AiPD: Autoinhibited Protein Database

Q9ULW2

Gene name	FZD10
Protein name	Frizzled-10
Names
Species	Homo sapiens (Human)
KEGG Pathway	hsa:11211
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

116-227 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

116-227 (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

3 structures for Q9ULW2

Entry ID	Method	Resolution	Chain	Position	Source
7X8Q	X-ray	265 A	A/D	24-152	PDB
7X8T	X-ray	251 A	A/D/G/J	24-152	PDB
AF-Q9ULW2-F1	Predicted				AlphaFoldDB

574 variants for Q9ULW2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs750186490 CA6876481	2	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA245380156 rs750186490	2	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA245380162 rs111737070	3	R>G		No	ClinGen gnomAD
CA387248939 rs1409779644	3	R>L		No	ClinGen gnomAD
CA387248935 rs111737070	3	R>S		No	ClinGen gnomAD
CA6876482 rs760512421	4	P>L		No	ClinGen ExAC
rs753942059 CA6876484	6	P>A		No	ClinGen ExAC TOPMed gnomAD
rs755241901 CA6876485	6	P>L		No	ClinGen ExAC gnomAD
CA245380166 rs1047844421	7	R>H		No	ClinGen TOPMed gnomAD
rs1215480291 CA387249007	9	W>*		No	ClinGen TOPMed
TCGA novel	11	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6876487 rs199805392	11	V>G		No	ClinGen ExAC gnomAD
rs1300113428 CA387249041	11	V>L		No	ClinGen gnomAD
CA387249057 rs1395684757	12	L>M		No	ClinGen gnomAD
TCGA novel	13	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA245380176 rs1005984193	14	V>G		No	ClinGen Ensembl
rs1323617086 CA387249115	15	M>I		No	ClinGen TOPMed gnomAD
rs527990944 CA245380178	15	M>R		No	ClinGen Ensembl
rs527990944 CA387249108	15	M>T		No	ClinGen Ensembl
rs1272454940 CA387249124	16	G>D		No	ClinGen gnomAD
CA6876488 rs758946231	16	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6876489 rs566016475	17	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6876490 rs534150403	18	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1482035419 CA387249184	20	A>V		No	ClinGen gnomAD
rs1225450890 CA387249212	22	S>I		No	ClinGen TOPMed
rs200800452 CA6876491	22	S>R		No	ClinGen ExAC gnomAD
CA387249229 rs201208311	23	S>F		No	ClinGen 1000Genomes TOPMed gnomAD
CA387249219 rs202181794	23	S>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA245380192 rs202181794	23	S>T		No	ClinGen 1000Genomes TOPMed gnomAD
CA245380198 rs201208311	23	S>Y		No	ClinGen 1000Genomes TOPMed gnomAD
CA387249255 rs985505257	25	D>H		No	ClinGen gnomAD
CA245380199 rs985505257	25	D>N		No	ClinGen gnomAD
rs1346688476 CA387249264	25	D>V		No	ClinGen TOPMed
CA387249283 rs1357808384	26	M>I		No	ClinGen gnomAD
rs943306926 CA387249276	26	M>K		No	ClinGen gnomAD
rs200216509 CA6876493	26	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs943306926 CA245380200	26	M>R		No	ClinGen gnomAD
rs943306926 CA387249279	26	M>T		No	ClinGen gnomAD
rs200216509 CA6876494	26	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387249304 rs1447527108	27	E>D		No	ClinGen gnomAD
TCGA novel	27	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773696876 CA387249308	28	R>G		No	ClinGen ExAC gnomAD
rs1385058124 CA387249312	28	R>H		No	ClinGen gnomAD
rs773696876 CA6876495	28	R>S		No	ClinGen ExAC gnomAD
rs1406763732 CA387249365	32	G>C		No	ClinGen TOPMed
TCGA novel	33	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6876497 rs771976377	33	K>R		No	ClinGen ExAC gnomAD
CA387249405 rs1455894852	34	C>Y		No	ClinGen Ensembl
rs1364283750 CA387249423	35	Q>*		No	ClinGen gnomAD
CA6876499 rs556423688	36	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA387249439 rs773192478	36	P>S		No	ClinGen ExAC gnomAD
CA6876498 rs773192478	36	P>T		No	ClinGen ExAC gnomAD
CA387249477 rs1310251590	37	I>M		No	ClinGen gnomAD
TCGA novel	38	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1593019027 CA387249528	40	P>A		No	ClinGen Ensembl
rs766029066 CA6876500	40	P>L		No	ClinGen ExAC TOPMed gnomAD
rs766029066 CA387249533	40	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1186802114 CA387249560	41	M>K		No	ClinGen TOPMed
rs1476197207 CA387249594	43	K>R		No	ClinGen TOPMed
CA387249606 rs1462267616	44	D>N		No	ClinGen gnomAD
rs576227403 CA6876501	46	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1450585234 CA387249645 COSM320521	46	G>V	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6876502 rs564758683	47	Y>*		No	ClinGen ExAC gnomAD
CA387249691 rs1414311154	49	M>L		No	ClinGen TOPMed gnomAD
rs752799541 CA6876504	49	M>T		No	ClinGen ExAC
CA387249693 rs1414311154	49	M>V		No	ClinGen TOPMed gnomAD
CA245380238 rs376533946	50	T>I		No	ClinGen TOPMed gnomAD
rs929032210 CA245380239	52	M>V		No	ClinGen Ensembl
rs142916136 COSM328318 CA387249810	54	N>K	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA387249859 rs1431336918	57	G>D		No	ClinGen gnomAD
CA387249856 rs1389490438	57	G>R		No	ClinGen gnomAD
rs752049652 CA387249878	58	H>L		No	ClinGen ExAC gnomAD
rs752049652 CA6876507	58	H>P		No	ClinGen ExAC gnomAD
rs1365196904 CA387249885	58	H>Q		No	ClinGen gnomAD
CA6876508 rs757856444	59	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6876509 rs781365950	60	N>T		No	ClinGen ExAC gnomAD
CA6876510 rs555606586	63	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs754557108 CA6876511 COSM261048	64	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	67	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA245380261 rs1003608704	68	L>F		No	ClinGen gnomAD
rs1245542871 CA387250067	69	H>R		No	ClinGen gnomAD
rs1477904716 CA387250116	72	A>S		No	ClinGen gnomAD
CA6876513 rs778678017	73	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA6876512 rs778678017	73	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1215319386 CA387250128	73	P>T		No	ClinGen TOPMed
CA6876516 rs746899085	74	L>V		No	ClinGen ExAC gnomAD
rs776256274 CA6876518	75	V>M		No	ClinGen ExAC TOPMed gnomAD
CA387250186 rs1320188553	76	E>A		No	ClinGen gnomAD
rs1593019097 CA387250191	76	E>D		No	ClinGen Ensembl
rs1347983185 CA387250195	77	Y>H		No	ClinGen gnomAD
rs1303481461 CA387250214	78	G>C		No	ClinGen gnomAD
TCGA novel	78	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs550083428 CA6876520	79	C>W		No	ClinGen ExAC gnomAD
CA6876521 rs775916919	80	H>L		No	ClinGen ExAC gnomAD
rs775916919 CA387250250	80	H>P		No	ClinGen ExAC gnomAD
CA6876522 rs369861300	81	G>C		No	ClinGen ESP ExAC gnomAD
CA387250263 rs369861300	81	G>S		No	ClinGen ESP ExAC gnomAD
CA387250285 rs1593019109	82	H>D		No	ClinGen Ensembl
CA6876523 rs139041385	84	R>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA6876524 rs139041385	84	R>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA6876525 rs757667097	85	F>L		No	ClinGen ExAC gnomAD
CA6876526 rs768111324	89	S>W		No	ClinGen ExAC gnomAD
rs1271441909 CA387250449	90	L>V		No	ClinGen TOPMed gnomAD
rs778426298 CA6876529	92	A>E		No	ClinGen ExAC TOPMed gnomAD
rs778426298 CA387250467	92	A>G		No	ClinGen ExAC TOPMed gnomAD
rs199663032 CA6876528	92	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387250475 rs1161477729	93	P>R		No	ClinGen gnomAD
rs1444442764 CA387250506	95	C>G		No	ClinGen TOPMed
CA245380318 rs895378064	98	Q>*		No	ClinGen Ensembl
rs1404656452 CA387250577	99	V>F		No	ClinGen gnomAD
CA387250575 rs1404656452	99	V>L		No	ClinGen gnomAD
rs1479949307 CA387250633	102	P>A		No	ClinGen TOPMed
rs777223482 CA6876532	102	P>R		No	ClinGen ExAC gnomAD
CA245380337 rs1011179139	104	P>A		No	ClinGen Ensembl
CA387250673 rs1232336493	104	P>L		No	ClinGen TOPMed
CA245380338 rs778357040	105	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1309462136 CA387250726	107	R>W		No	ClinGen TOPMed
CA387250736 rs781245363	108	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6876535 rs781245363	108	V>I		No	ClinGen ExAC TOPMed gnomAD
CA245380342 rs1021343419	109	M>T		No	ClinGen TOPMed
CA387250752 rs1359962311	109	M>V		No	ClinGen TOPMed
CA245380346 rs1022439632	110	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs765552086 CA245380382	111	E>Q		No	ClinGen Ensembl
rs769560603 CA6876537	112	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA387250808 rs775442646	113	A>D		No	ClinGen ExAC gnomAD
CA6876538 rs775442646	113	A>G		No	ClinGen ExAC gnomAD
rs1204977180 CA387250819	114	R>G		No	ClinGen TOPMed gnomAD
rs1204977180 CA387250821	114	R>W		No	ClinGen TOPMed gnomAD
CA387250847 rs1251706944	115	L>P		No	ClinGen gnomAD
rs1185728473 CA387250865	116	K>N		No	ClinGen gnomAD
rs200092271 CA6876540	116	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs774544608 CA6876541	117	C>R		No	ClinGen ExAC gnomAD
COSM936961 rs767899069 CA6876543	118	S>F	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA6876544 rs751007002	119	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA387250909 rs751007002	119	P>R		No	ClinGen ExAC TOPMed gnomAD
CA387250921 rs1396972267	120	I>L		No	ClinGen gnomAD
rs766680908 CA6876546	121	M>I		No	ClinGen ExAC TOPMed gnomAD
CA387250957 rs1331833880	122	E>K		No	ClinGen gnomAD
rs201223026 CA6876547	123	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6876549 rs777449665	126	F>L		No	ClinGen ExAC gnomAD
CA387251037 rs1452805429	126	F>S		No	ClinGen gnomAD
TCGA novel	128	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387251085 rs1417804834	129	P>L		No	ClinGen TOPMed
CA6876552 rs112917999	130	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs756854914 CA6876551	130	D>N		No	ClinGen ExAC gnomAD
TCGA novel	135	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1177822450 CA387251198	135	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA387251210 rs1593019208	136	K>Q		No	ClinGen Ensembl
CA6876553 CA387251252 rs745764318	139	N>K		No	ClinGen ExAC gnomAD
CA387251273 rs1461826611	142	D>H		No	ClinGen gnomAD
TCGA novel	142	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1484115876 CA387251285	143	P>R		No	ClinGen TOPMed
TCGA novel	144	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769645215 CA6876554	144	N>S		No	ClinGen ExAC TOPMed gnomAD
CA6876555 rs779957850	145	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1373396114 CA387251307	146	L>Q		No	ClinGen gnomAD
CA6876557 rs768979118	147	C>W		No	ClinGen ExAC gnomAD
CA387251341 rs1593019221	148	M>T		No	ClinGen Ensembl
rs1170432200 CA387251334 COSM1492849	148	M>V	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA6876559 rs761795300	150	A>G		No	ClinGen ExAC gnomAD
rs774773609 CA6876558	150	A>P		No	ClinGen ExAC gnomAD
rs1343087990 CA387251395	151	P>S		No	ClinGen gnomAD
CA6876562 rs761203938	152	N>K		No	ClinGen ExAC TOPMed gnomAD
rs766910008 CA6876563	153	N>K		No	ClinGen ExAC TOPMed gnomAD
CA387251480 rs1307663266	154	G>D		No	ClinGen TOPMed
CA245380487 rs985841216	154	G>S		No	ClinGen TOPMed gnomAD
CA387251484 rs1307663266	154	G>V		No	ClinGen TOPMed
rs759948678 CA6876565	155	S>L		No	ClinGen ExAC gnomAD
CA387251544 rs1593019238	156	D>A		No	ClinGen Ensembl
CA245380501 CA387251548 rs964564427	156	D>E		No	ClinGen gnomAD
rs763728060 CA6876566	157	E>*		No	ClinGen ExAC gnomAD
rs756870051 CA6876568	157	E>D		No	ClinGen ExAC gnomAD
CA6876567 rs763728060	157	E>K		No	ClinGen ExAC gnomAD
CA6876569 rs767008901	159	T>P		No	ClinGen ExAC gnomAD
rs1448515353 CA387251631	160	R>G		No	ClinGen gnomAD
CA6876570 rs749936930	161	G>A		No	ClinGen ExAC gnomAD
CA387251658 rs1432533888	161	G>C		No	ClinGen TOPMed gnomAD
CA6876571 rs756092983	162	S>L		No	ClinGen ExAC gnomAD
CA387251686 rs1409100843	163	G>R		No	ClinGen gnomAD
CA6876572 rs780192582	164	L>M		No	ClinGen ExAC TOPMed gnomAD
CA6876573 rs749084019	165	F>S		No	ClinGen ExAC gnomAD
rs749084019 CA245380521	165	F>Y		No	ClinGen ExAC gnomAD
rs543498086 CA6876575	166	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA245380532 rs543498086	166	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6876576 rs748345546	167	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA387251795 rs748345546	167	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA387251787 rs1346571822	167	P>T		No	ClinGen gnomAD
rs747106141 CA6876579	169	F>L		No	ClinGen ExAC TOPMed gnomAD
rs374447637 CA245380556	170	R>Q		No	ClinGen Ensembl
CA245380553 rs892018995	170	R>W		No	ClinGen TOPMed
CA387251916 rs1239940343	171	P>L		No	ClinGen TOPMed gnomAD
CA6876581 rs777186624	173	R>Q		No	ClinGen ExAC gnomAD
CA387251947 rs1486772985	173	R>W		No	ClinGen gnomAD
CA387251972 rs1267882914	174	P>L		No	ClinGen gnomAD
rs1269796627 CA387252000	175	H>Q		No	ClinGen TOPMed
TCGA novel	176	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	176	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1201118563 CA387252039	177	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1418157904 CA387252065	178	Q>H		No	ClinGen gnomAD
rs1159127471 CA387252088	179	E>D		No	ClinGen gnomAD
rs765524304 CA6876583	181	P>L		No	ClinGen ExAC gnomAD
rs765524304 CA387252133	181	P>R		No	ClinGen ExAC gnomAD
rs1163549807 CA387252151	182	L>M		No	ClinGen gnomAD
CA387252184 rs1366554923	183	K>N		No	ClinGen gnomAD
rs775744371 CA6876584	184	D>A		No	ClinGen ExAC gnomAD
rs775744371 CA6876585	184	D>G		No	ClinGen ExAC gnomAD
CA387252215 rs767118059 CA6876588	185	G>R		No	ClinGen ExAC TOPMed gnomAD
rs767118059 CA6876587	185	G>W		No	ClinGen ExAC TOPMed gnomAD
rs778729120 CA245380572	186	G>D		No	ClinGen ExAC TOPMed gnomAD
CA6876591 rs201661032	186	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6876592 rs201661032	186	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs778729120 CA6876593	186	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6876594 rs747933777	187	P>A		No	ClinGen ExAC gnomAD
rs758622904 CA6876595	187	P>L		No	ClinGen ExAC gnomAD
CA6876597 rs747084549	188	G>E		No	ClinGen ExAC TOPMed gnomAD
rs770928042 CA6876598	189	R>S		No	ClinGen ExAC gnomAD
CA6876599 rs776701558	190	G>D		No	ClinGen ExAC gnomAD
CA387252282 rs1480081275	190	G>R		No	ClinGen gnomAD
CA387252287 rs1421592086	191	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1183502536 CA387252292	191	G>V		No	ClinGen TOPMed gnomAD
CA6876601 rs770320717	192	C>Y		No	ClinGen ExAC gnomAD
rs775897205 CA6876602	195	P>R		No	ClinGen ExAC gnomAD
CA6876603 rs763279090	196	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1462651230 CA387252336	197	K>Q		No	ClinGen TOPMed gnomAD
CA245380631 rs965418997	197	K>R		No	ClinGen TOPMed gnomAD
CA387252376 rs1377048623	200	H>L		No	ClinGen gnomAD
CA387252370 rs1404561207	200	H>Y		No	ClinGen TOPMed
rs765929480 CA6876607	201	V>A		No	ClinGen ExAC gnomAD
rs772807968 CA6876605	201	V>L		No	ClinGen ExAC gnomAD
rs772807968 CA6876606	201	V>M		No	ClinGen ExAC gnomAD
CA387252407 rs1246468758	202	E>A		No	ClinGen TOPMed gnomAD
CA387252419 rs1470365379	203	K>E		No	ClinGen TOPMed
rs370632753 CA245380659	204	S>I		No	ClinGen ESP TOPMed gnomAD
CA387252469 rs1272167178	204	S>R		No	ClinGen TOPMed gnomAD
CA6876608 rs753422384	205	A>E		No	ClinGen ExAC gnomAD
rs1306743795 CA387252472	205	A>P		No	ClinGen TOPMed gnomAD
CA387252473 rs1306743795	205	A>S		No	ClinGen TOPMed gnomAD
CA6876609 rs759513875	206	S>W		No	ClinGen ExAC gnomAD
rs1566096228 CA387252516	207	C>F		No	ClinGen Ensembl
CA387252524 rs1243232122	207	C>W		No	ClinGen gnomAD
CA6876610 rs765136161	208	A>S		No	ClinGen ExAC gnomAD
CA387252534 rs1187261451	208	A>V		No	ClinGen TOPMed gnomAD
CA387252644 rs549217660	214	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs549217660 CA6876614	214	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA245380687 rs1025577926	215	V>M		No	ClinGen TOPMed
rs781213139 CA6876616	216	D>E		No	ClinGen ExAC gnomAD
CA245380691 rs757489400	216	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6876615 rs757489400	216	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA6876617 rs371494253	217	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs770315572 CA6876618	218	Y>H		No	ClinGen ExAC gnomAD
CA6876620 rs749660719	219	W>C		No	ClinGen ExAC gnomAD
CA245380705 rs1043990690	221	R>G		No	ClinGen Ensembl
CA387252785 rs1297460532	221	R>L		No	ClinGen gnomAD
CA6876621 rs374628122	222	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6876622 rs374628122 COSM1511232	222	E>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6876623 rs760356190	222	E>V		No	ClinGen ExAC gnomAD
TCGA novel	223	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6876625 rs776258730	224	K>*		No	ClinGen ExAC gnomAD
CA387252843 rs1298729614	224	K>R		No	ClinGen TOPMed
CA387252854 rs1242113509	225	R>C		No	ClinGen gnomAD
CA387252855 rs1242113509	225	R>G		No	ClinGen gnomAD
TCGA novel	225	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6876629 rs752507736	230	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1423537575 CA387252932	231	L>R		No	ClinGen gnomAD
CA387252979 rs1480212234	234	W>*		No	ClinGen gnomAD
CA387253004 rs1177476271	235	A>V		No	ClinGen TOPMed gnomAD
rs141212020 CA6876631	239	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs751383510 CA6876632	241	S>F		No	ClinGen ExAC gnomAD
rs781447102 CA6876634	243	A>G		No	ClinGen ExAC gnomAD
rs757444391 CA6876633	243	A>S		No	ClinGen ExAC gnomAD
CA387253179 rs1242439343	244	F>Y		No	ClinGen TOPMed
rs1343443219 CA387253196	245	T>A		No	ClinGen gnomAD
rs1403918999 CA387253201	245	T>I		No	ClinGen gnomAD
rs1343443219 CA387253198	245	T>S		No	ClinGen gnomAD
CA6876639 rs769229169	247	L>F		No	ClinGen ExAC gnomAD
CA6876640 rs779381850	247	L>H		No	ClinGen ExAC gnomAD
rs1218598764 CA387253272	248	T>I		No	ClinGen gnomAD
CA6876641 rs748571988	249	F>L		No	ClinGen ExAC gnomAD
rs770694240 CA6876642	250	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1194755422 CA387253330	251	I>F		No	ClinGen TOPMed
rs1271398216 CA387253335	251	I>N		No	ClinGen gnomAD
rs7307702 CA245380789	252	D>E		No	ClinGen Ensembl
CA387253374 rs1158006294	253	P>L		No	ClinGen TOPMed gnomAD
rs1158006294 CA387253376	253	P>R		No	ClinGen TOPMed gnomAD
TCGA novel	254	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387253388 rs1401176962	254	A>S		No	ClinGen gnomAD
rs1401176962 CA387253385	254	A>T		No	ClinGen gnomAD
rs946289156 CA245380793	255	R>C		No	ClinGen TOPMed gnomAD
rs1043239293 CA245380797	257	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1043239293 CA387253454	257	R>G		No	ClinGen TOPMed gnomAD
rs1303539404 CA387253505	259	P>L		No	ClinGen gnomAD
rs769125492 CA6876645	260	E>G		No	ClinGen ExAC
rs1439601423 CA387253518	260	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1371617831 CA387253551	261	R>G		No	ClinGen TOPMed gnomAD
rs375107259 CA6876647	263	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6876648 rs764055019	264	I>F		No	ClinGen ExAC gnomAD
CA387253654 rs764055019	264	I>V		No	ClinGen ExAC gnomAD
CA245380811 rs1006936835	266	L>I		No	ClinGen TOPMed gnomAD
TCGA novel	268	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6876649 rs570817901	268	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387253778 rs570817901	268	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387253847 rs1294416417	270	Y>H		No	ClinGen gnomAD
CA6876650 rs200563832	271	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756890046 CA245380820	272	V>A		No	ClinGen TOPMed gnomAD
rs767725346 CA6876651	272	V>F		No	ClinGen ExAC TOPMed gnomAD
CA6876654 rs766321155	273	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1164013539 CA387253931	273	Y>C		No	ClinGen TOPMed
CA6876653 rs756375358	273	Y>H		No	ClinGen ExAC gnomAD
rs1423949644 CA387254052	277	Y>N		No	ClinGen gnomAD
COSM3416619 CA387254153 rs1163931148	280	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs753983549 CA6876655	281	L>F		No	ClinGen ExAC gnomAD
CA387254232 rs748516944	283	A>S		No	ClinGen ExAC TOPMed gnomAD
rs748516944 CA6876658	283	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1018190609 CA245380837	286	E>G		No	ClinGen Ensembl
CA6876661 rs745459962	286	E>K		No	ClinGen ExAC gnomAD
CA387254354 rs1247372448	287	S>T		No	ClinGen gnomAD
CA245380839 rs1025293933	289	A>S		No	ClinGen TOPMed gnomAD
rs1229302943 CA387254412	289	A>V		No	ClinGen TOPMed
CA245380843 rs951312529	291	D>Y		No	ClinGen TOPMed gnomAD
CA6876662 rs769513400	292	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6876663 rs774828195	295	G>S		No	ClinGen ExAC TOPMed gnomAD
CA387254630 rs1238409723	297	L>F		No	ClinGen TOPMed
rs147189512 CA6876667	298	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA245380859 rs962684822	298	Y>D		No	ClinGen gnomAD
rs147189512 CA6876666	298	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs182325743 CA245380864	299	V>I		No	ClinGen 1000Genomes
CA6876668 rs368034013	300	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA387254800 rs1365209957	303	G>R		No	ClinGen TOPMed
rs767243203 CA6876669	303	G>V		No	ClinGen ExAC gnomAD
CA6876671 rs760768748	305	E>D		No	ClinGen ExAC gnomAD
rs773083799 CA6876670	305	E>V		No	ClinGen ExAC gnomAD
rs1411310463 CA387254907	307	T>I		No	ClinGen gnomAD
CA387254915 rs1334058263	308	G>S		No	ClinGen gnomAD
rs139654576 CA6876673	310	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1453957716 CA387254957	310	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA387254955 rs1453957716	310	T>R		No	ClinGen TOPMed gnomAD
CA387254999 rs1593019545	312	V>G		No	ClinGen Ensembl
CA387255032 rs1271152854	313	F>L		No	ClinGen gnomAD
rs755152006 CA6876674	313	F>L		No	ClinGen ExAC gnomAD
CA387255046 rs1593019549	314	L>P		No	ClinGen Ensembl
CA6876676 rs753196210	317	Y>C		No	ClinGen ExAC gnomAD
CA6876677 rs758993466	318	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	319	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	319	F>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6876678 rs145721838	320	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1461870822 CA387255152	320	G>R		No	ClinGen TOPMed gnomAD
rs1461870822 CA387255149	320	G>S		No	ClinGen TOPMed gnomAD
rs1445209329 CA387255197	322	A>V		No	ClinGen gnomAD
CA387255288 rs1593019570	327	W>G		No	ClinGen Ensembl
TCGA novel	327	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs983668663 CA245380948	328	V>A		No	ClinGen TOPMed gnomAD
rs983668663 CA387255309	328	V>G		No	ClinGen TOPMed gnomAD
CA387255329 rs1593019573	329	V>G		No	ClinGen Ensembl
rs768091860 CA387255358	331	T>P		No	ClinGen ExAC gnomAD
CA6876683 rs768091860	331	T>S		No	ClinGen ExAC gnomAD
rs772031428 CA6876686	333	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6876687 rs772852953	335	F>I		No	ClinGen ExAC TOPMed gnomAD
CA387255425 rs1328602510	336	L>P		No	ClinGen gnomAD
TCGA novel	337	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	337	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387255465 rs1282950914	339	G>C		No	ClinGen gnomAD
CA387255461 rs1282950914	339	G>S		No	ClinGen gnomAD
CA6876689 rs572363149	339	G>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1225352116 CA387255514	341	K>T		No	ClinGen gnomAD
rs1348389986 CA387255540	342	W>*		No	ClinGen TOPMed gnomAD
CA387255534 rs1593019596	342	W>G		No	ClinGen Ensembl
CA387255571 rs1204514133	344	H>R		No	ClinGen gnomAD
CA6876691 COSM203705 rs759851250	345	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765355877 CA6876692	347	I>M		No	ClinGen ExAC gnomAD
rs867493734 CA245380961	348	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA6876693 rs752850907	349	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6876694 rs375157795	350	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1177546696 CA387255713	351	S>N		No	ClinGen gnomAD
rs764707579 CA6876695	353	Y>F		No	ClinGen ExAC gnomAD
rs751859952 CA6876696	355	H>Y		No	ClinGen ExAC gnomAD
CA245380974 rs926191562	357	A>S		No	ClinGen TOPMed
rs1362835404 CA387255810	358	A>S		No	ClinGen TOPMed gnomAD
rs757710187 CA6876697	360	A>V		No	ClinGen ExAC gnomAD
CA6876699 rs753475384	362	P>S		No	ClinGen ExAC gnomAD
CA387255882 rs1407014394	363	A>V		No	ClinGen gnomAD
CA387255902 rs1593019639	364	V>G		No	ClinGen Ensembl
rs146563747 CA6876701	365	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA6876702 rs747697960	367	I>M		No	ClinGen ExAC TOPMed gnomAD
CA245381003 rs577541466	371	V>F		No	ClinGen 1000Genomes
TCGA novel	372	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387256060 rs1355578421	372	M>L		No	ClinGen gnomAD
rs777832754 CA6876705	373	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6876706 COSM936968 rs770701893	373	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs777832754 CA6876704	373	R>S		No	ClinGen ExAC TOPMed gnomAD
CA245381010 rs1043434289	374	R>S		No	ClinGen gnomAD
CA387256093 rs1192609728	375	V>A		No	ClinGen gnomAD
CA6876707 rs776311423	376	A>T		No	ClinGen ExAC gnomAD
CA387256101 rs1418063496	376	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6876708 rs759788576	378	D>N		No	ClinGen ExAC gnomAD
rs770177002 CA6876709	380	L>V		No	ClinGen ExAC gnomAD
rs1459615151 CA387256145	382	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1201846826 CA387256154	383	V>I		No	ClinGen TOPMed
rs764506823 CA387256179	386	V>L		No	ClinGen ExAC TOPMed gnomAD
rs764506823 CA6876712 COSM2228241	386	V>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1279433731 CA387256187	387	G>S		No	ClinGen TOPMed
rs752040272 CA6876713	388	S>C		No	ClinGen ExAC
rs1309244971 CA387256205	389	M>L		No	ClinGen gnomAD
TCGA novel	389	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767875954 CA6876715	391	V>F		No	ClinGen ExAC gnomAD
rs767875954 CA6876716	391	V>L		No	ClinGen ExAC gnomAD
rs145130520 COSM468009 CA387256255	392	N>K	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs778587255 CA6876718	393	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1360069 rs1566096577 CA387256267	393	A>V	large_intestine Variant assessed as Somatic; impact. central_nervous_system [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs548968811 CA245381062	394	L>H		No	ClinGen ExAC gnomAD
CA6876720 rs548968811	394	L>P		No	ClinGen ExAC gnomAD
rs891296853 CA245381073	396	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA387256328 rs891296853	396	G>V		No	ClinGen TOPMed gnomAD
rs746915021 CA6876722	400	I>F		No	ClinGen ExAC gnomAD
rs746915021 CA387256404	400	I>V		No	ClinGen ExAC gnomAD
CA6876723 rs770801684	402	L>P		No	ClinGen ExAC gnomAD
CA387256492 rs1334685999	403	A>D		No	ClinGen TOPMed
rs1566096589 CA387256481	403	A>T		No	ClinGen Ensembl
TCGA novel	404	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781005736 CA6876724	404	C>S		No	ClinGen ExAC TOPMed gnomAD
rs1359171312 CA387256588	405	Y>*		No	ClinGen TOPMed
CA387256630 rs1425988135	407	V>F		No	ClinGen gnomAD
rs745703514 CA6876725	411	S>F		No	ClinGen ExAC TOPMed gnomAD
CA245381085 rs960149062	414	L>P		No	ClinGen TOPMed
rs1462700212 CA387256978	415	S>L		No	ClinGen gnomAD
CA6876729 rs768728310	419	A>S		No	ClinGen ExAC TOPMed gnomAD
CA387257116 rs774320509	420	L>M		No	ClinGen ExAC gnomAD
rs774320509 CA6876730	420	L>V		No	ClinGen ExAC gnomAD
rs1461265276 CA387257180	421	F>S		No	ClinGen TOPMed
TCGA novel	422	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762342183 CA6876731	423	I>L		No	ClinGen ExAC gnomAD
rs767950238 CA6876733	424	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6876732 rs767950238 COSM3811471	424	R>W	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1593019753 CA387257337	426	V>G		No	ClinGen Ensembl
rs766733924 CA6876735	427	M>L		No	ClinGen ExAC gnomAD
CA387257399 rs1259397974	428	K>E		No	ClinGen gnomAD
rs978756233 CA387257444	429	T>K		No	ClinGen TOPMed
rs978756233 CA245381102	429	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA387257436 rs978756233	429	T>R		No	ClinGen TOPMed
CA6876737 rs371374572	430	G>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	431	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs995449755 CA245381104	434	T>R		No	ClinGen Ensembl
TCGA novel	435	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6876740 rs757192629	435	D>E		No	ClinGen ExAC gnomAD
rs751067757 CA6876739	435	D>G		No	ClinGen ExAC gnomAD
COSM1706442 rs1185084864 CA387257579	435	D>N	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA387257648 rs1343972238	436	K>N		No	ClinGen TOPMed
rs1275728761 CA387257675	437	L>R		No	ClinGen gnomAD
rs745650469 CA6876742	439	K>E		No	ClinGen ExAC TOPMed gnomAD
rs563365493 CA6876743	439	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1450149497 CA387257766	441	M>L		No	ClinGen gnomAD
TCGA novel	441	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs375151076 CA245381124	443	R>P		No	ClinGen ESP TOPMed
CA387257873 rs1361067903	445	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1040302288 CA387257950	447	F>S		No	ClinGen TOPMed gnomAD
CA245381127 rs1040302288	447	F>Y		No	ClinGen TOPMed gnomAD
TCGA novel	449	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387258025 rs1256269200 COSM3980897	450	L>P	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA6876747 CA6876748 rs148345213	453	V>L		No	ClinGen ESP ExAC gnomAD
CA6876746 rs148345213	453	V>M		No	ClinGen ESP ExAC gnomAD
rs140624613 CA6876749	454	P>A		No	ClinGen ESP ExAC gnomAD
COSM268176 CA387258086 rs1566096665	454	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
rs140624613 CA245381142	454	P>S		No	ClinGen ESP ExAC gnomAD
rs140624613 CA6876750	454	P>T		No	ClinGen ESP ExAC gnomAD
CA245381145 rs950665496	457	C>Y		No	ClinGen gnomAD
rs761181228 CA6876751	459	I>M		No	ClinGen ExAC gnomAD
CA387258204 rs1339430110	460	A>T		No	ClinGen Ensembl
CA387258287 rs1486430210	462	Y>C		No	ClinGen gnomAD
CA387258343 rs1431269178	465	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1392335994 CA387258369	466	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA387258371 rs1162093131	466	R>H		No	ClinGen TOPMed
CA387258442 rs1484466169	470	D>A		No	ClinGen gnomAD
CA245381149 rs922795072	470	D>H		No	ClinGen TOPMed
rs766680817 CA6876752	471	Y>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	471	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6876753 rs777010709	472	W>R		No	ClinGen ExAC gnomAD
CA387258530 rs1480238654	475	L>V		No	ClinGen gnomAD
rs1200170747 CA387258553	476	A>S		No	ClinGen gnomAD
CA387258549 rs1200170747	476	A>T		No	ClinGen gnomAD
rs762632156 CA6876754	476	A>V		No	ClinGen ExAC gnomAD
CA387258577 rs1474980338	477	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs150473397 CA6876756	478	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA387258608 rs1421588718	478	Q>H		No	ClinGen gnomAD
CA245381162 rs983397719	483	M>I		No	ClinGen TOPMed
rs750330173 CA6876759	484	N>K		No	ClinGen ExAC TOPMed gnomAD
CA6876758 rs767143377	484	N>S		No	ClinGen ExAC gnomAD
CA387258743 rs1403977659	485	N>K		No	ClinGen gnomAD
rs756147962 CA6876761	487	T>A		No	ClinGen ExAC
rs756147962 CA387258787	487	T>S		No	ClinGen ExAC
CA6876762 rs779957961	488	K>*		No	ClinGen ExAC gnomAD
rs529022211 CA6876764	494	M>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1222549207 CA387258895	494	M>L		No	ClinGen gnomAD
CA6876765 rs779064021	495	A>T		No	ClinGen ExAC gnomAD
rs542798669 CA245381173	496	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs542798669 CA6876766	496	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772080616 CA6876767	498	I>V		No	ClinGen ExAC gnomAD
rs61758967 CA6876770	502	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1373752710 CA387258964	504	F>L		No	ClinGen TOPMed gnomAD
rs776955441 CA6876771	505	M>V		No	ClinGen ExAC gnomAD
CA6876772 rs759872331	506	V>G		No	ClinGen ExAC TOPMed gnomAD
rs1288432988 CA387258991	508	I>T		No	ClinGen TOPMed
rs1440255877 CA387258988	508	I>V		No	ClinGen gnomAD
TCGA novel	509	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA245381195 rs916313076	510	M>T		No	ClinGen Ensembl
TCGA novel	513	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369465643 CA245381197	513	V>M		No	ClinGen ESP TOPMed
CA6876775 rs761543162	518	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1323870668 CA387259055	518	S>R		No	ClinGen gnomAD
rs1351110667 CA387259082	522	I>L		No	ClinGen gnomAD
rs767090162 CA6876776	524	T>A		No	ClinGen ExAC
rs767090162 CA387259098	524	T>P		No	ClinGen ExAC
rs1439309815 CA387259108	525	S>F		No	ClinGen gnomAD
CA387259113 rs1593019904	526	K>R		No	ClinGen Ensembl
rs1457752333 CA387259122	527	T>I		No	ClinGen TOPMed
rs749988455 CA6876778	531	W>G		No	ClinGen ExAC TOPMed gnomAD
CA6876779 rs749988455	531	W>R		No	ClinGen ExAC TOPMed gnomAD
rs138386085 CA6876780	534	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA245381220 rs935542504	535	C>G		No	ClinGen TOPMed gnomAD
rs754798284 CA6876782	536	S>G		No	ClinGen ExAC gnomAD
CA6876783 rs142670845	536	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs147350994 CA6876784	537	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	537	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA387259255 rs138051070 COSM936971	537	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA6876785 COSM1511223 rs138051070	537	R>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6876786 rs138051070	537	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	537	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747137532 CA6876787	538	R>T		No	ClinGen ExAC gnomAD
TCGA novel	540	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	540	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143504283 CA245381234 CA387259326	541	K>N		No	ClinGen ESP
rs371843171 CA6876789	541	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6876791 rs746387851	543	S>N		No	ClinGen ExAC gnomAD
rs1343217897 CA387259365	544	R>Q		No	ClinGen TOPMed
rs769997941 CA6876792	544	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6876793 rs775948539	547	P>R		No	ClinGen ExAC gnomAD
rs942859460 CA245381240	547	P>T		No	ClinGen gnomAD
CA245381246 rs78312482	548	A>D		No	ClinGen Ensembl
rs1039873680 CA245381244	548	A>S		No	ClinGen TOPMed
rs1039873680 CA387259415	548	A>T		No	ClinGen TOPMed
TCGA novel	549	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61751357 CA6876796	549	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA387259454 rs1295689658	550	V>M		No	ClinGen TOPMed
rs771896001 CA6876797	551	I>F		No	ClinGen ExAC TOPMed gnomAD
rs370337420 CA245381254	552	T>I		No	ClinGen Ensembl
rs370337420 CA387259485	552	T>N		No	ClinGen Ensembl
rs766415890 CA6876800	554	G>D		No	ClinGen ExAC gnomAD
CA6876799 rs760319687	554	G>R		No	ClinGen ExAC gnomAD
rs753653861 CA6876801	555	G>R		No	ClinGen ExAC gnomAD
rs187281130 CA6876804	558	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387259621 rs1320165990	560	A>D		No	ClinGen gnomAD
rs1294762337	560	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752575918 CA6876805	560	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA387259623 rs1320165990	560	A>V		No	ClinGen gnomAD
CA387259669 rs1435668373	564	Q>*		No	ClinGen Ensembl
CA6876808 rs751631315	566	T>I		No	ClinGen ExAC gnomAD
TCGA novel	566	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6876809 rs757257256	567	H>D		No	ClinGen ExAC gnomAD
CA387259720 rs757257256	567	H>Y		No	ClinGen ExAC gnomAD
rs781342731 CA6876810	568	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1593019996 CA387259770	570	K>R		No	ClinGen Ensembl
CA6876811 rs746314813	571	Y>F		No	ClinGen ExAC gnomAD
rs1566096866 CA387259783	571	Y>H		No	ClinGen Ensembl
CA387259799 rs1173644283	572	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs370498951 CA6876814	574	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs771837063 CA6876815	574	P>R		No	ClinGen ExAC TOPMed gnomAD
rs746666868 CA6876817	576	Q>E		No	ClinGen ExAC
CA6876819 rs776234685	577	S>L		No	ClinGen ExAC TOPMed gnomAD
CA6876818 rs770296612	577	S>P		No	ClinGen ExAC gnomAD
rs549928081 CA6876820	578	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA387259908 rs1262611304	579	T>I		No	ClinGen gnomAD
rs1344164778 CA387259922	580	C>F		No	ClinGen gnomAD
CA387259952 rs1172991009	581	V>A		No	ClinGen gnomAD
rs1201001511 CA387259948	581	V>L		No	ClinGen gnomAD
rs1201001511 CA387259946	581	V>M		No	ClinGen gnomAD
rs775130745 CA6876822	582	V>G		No	ClinGen ExAC gnomAD

No associated diseases with Q9ULW2

3 regional properties for Q9ULW2

Type	Name	Position	InterPro Accession
domain	Frizzled/Smoothened, transmembrane domain	217 - 541	IPR000539
domain	GPCR, family 2-like, transmembrane domain	227 - 530	IPR017981
domain	Frizzled domain	29 - 152	IPR020067

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 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.
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.
integral component of plasma membrane	The component of the plasma 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.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

3 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.
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.

8 GO annotations of biological process

Name	Definition
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.
cellular response to retinoic acid	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a retinoic acid stimulus.
negative regulation of GTPase activity	Any process that stops or reduces the rate of GTP hydrolysis by a GTPase.
neuron differentiation	The process in which a relatively unspecialized cell acquires specialized features of a neuron.
non-canonical Wnt signaling pathway via JNK cascade	The series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, where the signal is passed on via the JNK cascade.
positive regulation of GTPase activity	Any process that activates or increases the activity of a GTPase.
positive regulation of JUN kinase activity	Any process that activates or increases the frequency, rate or extent of JUN kinase activity.
regulation of actin cytoskeleton organization	Any process that modulates the frequency, rate or extent of the formation, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.

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
O00144	FZD9	Frizzled-9	Homo sapiens (Human)	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
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
MQRPGPRLWL	VLQVMGSCAA	ISSMDMERPG	DGKCQPIEIP	MCKDIGYNMT	RMPNLMGHEN
70	80	90	100	110	120
QREAAIQLHE	FAPLVEYGCH	GHLRFFLCSL	YAPMCTEQVS	TPIPACRVMC	EQARLKCSPI
130	140	150	160	170	180
MEQFNFKWPD	SLDCRKLPNK	NDPNYLCMEA	PNNGSDEPTR	GSGLFPPLFR	PQRPHSAQEH
190	200	210	220	230	240
PLKDGGPGRG	GCDNPGKFHH	VEKSASCAPL	CTPGVDVYWS	REDKRFAVVW	LAIWAVLCFF
250	260	270	280	290	300
SSAFTVLTFL	IDPARFRYPE	RPIIFLSMCY	CVYSVGYLIR	LFAGAESIAC	DRDSGQLYVI
310	320	330	340	350	360
QEGLESTGCT	LVFLVLYYFG	MASSLWWVVL	TLTWFLAAGK	KWGHEAIEAN	SSYFHLAAWA
370	380	390	400	410	420
IPAVKTILIL	VMRRVAGDEL	TGVCYVGSMD	VNALTGFVLI	PLACYLVIGT	SFILSGFVAL
430	440	450	460	470	480
FHIRRVMKTG	GENTDKLEKL	MVRIGLFSVL	YTVPATCVIA	CYFYERLNMD	YWKILAAQHK
490	500	510	520	530	540
CKMNNQTKTL	DCLMAASIPA	VEIFMVKIFM	LLVVGITSGM	WIWTSKTLQS	WQQVCSRRLK
550	560	570	580
KKSRRKPASV	ITSGGIYKKA	QHPQKTHHGK	YEIPAQSPTC	V