AiPD: Autoinhibited Protein Database

Q24JP5

Gene name	TMEM132A (HSPA5BP1, KIAA1583)
Protein name	Transmembrane protein 132A
Names	HSPA5-binding protein 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:54972
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

182-265 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

182-265 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q24JP5

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q24JP5-F1	Predicted				AlphaFoldDB

1021 variants for Q24JP5

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA222811665 rs375959105	2	C>Y		No	ClinGen ESP TOPMed gnomAD
CA6028446 rs753946392	3	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6028448 rs779027830	7	G>C		No	ClinGen ExAC gnomAD
rs758350170 CA6028450	8	R>L		No	ClinGen ExAC gnomAD
CA6028449 rs745831135	8	R>S		No	ClinGen ExAC gnomAD
rs768427653 CA6028454	13	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1360768126 CA380617343	14	R>Q		No	ClinGen TOPMed
CA380617354 rs1280357669	15	G>E		No	ClinGen gnomAD
rs1167277832 CA380617350	15	G>R		No	ClinGen TOPMed gnomAD
rs1167277832 CA380617352	15	G>W		No	ClinGen TOPMed gnomAD
CA380617360 rs1386140665	16	P>S		No	ClinGen TOPMed
rs1226325924 CA380617375	17	Y>*		No	ClinGen gnomAD
CA380617372 rs1350308795	17	Y>C		No	ClinGen gnomAD
CA6028456 rs747686642	18	G>D		No	ClinGen ExAC TOPMed gnomAD
rs776384280 CA6028455	18	G>S		No	ClinGen ExAC gnomAD
rs747686642 CA380617385	18	G>V		No	ClinGen ExAC TOPMed gnomAD
rs947360193 CA222811687	19	P>R		No	ClinGen Ensembl
CA380617390 rs1254007876	19	P>S		No	ClinGen gnomAD
rs760031724 CA6028459	20	W>C		No	ClinGen ExAC gnomAD
rs768007103 CA6028460	22	C>S		No	ClinGen ExAC TOPMed gnomAD
CA380617448 rs1412875079	24	L>R		No	ClinGen TOPMed
rs775720019 CA6028461	25	V>L		No	ClinGen ExAC TOPMed gnomAD
rs775720019 CA380617452	25	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1470515354 CA380617467	26	A>V		No	ClinGen gnomAD
CA222811697 rs531438004	30	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
rs764319138 CA6028463	31	V>I		No	ClinGen ExAC TOPMed gnomAD
rs754108189 CA6028464	32	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6028465 rs757440298	33	R>K		No	ClinGen ExAC gnomAD
CA380618027 rs1325725855	34	V>A		No	ClinGen TOPMed
rs763065077 CA6028502	35	D>G		No	ClinGen ExAC TOPMed gnomAD
CA6028503 rs766522709	36	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs528578201 CA380618080	39	A>P		No	ClinGen 1000Genomes ExAC gnomAD
CA380618078 rs528578201	39	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs528578201 CA6028504	39	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1393792378 CA380618085	39	A>V		No	ClinGen gnomAD
rs1308687436 CA380618093	40	P>L		No	ClinGen gnomAD
CA6028506 rs767492710	41	L>R		No	ClinGen ExAC gnomAD
CA380618108 rs1590622644	42	D>A		No	ClinGen Ensembl
CA380618104 rs1229371088	42	D>H		No	ClinGen gnomAD
CA6028508 rs755887076	43	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1206068920 CA380618126	44	V>I		No	ClinGen gnomAD
COSM4145950 rs1206068920 COSM4145951 CA380618128	44	V>L	thyroid [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	45	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1590622669 CA380618140	45	Y>S		No	ClinGen Ensembl
CA6028511 rs756853922	47	P>L		No	ClinGen ExAC gnomAD
CA380618160 rs1192333595	47	P>S		No	ClinGen gnomAD
CA6028513 rs373548195	48	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6028514 rs755481377	48	A>V		No	ClinGen ExAC gnomAD
CA380618177 rs1409432605	49	A>T		No	ClinGen gnomAD
CA380618181 rs1470839638	49	A>V		No	ClinGen gnomAD
CA6028515 rs200112515	50	L>P		No	ClinGen ExAC gnomAD
CA6028516 rs748485714	52	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	53	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773420980 CA380618231	54	D>E		No	ClinGen ExAC TOPMed gnomAD
CA380618220 rs1373566004	54	D>N		No	ClinGen gnomAD
CA6028517 rs374932377	54	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA222812346 rs368725034	55	A>G		No	ClinGen ESP
rs749594128 CA6028519	55	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6028520 rs771049171	57	E>Q		No	ClinGen ExAC gnomAD
CA6028521 rs774589852	60	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6028522 rs759646320	60	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1208076636 CA380618327	63	Q>H		No	ClinGen TOPMed gnomAD
rs1253113621 CA380618332	64	V>L		No	ClinGen gnomAD
TCGA novel	66	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6028523 rs767580834	67	Y>D		No	ClinGen ExAC gnomAD
rs780761157 CA6028524	69	P>H		No	ClinGen ExAC TOPMed gnomAD
rs1389786317 CA380618384	69	P>T		No	ClinGen gnomAD
rs760495803 CA6028525	71	N>Y		No	ClinGen ExAC gnomAD
CA6028526 rs764016345	75	S>N		No	ClinGen ExAC
CA380618466 rs1382030945	77	R>*		No	ClinGen gnomAD
CA380618470 rs753559216	77	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753559216 CA6028528	77	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1590622817 CA380618493	80	T>P		No	ClinGen Ensembl
CA6028529 rs200931303	81	F>L		No	ClinGen ExAC TOPMed gnomAD
rs149428442 CA380618534	84	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs976230053 CA222812364	85	Q>*		No	ClinGen TOPMed
rs1034671267 CA380618555	86	P>S		No	ClinGen TOPMed gnomAD
rs1034671267 CA222812368	86	P>T		No	ClinGen TOPMed gnomAD
CA6028533 rs757855854	87	W>G		No	ClinGen ExAC
CA380618567 rs1367114784	87	W>S		No	ClinGen gnomAD
rs1407126377 CA380618580	88	P>R		No	ClinGen gnomAD
CA380618588 rs1590622864	89	R>T		No	ClinGen Ensembl
CA6028534 rs76466797	90	A>P		No	ClinGen ExAC TOPMed gnomAD
rs76466797 CA6028535	90	A>T		No	ClinGen ExAC TOPMed gnomAD
CA6028536 rs756578318	90	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6028537 rs778263099	92	P>S		No	ClinGen ExAC TOPMed gnomAD
rs778263099 CA380618611	92	P>T		No	ClinGen ExAC TOPMed gnomAD
CA222812384 rs1009287748	95	R>Q		No	ClinGen TOPMed gnomAD
rs773906622 CA6028538	95	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1204603885 CA380618653	97	S>A		No	ClinGen gnomAD
rs200168099 CA380618655	97	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs200168099 CA6028539	97	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs371122841 CA222812387	99	P>A		No	ClinGen ESP TOPMed gnomAD
CA380618711 rs1490915470	103	T>P		No	ClinGen gnomAD
rs1383144622 CA380618726	104	Q>R		No	ClinGen TOPMed
rs1565119120 CA380618779	106	V>M		No	ClinGen Ensembl
TCGA novel	107	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6028559 rs746155825	108	P>L		No	ClinGen ExAC gnomAD
rs538667454 CA380618808	109	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs538667454 CA380618811	109	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6028562 rs538667454	109	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6028563 rs768669264	110	R>G		No	ClinGen ExAC gnomAD
CA6028565 rs144704995	110	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6028564 rs144704995	110	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6028566 rs769618210	112	T>I		No	ClinGen ExAC gnomAD
rs1590623162 CA380618825	112	T>P		No	ClinGen Ensembl
rs1389977239 CA380618850	114	P>S		No	ClinGen gnomAD
CA380618858 rs1590623191	115	H>P		No	ClinGen Ensembl
CA6028568 rs762654207	115	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA380618868 rs751089802	116	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA222812473 rs751089802	116	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA6028570 rs751089802	116	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA380618876 rs758917002	117	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767027606 CA6028572	117	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6028571 rs758917002	117	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1297887349 CA380618883	118	P>S		No	ClinGen TOPMed
CA380618915 rs1268485567	121	W>R		No	ClinGen gnomAD
CA380618940 rs114893240	122	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6028574 CA380618947 rs757832131	123	V>L		No	ClinGen ExAC gnomAD
CA222812481 rs757832131	123	V>M		No	ClinGen ExAC gnomAD
CA380618958 rs1186294209	124	R>Q		No	ClinGen TOPMed gnomAD
CA6028575 rs373031720	124	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA6028577 rs758698043	126	V>I		No	ClinGen ExAC TOPMed gnomAD
rs773742701 CA222812490	129	E>K		No	ClinGen Ensembl
CA6028578 rs376179392	130	A>V		No	ClinGen ESP ExAC gnomAD
CA380619036 rs1457055592	131	A>S		No	ClinGen TOPMed gnomAD
rs1457055592 CA380619033	131	A>T		No	ClinGen TOPMed gnomAD
rs1405066534 CA380619049	132	V>A		No	ClinGen gnomAD
CA6028581 rs572038760	132	V>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1415088404 CA380619061	133	T>I		No	ClinGen gnomAD
CA380619053 rs1590623322	133	T>P		No	ClinGen Ensembl
CA380619067 rs1406401057	134	P>L		No	ClinGen gnomAD
CA380619062 rs1258175030	134	P>T		No	ClinGen TOPMed
CA222812498 rs1020654105	135	A>T		No	ClinGen TOPMed gnomAD
rs1276604466 CA380619093	136	E>D		No	ClinGen TOPMed
CA380619082 rs1320764931	136	E>K		No	ClinGen TOPMed
CA222812501 rs903604983	137	P>S		No	ClinGen TOPMed
rs748152203 CA380619119	138	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA6028583 rs769708258	139	A>S		No	ClinGen ExAC TOPMed gnomAD
rs769708258 CA222812505	139	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs139246153 CA6028585	140	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6028584 rs374551089	140	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA380619179 rs1338436353	144	H>Y		No	ClinGen Ensembl
CA222812515 rs1019617213	146	K>E		No	ClinGen Ensembl
CA380619208 rs1590623404	146	K>I		No	ClinGen Ensembl
rs1199356603 CA380619228	148	Q>*		No	ClinGen gnomAD
rs370154055 CA6028588	152	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258730035 CA380619291	153	G>W		No	ClinGen gnomAD
rs1590623423 CA380619304	154	S>A		No	ClinGen Ensembl
CA222812524 rs1052927250	155	G>S		No	ClinGen TOPMed
CA6028590 rs775123362	158	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs891640438 CA222812530	159	C>R		No	ClinGen TOPMed
rs754114057 CA222812533	159	C>Y		No	ClinGen gnomAD
CA222812535 rs554324495	160	A>S		No	ClinGen 1000Genomes gnomAD
rs765770473 CA6028592	161	R>Q		No	ClinGen ExAC gnomAD
COSM3666456 COSM3666455 rs374191784 CA6028591	161	R>W	liver urinary_tract Variant assessed as Somatic; 9.606e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA222812541 rs919298396	164	A>D		No	ClinGen Ensembl
rs758786158 CA6028594	166	H>P		No	ClinGen ExAC gnomAD
CA222812545 rs1011811778	166	H>Q		No	ClinGen TOPMed gnomAD
CA6028593 rs750847310	166	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs202235322 CA6028595	167	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6028598 rs781189570	169	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6028599 rs748170489	170	T>I		No	ClinGen ExAC TOPMed gnomAD
CA380619491 rs748170489	170	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	171	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369462368 CA6028600	171	A>V		No	ClinGen ExAC gnomAD
CA380619531 rs1228587611	173	Q>H		No	ClinGen gnomAD
CA6028601 rs777651889	174	A>G		No	ClinGen ExAC TOPMed gnomAD
COSM1585854 rs368067544 CA6028602 COSM929332	175	C>Y	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
rs770668657 CA6028603	176	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6028604 rs144441365	176	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1388232484 CA380619640	182	G>D		No	ClinGen TOPMed
rs768321505 CA6028627	183	A>S		No	ClinGen ExAC TOPMed gnomAD
rs768321505 CA6028628	183	A>T		No	ClinGen ExAC TOPMed gnomAD
CA380619653 rs763429462	184	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1244474054 CA380619650	184	C>Y		No	ClinGen gnomAD
rs771413372 CA6028630	185	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	187	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	187	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	187	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6028633 rs767752211	192	S>L		No	ClinGen ExAC TOPMed gnomAD
rs760878636 CA6028635	194	W>R		No	ClinGen ExAC TOPMed gnomAD
CA6028636 rs764212945	198	A>V		No	ClinGen ExAC TOPMed gnomAD
CA6028641 rs140412965	202	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs140412965 CA6028640	202	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs151190793 CA6028639	202	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA380619768 rs779963929	203	A>P		No	ClinGen ExAC gnomAD
CA6028642 rs779963929	203	A>S		No	ClinGen ExAC gnomAD
rs746726353 CA6028643	203	A>V		No	ClinGen ExAC TOPMed gnomAD
rs371465076 CA6028645	204	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs929716792 CA222812829	208	T>M		No	ClinGen TOPMed gnomAD
CA380619839 rs1183337780	214	E>G		No	ClinGen gnomAD
CA380619852 rs370425430	216	P>L		No	ClinGen gnomAD
rs370425430 CA222812834	216	P>R		No	ClinGen gnomAD
rs771375975 CA6028647	217	G>E		No	ClinGen ExAC TOPMed gnomAD
CA380619861 rs1288257723	218	G>D		No	ClinGen gnomAD
CA380619863 rs1288257723	218	G>V		No	ClinGen gnomAD
CA6028648 rs774876744	221	S>C		No	ClinGen ExAC TOPMed gnomAD
CA222812839 rs774876744	221	S>F		No	ClinGen ExAC TOPMed gnomAD
CA380619879 rs1464145480	221	S>T		No	ClinGen TOPMed
CA6028651 rs759978378	222	G>S		No	ClinGen ExAC TOPMed gnomAD
CA6028653 rs149956203	223	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA6028654 rs149956203	223	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA380619893 rs1472786698	224	E>K		No	ClinGen gnomAD
rs761902925 CA6028655	225	N>D		No	ClinGen ExAC gnomAD
rs758396578 COSM401216 CA6028658	226	D>E	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs374644513 COSM1746367 CA6028657 COSM1746368	226	D>N	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs547896384 CA380619923	228	G>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1464111143 CA380619920	228	G>R		No	ClinGen gnomAD
CA6028659 rs547896384	228	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA380619925 rs1257651839	229	E>K		No	ClinGen TOPMed
CA380619937 rs1233737686	230	Q>R		No	ClinGen TOPMed
CA380619944 rs1410804359	231	A>D		No	ClinGen gnomAD
CA380619943 rs1370851171	231	A>S		No	ClinGen TOPMed gnomAD
rs1370851171 CA380619941	231	A>T		No	ClinGen TOPMed gnomAD
rs895161698 CA222812851	232	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1308808678 CA380619962	234	V>G		No	ClinGen TOPMed
CA6028662 rs780846252	235	G>E		No	ClinGen ExAC gnomAD
CA222812854 rs754688460 CA6028661	235	G>R		No	ClinGen ExAC TOPMed gnomAD
rs754688460 CA380619964	235	G>W		No	ClinGen ExAC TOPMed gnomAD
rs747639573 CA6028663	236	G>C		No	ClinGen ExAC gnomAD
rs1232253290 CA380619969	236	G>D		No	ClinGen TOPMed gnomAD
rs1307852183	236	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs77946216 CA6028664	240	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6028665 rs369259825	240	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA380619994 rs369259825	240	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1590624442 CA380620010	243	D>A		No	ClinGen Ensembl
CA6028667 rs536754543	245	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs536754543 CA6028668	245	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380620032 rs1452021766	246	Q>H		No	ClinGen gnomAD
rs1441137795 CA380620028	246	Q>R		No	ClinGen TOPMed
CA6028670 rs747327770	247	Y>N		No	ClinGen ExAC gnomAD
rs1428663289 CA380620040	248	Q>K		No	ClinGen gnomAD
rs1590624491 CA380620061	250	V>G		No	ClinGen Ensembl
rs1166343595 CA380620065	251	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA6028672 rs144698752	253	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6028673 rs761919816	254	E>D		No	ClinGen ExAC TOPMed gnomAD
CA380620080 rs1186269173	254	E>K		No	ClinGen TOPMed
CA6028676 rs773160813	257	T>I		No	ClinGen ExAC TOPMed gnomAD
CA6028678 rs576673093	259	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762987035 CA6028677	259	R>W		No	ClinGen ExAC TOPMed gnomAD
CA6028681 rs767181431	263	M>T		No	ClinGen ExAC gnomAD
rs1246035580 CA380620143	264	P>L		No	ClinGen gnomAD
CA380620144 rs1246035580	264	P>Q		No	ClinGen gnomAD
CA380620147 rs539239034	265	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6028682 rs539239034	265	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6028684 COSM1355146 rs777345475 COSM1355145	266	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA6028683 COSM1355144 rs140281492 COSM1355143	266	R>W	large_intestine Variant assessed as Somatic; 0.0002323 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs372811050 CA6028685	268	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA380620171 rs1360351116	269	Q>H		No	ClinGen TOPMed
rs1415926097 CA380620169	269	Q>R		No	ClinGen TOPMed
rs758929101 CA380620191	272	S>I		No	ClinGen ExAC TOPMed gnomAD
CA6028686 rs758929101	272	S>N		No	ClinGen ExAC TOPMed gnomAD
CA380620193 rs1590624597	272	S>R		No	ClinGen Ensembl
rs780501243 CA6028688	275	L>I		No	ClinGen ExAC gnomAD
rs145130532 CA6028689	276	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA6028691 rs61751216	278	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6028690 rs200263361	278	R>W		No	ClinGen ExAC TOPMed gnomAD
CA380620229 rs1268627185	279	H>L		No	ClinGen gnomAD
CA380620231 rs1203342080	279	H>Q		No	ClinGen TOPMed gnomAD
CA222812942 rs77533081	281	F>S		No	ClinGen Ensembl
rs1241626163 CA380620252	282	T>I		No	ClinGen gnomAD
CA222812945 rs200641516	285	L>P		No	ClinGen 1000Genomes gnomAD
rs866462182 CA222812948	287	T>A		No	ClinGen gnomAD
CA6028693 rs769839989	287	T>I		No	ClinGen ExAC gnomAD
CA380620284 rs1464037495	288	L>P		No	ClinGen gnomAD
CA6028695 rs763076643	289	R>Q		No	ClinGen ExAC gnomAD
rs773354003 CA6028694	289	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1415178259 CA380620307	290	I>M		No	ClinGen gnomAD
TCGA novel	290	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749486906 CA6028712	294	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	296	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774555035 CA6028714	298	V>M		No	ClinGen ExAC gnomAD
CA222813566 rs942701081	301	A>T		No	ClinGen TOPMed gnomAD
rs771850213 CA6028716	301	A>V		No	ClinGen ExAC gnomAD
rs775380288 CA6028717	302	R>C		No	ClinGen ExAC gnomAD
CA6028718 rs538143219	302	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA380620384 rs1205469112	303	P>L		No	ClinGen gnomAD
CA380620392 rs1252931505	304	A>V		No	ClinGen gnomAD
rs764795345 CA6028722	306	P>L		No	ClinGen ExAC gnomAD
rs764795345 CA380620404	306	P>R		No	ClinGen ExAC gnomAD
rs761442358 CA6028721	306	P>S		No	ClinGen ExAC TOPMed gnomAD
CA380620424 rs1173136468	309	W>C		No	ClinGen gnomAD
CA380620428 rs1437037486	310	T>A		No	ClinGen TOPMed gnomAD
CA380620434 rs1289280469	311	A>S		No	ClinGen gnomAD
rs1378385022 CA380620442	312	K>R		No	ClinGen TOPMed
CA222813605 rs571711270	315	R>C	Variant assessed as Somatic; 4.65e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs753135679 CA6028726	315	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753135679 CA380620461	315	R>L		No	ClinGen ExAC TOPMed gnomAD
rs571711270 CA6028725	315	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1325436438 CA380620471	317	K>E		No	ClinGen gnomAD
rs1331660491 CA380620474	317	K>R		No	ClinGen gnomAD
rs1439483724 CA380620499	321	H>Y		No	ClinGen TOPMed gnomAD
rs756472326 CA6028727	322	H>R		No	ClinGen ExAC gnomAD
rs865991823 CA222813613	322	H>Y		No	ClinGen Ensembl
rs778257690 CA6028728	324	T>S		No	ClinGen ExAC gnomAD
rs749576664 CA6028729	326	I>V		No	ClinGen ExAC gnomAD
CA380620539 rs1273473723	327	T>I		No	ClinGen gnomAD
CA6028732 rs779152663	330	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6028731 rs779152663	330	R>G		No	ClinGen ExAC TOPMed gnomAD
CA6028733 rs150894243	330	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA380620567 rs1193579083	332	G>W		No	ClinGen gnomAD
rs775331645 CA6028734	334	T>A		No	ClinGen ExAC
TCGA novel	335	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs367930901 CA6028736	335	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760640020 CA6028735	335	E>K		No	ClinGen ExAC TOPMed
rs776405918 CA6028737	337	D>A		No	ClinGen ExAC gnomAD
CA380620598 rs776405918	337	D>V		No	ClinGen ExAC gnomAD
TCGA novel	338	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6028738 rs761458629	339	S>N		No	ClinGen ExAC gnomAD
rs1184959988 CA380620636	340	P>S		No	ClinGen TOPMed
rs1184959988 CA380620634	340	P>T		No	ClinGen TOPMed
CA6028747 rs138156166	341	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	343	L>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380620661 rs1185400176	344	S>F		No	ClinGen TOPMed
CA6028748 rs202048669	345	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA380620672 rs1390806857	346	F>L		No	ClinGen gnomAD
rs746074326 CA6028749	346	F>S		No	ClinGen ExAC
CA380620697 rs1457281001	349	V>G		No	ClinGen gnomAD
rs758458528 CA6028750	350	D>G		No	ClinGen ExAC gnomAD
CA380620713 rs1565121006	352	V>M		No	ClinGen Ensembl
rs1237644347 CA380620724	353	V>A		No	ClinGen TOPMed
rs1485169633 CA380620720	353	V>L		No	ClinGen gnomAD
rs1214472957 CA380620725	354	E>K		No	ClinGen TOPMed
CA6028751 rs143804473	357	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1333942860 CA380620762	359	G>E		No	ClinGen TOPMed
CA380620760 rs899958405 CA222817021	359	G>R		No	ClinGen TOPMed gnomAD
rs1333942860 CA380620764	359	G>V		No	ClinGen TOPMed
CA380620761 rs899958405	359	G>W		No	ClinGen TOPMed gnomAD
TCGA novel	360	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1233116557 CA380620769	360	G>A		No	ClinGen gnomAD
CA6028753 rs147239477 COSM347402	361	V>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA380620772 rs147239477	361	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748299271 CA6028754	362	A>G		No	ClinGen ExAC TOPMed gnomAD
rs748299271 CA6028755	362	A>V		No	ClinGen ExAC TOPMed gnomAD
rs773336173 CA6028757	365	R>C		No	ClinGen ExAC TOPMed gnomAD
CA6028758 rs567659241	365	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1257212198 CA380620797	366	P>S		No	ClinGen gnomAD
CA6028760 rs773903804 COSM1166214 COSM1166213	367	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761264479 CA6028761	368	T>M		No	ClinGen ExAC gnomAD
CA380620815 rs1256425961	369	W>*		No	ClinGen TOPMed
CA6028763 rs754289821	373	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs754289821 CA380620843	373	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs757738164 CA6028764	375	G>A		No	ClinGen ExAC gnomAD
rs868024774 CA222817071	377	A>D		No	ClinGen TOPMed
CA380620872 rs868024774	377	A>V		No	ClinGen TOPMed
CA380620873 rs1208765612	378	P>S		No	ClinGen TOPMed
rs750670956 CA6028766	381	E>K		No	ClinGen ExAC gnomAD
rs898514078 CA222817078	383	D>E		No	ClinGen gnomAD
CA380620910 rs1414520611	383	D>Y		No	ClinGen TOPMed gnomAD
TCGA novel	385	M>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201061336 CA222817082	386	V>M		No	ClinGen Ensembl
CA222817131 rs370174434	393	E>D		No	ClinGen ESP TOPMed gnomAD
rs747052384 CA6028769	393	E>K		No	ClinGen ExAC gnomAD
CA380620978 rs747052384	393	E>Q		No	ClinGen ExAC gnomAD
rs754931411 CA6028770	394	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1315196723 CA380620985	394	R>W		No	ClinGen TOPMed gnomAD
CA380620991 rs1360001466	395	D>A		No	ClinGen TOPMed
CA380621000 rs1322678039	396	I>S		No	ClinGen TOPMed
rs781065699 CA6028771	396	I>V		No	ClinGen ExAC gnomAD
rs59336122 CA222817183	397	R>K		No	ClinGen Ensembl
CA6028774 rs773044778	399	L>F	Variant assessed as Somatic; 0.0001848 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1435840474 CA380621032	401	P>L		No	ClinGen TOPMed
TCGA novel	401	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6028776 rs770546795	402	L>P		No	ClinGen ExAC gnomAD
CA6028775 rs748956017	402	L>V		No	ClinGen ExAC TOPMed gnomAD
CA380621041 rs1176543057	403	A>V		No	ClinGen gnomAD
CA6028795 rs745496674	405	A>T		No	ClinGen ExAC gnomAD
rs1393818462 CA380621066	405	A>V		No	ClinGen TOPMed gnomAD
rs143096147 CA6028796	406	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs920218030 CA222817272	407	E>G		No	ClinGen TOPMed gnomAD
CA6028797 rs775137378 COSM1229522 COSM1229521	409	V>A	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs563789733 CA222817273	412	A>P		No	ClinGen Ensembl
CA380621109 rs1214181043	412	A>V		No	ClinGen gnomAD
CA6028799 rs144571499	414	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1210108389 CA380621122	415	T>P		No	ClinGen TOPMed gnomAD
CA6028800 rs773470242	417	V>M		No	ClinGen ExAC gnomAD
CA380621142 rs1474848004	418	P>L		No	ClinGen gnomAD
CA6028801 rs763336903	419	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1417731288 CA380621154	420	H>R		No	ClinGen gnomAD
CA6028802 rs766620016	421	V>G		No	ClinGen ExAC gnomAD
rs759738052 CA6028804	423	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6028805 COSM1355149 COSM1355150 rs566097839	424	R>C	large_intestine Variant assessed as Somatic; 4.878e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs752702981 CA6028806	424	R>H		No	ClinGen ExAC gnomAD
CA380621174 rs566097839	424	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1430211601 CA380621180	425	L>F		No	ClinGen TOPMed gnomAD
CA380621208 rs180839936	429	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757127169 CA6028812	431	G>A		No	ClinGen ExAC gnomAD
rs183954132 CA222817342	431	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183954132 CA6028811	431	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380621219 rs1284277624	432	G>R		No	ClinGen gnomAD
CA380621228 rs1590627244	433	A>G		No	ClinGen Ensembl
CA380621226 rs745584644	433	A>P		No	ClinGen ExAC TOPMed gnomAD
CA6028814 rs745584644	433	A>S		No	ClinGen ExAC TOPMed gnomAD
CA380621225 rs745584644	433	A>T		No	ClinGen ExAC TOPMed gnomAD
rs771785793 CA6028815	435	V>A		No	ClinGen ExAC gnomAD
rs1486843355 CA380621242	436	E>K		No	ClinGen gnomAD
CA380621253 rs1590627280	437	V>G		No	ClinGen Ensembl
rs746470641 CA6028817	437	V>L		No	ClinGen ExAC gnomAD
rs746470641 CA6028818	437	V>M		No	ClinGen ExAC gnomAD
rs1417630227 CA380621280	441	V>A		No	ClinGen gnomAD
rs573630966 CA6028819	442	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763345487 CA6028820	442	G>V		No	ClinGen ExAC gnomAD
rs761501384 CA380621292	443	C>*		No	ClinGen ExAC TOPMed gnomAD
CA6028822 rs774690482	444	E>K		No	ClinGen ExAC TOPMed gnomAD
CA6028823 rs774690482	444	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1590627340 CA380621302	445	S>A		No	ClinGen Ensembl
rs767664310 CA6028824	448	T>A		No	ClinGen ExAC gnomAD
rs1415138415 CA380621324	448	T>I		No	ClinGen gnomAD
CA6028825 rs775565818	449	Q>*		No	ClinGen ExAC gnomAD
COSM1139832 CA222817439 COSM543952 rs760853384 CA6028826	449	Q>H	Variant assessed as Somatic; 0.0 impact. lung [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA380621334 rs1590627373	450	V>G		No	ClinGen Ensembl
rs764062754 CA6028827	450	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1437718463 CA380621764	453	V>M		No	ClinGen gnomAD
TCGA novel	456	A>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380621784 rs1254894923	456	A>T		No	ClinGen gnomAD
CA6028846 rs761823525	458	D>N		No	ClinGen ExAC gnomAD
CA6028848 rs149205594	460	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758306394 CA380621822	461	F>L		No	ClinGen ExAC TOPMed gnomAD
rs766252350 CA6028850	462	V>G		No	ClinGen ExAC gnomAD
CA380621825 rs1172492679	462	V>L		No	ClinGen TOPMed
CA6028851 rs751283839	466	E>D		No	ClinGen ExAC TOPMed gnomAD
CA6028853 rs780754440	467	S>R		No	ClinGen ExAC gnomAD
rs1048756943 CA222818740	468	R>Q		No	ClinGen Ensembl
CA6028854 rs747549663	468	R>W		No	ClinGen ExAC gnomAD
rs1439602692 CA380621890	470	A>T		No	ClinGen gnomAD
rs1300777048 CA380621896	470	A>V		No	ClinGen gnomAD
CA6028860 rs772486219	471	R>W		No	ClinGen ExAC TOPMed
rs1271089384 CA380621916	472	G>R		No	ClinGen gnomAD
CA380621919 rs1271089384	472	G>W		No	ClinGen gnomAD
rs773292133	473	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773292133	473	V>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA380621934 rs1194577557	473	V>G		No	ClinGen TOPMed gnomAD
CA222818796 rs1001985966	473	V>L		No	ClinGen Ensembl
CA380621938 rs1275660513	474	R>*		No	ClinGen gnomAD
CA380621941 rs1468945415	474	R>Q		No	ClinGen TOPMed gnomAD
CA6028864 rs559665798	479	W>*		No	ClinGen 1000Genomes ExAC gnomAD
rs151003082 COSM2036700 CA222818816 COSM193220	480	R>C	Variant assessed as Somatic; 0.0 impact. pancreas large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA380622027 rs1372225449	480	R>H		No	ClinGen gnomAD
rs139961424 CA6028865	481	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380622047 rs1565122036	482	L>F		No	ClinGen Ensembl
rs769961709 CA6028866	483	R>C		No	ClinGen ExAC TOPMed gnomAD
rs769961709 CA222818871	483	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1460442367 CA380622064 COSM252875	483	R>H	ovary [Cosmic]	No	ClinGen cosmic curated gnomAD
CA380622066 rs1323267189	484	A>T		No	ClinGen gnomAD
rs762970518 CA6028868	485	S>*		No	ClinGen ExAC TOPMed gnomAD
rs762970518 CA380622089	485	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6028870 rs751243477	486	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs143205321 CA222818934	487	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143205321 CA380622106	487	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6028873 rs143205321 COSM1268003 COSM1268002	487	R>Q	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs755673085 CA6028874	488	L>P		No	ClinGen ExAC TOPMed gnomAD
rs755673085 CA222818936	488	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA6028876 rs557842198	489	T>I		No	ClinGen ExAC TOPMed gnomAD
CA380622120 rs376317499	489	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs376317499 CA6028875	489	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA6028877 rs758840508	490	V>G		No	ClinGen ExAC
rs1328330720 CA380622131	490	V>L		No	ClinGen TOPMed gnomAD
CA380622126 rs1328330720	490	V>M		No	ClinGen TOPMed gnomAD
rs780482310 CA6028878	491	W>*		No	ClinGen ExAC gnomAD
rs1189855790 CA380622148	491	W>C		No	ClinGen TOPMed gnomAD
rs1474813918 CA380622164	493	P>A		No	ClinGen TOPMed gnomAD
CA380622169 rs1450543561	493	P>L		No	ClinGen TOPMed gnomAD
CA380622166 rs1474813918	493	P>S		No	ClinGen TOPMed gnomAD
rs1365023416 CA380622178	494	L>V		No	ClinGen gnomAD
rs768955554 CA6028880	495	L>V		No	ClinGen ExAC gnomAD
rs1315116635 CA380622222	498	R>C		No	ClinGen TOPMed gnomAD
rs770054621 CA380622225	498	R>H		No	ClinGen ExAC TOPMed gnomAD
CA6028883 rs770054621	498	R>L		No	ClinGen ExAC TOPMed gnomAD
rs966208833 CA222818979	499	I>F		No	ClinGen TOPMed gnomAD
CA380622248 CA380622250 rs1260331100	500	E>D		No	ClinGen gnomAD
rs1239922520 CA380622244	500	E>G		No	ClinGen gnomAD
rs762987115 CA6028885	500	E>K		No	ClinGen ExAC gnomAD
rs753103512 CA6028886	501	L>F		No	ClinGen ExAC TOPMed gnomAD
rs774213722 CA6028887	501	L>P		No	ClinGen ExAC gnomAD
CA380622264 rs1451014381	502	T>A		No	ClinGen gnomAD
CA6028889 rs767309456	503	D>N		No	ClinGen ExAC TOPMed gnomAD
CA6028892 rs763603143	507	E>G		No	ClinGen ExAC gnomAD
CA222819086 rs953558337	507	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA222819068 rs953558337	507	E>Q		No	ClinGen TOPMed
rs1436132098 CA380622341	508	Q>E		No	ClinGen gnomAD
CA380622361 rs1565122181	509	V>A		No	ClinGen Ensembl
rs753291593 CA6028893	510	R>P		No	ClinGen ExAC gnomAD
CA380622379 rs1376217030	511	G>C		No	ClinGen TOPMed gnomAD
rs1376217030 CA380622377	511	G>S		No	ClinGen TOPMed gnomAD
CA380622388 rs1306325364	512	W>*		No	ClinGen gnomAD
rs1590628773 CA380622392	513	R>G		No	ClinGen Ensembl
rs1590628785 CA380622402	514	V>G		No	ClinGen Ensembl
rs1026377759 CA222819137	514	V>I		No	ClinGen TOPMed gnomAD
rs1026377759 CA380622400	514	V>L		No	ClinGen TOPMed gnomAD
rs1346849448 CA380622409	515	P>L		No	ClinGen gnomAD
CA380622420 rs1252882565	517	P>R		No	ClinGen gnomAD
rs1207799553 CA380622418	517	P>S		No	ClinGen gnomAD
rs1243738943 CA380622426	518	A>G		No	ClinGen TOPMed
rs1480890031 CA380622438	520	G>R		No	ClinGen gnomAD
rs200558903 CA6028913	522	A>E		No	ClinGen ExAC TOPMed gnomAD
rs199507865 CA6028912	522	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200558903 CA380622463	522	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1233846634 CA380622476	524	P>R		No	ClinGen gnomAD
CA6028915 rs564634397	525	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564634397 CA6028914	525	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1319413319 CA380622485	526	A>E		No	ClinGen gnomAD
CA380622501 rs1217494791	528	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA380622517 rs1193341299	531	E>*		No	ClinGen gnomAD
CA6028919 rs756424039	532	A>D		No	ClinGen ExAC gnomAD
rs1166289557 CA380622525	532	A>P		No	ClinGen TOPMed gnomAD
rs1166289557 CA380622524	532	A>T		No	ClinGen TOPMed gnomAD
CA6028920 rs778097978	533	E>K		No	ClinGen ExAC gnomAD
TCGA novel	533	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380622544 rs1346057119	535	R>H		No	ClinGen gnomAD
TCGA novel	535	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs933605439 CA222819843	536	A>T		No	ClinGen TOPMed gnomAD
rs1357154159 CA380622551	536	A>V		No	ClinGen gnomAD
rs757327072 CA6028922	537	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757327072 CA6028923	537	R>G		No	ClinGen ExAC TOPMed gnomAD
rs745800503 CA6028924	537	R>H		No	ClinGen ExAC gnomAD
rs886633465 CA222819881	540	H>Y		No	ClinGen TOPMed gnomAD
CA380622583 rs1225006241	542	Q>*		No	ClinGen gnomAD
CA6028925 rs771991959	543	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1322446547 CA380622591	543	Y>H		No	ClinGen gnomAD
rs775289860 CA380622606	545	R>P		No	ClinGen ExAC TOPMed gnomAD
rs775289860 CA6028926	545	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA380622618 rs1486896638	547	G>D		No	ClinGen gnomAD
CA6028928 rs547223000	547	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380622627 rs1189250164	549	R>C		No	ClinGen gnomAD
CA380622641 rs1177540056	551	L>F		No	ClinGen TOPMed
rs1192386768 CA380622645	552	A>S		No	ClinGen TOPMed gnomAD
rs1192386768 CA380622647	552	A>T		No	ClinGen TOPMed gnomAD
CA222819914 rs966375456	552	A>V		No	ClinGen TOPMed gnomAD
rs776316834 CA6028929	553	P>R		No	ClinGen ExAC TOPMed gnomAD
CA380622662 rs761514858	554	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1408834876 CA380622659	554	F>S		No	ClinGen gnomAD
rs1035714565 CA222819915	555	A>T		No	ClinGen TOPMed gnomAD
rs764720498 CA6028931	555	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1333407870 CA380622671	556	A>G		No	ClinGen gnomAD
rs1333407870 CA380622672	556	A>V		No	ClinGen gnomAD
CA222819916 rs938500642	557	H>L		No	ClinGen Ensembl
rs1243552066 CA380622685	558	P>L		No	ClinGen TOPMed
rs1243552066 CA380622684	558	P>R		No	ClinGen TOPMed
rs1338584846 CA380622682	558	P>S		No	ClinGen gnomAD
rs759972722 CA6028933	561	G>D		No	ClinGen ExAC gnomAD
CA380622712 rs1305251863	563	R>C		No	ClinGen gnomAD
rs768015252 CA6028934	563	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753138990 CA6028935	564	R>C		No	ClinGen ExAC TOPMed gnomAD
rs753138990 CA6028936	564	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1219157753 CA380622728	566	T>K		No	ClinGen Ensembl
COSM1735024 COSM1735025 rs1219157753 CA380622730	566	T>M	pancreas [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1054619116 CA222819941	569	L>F		No	ClinGen TOPMed gnomAD
CA6028937 rs764528103	569	L>P		No	ClinGen ExAC TOPMed gnomAD
CA380622756 rs1176991599	571	P>S		No	ClinGen gnomAD
CA6028939 rs757436013	572	D>N		No	ClinGen ExAC gnomAD
rs778876123 CA380622792	576	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	577	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	579	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6028942 rs758298737	580	L>F		No	ClinGen ExAC TOPMed gnomAD
rs547912250 CA380622819	581	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6028945 rs547912250	581	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380622828 rs780959256	582	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6028946 rs780959256	582	A>V		No	ClinGen ExAC TOPMed gnomAD
CA380622830 rs1233140082	583	P>A		No	ClinGen gnomAD
CA222820043 rs968576380	583	P>L		No	ClinGen TOPMed gnomAD
CA380622840 rs747759500	584	H>Q		No	ClinGen ExAC gnomAD
CA222820056 rs1048231078	584	H>Y		No	ClinGen Ensembl
rs1216829240 CA380622847	586	R>C		No	ClinGen TOPMed gnomAD
CA6028948 rs769429539	586	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6028950 rs762480999	587	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6028952 rs199985864	588	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761248018 CA6028953	590	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	591	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6028956 rs754199967	591	R>H		No	ClinGen ExAC TOPMed gnomAD
rs754199967 CA6028955	591	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6028954 rs140313442	591	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380622877 rs1291151064	592	V>I		No	ClinGen TOPMed
rs1168404773 CA380622888	593	A>V		No	ClinGen gnomAD
rs765463288 CA6028957	595	L>R		No	ClinGen ExAC gnomAD
rs1327275129 CA380622902	596	E>G		No	ClinGen gnomAD
CA6028958 rs373929510	596	E>K		No	ClinGen ESP ExAC gnomAD
CA380622900 rs373929510	596	E>Q		No	ClinGen ESP ExAC gnomAD
CA6028959 rs758555030	597	G>D		No	ClinGen ExAC gnomAD
rs150311425 CA6028960	598	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	598	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380622918 rs1321256231	599	R>C		No	ClinGen gnomAD
CA6028961 rs751566861	599	R>H		No	ClinGen ExAC gnomAD
CA6028962 rs754840733	601	V>L		No	ClinGen ExAC TOPMed gnomAD
rs754840733 CA6028963	601	V>M		No	ClinGen ExAC TOPMed gnomAD
CA6028964 rs747927683	602	V>A		No	ClinGen ExAC gnomAD
CA6028965 rs769358631	604	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1013475511 CA222820191	605	E>D		No	ClinGen TOPMed
CA6028966 rs777518210	605	E>K		No	ClinGen ExAC gnomAD
CA380622960 rs1335624739	607	G>C		No	ClinGen gnomAD
CA380622958 rs1335624739	607	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA222820197 rs377580866	609	T>I		No	ClinGen ESP gnomAD
rs770620791 CA6028968	611	I>T		No	ClinGen ExAC
rs1448486882 CA380622983	611	I>V		No	ClinGen gnomAD
rs1193582148	612	E>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs756914665 CA6028988	614	R>C		No	ClinGen ExAC TOPMed gnomAD
rs78788109 CA6028989	614	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756914665 CA380623905	614	R>S		No	ClinGen ExAC TOPMed gnomAD
CA222820671 rs144812979 COSM110409	615	S>F	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA6028991 rs771681638	617	L>P		No	ClinGen ExAC gnomAD
CA380623954 rs1310593811	619	D>V		No	ClinGen gnomAD
rs1337618277 CA380623979	621	I>T		No	ClinGen gnomAD
CA6028993 rs748590170	622	L>P		No	ClinGen ExAC TOPMed
rs1351210133 CA380624008	624	E>K		No	ClinGen gnomAD
rs371074568 CA6028995 COSM929333 COSM1585853	626	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1198663285 CA380624077	629	V>G		No	ClinGen gnomAD
rs763174302 CA380624090	630	T>K		No	ClinGen ExAC TOPMed gnomAD
rs763174302 CA6028996	630	T>M		No	ClinGen ExAC TOPMed gnomAD
rs763174302 CA380624092	630	T>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	630	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759648087 CA380624108	631	D>E		No	ClinGen ExAC TOPMed gnomAD
CA380624097 rs1177597371	631	D>H		No	ClinGen gnomAD
rs774445474 CA6028998	631	D>V		No	ClinGen ExAC gnomAD
rs767469363 CA6029000	632	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1166586851 CA380624138	633	K>N		No	ClinGen TOPMed
CA380624126 rs1396324304	633	K>Q		No	ClinGen TOPMed
CA380624134 rs1378587520	633	K>R		No	ClinGen gnomAD
rs1467499506 CA380624142	634	V>I		No	ClinGen TOPMed
CA6029001 rs752735203	636	V>M		No	ClinGen ExAC gnomAD
rs1301674756 CA380624180	637	L>P		No	ClinGen gnomAD
CA380624190 rs1447679811	638	E>*		No	ClinGen gnomAD
CA380624238 rs1590630570	641	V>G		No	ClinGen Ensembl
rs370877938 CA222820791	641	V>L		No	ClinGen ESP TOPMed gnomAD
rs370877938 CA222820789 COSM1191927 COSM1191928	641	V>M	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP TOPMed gnomAD
CA380624246 rs1236803197	642	Q>P		No	ClinGen gnomAD
CA222820829 rs145819088	645	M>T		No	ClinGen ESP
rs1301632088 CA380624283	646	G>D		No	ClinGen gnomAD
rs753641264 CA222820835	647	I>M		No	ClinGen ExAC gnomAD
COSM1355156 rs566743806 COSM1355155 CA6029005	648	S>L	large_intestine Variant assessed as Somatic; 4.776e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA380624331 COSM1134430 COSM458503 rs758040483	651	L>F	cervix [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA380624337 rs1235853465	652	S>G		No	ClinGen gnomAD
rs1262234016 CA380624340	652	S>N		No	ClinGen TOPMed
CA6029010 rs748695277	653	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779426844 CA6029009	653	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA222820874 rs1016622941	656	A>P		No	ClinGen TOPMed
CA6029012 rs773646537	657	H>P		No	ClinGen ExAC gnomAD
CA6029014 rs535352288	659	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA380624432 rs1375331456	660	E>K		No	ClinGen gnomAD
CA380624466 rs1303224038	662	T>I		No	ClinGen gnomAD
CA380624472 rs1170002161	663	A>T		No	ClinGen gnomAD
CA6029015 rs774600588	664	T>M		No	ClinGen ExAC TOPMed gnomAD
CA380624517 rs1366613368	666	W>*		No	ClinGen gnomAD
CA6029017 rs767699902	666	W>*		No	ClinGen ExAC gnomAD
CA380624519 rs1384898907	667	A>T		No	ClinGen gnomAD
rs1297494889 CA380624530	667	A>V		No	ClinGen gnomAD
CA222820949 rs959215421	670	A>P		No	ClinGen TOPMed
CA6029019 rs760686912	671	L>F		No	ClinGen ExAC TOPMed gnomAD
CA6029020 rs760686912	671	L>V		No	ClinGen ExAC TOPMed gnomAD
CA6029023 rs765110880	673	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6029024 rs750168418	674	P>L		No	ClinGen ExAC gnomAD
rs1444576847 CA380624756	679	A>D		No	ClinGen gnomAD
rs1284353356 CA380624751	679	A>P		No	ClinGen TOPMed gnomAD
rs1284353356 CA380624749	679	A>T		No	ClinGen TOPMed gnomAD
CA380624754 rs1444576847	679	A>V		No	ClinGen gnomAD
TCGA novel	681	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA222821402 rs770527791	683	W>C		No	ClinGen Ensembl
rs886847342 CA222821392	683	W>R		No	ClinGen TOPMed gnomAD
CA380624823 rs1439879211	685	S>C		No	ClinGen TOPMed
TCGA novel	685	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1402218717 CA380624836	686	F>S		No	ClinGen TOPMed
rs1590631265 CA380624889	690	T>P		No	ClinGen Ensembl
rs143829920 CA6029051	691	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs772451903 CA6029052	694	A>T		No	ClinGen ExAC gnomAD
rs780190516 CA6029053	694	A>V		No	ClinGen ExAC gnomAD
CA6029054 rs747242321	695	E>K		No	ClinGen ExAC gnomAD
CA6029055 rs551683496	697	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs769808158 CA6029058	698	D>A		No	ClinGen ExAC gnomAD
rs761858942 CA380624984	698	D>H		No	ClinGen ExAC TOPMed gnomAD
CA6029057 rs761858942	698	D>N		No	ClinGen ExAC TOPMed gnomAD
rs773170460 CA6029059	699	R>C		No	ClinGen ExAC gnomAD
rs524523 CA6029060 VAR_032262	699	R>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs524523 CA6029061	699	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA222821467 rs524523	699	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751223402 CA6029062	700	R>C		No	ClinGen ExAC gnomAD
CA6029063 rs759221912	700	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	700	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA222821489 rs758992751	702	L>Q		No	ClinGen Ensembl
CA380625047 rs1200563433	703	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1310487718 CA380625044	703	G>R		No	ClinGen gnomAD
CA380625056 rs1238894240	704	L>P		No	ClinGen gnomAD
CA380625062 rs1177010890	705	S>F		No	ClinGen gnomAD
rs767018069 CA6029064	705	S>P		No	ClinGen ExAC gnomAD
rs77148561 CA6029066	706	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs377312517 CA6029069	709	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380625118 rs200183082	710	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1170700598 CA380625107	710	E>K		No	ClinGen gnomAD
rs915024749 CA222821552	711	P>A		No	ClinGen Ensembl
CA6029071 rs747204205	712	G>C		No	ClinGen ExAC gnomAD
CA6029072 rs747204205	712	G>R		No	ClinGen ExAC gnomAD
CA222821593 rs942529837	714	I>V		No	ClinGen Ensembl
rs781446423 CA6029073	717	A>D		No	ClinGen ExAC gnomAD
rs1333169472 CA380625203	718	E>G		No	ClinGen gnomAD
rs112215407 CA222821604	718	E>K		No	ClinGen Ensembl
rs1038166989 CA222821637	720	Q>*		No	ClinGen TOPMed
rs866204672 CA222821646	720	Q>H		No	ClinGen TOPMed gnomAD
rs769961319 CA6029075	721	G>C		No	ClinGen ExAC gnomAD
CA380625257 rs1169182799	722	A>V		No	ClinGen gnomAD
rs773068934 CA6029076	723	Q>H		No	ClinGen ExAC gnomAD
rs1405693063 CA380625273	724	L>I		No	ClinGen TOPMed
CA222821661 rs1039552485	724	L>P		No	ClinGen Ensembl
TCGA novel	725	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376877652 CA6029078 CA6029079	725	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA380625291 rs376877652	725	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs759123519 CA6029080	726	V>M		No	ClinGen ExAC gnomAD
TCGA novel	726	V>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380625316 rs1292335591	727	V>L		No	ClinGen gnomAD
CA6029081 rs578062643	729	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs867414328 CA222821683	729	S>R		No	ClinGen gnomAD
CA380625350 rs1478722954	730	G>E		No	ClinGen gnomAD
rs1244776492 CA380625349	730	G>W		No	ClinGen gnomAD
rs1384748595 CA380625355	731	A>T		No	ClinGen gnomAD
CA380625369 rs1463651920	732	G>D		No	ClinGen gnomAD
CA6029083 rs760228679	732	G>R		No	ClinGen ExAC gnomAD
CA6029085 rs750959464	733	A>T		No	ClinGen ExAC gnomAD
rs751905998 CA6029088	734	E>G		No	ClinGen ExAC gnomAD
CA6029087 rs201899054	734	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA380625409 rs1279455798	735	G>W		No	ClinGen gnomAD
rs748355502 CA6029091	736	L>P		No	ClinGen ExAC TOPMed gnomAD
CA6029092 rs756316072	737	P>L		No	ClinGen ExAC gnomAD
TCGA novel	737	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373204064 CA6029093	738	L>R		No	ClinGen ExAC gnomAD
rs749186884 CA6029094	742	L>P		No	ClinGen ExAC gnomAD
CA380625501 rs1262447483	743	H>P		No	ClinGen gnomAD
CA380625502 rs1262447483	743	H>R		No	ClinGen gnomAD
CA380625500 rs1217209787	743	H>Y		No	ClinGen gnomAD
rs780871400 CA6029096	744	P>L		No	ClinGen ExAC TOPMed gnomAD
CA380625521 rs1245025874	746	E>G		No	ClinGen TOPMed
CA6029100 rs760316422	746	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1338518463 CA380625529	747	P>L		No	ClinGen TOPMed
rs763603158 CA6029101	749	R>C		No	ClinGen ExAC gnomAD
CA380625540 rs1364092994	749	R>H		No	ClinGen TOPMed gnomAD
rs574111955 CA6029103	750	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6029102 rs376802659	750	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1381030705 CA380625546	751	G>S		No	ClinGen gnomAD
COSM1197233 rs550430630 CA6029104 COSM1197232	752	R>H	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs751976510 CA6029105	753	H>R		No	ClinGen ExAC gnomAD
COSM458502 COSM1134431 CA6029107 rs760024959	754	R>C	cervix Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767977605 CA6029108	754	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA222821849 rs760024959	754	R>S		No	ClinGen ExAC TOPMed gnomAD
rs756338167 CA6029110	756	P>T		No	ClinGen ExAC gnomAD
rs777728091 CA6029111	758	A>D		No	ClinGen ExAC TOPMed gnomAD
CA380625583 rs1159814721	758	A>T		No	ClinGen TOPMed
CA6029112 rs753905214	759	S>P		No	ClinGen ExAC
rs1487229057 CA380625593	760	G>S		No	ClinGen TOPMed gnomAD
CA6029113 rs757170885	760	G>V		No	ClinGen ExAC gnomAD
CA380625602 rs1256223191	761	T>I		No	ClinGen gnomAD
CA380625605 rs745793728	762	A>S		No	ClinGen ExAC TOPMed gnomAD
CA6029115 rs745793728	762	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA222821905 rs1031395853	762	A>V		No	ClinGen Ensembl
rs1192518612 CA380625635	767	P>H		No	ClinGen Ensembl
CA6029118 rs779758743	767	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1190936180 CA380625642	768	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
TCGA novel	768	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6029119 rs746682344	768	P>S		No	ClinGen ExAC gnomAD
rs1590631781 CA380625655	771	T>P		No	ClinGen Ensembl
CA380625663 rs1305182492	772	P>S		No	ClinGen gnomAD
rs139029396 CA6029121	774	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6029120 rs768309518	774	P>S		No	ClinGen ExAC
rs545580718 CA6029122	775	A>P		No	ClinGen ExAC gnomAD
CA222821983 rs143111374	775	A>V		No	ClinGen ESP TOPMed
rs1590631804 CA380625681	776	L>I		No	ClinGen Ensembl
rs955590225 CA222822013	777	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1379344217 CA380625692	778	S>T		No	ClinGen gnomAD
rs1354098960 CA380625711	780	P>L		No	ClinGen TOPMed
CA380625708 rs1447798519	780	P>S		No	ClinGen gnomAD
CA380625714 rs1308182711	781	A>S		No	ClinGen TOPMed gnomAD
rs1308182711 CA380625712	781	A>T		No	ClinGen TOPMed gnomAD
rs775053550 CA6029124	782	W>*		No	ClinGen ExAC gnomAD
rs775053550 CA6029125	782	W>C		No	ClinGen ExAC gnomAD
rs767994340 CA6029127	783	S>N		No	ClinGen ExAC gnomAD
rs989922014 CA380625730	783	S>R		No	ClinGen gnomAD
rs767994340 CA6029126	783	S>T		No	ClinGen ExAC gnomAD
rs764336392 CA6029129	785	P>Q		No	ClinGen ExAC gnomAD
rs1022376831 CA222822068	789	A>T		No	ClinGen gnomAD
CA6029130 rs753987962	790	T>N		No	ClinGen ExAC gnomAD
CA6029132 rs757417696	791	M>R		No	ClinGen ExAC
CA380625775 rs757417696	791	M>T		No	ClinGen ExAC
rs1237952492 CA380625788	793	G>D		No	ClinGen gnomAD
rs778855376 CA6029133	793	G>S		No	ClinGen ExAC gnomAD
rs758277226 CA6029135	795	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750366214 CA6029134	795	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1398335908 CA380625813	797	V>E		No	ClinGen TOPMed
CA222822124 rs982724033	798	A>T		No	ClinGen Ensembl
CA6029136 rs779850976	799	G>S		No	ClinGen ExAC gnomAD
rs780944372 CA380625842	802	G>A		No	ClinGen ExAC gnomAD
rs780944372 CA6029139	802	G>E		No	ClinGen ExAC gnomAD
CA6029138 rs201227499	802	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6029140 rs747741003	804	N>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	805	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769409098 CA6029141	805	T>R		No	ClinGen ExAC gnomAD
rs772777798 CA6029142 COSM543951 COSM1139833	806	G>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs760133380 CA6029143	806	G>V		No	ClinGen ExAC TOPMed gnomAD
CA380625868 rs1590631940	807	V>G		No	ClinGen Ensembl
rs372550871 CA222822151	807	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA380625871 rs1590631946	808	R>G		No	ClinGen Ensembl
rs772657298 CA6029144	808	R>K		No	ClinGen ExAC TOPMed gnomAD
CA6029145 rs776027069	809	G>D		No	ClinGen ExAC gnomAD
rs1197588520 CA380625905	812	E>D		No	ClinGen gnomAD
CA380625898 rs1318083452	812	E>K		No	ClinGen gnomAD
rs764353563 CA6029147	813	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1249310023 CA380625907	813	R>W		No	ClinGen TOPMed gnomAD
rs1335898364 CA380625924	816	E>K		No	ClinGen TOPMed gnomAD
CA6029149 rs370429701	817	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA380625932 rs1268498910	817	E>K		No	ClinGen gnomAD
CA380625941 rs1269363267	818	A>T		No	ClinGen TOPMed
CA6029151 rs574921278	819	R>T		No	ClinGen 1000Genomes ExAC gnomAD
CA380625959 rs1170206985	821	E>K		No	ClinGen gnomAD
rs766347094 CA6029154	823	T>N		No	ClinGen ExAC TOPMed gnomAD
rs766347094 CA380625978	823	T>S		No	ClinGen ExAC TOPMed gnomAD
CA380625980 rs55920775	824	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6029157 rs55920775	824	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380625981 rs55920775	824	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1403025712 CA380625987	825	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA380626005 rs1435828696	827	E>D		No	ClinGen TOPMed
CA6029160 rs747836495	827	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1340573962 CA380626008	828	E>K		No	ClinGen gnomAD
rs368594602 CA6029163	831	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA6029164 rs368594602	831	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA222822308 rs906717734	832	E>*		No	ClinGen TOPMed gnomAD
rs906717734 CA380626038	832	E>K		No	ClinGen TOPMed gnomAD
rs563891631 CA222822310	833	E>K		No	ClinGen 1000Genomes
rs1490307412 CA380626055	834	E>G		No	ClinGen gnomAD
CA380626051 rs1329660095	834	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1266031665 CA380626065	835	E>D		No	ClinGen gnomAD
CA6029170 rs139210234	836	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769069898 CA6029169	836	M>T		No	ClinGen ExAC gnomAD
rs144025770 CA6029168	836	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs372120647 CA6029171	838	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1165839752 CA380626086	839	A>S		No	ClinGen gnomAD
rs765407670 CA6029172	840	P>L		No	ClinGen ExAC gnomAD
CA222822354 rs902152838	842	H>Y		No	ClinGen TOPMed
CA380626139 rs1399328160	847	E>G		No	ClinGen gnomAD
rs766430879 CA6029175	847	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1022283105 CA222822383	848	L>M		No	ClinGen Ensembl
rs1286550885 CA380626143	848	L>Q		No	ClinGen gnomAD
rs1380782118 CA380626150	849	G>A		No	ClinGen gnomAD
rs1380782118 CA380626149	849	G>V		No	ClinGen gnomAD
CA6029177 rs539899026	850	M>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6029176 rs539899026	850	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146666776 CA6029179	852	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA6029181 rs375052472	854	L>M		No	ClinGen ESP ExAC gnomAD
CA6029182 rs748925628	856	V>I		No	ClinGen ExAC gnomAD
CA6029183 rs142571833	857	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380626203 rs1484302406	858	C>S		No	ClinGen TOPMed gnomAD
rs61755079 CA6029187 CA6029186	859	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61755079 CA6029185	859	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1443044631 CA380626210	860	A>T		No	ClinGen gnomAD
CA380626215 rs1565124035	860	A>V		No	ClinGen Ensembl
CA6029188 rs748506136	863	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1160167102 CA380626235	863	I>N		No	ClinGen gnomAD
CA380626240 rs1156916775	864	F>S		No	ClinGen gnomAD
rs770124574 CA6029189	864	F>V		No	ClinGen ExAC TOPMed gnomAD
CA6029190 rs773485201	867	N>S		No	ClinGen ExAC gnomAD
CA380626266 rs1175438152	868	G>S		No	ClinGen gnomAD
CA6029191 rs763154151	871	F>S		No	ClinGen ExAC gnomAD
rs569159831 CA6029192	872	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1357220529 CA380626320	873	L>P		No	ClinGen gnomAD
COSM1492640 CA6029194 rs200530505 COSM1492639	874	R>C	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA6029195 rs767316275	874	R>H		No	ClinGen ExAC gnomAD
rs752649323 CA6029196	875	Y>C		No	ClinGen ExAC gnomAD
rs959518440 CA222822566	875	Y>H		No	ClinGen TOPMed
CA6029197 rs760593541 COSM1298268 COSM1298267	876	Q>*	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA380626345 COSM1139834 rs760593541 COSM543950	876	Q>E	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA380626361 rs1314490080	877	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1355161 CA222822625 rs140765233 COSM1355162	877	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs140765233 CA222822632	877	R>L		No	ClinGen ESP TOPMed gnomAD
rs1460103480 CA380626402	880	P>L		No	ClinGen gnomAD
rs778508543 CA6029201	881	P>H		No	ClinGen ExAC gnomAD
CA380626432 rs1427116072	882	D>E		No	ClinGen gnomAD
CA222822661 rs377697796	882	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA6029203 rs377697796	882	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA380626448 rs1440041885	884	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1414997622 CA380626459	884	A>V		No	ClinGen gnomAD
rs1565124123 CA380626463	885	T>A		No	ClinGen Ensembl
rs949129968 CA222822706	888	T>N		No	ClinGen TOPMed
CA380626496 rs1590632407	888	T>P		No	ClinGen Ensembl
rs1466862406 CA380626514	889	S>F		No	ClinGen gnomAD
rs939532417 CA222822733	890	P>L		No	ClinGen TOPMed gnomAD
rs551776907 CA6029205	890	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA6029206 rs770208171	891	Q>K		No	ClinGen ExAC gnomAD
CA380626526 rs1370275173	891	Q>R		No	ClinGen gnomAD
CA380626539 rs1262574799	892	P>H		No	ClinGen TOPMed gnomAD
rs150465123 CA6029207	892	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749521889 CA6029208	894	N>S		No	ClinGen ExAC gnomAD
CA380626587 rs771089288	896	V>F		No	ClinGen ExAC gnomAD
rs771089288 CA6029209	896	V>I		No	ClinGen ExAC gnomAD
rs112750955 CA6029211	897	W>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6029210 rs112750955	897	W>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA380626599 rs1223196739	897	W>L		No	ClinGen TOPMed gnomAD
TCGA novel	898	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6029212 rs772167576	899	G>D		No	ClinGen ExAC TOPMed gnomAD
CA222822794 rs1043682572	900	T>S		No	ClinGen Ensembl
rs1179343837 CA380626638	901	D>G		No	ClinGen gnomAD
CA380626658 rs1478280031	903	E>K		No	ClinGen gnomAD
CA380626689 rs1426556559	905	L>P		No	ClinGen gnomAD
rs1478546285 CA380626699	906	S>N		No	ClinGen gnomAD
CA6029213 rs775346044	907	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760624125 CA6029214	907	R>H		No	ClinGen ExAC TOPMed gnomAD
CA380626733 rs1327203230	910	D>N		No	ClinGen gnomAD
CA6029217 COSM193221 rs142666359	911	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs567568649 CA6029216	911	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA380626756 rs1160415113	912	Q>P		No	ClinGen TOPMed
CA6029218 rs764841359	914	P>L		No	ClinGen ExAC TOPMed gnomAD
CA6029219 rs372456749	916	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA6029220 rs372456749	916	P>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs753203887 CA6029222	917	P>R		No	ClinGen ExAC TOPMed gnomAD
CA380626820 rs1194305269	919	G>A		No	ClinGen gnomAD
CA380626819 rs1194305269	919	G>E		No	ClinGen gnomAD
CA6029223 rs756552592	919	G>R		No	ClinGen ExAC TOPMed gnomAD
CA6029224 rs756552592	919	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1565124240 CA380626825	920	E>*		No	ClinGen Ensembl
CA6029225 rs749611262	920	E>G		No	ClinGen ExAC gnomAD
rs771253101 CA6029226	921	G>R		No	ClinGen ExAC TOPMed gnomAD
CA380626843 rs1489249006	922	S>G		No	ClinGen gnomAD
CA6029227 rs779053611	922	S>T		No	ClinGen ExAC
rs746088871 CA6029228	927	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1354962449 CA380626902	927	S>R		No	ClinGen TOPMed
CA6029231 rs746965529	928	G>A		No	ClinGen ExAC gnomAD
CA6029230 CA6029229 rs545267277	928	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	928	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA222822959 rs545267277	928	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1226949801 CA380626920	930	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA222822975 rs915540969	932	E>D		No	ClinGen TOPMed gnomAD
CA380626934 rs1422739449	932	E>K		No	ClinGen gnomAD
rs768676365 CA6029232	933	A>D		No	ClinGen ExAC gnomAD
rs1284390087 CA380626945	933	A>T		No	ClinGen TOPMed
CA380626949 rs768676365	933	A>V		No	ClinGen ExAC gnomAD
rs1302946393 CA380626952	934	P>S		No	ClinGen gnomAD
CA380626961 rs776682204	935	T>I		No	ClinGen ExAC TOPMed gnomAD
rs776682204 CA6029233	935	T>N		No	ClinGen ExAC TOPMed gnomAD
CA6029235 rs200803302	937	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6029238 rs199588097	939	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762597307 CA6029237	939	G>S		No	ClinGen ExAC gnomAD
CA6029239 rs201654663	940	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756642343 CA6029240	942	G>A		No	ClinGen ExAC gnomAD
rs1217326969 CA380627028	943	G>A		No	ClinGen TOPMed gnomAD
rs1217326969 CA380627027	943	G>D		No	ClinGen TOPMed gnomAD
CA6029242 rs559986342	944	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552864241 CA222822994	948	S>L		No	ClinGen TOPMed
CA380627082 rs1444818216	949	S>N		No	ClinGen gnomAD
CA6029243 rs199829020	949	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs200710128 CA6029244	950	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA6029245 rs746092283	952	A>G		No	ClinGen ExAC TOPMed gnomAD
CA6029246 rs529138358	953	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs529138358 CA380627105	953	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6029247 rs780314026	953	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA6029248 rs747127032	954	K>R		No	ClinGen ExAC gnomAD
rs768837760 CA6029249	955	E>K		No	ClinGen ExAC gnomAD
CA380627141 rs1380557396	956	A>V		No	ClinGen gnomAD
rs772318100	959	R>G	Variant assessed as Somatic; 5.164e-05 impact. [NCI-TCGA]	No	NCI-TCGA
CA6029253 rs146870859	959	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776770040 CA6029252	959	R>W		No	ClinGen ExAC TOPMed gnomAD
rs769485081 CA6029254	960	R>Q		No	ClinGen ExAC gnomAD
rs900125822 CA222823050	960	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs772998053 CA380627181	962	R>*		No	ClinGen ExAC TOPMed gnomAD
rs772998053 CA6029255	962	R>G		No	ClinGen ExAC TOPMed gnomAD
CA222823063 rs762531068	962	R>L		No	ClinGen ExAC TOPMed gnomAD
rs762531068 CA6029256	962	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766013390 CA6029257	964	E>D		No	ClinGen ExAC TOPMed gnomAD
CA380627197 rs1460553208	964	E>Q		No	ClinGen gnomAD
rs1183014587 CA380627221	966	V>A		No	ClinGen gnomAD
rs1441986862 CA380627216	966	V>M		No	ClinGen gnomAD
CA380627225 rs766999601	967	T>A		No	ClinGen ExAC gnomAD
CA6029260 rs766999601	967	T>S		No	ClinGen ExAC gnomAD
CA380627233 rs1174332274	968	F>L		No	ClinGen gnomAD
CA6029261 rs754408893	969	A>P		No	ClinGen ExAC gnomAD
rs2469887 VAR_032263 CA6029262	969	A>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs369062159 CA6029264	970	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA380627253 rs1378805968	970	P>T		No	ClinGen gnomAD
rs1306061315 CA380627263	971	A>T		No	ClinGen gnomAD
rs758660500 CA6029265	971	A>V		No	ClinGen ExAC gnomAD
CA380627294 rs1429178320	973	P>R		No	ClinGen TOPMed
CA380627307 rs1263201297	974	A>V		No	ClinGen gnomAD
TCGA novel	975	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780475521 CA6029266	976	S>L		No	ClinGen ExAC TOPMed gnomAD
CA380627345 rs1480774806	977	P>L		No	ClinGen gnomAD
rs1480774806 CA380627344	977	P>R		No	ClinGen gnomAD
rs149340923 CA222823113	977	P>S		No	ClinGen ESP ExAC gnomAD
rs149340923 CA6029267	977	P>T		No	ClinGen ESP ExAC gnomAD
CA6029268 rs755179853	978	E>K		No	ClinGen ExAC TOPMed gnomAD
CA222823114 rs962865465	979	E>G		No	ClinGen Ensembl
CA6029270 rs748046134	979	E>K		No	ClinGen ExAC gnomAD
rs368469604 CA6029271	980	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1430040661 CA380627384	981	V>I		No	ClinGen TOPMed gnomAD
TCGA novel	982	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA380627407 rs1565124516	983	A>S		No	ClinGen Ensembl
rs777458323 CA6029273	984	P>A		No	ClinGen ExAC gnomAD
CA6029274 rs749145764	985	A>P		No	ClinGen ExAC gnomAD
CA380627416 rs749145764	985	A>T		No	ClinGen ExAC gnomAD
rs770609330 CA6029275	986	V>M		No	ClinGen ExAC gnomAD
rs148123295 CA6029279	991	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA6029278 rs148123295	991	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1388439751 CA380627465	993	G>D		No	ClinGen gnomAD
CA6029280 rs774933451	993	G>R		No	ClinGen ExAC gnomAD
rs750873342 CA6029283	994	E>G		No	ClinGen ExAC gnomAD
CA222823176 rs878967572	994	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1590633030 CA380627478	995	E>G		No	ClinGen Ensembl
CA380627482 rs1307663513	996	D>N		No	ClinGen gnomAD
CA6029286 rs368115669	998	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755198034 CA6029287	998	R>H		No	ClinGen ExAC TOPMed gnomAD
rs755198034 CA222823190	998	R>L		No	ClinGen ExAC TOPMed gnomAD
CA6029288 rs781440243	999	W>*		No	ClinGen ExAC gnomAD
CA222823192 rs981090709	999	W>G		No	ClinGen Ensembl
CA380627511 rs1590633080	1000	V>G		No	ClinGen Ensembl
rs777821101 CA6029289	1000	V>M		No	ClinGen ExAC gnomAD
CA6029291 rs777812544	1004	M>I		No	ClinGen ExAC gnomAD
CA222823245 rs1048405120	1006	L>P		No	ClinGen TOPMed
rs1429319213 CA380627593	1012	L>V		No	ClinGen gnomAD
COSM264080 COSM1229520 CA6029292 rs749168270	1013	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs373138456 CA6029293	1013	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA380627599 rs749168270	1013	R>S		No	ClinGen ExAC TOPMed gnomAD
CA6029294 rs778611921	1018	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1435482957 CA380627647	1019	I>M		No	ClinGen TOPMed
CA380627649 rs1364819356	1020	R>G		No	ClinGen TOPMed gnomAD
CA6029296 rs376130640	1020	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA6029295 rs376130640	1020	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1364819356 CA380627648	1020	R>W		No	ClinGen TOPMed gnomAD
rs979607035 CA222823309	1021	G>D		No	ClinGen TOPMed gnomAD
CA380627651 rs1299485635	1021	G>S		No	ClinGen gnomAD
rs760284043 CA6029298	1024	S>L		No	ClinGen ExAC gnomAD
CA380627673 rs760284043	1024	S>S		No	ClinGen ExAC gnomAD

No associated diseases with Q24JP5

3 regional properties for Q24JP5

Type	Name	Position	InterPro Accession
domain	Transmembrane protein TMEM132, N-terminal	50 - 167	IPR031435
domain	Transmembrane protein TMEM132, C-terminal	821 - 902	IPR031436
domain	Transmembrane protein family 132, middle domain	407 - 749	IPR031437

Functions

		Description
EC Number
Subcellular Localization	Golgi apparatus membrane ; Single-pass type I membrane protein Endoplasmic reticulum membrane ; Single-pass type I membrane protein
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 lumen	The volume enclosed by the membranes of the endoplasmic reticulum.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
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.

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

5 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6IEE7	TMEM132E	Transmembrane protein 132E	Homo sapiens (Human)	PR
Q14C87	TMEM132D	Transmembrane protein 132D	Homo sapiens (Human)	PR
Q6IEE6	Tmem132e	Transmembrane protein 132E	Mus musculus (Mouse)	PR
Q922P8	Tmem132a	Transmembrane protein 132A	Mus musculus (Mouse)	PR
Q80WF4	Tmem132a	Transmembrane protein 132A	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MCARMAGRTT	AAPRGPYGPW	LCLLVALALD	VVRVDCGQAP	LDPVYLPAAL	ELLDAPEHFR
70	80	90	100	110	120
VQQVGHYPPA	NSSLSSRSET	FLLLQPWPRA	QPLLRASYPP	FATQQVVPPR	VTEPHQRPVP
130	140	150	160	170	180
WDVRAVSVEA	AVTPAEPYAR	VLFHLKGQDW	PPGSGSLPCA	RLHATHPAGT	AHQACRFQPS
190	200	210	220	230	240
LGACVVELEL	PSHWFSQAST	TRAELAYTLE	PAAEGPGGCG	SGEENDPGEQ	ALPVGGVELR
250	260	270	280	290	300
PADPPQYQEV	PLDEAVTLRV	PDMPVRPGQL	FSATLLLRHN	FTASLLTLRI	KVKKGLHVTA
310	320	330	340	350	360
ARPAQPTLWT	AKLDRFKGSR	HHTTLITCHR	AGLTEPDSSP	LELSEFLWVD	FVVENSTGGG
370	380	390	400	410	420
VAVTRPVTWQ	LEYPGQAPEA	EKDKMVWEIL	VSERDIRALI	PLAKAEELVN	TAPLTGVPQH
430	440	450	460	470	480
VPVRLVTVDG	GGALVEVTEH	VGCESANTQV	LQVSEACDAV	FVAGKESRGA	RGVRVDFWWR
490	500	510	520	530	540
RLRASLRLTV	WAPLLPLRIE	LTDTTLEQVR	GWRVPGPAEG	PAEPAAEASD	EAERRARGCH
550	560	570	580	590	600
LQYQRAGVRF	LAPFAAHPLD	GGRRLTHLLG	PDWLLDVSHL	VAPHARVLDS	RVASLEGGRV
610	620	630	640	650	660
VVGREPGVTS	IEVRSPLSDS	ILGEQALAVT	DDKVSVLELR	VQPVMGISLT	LSRGTAHPGE
670	680	690	700	710	720
VTATCWAQSA	LPAPKQEVAL	SLWLSFSDHT	VAPAELYDRR	DLGLSVSAEE	PGAILPAEEQ
730	740	750	760	770	780
GAQLGVVVSG	AGAEGLPLHV	ALHPPEPCRR	GRHRVPLASG	TAWLGLPPAS	TPAPALPSSP
790	800	810	820	830	840
AWSPPATEAT	MGGKRQVAGS	VGGNTGVRGK	FERAEEEARK	EETEAREEEE	EEEEEMVPAP
850	860	870	880	890	900
QHVTELELGM	YALLGVFCVA	IFIFLVNGVV	FVLRYQRKEP	PDSATDPTSP	QPHNWVWLGT
910	920	930	940	950	960
DQEELSRQLD	RQSPGPPKGE	GSCPCESGGG	GEAPTLAPGP	PGGTTSSSST	LARKEAGGRR
970	980	990	1000	1010	1020
KRVEFVTFAP	APPAQSPEEP	VGAPAVQSIL	VAGEEDIRWV	CEDMGLKDPE	ELRNYMERIR

GSS