AiPD: Autoinhibited Protein Database

Q99570

Gene name	PIK3R4 (VPS15)
Protein name	Phosphoinositide 3-kinase regulatory subunit 4
Names	PI3-kinase regulatory subunit 4, PI3-kinase p150 subunit, Phosphoinositide 3-kinase adaptor protein
Species	Homo sapiens (Human)
KEGG Pathway	hsa:30849
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

716-954 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

716-954 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

165-195 (Activation loop from InterPro)

Target domain	26-324 (Protein kinase domain)
Relief mechanism
Assay

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

4 structures for Q99570

Entry ID	Method	Resolution	Chain	Position	Source
7BL1	EM	980 A	CCC	1-1358	PDB
8SOR	EM	396 A	A	1-1358	PDB
8SRQ	EM	620 A	W	15-1358	PDB
AF-Q99570-F1	Predicted				AlphaFoldDB

866 variants for Q99570

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA354533638 COSM1038301 rs1334785650	3	N>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs765628638 CA2614637	4	Q>L		No	ClinGen ExAC gnomAD
CA354533577 rs1174287471	7	G>A		No	ClinGen gnomAD
rs1427373770 CA354533584	7	G>S		No	ClinGen gnomAD
rs906559450 CA83518191	8	I>T		No	ClinGen Ensembl
CA354533545 rs759923898	10	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2614635 rs777072326	10	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2614636 rs759923898	10	P>S		No	ClinGen ExAC TOPMed gnomAD
CA83518165 rs868062554	14	L>F		No	ClinGen Ensembl
CA354533474 rs1241849118	16	V>I		No	ClinGen gnomAD
CA2614630 COSM3774530 rs143147652	17	E>D	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs1317981648 CA354533343	24	H>R		No	ClinGen gnomAD
CA2614627 rs539386366	27	E>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1279749987 CA354533302	27	E>Q		No	ClinGen gnomAD
CA2614626 rs781205468	31	S>N		No	ClinGen ExAC gnomAD
CA2614625 rs757205337	34	S>N		No	ClinGen ExAC gnomAD
rs1215063028 CA354533213	36	R>L		No	ClinGen gnomAD
CA354533216 rs1335990162	36	R>W		No	ClinGen gnomAD
rs758612999 CA2614622	42	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs765466339 CA2614620	46	R>Q		No	ClinGen ExAC gnomAD
CA83518025 rs745410797	48	G>V		No	ClinGen TOPMed gnomAD
rs887250589 CA83518021	51	V>I		No	ClinGen Ensembl
CA354533035 rs778600874	52	V>L		No	ClinGen TOPMed gnomAD
rs778600874 CA83517982	52	V>M		No	ClinGen TOPMed gnomAD
CA83517974 rs1049073311	54	V>F		No	ClinGen gnomAD
rs1259376647 CA354533003	54	V>G		No	ClinGen gnomAD
CA354532989 rs1196386639	55	F>L		No	ClinGen gnomAD
rs1306493460 CA354532973	57	I>V		No	ClinGen gnomAD
rs1290146839 CA354532956	58	Q>R		No	ClinGen gnomAD
rs931578995 CA83517970	59	D>Y		No	ClinGen Ensembl
CA2614614 rs768013748	69	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA354532715 rs1252797992	77	R>K		No	ClinGen TOPMed
rs769578424 CA2614611	79	N>H		No	ClinGen ExAC TOPMed gnomAD
CA2614610 rs745650092	79	N>S		No	ClinGen ExAC gnomAD
CA2614608 rs757192893	80	S>F		No	ClinGen ExAC gnomAD
rs781187253 CA2614609	80	S>P		No	ClinGen ExAC
CA2614606 rs777796019	81	A>E		No	ClinGen ExAC gnomAD
rs746956944 CA2614607	81	A>T		No	ClinGen ExAC gnomAD
CA2614605 rs147025690	84	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
TCGA novel	85	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354532621 rs1183540245	85	L>V		No	ClinGen TOPMed gnomAD
CA83517909 rs779308946	86	P>L		No	ClinGen Ensembl
CA83517911 rs998173120	86	P>S		No	ClinGen TOPMed
COSM1038297 CA83517895 rs911577101	90	A>T	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs901262210 CA83517890	92	E>A		No	ClinGen TOPMed gnomAD
CA2614601 rs754181683	94	A>V		No	ClinGen ExAC gnomAD
rs1559832907 CA354532497	95	S>C		No	ClinGen Ensembl
rs1576466387 CA354532427	100	M>I		No	ClinGen Ensembl
rs766695827 CA2614600	100	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	102	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1220628 rs761134714 CA2614599	107	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs267599606 CA83517823	107	R>Q		No	ClinGen Ensembl
rs750850442 CA2614598	108	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	108	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2614597 rs768086579	109	N>S		No	ClinGen ExAC gnomAD
CA354532352 rs1372674166	110	L>P		No	ClinGen gnomAD
CA354532346 rs1233697053	111	Y>C		No	ClinGen TOPMed
rs1576466355 CA354532340	112	D>Y		No	ClinGen Ensembl
rs989745246 CA83517804	113	R>H		No	ClinGen TOPMed
CA354532330 rs989745246	113	R>L		No	ClinGen TOPMed
COSM581360 CA2614594 rs769553601	117	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1364115211 CA354532301	118	P>S		No	ClinGen gnomAD
CA2614593 rs759307412	120	L>F		No	ClinGen ExAC gnomAD
CA354532271 rs1420690384	122	N>S		No	ClinGen gnomAD
rs546686982 CA2614592	123	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770589257 CA2614591	124	E>K		No	ClinGen ExAC gnomAD
rs777513419 CA2614589	126	R>G		No	ClinGen ExAC TOPMed gnomAD
rs772051013 CA2614588	127	W>C		No	ClinGen ExAC gnomAD
rs748213363 CA2614587	129	A>T		No	ClinGen ExAC gnomAD
rs779014357 CA2614586	130	F>L		No	ClinGen ExAC gnomAD
CA2614585 rs755162686	131	Q>H		No	ClinGen ExAC gnomAD
CA354532206 rs1254365928	132	I>V		No	ClinGen TOPMed
CA2614584 rs754022289	133	L>V		No	ClinGen ExAC TOPMed gnomAD
rs188247063 CA2614583	134	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354532165 rs1301999575	138	Q>H		No	ClinGen gnomAD
rs750809084 CA2614581	139	A>V		No	ClinGen ExAC gnomAD
rs767909537 CA2614580	142	S>A		No	ClinGen ExAC gnomAD
rs1302768974 CA354532123	145	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA354532122 rs1477121242	145	R>H		No	ClinGen TOPMed
CA354532084 rs564555017	150	K>N		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	152	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354532062 rs1287666346	153	N>K		No	ClinGen TOPMed gnomAD
TCGA novel CA2614575 rs776096343	161	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1177518627 CA354531988	164	L>I		No	ClinGen gnomAD
TCGA novel	166	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA83517583 COSM479423 rs980676781	171	K>N	kidney [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1576466289 CA354531931	172	P>A		No	ClinGen Ensembl
CA354531927 rs1170393616	172	P>L		No	ClinGen TOPMed
TCGA novel	172	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	180	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1297346768 CA354531865	181	A>V		No	ClinGen TOPMed
CA2614571 rs141115484	184	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs111971757 CA83517533	190	S>P		No	ClinGen Ensembl
rs982200513 CA83517529 COSM3392055	191	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1219441853	193	R>missing	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2614568 rs768676699	196	Y>C		No	ClinGen ExAC gnomAD
rs750736111 CA2614564	202	F>L		No	ClinGen ExAC gnomAD
rs1467818021 CA354531717	203	V>F		No	ClinGen gnomAD
rs1308105554 CA354531702 COSM1728452	205	G>D	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs749495416 CA83517469	206	G>A		No	ClinGen Ensembl
CA2614562 rs757805162	207	M>V		No	ClinGen ExAC gnomAD
rs752070041 CA2614561	208	F>Y		No	ClinGen ExAC gnomAD
CA2614560 rs764718164	214	Y>H		No	ClinGen ExAC gnomAD
CA2614559 rs368074034	216	R>T		No	ClinGen ESP ExAC gnomAD
CA83517443 rs374577790	217	D>Y		No	ClinGen ESP TOPMed gnomAD
CA2614557 rs765942676	218	P>S		No	ClinGen ExAC TOPMed gnomAD
CA2614558 rs765942676	218	P>T		No	ClinGen ExAC TOPMed gnomAD
rs772852754 CA354531605	220	T>A		No	ClinGen ExAC gnomAD
CA354531602 rs1460063513	220	T>S		No	ClinGen gnomAD
rs772852754 CA2614555	220	T>S		No	ClinGen ExAC gnomAD
rs761620546 CA2614553	222	L>F		No	ClinGen ExAC gnomAD
rs151083729 CA2614552	223	V>L		No	ClinGen ESP ExAC gnomAD
rs755915922 CA2614551	226	N>S		No	ClinGen ExAC gnomAD
CA2614550 rs749319872	231	T>S		No	ClinGen ExAC TOPMed gnomAD
rs775692929 CA2614549	239	M>T		No	ClinGen ExAC gnomAD
CA354531476 rs1317823331	239	M>V		No	ClinGen TOPMed gnomAD
rs769889147 CA2614548	243	S>P		No	ClinGen ExAC gnomAD
CA83510679 rs929084566	246	C>G		No	ClinGen TOPMed
CA2614530 rs764001830	247	V>M		No	ClinGen ExAC gnomAD
CA2614529 rs763000799	251	L>H		No	ClinGen ExAC gnomAD
TCGA novel	252	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1308524506 CA354531367	253	T>K		No	ClinGen TOPMed
CA2614528 COSM1536420 rs775405232	255	G>D	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2614524 rs771284961	262	S>C		No	ClinGen ExAC TOPMed gnomAD
CA354531305 rs1471221680	263	Q>K		No	ClinGen gnomAD
TCGA novel	268	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354531265 rs1377659483	268	R>S		No	ClinGen TOPMed gnomAD
rs778341205 CA2614522	269	N>S		No	ClinGen ExAC gnomAD
TCGA novel	272	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3846214 rs55951445 VAR_040997 CA83510526	273	F>L	breast [Cosmic]	No	ClinGen cosmic curated UniProt TOPMed dbSNP
rs758799507 COSM3846214 CA2614521	273	F>L	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs974249257	275	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA83510524 rs896820380	276	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2614519 rs576741357	284	H>D		No	ClinGen 1000Genomes ExAC gnomAD
rs576741357 CA2614520	284	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1225938743 CA354531149	285	S>N		No	ClinGen gnomAD
rs755591570 CA2614518	285	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	288	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs916857634 CA83510476	288	E>G		No	ClinGen TOPMed
rs748473551 CA2614502	290	V>I		No	ClinGen ExAC TOPMed gnomAD
rs538273210 CA354531095	291	T>I		No	ClinGen 1000Genomes gnomAD
rs538273210 CA83509384	291	T>S		No	ClinGen 1000Genomes gnomAD
rs779408830 CA2614501	292	Q>H		No	ClinGen ExAC gnomAD
TCGA novel	292	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2614500 rs769107142	295	H>D		No	ClinGen ExAC TOPMed gnomAD
rs769107142 CA354531071	295	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs745365171 CA2614499	296	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2614498 COSM1038290 rs780726079	296	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA354531047 rs1174577935	298	P>L		No	ClinGen gnomAD
rs760046412 CA2614497	300	K>E		No	ClinGen ExAC TOPMed gnomAD
rs751177068 CA2614496	301	R>C		No	ClinGen ExAC gnomAD
rs777428344 CA2614495	301	R>H		No	ClinGen ExAC gnomAD
TCGA novel	303	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	305	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1004957843 CA83509329	309	K>T		No	ClinGen TOPMed
rs112769852 CA83509307	311	Q>R		No	ClinGen Ensembl
CA2614493 rs538560676	312	R>C		No	ClinGen ExAC TOPMed gnomAD
rs765218223 CA2614492	312	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1054026229 CA83509300	315	A>T		No	ClinGen TOPMed
CA2614491 rs759451064	316	F>L		No	ClinGen ExAC gnomAD
CA354530897 rs1318091426	320	F>L		No	ClinGen gnomAD
CA2614490 rs753945702	320	F>L		No	ClinGen ExAC gnomAD
rs766526932 CA2614489	322	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1212638853 CA354530876	323	F>L		No	ClinGen gnomAD
rs760859115 CA2614487	326	P>A		No	ClinGen ExAC gnomAD
CA83509277 rs900713369	326	P>L		No	ClinGen Ensembl
rs760859115 CA354530859	326	P>S		No	ClinGen ExAC gnomAD
rs773508536 CA2614486	327	Y>H		No	ClinGen ExAC gnomAD
rs555698397 CA83509232	328	M>V		No	ClinGen 1000Genomes
rs772185645 CA2614485	331	F>L		No	ClinGen ExAC gnomAD
rs368979986 CA2614484	333	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs534044558 CA2614483	333	K>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	334	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769180397 CA2614482	335	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1165435912 CA354530800	335	T>P		No	ClinGen TOPMed
CA354530787 rs1172779170	337	L>I		No	ClinGen gnomAD
CA354530777 rs1408616190	338	S>C		No	ClinGen gnomAD
CA354530776 rs1408616190	338	S>F		No	ClinGen gnomAD
rs1167741848 CA354530764	340	D>G		No	ClinGen TOPMed
rs146455524 CA2614479	342	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
VAR_040998 CA2614478 rs56295394	342	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA354530748 rs1182519382	343	I>V		No	ClinGen gnomAD
CA2614476 rs373321373	345	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA83509167 rs373321373	345	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1306726961 COSM204143 CA354530724	347	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs34797184 RCV000891241 VAR_040999 CA2614475	347	R>W		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA83509142 rs991348559	348	K>N		No	ClinGen TOPMed gnomAD
CA2614474 rs778622731	351	G>D		No	ClinGen ExAC gnomAD
CA83509104 rs914264865	352	N>S		No	ClinGen Ensembl
CA83509099 rs958592238	354	I>V		No	ClinGen TOPMed gnomAD
rs369624286 CA2614471	355	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA354530668 rs1300149486	356	N>D		No	ClinGen gnomAD
rs981099827 CA83509091	356	N>S		No	ClinGen TOPMed gnomAD
CA2614469 rs756195199	358	C>Y		No	ClinGen ExAC gnomAD
CA83509046 rs371832458	360	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2614468 rs371832458	360	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA354530639 rs371832458	360	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1559830430 CA354530626	362	L>R		No	ClinGen Ensembl
CA2614467 rs767763493	365	K>E		No	ClinGen ExAC TOPMed gnomAD
CA354530596 rs139640851	367	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2614465 COSM204142 rs139640851	367	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1409469837 CA354530586	368	G>E		No	ClinGen gnomAD
CA2614464 rs764330598	369	E>Q		No	ClinGen ExAC gnomAD
rs1365887073 CA354530572	370	P>R		No	ClinGen Ensembl
TCGA novel	371	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354530559 rs1419560275	372	E>A		No	ClinGen gnomAD
rs775921295 CA2614462	373	N>I		No	ClinGen ExAC TOPMed gnomAD
rs1224515616 CA354530541	375	L>M		No	ClinGen gnomAD
TCGA novel	376	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354530515 rs1429832825	379	V>L		No	ClinGen TOPMed
rs770292226 CA2614460	381	V>I		No	ClinGen ExAC gnomAD
CA354530483 rs1172568629	384	S>Y		No	ClinGen TOPMed
TCGA novel	387	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA83508974 VAR_041000 rs34663155	388	T>I		No	ClinGen UniProt TOPMed dbSNP
CA354530431 rs1372959621	392	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs34633532 VAR_041001 CA83508948	393	D>N		No	ClinGen UniProt TOPMed dbSNP
rs1014864680 CA83508945	395	K>R		No	ClinGen TOPMed
CA354530399 rs1284147605	397	A>S		No	ClinGen gnomAD
rs1407188173 CA354530394	397	A>V		No	ClinGen gnomAD
CA354530386 rs1392554257	399	L>V		No	ClinGen Ensembl
CA2614452 rs780134099	403	L>F		No	ClinGen ExAC TOPMed gnomAD
CA354530350 rs1429610424	404	H>L		No	ClinGen gnomAD
rs1302887841 CA354530328	408	R>G		No	ClinGen TOPMed
rs1343174551 CA354530318	409	L>S		No	ClinGen TOPMed
rs1202437823 CA354530314	410	S>G		No	ClinGen TOPMed
CA354530295 rs1205662533	412	E>A		No	ClinGen gnomAD
CA2614449 rs767530523	417	R>C		No	ClinGen ExAC gnomAD
rs767530523 CA354530263	417	R>G		No	ClinGen ExAC gnomAD
rs757385067 CA2614448	417	R>H		No	ClinGen ExAC TOPMed gnomAD
rs767530523 CA354530264	417	R>S		No	ClinGen ExAC gnomAD
rs1446843122 CA354530259	418	I>V		No	ClinGen TOPMed
rs751687485 CA354530237	421	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2614447 rs751687485	421	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA2614446 rs764393929	422	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2614445 rs763238954	423	L>S		No	ClinGen ExAC gnomAD
CA354530223 rs1344037068	424	H>N		No	ClinGen gnomAD
rs368715993 CA83508905	427	N>S		No	ClinGen ESP TOPMed gnomAD
CA354530190 rs1226649092	428	D>Y		No	ClinGen gnomAD
CA2614444 rs376618367	429	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs150553477 CA2614443	429	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2614442 rs760087353	430	V>F		No	ClinGen ExAC gnomAD
rs771443538 CA2614440	433	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2614439 rs747705645	434	R>K		No	ClinGen ExAC gnomAD
rs1428344580 CA354530153	434	R>S		No	ClinGen gnomAD
rs1193718255 CA354530149	435	A>S		No	ClinGen gnomAD
CA2614438 rs773807560	436	E>K		No	ClinGen ExAC gnomAD
rs1172864100 CA354530136	437	A>S		No	ClinGen TOPMed
CA354530130 rs1259634456	438	L>S		No	ClinGen gnomAD
rs768180675 CA2614437	440	T>M		No	ClinGen ExAC TOPMed gnomAD
rs900660826 CA83508853	443	K>T		No	ClinGen TOPMed
rs780041308 CA2614435	446	A>G		No	ClinGen ExAC gnomAD
rs141740732 RCV000949492 CA2614433	448	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs781215042 CA2614432	449	K>R		No	ClinGen ExAC TOPMed gnomAD
rs138348833 CA2614430	450	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1036392974 CA83508845	450	E>K		No	ClinGen TOPMed gnomAD
CA2614428 rs777969674	453	R>H		No	ClinGen ExAC TOPMed gnomAD
rs758679173 CA2614427	456	I>S		No	ClinGen ExAC gnomAD
rs1168115556 CA354530012	457	N>D		No	ClinGen gnomAD
CA354530009 rs1463369470	457	N>S		No	ClinGen gnomAD
CA2614426 rs147061597	460	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1371079929 CA354529988	460	P>S		No	ClinGen gnomAD
rs1445094808 CA354529946	466	G>V		No	ClinGen gnomAD
rs367673907 CA2614425	467	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354529931 rs1255780810	469	H>P		No	ClinGen gnomAD
CA2614422 rs201674048	469	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs754240206 CA2614423	469	H>Y		No	ClinGen ExAC gnomAD
CA354529922 rs1452903821 COSM1536421	470	L>F	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA354529926 rs1481838308	470	L>V		No	ClinGen gnomAD
rs143152253 CA2614421	471	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs768398786 CA2614419	473	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2614418 rs762731671	475	A>V		No	ClinGen ExAC TOPMed gnomAD
rs533634631 CA2614416	476	T>S		No	ClinGen 1000Genomes ExAC gnomAD
COSM1616899 CA83508691 rs560186214	477	I>V	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes
rs370565856 CA2614415	478	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1460836331 CA354529849	482	Y>C		No	ClinGen TOPMed
rs775229316 CA2614399	486	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1053353245 CA83506463	488	L>V		No	ClinGen TOPMed
TCGA novel	493	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs987940272 CA83506441	495	R>K		No	ClinGen Ensembl
rs183399732 CA2614397	495	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354529748 rs1287295811	496	F>L		No	ClinGen gnomAD
rs1367157995 CA354529725	500	V>L		No	ClinGen gnomAD
CA83506406 rs904544417	501	Q>K		No	ClinGen TOPMed
rs1262790495 CA354529704	503	K>Q		No	ClinGen TOPMed
COSM204139 rs770752743 CA2614395	503	K>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	505	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1239502231 CA354529671	507	M>I		No	ClinGen Ensembl
rs772091076 CA2614392	510	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1576462358 CA354529650	510	D>Y		No	ClinGen Ensembl
rs1157708048 CA354529643	511	P>S		No	ClinGen TOPMed
CA2614391 rs748229852	512	N>S		No	ClinGen ExAC gnomAD
rs755284369 CA2614389	516	I>T		No	ClinGen ExAC gnomAD
rs1325927326 CA354529597	517	D>V		No	ClinGen gnomAD
CA2614388 rs749592519	518	E>D		No	ClinGen ExAC gnomAD
CA354529583 rs1197896750	519	V>A		No	ClinGen gnomAD
CA83506328 rs960748597	521	H>Y		No	ClinGen Ensembl
CA2614387 rs780504898	522	P>S		No	ClinGen ExAC gnomAD
CA83506317 rs921353305	523	N>D		No	ClinGen TOPMed gnomAD
rs1559829267 CA354529503	529	E>D		No	ClinGen Ensembl
rs757899411 CA2614346	530	L>H		No	ClinGen ExAC
CA2614344 rs764843961	532	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1237163323 CA354529475	534	H>Y		No	ClinGen gnomAD
CA354529466 rs1332396936	535	E>A		No	ClinGen gnomAD
CA83504959 rs1043376758	540	K>R		No	ClinGen TOPMed gnomAD
CA83504942 rs888323783	546	S>N		No	ClinGen TOPMed gnomAD
rs1390100693 CA354529370	549	E>*		No	ClinGen gnomAD
CA83504931 rs1049641941	549	E>G		No	ClinGen TOPMed gnomAD
rs765962740 CA2614341	550	N>T		No	ClinGen ExAC
rs145414942 CA2614340	551	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1208942745 CA354529335	554	Q>P		No	ClinGen gnomAD
CA354529321 rs1559829236	556	L>S		No	ClinGen Ensembl
rs932647299 CA83504901	561	I>M		No	ClinGen Ensembl
rs1428683877 CA354529277	562	T>K		No	ClinGen TOPMed
rs1212582246 CA354529273	563	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2614338 rs373790092	563	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA354529241 rs1360068561	568	F>V		No	ClinGen TOPMed
CA83504876 rs74759288	569	G>*		No	ClinGen Ensembl
CA2614335 COSM1419022 rs768728563	570	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1385027658 CA354529219	571	Q>H		No	ClinGen gnomAD
TCGA novel	573	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2614334 rs775711480	574	N>K		No	ClinGen ExAC gnomAD
CA83504842 rs901209691	574	N>S		No	ClinGen TOPMed gnomAD
CA354529195 rs1355481828	575	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA354529172 rs1370538438	578	L>W		No	ClinGen gnomAD
CA354529159 rs1164744259	580	H>R		No	ClinGen gnomAD
rs1410929034 CA354529142	582	I>T		No	ClinGen gnomAD
CA354529100 rs1180939220	588	K>R		No	ClinGen gnomAD
rs1470346077 CA354529084	590	D>G		No	ClinGen gnomAD
CA354529061 rs1234240963	593	L>Q		No	ClinGen TOPMed gnomAD
rs781725530 CA2614330	594	R>C		No	ClinGen ExAC gnomAD
CA354529056 COSM314159 rs1292445881	594	R>H	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
TCGA novel	598	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	599	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342281315 CA354529008	601	I>V		No	ClinGen TOPMed
rs1320842072 CA354528981	603	G>D		No	ClinGen TOPMed
rs1430863654 CA354528956	607	Y>C		No	ClinGen gnomAD
CA2614309 rs771373158	610	W>R		No	ClinGen ExAC gnomAD
CA83501061 rs898765799	612	S>G		No	ClinGen gnomAD
TCGA novel	613	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200974854 CA2614306	615	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200974854 CA2614307	615	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA354528879 rs1251237319	619	L>V		No	ClinGen TOPMed
rs941696499 CA83501018	623	G>R		No	ClinGen Ensembl
rs1182837030 CA354528839	625	S>T		No	ClinGen gnomAD
CA2614305 rs748807652	628	E>D		No	ClinGen ExAC gnomAD
rs1486248209 CA354528821	628	E>K		No	ClinGen gnomAD
CA354528788 rs1251530858	632	I>T		No	ClinGen TOPMed
rs1423533080 CA354528783	633	V>G		No	ClinGen TOPMed
rs888840399 CA83500968	633	V>L		No	ClinGen Ensembl
rs1263963846 CA354528769	635	A>V		No	ClinGen gnomAD
CA83500962 rs895834428	636	L>I		No	ClinGen TOPMed
rs1235938192 CA354528750	638	A>D		No	ClinGen TOPMed gnomAD
rs1235938192 CA354528748	638	A>V		No	ClinGen TOPMed gnomAD
CA354528731 rs1425897991	641	C>S		No	ClinGen TOPMed
rs750026228 CA2614302	642	M>I		No	ClinGen ExAC gnomAD
CA354528722 rs1368121156	642	M>K		No	ClinGen TOPMed
TCGA novel	643	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780832466 CA2614301	644	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA2614296 rs752794583	651	P>L		No	ClinGen ExAC gnomAD
rs758319060 CA2614297	651	P>S		No	ClinGen ExAC gnomAD
CA354528656 rs1376810875	652	H>Q		No	ClinGen gnomAD
CA83500917 rs923126258	652	H>Y		No	ClinGen gnomAD
rs935210574 CA83500893	655	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs528445902 CA2614294	658	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA83500888 rs925193919	658	S>I		No	ClinGen Ensembl
rs564110928 CA2614293	659	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs969828844 CA83500866	660	I>T		No	ClinGen TOPMed
CA2614271 rs147065831	661	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83496734 rs147065831	661	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83496723 rs996475183	662	P>A		No	ClinGen TOPMed
rs369407429 CA2614267	664	L>P		No	ClinGen ESP ExAC gnomAD
CA83496693 rs925685628	667	P>L		No	ClinGen Ensembl
CA354528541 rs1306023370	668	N>S		No	ClinGen gnomAD
CA354528529 rs1205017896	670	W>R		No	ClinGen gnomAD
CA354528515 rs1359554902	671	I>M		No	ClinGen TOPMed gnomAD
CA2614265 rs375991665	672	R>C	Variant assessed as Somatic; 0.0002773 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2614264 rs770589427	672	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA354528511 rs770589427	672	R>L		No	ClinGen ExAC TOPMed gnomAD
CA354528512 rs770589427	672	R>P		No	ClinGen ExAC TOPMed gnomAD
CA354528499 rs1262441528	674	G>D		No	ClinGen TOPMed
CA354528496 rs1559826724	675	A>T		No	ClinGen Ensembl
COSM1220629 CA2614262 rs777507921	676	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs758071728 CA83496662	677	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2614261 rs758071728	677	G>V		No	ClinGen ExAC TOPMed gnomAD
rs747961155 CA2614260	681	V>M		No	ClinGen ExAC gnomAD
rs778991522 CA2614259	683	A>P		No	ClinGen ExAC TOPMed gnomAD
rs1049177487 CA83496632	683	A>V		No	ClinGen TOPMed gnomAD
CA2614257 rs753937041	684	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2614256 rs779956493	684	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	685	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750553172 CA2614254	686	I>T		No	ClinGen ExAC gnomAD
CA2614253 rs767781492	688	T>I		No	ClinGen ExAC gnomAD
rs1455755782 CA354528414	689	A>T		No	ClinGen TOPMed
rs762075378 CA2614252	690	D>E		No	ClinGen ExAC gnomAD
rs764560178 CA2614250	692	Y>C		No	ClinGen ExAC gnomAD
CA354528356 rs1207605242	697	P>S		No	ClinGen TOPMed gnomAD
rs1354989111 CA354528348	698	Y>C		No	ClinGen gnomAD
rs369070434 CA2614248	699	L>H		No	ClinGen ESP ExAC gnomAD
RCV000958907 CA2614249 VAR_041002 rs56369596	699	L>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs770302817 CA2614247	702	Y>C		No	ClinGen ExAC gnomAD
rs1287558740 CA354528311	704	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA354528307 rs1405312635	704	T>I		No	ClinGen gnomAD
rs1438133990 CA354528303	705	Q>P		No	ClinGen TOPMed
CA83496539 rs373670198	706	P>S		No	ClinGen ESP
CA2614226 rs772837630	710	I>M		No	ClinGen ExAC gnomAD
rs760099418 CA2614227	710	I>S		No	ClinGen ExAC TOPMed gnomAD
rs139232671 CA2614228	710	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1340056056 CA546240358	711	E>N		No	ClinGen gnomAD
rs1363073573 CA354528228	714	L>P		No	ClinGen gnomAD
rs771603091 CA2614225	717	L>R		No	ClinGen ExAC gnomAD
CA354528198 rs1361109329	719	V>A		No	ClinGen gnomAD
rs1328091378 CA354528177	722	E>G		No	ClinGen gnomAD
rs749098700 CA2614221	723	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1170984842 CA354528157	725	S>N		No	ClinGen gnomAD
rs779846548 CA2614220	726	R>C		No	ClinGen ExAC TOPMed gnomAD
rs779846548 CA354528153	726	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1388953789 CA354528152	726	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2614218 rs745910702	728	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs769823331 CA2614219	728	I>V		No	ClinGen ExAC gnomAD
rs1553728962 CA354528131	729	F>L		No	ClinGen Ensembl
CA2614217 rs781371007	730	D>V		No	ClinGen ExAC gnomAD
rs1276730585 CA354528118	731	Y>F		No	ClinGen gnomAD
CA2614215 rs747187707	735	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1559826219 CA354528079	737	D>G		No	ClinGen Ensembl
rs758699611 CA2614213	738	I>T		No	ClinGen ExAC gnomAD
rs375041471 CA2614214	738	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs753172888 CA2614212	740	S>G		No	ClinGen ExAC gnomAD
CA2614211 rs765650745	743	R>T		No	ClinGen ExAC gnomAD
TCGA novel	745	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA83495093 rs924649877	746	H>Y		No	ClinGen TOPMed gnomAD
CA83495074 CA2614209 rs754331921	747	M>I		No	ClinGen ExAC TOPMed gnomAD
CA354528011 rs1428310865	747	M>T		No	ClinGen TOPMed gnomAD
CA2614210 rs755559646	747	M>V		No	ClinGen ExAC gnomAD
CA354528007 rs962962443	748	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM1130343 rs767086065 CA2614207	748	R>H	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA83495071 rs962962443	748	R>S		No	ClinGen TOPMed
rs774080288 CA2614204	752	R>L		No	ClinGen ExAC TOPMed gnomAD
rs774080288 CA2614205	752	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2614203 rs763902518	755	S>F		No	ClinGen ExAC gnomAD
CA2614202 rs762824567	757	P>S		No	ClinGen ExAC gnomAD
CA354527944 rs1576458418	758	D>A		No	ClinGen Ensembl
CA2614200 rs769585782	758	D>N		No	ClinGen ExAC TOPMed gnomAD
CA354527936 rs1576458416	759	C>S		No	ClinGen Ensembl
CA354527928 rs1346891767	760	P>L		No	ClinGen TOPMed gnomAD
rs745780599 CA2614199	760	P>S		No	ClinGen ExAC gnomAD
rs147331212 CA2614197	761	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2614198 rs776459327	761	P>S		No	ClinGen ExAC gnomAD
rs965941646 CA83495012	762	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1330250283 CA354527898	765	P>L		No	ClinGen gnomAD
rs551957514 CA83495007	765	P>S		No	ClinGen Ensembl
TCGA novel	765	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1290672346 CA354527897	766	A>T		No	ClinGen gnomAD
TCGA novel	766	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758678964 CA2614194	767	I>V		No	ClinGen ExAC TOPMed gnomAD
CA83494988 rs374748187	770	L>F		No	ClinGen ESP TOPMed
TCGA novel	776	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1031261707 CA83494959	776	S>A		No	ClinGen Ensembl
CA354525908 rs1435158272	778	G>A		No	ClinGen gnomAD
rs773330168 CA2614177	783	E>D		No	ClinGen ExAC gnomAD
rs1243165562 CA354525869	784	E>K		No	ClinGen gnomAD
CA2614176 rs772252519	785	D>G		No	ClinGen ExAC gnomAD
rs1359465095 CA354525833	789	A>S		No	ClinGen gnomAD
TCGA novel	789	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768998132 CA2614173	792	D>G		No	ClinGen ExAC gnomAD
CA2614172 rs749682363	793	F>C		No	ClinGen ExAC gnomAD
TCGA novel	793	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354525797 rs756730742 CA2614170	794	M>I		No	ClinGen ExAC gnomAD
rs371460087 CA2614171	794	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1250172307 CA354525794	795	M>V		No	ClinGen gnomAD
CA2614169 rs751078817	798	N>Y		No	ClinGen ExAC gnomAD
TCGA novel	801	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752338959 CA2614166	804	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1267483001 CA354525723	805	V>M		No	ClinGen Ensembl
CA354525700 rs1559824487	808	S>G		No	ClinGen Ensembl
CA2614163 rs753690503	809	H>L		No	ClinGen ExAC gnomAD
rs376882110 CA2614164	809	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1321884824 CA354525679	811	H>Y		No	ClinGen gnomAD
CA354525666 rs1559824480	812	D>E		No	ClinGen Ensembl
CA354525656 rs1402467133	814	S>G		No	ClinGen TOPMed gnomAD
CA2614160 rs773166247	814	S>R		No	ClinGen ExAC TOPMed gnomAD
CA2614161 rs760647540	814	S>T		No	ClinGen ExAC
rs937929528 CA83539909	818	V>A		No	ClinGen Ensembl
rs772130832 CA2614159	818	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1169104553 CA354525625	819	I>L		No	ClinGen gnomAD
CA354525601 rs1186917548	822	A>G		No	ClinGen TOPMed gnomAD
CA2614156 rs768818836	822	A>P		No	ClinGen ExAC gnomAD
CA354525585 rs1428198624	825	G>R		No	ClinGen gnomAD
TCGA novel	826	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1333899521 CA354525569	827	T>S		No	ClinGen TOPMed
CA354525541 rs1257093997	831	V>A		No	ClinGen gnomAD
CA354525537 rs1184001302	832	D>Y		No	ClinGen gnomAD
CA2614155 rs749637717	833	L>V		No	ClinGen ExAC gnomAD
COSM107983 CA2614153 rs151220675	834	V>F	lung Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1267180176 CA354525520	835	K>E		No	ClinGen TOPMed
CA354525507 rs1434234322	837	K>Q		No	ClinGen gnomAD
CA354525481 rs1271945083	840	P>S		No	ClinGen gnomAD
rs1340750563 CA354525475	841	D>Y		No	ClinGen gnomAD
rs940066909 CA83539869	842	D>E		No	ClinGen TOPMed gnomAD
rs908662999 CA83539864	843	K>N		No	ClinGen TOPMed gnomAD
CA2614149 rs752219670	844	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA354525454 rs757861606	844	R>W		No	ClinGen ExAC gnomAD
rs769654390 CA2614131	845	A>D		No	ClinGen ExAC TOPMed gnomAD
rs185118493 CA2614130	846	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1160437681 CA354525055	853	S>L		No	ClinGen gnomAD
CA2614129 rs747675546	854	N>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	859	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194942639 CA354524980	859	W>G		No	ClinGen gnomAD
TCGA novel	860	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354524906 rs1351460583	864	G>R		No	ClinGen TOPMed
TCGA novel	869	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354524829 rs1209355749	870	N>Y		No	ClinGen TOPMed
CA2614126 COSM1038283 rs748893803	871	M>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1268758487 CA354524809	871	M>T		No	ClinGen TOPMed gnomAD
rs377304214 CA2614127	871	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs755896196 CA2614125	874	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2614124 rs755896196	874	A>T		No	ClinGen ExAC TOPMed gnomAD
CA354524762 rs1268333585	875	L>V		No	ClinGen gnomAD
rs750272389 CA2614123	876	P>L		No	ClinGen ExAC gnomAD
CA83539127 rs936286192	877	K>N		No	ClinGen Ensembl
CA354524728 rs1559824139	878	G>R		No	ClinGen Ensembl
rs767462922 CA2614122	881	Q>E		No	ClinGen ExAC gnomAD
CA354524636 rs1278900651	884	I>M		No	ClinGen gnomAD
CA83539104 rs774039477	885	Q>H		No	ClinGen Ensembl
rs1471832975 CA354524565	889	P>L		No	ClinGen TOPMed
CA83539101 rs570946963	889	P>S		No	ClinGen Ensembl
CA2614120 rs751545712	890	P>L		No	ClinGen ExAC gnomAD
COSM3944851 CA2614121 rs267599605	890	P>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs764029897 CA2614119	891	R>C		No	ClinGen ExAC TOPMed gnomAD
rs867928706 CA83539090	891	R>H		No	ClinGen gnomAD
CA83539086 rs142194036 COSM107459	892	S>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1459177317 CA354524519	893	E>G		No	ClinGen TOPMed gnomAD
rs181074945 CA2614116	893	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2614115 rs765623207	894	S>F		No	ClinGen ExAC TOPMed gnomAD
rs957655861 CA83539069	895	S>F		No	ClinGen TOPMed gnomAD
rs1368423361	895	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs970480922 CA83539065	896	A>T		No	ClinGen TOPMed gnomAD
rs1196176576 CA354524458	898	I>N		No	ClinGen gnomAD
CA2614114 rs759967713	898	I>V		No	ClinGen ExAC gnomAD
TCGA novel	901	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776909234 CA2614113	901	P>S		No	ClinGen ExAC gnomAD
rs747437277 CA2614111	902	L>F		No	ClinGen ExAC gnomAD
CA354524408 rs375768741	902	L>S		No	ClinGen ESP ExAC TOPMed
rs375768741 CA2614112	902	L>W		No	ClinGen ESP ExAC TOPMed
rs1576455717 CA354524399	903	S>L		No	ClinGen Ensembl
rs142070299 CA2614110	904	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs142070299 CA2614109	904	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1363821791 CA354524242	908	V>F		No	ClinGen TOPMed
rs368852181 CA83538241	909	P>R		No	ClinGen ESP TOPMed
rs773586359 CA2614093	913	T>A		No	ClinGen ExAC gnomAD
rs1275532508 CA354524178	913	T>S		No	ClinGen TOPMed gnomAD
CA2614091 rs201528168	919	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA2614092 rs201528168	919	P>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	919	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1230686020 CA354524097	919	P>T	Variant assessed as Somatic; 4.628e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2614090 rs775017375	920	V>I		No	ClinGen ExAC gnomAD
COSM3846210 CA354524076 rs1449240611	921	I>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1342573426 CA354524057	922	P>L		No	ClinGen TOPMed gnomAD
rs780909776 CA2614087	926	S>T		No	ClinGen ExAC gnomAD
CA2614085 rs148680337	928	I>V		No	ClinGen ESP ExAC gnomAD
CA2614084 rs777841627	930	P>L		No	ClinGen ExAC gnomAD
CA2614083 rs758459976	932	T>I		No	ClinGen ExAC TOPMed gnomAD
CA354523923 rs1473663632	933	Y>C		No	ClinGen TOPMed gnomAD
rs1473663632 CA354523921	933	Y>F		No	ClinGen TOPMed gnomAD
rs374459272 CA2614082	934	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1186957249 CA354523899	935	I>F		No	ClinGen TOPMed gnomAD
rs779099985 CA2614081	935	I>M		No	ClinGen ExAC gnomAD
CA2614080 rs755134926	936	R>*		No	ClinGen ExAC gnomAD
CA354523885 rs181132426	936	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181132426 COSM33323 CA2614079 VAR_035632	936	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine breast a breast cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt]	No	ClinGen cosmic curated UniProt 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs766630948 CA2614078	938	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2614077 rs760932000	939	T>A		No	ClinGen ExAC gnomAD
CA354523842 rs1233815213	940	C>Y		No	ClinGen gnomAD
rs750845828 CA2614076	942	T>A		No	ClinGen ExAC TOPMed gnomAD
CA354523776 rs1291884802	945	Q>E		No	ClinGen gnomAD
CA354523778 rs1291884802	945	Q>K		No	ClinGen gnomAD
rs762267072 CA2614074	946	Q>H		No	ClinGen ExAC gnomAD
rs1251919284 CA354523743	947	L>F		No	ClinGen TOPMed
CA2614072 rs769234810	948	I>L		No	ClinGen ExAC gnomAD
rs1310349122 CA354523722	948	I>M		No	ClinGen TOPMed gnomAD
CA2614073 rs769234810	948	I>V		No	ClinGen ExAC gnomAD
CA2614070 rs374748468	952	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2614069 rs374748468	952	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs370277946 CA2614071	952	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1323815774 CA354523660	953	E>G		No	ClinGen gnomAD
rs746758695 CA2614068	954	Q>E		No	ClinGen ExAC gnomAD
CA354523642 rs777751663	954	Q>H		No	ClinGen ExAC gnomAD
CA83538106 rs892570259	955	C>W		No	ClinGen TOPMed
CA2614065 rs748053061	956	N>D		No	ClinGen ExAC gnomAD
rs748053061 CA2614066	956	N>H		No	ClinGen ExAC gnomAD
CA2614064 rs779009961	956	N>S		No	ClinGen ExAC gnomAD
CA354523580 rs1167603370	958	E>G		No	ClinGen TOPMed
rs754948503 CA2614063	959	R>K		No	ClinGen ExAC gnomAD
TCGA novel	961	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	962	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354523546 rs1479699560	963	Q>K		No	ClinGen gnomAD
rs1031051712 CA83538075	964	M>V		No	ClinGen TOPMed gnomAD
CA83538067 rs1000705837	965	M>T		No	ClinGen TOPMed
CA2614062 rs754004712	966	E>K		No	ClinGen ExAC TOPMed gnomAD
rs903678661 CA83538058	969	E>G		No	ClinGen TOPMed
rs1470031366 CA354523478	972	S>G		No	ClinGen gnomAD
CA354523462 rs1271473094	974	P>A		No	ClinGen gnomAD
CA2614060 rs534497688	975	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1330185240 CA354523453	975	P>L		No	ClinGen gnomAD
CA2614059 rs750671593	976	P>L		No	ClinGen ExAC gnomAD
rs767821282 CA2614058	977	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2614036 rs764488338	979	W>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs559954378 CA2614035	980	R>C		No	ClinGen ExAC gnomAD
rs370652312 CA2614034	980	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1471499137 CA354523405	982	K>E		No	ClinGen TOPMed gnomAD
rs934280107 CA83536832	985	L>I		No	ClinGen Ensembl
rs772935620 CA2614031	989	L>F		No	ClinGen ExAC gnomAD
rs767348017 CA2614030	990	H>R		No	ClinGen ExAC gnomAD
CA354523334 rs1259299977	992	H>Q		No	ClinGen gnomAD
CA83536790 rs201167743	993	K>E		No	ClinGen gnomAD
CA2614029 rs761675289	994	S>C		No	ClinGen ExAC TOPMed gnomAD
rs771940542 CA83536768	996	V>M		No	ClinGen Ensembl
rs768363132 CA2614027	998	R>G		No	ClinGen ExAC gnomAD
CA2614026 rs377513454	998	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2614025 rs377513454	998	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2614024 rs769845457	1000	R>T		No	ClinGen ExAC TOPMed gnomAD
CA2614022 rs781377774	1002	S>F		No	ClinGen ExAC TOPMed gnomAD
CA2614023 rs746011721	1002	S>P		No	ClinGen ExAC gnomAD
rs757525023 CA2614021	1003	D>A		No	ClinGen ExAC gnomAD
rs757525023 CA354523274	1003	D>G		No	ClinGen ExAC gnomAD
CA354523266 rs1379553069	1004	E>G		No	ClinGen gnomAD
rs747345985 CA2614020	1005	H>Q		No	ClinGen ExAC gnomAD
CA2614019 rs778159244	1006	S>L		No	ClinGen ExAC TOPMed gnomAD
CA83536708 rs944702599	1007	L>F		No	ClinGen TOPMed
rs1374761354 CA354523245	1008	F>L		No	ClinGen gnomAD
rs758713279 CA2614018	1009	A>T		No	ClinGen ExAC gnomAD
rs746053652 CA2614017	1011	C>G		No	ClinGen ExAC TOPMed gnomAD
rs746053652 CA83536702	1011	C>S		No	ClinGen ExAC TOPMed gnomAD
rs765671188 CA2614016	1019	I>T		No	ClinGen ExAC
rs1375038299 CA354523171	1019	I>V		No	ClinGen gnomAD
CA2614015 rs755682895	1020	W>R		No	ClinGen ExAC gnomAD
rs542864841 CA2614014	1021	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA83536679 rs199514449	1024	K>R		No	ClinGen 1000Genomes
CA2614011 rs76558811 RCV000893450	1025	M>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs76558811 CA2614012	1025	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763891655 CA2614010	1026	E>G		No	ClinGen ExAC gnomAD
rs1330126393 CA354522918	1029	T>N		No	ClinGen gnomAD
CA2614007 rs769676078	1030	T>I		No	ClinGen ExAC gnomAD
CA354522898 rs1249274204	1033	R>G		No	ClinGen gnomAD
CA354521969 rs1396024076	1034	S>C		No	ClinGen TOPMed gnomAD
CA2613990 rs147350320	1035	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA83527808 rs779979292	1035	I>S		No	ClinGen Ensembl
RCV000915859 CA2613989 rs147350320	1035	I>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759431388 CA354521899	1039	S>R		No	ClinGen ExAC TOPMed gnomAD
CA2613987 rs776572857	1040	R>G		No	ClinGen ExAC gnomAD
CA2613986 rs770940364	1040	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760751940 CA2613985	1042	G>E		No	ClinGen ExAC gnomAD
CA2613984 VAR_041003 rs56160735	1043	G>V		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA2613983 rs772242905	1044	R>*		No	ClinGen ExAC gnomAD
rs748527435 CA2613982	1044	R>Q		No	ClinGen ExAC gnomAD
rs779104744 CA354521829	1045	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2613981 rs779104744	1045	V>G		No	ClinGen ExAC TOPMed gnomAD
rs769162853 CA2613980	1046	K>T		No	ClinGen ExAC TOPMed gnomAD
CA2613979 rs749751291	1047	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756822733 CA354521815	1048	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2613977 rs756822733	1048	L>V		No	ClinGen ExAC TOPMed gnomAD
rs777458805 CA2613976	1052	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1453699088 CA354521778	1053	G>A		No	ClinGen TOPMed
rs1260031379 CA354521774	1054	S>A		No	ClinGen gnomAD
rs143085620 CA2613974	1055	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA354521767 rs143085620	1055	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1251535002 CA354521759	1056	Y>C		No	ClinGen TOPMed
rs1439067672 CA354521748	1058	A>T		No	ClinGen gnomAD
rs200778585 CA83527607	1059	I>T		No	ClinGen Ensembl
rs1370511551 CA354521711	1063	N>I		No	ClinGen gnomAD
rs1402774861 CA354521695	1066	V>I		No	ClinGen gnomAD
rs1184938041 CA354521688	1067	Q>*		No	ClinGen TOPMed
TCGA novel	1073	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1041577082 CA83527562	1075	K>T		No	ClinGen TOPMed
CA354521619 rs1396294478	1078	K>Q		No	ClinGen gnomAD
CA354521545 rs1453468522	1083	H>R		No	ClinGen gnomAD
TCGA novel	1088	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2613947 rs761954261	1090	L>P		No	ClinGen ExAC gnomAD
CA354520819 rs1255282293	1091	D>E		No	ClinGen gnomAD
rs1486640238 CA354520825	1091	D>H		No	ClinGen gnomAD
rs550088773 CA2613946	1092	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
rs763574793 CA83524039	1093	K>E		No	ClinGen Ensembl
CA83524036 rs368346956	1094	E>D		No	ClinGen ESP TOPMed
rs1485359228 CA354520790	1094	E>K		No	ClinGen gnomAD
rs1273993229 CA354520777	1095	D>N		No	ClinGen gnomAD
CA2613942 rs763387197	1096	G>D		No	ClinGen ExAC TOPMed gnomAD
rs764466838 CA2613943	1096	G>S		No	ClinGen ExAC gnomAD
rs1267512832 CA354520737	1097	C>R		No	ClinGen gnomAD
CA2613940 rs770227577	1100	D>N		No	ClinGen ExAC gnomAD
CA354520653 rs1207074254	1101	M>V		No	ClinGen TOPMed gnomAD
rs746312831 CA2613939	1104	F>S		No	ClinGen ExAC gnomAD
CA354520579 rs375568050	1105	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA354520583 rs375568050	1105	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs375568050 CA2613938	1105	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1106	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA83523995 rs965092508	1109	Q>E		No	ClinGen Ensembl
CA2613936 rs771418807	1109	Q>R		No	ClinGen ExAC gnomAD
rs1267268461 CA354520510	1111	V>D		No	ClinGen TOPMed
rs775335797 CA83523956	1111	V>F		No	ClinGen TOPMed gnomAD
rs775335797 CA83523971	1111	V>I		No	ClinGen TOPMed gnomAD
CA354520497 rs1165432584	1113	A>G		No	ClinGen gnomAD
CA83523913 rs1009423500	1114	Y>*		No	ClinGen TOPMed
rs372167716 CA2613933	1114	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2613931 rs768351225	1115	A>G		No	ClinGen ExAC TOPMed gnomAD
CA354520488 rs1187051125	1115	A>T		No	ClinGen gnomAD
rs367814639 CA2613929	1121	L>V		No	ClinGen ESP ExAC gnomAD
CA83523878 rs150183567	1122	V>L		No	ClinGen ESP TOPMed gnomAD
rs1214744667 CA354520386	1123	G>A		No	ClinGen gnomAD
TCGA novel	1123	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266474484 CA354520345	1126	L>I		No	ClinGen gnomAD
rs1244482516 CA354520314	1128	S>F		No	ClinGen gnomAD
rs966840857 CA83523856	1128	S>T		No	ClinGen Ensembl
rs1233273668 CA354520306	1129	S>*		No	ClinGen gnomAD
rs750259250 CA2613927	1130	S>G		No	ClinGen ExAC gnomAD
TCGA novel	1130	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2613926 rs114311323	1131	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs114311323 CA354520278	1131	N>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs560895450 CA2613925	1132	A>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1133	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354520233 rs1326115028	1134	T>I		No	ClinGen gnomAD
rs1166348313 CA354520243	1134	T>S		No	ClinGen TOPMed
CA2613922 rs763226899	1136	K>N		No	ClinGen ExAC TOPMed gnomAD
CA354520202 rs1461193147	1137	H>Q		No	ClinGen TOPMed
TCGA novel	1138	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2613921 rs752991595	1140	K>M		No	ClinGen ExAC gnomAD
CA2613920 rs373768958	1141	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs777001054 CA2613918	1142	G>D		No	ClinGen ExAC gnomAD
rs761293366 CA2613916	1143	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs761293366 CA2613917	1143	L>V		No	ClinGen ExAC gnomAD
rs773896026 CA2613915	1144	I>M		No	ClinGen ExAC gnomAD
rs768189806 CA2613914	1145	T>S		No	ClinGen ExAC gnomAD
CA354520150 rs1221257182	1146	S>C		No	ClinGen gnomAD
CA354520147 rs1286896706	1147	F>L		No	ClinGen gnomAD
TCGA novel	1152	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780968450 CA2613909	1158	I>T		No	ClinGen ExAC gnomAD
rs1436407426 CA354520065	1158	I>V		No	ClinGen gnomAD
rs1368325982 CA354520058	1159	G>C		No	ClinGen gnomAD
CA354520042 rs1255423932	1160	T>A		No	ClinGen TOPMed
rs1476315417 CA354520035	1161	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2613898 rs377643946	1161	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA83522530 rs773718407	1164	T>N		No	ClinGen ExAC TOPMed gnomAD
CA2613897 rs773718407	1164	T>S		No	ClinGen ExAC TOPMed gnomAD
CA354519984 rs1576449572	1168	W>L		No	ClinGen Ensembl
rs768083703 CA2613896	1180	C>G		No	ClinGen ExAC gnomAD
rs200819608 CA2613895	1180	C>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774989601 CA2613894	1185	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2613893 rs769533810	1186	R>L		No	ClinGen ExAC gnomAD
CA354519856 COSM3846209 rs769533810	1186	R>Q	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs983031238 CA83522477	1187	I>M		No	ClinGen Ensembl
CA2613892 rs374570443 COSM1757072	1189	R>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs776446334 CA2613891 COSM1038279	1189	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs143815550 CA354519825	1192	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2613889 rs143815550	1192	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1488271062 CA354519795	1196	Y>C		No	ClinGen gnomAD
COSM326158 rs1258797285 CA354519790	1197	Q>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs746885985 CA354519786	1197	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA83522465 rs973035040	1197	Q>P		No	ClinGen Ensembl
rs1484367649 CA354519782	1198	S>A		No	ClinGen gnomAD
rs1255066900 CA354519779	1198	S>F		No	ClinGen gnomAD
CA354519768 rs1297275041	1200	V>M		No	ClinGen TOPMed
rs758549928 CA2613886	1201	I>M		No	ClinGen ExAC gnomAD
rs777858040 CA2613887	1201	I>T		No	ClinGen ExAC gnomAD
CA354519190 rs1253376762	1204	V>A		No	ClinGen gnomAD
TCGA novel	1204	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1205	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA83520328 rs962692848	1206	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	1207	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1392011006 CA354519158	1207	N>S		No	ClinGen gnomAD
TCGA novel	1209	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1559818501 CA354519140	1209	E>Q		No	ClinGen Ensembl
CA2613870 rs764683769	1210	V>M		No	ClinGen ExAC TOPMed gnomAD
rs759178406 CA2613869	1212	M>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1214	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA354519078 rs1167548205	1215	M>L		No	ClinGen TOPMed gnomAD
rs1167548205 CA354519077	1215	M>V		No	ClinGen TOPMed gnomAD
rs770782462 CA2613867	1217	T>I		No	ClinGen ExAC TOPMed gnomAD
CA83520274 rs888340932	1218	G>C		No	ClinGen Ensembl
CA354519049 rs1181933799	1219	D>N		No	ClinGen gnomAD
CA2613865 rs773269508	1220	R>S		No	ClinGen ExAC gnomAD
rs1177556611 CA354519029	1222	F>L		No	ClinGen TOPMed gnomAD
CA354519023 rs748148388	1222	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1049687803 CA83520258	1223	T>I		No	ClinGen Ensembl
CA354519017 rs1254728891	1224	L>V		No	ClinGen gnomAD
rs1211552964 CA354519008	1225	W>*		No	ClinGen gnomAD
rs779015297 CA354518980	1229	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2613862 rs779015297 COSM1038278	1229	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs932628465 CA83520237	1229	A>V		No	ClinGen Ensembl
rs1341548341 CA354518973	1230	P>L		No	ClinGen TOPMed
TCGA novel	1236	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2613833 rs752038224	1237	P>A		No	ClinGen ExAC TOPMed gnomAD
rs752038224 CA354518917	1237	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2613831 rs754499207	1240	H>Y		No	ClinGen ExAC gnomAD
rs766101846 CA2613829	1242	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA354518867 rs1344572469	1244	G>V		No	ClinGen gnomAD
rs1230038790 CA354518850	1247	C>R		No	ClinGen gnomAD
rs1339122184 CA354518846	1247	C>Y		No	ClinGen TOPMed gnomAD
rs1230130725 CA354518837	1248	S>R		No	ClinGen TOPMed
CA354518834 rs376277023	1249	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2613827 rs376277023	1249	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs541041519 CA2613826	1250	A>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1254	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761576420 CA354518796	1255	I>F		No	ClinGen ExAC TOPMed gnomAD
COSM218745 rs761576420 CA2613825	1255	I>V	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA83519716 rs981752462	1256	L>V		No	ClinGen Ensembl
rs774329439 CA2613824	1257	L>P		No	ClinGen ExAC gnomAD
rs1273079681 CA354518747	1263	M>T		No	ClinGen gnomAD
TCGA novel	1266	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1267	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867895592 CA83519496	1271	A>S		No	ClinGen Ensembl
CA354518660 rs1161554441	1273	P>S		No	ClinGen gnomAD
rs761643421 CA2613803	1275	R>G		No	ClinGen ExAC gnomAD
COSM3767247 rs570919545 CA2613802	1277	Y>C	liver [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2613801 rs763977862	1278	V>G		No	ClinGen ExAC gnomAD
rs1456609197 CA354518624	1279	V>I	Variant assessed as Somatic; 9.25e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA354518618 rs1409670926	1280	A>T		No	ClinGen TOPMed
CA354518603 rs1237997608	1282	S>N		No	ClinGen gnomAD
CA354518580 rs1214687618	1285	S>C		No	ClinGen gnomAD
rs201079421 CA2613800	1288	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs775418471 CA2613799	1290	Y>*		No	ClinGen ExAC gnomAD
CA354518548 rs1183416657	1291	Y>N		No	ClinGen gnomAD
CA354518496 rs1280772251	1298	T>A		No	ClinGen gnomAD
CA83519454 rs779599185	1301	V>F		No	ClinGen Ensembl
rs1326388391 CA354518468	1302	Q>R		No	ClinGen gnomAD
TCGA novel	1305	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2613782 rs140737482	1308	Q>H		No	ClinGen ESP ExAC gnomAD
rs1215097974 CA354518366	1310	V>A		No	ClinGen TOPMed
rs892897152 CA83518378	1311	G>A		No	ClinGen Ensembl
CA2613781 rs756817117	1312	P>S		No	ClinGen ExAC gnomAD
rs751245059 CA354518340	1313	S>C		No	ClinGen ExAC gnomAD
CA2613780 rs751245059	1313	S>G		No	ClinGen ExAC gnomAD
CA2613779 rs111650637	1313	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA354518326 rs1435117123	1314	D>A		No	ClinGen gnomAD
CA354518300 rs1205928745	1316	T>A		No	ClinGen TOPMed
CA354518294 rs758193124	1316	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2613778 rs758193124	1316	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1479644308 CA354518284	1317	P>L		No	ClinGen TOPMed
rs765217350 CA2613776	1318	R>*	Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs759590880 CA2613775	1318	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2613774 rs538802327	1320	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773501007 CA2613771	1325	P>L		No	ClinGen ExAC TOPMed gnomAD
CA354518194 rs1310046445	1326	V>M		No	ClinGen gnomAD
CA354518147 rs1214894891	1329	H>Q		No	ClinGen gnomAD
CA2613769 rs748594594	1329	H>R		No	ClinGen ExAC gnomAD
CA354518133 rs1364031710	1330	D>A		No	ClinGen gnomAD
CA2613768 rs145121897	1330	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1406518620 CA354518110	1332	I>L		No	ClinGen TOPMed
CA2613766 rs370833096	1332	I>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs758913806 CA83518318	1336	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2613763 rs758913806	1336	A>T	Variant assessed as Somatic; 9.249e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2613762 rs531376166	1336	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2613761 rs777548732	1337	T>A		No	ClinGen ExAC TOPMed gnomAD
rs774953971 CA354518009	1338	F>L		No	ClinGen gnomAD
CA2613760 rs758176708	1339	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1291292473 CA354517975	1340	T>A		No	ClinGen TOPMed
rs914083942 CA83518273	1342	Q>K		No	ClinGen TOPMed
CA354517884 rs1183076639	1345	I>V		No	ClinGen gnomAD
CA354517866 rs1255016824	1346	V>I		No	ClinGen gnomAD
CA354517855 rs1480557430	1347	T>A		No	ClinGen TOPMed
CA2613756 rs753838129	1348	A>V		No	ClinGen ExAC gnomAD
rs1286158231 CA354517819	1349	S>Y		No	ClinGen TOPMed gnomAD
CA2613755 rs766122644	1350	R>S		No	ClinGen ExAC gnomAD
rs766315043 CA2613754	1351	D>G		No	ClinGen ExAC gnomAD
rs1313589799 CA354517761	1353	I>T		No	ClinGen gnomAD
rs571855543 CA83518229	1354	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2613751 rs571855543	1354	V>M		No	ClinGen ExAC TOPMed gnomAD
CA354517747 rs1377282960	1355	K>R		No	ClinGen gnomAD
CA354517737 rs1443396919	1356	V>L		No	ClinGen gnomAD

No associated diseases with Q99570

9 regional properties for Q99570

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	26 - 324	IPR000719
repeat	WD40 repeat	982 - 1030	IPR001680-1
repeat	WD40 repeat	1031 - 1070	IPR001680-2
repeat	WD40 repeat	1132 - 1169	IPR001680-3
repeat	WD40 repeat	1171 - 1214	IPR001680-4
repeat	WD40 repeat	1228 - 1269	IPR001680-5
repeat	WD40 repeat	1317 - 1358	IPR001680-6
active_site	Serine/threonine-protein kinase, active site	144 - 156	IPR008271
repeat	HEAT, type 2	463 - 493	IPR021133

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Late endosome Cytoplasmic vesicle, autophagosome Membrane ; Lipid-anchor	As component of the PI3K complex I localized to pre-autophagosome structures As component of the PI3K complex II localized predominantly to endosomes Localizes also to discrete punctae along the ciliary axoneme (By similarity)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
autophagosome	A double-membrane-bounded compartment that engulfs endogenous cellular material as well as invading microorganisms to target them to the lytic vacuole/lysosome for degradation as part of macroautophagy.
axoneme	The bundle of microtubules and associated proteins that forms the core of cilia (also called flagella) in eukaryotic cells and is responsible for their movements.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
late endosome	A prelysosomal endocytic organelle differentiated from early endosomes by lower lumenal pH and different protein composition. Late endosomes are more spherical than early endosomes and are mostly juxtanuclear, being concentrated near the microtubule organizing center.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
microtubule cytoskeleton	The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins.
nucleus-vacuole junction	An organelle membrane contact site formed between the vacuole membrane and the outer nuclear membrane. In S. cerevisiae these contacts are mediated through direct physical interaction between Vac8p and Nvj1p.
phagocytic vesicle membrane	The lipid bilayer surrounding a phagocytic vesicle.
phosphatidylinositol 3-kinase complex, class III	A phosphatidylinositol 3-kinase complex that contains a catalytic class III phosphoinositide 3-kinase (PI3K) subunit bound to a regulatory (adaptor) subunit. Additional adaptor proteins may be present. Class III PI3Ks have a substrate specificity restricted to phosphatidylinositol (PI).
phosphatidylinositol 3-kinase complex, class III, type I	A class III phosphatidylinositol 3-kinase complex that is involved in autophagy. In budding yeast, this complex consists of Vps30p, Vps34p, Apg14p and Vps15p.
phosphatidylinositol 3-kinase complex, class III, type II	A class III phosphatidylinositol 3-kinase complex that is involved in vacuolar protein sorting (VPS) via endosomes. In budding yeast, this complex consists of Vps30p, Vps34p, Vps38 and Vps15p.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
protein kinase activity	Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.

15 GO annotations of biological process

Name	Definition
autophagosome maturation	Removal of PI3P and Atg8/LC3 after the closure of the phagophore and before the fusion with the endosome/lysosome (e.g. mammals and insects) or vacuole (yeast), and that very likely destabilizes other Atg proteins and thus enables their efficient dissociation and recycling.
autophagy of peroxisome	The process in which peroxisomes are delivered to a type of vacuole and degraded in response to changing nutrient conditions.
cellular response to glucose starvation	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 deprivation of glucose.
early endosome to late endosome transport	The directed movement of substances, in membrane-bounded vesicles, from the early sorting endosomes to the late sorting endosomes; transport occurs along microtubules and can be experimentally blocked with microtubule-depolymerizing drugs.
late endosome to vacuole transport	The directed movement of substances from late endosomes to the vacuole. In yeast, after transport to the prevacuolar compartment, endocytic content is delivered to the late endosome and on to the vacuole. This pathway is analogous to endosome to lysosome transport.
macroautophagy	The major inducible pathway for the general turnover of cytoplasmic constituents in eukaryotic cells, it is also responsible for the degradation of active cytoplasmic enzymes and organelles during nutrient starvation. Macroautophagy involves the formation of double-membrane-bounded autophagosomes which enclose the cytoplasmic constituent targeted for degradation in a membrane-bounded structure. Autophagosomes then fuse with a lysosome (or vacuole) releasing single-membrane-bounded autophagic bodies that are then degraded within the lysosome (or vacuole). Some types of macroautophagy, e.g. pexophagy, mitophagy, involve selective targeting of the targets to be degraded.
phosphatidylinositol-3-phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol-3-phosphate, a phosphatidylinositol monophosphate carrying the phosphate group at the 3-position.
positive regulation of phosphatidylinositol 3-kinase activity	Any process that activates or increases the frequency, rate or extent of phosphatidylinositol 3-kinase activity.
protein phosphorylation	The process of introducing a phosphate group on to a protein.
protein targeting to lysosome	The process of directing proteins towards the lysosome using signals contained within the protein.
protein targeting to vacuole	The process of directing proteins towards the vacuole, usually using signals contained within the protein.
receptor catabolic process	The chemical reactions and pathways resulting in the breakdown of a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
regulation of autophagy	Any process that modulates the frequency, rate or extent of autophagy. Autophagy is the process in which cells digest parts of their own cytoplasm.
regulation of cytokinesis	Any process that modulates the frequency, rate or extent of the division of the cytoplasm of a cell and its separation into two daughter cells.
regulation of macroautophagy	Any process that modulates the frequency, rate or extent of macroautophagy.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q8VD65	Pik3r4	Phosphoinositide 3-kinase regulatory subunit 4	Mus musculus (Mouse)	PR
P0C0R5	Pik3r4	Phosphoinositide 3-kinase regulatory subunit 4	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MGNQLAGIAP	SQILSVESYF	SDIHDFEYDK	SLGSTRFFKV	ARAKHREGLV	VVKVFAIQDP
70	80	90	100	110	120
TLPLTSYKQE	LEELKIRLNS	AQNCLPFQKA	SEKASEKAAM	LFRQYVRDNL	YDRISTRPFL
130	140	150	160	170	180
NNIEKRWIAF	QILTAVDQAH	KSGVRHGDIK	TENVMVTSWN	WVLLTDFASF	KPTYLPEDNP
190	200	210	220	230	240
ADFNYFFDTS	RRRTCYIAPE	RFVDGGMFAT	ELEYMRDPST	PLVDLNSNQR	TRGELKRAMD
250	260	270	280	290	300
IFSAGCVIAE	LFTEGVPLFD	LSQLLAYRNG	HFFPEQVLNK	IEDHSIRELV	TQMIHREPDK
310	320	330	340	350	360
RLEAEDYLKQ	QRGNAFPEIF	YTFLQPYMAQ	FAKETFLSAD	ERILVIRKDL	GNIIHNLCGH
370	380	390	400	410	420
DLPEKAEGEP	KENGLVILVS	VITSCLQTLK	YCDSKLAALE	LILHLAPRLS	VEILLDRITP
430	440	450	460	470	480
YLLHFSNDSV	PRVRAEALRT	LTKVLALVKE	VPRNDINIYP	EYILPGIAHL	AQDDATIVRL
490	500	510	520	530	540
AYAENIALLA	ETALRFLELV	QLKNLNMEND	PNNEEIDEVT	HPNGNYDTEL	QALHEMVQQK
550	560	570	580	590	600
VVTLLSDPEN	IVKQTLMENG	ITRLCVFFGR	QKANDVLLSH	MITFLNDKND	WHLRGAFFDS
610	620	630	640	650	660
IVGVAAYVGW	QSSSILKPLL	QQGLSDAEEF	VIVKALYALT	CMCQLGLLQK	PHVYEFASDI
670	680	690	700	710	720
APFLCHPNLW	IRYGAVGFIT	VVARQISTAD	VYCKLMPYLD	PYITQPIIQI	ERKLVLLSVL
730	740	750	760	770	780
KEPVSRSIFD	YALRSKDITS	LFRHLHMRQK	KRNGSLPDCP	PPEDPAIAQL	LKKLLSQGMT
790	800	810	820	830	840
EEEEDKLLAL	KDFMMKSNKA	KANIVDQSHL	HDSSQKGVID	LAALGITGRQ	VDLVKTKQEP
850	860	870	880	890	900
DDKRARKHVK	QDSNVNEEWK	SMFGSLDPPN	MPQALPKGSD	QEVIQTGKPP	RSESSAGICV
910	920	930	940	950	960
PLSTSSQVPE	VTTVQNKKPV	IPVLSSTILP	STYQIRITTC	KTELQQLIQQ	KREQCNAERI
970	980	990	1000	1010	1020
AKQMMENAEW	ESKPPPPGWR	PKGLLVAHLH	EHKSAVNRIR	VSDEHSLFAT	CSNDGTVKIW
1030	1040	1050	1060	1070	1080
NSQKMEGKTT	TTRSILTYSR	IGGRVKTLTF	CQGSHYLAIA	SDNGAVQLLG	IEASKLPKSP
1090	1100	1110	1120	1130	1140
KIHPLQSRIL	DQKEDGCVVD	MHHFNSGAQS	VLAYATVNGS	LVGWDLRSSS	NAWTLKHDLK
1150	1160	1170	1180	1190	1200
SGLITSFAVD	IHQCWLCIGT	SSGTMACWDM	RFQLPISSHC	HPSRARIRRL	SMHPLYQSWV
1210	1220	1230	1240	1250	1260
IAAVQGNNEV	SMWDMETGDR	RFTLWASSAP	PLSELQPSPH	SVHGIYCSPA	DGNPILLTAG
1270	1280	1290	1300	1310	1320
SDMKIRFWDL	AYPERSYVVA	GSTSSPSVSY	YRKIIEGTEV	VQEIQNKQKV	GPSDDTPRRG
1330	1340	1350
PESLPVGHHD	IITDVATFQT	TQGFIVTASR	DGIVKVWK