AiPD: Autoinhibited Protein Database

Q14CN4

Gene name	KRT72 (K6IRS2, KB35, KRT6, KRT6IRS2)
Protein name	Keratin, type II cytoskeletal 72
Names	Cytokeratin-72, CK-72, Keratin-72, K72, Type II inner root sheath-specific keratin-K6irs2, Type-II keratin Kb35
Species	Homo sapiens (Human)
KEGG Pathway	hsa:140807
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

460-511 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

460-511 (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 Q14CN4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q14CN4-F1	Predicted				AlphaFoldDB

537 variants for Q14CN4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1233380857 CA384944234	2	S>N		No	ClinGen gnomAD
CA384944221 rs1281709772	3	R>G		No	ClinGen TOPMed
rs868173969 CA237240389	3	R>H		No	ClinGen gnomAD
rs868173969 CA384944209	3	R>L		No	ClinGen gnomAD
rs1020474020 CA237240385	5	L>V		No	ClinGen gnomAD
CA237240384 rs1032456824	8	F>L		No	ClinGen TOPMed
TCGA novel	9	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770298667 CA6584749	9	P>R		No	ClinGen ExAC TOPMed gnomAD
CA384944067 rs1446045670	10	R>G		No	ClinGen gnomAD
rs1284061168 CA384944057	10	R>L		No	ClinGen TOPMed gnomAD
rs1353548655 CA384943988	14	L>R		No	ClinGen gnomAD
rs1377564230 CA384943910	18	G>D		No	ClinGen TOPMed
CA6584746 rs771863669	20	S>F		No	ClinGen ExAC gnomAD
rs530280665 CA6584747	20	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA237240373 rs758215311	21	A>E		No	ClinGen TOPMed gnomAD
rs758215311 CA384943874	21	A>G		No	ClinGen TOPMed gnomAD
rs1441978754 CA384943876	21	A>T		No	ClinGen gnomAD
rs758215311 CA384943872	21	A>V		No	ClinGen TOPMed gnomAD
rs1402220053 CA384943860	23	L>F		No	ClinGen gnomAD
rs1408642668 CA384943849	24	S>P		No	ClinGen gnomAD
rs779414132 CA384943819	26	G>R		No	ClinGen ExAC TOPMed
CA6584744 rs779414132	26	G>W		No	ClinGen ExAC TOPMed
rs567847444 CA384943772	27	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs780629561 CA6584741	28	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1485380864 CA384943735	29	S>R		No	ClinGen gnomAD
rs1214106100 CA384943689	32	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1449035369 CA384943675	32	A>V		No	ClinGen gnomAD
CA384943639 rs1210736483	34	F>L		No	ClinGen gnomAD
rs1287406263 CA384943642	34	F>Y		No	ClinGen gnomAD
CA6584739 rs750519012	35	R>L		No	ClinGen ExAC gnomAD
rs756104077 CA6584740	35	R>W		No	ClinGen ExAC TOPMed gnomAD
rs937222203 CA237240356	36	A>T		No	ClinGen gnomAD
rs1279100393 CA384943599	37	R>G		No	ClinGen TOPMed
rs61747194 CA384943594	37	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61747194 CA6584738	37	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384943556 rs1432640039	39	K>E		No	ClinGen gnomAD
CA384943540 rs1345521123	39	K>M		No	ClinGen TOPMed gnomAD
rs1345521123 CA384943551	39	K>R		No	ClinGen TOPMed gnomAD
CA237240327 rs752607668	40	G>D		No	ClinGen Ensembl
rs757469253 CA6584737	40	G>S		No	ClinGen ExAC gnomAD
CA6584736 rs531231002	41	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1427354088 CA384943458	42	A>D		No	ClinGen gnomAD
rs1427354088 CA384943447	42	A>V		No	ClinGen gnomAD
rs1264410554 CA384943366	44	F>L		No	ClinGen TOPMed gnomAD
rs764921084 CA6584733	44	F>S		No	ClinGen ExAC gnomAD
CA384943339 rs1187638855	45	G>D		No	ClinGen TOPMed gnomAD
CA6584732 rs146851850	47	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs867853815 CA237240292	48	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	50	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6584731 rs545441578	51	C>R		No	ClinGen 1000Genomes ExAC gnomAD
rs376725730 CA237240284	52	L>P		No	ClinGen Ensembl
rs1001826580 CA237240285	52	L>V		No	ClinGen TOPMed gnomAD
CA384943097 rs1372564459	53	G>E		No	ClinGen TOPMed
CA6584730 rs532136578 CA237240280	53	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA
rs760205076 CA6584729	54	G>D		No	ClinGen ExAC TOPMed gnomAD
CA384943005 rs1292522518	55	S>N		No	ClinGen gnomAD
CA384943001 rs1302237775	55	S>R		No	ClinGen TOPMed
rs1412692002 CA384942995	56	R>G		No	ClinGen gnomAD
rs61740869 CA237240273	57	S>I		No	ClinGen gnomAD
rs61740869 CA384942924	57	S>T		No	ClinGen gnomAD
rs1461072774 CA384942888	59	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1461072774 CA384942884	59	A>V		No	ClinGen TOPMed gnomAD
rs1171878278 CA384942878	60	L>V		No	ClinGen gnomAD
CA384942835 rs1410221924	61	S>N		No	ClinGen gnomAD
CA384942762 rs1194035387	63	A>V		No	ClinGen TOPMed
CA6584725 rs774099286	65	R>P		No	ClinGen ExAC TOPMed gnomAD
CA384942704 rs774099286	65	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs761523800 CA6584726	65	R>W		No	ClinGen ExAC TOPMed gnomAD
CA237240244 rs189178192	66	R>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA384942680 rs189178192	66	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
rs1041141355 CA237240245	66	R>W		No	ClinGen TOPMed
CA6584723 rs749691125	67	G>S		No	ClinGen ExAC TOPMed gnomAD
CA384942627 rs1460753761	69	G>S		No	ClinGen TOPMed
TCGA novel	70	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384942594 rs1565624179	70	R>H		No	ClinGen Ensembl
rs770276041 CA6584721	71	L>P		No	ClinGen ExAC gnomAD
rs1313375906 CA384942559	72	G>S		No	ClinGen gnomAD
rs57242225 CA6584720	73	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781221296 CA237240232	74	F>L		No	ClinGen ExAC TOPMed gnomAD
rs986945699 CA237240236	74	F>S		No	ClinGen TOPMed gnomAD
CA6584718 rs757377399	75	V>L		No	ClinGen ExAC gnomAD
rs778087541 CA6584716	76	G>V		No	ClinGen ExAC TOPMed gnomAD
rs967987950 CA237240227	78	A>T		No	ClinGen gnomAD
rs1406411807 CA384942332	80	G>D		No	ClinGen gnomAD
rs1419074105 CA384942343	80	G>R		No	ClinGen TOPMed gnomAD
CA384942304 rs143758112 CA6584713	81	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs116941214 CA6584711	83	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6584710 rs767110728	85	G>R		No	ClinGen ExAC gnomAD
CA6584709 rs761428227	87	K>M		No	ClinGen ExAC gnomAD
CA384942103 rs1592236616	88	C>G		No	ClinGen Ensembl
rs773831708 CA6584707	89	P>S		No	ClinGen ExAC TOPMed
rs1308984147 CA384942052	90	S>C		No	ClinGen gnomAD
rs1308984147 CA384942053	90	S>Y		No	ClinGen gnomAD
rs1369561610 CA384942045	91	V>M		No	ClinGen gnomAD
rs775923732 CA6584704	95	G>R		No	ClinGen ExAC gnomAD
rs1001170343 CA237240148	96	G>A		No	ClinGen gnomAD
CA384941825 rs1294547368	98	P>A		No	ClinGen gnomAD
rs770187775 CA6584701	98	P>L		No	ClinGen ExAC gnomAD
rs1294547368 CA384941820	98	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1362574684 CA384941753	101	T>I		No	ClinGen gnomAD
rs1347642179 CA384941728	102	V>A		No	ClinGen TOPMed
rs137909958 CA6584699	103	N>D		No	ClinGen ESP ExAC gnomAD
rs150321831 CA6584698	104	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1191798794 CA384941681	104	K>R		No	ClinGen TOPMed gnomAD
rs1268297934 CA384941615	105	S>R		No	ClinGen gnomAD
CA237240130 rs1001776148	106	L>P		No	ClinGen TOPMed
rs1484730211 CA384941563	107	L>P		No	ClinGen gnomAD
rs888721644 CA384941532	109	P>A		No	ClinGen TOPMed gnomAD
rs376183911 CA6584696	109	P>L		No	ClinGen ESP ExAC gnomAD
rs888721644 CA384941531	109	P>S		No	ClinGen TOPMed gnomAD
COSM548820 CA237240126 rs888721644	109	P>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA384941463 rs1235837135	111	N>S		No	ClinGen gnomAD
CA6584693 rs56207115	114	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs566872211 CA6584694	114	M>V		No	ClinGen 1000Genomes ExAC gnomAD
CA6584692 rs536724669	115	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6584691 rs756018612	116	P>L		No	ClinGen ExAC TOPMed gnomAD
rs767589198 CA6584689	117	E>D		No	ClinGen ExAC gnomAD
CA384941298 rs1258616553 COSM940784	117	E>K	Variant assessed as Somatic; 4.624e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1467595273 CA384941222	119	Q>H		No	ClinGen gnomAD
CA384941210 rs1378424120	120	R>T		No	ClinGen gnomAD
CA384941162 COSM940783 rs1426542239	122	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6584687 rs151190349	122	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs531147993 CA6584685	123	A>P		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	123	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs571801812 CA6584684	124	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384941091 rs1345059963	125	E>K		No	ClinGen gnomAD
CA384941082 rs1345059963	125	E>Q		No	ClinGen gnomAD
CA384941060 rs150969560	126	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150969560 COSM3718439 CA6584683	126	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs777055986 CA6584681	127	E>A		No	ClinGen ExAC gnomAD
CA6584682 rs147647260	127	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771442855 CA6584680	128	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA384940430 rs1592236242	128	Q>L		No	ClinGen Ensembl
rs145325359 CA6584679	129	I>M		No	ClinGen ESP ExAC gnomAD
CA384940362 rs1311520026	130	K>N		No	ClinGen gnomAD
rs1389791993 CA384940358	131	A>T		No	ClinGen TOPMed gnomAD
CA384940347 rs1397888281	131	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	133	N>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6584677 rs772083136	133	N>K		No	ClinGen ExAC TOPMed gnomAD
CA6584676 rs748378479	134	N>K		No	ClinGen ExAC gnomAD
rs779297946 CA6584675	135	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA384940233 rs755930591	136	F>I		No	ClinGen ExAC gnomAD
rs755930591 CA6584673	136	F>L		No	ClinGen ExAC gnomAD
rs745658549 CA6584672	136	F>Y		No	ClinGen ExAC
rs781213969 CA384940208	137	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781213969 CA6584671	137	A>T		No	ClinGen ExAC TOPMed gnomAD
rs757217449 CA6584670	138	S>C		No	ClinGen ExAC gnomAD
CA6584669 rs199823742	140	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6584666 rs752356850	141	D>H		No	ClinGen ExAC TOPMed gnomAD
CA384940148 rs752356850	141	D>N		No	ClinGen ExAC TOPMed gnomAD
rs752356850 CA6584667	141	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs773116408 CA237240027	142	K>E		No	ClinGen Ensembl
rs778362231 CA384939745	144	R>P		No	ClinGen ExAC TOPMed gnomAD
CA6584631 rs778362231	144	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770174500 COSM275798 CA6584632	144	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6584628 rs201553444	145	F>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767980359 CA6584625	148	Q>L		No	ClinGen ExAC gnomAD
rs767980359 CA6584626	148	Q>R		No	ClinGen ExAC gnomAD
rs371580397 CA237238602	149	Q>R		No	ClinGen gnomAD
rs145160877 CA6584624	150	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384939545 rs1379986167	151	Q>R		No	ClinGen TOPMed
CA384939538 rs1302983584	152	V>M		No	ClinGen gnomAD
rs139883086 CA6584621	154	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA6584622 rs759719143	154	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1424846013 CA384939403	156	K>R		No	ClinGen gnomAD
rs765391683 CA6584619	157	W>*		No	ClinGen ExAC TOPMed gnomAD
CA6584617 rs61929568	161	Q>*		No	ClinGen ExAC gnomAD
CA384939178 rs1212870323	162	Q>*		No	ClinGen TOPMed
rs1199384341 CA384939049	167	N>D		No	ClinGen TOPMed
rs748053887 CA6584615	167	N>S		No	ClinGen ExAC gnomAD
rs1200812672 CA384939012	168	C>R		No	ClinGen TOPMed gnomAD
CA384939008 rs1200812672	168	C>S		No	ClinGen TOPMed gnomAD
CA6584613 rs185606180	170	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774294215 CA6584614	170	K>R		No	ClinGen ExAC TOPMed gnomAD
CA6584611 VAR_038087 rs11170187	171	N>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA384938906 rs11170187	171	N>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs11170187 CA384938895	171	N>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384938345 rs1284771557	173	E>Q		No	ClinGen gnomAD
CA384938281 rs1417014748	175	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA384938266 rs1178153714	176	Y>H		No	ClinGen TOPMed
CA6584610 rs755706604	177	E>K		No	ClinGen ExAC TOPMed gnomAD
CA384938173 rs1222741652	178	G>R		No	ClinGen gnomAD
CA384938164 rs1592233444	178	G>V		No	ClinGen Ensembl
rs747080405 CA384938147	179	Y>C		No	ClinGen TOPMed gnomAD
rs1238037471 CA384938159	179	Y>N		No	ClinGen TOPMed gnomAD
rs747080405 CA237238554	179	Y>S		No	ClinGen TOPMed gnomAD
CA6584608 rs781392409	180	I>N		No	ClinGen ExAC gnomAD
rs757721520 CA6584607	181	S>G		No	ClinGen ExAC gnomAD
CA384938077 rs1293365822	181	S>N		No	ClinGen gnomAD
CA384938039 CA384938043 rs1456659136	182	N>K		No	ClinGen TOPMed gnomAD
CA237238544 rs1000712260	183	L>P		No	ClinGen Ensembl
CA6584606 rs752076264	184	Q>*		No	ClinGen ExAC gnomAD
rs1250792621 CA384938006	184	Q>R		No	ClinGen Ensembl
rs765426364 CA6584602	189	M>I		No	ClinGen ExAC gnomAD
CA6584601 rs759645306	190	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1003831569 CA237238522	190	L>V		No	ClinGen TOPMed
CA384937755 rs1312093513	191	S>F		No	ClinGen TOPMed
CA6584599 rs61740873	193	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs557770143 CA6584600	193	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384937644 rs1215039167	194	G>E		No	ClinGen gnomAD
CA6584597 rs142970524	194	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1592233293 CA384937610	195	V>G		No	ClinGen Ensembl
CA384937599 rs1351370371	196	R>K		No	ClinGen gnomAD
CA384937552 rs1592233271	198	D>G		No	ClinGen Ensembl
CA384937522 rs1402669376	199	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs774854917 CA6584594	201	L>P		No	ClinGen ExAC gnomAD
rs201828903 CA237238500	204	M>I		No	ClinGen 1000Genomes
CA384937435 rs1472448762	204	M>T		No	ClinGen TOPMed gnomAD
rs1385482244 CA384937366	207	L>W		No	ClinGen gnomAD
CA6584592 rs745464215	208	V>A		No	ClinGen ExAC gnomAD
CA384937336 rs1263992060	209	E>Q		No	ClinGen Ensembl
CA6584591 rs372551970	210	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA384937291 rs1432547491	210	D>Y		No	ClinGen TOPMed
rs747392602 CA6584589	211	Y>C		No	ClinGen ExAC gnomAD
CA6584590 rs757631892	211	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs201576778	213	K>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs746726282 CA6584571	214	R>S		No	ClinGen ExAC gnomAD
CA6584570 rs111227242	218	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA237234420 rs909351520	219	I>N		No	ClinGen Ensembl
rs367759986 CA237234417	220	N>S		No	ClinGen ESP
TCGA novel	220	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6584568 rs144299417	222	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6584567 rs371373515	222	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA384936157 rs371373515	222	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6584569 rs144299417	222	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754946146 CA6584566	223	T>A		No	ClinGen ExAC
rs1346521160 CA384936145	224	A>T		No	ClinGen TOPMed
TCGA novel	228	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142291678 CA237234408	228	E>D		No	ClinGen ESP TOPMed
CA6584565 rs374431920	228	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780161227 CA384936097	229	F>I		No	ClinGen ExAC TOPMed gnomAD
CA6584562 rs750680214	229	F>L		No	ClinGen ExAC gnomAD
CA6584564 rs780161227	229	F>L		No	ClinGen ExAC TOPMed gnomAD
rs756321558 CA6584563	229	F>S		No	ClinGen ExAC TOPMed gnomAD
rs1403183320 CA384936082	230	V>A		No	ClinGen gnomAD
CA6584561 rs763830250	230	V>M		No	ClinGen ExAC gnomAD
CA384936071 rs1351332428	231	V>A		No	ClinGen TOPMed gnomAD
rs562340088 CA6584559	232	L>F		No	ClinGen 1000Genomes ExAC gnomAD
rs371238747 CA384936029	234	K>N		No	ClinGen ESP TOPMed gnomAD
CA6584542 rs147981249	235	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs74572393 CA6584538	236	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6584540 rs377500272 CA384935213	236	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377500272 CA6584539	236	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6584537 rs760291117	237	D>V		No	ClinGen ExAC gnomAD
rs772931718 CA6584536	238	A>V		No	ClinGen ExAC gnomAD
CA6584534 rs761427108	240	Y>C		No	ClinGen ExAC gnomAD
CA6584533 rs774770393 COSM548823	241	M>I	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA384935109 rs1237979450	241	M>V		No	ClinGen gnomAD
CA6584532 rs200192876	242	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749771207 CA6584531	244	V>A		No	ClinGen ExAC
rs1435528216 CA384935007	244	V>F		No	ClinGen TOPMed gnomAD
rs1435528216 CA384935013	244	V>I		No	ClinGen TOPMed gnomAD
rs1029624372 CA237234223	247	Q>R		No	ClinGen TOPMed
CA384934884 rs1329185420	249	K>T		No	ClinGen gnomAD
CA6584529 rs769801679	250	V>G		No	ClinGen ExAC TOPMed gnomAD
CA6584528 rs745964525	252	S>Y		No	ClinGen ExAC gnomAD
CA6584527 rs781191778	254	T>R		No	ClinGen ExAC gnomAD
CA6584525 rs747236825	255	D>E		No	ClinGen ExAC TOPMed gnomAD
rs778749490 CA6584524	258	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs199651611 CA6584522	262	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1214586317 CA384934493	263	L>F		No	ClinGen gnomAD
TCGA novel	263	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs12833456 VAR_038088 CA6584521	264	Y>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs755627285 CA6584519	266	G>R		No	ClinGen ExAC gnomAD
TCGA novel	268	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1362566676 CA384934208	268	I>V		No	ClinGen gnomAD
CA384934167 rs1195357575	270	Q>*		No	ClinGen TOPMed
rs1301813739 CA384934139	271	I>N		No	ClinGen gnomAD
CA6584499 rs142172097	273	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs142172097 CA237233868	273	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs763669688 CA6584498	275	I>L		No	ClinGen ExAC TOPMed gnomAD
CA6584495 rs753058952	275	I>M		No	ClinGen ExAC TOPMed gnomAD
CA6584496 rs762654484	275	I>S		No	ClinGen ExAC TOPMed gnomAD
rs763669688 CA6584497	275	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	276	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6584492 rs183502770	277	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6584493 rs548680308	277	D>N	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA6584491 rs201080258	278	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1479123924 CA384934035	278	T>P		No	ClinGen gnomAD
CA384934004 rs1360778582	279	S>F		No	ClinGen TOPMed
rs552852610 CA6584489	280	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1204599978 CA384933969	281	V>A		No	ClinGen gnomAD
CA6584487 rs371811856	281	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs779959806 CA6584486	283	S>*		No	ClinGen ExAC gnomAD
rs745766281 CA6584484	285	D>G		No	ClinGen ExAC gnomAD
rs769876314 CA237233814	285	D>H		No	ClinGen TOPMed gnomAD
CA384933913 rs1283549464	286	N>D		No	ClinGen TOPMed
rs1206980277 CA384933899	287	N>H		No	ClinGen TOPMed
CA384933882 rs756736404	288	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6584481 rs777794753	288	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA237233804 rs756736404	288	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA237233803 rs866735122	289	D>Y		No	ClinGen Ensembl
CA6584479 rs758019493	291	D>E		No	ClinGen ExAC gnomAD
rs267603521 CA237233802	291	D>N		No	ClinGen Ensembl
rs1227736532 COSM1512530 CA384933785	293	D>E	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA6584478 rs752396456	293	D>G		No	ClinGen ExAC gnomAD
CA384933776 rs1374187456	294	S>G		No	ClinGen gnomAD
rs1367236890 CA384933765	294	S>I		No	ClinGen TOPMed
rs1195891870 CA384933757	295	I>F		No	ClinGen Ensembl
rs765538689 CA6584477	295	I>N		No	ClinGen ExAC TOPMed gnomAD
rs1033861618 CA384933694	296	I>M		No	ClinGen gnomAD
CA384933683 rs1380369615	297	A>S		No	ClinGen TOPMed
COSM1362538 rs1355653453 CA384933678	297	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
COSM940780 CA6584475 rs752607357	298	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	298	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6584474 rs147007594	299	V>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs73320351 CA6584473	300	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6584472 rs149642871	300	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149642871 CA384933608	300	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384933598 rs1236522095	301	A>T		No	ClinGen gnomAD
CA6584470 rs112771714	303	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6584468 rs376773990	304	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs776549204 CA6584465	305	E>A		No	ClinGen ExAC TOPMed gnomAD
COSM4152860 rs561562480 CA6584466	305	E>K	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA237233761 rs776549204	305	E>V		No	ClinGen ExAC TOPMed gnomAD
rs1238723170 CA384933425	306	I>T		No	ClinGen gnomAD
CA384933407 rs777247704	307	A>D		No	ClinGen ExAC TOPMed gnomAD
rs747007532 CA384933409	307	A>S		No	ClinGen ExAC TOPMed gnomAD
rs747007532 CA6584463	307	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777247704 CA6584462	307	A>V		No	ClinGen ExAC TOPMed gnomAD
rs148734204 CA6584460	308	L>I		No	ClinGen ESP ExAC gnomAD
CA384933337 rs1293269267	309	K>N		No	ClinGen TOPMed gnomAD
rs1438564230 CA384933274	312	A>S		No	ClinGen TOPMed
CA6584458 rs755309278	313	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs145259719 CA6584457	315	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6584456 rs766830948	316	T>A		No	ClinGen ExAC TOPMed gnomAD
rs150482370 CA384933195	316	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA6584455 rs150482370	316	T>N		No	ClinGen 1000Genomes ExAC gnomAD
CA384933156 rs1399794587	318	Y>F		No	ClinGen TOPMed
rs1160732408 CA384933145	319	Q>*		No	ClinGen gnomAD
rs751015842 CA6584454	320	T>A		No	ClinGen ExAC gnomAD
rs762014322 CA6584453	320	T>N		No	ClinGen ExAC gnomAD
CA6584452 rs762014322	320	T>S		No	ClinGen ExAC gnomAD
CA384932979 rs1318574664	322	I>T		No	ClinGen TOPMed
TCGA novel	323	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384932963 rs1401800704	323	Q>R		No	ClinGen gnomAD
CA384932950 rs1197935738	324	E>*		No	ClinGen TOPMed
rs34769047 CA6584426 VAR_061298	326	Q>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs779786516 CA6584422	327	V>D		No	ClinGen ExAC gnomAD
rs117715179 CA6584423	327	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117715179 CA6584424	327	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746246094 CA6584420	329	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	330	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1253434780 CA384932838	330	G>D		No	ClinGen gnomAD
rs1479551707 CA384932830	331	Q>*		No	ClinGen TOPMed
CA384932813 rs1201863160	332	H>D		No	ClinGen gnomAD
CA6584419 rs202199905	333	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA384932791 rs1264203867	334	D>N		No	ClinGen gnomAD
rs879222932 CA237233469	335	D>H		No	ClinGen Ensembl
rs757809458 CA6584418	337	K>R		No	ClinGen ExAC gnomAD
CA6584416 rs777666732	342	E>K		No	ClinGen ExAC gnomAD
CA384932663 rs1424363855	343	I>V		No	ClinGen gnomAD
CA384932634 rs1410890322	345	E>G		No	ClinGen gnomAD
rs1477818711 CA384932621	346	L>F		No	ClinGen TOPMed
rs754766372 CA237233458	347	N>H		No	ClinGen Ensembl
CA384932607 rs1592225155	347	N>T		No	ClinGen Ensembl
rs765512861 CA6584413	348	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765512861 CA6584414	348	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6584412 rs748919132	348	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1383785396 CA384932572	350	I>M		No	ClinGen gnomAD
CA6584410 rs201093386	354	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs576034572 CA6584408	354	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6584409 rs576034572	354	R>L		No	ClinGen ExAC TOPMed gnomAD
CA237233439 rs576034572	354	R>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1299548 CA384932518 rs1168377132	355	S>*	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6584406 rs762527981	357	I>V		No	ClinGen ExAC TOPMed gnomAD
CA384932489 CA384932488 rs1184889248	359	N>K		No	ClinGen TOPMed gnomAD
CA384932482 rs1340887375	360	V>G		No	ClinGen TOPMed
TCGA novel	362	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA237232063 rs1029927342	364	C>Y		No	ClinGen TOPMed
CA6584388 rs7310138 VAR_038089	366	D>E		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA6584389 rs751386463	366	D>N		No	ClinGen ExAC gnomAD
CA6584385 rs140024110 COSM940778	369	T>M	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs140024110 CA6584386	369	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1456826422 CA384931803 COSM191020	370	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1232172898 CA384931792	371	I>T		No	ClinGen gnomAD
rs1279935532 CA384931799	371	I>V		No	ClinGen gnomAD
CA384931781 rs372773585	372	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372773585 CA6584382	372	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs369224848 CA6584379	373	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs773510817 CA6584380	373	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA384931744 rs1159517257	374	A>G		No	ClinGen gnomAD
CA384931753 rs200656498	374	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6584378 rs200656498	374	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1427844458 CA384931737	375	E>Q		No	ClinGen gnomAD
rs1365732342 CA384931724	376	Q>E		No	ClinGen gnomAD
rs755068681 CA6584376	376	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs755068681 CA384931715	376	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA6584374 rs184630537	377	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6584373 rs184630537	377	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6584375 COSM379010 rs150710240	377	R>W	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs906453378 CA384931697	378	G>A		No	ClinGen TOPMed gnomAD
CA237232031 rs906453378	378	G>E		No	ClinGen TOPMed gnomAD
rs371280790 CA6584369	379	D>G		No	ClinGen ESP ExAC TOPMed
rs141162784 CA6584371	379	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141162784 COSM1362535 CA6584370	379	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA384931663 rs199978375	380	C>*		No	ClinGen ExAC TOPMed gnomAD
rs764801794 CA6584368	380	C>Y		No	ClinGen ExAC gnomAD
CA6584364 rs760315693	381	A>D		No	ClinGen ExAC gnomAD
rs368767777 CA6584366	381	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
COSM293461 CA6584365 rs368767777	381	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs760315693 CA384931657	381	A>V		No	ClinGen ExAC gnomAD
TCGA novel	382	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA237232009 rs1037382114	384	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA384931603 rs748635916	386	R>P		No	ClinGen ExAC gnomAD
CA6584361 rs748635916	386	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6584362 rs775355202	386	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1404414631 CA384931556	389	L>V		No	ClinGen gnomAD
rs370491283 CA237232001	390	D>G		No	ClinGen ESP
CA6584359 rs774866254	390	D>H		No	ClinGen ExAC gnomAD
CA6584356 rs541621527	391	E>Q		No	ClinGen 1000Genomes
CA384931511 rs1303979291	392	L>M		No	ClinGen TOPMed
CA384931496 rs1184888306	392	L>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6584354 rs780163323	393	E>K		No	ClinGen ExAC gnomAD
TCGA novel	393	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs931608893 CA237231995	394	G>V		No	ClinGen TOPMed gnomAD
CA384931438 rs145882334	395	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6584352 COSM1256125 rs145882334	395	A>T	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs777577511 CA6584351	396	L>R		No	ClinGen ExAC gnomAD
rs1204002408 CA384931356	400	K>E		No	ClinGen gnomAD
rs758159396 CA6584350	401	E>K		No	ClinGen ExAC TOPMed gnomAD
rs201218547 CA6584349	403	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1705658 rs138110764 CA6584347	405	R>Q	skin [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs61740861 CA6584348	405	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6584345 rs766030329	408	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM431346 rs760349724 CA6584344	408	R>H	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs760349724 CA384931196	408	R>L		No	ClinGen ExAC TOPMed gnomAD
CA384931170 rs1376176724	410	Y>*		No	ClinGen TOPMed
rs750063172 CA6584343	411	Q>*		No	ClinGen ExAC gnomAD
CA6584342 rs767878464	411	Q>R		No	ClinGen ExAC gnomAD
CA237231970 rs539599708	412	E>A		No	ClinGen TOPMed
CA384931123 rs914619911	412	E>D		No	ClinGen gnomAD
rs991579459 CA237231966	413	L>V		No	ClinGen Ensembl
CA6584340 rs774780531	414	V>G		No	ClinGen ExAC gnomAD
rs956755555 COSM75190 CA237231960	414	V>M	ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs146990804 CA237231955	415	S>N		No	ClinGen ESP TOPMed gnomAD
CA384931000 rs774725571	419	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6584339 rs774725571	419	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs958924864 CA237231943	421	D>E		No	ClinGen gnomAD
CA384930978 rs1457116760	421	D>Y		No	ClinGen gnomAD
rs148898485 CA6584338	422	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6584337 rs775526937	425	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781275788 CA6584334	428	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs11170183 COSM275797 CA6584333	428	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA6584332 VAR_038090 rs11170183	428	R>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs778921794 CA6584331	429	K>R		No	ClinGen ExAC TOPMed gnomAD
CA237231926 rs200151867	431	L>P		No	ClinGen Ensembl
CA6584329 rs753871950	432	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1458587588 CA384930715	433	S>N		No	ClinGen gnomAD
CA6584327 rs755607003	433	S>R		No	ClinGen ExAC TOPMed gnomAD
CA6584326 rs750021860	434	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6584325 rs767089241	435	E>K		No	ClinGen ExAC gnomAD
CA6584324 rs761584332	436	C>Y		No	ClinGen ExAC gnomAD
CA384930661 rs1164504382	437	R>G		No	ClinGen TOPMed gnomAD
rs1262085168 CA384930467	437	R>S		No	ClinGen gnomAD
rs1164504382 CA384930658	437	R>W		No	ClinGen TOPMed gnomAD
CA6584299 rs753146414	438	M>I		No	ClinGen ExAC TOPMed gnomAD
CA6584298 rs765652796	440	G>A		No	ClinGen ExAC TOPMed gnomAD
rs766532753 CA384930400	441	E>*		No	ClinGen ExAC gnomAD
rs766532753 CA6584295	441	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760928485 CA6584294	444	N>D		No	ClinGen ExAC gnomAD
CA384930315 rs1381675965	444	N>T		No	ClinGen gnomAD
CA384930287 rs1383104179	445	S>Y		No	ClinGen gnomAD
rs1454471326 CA384930215	449	S>A		No	ClinGen gnomAD
rs776635361 CA6584270	449	S>F		No	ClinGen ExAC gnomAD
TCGA novel	450	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780591788 CA6584268	450	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1165748316 CA384929385	451	I>M		No	ClinGen TOPMed
rs1228155867 CA384929389	451	I>S		No	ClinGen TOPMed gnomAD
CA6584267 rs199503972	452	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771684225 CA6584266	453	S>N		No	ClinGen ExAC gnomAD
TCGA novel	453	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384929330 rs1592219589	454	T>I		No	ClinGen Ensembl
CA237231352 rs890474575	456	A>T		No	ClinGen TOPMed
CA384929292 rs1592219571 TCGA novel	456	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA237231346 rs1042640511	457	G>R		No	ClinGen TOPMed
rs1327934835 CA384929266	458	A>T		No	ClinGen gnomAD
CA6584263 rs199883270	458	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6584262 rs151051540	459	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA384929226 rs1423399722	460	G>R		No	ClinGen gnomAD
rs780716832 CA6584260	461	A>S		No	ClinGen ExAC gnomAD
TCGA novel	461	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384929112 rs1436580649	465	M>I		No	ClinGen TOPMed gnomAD
CA6584258 rs756739175	465	M>V		No	ClinGen ExAC gnomAD
rs767744211 CA6584256	466	G>D		No	ClinGen ExAC
CA6584257 rs144292815	466	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs761918093 CA6584255	468	G>D		No	ClinGen ExAC TOPMed gnomAD
rs34119325 CA384929068	469	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs34119325 CA6584253 COSM1362532	469	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1565613051 CA384929055	470	S>A		No	ClinGen Ensembl
rs1248532216 CA384929044	471	S>G		No	ClinGen gnomAD
CA384929040 rs1360423683	471	S>N		No	ClinGen gnomAD
rs759389397 CA6584252	472	S>R		No	ClinGen ExAC gnomAD
rs949041509 CA237231323	474	S>T		No	ClinGen Ensembl
rs1486606298 CA384928947	477	T>I		No	ClinGen TOPMed
CA384928951 rs1486606298	477	T>N		No	ClinGen TOPMed
rs200730575 CA6584251	479	A>V		No	ClinGen ExAC gnomAD
CA384928926 rs1307675290	480	A>T		No	ClinGen TOPMed gnomAD
rs1304413015 CA384928896	482	V>A		No	ClinGen gnomAD
rs372457463 CA6584249	482	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424912090 CA384928874	484	T>N		No	ClinGen TOPMed gnomAD
rs1424912090 CA384928872	484	T>S		No	ClinGen TOPMed gnomAD
CA384928855 rs569540468	485	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA6584246 rs747718760	489	G>D		No	ClinGen ExAC gnomAD
CA6584247 rs372980417	489	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6584245 rs778629010	490	S>N		No	ClinGen ExAC gnomAD
rs1592219343 CA384928794	490	S>R		No	ClinGen Ensembl
rs1187269827 CA384928769	492	L>R		No	ClinGen gnomAD
rs1183591236 CA384928766	493	K>E		No	ClinGen gnomAD
rs1266938312 CA384928746	494	D>V		No	ClinGen gnomAD
rs143816763 CA6584244	494	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs552891292 CA237231316	495	P>L		No	ClinGen 1000Genomes
CA6584243 rs749648000	495	P>T		No	ClinGen ExAC gnomAD
rs866504649 CA237231314	496	L>F		No	ClinGen Ensembl
CA384928730 rs1592219285	496	L>P		No	ClinGen Ensembl
rs148790107 CA384928721	497	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs148790107 CA6584242	497	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1482536835 CA384928715	498	K>E		No	ClinGen gnomAD
CA237231299 rs1026766815	499	T>S		No	ClinGen Ensembl
CA6584241 rs151138619	500	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369998532 CA6584237	504	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA237231289 rs751705130	504	C>G		No	ClinGen TOPMed gnomAD
CA384928661 rs369998532	504	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369998532 CA6584238	504	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA384928655 rs764365337	505	A>D		No	ClinGen ExAC TOPMed gnomAD
CA6584236 rs764365337	505	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1404983636 CA384928658	505	A>P		No	ClinGen gnomAD
CA6584235 rs547084372	507	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA384928632 rs1402056507	508	K>R		No	ClinGen gnomAD
TCGA novel	509	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6584234 rs139457860	509	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs139457860 CA384928626	509	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA384928620 rs1233722874	510	S>T		No	ClinGen TOPMed
rs147152413 CA384928609	511	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA237231250 rs1009002663	511	R>S		No	ClinGen Ensembl
CA6584232 rs147152413	511	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA384928599 rs1427732641	512	R>R		No	ClinGen gnomAD

No associated diseases with Q14CN4

3 regional properties for Q14CN4

Type	Name	Position	InterPro Accession
conserved_site	Intermediate filament protein, conserved site	424 - 432	IPR018039
domain	Keratin type II head	67 - 121	IPR032444
domain	Intermediate filament, rod domain	124 - 438	IPR039008

Functions

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

3 GO annotations of cellular component

Name	Definition
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
Q7Z794	KRT77	Keratin, type II cytoskeletal 1b	Homo sapiens (Human)	PR

10	20	30	40	50	60
MSRQLTHFPR	GERLGFSGCS	AVLSGGIGSS	SASFRARVKG	SASFGSKSLS	CLGGSRSLAL
70	80	90	100	110	120
SAAARRGGGR	LGGFVGTAFG	SAGLGPKCPS	VCPPGGIPQV	TVNKSLLAPL	NVEMDPEIQR
130	140	150	160	170	180
VRAQEREQIK	ALNNKFASFI	DKVRFLEQQN	QVLETKWNLL	QQLDLNNCRK	NLEPIYEGYI
190	200	210	220	230	240
SNLQKQLEML	SGDGVRLDSE	LRNMQDLVED	YKKRYEVEIN	RRTAAENEFV	VLKKDVDAAY
250	260	270	280	290	300
MNKVELQAKV	DSLTDEIKFF	KCLYEGEITQ	IQSHISDTSI	VLSMDNNRDL	DLDSIIAEVR
310	320	330	340	350	360
AQYEEIALKS	KAEAETLYQT	KIQELQVTAG	QHGDDLKLTK	AEISELNRLI	QRIRSEIGNV
370	380	390	400	410	420
KKQCADLETA	IADAEQRGDC	ALKDARAKLD	ELEGALHQAK	EELARMLREY	QELVSLKLAL
430	440	450	460	470	480
DMEIATYRKL	LESEECRMSG	EYPNSVSISV	ISSTNAGAGG	AGFSMGFGAS	SSYSYKTAAA
490	500	510
DVKTKGSCGS	ELKDPLAKTS	GSSCATKKAS	R