AiPD: Autoinhibited Protein Database

Q12770

Gene name	SCAP
Protein name	Sterol regulatory element-binding protein cleavage-activating protein
Names	SCAP, SREBP cleavage-activating protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:22937
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

798-881 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

798-881 (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 Q12770

Entry ID	Method	Resolution	Chain	Position	Source
6M49	EM	370 A	B	1-735	PDB
7ETW	EM	410 A	B	1-735	PDB
AF-Q12770-F1	Predicted				AlphaFoldDB

964 variants for Q12770

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1255862387 CA352575277	3	L>Q		No	ClinGen gnomAD
CA352575269 rs1234432067	4	T>A		No	ClinGen gnomAD
CA2367916 rs781013998 CA352575235	6	R>S		No	ClinGen ExAC TOPMed gnomAD
rs199728489 CA73869523	8	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201271939 CA2367913	8	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201271939 CA352575218	8	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199728489 CA2367914	8	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1412945953 CA352575214	9	E>K		No	ClinGen gnomAD
rs757837748 CA2367912	11	I>V		No	ClinGen ExAC TOPMed gnomAD
CA2367910 rs573010958	13	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2367911 rs749967242	13	R>W		No	ClinGen ExAC gnomAD
COSM1045617 CA2367909 rs199703791 COSM1045618	14	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA352575102 rs1477289605	16	Y>C		No	ClinGen gnomAD
rs753499366 CA2367908	17	N>S		No	ClinGen ExAC gnomAD
rs1484366573 CA352575056	19	G>W		No	ClinGen gnomAD
CA73869446 rs973869472	25	Y>N		No	ClinGen TOPMed gnomAD
CA352574901 rs1286549991	29	I>V		No	ClinGen TOPMed
CA352574885 rs1280257186	30	I>V		No	ClinGen gnomAD
rs1231562945 CA352574858	31	L>F		No	ClinGen TOPMed gnomAD
TCGA novel	34	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333482521 CA352574773	34	G>V		No	ClinGen gnomAD
CA352574705 rs1404168703	37	I>V		No	ClinGen gnomAD
CA352574664 rs1423904033	38	L>F		No	ClinGen gnomAD
rs771178909 CA2367901 COSM78453	38	L>V	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2367900 rs749524696	39	A>D		No	ClinGen ExAC gnomAD
CA352574625 rs1473954137	40	C>Y		No	ClinGen gnomAD
CA2367885 rs142327684	45	L>V		No	ClinGen 1000Genomes ExAC gnomAD
rs766472360 CA2367883	49	L>*		No	ClinGen ExAC gnomAD
rs762958521 CA2367882	49	L>F		No	ClinGen ExAC gnomAD
CA73864167 rs536125750	58	T>I		No	ClinGen 1000Genomes
CA73864150 rs948776691	59	T>N		No	ClinGen gnomAD
CA2367878 rs775244381	60	P>S		No	ClinGen ExAC TOPMed gnomAD
rs771985529 CA2367877	62	K>R		No	ClinGen ExAC TOPMed gnomAD
CA2367876 rs745791819	65	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1283829047 CA352571804	66	P>H		No	ClinGen TOPMed gnomAD
rs894942477 CA73864115	67	P>R		No	ClinGen TOPMed
rs748776191 CA2367873	67	P>S		No	ClinGen ExAC gnomAD
CA2367872 rs777432017	68	P>S		No	ClinGen ExAC
CA352571749 rs1559552396	69	V>L		No	ClinGen Ensembl
rs1311183581 CA352571710	70	D>E		No	ClinGen TOPMed gnomAD
rs992107248 CA73864105	71	S>F		No	ClinGen gnomAD
CA2367870 rs147885193	73	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2367869 rs756202449	73	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2367871 rs147885193	73	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352571580 rs1576278961	74	K>R		No	ClinGen Ensembl
CA352571563 rs1432201668	75	Q>E		No	ClinGen TOPMed gnomAD
CA73864084 rs951796392	79	T>A		No	ClinGen TOPMed gnomAD
rs1420833651 CA352571406	81	Q>E		No	ClinGen gnomAD
rs1447907852 CA352569844	88	A>G		No	ClinGen gnomAD
rs764329443 CA2367841	89	P>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	89	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1464342390 CA352569836	90	V>L		No	ClinGen gnomAD
rs1423216212 CA352569771	94	Q>R		No	ClinGen gnomAD
rs146306620 CA2367839	96	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770795938 CA2367838	98	V>L		No	ClinGen ExAC gnomAD
CA2367837 rs561991763	101	S>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2367836 rs773262453	103	F>S		No	ClinGen ExAC gnomAD
CA2367835 rs769375384	104	P>S		No	ClinGen ExAC TOPMed gnomAD
CA352569525 rs747867283	106	H>L		No	ClinGen TOPMed
rs747867283 CA73858157	106	H>R		No	ClinGen TOPMed
CA352569408 rs1216288304	112	V>L		No	ClinGen TOPMed
CA352569384 rs1180341675	113	D>N		No	ClinGen TOPMed gnomAD
COSM1309199 rs747668597 CA2367834	114	V>I	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs768447765 CA2367832 COSM1692719	116	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs540829159 CA2367831	116	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA352569250 rs1309952849	118	P>L		No	ClinGen gnomAD
rs1308791748 CA352569268	118	P>S		No	ClinGen gnomAD
rs932078032 CA73858141	119	L>F		No	ClinGen Ensembl
CA2367830 rs780251043	120	S>A		No	ClinGen ExAC
CA2367829 rs758865980	120	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1380551944 CA352569199	121	R>Q		No	ClinGen gnomAD
rs1444925993 CA352569204	121	R>W		No	ClinGen TOPMed
rs183472881 CA2367826	122	A>S		No	ClinGen 1000Genomes ExAC gnomAD
CA352569196 rs183472881	122	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs922049971 CA73858109	122	A>V		No	ClinGen gnomAD
CA352569060 rs780557432	126	V>A		No	ClinGen TOPMed
rs780557432 CA73858106	126	V>G		No	ClinGen TOPMed
rs368868479 CA352568984	130	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs190898633 CA2367822	130	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs368868479 CA2367823	130	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs912453826 CA73858079	133	V>A		No	ClinGen Ensembl
rs1576270111 TCGA novel CA352568923	133	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA352568846 rs1437648521	136	D>H		No	ClinGen gnomAD
rs1176045097 CA352567464	138	S>P		No	ClinGen TOPMed
CA2367802 rs139371188	139	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA352567455 rs1287285160	139	G>R		No	ClinGen gnomAD
CA352567444 rs1310759164	140	I>L		No	ClinGen gnomAD
CA2367801 rs758090248	141	R>G		No	ClinGen ExAC gnomAD
CA2367800 rs750257136	145	E>*		No	ClinGen ExAC gnomAD
rs771417160 CA73857294	145	E>G		No	ClinGen ExAC gnomAD
CA2367799 rs771417160	145	E>V		No	ClinGen ExAC gnomAD
CA352567373 rs1296537071	146	L>S		No	ClinGen TOPMed
rs113909034 CA73857267	150	V>A		No	ClinGen Ensembl
rs1410699674 CA352567341	151	T>A		No	ClinGen TOPMed
CA352567331 rs1359832881	152	D>E		No	ClinGen gnomAD
rs776778325 CA352567335	152	D>H		No	ClinGen ExAC TOPMed gnomAD
rs776778325 CA2367797	152	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2367796 rs576834373	153	L>R		No	ClinGen 1000Genomes ExAC gnomAD
CA2367794 rs774963308	158	R>T		No	ClinGen ExAC gnomAD
CA2367795 rs760235273	158	R>W		No	ClinGen ExAC gnomAD
rs770206358 CA2367792	167	H>R		No	ClinGen ExAC gnomAD
CA352567236 rs1201758177	168	G>R		No	ClinGen TOPMed
CA352567227 rs1190882054	169	C>S		No	ClinGen gnomAD
TCGA novel	170	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1254397351 CA352567203	173	S>C		No	ClinGen TOPMed
rs1207387176 CA352567195	175	G>R		No	ClinGen TOPMed gnomAD
CA352567188 rs1426413581	176	N>D		No	ClinGen TOPMed
rs778262423 CA2367788	177	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	177	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs2046376 CA2367787	178	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs5848833 CA73857179	178	W>*		No	ClinGen Ensembl
CA352567133 rs1325947215	182	W>*		No	ClinGen gnomAD
rs879008440 CA73857143	184	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2367786 rs370907919	184	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs200491328 CA2367785	186	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	187	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2367784 rs755208981	189	P>T		No	ClinGen ExAC gnomAD
CA73857116 rs921591019	192	I>T		No	ClinGen TOPMed
TCGA novel	193	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1576268560 CA352566902	194	T>P		No	ClinGen Ensembl
rs1404034715 CA352566861	195	I>T		No	ClinGen TOPMed
rs376083345 CA2367782	195	I>V		No	ClinGen ESP ExAC gnomAD
CA2367779 rs764156241	196	H>L		No	ClinGen ExAC TOPMed gnomAD
rs764156241 CA2367780	196	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2367781 COSM1159622 rs757177895	196	H>Y	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs760054433 CA2367778	198	H>L		No	ClinGen ExAC gnomAD
rs766972801 CA2367777	198	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs759217970 CA2367775	199	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1422571620 CA352566718	200	P>L		No	ClinGen gnomAD
rs1576268465 CA352566679	202	T>P		No	ClinGen Ensembl
CA352566616 rs1256003084	206	S>A		No	ClinGen gnomAD
CA73857091 rs930287265	207	A>G		No	ClinGen TOPMed gnomAD
CA2367773 rs146196919	208	T>A		No	ClinGen ESP ExAC gnomAD
CA352566566 rs1424397069	209	L>P		No	ClinGen TOPMed gnomAD
rs766054422 CA2367751	214	F>L		No	ClinGen ExAC gnomAD
rs763257244 CA2367750	216	V>I		No	ClinGen ExAC TOPMed gnomAD
rs773548561 CA352566296	217	P>A		No	ClinGen ExAC gnomAD
CA2367749 rs773548561	217	P>T		No	ClinGen ExAC gnomAD
CA2367748 rs770098764	219	K>R		No	ClinGen ExAC TOPMed gnomAD
CA352566224 rs1285662327	220	Y>S		No	ClinGen TOPMed
CA2367747 rs762378697	221	S>I		No	ClinGen ExAC gnomAD
rs534828508 CA352566179	222	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2367745 rs534828508	222	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	223	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1576267979 CA352566138	223	V>G		No	ClinGen Ensembl
CA352566116 rs1559547801	224	S>I		No	ClinGen Ensembl
CA352566049 rs1267920652	227	T>P		No	ClinGen TOPMed
CA2367744 rs61738798	229	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2367743 rs780373009	230	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1196986761 CA352565937	230	R>S		No	ClinGen gnomAD
rs1451158376 CA352565910	231	M>T		No	ClinGen gnomAD
CA352565890 rs1225188368	232	V>I		No	ClinGen Ensembl
rs746131319 CA2367741	235	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2367742 rs746131319	235	T>S		No	ClinGen ExAC TOPMed gnomAD
CA73856784 rs1056322174	236	I>V		No	ClinGen TOPMed
rs1223220257 CA352565743	238	L>V		No	ClinGen gnomAD
rs777616283 CA2367740	239	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2367739 rs372981910	240	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1351075035 CA352565677 COSM222803	242	H>Y	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs146031236 CA73856766	244	H>Y		No	ClinGen ESP TOPMed
rs754447626 CA2367736	245	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751093608 CA2367735	245	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1407139200 CA352565352	247	F>Y		No	ClinGen gnomAD
rs754889807 CA2367717	252	R>C		No	ClinGen ExAC gnomAD
rs1170241096 CA352565239	252	R>H		No	ClinGen TOPMed gnomAD
rs746992795 CA2367716	254	R>C		No	ClinGen ExAC gnomAD
CA2367714 rs369811317	254	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2367715 rs369811317	254	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2367712 rs764804395	256	M>I		No	ClinGen ExAC gnomAD
CA2367711 rs757591694	259	H>Y		No	ClinGen ExAC gnomAD
CA73855867 rs150345243	260	P>A		No	ClinGen ESP
CA352565072 rs1423480827	261	S>I		No	ClinGen TOPMed gnomAD
COSM3696124 CA352565065 rs1423480827	261	S>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2367709 rs139135816	262	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139135816 CA2367710	262	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1478107415 CA352565009	263	N>K		No	ClinGen TOPMed
rs1376579642 CA352565018	263	N>S		No	ClinGen TOPMed
rs1205150030 CA352564958	265	S>R		No	ClinGen gnomAD
CA2367706 rs149082564	267	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2367707 rs149082564	267	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149082564 CA2367705	267	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761258283 CA2367708	267	R>W		No	ClinGen ExAC TOPMed gnomAD
rs376770796 CA2367703	268	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs376770796 CA2367704	268	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs746936099 CA2367699	272	V>L		No	ClinGen ExAC gnomAD
rs745402503 CA352564824	274	V>L		No	ClinGen ExAC gnomAD
COSM1045612 CA2367696 rs745402503	274	V>M	endometrium Variant assessed as Somatic; 4.627e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA352564768 rs1171244646	277	K>E		No	ClinGen TOPMed gnomAD
CA352564721 rs1411685689	279	E>A		No	ClinGen gnomAD
TCGA novel	279	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421610806 CA352564690	281	G>S		No	ClinGen TOPMed gnomAD
rs923259248 CA73855789	282	V>I		No	ClinGen TOPMed
CA2367693 rs753592679	283	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2367694 rs753592679	283	A>T		No	ClinGen ExAC TOPMed gnomAD
CA352564636 rs1185123097	284	E>V		No	ClinGen gnomAD
rs1456173343 CA352564578	287	P>H		No	ClinGen gnomAD
rs764540288 CA2367692	288	L>V		No	ClinGen ExAC TOPMed gnomAD
CA352564469 rs1288392558	295	L>S		No	ClinGen gnomAD
CA2367686 rs766524322	300	Y>C		No	ClinGen ExAC gnomAD
rs768382134	303	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs773485375 CA2367684	303	T>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	304	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs149003080 CA2367682	304	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs200661820 CA73855216 COSM1045610	307	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed
rs1261676038 CA352563229	310	K>R		No	ClinGen gnomAD
CA352563217 rs1218305265	311	S>A		No	ClinGen TOPMed gnomAD
CA352563214 rs1310677796	311	S>F		No	ClinGen gnomAD
rs777514900 CA2367657	312	K>R		No	ClinGen ExAC gnomAD
rs1307206964 CA352563169	313	W>*		No	ClinGen TOPMed
CA352563165 rs1425230499	314	G>R		No	ClinGen gnomAD
rs1199346542 CA352563046	320	V>L		No	ClinGen TOPMed gnomAD
CA2367653 rs755431886	323	V>A		No	ClinGen ExAC gnomAD
rs1193124106 CA352562986	323	V>M		No	ClinGen TOPMed
CA2367650 rs758370220	326	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2367648 rs765352248	329	M>I		No	ClinGen ExAC gnomAD
TCGA novel	329	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352562812 rs1288001793	331	V>L		No	ClinGen TOPMed gnomAD
CA73855127 rs914298446	333	L>F		No	ClinGen TOPMed gnomAD
CA352562633 rs1204519360	340	T>M		No	ClinGen gnomAD
CA2367645 rs767158825	341	P>A		No	ClinGen ExAC TOPMed gnomAD
CA352562530 rs1226690446	345	G>S		No	ClinGen gnomAD
CA73855070 rs370402279	346	G>S		No	ClinGen ESP gnomAD
rs778949085 CA2367630	352	L>F		No	ClinGen ExAC
rs757342318 CA2367628	357	G>E		No	ClinGen ExAC gnomAD
CA2367626 rs764403993	363	V>L		No	ClinGen ExAC gnomAD
rs751343503 CA2367624	372	P>L		No	ClinGen ExAC gnomAD
CA352561665 rs1370489096	373	V>A		No	ClinGen TOPMed
rs773344685 CA2367621	378	K>*		No	ClinGen ExAC gnomAD
CA352561555 rs1181337510	379	L>R		No	ClinGen gnomAD
CA352561549 rs1438527728	380	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1208071175 CA352561517	382	A>T	Variant assessed as Somatic; 4.626e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352561495 rs1290887599	383	Q>R		No	ClinGen gnomAD
COSM1045608 CA2367593 rs771404299	388	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA352560472 rs1240221818	393	M>L		No	ClinGen TOPMed gnomAD
CA352560469 rs1240221818	393	M>V		No	ClinGen TOPMed gnomAD
rs1559544274 CA352560403	396	M>V		No	ClinGen Ensembl
CA352560362 rs1285975484	398	T>M		No	ClinGen gnomAD
TCGA novel	398	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA73851284 rs1023787004	399	E>G		No	ClinGen Ensembl
rs748345753 CA2367588	403	I>V		No	ClinGen ExAC gnomAD
TCGA novel	404	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	405	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1670142 CA352560284 rs1576259725	406	G>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
CA2367584 rs778903679	407	Y>*		No	ClinGen ExAC gnomAD
rs1360518835 CA352560276	407	Y>N		No	ClinGen gnomAD
CA352560239 rs1576259680	409	T>P		No	ClinGen Ensembl
rs1205603932 CA352560198	412	P>H		No	ClinGen TOPMed
rs868742199 CA73851242	413	A>T		No	ClinGen Ensembl
rs1457442948 CA352560169	414	I>T		No	ClinGen TOPMed
CA73850365 rs144572130	416	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA352559251 rs1410471707	419	L>H		No	ClinGen gnomAD
CA352559248 rs1410471707	419	L>P		No	ClinGen gnomAD
TCGA novel	421	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352559114 rs1232824085	426	V>A		No	ClinGen TOPMed
CA73850354 rs201155936	427	S>A		No	ClinGen 1000Genomes
TCGA novel	429	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	432	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352558960 rs1470759589	432	Q>R		No	ClinGen TOPMed
rs767052967 CA2367558	439	V>I		No	ClinGen ExAC gnomAD
CA73850343 rs921837798	441	S>F		No	ClinGen TOPMed
rs1385523811 CA352558740	444	I>V		No	ClinGen gnomAD
rs558458280 CA2367557	445	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA73850341 rs558458280	445	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA73850301 rs1052387428	446	R>Q		No	ClinGen Ensembl
CA2367555 rs543331808	446	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758741382 CA2367536	455	R>*		No	ClinGen ExAC gnomAD
CA352558293 rs1231016445	455	R>Q		No	ClinGen TOPMed
rs1576256537 CA352558152	460	A>V		No	ClinGen Ensembl
rs1295083626 CA352558115	462	L>P		No	ClinGen gnomAD
rs1451296193 CA352558093	463	P>S		No	ClinGen TOPMed gnomAD
CA352558046 rs1159335370	464	S>L		No	ClinGen TOPMed gnomAD
rs1197986718 CA352558029	465	A>G		No	ClinGen gnomAD
CA352558035 rs1426571169	465	A>P		No	ClinGen gnomAD
CA352558039 rs1426571169	465	A>T		No	ClinGen gnomAD
rs764200831 CA2367530	467	P>A		No	ClinGen ExAC gnomAD
CA352558012 rs764200831	467	P>S		No	ClinGen ExAC gnomAD
rs760865363 CA2367529	468	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1485728682 CA352557976	469	G>A		No	ClinGen gnomAD
rs994465807 CA73850140	471	P>R		No	ClinGen Ensembl
CA2367527 rs138330271	471	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs138330271 CA73850144	471	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367526 rs746142162	472	T>A		No	ClinGen ExAC TOPMed gnomAD
rs150397046 CA2367525	472	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352557908 rs746142162	472	T>S		No	ClinGen ExAC TOPMed gnomAD
rs748019207 CA2367523	473	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs368653657 CA2367522	473	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA73850098 rs200490255	474	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
CA73850105 rs899322737	474	Y>N		No	ClinGen TOPMed gnomAD
rs370283515 CA2367520	475	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs779664032 CA2367519	475	E>V		No	ClinGen ExAC gnomAD
TCGA novel	476	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2367518 rs202080098	476	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA73850083 rs370196779	476	R>W		No	ClinGen ESP gnomAD
CA2367517 rs750160844	477	Q>H		No	ClinGen ExAC
rs1379921329 CA352557801	478	L>V		No	ClinGen gnomAD
CA2367515 rs757711612	479	A>V		No	ClinGen ExAC TOPMed gnomAD
CA73850060 rs934850078	480	V>A		No	ClinGen TOPMed gnomAD
rs1190832739 CA352557764	480	V>M		No	ClinGen gnomAD
rs764717980 CA2367512	482	P>L		No	ClinGen ExAC TOPMed gnomAD
CA352557667 rs1348682490	485	P>S		No	ClinGen TOPMed
rs752683819 CA2367510	486	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1576256146 CA352557615	487	T>P		No	ClinGen Ensembl
CA352557554 rs769513073	489	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2367506 rs769513073	489	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2367507 rs769513073	489	T>R		No	ClinGen ExAC TOPMed gnomAD
rs1335642476 CA352557515	492	P>L		No	ClinGen gnomAD
rs776502967 CA2367504	492	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2367502 rs746992646	499	R>Q		No	ClinGen ExAC gnomAD
TCGA novel	499	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2367501 rs779430670	502	K>E		No	ClinGen ExAC gnomAD
rs1170899290 CA352557341	505	R>C		No	ClinGen TOPMed gnomAD
rs200972311 CA2367500	505	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs745456038 CA2367499	512	R>C		No	ClinGen ExAC gnomAD
CA73849996 rs981916393	512	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA352557247 rs1576255956	513	T>P		No	ClinGen Ensembl
CA352557232 rs1248501084	514	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1467972336 CA352557213	515	L>V		No	ClinGen TOPMed
rs1480282295 CA352557134	518	R>C		No	ClinGen TOPMed gnomAD
CA352557129 rs1275218213	518	R>H		No	ClinGen gnomAD
rs1271014735 CA352557057	521	M>L		No	ClinGen gnomAD
CA2367474 rs778268038	525	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA73849232 rs1000574968	526	V>A		No	ClinGen TOPMed gnomAD
rs756560969 CA2367473	528	I>T		No	ClinGen ExAC gnomAD
CA2367472 rs748535042	529	G>S		No	ClinGen ExAC gnomAD
CA73849218 rs1034558644	529	G>V		No	ClinGen Ensembl
rs1290177665 CA352555447	532	V>L		No	ClinGen TOPMed
CA2367470 rs754966611	540	R>H		No	ClinGen ExAC gnomAD
rs967687989 CA73849193	543	L>F		No	ClinGen TOPMed
rs766486734 CA2367468	544	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2367467 rs758618115	544	A>V		No	ClinGen ExAC gnomAD
CA73849160 rs1047066821	547	V>A		No	ClinGen Ensembl
CA352555106 rs1436097984	547	V>M		No	ClinGen gnomAD
rs199713450 CA2367463	548	T>M		No	ClinGen ExAC TOPMed gnomAD
rs759428603 CA2367461	549	E>K		No	ClinGen ExAC
TCGA novel	550	Q>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA73849109 rs373167143	550	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA352554994 rs1401364838	550	Q>R		No	ClinGen TOPMed gnomAD
rs770622802 CA2367459	552	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	553	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352554889 rs1187620974	555	E>K		No	ClinGen gnomAD
CA352554827 rs1451076805	557	A>T		No	ClinGen TOPMed
rs771036489 CA73849091	558	L>P		No	ClinGen Ensembl
rs1249462113 CA352554780	560	P>A		No	ClinGen gnomAD
CA352554731 rs1201274755	562	P>R		No	ClinGen gnomAD
rs1221434641 CA352554713	563	V>A		No	ClinGen gnomAD
CA2367454 rs781460321	563	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2367453 rs755480676	565	S>G		No	ClinGen ExAC gnomAD
rs1038029106 CA73849036	567	M>V		No	ClinGen Ensembl
rs1056307132 CA73849030	569	P>L		No	ClinGen TOPMed
CA2367452 rs375737763	570	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA352554573 rs1314696794	571	S>C		No	ClinGen Ensembl
rs1229536681	571	S>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs758490301 CA2367450	573	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780097900 CA2367451	573	P>S		No	ClinGen ExAC gnomAD
CA352554507 rs765477644	574	D>A		No	ClinGen ExAC TOPMed gnomAD
rs1334828780 CA352554504	574	D>E		No	ClinGen gnomAD
CA2367448 rs765477644	574	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1394173831 CA352554421	579	I>N		No	ClinGen gnomAD
rs757466264 CA2367447	579	I>V		No	ClinGen ExAC gnomAD
CA352554409 rs1167750419	580	F>L		No	ClinGen gnomAD
rs1449815337 CA352554361	583	D>Y		No	ClinGen gnomAD
rs1576254085 CA352554332	584	A>S		No	ClinGen Ensembl
rs1576254076 CA352554324	584	A>V		No	ClinGen Ensembl
rs759501653 CA2367444	587	L>V		No	ClinGen ExAC gnomAD
rs774442652 CA2367443	588	P>S		No	ClinGen ExAC gnomAD
CA2367441 rs773156877	591	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1274503969 CA352554193	592	T>S		No	ClinGen gnomAD
CA2367439 rs530103700	593	S>L		No	ClinGen ExAC TOPMed gnomAD
CA352554125 rs1559541582	595	G>D		No	ClinGen Ensembl
rs777050970 CA2367437	596	E>K		No	ClinGen ExAC TOPMed gnomAD
rs149876928 CA2367436	597	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367434 rs368946042	598	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2367433 rs200597020	600	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367432 rs150799323	600	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200597020 CA352554039	600	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367431 rs778896582	602	G>S		No	ClinGen ExAC TOPMed gnomAD
rs965246398 CA73848930	604	A>T		No	ClinGen TOPMed
CA352553947 rs1361610443	605	E>A		No	ClinGen TOPMed
rs1034912575 CA73848928	607	V>A		No	ClinGen gnomAD
rs1469153382 CA352553888	608	H>R		No	ClinGen TOPMed
rs1404415485 CA352553817	611	P>L		No	ClinGen TOPMed gnomAD
CA352553821 rs1404415485	611	P>R		No	ClinGen TOPMed gnomAD
CA2367430 rs757493103	611	P>T		No	ClinGen ExAC gnomAD
rs1360899757 CA352553655	619	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1183131176 CA352553633	620	E>K		No	ClinGen gnomAD
TCGA novel	621	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352553547 rs1468127314	623	E>*		No	ClinGen gnomAD
rs147189412 CA2367429	623	E>D		No	ClinGen ESP ExAC gnomAD
COSM1692715 rs1459170146 CA352553485	625	W>*	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
rs373470095 CA2367426	631	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs910327956 CA73848909	631	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs369326131 CA2367425	635	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA352553088 rs1227805932	636	L>R		No	ClinGen TOPMed
CA2367423 rs749923410	640	Y>*		No	ClinGen ExAC
CA352552984 rs1289230897	641	N>D		No	ClinGen TOPMed
rs764720864 CA352552979	641	N>I		No	ClinGen ExAC gnomAD
CA2367422 rs764720864	641	N>S		No	ClinGen ExAC gnomAD
rs1559541394 CA352552965	642	I>V		No	ClinGen Ensembl
CA352552917 rs1287723781	643	T>I		No	ClinGen gnomAD
TCGA novel	646	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs913675326 CA73848367	651	L>V		No	ClinGen TOPMed
CA352552353 rs1413658278	652	L>R		No	ClinGen TOPMed
CA352552323 rs1176731762	653	P>S		No	ClinGen TOPMed
rs199794833 CA352552282	654	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199794833 CA2367394	654	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1417224658 CA352552260	655	I>F		No	ClinGen gnomAD
CA2367392 rs749349363	658	T>M		No	ClinGen ExAC TOPMed gnomAD
CA73848300 rs551465247	659	L>R		No	ClinGen Ensembl
rs145770545 CA2367390	660	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367389 rs748447667	660	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352552061 rs748447667	660	R>L		No	ClinGen ExAC TOPMed gnomAD
CA2367387 rs758283498	662	N>I		No	ClinGen ExAC gnomAD
CA2367385 rs778749312	663	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2367386 rs778749312	663	P>R		No	ClinGen ExAC TOPMed gnomAD
rs753270012 CA2367383	664	R>K		No	ClinGen ExAC gnomAD
CA2367382 rs763656444	665	E>K		No	ClinGen ExAC gnomAD
CA352551802 rs1399429507	668	E>Q		No	ClinGen gnomAD
CA352551757 rs1203610870	669	G>S		No	ClinGen TOPMed
CA352551735 rs1467017180	670	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs755746524 CA2367381	670	R>W		No	ClinGen ExAC TOPMed gnomAD
CA352551692 rs1576252531	671	H>P		No	ClinGen Ensembl
CA352551629 rs1184648276	672	P>L		No	ClinGen TOPMed
rs1361360873 CA352551607	673	Q>*		No	ClinGen gnomAD
CA73848225 rs950317369	674	D>A		No	ClinGen Ensembl
CA352551497 rs370739539	674	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs918739079 CA73848221	675	G>S		No	ClinGen TOPMed gnomAD
CA2367379 rs767799241	676	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2367378 rs376114087	676	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA352551443 rs376114087	676	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367376 rs766773480	678	A>V		No	ClinGen ExAC
CA352551321 rs1370681250	680	P>A		No	ClinGen TOPMed
rs1321204789 CA352551238	681	P>A		No	ClinGen TOPMed
rs770058714 CA2367373	682	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352551181 rs1373615034	683	G>W		No	ClinGen TOPMed
CA73848143 rs966132597	684	P>R		No	ClinGen TOPMed
CA73848147 rs559612800	684	P>S		No	ClinGen TOPMed gnomAD
rs145443669 CA2367369	686	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145443669 CA2367370	686	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1230169614 CA352551022	687	A>T		No	ClinGen gnomAD
CA352550972 rs1576252317	688	G>E		No	ClinGen Ensembl
rs757133959 CA2367366	692	A>G		No	ClinGen ExAC gnomAD
rs749300995 CA2367365	694	P>R		No	ClinGen ExAC gnomAD
CA73848118 rs867221700	694	P>T		No	ClinGen gnomAD
CA2367363 rs755622121	695	K>R		No	ClinGen ExAC gnomAD
rs752304672 CA2367362	697	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2367360 rs576433381	699	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs751838887 CA2367359	699	G>V		No	ClinGen ExAC TOPMed gnomAD
rs576433381 CA73848047	699	G>W		No	ClinGen 1000Genomes ExAC gnomAD
CA2367358 rs766835027	700	V>A		No	ClinGen ExAC TOPMed gnomAD
CA352550360 rs766835027	700	V>G		No	ClinGen ExAC TOPMed gnomAD
CA352550191 rs1179908351	702	A>V		No	ClinGen gnomAD
rs763355897 CA2367357	703	H>N		No	ClinGen ExAC TOPMed gnomAD
CA2367356 rs773872046	705	D>N		No	ClinGen ExAC TOPMed gnomAD
rs541369635 CA73848017	706	V>I		No	ClinGen TOPMed gnomAD
CA352549999 rs541369635	706	V>L		No	ClinGen TOPMed gnomAD
rs765343510 CA2367355	707	T>A		No	ClinGen ExAC gnomAD
rs867345228 CA73847997	707	T>M		No	ClinGen TOPMed gnomAD
CA73848005 rs867345228	707	T>R		No	ClinGen TOPMed gnomAD
CA2367353 rs776946620	708	L>P		No	ClinGen ExAC gnomAD
CA2367352 rs768982772	709	Y>H		No	ClinGen ExAC gnomAD
rs1351576667 CA352549844	710	K>Q		No	ClinGen gnomAD
rs746578522 CA2367322	713	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1332205170 CA352549212	717	A>G		No	ClinGen gnomAD
CA73847709 rs866383001	719	G>D		No	ClinGen Ensembl
rs1401343676 CA352549114	719	G>R		No	ClinGen gnomAD
CA352549027 rs1449328200	721	V>I		No	ClinGen TOPMed gnomAD
rs1455394069 CA352548990	722	L>F		No	ClinGen TOPMed gnomAD
CA2367316 rs555711337	724	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA352548886 rs1449617257	725	L>V		No	ClinGen gnomAD
CA352548853 rs1184718848	726	L>P		No	ClinGen gnomAD
CA2367313 rs760837280	731	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352548684 rs1202604067	731	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA352548677 rs1202604067	731	R>L		No	ClinGen TOPMed gnomAD
CA352548679 rs1202604067	731	R>P		No	ClinGen TOPMed gnomAD
rs767756854 CA2367311	732	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1367542667 CA352548635	734	C>R		No	ClinGen gnomAD
CA2367309 rs772986145	735	P>L	Variant assessed as Somatic; 6.535e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1224753 rs761681586 CA2367307	736	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs776635364 CA2367306	736	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1436417238 CA352548574	737	N>I		No	ClinGen gnomAD
CA352548547 rs1430027245	739	G>R		No	ClinGen TOPMed gnomAD
rs1393730430 CA352548522	740	Q>*		No	ClinGen TOPMed gnomAD
rs1421153405 CA352548510	740	Q>H		No	ClinGen gnomAD
CA352548501 rs1179648770	741	L>M		No	ClinGen gnomAD
rs1368820745 CA352548464	742	G>D		No	ClinGen TOPMed
CA2367302 rs771728213 CA73847590	746	G>R		No	ClinGen ExAC TOPMed gnomAD
CA73847586 rs771728213	746	G>W		No	ClinGen ExAC TOPMed gnomAD
CA2367300 rs779359225	747	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2367301 rs371768067	747	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749769930 CA2367297	748	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2367298 rs757697127	748	R>W		No	ClinGen ExAC TOPMed gnomAD
rs111955430 CA73847542	749	R>G		No	ClinGen Ensembl
CA2367296 rs527488110	749	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1357125060 CA352548265	750	R>C		No	ClinGen gnomAD
rs566797657 CA2367295	750	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs528093394 CA352548255 CA2367293	751	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352548234 rs1410173752	752	E>*		No	ClinGen gnomAD
rs1355967703 CA352548228	752	E>G		No	ClinGen gnomAD
CA352548238 rs1410173752	752	E>K		No	ClinGen gnomAD
rs1162245639 CA352548173	754	P>L		No	ClinGen gnomAD
rs755179051 CA73847461	756	D>N		No	ClinGen ExAC gnomAD
CA2367292 rs755179051	756	D>Y		No	ClinGen ExAC gnomAD
CA2367291 rs373741294	757	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367290 rs373741294	757	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs776385822 CA2367288	759	G>S		No	ClinGen ExAC TOPMed gnomAD
rs370331755 CA2367286	761	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA352547853 rs1275142313	763	P>L		No	ClinGen gnomAD
CA73847386 rs774174292	764	E>*		No	ClinGen ExAC gnomAD
CA2367282 rs774174292	764	E>K		No	ClinGen ExAC gnomAD
CA2367280 rs376014393	765	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367281 rs11546518	765	T>S		No	ClinGen ExAC
rs1033297853 CA352547715	767	I>M		No	ClinGen TOPMed gnomAD
rs756639053 CA2367278	768	V>M		No	ClinGen ExAC TOPMed gnomAD
CA73847348 rs867346192	769	P>Q		No	ClinGen Ensembl
rs1559540004 CA352547583	773	R>C		No	ClinGen Ensembl
CA352547580 rs1327364036	773	R>H		No	ClinGen TOPMed gnomAD
rs766611578 CA352547557	774	G>C		No	ClinGen ExAC TOPMed gnomAD
rs867962723 CA73847335	774	G>D		No	ClinGen Ensembl
rs766611578 CA2367272	774	G>S		No	ClinGen ExAC TOPMed gnomAD
CA73847332 rs1045394129	776	L>I		No	ClinGen Ensembl
CA73847325 rs865875852	777	M>I		No	ClinGen Ensembl
CA73847258 rs1050372965	778	D>N		No	ClinGen Ensembl
rs1188310633 CA352547460	779	I>F		No	ClinGen TOPMed gnomAD
rs1188310633 CA352547458	779	I>L		No	ClinGen TOPMed gnomAD
CA2367256 rs377329315	784	S>N		No	ClinGen ESP ExAC gnomAD
CA2367255 rs780150760	785	D>N		No	ClinGen ExAC TOPMed gnomAD
CA352547362 rs780150760	785	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA73847242 rs868781950	786	G>D		No	ClinGen Ensembl
CA352547344 rs750672909	786	G>R		No	ClinGen ExAC gnomAD
rs750672909 CA2367253	786	G>S		No	ClinGen ExAC gnomAD
rs1383374126 CA352547307	787	M>I		No	ClinGen gnomAD
rs1260350695 CA352547310	787	M>T		No	ClinGen TOPMed gnomAD
rs1377658455 CA352547234	790	V>L		No	ClinGen gnomAD
rs139126796 CA73847224	791	S>R		No	ClinGen ESP TOPMed gnomAD
rs755888712 CA2367251	792	C>S		No	ClinGen ExAC gnomAD
CA352547109 rs1172679309	794	L>M		No	ClinGen TOPMed gnomAD
CA352547031 rs1254064978	796	G>D		No	ClinGen gnomAD
CA352546981 rs1485918657	797	H>R		No	ClinGen gnomAD
rs1181201940 CA352546991	797	H>Y		No	ClinGen gnomAD
rs12487736 CA352546956	798	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_012203 rs12487736 CA2367248	798	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs762607828 CA2367245	800	V>L		No	ClinGen ExAC TOPMed gnomAD
rs762607828 CA352546877	800	V>M		No	ClinGen ExAC TOPMed gnomAD
rs772744421 CA2367244	801	W>C		No	ClinGen ExAC
rs763970860 CA73847165	802	D>N		No	ClinGen Ensembl
CA352546784 rs1311306236	803	A>T		No	ClinGen TOPMed gnomAD
CA2367242 rs762107973	803	A>V		No	ClinGen ExAC gnomAD
rs1300596519 CA352546731	804	Q>P		No	ClinGen gnomAD
CA2367240 rs769122576	806	G>R		No	ClinGen ExAC gnomAD
rs1397548496 CA352546604	808	C>Y		No	ClinGen TOPMed gnomAD
CA2367239 rs759168890	810	T>M		No	ClinGen ExAC gnomAD
rs780097807 CA2367238	811	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2367236 rs148982972	811	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs148982972 CA2367237	811	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367234 rs757544896	812	I>V		No	ClinGen ExAC TOPMed gnomAD
rs554079872 CA2367232	813	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752507188 CA2367233	813	P>T		No	ClinGen ExAC gnomAD
rs1486678670 CA352546307	814	R>C		No	ClinGen TOPMed
rs1250878334 CA352546285	814	R>H		No	ClinGen gnomAD
rs771049422 CA2367188	818	Q>H		No	ClinGen ExAC gnomAD
CA2367187 rs749464407	819	R>C		No	ClinGen ExAC TOPMed gnomAD
rs567401477 CA352545812	819	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs567401477 CA2367186	819	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs567401477 CA352545802	819	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs555145704 CA2367184	820	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555145704 CA2367183	820	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2367185 rs768531247	820	R>W		No	ClinGen ExAC TOPMed gnomAD
CA73846734 rs1040952240	821	D>E		No	ClinGen TOPMed
TCGA novel	823	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1373060807 CA352545660	823	G>S		No	ClinGen TOPMed
rs150328328 CA2367182 COSM1423605	824	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA2367181 rs745882687	827	G>R		No	ClinGen ExAC TOPMed gnomAD
rs778215976 CA2367180	830	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2367179 rs756770428	831	Q>R		No	ClinGen ExAC gnomAD
rs753435400 CA2367178	832	E>D		No	ClinGen ExAC gnomAD
rs1244390592 CA352545282	832	E>Q		No	ClinGen gnomAD
rs1485597993 CA352545221	833	S>N		No	ClinGen TOPMed gnomAD
CA2367177 rs777376898	833	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	834	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352545189 rs1484703711	834	W>L		No	ClinGen TOPMed
rs755816164 CA2367176	834	W>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	836	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752994133 CA2367175	836	R>P		No	ClinGen ExAC gnomAD
CA2367174 rs767994630	838	S>P		No	ClinGen ExAC TOPMed gnomAD
CA352545061 rs1341551376	839	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352545047 rs1282438146	839	D>V		No	ClinGen TOPMed gnomAD
CA2367171 rs766321275	840	G>A		No	ClinGen ExAC gnomAD
CA73846630 rs1049892549	840	G>S		No	ClinGen Ensembl
CA352544974 rs1368370259	841	G>V		No	ClinGen TOPMed gnomAD
CA352544982 rs1416361141	841	G>W		No	ClinGen gnomAD
CA2367169 rs773465508	844	G>D		No	ClinGen ExAC TOPMed gnomAD
rs763156621 CA2367170	844	G>S		No	ClinGen ExAC gnomAD
rs1576248060 CA352544849	845	P>A		No	ClinGen Ensembl
CA352544786 rs1160898421	847	E>K		No	ClinGen gnomAD
rs1475184656 CA352544709	848	P>S		No	ClinGen gnomAD
rs1392763722 CA352542446	850	D>E		No	ClinGen TOPMed
rs1190572811 CA352542464	850	D>N		No	ClinGen gnomAD
TCGA novel	851	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2367166 rs369093642	852	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs771903635 CA2367165	853	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs778927789 CA2367163	854	L>P		No	ClinGen ExAC TOPMed
CA2367162 rs770899316	855	R>K		No	ClinGen ExAC gnomAD
CA2367161 rs566686755	856	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151151424 CA2367160	857	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755762666 CA2367159	857	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1348391954 CA352542210	858	P>L		No	ClinGen TOPMed gnomAD
CA352542219 rs1348391954	858	P>R		No	ClinGen TOPMed gnomAD
rs752400239 CA2367158	858	P>S		No	ClinGen ExAC TOPMed gnomAD
rs752400239 CA73846548	858	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2367156 rs755393003	859	R>G		No	ClinGen ExAC TOPMed gnomAD
rs142311061 CA73846528	859	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs142311061 CA2367155	859	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367157 rs755393003	859	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1390713651 CA352542185	860	G>D		No	ClinGen Ensembl
rs763603487 CA2367153	861	P>L		No	ClinGen ExAC gnomAD
rs750516026 CA2367152	862	P>L		No	ClinGen ExAC TOPMed gnomAD
CA352542135 rs750516026	862	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2367151 rs765477220	863	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2367150 rs762057428	863	P>L		No	ClinGen ExAC gnomAD
rs762057428 CA352542118	863	P>Q		No	ClinGen ExAC gnomAD
rs1559538496 CA352542098	864	P>S		No	ClinGen Ensembl
rs759401951 CA2367147	866	L>F		No	ClinGen ExAC TOPMed gnomAD
rs759401951 CA2367148	866	L>V		No	ClinGen ExAC TOPMed gnomAD
CA2367144 rs749293673	868	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749293673 CA2367143	868	G>W		No	ClinGen ExAC TOPMed gnomAD
rs769308756 CA2367140	870	Q>*		No	ClinGen ExAC gnomAD
COSM4005552 CA2367139 rs747708395	871	P>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA352541859 rs1375135517	873	L>I		No	ClinGen gnomAD
rs754626642 CA2367137	873	L>P		No	ClinGen ExAC gnomAD
CA352541823 rs1439604197	874	T>I		No	ClinGen gnomAD
rs747377304 CA2367136	875	C>*		No	ClinGen ExAC gnomAD
CA352541805 rs1339255701	875	C>S		No	ClinGen TOPMed gnomAD
rs145272691 CA2367135	877	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1268934804 CA352541774	877	I>V		No	ClinGen TOPMed gnomAD
CA352541662 rs758968695	882	S>P		No	ClinGen ExAC TOPMed gnomAD
CA2367134 rs758968695	882	S>T		No	ClinGen ExAC TOPMed gnomAD
CA352541636 rs1402784347	883	A>V		No	ClinGen gnomAD
rs753963651 CA2367130	886	R>Q		No	ClinGen ExAC gnomAD
rs757378452 CA2367131	886	R>W		No	ClinGen ExAC gnomAD
rs764342489 CA2367129	889	Q>E		No	ClinGen ExAC gnomAD
CA2367128 rs760867030	890	P>L		No	ClinGen ExAC gnomAD
rs1241423321 CA352541499	893	P>S		No	ClinGen TOPMed gnomAD
CA352541472 rs1277837017	894	E>A		No	ClinGen gnomAD
CA2367126 rs766168592	894	E>K		No	ClinGen ExAC TOPMed gnomAD
CA352541479 rs766168592	894	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1348099071 CA352541447	895	P>L		No	ClinGen gnomAD
rs1233122437 CA352541457	895	P>S		No	ClinGen gnomAD
CA352541443 rs773156068	896	R>P		No	ClinGen ExAC TOPMed gnomAD
rs773156068 CA2367124	896	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2367125 rs770175018	896	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2367123 rs769255146	897	H>N		No	ClinGen ExAC gnomAD
CA352541403 rs747663130	898	R>L		No	ClinGen ExAC TOPMed gnomAD
rs747663130 CA2367122	898	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA73846309 rs997089172	898	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA352541395 rs1408897305	899	A>T		No	ClinGen gnomAD
CA2367121 rs750731829	899	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2367117 rs376908189	903	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs746325606 CA2367116	903	R>H		No	ClinGen ExAC gnomAD
CA2367113 rs17849129	905	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757740492 CA2367114	905	R>W		No	ClinGen ExAC TOPMed gnomAD
rs764150829 CA2367112	907	S>Y		No	ClinGen ExAC gnomAD
CA2367111 rs756295971	908	P>L		No	ClinGen ExAC gnomAD
CA352541203 rs1281997957	910	Y>C		No	ClinGen TOPMed gnomAD
rs752932099 CA352541109	911	D>E		No	ClinGen ExAC TOPMed gnomAD
CA73846236 rs549194330	912	F>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs766115624 CA2367109	914	C>F		No	ClinGen ExAC gnomAD
rs923983895 CA73846228	914	C>R		No	ClinGen TOPMed gnomAD
CA2367108 rs762770534	917	Q>R		No	ClinGen ExAC TOPMed
CA2367106 rs765199964	918	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2367107 rs773031188	918	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1377562283 CA352540851	919	V>A		No	ClinGen gnomAD
CA352540817 rs1306397710	920	Y>C		No	ClinGen TOPMed gnomAD
CA73846169 rs990990102	921	Q>E		No	ClinGen TOPMed
rs776199950 CA2367104	922	E>G		No	ClinGen ExAC gnomAD
rs527747059 CA2367103	923	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369719720 CA2367102	924	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242185686 CA352540705	924	G>W		No	ClinGen TOPMed
CA2367101 rs17849130	926	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs961376291 CA73846125	927	A>V		No	ClinGen TOPMed
rs1259264772 CA352540582	928	V>A		No	ClinGen TOPMed gnomAD
CA2367098 rs545156613	928	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1559537939 CA352540542	929	C>G		No	ClinGen Ensembl
CA352540476 rs1279775827	931	P>Q		No	ClinGen gnomAD
CA2367097 rs372158341	934	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs749766376 CA2367096	934	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA73846118 rs749766376	934	R>P		No	ClinGen ExAC TOPMed gnomAD
CA352540388 rs372158341	934	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367095 rs577957885	937	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2367093 rs563036746	938	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1336090215 CA352540312	938	P>R		No	ClinGen gnomAD
rs563036746 CA352540314	938	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352540289 rs1234352181	939	G>E		No	ClinGen TOPMed gnomAD
CA2367091 rs747446698	940	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs747446698 CA352540276	940	P>R		No	ClinGen ExAC TOPMed gnomAD
rs200636530 CA2367092	940	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765009239 CA2367089	944	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1421288143 CA352540164	944	Q>L		No	ClinGen gnomAD
rs573539484 CA2367088	945	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352540108 rs1189180834	946	P>A		No	ClinGen TOPMed
rs753731611 CA73846080	948	D>E		No	ClinGen ExAC TOPMed gnomAD
rs62248581 CA73846066	949	E>D		No	ClinGen Ensembl
CA2367086 rs555307517	949	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352540002 rs555307517	949	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760290855 CA2367085	950	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1408849138 CA352539916	951	G>D		No	ClinGen TOPMed
rs775176341 CA73846056	952	S>C		No	ClinGen ExAC TOPMed gnomAD
rs775176341 CA2367084	952	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2367082 rs759333589	953	P>L		No	ClinGen ExAC gnomAD
rs1418188541 CA352539859	953	P>S		No	ClinGen gnomAD
CA2367078 rs778175096	954	E>A		No	ClinGen ExAC gnomAD
CA2367079 rs749756737	954	E>K		No	ClinGen ExAC TOPMed gnomAD
CA73846039 rs368667083	956	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368667083 CA2367077	956	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA73846030 rs866252133	957	S>Y		No	ClinGen Ensembl
rs1337518297 CA352539677	958	P>L		No	ClinGen gnomAD
CA352539662 rs1259364079	959	S>F		No	ClinGen gnomAD
rs748205031 CA2367076	960	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2367073 rs377731584	961	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377731584 CA73845984	961	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2367072 rs377731584	961	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352539617 rs1438889819	961	A>V		No	ClinGen gnomAD
rs1278993006 CA352539595	962	W>C		No	ClinGen TOPMed
rs753765541 CA2367070	964	P>L		No	ClinGen ExAC gnomAD
CA352539572 rs1348207034	964	P>S		No	ClinGen TOPMed
rs1392752076 CA352539538	965	S>I		No	ClinGen gnomAD
rs752237681 CA2367067	967	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2367065 rs759211135	970	I>V		No	ClinGen ExAC
CA352539335 rs1452118290	974	E>A		No	ClinGen gnomAD
CA352539311 rs1251857981	975	L>P		No	ClinGen gnomAD
CA73845881 rs948607536	976	Q>R		No	ClinGen Ensembl
rs1260237196 CA352539228	979	L>H		No	ClinGen gnomAD
rs763198090 CA2367063	980	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1351849465 CA352539214	980	I>T		No	ClinGen gnomAD
rs1204978866 CA352539224	980	I>V		No	ClinGen TOPMed gnomAD
CA352539203 rs1232388951	981	V>M		No	ClinGen TOPMed gnomAD
CA352539183 rs1174482344	982	V>M		No	ClinGen TOPMed
CA352539156 rs1559537534	983	G>E		No	ClinGen Ensembl
TCGA novel	983	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367967894 CA2367060	984	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2367061 rs374675395	984	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1443165914 CA352539105	986	S>I		No	ClinGen gnomAD
rs748720251 CA352539102	986	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	987	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374090479 CA2367058	987	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2367055 rs780168122	988	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2367057 rs148460850	988	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA352538914 rs1475081788	991	V>A		No	ClinGen gnomAD
rs1475081788 CA352538911	991	V>G		No	ClinGen gnomAD
CA352538886 rs1273028604	992	W>*		No	ClinGen TOPMed
rs1212397751 CA352538891	992	W>L		No	ClinGen TOPMed
rs765981772 CA2367024	994	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1538040 CA2367023 rs757920492	994	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA352538837 rs1272412706	995	I>T		No	ClinGen gnomAD
CA352538834 rs1196420465	996	E>K		No	ClinGen TOPMed gnomAD
rs1576246017 CA352538803	998	V>G		No	ClinGen Ensembl
rs750103551 CA2367022	998	V>M		No	ClinGen ExAC gnomAD
CA352538760 rs1428195699	1002	S>G		No	ClinGen TOPMed
rs1186501488 CA352538756	1002	S>T		No	ClinGen TOPMed gnomAD
CA73845639 rs905307221	1004	E>K		No	ClinGen TOPMed gnomAD
CA2367017 rs775423834	1005	E>D		No	ClinGen ExAC TOPMed gnomAD
CA2367018 rs764560230	1005	E>V		No	ClinGen ExAC gnomAD
CA352538722 rs1559537219	1007	S>F		No	ClinGen Ensembl
CA2367013 rs142752447	1010	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1286651207 CA352538700	1011	T>A		No	ClinGen TOPMed
rs1383588785 CA352538698	1011	T>N		No	ClinGen TOPMed
rs187172584 CA352538695	1012	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs187172584 CA2367010	1012	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA352538690 rs1461326810	1013	L>M		No	ClinGen gnomAD
CA352538688 rs1419055064	1013	L>Q		No	ClinGen gnomAD
rs1183920651 CA352538681	1014	V>E		No	ClinGen gnomAD
CA352538685 rs1293059945	1014	V>M		No	ClinGen TOPMed
CA2367009 rs747934587	1015	F>L		No	ClinGen ExAC TOPMed gnomAD
CA73845585 rs202138249	1015	F>L		No	ClinGen 1000Genomes
CA352538676 rs1468831947	1015	F>S		No	ClinGen gnomAD
rs368071859 CA2367007	1018	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1019	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA352573959 rs1188410438	1019	R>S		No	ClinGen TOPMed
rs1411660755 CA352573937	1021	V>A		No	ClinGen TOPMed
CA352573925 rs1300671938	1022	A>G		No	ClinGen gnomAD
CA352573923 rs1300671938	1022	A>V		No	ClinGen gnomAD
CA2366990 rs375413175	1024	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA352573905 rs1295799594	1024	R>Q		No	ClinGen TOPMed gnomAD
CA2366991 rs375413175	1024	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs746870930 CA2366989	1025	L>F		No	ClinGen ExAC TOPMed gnomAD
rs146394177 CA73890233	1025	L>P		No	ClinGen ESP TOPMed gnomAD
CA73890222 rs960184981	1027	G>D		No	ClinGen TOPMed
rs780072470 CA2366988	1027	G>S		No	ClinGen ExAC TOPMed gnomAD
rs199884823 CA352573818	1035	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs745356806 CA2366986	1035	E>K		No	ClinGen ExAC gnomAD
CA2366984 rs756897137	1036	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1381314459 CA352573782	1039	A>T		No	ClinGen TOPMed
CA2366982 rs777953785	1041	S>G		No	ClinGen ExAC gnomAD
CA73890186 rs946595682	1042	P>H		No	ClinGen gnomAD
CA352573734 rs1302693802	1043	L>P		No	ClinGen gnomAD
rs753047516 CA2366979	1046	R>G		No	ClinGen ExAC
CA2366957 rs758579693	1048	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1576241564 CA352573632	1048	T>P		No	ClinGen Ensembl
rs758579693 CA352573627	1048	T>S		No	ClinGen ExAC TOPMed gnomAD
rs367896018 CA2366956	1050	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2366955 rs761995577	1051	R>G		No	ClinGen ExAC gnomAD
CA2366953 rs201451588	1051	R>Q		No	ClinGen ExAC gnomAD
rs761995577 CA2366954	1051	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA352573577 rs1424076109	1052	G>S		No	ClinGen gnomAD
CA2366952 rs767218076	1053	S>R		No	ClinGen ExAC gnomAD
CA352573547 rs1175033992	1054	S>P		No	ClinGen gnomAD
rs1576241490 CA352573533	1055	P>S		No	ClinGen Ensembl
rs963556702 CA73890028	1056	A>T		No	ClinGen TOPMed
rs759407087 CA2366950	1059	V>M		No	ClinGen ExAC gnomAD
CA73890023 rs1017818787	1062	S>G		No	ClinGen TOPMed
rs1272984976 CA352573368	1064	D>A		No	ClinGen TOPMed gnomAD
rs1272984976 CA352573365	1064	D>G		No	ClinGen TOPMed gnomAD
CA2366947 rs772658776	1064	D>H		No	ClinGen ExAC
rs772658776 CA2366946	1064	D>N		No	ClinGen ExAC
CA352573319 rs781565109	1067	A>P		No	ClinGen ExAC gnomAD
CA2366943 rs781565109	1067	A>S		No	ClinGen ExAC gnomAD
CA2366944 rs781565109	1067	A>T		No	ClinGen ExAC gnomAD
rs1305127011 CA352573304	1067	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	1068	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2366942 rs755417165	1068	C>Y		No	ClinGen ExAC gnomAD
CA2366940 rs374083383	1069	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138723907 CA2366941	1069	H>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1448949090 CA352573254	1071	T>A		No	ClinGen gnomAD
CA352573243 rs1392162162	1071	T>I		No	ClinGen gnomAD
CA2366938 rs750502951	1072	H>Q		No	ClinGen ExAC gnomAD
rs1576241313 CA352573209	1073	T>I		No	ClinGen Ensembl
CA352573170 rs1418097637	1076	C>S		No	ClinGen TOPMed gnomAD
CA352573172 rs1418097637	1076	C>Y		No	ClinGen TOPMed gnomAD
rs148360386 CA2366936	1078	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1576241276 CA352573095	1080	K>N		No	ClinGen Ensembl
rs754017523 CA2366935	1081	P>H		No	ClinGen ExAC TOPMed gnomAD
rs759298649 CA2366933	1082	I>M		No	ClinGen ExAC gnomAD
CA2366934 rs767248971	1082	I>V		No	ClinGen ExAC gnomAD
rs1397452287 CA352573056	1083	T>A		No	ClinGen TOPMed
rs946020719 CA73889920	1083	T>I		No	ClinGen TOPMed gnomAD
rs148862651 CA2366932	1084	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA352573000 rs1337148234	1086	K>R		No	ClinGen TOPMed
CA352572975 rs372311997	1088	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs372311997 CA2366930	1088	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1311609540 CA352572935	1090	G>A		No	ClinGen gnomAD
rs769201313 CA2366928	1091	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA352572923 COSM3945530 rs1322810363	1091	R>H	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1322810363 CA352572920	1091	R>L		No	ClinGen TOPMed gnomAD
rs1286857176 CA352572773	1100	T>I		No	ClinGen TOPMed gnomAD
rs768460492 CA2366925	1102	R>*		No	ClinGen ExAC TOPMed gnomAD
rs145829837 CA73889599	1104	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779316145 CA2366902	1105	R>C		No	ClinGen ExAC TOPMed gnomAD
rs746193507 CA2366901	1105	R>H		No	ClinGen ExAC TOPMed gnomAD
CA352572644 rs1576240538	1108	D>A		No	ClinGen Ensembl
CA2366900 rs749317735	1108	D>N		No	ClinGen ExAC gnomAD
CA2366898 rs537308511	1109	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2366899 rs777899838	1109	S>P		No	ClinGen ExAC TOPMed gnomAD
CA352572562 rs1395054519	1114	T>S		No	ClinGen gnomAD
rs1466550927 CA352572544	1116	Q>*		No	ClinGen gnomAD
rs770001989 CA73889491	1123	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs201148221 CA2366892	1125	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs199738061 CA2366891	1126	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA352572416 rs1231204167	1127	I>T		No	ClinGen TOPMed gnomAD
rs760342147 CA2366889 COSM1423603	1127	I>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1355278775 CA352572390	1129	Q>P		No	ClinGen gnomAD
CA352572312 rs1159390934	1130	T>A		No	ClinGen gnomAD
CA352572291 rs1441618571	1131	M>T		No	ClinGen TOPMed gnomAD
CA2366867 rs767066659	1132	V>L		No	ClinGen ExAC gnomAD
TCGA novel	1143	C>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs975769798 CA73889086	1143	C>Y		No	ClinGen TOPMed
CA2366863 rs145304115	1147	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1355241256 CA352571993	1148	L>M		No	ClinGen gnomAD
CA2366862 rs773740826	1149	T>I		No	ClinGen ExAC gnomAD
COSM1045601 CA2366860 rs748207050	1152	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2366861 rs770327035	1152	R>W		No	ClinGen ExAC TOPMed gnomAD
CA352571909 rs1576239689	1153	V>G		No	ClinGen Ensembl
rs151202256 CA2366859	1153	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1576239676 CA352571872	1155	H>P		No	ClinGen Ensembl
rs1299038241 CA352571856	1156	V>L		No	ClinGen gnomAD
rs747259009 CA2366858	1160	R>C		No	ClinGen ExAC gnomAD
rs747259009 CA2366857	1160	R>G		No	ClinGen ExAC gnomAD
rs778510155 CA2366856	1160	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2366855 rs770868179	1161	G>R		No	ClinGen ExAC gnomAD
CA352571734 rs1576239617	1164	T>P		No	ClinGen Ensembl
rs1184875527 CA352571690	1167	T>A		No	ClinGen TOPMed
rs967954059 CA73889031	1167	T>I		No	ClinGen TOPMed
CA352571671 rs1576239576	1168	C>F		No	ClinGen Ensembl
rs1429346355 CA352571677	1168	C>G		No	ClinGen TOPMed
CA2366853 rs777819308	1170	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2366852 rs201231966	1170	T>N		No	ClinGen ExAC TOPMed gnomAD
CA2366851 rs148754419	1171	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2366850 rs780762321	1174	I>V		No	ClinGen ExAC gnomAD
CA2366849 rs754532647	1176	S>G		No	ClinGen ExAC gnomAD
rs1351597904 CA352571569	1176	S>N		No	ClinGen TOPMed
CA2366848 rs563706156	1178	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA352571496 rs1217268319	1180	D>G		No	ClinGen TOPMed gnomAD
rs1281346457 CA352571506	1180	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA352571502 rs1281346457	1180	D>Y		No	ClinGen gnomAD
rs763273706 CA2366846	1181	L>F		No	ClinGen ExAC gnomAD
rs750837437 CA73888974	1183	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1402120193 CA352571453	1183	S>N		No	ClinGen gnomAD
rs750837437 CA2366845	1183	S>R		No	ClinGen ExAC TOPMed gnomAD
rs765716914 CA2366844	1186	D>V		No	ClinGen ExAC gnomAD
rs1302387216 CA352571369	1187	R>C		No	ClinGen gnomAD
CA73888972 rs956166651	1187	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1312547190 CA352571351	1188	S>G		No	ClinGen TOPMed
rs1358241221 CA352571320	1189	T>I		No	ClinGen TOPMed
CA2366842 rs776507479	1191	I>M		No	ClinGen ExAC gnomAD
CA352571265 rs1245757942	1192	K>R		No	ClinGen TOPMed
rs760756238 TCGA novel CA2366840	1193	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
CA73888965 rs1002881726	1193	F>L		No	ClinGen TOPMed gnomAD
rs1037523216 CA73888750	1201	G>D		No	ClinGen Ensembl
TCGA novel	1202	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239501379 CA352571088	1203	G>C		No	ClinGen TOPMed gnomAD
rs1376155291 CA352571086	1203	G>D		No	ClinGen gnomAD
rs1239501379 CA352571090	1203	G>R		No	ClinGen TOPMed gnomAD
rs1239501379 CA352571092	1203	G>S		No	ClinGen TOPMed gnomAD
CA352571060 rs1576239026	1205	S>T		No	ClinGen Ensembl
CA352571034 rs1393005813	1207	G>C		No	ClinGen gnomAD
rs773084832 CA2366814	1207	G>D		No	ClinGen ExAC gnomAD
rs371906022 CA2366813	1208	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2366811 rs754056645	1212	N>S		No	ClinGen ExAC TOPMed gnomAD
CA352570945 rs1576238951	1216	T>P		No	ClinGen Ensembl
CA2366809 rs201494816 COSM1328195	1218	G>S	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs1489622279 CA352570892	1221	C>S		No	ClinGen gnomAD
rs922965215 CA73888667	1222	V>L		No	ClinGen Ensembl
CA2366806 rs137940863	1223	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288197610 CA352570868	1224	F>I		No	ClinGen TOPMed gnomAD
CA352570864 rs1288197610	1224	F>V		No	ClinGen TOPMed gnomAD
CA352570834 rs1576238852	1226	D>G		No	ClinGen Ensembl
CA2366803 rs754193247	1227	L>V		No	ClinGen ExAC gnomAD
rs1559533694 CA352570817	1228	N>T		No	ClinGen Ensembl
CA352570797 rs1458699881	1230	G>R		No	ClinGen TOPMed
rs1187212020 CA352570781	1231	D>V		No	ClinGen gnomAD
CA2366800 rs570212243	1232	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs767719888 CA2366799	1234	Q>E		No	ClinGen ExAC
rs746678809	1235	T>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA73888602 rs879130747	1235	T>I		No	ClinGen gnomAD
rs148914389 CA2366798	1236	V>A		No	ClinGen ESP ExAC
rs910213964 CA73888569	1239	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2366796 rs774745158	1239	G>R		No	ClinGen ExAC gnomAD
rs914732798 CA73888560	1240	K>E		No	ClinGen Ensembl
rs1335846701 CA352570686	1241	N>K		No	ClinGen TOPMed
CA2366794 rs761649767	1243	E>K		No	ClinGen ExAC TOPMed
rs1576238654 CA352570650	1245	Q>E		No	ClinGen Ensembl
CA2366792 rs768636607	1246	P>A		No	ClinGen ExAC gnomAD
CA73888543 rs990331894	1246	P>L		No	ClinGen Ensembl
CA2366791 rs372044719	1248	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs185806499 CA2366790	1248	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1351671116 CA352570609	1249	Q>L		No	ClinGen TOPMed
rs981556332 CA73888520	1250	I>M		No	ClinGen gnomAD
TCGA novel	1250	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559533518 CA352570584	1252	V>L		No	ClinGen Ensembl
rs1559533508 CA352570572	1253	L>R		No	ClinGen Ensembl
rs968405994 CA73888508	1254	D>G		No	ClinGen TOPMed
rs771588257 CA2366789	1255	N>S		No	ClinGen ExAC gnomAD
rs778505510 CA2366787	1256	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA352570542 rs1322994568	1256	A>V		No	ClinGen TOPMed
CA352570513 rs1325448719	1260	C>R		No	ClinGen gnomAD
CA2366785 rs146478019	1261	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2366784 rs146478019	1261	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs753279911 CA2366782	1262	F>S		No	ClinGen ExAC gnomAD
CA2366783 rs756588071	1262	F>V		No	ClinGen ExAC gnomAD
CA352570419 rs1471214773	1269	V>L		No	ClinGen gnomAD
CA352570390 rs1170373870	1271	V>G		No	ClinGen gnomAD
rs1244048754 CA352570383	1272	P>L		No	ClinGen gnomAD
rs1441924994 CA352570379	1273	S>A		No	ClinGen TOPMed gnomAD
rs763154886 CA2366777	1273	S>F		No	ClinGen ExAC gnomAD
CA352570377 rs1441924994	1273	S>P		No	ClinGen TOPMed gnomAD
rs1255969136 CA352570334	1277	K>N		No	ClinGen gnomAD

No associated diseases with Q12770

7 regional properties for Q12770

Type	Name	Position	InterPro Accession
domain	Sterol-sensing domain	284 - 452	IPR000731
repeat	WD40 repeat	765 - 802	IPR001680-1
repeat	WD40 repeat	955 - 993	IPR001680-2
repeat	WD40 repeat	1067 - 1105	IPR001680-3
repeat	WD40 repeat	1108 - 1186	IPR001680-4
repeat	WD40 repeat	1189 - 1226	IPR001680-5
conserved_site	WD40 repeat, conserved site	1133 - 1147	IPR019775

Functions

		Description
EC Number
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass membrane protein Golgi apparatus membrane ; Multi-pass membrane protein Cytoplasmic vesicle, COPII-coated vesicle membrane ; Multi-pass membrane protein	Moves from the endoplasmic reticulum to the Golgi in the absence of sterols (By similarity) Requires the presence of SPRING1 for proper localization to endoplasmic reticulum (PubMed:32111832)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
ER to Golgi transport vesicle membrane	The lipid bilayer surrounding a vesicle transporting substances from the endoplasmic reticulum to the Golgi.
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.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
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.
SREBP-SCAP complex	A protein complex formed by the association of sterol regulatory element binding protein (SREBP) and SREBP-cleavage-activating protein (SCAP) in the ER membrane; in the absence of sterols, the SREBP-SCAP complex is packaged into COPII vesicles and travels to the Golgi apparatus to be processed.

3 GO annotations of molecular function

Name	Definition
protein-containing complex binding	Binding to a macromolecular complex.
sterol binding	Binding to a sterol, a steroid containing a hydroxy group in the 3 position, closely related to cholestan-3-ol.
unfolded protein binding	Binding to an unfolded protein.

12 GO annotations of biological process

Name	Definition
aging	A developmental process that is a deterioration and loss of function over time. Aging includes loss of functions such as resistance to disease, homeostasis, and fertility, as well as wear and tear. Aging includes cellular senescence, but is more inclusive. May precede death and may succeed developmental maturation (GO:0021700).
cellular lipid metabolic process	The chemical reactions and pathways involving lipids, as carried out by individual cells.
cholesterol metabolic process	The chemical reactions and pathways involving cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones. It is a component of the plasma membrane lipid bilayer and of plasma lipoproteins and can be found in all animal tissues.
COPII-coated vesicle cargo loading	The formation of a macromolecular complex between the COPII coat proteins and proteins and/or lipoproteins that are going to be transported by the COPII vesicle to the Golgi.
immune response	Any immune system process that functions in the calibrated response of an organism to a potential internal or invasive threat.
negative regulation of cholesterol biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.
positive regulation of cholesterol biosynthetic process	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.
regulation of cholesterol biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of cholesterol.
regulation of fatty acid biosynthetic process	Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of fatty acids, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils.
response to hypoxia	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating lowered oxygen tension. Hypoxia, defined as a decline in O2 levels below normoxic levels of 20.8 - 20.95%, results in metabolic adaptation at both the cellular and organismal level.
response to insulin	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms.
SREBP signaling pathway	The series of molecular signals from the endoplasmic reticulum to the nucleus generated as a consequence of decreased levels of one or more sterols (and in some yeast, changes in oxygen levels) and which proceeds through activation of a sterol response element binding transcription factor (SREBP) to result in up-regulation of target gene transcription.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P34389	ncr-2	NPC intracellular cholesterol transporter 1 homolog 2	Caenorhabditis elegans	PR

10	20	30	40	50	60
MTLTERLREK	ISRAFYNHGL	LCASYPIPII	LFTGFCILAC	CYPLLKLPLP	GTGPVEFTTP
70	80	90	100	110	120
VKDYSPPPVD	SDRKQGEPTE	QPEWYVGAPV	AYVQQIFVKS	SVFPWHKNLL	AVDVFRSPLS
130	140	150	160	170	180
RAFQLVEEIR	NHVLRDSSGI	RSLEELCLQV	TDLLPGLRKL	RNLLPEHGCL	LLSPGNFWQN
190	200	210	220	230	240
DWERFHADPD	IIGTIHQHEP	KTLQTSATLK	DLLFGVPGKY	SGVSLYTRKR	MVSYTITLVF
250	260	270	280	290	300
QHYHAKFLGS	LRARLMLLHP	SPNCSLRAES	LVHVHFKEEI	GVAELIPLVT	TYIILFAYIY
310	320	330	340	350	360
FSTRKIDMVK	SKWGLALAAV	VTVLSSLLMS	VGLCTLFGLT	PTLNGGEIFP	YLVVVIGLEN
370	380	390	400	410	420
VLVLTKSVVS	TPVDLEVKLR	IAQGLSSESW	SIMKNMATEL	GIILIGYFTL	VPAIQEFCLF
430	440	450	460	470	480
AVVGLVSDFF	LQMLFFTTVL	SIDIRRMELA	DLNKRLPPEA	CLPSAKPVGQ	PTRYERQLAV
490	500	510	520	530	540
RPSTPHTITL	QPSSFRNLRL	PKRLRVVYFL	ARTRLAQRLI	MAGTVVWIGI	LVYTDPAGLR
550	560	570	580	590	600
NYLAAQVTEQ	SPLGEGALAP	MPVPSGMLPP	SHPDPAFSIF	PPDAPKLPEN	QTSPGESPER
610	620	630	640	650	660
GGPAEVVHDS	PVPEVTWGPE	DEELWRKLSF	RHWPTLFSYY	NITLAKRYIS	LLPVIPVTLR
670	680	690	700	710	720
LNPREALEGR	HPQDGRSAWP	PPGPIPAGHW	EAGPKGPGGV	QAHGDVTLYK	VAALGLATGI
730	740	750	760	770	780
VLVLLLLCLY	RVLCPRNYGQ	LGGGPGRRRR	GELPCDDYGY	APPETEIVPL	VLRGHLMDIE
790	800	810	820	830	840
CLASDGMLLV	SCCLAGHVCV	WDAQTGDCLT	RIPRPGRQRR	DSGVGSGLEA	QESWERLSDG
850	860	870	880	890	900
GKAGPEEPGD	SPPLRHRPRG	PPPPSLFGDQ	PDLTCLIDTN	FSAQPRSSQP	TQPEPRHRAV
910	920	930	940	950	960
CGRSRDSPGY	DFSCLVQRVY	QEEGLAAVCT	PALRPPSPGP	VLSQAPEDEG	GSPEKGSPSL
970	980	990	1000	1010	1020
AWAPSAEGSI	WSLELQGNLI	VVGRSSGRLE	VWDAIEGVLC	CSSEEVSSGI	TALVFLDKRI
1030	1040	1050	1060	1070	1080
VAARLNGSLD	FFSLETHTAL	SPLQFRGTPG	RGSSPASPVY	SSSDTVACHL	THTVPCAHQK
1090	1100	1110	1120	1130	1140
PITALKAAAG	RLVTGSQDHT	LRVFRLEDSC	CLFTLQGHSG	AITTVYIDQT	MVLASGGQDG
1150	1160	1170	1180	1190	1200
AICLWDVLTG	SRVSHVFAHR	GDVTSLTCTT	SCVISSGLDD	LISIWDRSTG	IKFYSIQQDL
1210	1220	1230	1240	1250	1260
GCGASLGVIS	DNLLVTGGQG	CVSFWDLNYG	DLLQTVYLGK	NSEAQPARQI	LVLDNAAIVC
1270
NFGSELSLVY	VPSVLEKLD