AiPD: Autoinhibited Protein Database

O00144

Gene name	FZD9 (FZD3)
Protein name	Frizzled-9
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8326
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

127-230 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

127-230 (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 O00144

Entry ID	Method	Resolution	Chain	Position	Source
AF-O00144-F1	Predicted				AlphaFoldDB

534 variants for O00144

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA367778500 rs1479547992	3	V>M		No	ClinGen TOPMed
CA367778526 rs1199239605	7	R>P		No	ClinGen TOPMed gnomAD
CA367778525 rs1199239605	7	R>Q		No	ClinGen TOPMed gnomAD
CA367778537 rs1197927604	9	A>E		No	ClinGen TOPMed
rs1554563136 CA367778591	18	A>V		No	ClinGen gnomAD
CA4286864 rs782003819	20	G>S		No	ClinGen ExAC gnomAD
CA367778620 rs1201234496	23	L>P		No	ClinGen TOPMed
CA367778625 rs1275096178	24	E>A		No	ClinGen TOPMed gnomAD
rs782438219 CA4286866	24	E>D		No	ClinGen ExAC gnomAD
rs1343799030 CA367778624	24	E>K		No	ClinGen TOPMed
CA4286867 rs781927126	27	R>L		No	ClinGen ExAC gnomAD
CA4286869 CA367778653 rs782731406	28	F>L		No	ClinGen ExAC TOPMed gnomAD
CA367778656 rs868937985	29	D>A		No	ClinGen Ensembl
rs1554563145 CA367778659	29	D>E		No	ClinGen gnomAD
rs781851365 CA4286870	29	D>N		No	ClinGen ExAC gnomAD
CA367778658 rs868937985	29	D>V		No	ClinGen Ensembl
rs1554563146 CA367778662	30	P>A		No	ClinGen gnomAD
CA367778663 rs1554563146	30	P>S		No	ClinGen gnomAD
rs1333160658 CA367778670	31	E>A		No	ClinGen TOPMed
rs1333160658 CA367778672	31	E>V		No	ClinGen TOPMed
CA367778678 rs1305398764	32	R>H		No	ClinGen TOPMed
CA4286871 rs782128581	34	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1554563155 CA367778696	35	G>A		No	ClinGen gnomAD
rs1333375420 CA367778693	35	G>R		No	ClinGen TOPMed gnomAD
rs1554563156 CA367778699	36	A>S		No	ClinGen gnomAD
CA367778703 rs1554563158	36	A>V		No	ClinGen gnomAD
CA4286872 rs782793152	37	A>V		No	ClinGen ExAC TOPMed gnomAD
rs559302614 CA4286873	38	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559302614 CA367778713	38	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1361834097 CA367778733	41	A>E		No	ClinGen TOPMed gnomAD
CA367778735 rs1361834097	41	A>V		No	ClinGen TOPMed gnomAD
CA4286876 rs781822452	43	E>K		No	ClinGen ExAC gnomAD
CA367778760 rs1239975749	45	P>R		No	ClinGen TOPMed
CA367778763 rs1554563167	46	M>V		No	ClinGen gnomAD
rs1181159872 CA367778781	48	R>C		No	ClinGen TOPMed
rs782497063 CA4286878	48	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1201817320 CA367778797	51	G>S		No	ClinGen TOPMed gnomAD
CA4286880 rs200757525	52	Y>*		No	ClinGen ExAC gnomAD
rs1554563179 CA367778808	52	Y>C		No	ClinGen gnomAD
rs782410069 CA4286881	53	N>K		No	ClinGen ExAC gnomAD
rs782689397 CA4286882	54	L>M		No	ClinGen ExAC gnomAD
rs782689397 CA367778817	54	L>V		No	ClinGen ExAC gnomAD
rs781964820 CA4286885	56	R>H		No	ClinGen ExAC gnomAD
rs781964820 CA367778831	56	R>L		No	ClinGen ExAC gnomAD
rs782389995 CA4286887	57	M>I		No	ClinGen ExAC gnomAD
CA4286886 rs782103545	57	M>T		No	ClinGen ExAC gnomAD
rs1554563194 CA367778855	60	L>R		No	ClinGen gnomAD
CA4286888 rs782015381	62	G>S		No	ClinGen ExAC gnomAD
TCGA novel	64	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367778886 rs1554563201	65	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA367778890 rs1563353972	66	Q>*		No	ClinGen Ensembl
rs782695258 CA4286890	67	G>S		No	ClinGen ExAC gnomAD
rs1339937594 CA367778946	75	E>K		No	ClinGen TOPMed gnomAD
CA367778951 rs1563353996	75	E>V		No	ClinGen Ensembl
rs1334996848 CA367778962	77	A>T		No	ClinGen TOPMed gnomAD
rs782079145 CA4286892	77	A>V		No	ClinGen ExAC gnomAD
CA4286895 rs781854794	78	P>A		No	ClinGen ExAC gnomAD
rs781854794 CA4286894	78	P>S		No	ClinGen ExAC gnomAD
CA4286896 rs782798543	80	V>M		No	ClinGen ExAC gnomAD
rs372060832 CA367778993	82	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4286898 rs372060832	82	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367778990 rs1416324972	82	Y>H		No	ClinGen TOPMed
rs201878512 CA4286899	83	G>A		No	ClinGen ExAC gnomAD
rs1554563213 CA367778998	83	G>C		No	ClinGen gnomAD
rs1554563221 CA367779034	88	L>V		No	ClinGen gnomAD
rs782634341 CA4286902	89	R>C		No	ClinGen ExAC gnomAD
CA367779048 rs1583871478	90	F>C		No	ClinGen Ensembl
rs1554563225 CA367779066	93	C>G		No	ClinGen gnomAD
CA4286903 rs782268651	93	C>W		No	ClinGen ExAC gnomAD
rs782199592 CA4286906	96	Y>C		No	ClinGen ExAC gnomAD
CA367779093 rs1554563229	97	A>E		No	ClinGen gnomAD
rs1554563229 CA367779095	97	A>V		No	ClinGen gnomAD
TCGA novel	98	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554563235 CA367779109	99	M>I		No	ClinGen gnomAD
rs782111677 CA4286909	102	D>N		No	ClinGen ExAC gnomAD
CA367779134 rs1554563240	103	Q>*		No	ClinGen gnomAD
rs782797612 CA4286910	103	Q>R		No	ClinGen ExAC gnomAD
rs1189038348 CA367779139	104	V>I		No	ClinGen TOPMed gnomAD
rs782016785 CA4286911	105	S>P		No	ClinGen ExAC gnomAD
CA367779152 rs1563354103	106	T>S		No	ClinGen Ensembl
rs781814209 CA4286914	107	P>L		No	ClinGen ExAC gnomAD
CA4286913 rs782704580	107	P>T		No	ClinGen ExAC gnomAD
CA4286915 rs782476477	108	I>V		No	ClinGen ExAC gnomAD
CA4286916 rs782757278	109	P>R		No	ClinGen ExAC gnomAD
rs1216288652 CA367779185	112	R>G		No	ClinGen TOPMed gnomAD
rs1288678390 CA367779189	112	R>L		No	ClinGen TOPMed gnomAD
rs1288678390 CA367779187	112	R>Q		No	ClinGen TOPMed gnomAD
rs1216288652 CA367779186	112	R>W		No	ClinGen TOPMed gnomAD
rs776325053 CA4286919	113	P>L		No	ClinGen ExAC TOPMed gnomAD
rs371558043 CA160067069	113	P>S		No	ClinGen Ensembl
rs1356269300 CA367779194	114	M>L		No	ClinGen TOPMed gnomAD
rs1356269300 CA367779196	114	M>V		No	ClinGen TOPMed gnomAD
CA367779203 rs1284798043	115	C>S		No	ClinGen TOPMed
CA367779211 rs1554563253	116	E>K		No	ClinGen gnomAD
rs112773403 CA160067084	117	Q>P		No	ClinGen Ensembl
rs1338658283 CA367779226	118	A>T		No	ClinGen TOPMed
CA367779245 rs1554563256 COSM1568888	121	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	121	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1400893164 CA367779248	121	R>L		No	ClinGen TOPMed
CA367779255 rs1161513152	122	C>*		No	ClinGen TOPMed gnomAD
CA4286923 rs782600769	123	A>T		No	ClinGen ExAC gnomAD
CA367779274 rs1554563264	125	I>M		No	ClinGen gnomAD
CA367779269 rs1404627103	125	I>V		No	ClinGen TOPMed gnomAD
CA4286926 rs782000137	126	M>V		No	ClinGen ExAC TOPMed gnomAD
CA367779291 rs1554563267	128	Q>*		No	ClinGen gnomAD
CA367779311 rs1554563269	130	N>I		No	ClinGen gnomAD
rs782418729 CA367779325	132	G>A		No	ClinGen ExAC TOPMed gnomAD
rs782418729 CA4286929	132	G>D		No	ClinGen ExAC TOPMed gnomAD
rs782278157 CA4286928	132	G>R		No	ClinGen ExAC TOPMed gnomAD
CA367779324 rs782278157	132	G>S		No	ClinGen ExAC TOPMed gnomAD
CA4286930 rs782418729	132	G>V		No	ClinGen ExAC TOPMed gnomAD
CA4286932 rs782351404	133	W>*		No	ClinGen ExAC gnomAD
CA4286931 rs782073205	133	W>*		No	ClinGen ExAC gnomAD
CA4286933 rs781972322	134	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781972322 CA367779337	134	P>R		No	ClinGen ExAC gnomAD
CA367779333 rs1554563273	134	P>S		No	ClinGen gnomAD
rs1489107305 CA367779340	135	D>Y		No	ClinGen TOPMed gnomAD
CA4286935 rs538778244	138	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372342933 CA367779371	139	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA367779378 rs1230570552	140	A>V		No	ClinGen TOPMed
rs1554563281 CA367779382	141	R>L		No	ClinGen gnomAD
CA4286937 rs782047303	141	R>W		No	ClinGen ExAC TOPMed gnomAD
rs782702023 CA4286938	144	T>P		No	ClinGen ExAC gnomAD
rs1554563284 CA367779400	145	R>G		No	ClinGen gnomAD
CA367779402 rs782636147	145	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4286941 rs782636147	145	R>L		No	ClinGen ExAC TOPMed gnomAD
CA367779416 rs1554563292	147	D>G		No	ClinGen gnomAD
rs1342614883 CA367779425	148	P>Q		No	ClinGen TOPMed
rs781871788 CA4286942	149	H>Q		No	ClinGen ExAC gnomAD
CA367779436 rs1435523202	150	A>E		No	ClinGen TOPMed gnomAD
rs1291513232 CA367779433	150	A>T		No	ClinGen TOPMed gnomAD
rs1350354391 CA367779447	152	C>S		No	ClinGen TOPMed gnomAD
rs1554563295 CA367779454	153	M>L		No	ClinGen gnomAD
rs1554563299 CA367779465	154	E>G		No	ClinGen gnomAD
CA367779462 rs1554563297	154	E>Q		No	ClinGen gnomAD
rs1325404653 CA367779477	156	P>S		No	ClinGen TOPMed
rs1170781570 CA367779483	157	E>*		No	ClinGen TOPMed gnomAD
CA367779481 rs1170781570	157	E>K		No	ClinGen TOPMed gnomAD
CA367779484 rs1478566511	157	E>V		No	ClinGen TOPMed
rs1554563309 CA367779499	159	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	159	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367779506 rs1554563310	160	T>K		No	ClinGen gnomAD
CA367779512 rs1554563311	161	A>D		No	ClinGen gnomAD
CA367779514 rs1554563311	161	A>V		No	ClinGen gnomAD
CA367779515 rs1426798842	162	G>S		No	ClinGen TOPMed
TCGA novel	164	A>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782692525 CA4286944	164	A>T		No	ClinGen ExAC
CA4286946 rs782330628	167	H>D		No	ClinGen ExAC gnomAD
rs1257427741 CA367779567	170	L>M		No	ClinGen TOPMed gnomAD
rs1554563317 CA367779576	171	G>D		No	ClinGen gnomAD
CA367779597 rs1554563320	174	P>L		No	ClinGen gnomAD
CA367779599 rs1554563322	175	V>L		No	ClinGen gnomAD
CA367779608 rs1554563330	176	A>E		No	ClinGen gnomAD
rs1554563327 CA367779604	176	A>S		No	ClinGen gnomAD
CA367779615 rs1563354348	177	P>L		No	ClinGen Ensembl
CA367779616 rs1554563331	178	R>W		No	ClinGen gnomAD
rs1276469452 CA367779624	179	P>R		No	ClinGen TOPMed
rs1444400608 CA367779631	180	A>G		No	ClinGen TOPMed gnomAD
CA367779627 rs1554563332	180	A>T		No	ClinGen gnomAD
CA367779633 rs1554563334	181	R>S		No	ClinGen gnomAD
rs1554563335 CA367779644	182	P>L		No	ClinGen gnomAD
rs1331376416 CA367779647	183	P>S		No	ClinGen TOPMed gnomAD
CA367779651 rs1356972019	184	G>R		No	ClinGen TOPMed gnomAD
CA367779673 rs1554563346	187	G>D		No	ClinGen gnomAD
CA367779681 rs1426307014	188	P>L		No	ClinGen TOPMed gnomAD
rs1414739487 CA367779676	188	P>S		No	ClinGen TOPMed
rs769369970 CA4286951	189	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1554563350 CA367779687	190	A>T		No	ClinGen gnomAD
CA367779698 rs1554563351	191	G>V		No	ClinGen gnomAD
rs575621716 CA160067294	192	G>D		No	ClinGen 1000Genomes TOPMed gnomAD
COSM4139357 rs782300865 CA4286952	192	G>S	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1459118499 CA367779733	197	E>Q		No	ClinGen TOPMed
rs17852398 CA160067300	199	P>R		No	ClinGen Ensembl
CA4286954 rs782077630	199	P>S		No	ClinGen ExAC gnomAD
rs1554563364 CA367779756	200	E>D		No	ClinGen Ensembl
rs782136427 CA4286957	200	E>G		No	ClinGen ExAC TOPMed gnomAD
rs781853577 CA4286956	200	E>K		No	ClinGen ExAC gnomAD
rs782795346 CA4286958	201	K>N		No	ClinGen ExAC TOPMed gnomAD
CA367779765 rs1313006296	202	F>L		No	ClinGen TOPMed
rs1280407029 CA367779790	205	V>L		No	ClinGen TOPMed gnomAD
rs1280407029 CA367779788	205	V>M		No	ClinGen TOPMed gnomAD
rs1554563370 CA367779803	207	K>E		No	ClinGen gnomAD
CA367779818 rs375403747	209	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs782580729 CA4286961	209	R>H		No	ClinGen ExAC gnomAD
rs375403747 CA4286960	209	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA367779823 rs1554563378	210	S>P		No	ClinGen gnomAD
CA367779834 rs1554563384	211	C>*		No	ClinGen gnomAD
rs1554563382 CA367779829	211	C>R		No	ClinGen gnomAD
CA367779836 rs1309852211 COSM1207718	212	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1376327965 CA367779845	213	P>L		No	ClinGen TOPMed
rs1376327965 CA367779844	213	P>Q		No	ClinGen TOPMed
rs1376327965 CA367779846	213	P>R		No	ClinGen TOPMed
rs781828087 CA4286962	213	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1360551989 CA367779850	214	R>H		No	ClinGen TOPMed gnomAD
rs1360551989 CA367779851	214	R>L		No	ClinGen TOPMed gnomAD
CA367779870 rs1554563389	217	P>L		No	ClinGen gnomAD
rs1175866183 CA367779875	218	G>C		No	ClinGen TOPMed gnomAD
rs782651060 CA4286964	218	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1175866183 CA367779873	218	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1015078235 CA160067396	223	W>*		No	ClinGen Ensembl
TCGA novel	224	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs971589447 CA160067397	225	R>Q		No	ClinGen Ensembl
CA367779935 rs1554563396	225	R>W		No	ClinGen gnomAD
rs1554563399 CA367779948	226	R>L		No	ClinGen gnomAD
rs782340783 CA367779956	227	D>N		No	ClinGen ExAC TOPMed gnomAD
rs782340783 CA4286969	227	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1554563403 CA367779977	228	K>R		No	ClinGen gnomAD
rs141168260 CA160067425	230	F>L		No	ClinGen ESP ExAC gnomAD
rs782243429 CA4286971	231	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	231	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367780031 rs782023448	233	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4286973 rs782023448	233	V>L		No	ClinGen ExAC TOPMed gnomAD
CA367780052 rs1554563406	234	W>C		No	ClinGen gnomAD
rs782170377 CA4286974	236	A>V		No	ClinGen ExAC gnomAD
CA4286975 rs782703347	237	V>L		No	ClinGen ExAC gnomAD
rs782703347 CA367780083	237	V>M		No	ClinGen ExAC gnomAD
rs1554563410 CA367780125	240	A>V		No	ClinGen gnomAD
rs782085952 CA4286978	243	F>C		No	ClinGen ExAC gnomAD
TCGA novel	243	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4286981 COSM453342 rs782538318	247	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1311312226 CA367780220	249	T>P		No	ClinGen TOPMed
rs1554563421 CA367780227	249	T>S		No	ClinGen gnomAD
CA160067494 rs558152721	251	L>F		No	ClinGen 1000Genomes
rs1554563424 CA367780250	251	L>P		No	ClinGen gnomAD
rs781785546 CA4286983	252	T>A		No	ClinGen ExAC gnomAD
CA367780266 rs1228416720	253	F>V		No	ClinGen TOPMed
TCGA novel	253	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367780294 rs1554563429	256	E>K		No	ClinGen gnomAD
CA367780312 rs1554563431	257	P>S		No	ClinGen gnomAD
CA367780327 rs1554563432	258	H>L		No	ClinGen gnomAD
rs1034602722 CA160067520	258	H>Q		No	ClinGen gnomAD
CA4286984 rs373157288	258	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554563434 CA367780336	259	R>C		No	ClinGen gnomAD
CA367780338 rs1554563436	259	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA367780342 rs1554563436	259	R>P		No	ClinGen gnomAD
CA4286985 rs782599690	261	Q>*		No	ClinGen ExAC gnomAD
CA367780362 rs1295926214	261	Q>P		No	ClinGen TOPMed
CA160067539 rs376108024	264	E>*		No	ClinGen ExAC gnomAD
CA4286987 rs376108024	264	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs376132966 CA4286990	265	R>G		No	ClinGen ESP ExAC gnomAD
rs1455756838 CA367780405	265	R>L		No	ClinGen TOPMed gnomAD
CA4286989 rs376132966	265	R>S		No	ClinGen ESP ExAC gnomAD
rs1554563444 CA367780414	267	I>V		No	ClinGen gnomAD
CA367780423 rs1367262158	268	I>V		No	ClinGen TOPMed gnomAD
rs1424442556 CA367780453	272	M>R		No	ClinGen TOPMed
rs1554563451 CA367780469	274	Y>C		No	ClinGen Ensembl
rs1554563451 CA367780470	274	Y>S		No	ClinGen Ensembl
rs782203045 CA4286992	275	N>K		No	ClinGen ExAC gnomAD
CA367780477 rs1420177208	275	N>S		No	ClinGen TOPMed
CA367780492 rs1191763746	277	Y>*		No	ClinGen TOPMed
CA367780490 rs1554563456	277	Y>C		No	ClinGen gnomAD
rs1554563454 CA367780487	277	Y>H		No	ClinGen gnomAD
rs782778281 CA4286996	284	R>L		No	ClinGen ExAC gnomAD
CA367780535 rs782778281	284	R>P		No	ClinGen ExAC gnomAD
CA367780541 COSM1091551 rs1245478277	285	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1563354634 CA367780557	288	G>E		No	ClinGen Ensembl
rs782039651 CA4286998	289	A>E		No	ClinGen ExAC gnomAD
CA367780562 rs1563354652	289	A>S		No	ClinGen Ensembl
CA367780560 rs1563354652	289	A>T		No	ClinGen Ensembl
CA367780578 rs1554563464	291	S>I		No	ClinGen gnomAD
CA367780576 rs1554563464	291	S>N		No	ClinGen gnomAD
rs567917703 CA4287000	292	V>L		No	ClinGen ExAC gnomAD
rs567917703 CA4287001	292	V>M		No	ClinGen ExAC gnomAD
CA4287002 rs782761805	293	A>S		No	ClinGen ExAC gnomAD
CA367780591 rs1217625707	294	C>R		No	ClinGen TOPMed gnomAD
CA367780590 COSM1637780 rs1217625707	294	C>S	bone [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA4287005 rs73134914	295	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367780603 rs1583872360	295	D>E		No	ClinGen Ensembl
rs782546523 CA4287004	295	D>H		No	ClinGen ExAC gnomAD
CA367780608 rs1554563466	296	Q>R		No	ClinGen gnomAD
CA367780612 rs1279188898	297	E>K		No	ClinGen TOPMed
CA4287006 rs781793071	298	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782237874 COSM3784084 CA4287009	300	A>T	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs781960801 CA160067682	300	A>V		No	ClinGen TOPMed gnomAD
CA367780645 rs1168629728	302	Y>F		No	ClinGen TOPMed gnomAD
CA160067693 rs946134081	302	Y>H		No	ClinGen Ensembl
rs782657739 CA4287011	303	V>M		No	ClinGen ExAC gnomAD
TCGA novel	305	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367780672 rs1554563474	306	E>G		No	ClinGen gnomAD
rs782281964 CA4287012	307	G>D		No	ClinGen ExAC gnomAD
rs782281964 CA4287013	307	G>V		No	ClinGen ExAC gnomAD
CA367780692 rs1554563477	308	L>Q		No	ClinGen gnomAD
CA4287014 rs781928891	311	T>R		No	ClinGen ExAC TOPMed gnomAD
CA367780743 rs782357130	313	C>G		No	ClinGen ExAC gnomAD
rs782357130 CA4287016	313	C>S		No	ClinGen ExAC gnomAD
CA367780764 rs1431198105	314	T>M		No	ClinGen TOPMed gnomAD
rs1431198105 CA367780763	314	T>R		No	ClinGen TOPMed gnomAD
CA4287017 rs781980067	314	T>S		No	ClinGen ExAC gnomAD
rs1554563482 CA367780770	315	L>P		No	ClinGen gnomAD
rs1554563485 CA367780803	318	L>P		No	ClinGen gnomAD
rs1554563487 CA367780833	321	Y>C		No	ClinGen gnomAD
rs782796354 CA4287019	323	F>V		No	ClinGen ExAC TOPMed gnomAD
CA4287021 rs782048293	324	G>R		No	ClinGen ExAC gnomAD
CA367780869 rs782048293 COSM3412268	324	G>S	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1318124551 CA367780883	325	M>V		No	ClinGen TOPMed
CA4287022 rs782730610	330	W>*		No	ClinGen ExAC
CA160067766 rs782101484	331	W>*		No	ClinGen TOPMed gnomAD
CA367780965 rs1230670622	331	W>*		No	ClinGen TOPMed
CA367780958 rs1583872470	331	W>G		No	ClinGen Ensembl
CA367780974 rs1554563497	332	V>E		No	ClinGen gnomAD
CA367780978 rs1554563497	332	V>G		No	ClinGen gnomAD
CA4287023 rs781824483	332	V>L		No	ClinGen ExAC gnomAD
rs1583872486 CA367780987	333	V>G		No	ClinGen Ensembl
CA367780992 rs1563354781	334	L>V		No	ClinGen Ensembl
CA367781007 rs1329700001	335	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	336	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA367781068 rs1554563501	341	A>T		No	ClinGen gnomAD
CA4287025 rs782640518	342	A>P		No	ClinGen ExAC gnomAD
CA367781085 rs1554563503	342	A>V		No	ClinGen gnomAD
CA160067806 rs559231844 COSM1313264	343	G>R	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs559231844 CA4287027	343	G>W		No	ClinGen ExAC gnomAD
rs782332524 CA4287030	349	E>D		No	ClinGen ExAC TOPMed gnomAD
CA367781174 rs1329341077	349	E>G		No	ClinGen TOPMed gnomAD
rs782187612 CA4287029	349	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1554563508 CA367781186	350	A>V		No	ClinGen gnomAD
rs1583872536 CA367781212	352	E>D		No	ClinGen Ensembl
CA4287032 rs782238168	355	G>D		No	ClinGen ExAC gnomAD
rs921189985 CA160067840	355	G>S		No	ClinGen TOPMed gnomAD
rs1554563509 CA367781297	359	H>R		No	ClinGen gnomAD
rs782017831 CA367781309	360	M>L		No	ClinGen ExAC gnomAD
rs1583872574 CA367781311	360	M>R		No	ClinGen Ensembl
rs782017831 CA4287034	360	M>V		No	ClinGen ExAC gnomAD
CA367781328 rs1376847874	361	A>G		No	ClinGen TOPMed gnomAD
CA367781330 rs1376847874	361	A>V		No	ClinGen TOPMed gnomAD
CA367781334 rs1554563511	362	A>S		No	ClinGen gnomAD
rs1199307584 CA367781362	364	G>S		No	ClinGen TOPMed
rs782166013 CA4287035	366	P>A		No	ClinGen ExAC gnomAD
CA4287036 rs782311502	366	P>H		No	ClinGen ExAC gnomAD
rs369598057 CA4287040	367	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA160067852 rs542138331	367	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA4287039 rs369598057	367	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554563516 CA367781411	369	K>E		No	ClinGen gnomAD
rs111619218 CA160067875	372	V>A		No	ClinGen gnomAD
rs930955244 CA160067873	372	V>I		No	ClinGen gnomAD
rs930955244 CA367781449	372	V>L		No	ClinGen gnomAD
rs886801517 CA160067885	373	I>N		No	ClinGen TOPMed gnomAD
CA367781465 rs886801517	373	I>S		No	ClinGen TOPMed gnomAD
rs782449413 CA4287044	375	T>N		No	ClinGen ExAC gnomAD
rs782509182 CA4287047	377	R>C		No	ClinGen ExAC gnomAD
CA4287048 rs373485212	377	R>H		No	ClinGen ESP ExAC gnomAD
rs373485212 CA367781489	377	R>L		No	ClinGen ESP ExAC gnomAD
CA4287049 rs782278695	378	K>E		No	ClinGen ExAC gnomAD
CA367781509 rs1554563531 COSM1131528	380	A>V	prostate [Cosmic]	No	ClinGen cosmic curated gnomAD
CA4287051 rs782569037	381	G>D		No	ClinGen ExAC gnomAD
rs1235509743 CA367781537	385	T>A		No	ClinGen TOPMed
rs1307667599 CA367781548	387	L>I		No	ClinGen TOPMed
TCGA novel	388	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4287054 rs781982258	389	Y>C		No	ClinGen ExAC gnomAD
rs782220417 CA4287055	390	V>L		No	ClinGen ExAC gnomAD
rs782220417 CA367781569	390	V>M		No	ClinGen ExAC gnomAD
CA367781582 rs1554563538	392	S>C		No	ClinGen gnomAD
CA367781591 rs1377721028	393	T>K		No	ClinGen TOPMed
CA367781595 rs1394440286	394	D>H		No	ClinGen TOPMed gnomAD
CA367781616 rs1554563541	397	A>E		No	ClinGen gnomAD
CA4287057 rs781928707	397	A>P		No	ClinGen ExAC gnomAD
rs1172909758 CA367781626	399	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA160067978 rs202037150	399	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4287058 rs202037150	399	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA367781634 rs1234047013	400	G>D		No	ClinGen TOPMed gnomAD
rs1554563549 CA367781643	402	V>M		No	ClinGen gnomAD
CA4287062 rs782741814	404	V>A		No	ClinGen ExAC gnomAD
CA4287061 rs145921800	404	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA160068013 rs199961288	406	L>F		No	ClinGen gnomAD
CA367781670 rs1256459314	407	S>P		No	ClinGen TOPMed
CA367781678 rs868993339	408	G>D		No	ClinGen Ensembl
CA367781690 rs1554563555	410	L>V		No	ClinGen gnomAD
CA4287065 rs532621192	411	V>A		No	ClinGen 1000Genomes ExAC gnomAD
rs781906732 CA4287066	412	L>P		No	ClinGen ExAC gnomAD
CA367781712 rs1212625563	414	S>N		No	ClinGen TOPMed gnomAD
rs1583872799 CA367781744	419	T>P		No	ClinGen Ensembl
COSM1451962 rs1554563556 CA367781752	420	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs547599913 CA4287068	422	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA4287069 rs782243057	423	A>D		No	ClinGen ExAC gnomAD
CA367781771 rs1554563559	423	A>S		No	ClinGen gnomAD
CA367781787 rs1563355015	425	F>L		No	ClinGen Ensembl
CA367781790 rs1554563562	426	H>Y		No	ClinGen gnomAD
rs1240049086 CA367781805	428	R>C		No	ClinGen TOPMed gnomAD
COSM1091552 CA4287070 rs782493264	428	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs782493264 CA4287071	428	R>L		No	ClinGen ExAC gnomAD
CA367781817 rs1554563563	430	I>F		No	ClinGen gnomAD
rs201244210 CA4287072	430	I>T		No	ClinGen 1000Genomes ExAC
rs1583872850 CA367781823	431	M>K		No	ClinGen Ensembl
rs114980092 CA160068073	431	M>V		No	ClinGen 1000Genomes
rs201104999 CA4287073	432	K>R		No	ClinGen ExAC TOPMed gnomAD
CA4287074 rs370867927	433	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs370867927 CA367781840	433	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs782381088 CA4287076	434	G>C		No	ClinGen ExAC gnomAD
CA4287078 rs782088568	435	G>S		No	ClinGen ExAC TOPMed gnomAD
CA367781862 rs1554563565	437	N>I		No	ClinGen gnomAD
CA4287079 rs202155373	438	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781874253 CA4287083	445	M>V		No	ClinGen ExAC gnomAD
CA4287084 rs17856756	448	I>V		No	ClinGen ExAC gnomAD
CA367781942 rs1160908709	449	G>R		No	ClinGen TOPMed
CA160068152 rs781794887	450	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4287086 rs781794887	450	V>I		No	ClinGen ExAC TOPMed gnomAD
CA367781960 rs1583872943	452	S>P		No	ClinGen Ensembl
CA4287089 rs781893880	453	I>M		No	ClinGen ExAC gnomAD
rs782572116 CA4287088	453	I>V		No	ClinGen ExAC gnomAD
CA367781972 rs1487140215	454	L>F		No	ClinGen TOPMed
TCGA novel	454	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1487140215 CA367781971	454	L>V		No	ClinGen TOPMed
rs782536484 CA4287090	455	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA367781983 rs1583872958	456	T>P		No	ClinGen Ensembl
rs1554563583 CA367781992	457	V>E		No	ClinGen gnomAD
CA367781991 rs1554563582	457	V>L		No	ClinGen gnomAD
rs201201261 CA4287092	458	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs782640636 CA4287091	458	P>T		No	ClinGen ExAC gnomAD
TCGA novel	459	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4287095 rs373097291	459	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4287096 rs373097291	459	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1583872981 CA367782003	460	T>P		No	ClinGen Ensembl
rs1554563587 CA367782015	461	C>*		No	ClinGen gnomAD
rs371067074 CA4287098	462	V>I	Variant assessed as Somatic; 0.0004632 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA4287099 rs782125902	463	I>F		No	ClinGen ExAC gnomAD
CA367782023 rs782125902	463	I>V		No	ClinGen ExAC gnomAD
CA4287101 rs781961539	464	V>F		No	ClinGen ExAC
rs1355718028 CA367782045	466	Y>C		No	ClinGen TOPMed gnomAD
CA367782041 rs1554563589	466	Y>N		No	ClinGen gnomAD
CA160068174 rs374521367	467	V>A		No	ClinGen ESP TOPMed
rs1235297079 CA367782055	468	Y>H		No	ClinGen TOPMed gnomAD
TCGA novel	468	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139948155 CA4287104	470	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA367782080 rs1277280245	471	L>P		No	ClinGen TOPMed
CA4287105 rs552835695	472	N>D		No	ClinGen 1000Genomes ExAC gnomAD
rs782778291 CA4287106	472	N>S		No	ClinGen ExAC TOPMed gnomAD
CA367782118 rs1554563596	476	W>*		No	ClinGen gnomAD
rs781860918 CA4287107	476	W>R		No	ClinGen ExAC gnomAD
rs921118075 CA160068200	477	R>P		No	ClinGen TOPMed gnomAD
rs1390816222 CA367782134	479	R>P		No	ClinGen TOPMed gnomAD
CA367782133 rs1390816222	479	R>Q		No	ClinGen TOPMed gnomAD
CA4287109 rs782604860	480	A>T		No	ClinGen ExAC gnomAD
rs1166467049 CA367782140	480	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4287110 rs142802414	482	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs782684299 CA4287113	483	Q>L		No	ClinGen ExAC gnomAD
CA367782173 rs1193988828	485	C>W		No	ClinGen TOPMed
rs1554563601 CA367782176	486	A>S		No	ClinGen gnomAD
CA367782180 rs1554563602	486	A>V		No	ClinGen gnomAD
CA4287114 rs782273757	487	A>T		No	ClinGen ExAC gnomAD
rs574487516 CA160068227	489	A>E		No	ClinGen 1000Genomes
CA160068223 rs868913536	489	A>T		No	ClinGen TOPMed gnomAD
rs1451541821 CA367782198	490	G>W		No	ClinGen TOPMed
COSM1488669 CA4287117 rs776032343	492	G>R	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1554563607 CA367782215	493	G>C		No	ClinGen gnomAD
CA367782217 rs1554563608	493	G>V		No	ClinGen gnomAD
CA367782219 rs1554563613	494	R>G		No	ClinGen gnomAD
rs782339488 CA4287119	494	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554563613 CA367782220	494	R>W		No	ClinGen gnomAD
CA367782231 rs1554563615	496	D>N		No	ClinGen gnomAD
CA367782253 rs1257627061	498	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA367782262 rs1554563617	500	P>L		No	ClinGen gnomAD
CA4287123 rs367555625	501	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4287122 rs782413236	501	G>R		No	ClinGen ExAC gnomAD
CA160068254 rs939684845	502	G>D		No	ClinGen Ensembl
TCGA novel	503	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs906293096 CA160068263	507	V>M		No	ClinGen TOPMed gnomAD
rs781956465 CA4287126	508	A>V		No	ClinGen ExAC TOPMed gnomAD
CA367782312 rs1583873176	509	V>G		No	ClinGen Ensembl
CA4287127 rs782072490	509	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4287128 rs782703359	510	F>L		No	ClinGen ExAC gnomAD
CA4287129 rs781907193 CA367782320	511	M>L		No	ClinGen ExAC gnomAD
rs781907193 CA4287130	511	M>V		No	ClinGen ExAC gnomAD
TCGA novel	514	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200802560 CA4287132	514	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA160068282 rs1003019704	515	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	515	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150610032 CA4287134 COSM4006757	516	M>I	urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4287133 rs563493902	516	M>T		No	ClinGen 1000Genomes ExAC gnomAD
rs782429594 CA4287136	518	L>V		No	ClinGen ExAC gnomAD
rs1554563634 CA367782377	520	V>M		No	ClinGen gnomAD
rs17856757 CA367782405	524	S>N		No	ClinGen Ensembl
rs1055955184 CA160068327	525	G>S		No	ClinGen TOPMed gnomAD
rs782677223 CA4287137	526	V>I		No	ClinGen ExAC gnomAD
CA4287138 rs782677223	526	V>L		No	ClinGen ExAC gnomAD
rs1189855467 CA367782428	528	V>M		No	ClinGen TOPMed gnomAD
CA160068422 rs139673113	530	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554563643 CA367782468	531	S>F		No	ClinGen gnomAD
rs575573500 CA4287142	531	S>P		No	ClinGen 1000Genomes ExAC gnomAD
rs782170224 CA4287144	533	T>S		No	ClinGen ExAC gnomAD
rs782795530 CA4287146 CA4287145	534	F>L		No	ClinGen ExAC gnomAD
rs1554563646 CA367782502	534	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs782116233 CA4287147	536	T>I		No	ClinGen ExAC
rs782760881 CA4287148	539	S>G		No	ClinGen ExAC gnomAD
CA367782606 rs1254214049	542	Y>H		No	ClinGen TOPMed
rs1011824273 CA160068506	543	R>C		No	ClinGen TOPMed gnomAD
rs546151479 CA4287149	543	R>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4287150 rs142246324	544	K>T		No	ClinGen 1000Genomes ExAC gnomAD
CA4287151 rs782685746	545	I>K		No	ClinGen ExAC gnomAD
rs781899512 CA4287152	545	I>M		No	ClinGen ExAC gnomAD
CA367782648 rs782685746	545	I>T		No	ClinGen ExAC gnomAD
CA367782643 rs1554563657	545	I>V		No	ClinGen Ensembl
CA4287154 rs782645248	547	A>T		No	ClinGen ExAC gnomAD
CA367782696 rs1237708463	549	R>L		No	ClinGen TOPMed
CA367782688 rs1554563661	549	R>W		No	ClinGen Ensembl
CA160068554 rs1022336403	550	A>D		No	ClinGen Ensembl
TCGA novel	551	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782597771 CA4287159	551	R>Q		No	ClinGen ExAC gnomAD
CA4287158 rs782478821	551	R>W		No	ClinGen ExAC gnomAD
CA4287160 rs782180681	552	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4287163 rs782264029	556	R>C		No	ClinGen ExAC gnomAD
CA4287164 rs17852397	556	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA367782791 rs1019630729	557	A>G		No	ClinGen gnomAD
rs375512086 CA4287166	557	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA160068585 rs1019630729	557	A>V		No	ClinGen gnomAD
rs1554563676 CA367782795	558	P>A		No	ClinGen gnomAD
rs782320015 CA4287167	558	P>L		No	ClinGen ExAC gnomAD
CA4287169 rs782156410	559	G>R		No	ClinGen ExAC TOPMed gnomAD
rs782801976 CA4287170	560	S>R		No	ClinGen ExAC gnomAD
rs115751996 CA367782841	561	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA367782834 rs1554563680	561	Y>H		No	ClinGen gnomAD
CA4287172 rs782108423	562	G>R		No	ClinGen ExAC gnomAD
CA4287173 rs782739024	563	R>C		No	ClinGen ExAC TOPMed gnomAD
rs921087014 CA160068629	563	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1443851803 CA367782867	564	G>S		No	ClinGen TOPMed
rs781812011 CA4287175	565	T>K		No	ClinGen ExAC TOPMed gnomAD
CA4287174 rs781812011	565	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1554563689 CA367782911	567	C>*		No	ClinGen TOPMed
CA160068654 rs764538094	567	C>Y		No	ClinGen Ensembl
CA367782919 rs1174351100	568	H>R		No	ClinGen TOPMed gnomAD
CA367782931 rs1434455070	569	Y>S		No	ClinGen TOPMed
rs1563355504 CA367782958	571	A>T		No	ClinGen Ensembl
CA4287178 rs782514203	571	A>V		No	ClinGen ExAC gnomAD
CA4287179 COSM1451966 rs782644101	573	T>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA367782993 rs879962794	574	V>M		No	ClinGen Ensembl
CA367783007 rs1554563695	575	V>I		No	ClinGen gnomAD
rs1438458340 CA367783035	576	L>W		No	ClinGen TOPMed
rs149379186 CA160068659	578	M>V		No	ClinGen ESP TOPMed gnomAD
CA367783176 rs1235973230	582	D>V		No	ClinGen TOPMed
CA4287182 rs368559421	583	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA4287181 rs368559421	583	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554563701 CA367783282	587	N>T		No	ClinGen gnomAD
rs1485869886 CA367783305	588	P>L		No	ClinGen TOPMed gnomAD
CA4287183 rs782181076	589	T>K		No	ClinGen ExAC gnomAD
TCGA novel	589	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	590	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with O00144

3 regional properties for O00144

Type	Name	Position	InterPro Accession
domain	Frizzled/Smoothened, transmembrane domain	258 - 585	IPR000539
domain	GPCR, family 2-like, transmembrane domain	266 - 574	IPR017981
domain	Frizzled domain	65 - 186	IPR020067

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein	Relocalizes DVL1 to the cell membrane leading to phosphorylation of DVL1 and AXIN1 relocalization to the cell membrane
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
cell surface	The external part of the cell wall and/or plasma membrane.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
filopodium membrane	The portion of the plasma membrane surrounding a filopodium.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
Golgi apparatus	A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
mitochondrial membrane	Either of the lipid bilayers that surround the mitochondrion and form the mitochondrial envelope.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynapse	The part of a synapse that is part of the post-synaptic cell.

5 GO annotations of molecular function

Name	Definition
G protein-coupled receptor activity	Combining with an extracellular signal and transmitting the signal across the membrane by activating an associated G-protein; promotes the exchange of GDP for GTP on the alpha subunit of a heterotrimeric G-protein complex.
protein heterodimerization activity	Binding to a nonidentical protein to form a heterodimer.
protein homodimerization activity	Binding to an identical protein to form a homodimer.
Wnt receptor activity	Combining with a Wnt protein and transmitting the signal across the plasma membrane to initiate a change in cell activity.
Wnt-protein binding	Binding to a Wnt-protein, a secreted growth factor involved in signaling.

22 GO annotations of biological process

Name	Definition
B cell differentiation	The process in which a precursor cell type acquires the specialized features of a B cell. A B cell is a lymphocyte of B lineage with the phenotype CD19-positive and capable of B cell mediated immunity.
bone regeneration	The regrowth of bone following its loss or destruction.
canonical Wnt signaling pathway	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes. In this pathway, the activated receptor signals via downstream effectors that result in the inhibition of beta-catenin phosphorylation, thereby preventing degradation of beta-catenin. Stabilized beta-catenin can then accumulate and travel to the nucleus to trigger changes in transcription of target genes.
learning or memory	The acquisition and processing of information and/or the storage and retrieval of this information over time.
negative regulation of mitochondrial depolarization	Any process that stops, prevents, or reduces the frequency, rate or extent of the change in the membrane potential of the mitochondria from negative to positive.
negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway.
negative regulation of necroptotic process	Any process that decreases the rate, frequency or extent of a necroptotic process, a necrotic cell death process that results from the activation of endogenous cellular processes, such as signaling involving death domain receptors or Toll-like receptors.
negative regulation of neuron apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process in neurons.
negative regulation of skeletal muscle acetylcholine-gated channel clustering	Any process that stops, prevents or reduces the frequency, rate or extent of skeletal muscle acetylcholine-gated channel clustering.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
neuroblast proliferation	The expansion of a neuroblast population by cell division. A neuroblast is any cell that will divide and give rise to a neuron.
ossification	The formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance.
positive regulation of apoptotic process	Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process.
positive regulation of bone mineralization	Any process that activates or increases the frequency, rate or extent of bone mineralization.
positive regulation of canonical Wnt signaling pathway	Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of neural precursor cell proliferation	Any process that activates or increases the frequency, rate or extent of neural precursor cell proliferation.
postsynapse organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a postsynapse.
regulation of cell cycle	Any process that modulates the rate or extent of progression through the cell cycle.
regulation of cytosolic calcium ion concentration	Any process involved in the maintenance of an internal steady state of calcium ions within the cytosol of a cell or between the cytosol and its surroundings.
regulation of postsynaptic cytosolic calcium ion concentration	Any process that regulates the concentration of calcium in the postsynaptic cytosol.
regulation of skeletal muscle acetylcholine-gated channel clustering	Any process that modulates the frequency, rate or extent of skeletal muscle acetylcholine-gated channel clustering.
release of cytochrome c from mitochondria	The process that results in the movement of cytochrome c from the mitochondrial intermembrane space into the cytosol, which is part of the apoptotic signaling pathway and leads to caspase activation.

23 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O19116	SFRP1	Secreted frizzled-related protein 1	Bos taurus (Bovine)	PR
Q9DEQ4	SFRP1	Secreted frizzled-related protein 1	Gallus gallus (Chicken)	PR
O57328	FZD1	Frizzled-1	Gallus gallus (Chicken)	PR
Q9IA96	SFRP2	Secreted frizzled-related protein 2	Gallus gallus (Chicken)	PR
O75084	FZD7	Frizzled-7	Homo sapiens (Human)	PR
Q14332	FZD2	Frizzled-2	Homo sapiens (Human)	PR
Q6FHJ7	SFRP4	Secreted frizzled-related protein 4	Homo sapiens (Human)	PR
Q8N474	SFRP1	Secreted frizzled-related protein 1	Homo sapiens (Human)	PR
Q96HF1	SFRP2	Secreted frizzled-related protein 2	Homo sapiens (Human)	PR
Q9ULW2	FZD10	Frizzled-10	Homo sapiens (Human)	PR
Q9UP38	FZD1	Frizzled-1	Homo sapiens (Human)	PR
O60353	FZD6	Frizzled-6	Homo sapiens (Human)	PR
Q9Z1N6	Sfrp4	Secreted frizzled-related sequence protein 4	Mus musculus (Mouse)	PR
P97299	Sfrp2	Secreted frizzled-related protein 2	Mus musculus (Mouse)	PR
Q8C4U3	Sfrp1	Secreted frizzled-related protein 1	Mus musculus (Mouse)	PR
O70421	Fzd1	Frizzled-1	Mus musculus (Mouse)	PR
Q9JIP6	Fzd2	Frizzled-2	Mus musculus (Mouse)	PR
Q61090	Fzd7	Frizzled-7	Mus musculus (Mouse)	PR
Q08463	Fzd1	Frizzled-1	Rattus norvegicus (Rat)	PR
Q9JLS4	Sfrp4	Secreted frizzled-related protein 4	Rattus norvegicus (Rat)	PR
Q08464	Fzd2	Frizzled-2	Rattus norvegicus (Rat)	PR
Q7YRN1	SFRP4	Secreted frizzled-related protein 4	Macaca mulatta (Rhesus macaque)	PR
Q5BL72	fzd7	Frizzled-7	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR

10	20	30	40	50	60
MAVAPLRGAL	LLWQLLAAGG	AALEIGRFDP	ERGRGAAPCQ	AVEIPMCRGI	GYNLTRMPNL
70	80	90	100	110	120
LGHTSQGEAA	AELAEFAPLV	QYGCHSHLRF	FLCSLYAPMC	TDQVSTPIPA	CRPMCEQARL
130	140	150	160	170	180
RCAPIMEQFN	FGWPDSLDCA	RLPTRNDPHA	LCMEAPENAT	AGPAEPHKGL	GMLPVAPRPA
190	200	210	220	230	240
RPPGDLGPGA	GGSGTCENPE	KFQYVEKSRS	CAPRCGPGVE	VFWSRRDKDF	ALVWMAVWSA
250	260	270	280	290	300
LCFFSTAFTV	LTFLLEPHRF	QYPERPIIFL	SMCYNVYSLA	FLIRAVAGAQ	SVACDQEAGA
310	320	330	340	350	360
LYVIQEGLEN	TGCTLVFLLL	YYFGMASSLW	WVVLTLTWFL	AAGKKWGHEA	IEAHGSYFHM
370	380	390	400	410	420
AAWGLPALKT	IVILTLRKVA	GDELTGLCYV	ASTDAAALTG	FVLVPLSGYL	VLGSSFLLTG
430	440	450	460	470	480
FVALFHIRKI	MKTGGTNTEK	LEKLMVKIGV	FSILYTVPAT	CVIVCYVYER	LNMDFWRLRA
490	500	510	520	530	540
TEQPCAAAAG	PGGRRDCSLP	GGSVPTVAVF	MLKIFMSLVV	GITSGVWVWS	SKTFQTWQSL
550	560	570	580	590
CYRKIAAGRA	RAKACRAPGS	YGRGTHCHYK	APTVVLHMTK	TDPSLENPTH	L