMed gnomAD
CA237289018 rs895772542	76	G>R		No	ClinGen TOPMed
rs1416089070 CA384990036	77	R>G		No	ClinGen TOPMed
CA6587057 rs749127239	78	S>G		No	ClinGen ExAC gnomAD
rs1227684689 CA384990017	79	T>I		No	ClinGen gnomAD
CA384990015 rs1592276277	80	S>G		No	ClinGen Ensembl
rs200889592 CA6587056	80	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs553556926 CA6587055	81	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs746065670 CA6587054	82	F>L		No	ClinGen ExAC gnomAD
CA6587053 rs369487784	83	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356658838 CA384989993	83	C>Y		No	ClinGen gnomAD
CA384989984 rs1405137418	84	Q>H		No	ClinGen gnomAD
CA384989985 rs1364026560	84	Q>R		No	ClinGen TOPMed
rs1412338576 CA384989980	85	G>C		No	ClinGen gnomAD
rs1167711151 CA384989977	85	G>D		No	ClinGen gnomAD
rs143791907 CA6587050	86	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs143791907 CA6587051	86	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA384989969 rs1326830490	87	G>E		No	ClinGen gnomAD
CA384989966 rs1411276999	88	V>L		No	ClinGen gnomAD
rs1384383405 CA384989953	90	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1356902264 CA384989948	91	F>I		No	ClinGen TOPMed
CA384989941 rs1233247160	91	F>L		No	ClinGen TOPMed gnomAD
rs765569339 CA6587047	92	G>R		No	ClinGen ExAC TOPMed gnomAD
CA237288995 rs1038468845	93	G>R		No	ClinGen Ensembl
CA6587046 rs755858617	94	G>D		No	ClinGen ExAC TOPMed gnomAD
rs370354997 CA6587045	95	R>I		No	ClinGen ExAC gnomAD
rs370354997 CA384989922	95	R>T		No	ClinGen ExAC gnomAD
rs574319643 CA6587042	100	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA6587041 rs773875276	101	S>R		No	ClinGen ExAC TOPMed gnomAD
CA237288960 rs889773976	102	T>A		No	ClinGen TOPMed gnomAD
CA384989879 rs1436270957	102	T>N		No	ClinGen gnomAD
CA384989871 rs1328553960	103	G>V		No	ClinGen gnomAD
CA6587038 rs537366207	104	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762962674 CA6587039	104	A>S		No	ClinGen ExAC TOPMed gnomAD
CA384989869 rs762962674	104	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1409057673 CA384989864	105	G>D		No	ClinGen gnomAD
rs745617008 CA6587036	105	G>S		No	ClinGen ExAC gnomAD
CA237288923 rs934236236	106	G>R		No	ClinGen TOPMed gnomAD
rs78374723 CA6587035	109	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771143626 CA6587034	109	G>V		No	ClinGen ExAC TOPMed gnomAD
rs747095755 CA6587033	110	G>R		No	ClinGen ExAC gnomAD
rs1464338300 CA384989824	112	F>Y		No	ClinGen TOPMed gnomAD
CA384989809 rs1266165021	113	G>E		No	ClinGen gnomAD
CA384989792 rs1279867353	115	A>D		No	ClinGen TOPMed
rs777805186 CA6587031	115	A>S		No	ClinGen ExAC gnomAD
rs934846785 CA237288870	116	G>E		No	ClinGen Ensembl
rs758959331 CA6587030	119	T>A		No	ClinGen ExAC gnomAD
CA384989707 rs1203238331	122	F>V		No	ClinGen TOPMed
CA6587028 rs779329490	123	G>R		No	ClinGen ExAC gnomAD
CA384989678 rs1306006563	124	L>F		No	ClinGen TOPMed gnomAD
CA6587026 rs754186437	125	G>R		No	ClinGen ExAC TOPMed gnomAD
rs767111463 CA6587023	128	G>S		No	ClinGen ExAC gnomAD
rs201334604 CA6587022	129	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773619033 CA237288838	132	P>L		No	ClinGen TOPMed gnomAD
rs1345828562 CA384989568	133	P>L		No	ClinGen gnomAD
COSM1362579 CA384989553 rs1412927977	135	G>S	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs377708946 CA237288826	135	G>V		No	ClinGen ESP TOPMed
rs763052416 CA6587019	137	Q>K		No	ClinGen ExAC gnomAD
rs775579748 CA6587018	139	V>A		No	ClinGen ExAC gnomAD
rs1407450126 CA384989499	139	V>L		No	ClinGen TOPMed
rs1241105983 CA384989482	140	T>I		No	ClinGen TOPMed gnomAD
CA6587017 rs765171295	141	I>V		No	ClinGen ExAC gnomAD
rs759281421 CA6587016	142	N>T		No	ClinGen ExAC gnomAD
CA237288766 rs776454439	144	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6587014 rs771104068	146	L>P		No	ClinGen ExAC gnomAD
rs150486275 CA384989399	147	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs150486275 CA6587013	147	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA384989379 rs1329123658	148	P>R		No	ClinGen TOPMed
CA237288726 rs992911535	149	L>P		No	ClinGen Ensembl
CA237288702 rs267603526	152	E>K		No	ClinGen Ensembl
CA384989314 rs1392520837	153	V>A		No	ClinGen gnomAD
rs779421230 CA6587009	154	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1285006042 CA384989283	156	E>K		No	ClinGen TOPMed
rs769170187 CA6587008	159	R>K		No	ClinGen ExAC TOPMed gnomAD
CA6587007 rs749658124	160	I>L		No	ClinGen ExAC gnomAD
rs369566176 CA6587006	162	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1302273521 CA384989180	163	Q>H		No	ClinGen TOPMed gnomAD
CA384989157 rs1471448868	165	R>Q		No	ClinGen TOPMed gnomAD
rs199766670 CA6587005	165	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384989135 rs1381254506	167	Q>E		No	ClinGen TOPMed gnomAD
CA384989111 rs1202002320	168	I>M		No	ClinGen TOPMed
CA384989096 rs1565655720	169	M>I		No	ClinGen Ensembl
rs1193437280 CA384989105	169	M>L		No	ClinGen gnomAD
rs1026255386 CA237288659	170	V>I		No	ClinGen Ensembl
CA384989081 rs751254422	171	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6587004 rs751254422	171	L>I		No	ClinGen ExAC gnomAD
CA237288653 rs993302980	173	N>K		No	ClinGen TOPMed
rs777502387 CA6587003	173	N>S		No	ClinGen ExAC gnomAD
CA384989032 rs1480367051	174	K>N		No	ClinGen TOPMed
rs758003409 CA6587002	174	K>T		No	ClinGen ExAC gnomAD
rs752214869 CA6587001	176	A>P		No	ClinGen ExAC
CA6587000 rs765126131	178	F>S		No	ClinGen ExAC gnomAD
CA6586999 rs376278892	179	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA384988960 rs1426502423	180	D>G		No	ClinGen TOPMed
CA384988948 rs1428989288	181	K>M		No	ClinGen gnomAD
rs762004603 CA6586976	182	V>M		No	ClinGen ExAC gnomAD
CA6586975 rs774353164	183	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs668313 CA6586974	183	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6586973 rs762876592	184	F>L		No	ClinGen ExAC gnomAD
rs1447171869 CA384988445	186	E>G		No	ClinGen TOPMed
CA6586972 rs770383634	187	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA6586971 rs770383634	187	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs752544092 CA237283991	187	Q>P		No	ClinGen gnomAD
TCGA novel rs746274657 CA384988411	188	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen ExAC gnomAD
TCGA novel	191	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1374464383 CA384988365	192	L>R		No	ClinGen TOPMed
CA6586969 rs777112218	193	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs897184620 CA237283975	194	T>S		No	ClinGen Ensembl
rs747793089 CA6586967	195	K>R		No	ClinGen ExAC gnomAD
CA6586966 rs141700319	196	W>S		No	ClinGen 1000Genomes ExAC gnomAD
rs754527132 CA6586965	197	E>K		No	ClinGen ExAC gnomAD
rs764922509 CA6586964	200	Q>E		No	ClinGen ExAC gnomAD
CA384988259 rs1311644500	201	Q>*		No	ClinGen TOPMed
CA6586963 rs780074643	201	Q>H		No	ClinGen ExAC gnomAD
CA384988246 rs1432948731	202	V>M		No	ClinGen gnomAD
rs756018848 CA6586962	203	N>S		No	ClinGen ExAC TOPMed gnomAD
rs750271966 CA6586961	204	T>S		No	ClinGen ExAC gnomAD
CA384988204 rs1253244746 COSM162063	205	S>L	NS [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1167863672 CA384988196	206	T>A		No	ClinGen gnomAD
rs201227660 CA6586959	206	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs75308431 CA6586958	208	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368763533 CA237283899	211	L>M		No	ClinGen ESP TOPMed gnomAD
CA384988136 rs368763533	211	L>V		No	ClinGen ESP TOPMed gnomAD
CA6586956 rs763122983	213	P>R		No	ClinGen ExAC gnomAD
CA384988109 rs1413489679	213	P>T		No	ClinGen gnomAD
rs775399168 CA6586955	214	L>V		No	ClinGen ExAC gnomAD
CA384988055 rs1173359494	217	N>K		No	ClinGen TOPMed
CA6586954 rs529944681	217	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1341471838 CA384988049	218	Y>C		No	ClinGen gnomAD
CA384988027 rs760106782	219	I>M		No	ClinGen ExAC TOPMed gnomAD
CA384988029 rs1565653847	219	I>N		No	ClinGen Ensembl
rs1567759 CA6586951	220	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6586952 rs1567759	220	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs934306289 CA237283874	221	D>E		No	ClinGen Ensembl
rs200157774 CA384987985	223	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6586949 rs200157774	223	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs201677209 CA6586950	223	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA384987951 rs1328520929	226	V>G		No	ClinGen gnomAD
rs867128100 CA237283806	227	D>N		No	ClinGen Ensembl
CA384987899 rs1416526302	230	S>N		No	ClinGen gnomAD
rs756106631 CA384987884	231	A>E		No	ClinGen ExAC TOPMed gnomAD
rs756106631 CA6586946	231	A>G		No	ClinGen ExAC TOPMed gnomAD
rs756106631 CA6586945	231	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs559934133 CA6586943	232	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6586940 rs140276094	235	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA384987827 rs1439314555	235	R>H		No	ClinGen TOPMed gnomAD
CA6586939 rs764414327	237	N>D		No	ClinGen ExAC gnomAD
rs377759755 CA6586937	238	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377759755 CA6586936	238	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs759619786 CA6586935	238	A>V		No	ClinGen ExAC gnomAD
CA384987758 rs1337373280	240	V>D		No	ClinGen TOPMed
CA6586933 rs766941173	240	V>I		No	ClinGen ExAC gnomAD
rs1277388681 CA384987755	241	R>G		No	ClinGen gnomAD
rs1356602940 CA384987747	242	S>G		No	ClinGen gnomAD
CA237283751 rs868383654	242	S>N		No	ClinGen gnomAD
rs1461331229 CA384987742	242	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs773421127 CA6586931	244	Q>K		No	ClinGen ExAC gnomAD
CA384987730 rs1167275959	244	Q>P		No	ClinGen gnomAD
rs768407678 CA6586930	245	D>E		No	ClinGen ExAC gnomAD
rs762504365 CA6586929	246	V>I		No	ClinGen ExAC gnomAD
CA237283709 COSM361684 CA6586927 rs142147928	247	V>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA384987691 rs1592273829	248	E>K		No	ClinGen Ensembl
rs1233190259 CA384987667	249	D>G		No	ClinGen gnomAD
CA384987648 rs1467030683	250	Y>*		No	ClinGen gnomAD
CA6586925 rs745326092	251	K>E		No	ClinGen ExAC TOPMed gnomAD
CA384987637 rs1477889737	251	K>R		No	ClinGen TOPMed
CA6586924 rs781132843	252	S>N		No	ClinGen ExAC TOPMed gnomAD
CA384987620 rs1327835642	252	S>R		No	ClinGen gnomAD
CA384987619 rs1281745443	253	K>Q		No	ClinGen TOPMed gnomAD
CA384987248 rs1565653375	255	E>K		No	ClinGen Ensembl
CA384987231 rs566088726	257	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA6586898 rs566088726	257	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs141346656 CA6586897	258	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA384987197 rs7138818	261	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA237282565 rs754643160	262	T>I		No	ClinGen Ensembl
CA6586895 rs112917375	264	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6586893 CA384987180 rs757585360	264	S>R		No	ClinGen ExAC TOPMed gnomAD
CA384987179 rs1396609727	265	E>K		No	ClinGen TOPMed gnomAD
rs1240034974 CA384987168	266	N>S		No	ClinGen TOPMed
rs751882972 CA6586892	269	V>A		No	ClinGen ExAC
CA6586889 rs776190000	270	V>D		No	ClinGen ExAC gnomAD
CA6586890 rs200230736	270	V>F		No	ClinGen ESP ExAC gnomAD
rs200230736 CA237282506	270	V>I		No	ClinGen ESP ExAC gnomAD
TCGA novel	271	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6586887 rs760169871	272	K>R		No	ClinGen ExAC gnomAD
rs1256413704 CA384987123	273	K>R		No	ClinGen gnomAD
CA237281916 rs370700001	275	V>M		No	ClinGen Ensembl
rs768580339 CA237281908	276	D>G		No	ClinGen ExAC TOPMed gnomAD
rs768580339 CA6586865	276	D>V		No	ClinGen ExAC TOPMed gnomAD
rs749033968 CA6586864	277	A>T		No	ClinGen ExAC gnomAD
rs1462378424 CA384987058	278	A>T		No	ClinGen gnomAD
rs80219032 CA237281903	279	Y>F		No	ClinGen Ensembl
rs1393097127 CA384987028	280	V>L		No	ClinGen gnomAD
TCGA novel	284	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	284	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775597551 CA6586863	285	L>P		No	ClinGen ExAC gnomAD
rs564744341 CA6586862	289	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1010273405 CA237281875	290	D>N		No	ClinGen TOPMed
CA237281872 rs891916240	291	T>A		No	ClinGen TOPMed gnomAD
CA237281870 rs202182451	291	T>I		No	ClinGen Ensembl
rs139809869 CA6586861	292	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1461175766 CA384986859	293	T>A		No	ClinGen TOPMed
rs1240594398 CA384986836	295	E>*		No	ClinGen TOPMed
CA6586856 rs747518466	297	N>D		No	ClinGen ExAC TOPMed gnomAD
rs147453297 CA237281839	297	N>S		No	ClinGen ESP TOPMed
CA6586854 rs758781145	301	Y>H		No	ClinGen ExAC gnomAD
CA6586853 rs62639689	302	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed
rs1308788675 CA384986699	303	F>V		No	ClinGen gnomAD
rs372310102	305	T>=	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	NCI-TCGA
CA6586850 rs551108191	305	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1345704107 CA384985606	306	E>K		No	ClinGen gnomAD
CA384985530 rs1362344641	310	V>L		No	ClinGen Ensembl
CA384985499 rs1298459578	312	T>S		No	ClinGen TOPMed gnomAD
CA384985483 rs1375223266	313	H>R		No	ClinGen gnomAD
rs1413729572 CA384985493	313	H>Y		No	ClinGen gnomAD
CA384985447 rs1337649286	315	S>G		No	ClinGen TOPMed
rs533060920 CA6586823	316	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1705677 rs201797687 CA6586824	316	D>N	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs765083307 CA384985394	317	T>A		No	ClinGen ExAC TOPMed gnomAD
CA6586821 rs759191456	317	T>S		No	ClinGen ExAC gnomAD
rs765083307 CA6586822	317	T>S		No	ClinGen ExAC TOPMed gnomAD
CA6586819 rs771101670	318	N>S		No	ClinGen ExAC gnomAD
CA6586817 rs773252027	319	V>A		No	ClinGen ExAC TOPMed gnomAD
CA6586818 rs375236986	319	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA6586815 rs585664	322	S>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA237276907 rs1039194258	322	S>P		No	ClinGen gnomAD
rs141924269 CA6586814	323	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA237276884 rs75198741	324	D>E		No	ClinGen Ensembl
rs769079875 CA6586813	324	D>N		No	ClinGen ExAC TOPMed gnomAD
rs781027224 CA6586811	326	N>S		No	ClinGen ExAC gnomAD
rs756943078 CA6586810	327	R>C		No	ClinGen ExAC TOPMed gnomAD
rs756943078 CA384985197	327	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6586809 rs201946142	327	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6586808 rs777410966	328	S>F		No	ClinGen ExAC gnomAD
rs1328798533 CA384985182	328	S>P		No	ClinGen gnomAD
CA384985098 rs1471454758	334	I>N		No	ClinGen TOPMed
rs765032011 CA6586805	336	D>G		No	ClinGen ExAC gnomAD
CA384985064 rs10783528	336	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs10783528 CA6586806	336	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384985037 rs1183779409	337	A>E		No	ClinGen gnomAD
CA6586804 rs754829666	337	A>T		No	ClinGen ExAC TOPMed gnomAD
rs753599284 CA6586803	338	V>E		No	ClinGen ExAC gnomAD
rs146379141 CA384985013	339	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77359838 CA6586801	339	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146379141 COSM1171915 CA6586802	339	R>W	oesophagus [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs61729645 CA6586800	341	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1171942117 CA384984937	342	Y>C		No	ClinGen gnomAD
CA6586799 rs767640724	342	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs761742165 CA6586798	345	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1212572949 CA384984877	345	I>T		No	ClinGen gnomAD
CA6586797 rs79761664	348	R>K		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	349	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384984780 rs1284293975	350	K>N		No	ClinGen TOPMed
rs1452804461 CA384984771	351	D>N		No	ClinGen Ensembl
CA6586796 rs769008819	352	E>K		No	ClinGen ExAC gnomAD
rs145209085 CA6586794	354	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384984716 rs145209085	354	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384984658 rs1332596583	357	Y>N		No	ClinGen gnomAD
CA384984261 rs1221395095	362	Q>*		No	ClinGen TOPMed
CA384984260 rs368633150	362	Q>P		No	ClinGen TOPMed gnomAD
rs368633150 CA237276072	362	Q>R		No	ClinGen TOPMed gnomAD
rs1189930620 CA384984253	363	E>G		No	ClinGen TOPMed
rs1485242619 CA384984256	363	E>K		No	ClinGen TOPMed gnomAD
rs1485242619 CA384984255	363	E>Q		No	ClinGen TOPMed gnomAD
rs138421134 CA6586775	365	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA384984212 rs1218282171	366	I>N		No	ClinGen gnomAD
rs3782489 CA6586774	367	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1210616244 CA384984185	368	A>E		No	ClinGen gnomAD
CA237276063 rs962967012	368	A>S		No	ClinGen Ensembl
CA6586771 rs771588732	370	R>G		No	ClinGen ExAC gnomAD
CA6586770 rs747742433	371	H>P		No	ClinGen ExAC gnomAD
CA6586767 rs749230231	374	D>E		No	ClinGen ExAC TOPMed gnomAD
CA384984104 rs768704146	374	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs768704146 CA6586768	374	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA6586765 rs779910178	378	S>G		No	ClinGen ExAC gnomAD
rs781520591 CA6586762	380	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755926806 CA6586764	380	M>L		No	ClinGen ExAC
CA6586763 rs750178389	380	M>T		No	ClinGen ExAC gnomAD
rs1416701658 CA384983919	382	I>F		No	ClinGen gnomAD
CA384983918 rs1195405886	382	I>T		No	ClinGen gnomAD
CA6586759 rs370988767	387	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA6586758 rs763066575	387	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6586760 rs370988767	387	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs753275869 CA6586757	388	T>I		No	ClinGen ExAC gnomAD
CA384983815 rs1210675064	388	T>P		No	ClinGen gnomAD
rs1307005005 CA384983786	389	V>A		No	ClinGen gnomAD
rs200529529 CA6586755	389	V>I	Variant assessed as Somatic; 4.635e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA384983696 rs1341416042	394	A>G		No	ClinGen gnomAD
CA6586754 rs776837417	394	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1412737024 CA384983681 CA384983679	395	E>D		No	ClinGen TOPMed gnomAD
rs1381010377 CA384983658	397	S>N		No	ClinGen gnomAD
rs771815735 CA237276017	398	N>K		No	ClinGen ExAC gnomAD
rs1352688674 CA384983624	399	V>G		No	ClinGen gnomAD
CA6586752 rs761365874	399	V>M		No	ClinGen ExAC TOPMed gnomAD
rs559206625 CA6586751	401	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1465666626 CA384983598	401	K>R		No	ClinGen gnomAD
rs1199888608 CA384983545	402	Q>H		No	ClinGen TOPMed
CA6586728 rs745790482	407	Q>E		No	ClinGen ExAC gnomAD
rs1252382142 CA384983358	407	Q>H		No	ClinGen gnomAD
rs745790482 CA6586729	407	Q>K		No	ClinGen ExAC gnomAD
rs1257709600 CA384983341	409	L>H		No	ClinGen TOPMed
rs1565652070 CA384983324	410	I>M		No	ClinGen Ensembl
CA6586726 rs201690097	411	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA384983296 rs778177726	412	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1182747693 CA384983285	413	A>V		No	ClinGen TOPMed
rs369985813 CA6586721	414	E>G		No	ClinGen ESP ExAC gnomAD
rs748296038 CA6586722	414	E>K		No	ClinGen ExAC gnomAD
CA384983246 rs1369616480	416	R>K		No	ClinGen gnomAD
rs754313640 CA6586719	417	G>S		No	ClinGen ExAC gnomAD
rs750768524 CA384983212	418	E>D		No	ClinGen ExAC gnomAD
CA6586718 rs756468097	418	E>K		No	ClinGen ExAC TOPMed gnomAD
rs756468097 CA6586717	418	E>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA384983197 rs1190297738	419	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA237275903 rs78726811	420	A>S		No	ClinGen Ensembl
CA237275909 rs78726811	420	A>T		No	ClinGen Ensembl
CA6586715 COSM4150194 rs763785281	420	A>V	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs762584638 CA6586714	423	D>V		No	ClinGen ExAC gnomAD
rs775052126 CA6586713	424	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs376686743 CA237275882	425	W>*		No	ClinGen ESP gnomAD
CA6586710 rs776461470	427	K>*		No	ClinGen ExAC gnomAD
CA6586711 rs776461470	427	K>E		No	ClinGen ExAC gnomAD
rs1565652025 CA384983088	427	K>N		No	ClinGen Ensembl
TCGA novel	428	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770867707 CA6586709	428	L>R		No	ClinGen ExAC gnomAD
CA237275863 rs111826357	429	Q>H		No	ClinGen Ensembl
rs772489280 CA6586708	429	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs772489280 CA6586707	429	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs772489280 CA6586706	429	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs796663900 CA237275862	430	D>E		No	ClinGen Ensembl
rs1487192216 CA384983055	430	D>V		No	ClinGen gnomAD
rs150981240 CA6586704	431	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200694410 CA237275856	431	L>R		No	ClinGen TOPMed
CA384983024 rs1592271453	432	E>*		No	ClinGen Ensembl
rs779218101 CA6586693	434	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1331132248 CA384982979	436	Q>H		No	ClinGen TOPMed gnomAD
CA384982976 rs1294426131	437	Q>*		No	ClinGen gnomAD
rs369567819 CA6586691	437	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1362060465 CA384982960	439	K>M		No	ClinGen gnomAD
CA384982957 rs1300499624	440	E>K		No	ClinGen gnomAD
rs780465817 CA6586690	442	L>V		No	ClinGen ExAC gnomAD
rs1402173914 CA384982935	443	A>S		No	ClinGen gnomAD
CA6586689 rs756622914	443	A>V		No	ClinGen ExAC gnomAD
rs199965086 CA384982932	444	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6586685 rs752363574	444	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs199965086 CA6586686	444	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776180693 CA6586682	447	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760656188 CA6586680	447	R>H	Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760656188 CA384982903	447	R>L		No	ClinGen ExAC TOPMed gnomAD
rs760656188 CA6586681	447	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1276443996 CA384982900	448	D>N		No	ClinGen gnomAD
CA6586679 rs773215814	449	Y>H		No	ClinGen ExAC gnomAD
CA6586677 rs147856424	450	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA384982835 rs1216243526	452	M>I		No	ClinGen gnomAD
rs144586198 CA237275777	454	G>A		No	ClinGen ESP TOPMed gnomAD
TCGA novel	454	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6586675 rs768894015	455	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1592271398 CA384982803	455	V>G		No	ClinGen Ensembl
CA6586676 rs768894015	455	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1307786282 CA384982767	458	S>F		No	ClinGen TOPMed
CA6586674 rs546897928	460	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6586673 rs780169885	462	E>*		No	ClinGen ExAC TOPMed gnomAD
CA384982701 rs1403527299	463	I>T		No	ClinGen gnomAD
CA237275755 rs903879117	464	A>S		No	ClinGen TOPMed gnomAD
rs903879117 CA237275762	464	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs746383788 CA6586671	465	T>A		No	ClinGen ExAC gnomAD
CA6586670 rs771133711	467	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757643596 CA6586669	467	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA384982565 rs1442990864	470	L>Q		No	ClinGen gnomAD
rs1196247653 CA384982521	472	G>V		No	ClinGen gnomAD
rs1258335117 CA384982434	476	R>K		No	ClinGen gnomAD
CA6586648 rs758621677	477	M>I		No	ClinGen ExAC gnomAD
CA384982287 rs1238524513	477	M>T		No	ClinGen gnomAD
CA384982296 rs1354921852	477	M>V		No	ClinGen TOPMed
rs779523115 CA6586646	483	S>N		No	ClinGen ExAC gnomAD
CA384982149 rs1405759308	484	H>N		No	ClinGen TOPMed gnomAD
CA237275560 rs200605894	486	S>N		No	ClinGen gnomAD
rs368000634 CA6586621	489	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6586620 rs368000634	489	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA384981904 rs1464619211	490	Q>H		No	ClinGen gnomAD
rs1176217096 CA384981924	490	Q>K		No	ClinGen gnomAD
rs759748041 CA6586618	491	N>D		No	ClinGen ExAC gnomAD
CA6586617 rs776764870	491	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1479012947 CA384981877	492	S>G		No	ClinGen TOPMed gnomAD
CA6586616 rs766459602	494	V>M		No	ClinGen ExAC gnomAD
rs1005688607 CA237275349	495	S>N		No	ClinGen TOPMed gnomAD
rs760694810 CA6586615	495	S>R		No	ClinGen ExAC gnomAD
rs773799791 CA6586614	496	V>A		No	ClinGen ExAC TOPMed gnomAD
CA384981792 rs772426229	497	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1172567455 CA384981796	497	N>S		No	ClinGen TOPMed gnomAD
rs748596912 CA384981784	498	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1317332944 CA384981777	498	G>D		No	ClinGen gnomAD
rs748596912 CA6586612	498	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6586609 rs745521566	499	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1307865391 CA384981757	499	G>D		No	ClinGen gnomAD
rs745521566 CA6586610	499	G>S		No	ClinGen ExAC TOPMed gnomAD
rs780937243 CA6586608	500	A>V		No	ClinGen ExAC gnomAD
rs1375073491 CA384981711	501	G>A		No	ClinGen TOPMed
TCGA novel	503	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777810337 CA6586605	504	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	505	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384981601 rs1389085212	507	G>D		No	ClinGen TOPMed
rs778681418 CA6586603	507	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6586602 rs778681418	507	G>S		No	ClinGen ExAC TOPMed gnomAD
rs199796258 CA6586600	508	S>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384981570 rs1422406510	510	G>S		No	ClinGen TOPMed gnomAD
CA6586599 rs766546122	511	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1457380166 CA384981530	512	G>S		No	ClinGen TOPMed gnomAD
rs750447369 CA384981508	513	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6586597 rs750447369	513	G>V		No	ClinGen ExAC TOPMed gnomAD
rs768129431 CA6586596	514	G>C		No	ClinGen ExAC TOPMed gnomAD
rs768129431 CA237275286	514	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1265050376 CA384981454	515	S>N		No	ClinGen gnomAD
CA384981429 rs762222509	517	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6586593 rs762222509	517	G>W		No	ClinGen ExAC TOPMed gnomAD
CA384981407 rs1239247863	518	G>D		No	ClinGen gnomAD
CA384981402 rs1239247863	518	G>V		No	ClinGen gnomAD
rs1389618750 CA384981343	522	G>E		No	ClinGen TOPMed gnomAD
rs1565651450 CA384981349	522	G>R		No	ClinGen Ensembl
rs1565651442 CA384981331	523	R>K		No	ClinGen Ensembl
CA6586589 rs201634299	524	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201634299 CA237275254	524	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1363601898 CA384981304	526	R>H		No	ClinGen TOPMed
CA6586585 rs777139871	527	G>A		No	ClinGen ExAC gnomAD
rs746583825 CA6586586	527	G>R		No	ClinGen ExAC gnomAD
CA384981296 rs1312686345	528	G>S		No	ClinGen gnomAD
CA384981293 rs1180631904	528	G>V		No	ClinGen gnomAD
rs1419706938 CA384981291	529	G>R		No	ClinGen gnomAD
CA384981280 rs1208224480	530	A>V		No	ClinGen gnomAD
CA237275243 rs748046252	531	R>L		No	ClinGen ExAC TOPMed gnomAD
rs748046252 CA6586583	531	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA6586582 rs200729891	532	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6586579 rs636127	533	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs543787765 CA6586578	533	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs636127 CA384981271	533	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1351488194 CA384981259	534	S>R		No	ClinGen gnomAD
rs750583026 CA6586575	535	G>R		No	ClinGen ExAC gnomAD
rs1334140084 CA384981254	535	G>V		No	ClinGen TOPMed
CA384981253 rs1474754885	536	G>S		No	ClinGen TOPMed gnomAD
CA384981247 rs1486288029	537	G>S		No	ClinGen TOPMed
CA6586573 rs761896752	537	G>V		No	ClinGen ExAC
rs1329955770 CA384981232	539	G>C		No	ClinGen gnomAD
rs764658932 CA384981222 CA6586571	540	S>R		No	ClinGen ExAC TOPMed gnomAD
CA384981219 rs1195688250	541	G>C		No	ClinGen gnomAD
rs763455099 CA6586570	541	G>D		No	ClinGen ExAC TOPMed gnomAD
rs775978302 CA6586569	542	C>R		No	ClinGen ExAC gnomAD
rs760244596 CA384981207	543	G>C		No	ClinGen ExAC gnomAD
rs760244596 CA6586567	543	G>S		No	ClinGen ExAC gnomAD
rs1196836113 CA384981200	544	G>D		No	ClinGen gnomAD
CA6586565 rs574919551 COSM4147228	545	G>C	thyroid [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs778860938 CA384981183	547	G>E		No	ClinGen ExAC gnomAD
rs778860938 CA6586563	547	G>V		No	ClinGen ExAC gnomAD
rs1346480372 CA384981180	548	S>G		No	ClinGen TOPMed
CA237275187 rs972918498	548	S>N		No	ClinGen TOPMed
CA6586562 rs768558461	550	G>A		No	ClinGen ExAC TOPMed gnomAD
rs768558461 CA384981163	550	G>E		No	ClinGen ExAC TOPMed gnomAD
rs1205588657 CA384981165	550	G>R		No	ClinGen gnomAD
rs1358328798 CA384981156	551	G>E		No	ClinGen TOPMed
CA6586560 rs779820538	552	S>G		No	ClinGen ExAC gnomAD
rs1293722471 CA384981142	554	R>G		No	ClinGen TOPMed
rs1277135272 CA384981131	555	S>N		No	ClinGen gnomAD
rs1399803466 CA384981127	556	G>S		No	ClinGen TOPMed gnomAD
CA237275177 rs78247417	556	G>V		No	ClinGen Ensembl
CA384981120 rs1320852577	557	R>C		No	ClinGen TOPMed gnomAD
CA384981116 rs558199424	558	G>*		No	ClinGen 1000Genomes ExAC gnomAD
rs558199424 CA6586558	558	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA384981112 rs1309183443	558	G>V		No	ClinGen TOPMed
rs781428400 CA6586557	559	S>F		No	ClinGen ExAC gnomAD
CA384981099 rs139323266	561	R>C		No	ClinGen ESP ExAC gnomAD
CA384981096 rs1430285556	561	R>L		No	ClinGen gnomAD
CA6586556 rs139323266	561	R>S		No	ClinGen ESP ExAC gnomAD
rs751663426 CA6586555	562	V>L		No	ClinGen ExAC gnomAD
rs751663426 CA384981095	562	V>M		No	ClinGen ExAC gnomAD
rs758965022 CA6586553	563	Q>H		No	ClinGen ExAC gnomAD
rs764750752 CA6586554	563	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	564	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA237275145 rs538740870	565	I>S		No	ClinGen 1000Genomes
CA384981077 rs1592270670	565	I>V		No	ClinGen Ensembl
CA384981065 rs1481512460	566	Q>H		No	ClinGen Ensembl
CA6586552 rs753183959	567	T>N		No	ClinGen ExAC
rs765531457 CA6586551	569	T>S		No	ClinGen ExAC gnomAD
CA6586549 rs772769052	571	T>N		No	ClinGen ExAC TOPMed gnomAD
CA384981039 rs1592270654	571	T>P		No	ClinGen Ensembl
CA6586548 rs767166293	573	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs761361009 CA6586547	575	R>Q		No	ClinGen ExAC gnomAD
rs1319548818 CA384980171	575	R>W		No	ClinGen gnomAD
CA237275127 rs1005707702	578	E>*		No	ClinGen Ensembl
CA6586546 rs773837165	579	E>Y		No	ClinGen ExAC TOPMed gnomAD

No associated diseases with Q7Z794

3 regional properties for Q7Z794

Type	Name	Position	InterPro Accession
conserved_site	Intermediate filament protein, conserved site	463 - 471	IPR018039
domain	Keratin type II head	4 - 160	IPR032444
domain	Intermediate filament, rod domain	163 - 477	IPR039008

Functions

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

5 GO annotations of cellular component

Name	Definition
cornified envelope	A type of plasma membrane that has been modified through addition of distinct intracellular and extracellular components, including ceramide, found in cornifying epithelial cells (corneocytes).
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
keratin filament	A filament composed of acidic and basic keratins (types I and II), typically expressed in epithelial cells. The keratins are the most diverse classes of IF proteins, with a large number of keratin isoforms being expressed. Each type of epithelium always expresses a characteristic combination of type I and type II keratins.

1 GO annotations of molecular function

Name	Definition
structural constituent of skin epidermis	The action of a molecule that contributes to the structural integrity of an epidermal cutaneous structure.

2 GO annotations of biological process

Name	Definition
intermediate filament organization	Control of the spatial distribution of intermediate filaments; includes organizing filaments into meshworks, bundles, or other structures, as by cross-linking.
keratinization	The process in which the cytoplasm of the outermost cells of the vertebrate epidermis is replaced by keratin. Keratinization occurs in the stratum corneum, feathers, hair, claws, nails, hooves, and horns.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q14CN4	KRT72	Keratin, type II cytoskeletal 72	Homo sapiens (Human)	PR

10	20	30	40	50	60
MSHQFSSQSA	FSSMSRRVYS	TSSSAGSGGG	SPAVGSVCYA	RGRCGGGGYG	IHGRGFGSRS
70	80	90	100	110	120
LYNLGGSRSI	SINLMGRSTS	GFCQGGGVGG	FGGGRGFGVG	STGAGGFGGG	GFGGAGFGTS
130	140	150	160	170	180
NFGLGGFGPY	CPPGGIQEVT	INQSLLEPLH	LEVDPEIQRI	KTQEREQIMV	LNNKFASFID
190	200	210	220	230	240
KVRFLEQQNQ	VLQTKWELLQ	QVNTSTGTNN	LEPLLENYIG	DLRRQVDLLS	AEQMRQNAEV
250	260	270	280	290	300
RSMQDVVEDY	KSKYEDEINK	RTGSENDFVV	LKKDVDAAYV	SKVDLESRVD	TLTGEVNFLK
310	320	330	340	350	360
YLFLTELSQV	QTHISDTNVI	LSMDNNRSLD	LDSIIDAVRT	QYELIAQRSK	DEAEALYQTK
370	380	390	400	410	420
YQELQITAGR	HGDDLKNSKM	EIAELNRTVQ	RLQAEISNVK	KQIEQMQSLI	SDAEERGEQA
430	440	450	460	470	480
LQDAWQKLQD	LEEALQQSKE	ELARLLRDYQ	AMLGVKLSLD	VEIATYRQLL	EGEESRMSGE
490	500	510	520	530	540
LQSHVSISVQ	NSQVSVNGGA	GGGGSYGSGG	YGGGSGGGYG	GGRSYRGGGA	RGRSGGGYGS
550	560	570
GCGGGGGSYG	GSGRSGRGSS	RVQIIQTSTN	TSHRRILE