AiPD: Autoinhibited Protein Database

Q4VNC0

Gene name	ATP13A5 (UNQ488/PRO1004)
Protein name	Probable cation-transporting ATPase 13A5
Names	P5-ATPase isoform 5
Species	Homo sapiens (Human)
KEGG Pathway	hsa:344905
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

743-815 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

743-815 (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 Q4VNC0

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q4VNC0-F1	Predicted				AlphaFoldDB

1030 variants for Q4VNC0

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs143752942	1	M>?	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs763277989 CA2757703	3	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1362334543 CA355775040	3	E>K		No	ClinGen TOPMed
CA2757702 rs773236776	4	N>D		No	ClinGen ExAC
rs1298011580 CA355775007	5	S>G		No	ClinGen gnomAD
rs1464361443 CA355774990	6	K>E		No	ClinGen TOPMed gnomAD
CA89801042 rs751769812	6	K>R		No	ClinGen TOPMed
rs1165947492 CA355774976	7	K>E		No	ClinGen gnomAD
CA2757700 rs760338333	8	D>E		No	ClinGen ExAC gnomAD
CA355774960 rs1461062043	8	D>G		No	ClinGen TOPMed gnomAD
CA355774959 rs1461062043	8	D>V		No	ClinGen TOPMed gnomAD
CA2757699 rs775331157	9	H>P		No	ClinGen ExAC gnomAD
CA2757696 rs770361847	10	R>P		No	ClinGen ExAC TOPMed gnomAD
CA2757695 rs770361847	10	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs148053034 CA2757698	10	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs764305094 CA89801033	11	A>S		No	ClinGen Ensembl
rs563560882 CA2757694	11	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA355774926 rs886341859	14	N>K		No	ClinGen TOPMed gnomAD
CA2757692 rs372420123	14	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372420123 CA2757693	14	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA355774923 rs1213934396	15	Q>*		No	ClinGen gnomAD
CA2757691 rs748504342	16	G>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	18	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	18	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355774873 rs1263225956	19	D>N		No	ClinGen gnomAD
rs1276256377 CA355782933	22	E>K		No	ClinGen gnomAD
CA355782912 rs1475916452	23	V>M		No	ClinGen gnomAD
CA355782887 rs1280093262	25	G>R		No	ClinGen TOPMed
CA2757655 rs145645870	26	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs750506473 CA2757656	26	Y>H		No	ClinGen ExAC TOPMed gnomAD
COSM272369 CA2757653 rs78621247	27	R>Q	large_intestine prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2757654 rs757435375	27	R>W		No	ClinGen ExAC TOPMed gnomAD
rs759282014 CA2757651	28	D>G		No	ClinGen ExAC
CA355782855 rs767332809	28	D>N		No	ClinGen ExAC TOPMed gnomAD
rs767332809 CA2757652	28	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA355782844 rs1196723875	29	H>Y		No	ClinGen gnomAD
CA2757650 rs751336883	30	N>D		No	ClinGen ExAC gnomAD
CA355782833 rs1256432437	30	N>S		No	ClinGen gnomAD
CA355782826 rs1335554687	31	V>L		No	ClinGen gnomAD
CA2757648 rs200695101	32	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2757649 rs148527761	32	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
COSM108618 rs144194313 CA89811503	34	A>P	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1265986999 CA355782755	37	L>R		No	ClinGen TOPMed
CA2757645 rs772652516 COSM4157508	38	V>F	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs776380026 CA2757643	39	A>P		No	ClinGen ExAC gnomAD
rs776380026 COSM1421712 CA2757642	39	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs146780815 CA2757639	41	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs146780815 CA2757640	41	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2757636 rs76759970	42	L>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2757635 rs781565123	43	T>I		No	ClinGen ExAC TOPMed gnomAD
rs781565123 CA355782708	43	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1183113946 CA355782697	44	C>F		No	ClinGen TOPMed gnomAD
rs1235071605 CA355782703	44	C>R		No	ClinGen gnomAD
CA355782700 rs1183113946 COSM1421711	44	C>Y	large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1399282678 CA355782679	46	G>D		No	ClinGen TOPMed
rs1560151960 CA355782669	47	L>H		No	ClinGen Ensembl
CA355782645 rs1284680277	50	V>A		No	ClinGen TOPMed
CA355782650 rs1577373640	50	V>M		No	ClinGen Ensembl
TCGA novel	51	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2757631 rs756301223	53	W>*		No	ClinGen ExAC TOPMed gnomAD
CA2757632 rs149162434	53	W>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751424733 CA2757630	54	R>I		No	ClinGen ExAC TOPMed gnomAD
rs1577373612 CA355782599	54	R>S		No	ClinGen Ensembl
rs751424733 CA355782601	54	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1218187775 CA355782587	55	P>L		No	ClinGen TOPMed
rs145357837 CA2757629	55	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1281238242 CA355782562	57	W>C		No	ClinGen gnomAD
TCGA novel	58	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA89811474 rs1000318402	64	I>M		No	ClinGen gnomAD
CA355782487 rs1215764978	65	P>A		No	ClinGen TOPMed
rs969455507 CA89811472	65	P>L		No	ClinGen TOPMed
CA2757625 rs750305911	66	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1322350451 CA355782454	68	L>S		No	ClinGen gnomAD
CA2757624 rs373760493	69	Q>R		No	ClinGen ESP ExAC gnomAD
CA355782406 rs776258578	73	T>A		No	ClinGen ExAC gnomAD
rs776258578 CA2757622	73	T>S		No	ClinGen ExAC gnomAD
CA2757621 rs763879965	74	V>L		No	ClinGen ExAC gnomAD
rs775775136 CA2757619	75	L>F		No	ClinGen ExAC gnomAD
CA89811458 rs866029735	76	L>P		No	ClinGen Ensembl
CA355782374 rs1246381351	77	R>W		No	ClinGen gnomAD
rs545683782 CA2757617	79	T>R		No	ClinGen 1000Genomes ExAC gnomAD
rs150024258 CA2757599	80	D>A		No	ClinGen ESP ExAC TOPMed
CA355782293 rs532060349 CA2757598	80	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2757596 rs749785921	81	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	84	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355782240 rs1176158988	85	Y>S		No	ClinGen TOPMed
TCGA novel	86	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778680911 CA2757594	87	R>K		No	ClinGen ExAC TOPMed gnomAD
CA355782178 rs1359018156	91	F>L		No	ClinGen gnomAD
CA355782161 rs1174378188	93	L>F		No	ClinGen gnomAD
CA355782156 rs1411911588	94	Y>H		No	ClinGen gnomAD
COSM226094 rs12637558 CA2757592	96	S>F	NS [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs748395557 CA2757593	96	S>P		No	ClinGen ExAC gnomAD
rs748395557 CA89811268	96	S>T		No	ClinGen ExAC gnomAD
CA2757591 VAR_061039 rs12637558 COSM77312	96	S>Y	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2757589 rs527798561	98	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA89811256 rs147948070	99	K>Q		No	ClinGen ESP TOPMed
rs373214053 CA2757586	101	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs777457394 CA2757585	101	P>L		No	ClinGen ExAC gnomAD
rs368981593 CA2757583	102	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs376804888 CA2757582	103	S>R		No	ClinGen ESP ExAC gnomAD
CA355782095 rs1388586967	104	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA2757580 rs551977429	105	K>N		No	ClinGen 1000Genomes ExAC gnomAD
rs192753632 CA2757581	105	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	106	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201387347 CA2757579	107	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1301495143 CA355782060	109	S>P		No	ClinGen gnomAD
rs763452286 CA2757578	109	S>Y		No	ClinGen ExAC gnomAD
CA2757575 rs761999182	110	L>R		No	ClinGen ExAC gnomAD
CA2757576 rs769883157	110	L>V		No	ClinGen ExAC gnomAD
rs1420193577 CA355782053	111	V>M		No	ClinGen gnomAD
rs1165721634 CA355782038	113	D>A		No	ClinGen gnomAD
rs1203438905 CA355782039	113	D>Y		No	ClinGen TOPMed
rs1424370848 CA355782031 COSM168166	114	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA2757574 rs776540812	114	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355782029 rs776540812	114	R>L		No	ClinGen ExAC TOPMed gnomAD
CA355782016 rs1238494460	116	S>C		No	ClinGen gnomAD
rs1197699975 CA355782008	118	I>V		No	ClinGen gnomAD
TCGA novel	119	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	119	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770810735 CA2757570	121	A>D		No	ClinGen ExAC gnomAD
rs1274554055 CA355781985	121	A>T		No	ClinGen gnomAD
rs749259633 CA2757569	122	L>*		No	ClinGen ExAC gnomAD
CA89811226 rs147506893	124	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139502900 CA2757567	126	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2757544 rs199685551	130	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754401797 CA2757545	130	R>W		No	ClinGen ExAC TOPMed gnomAD
rs141207285 CA2757541 CA355781900 CA2757540	132	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2757543 rs151276318	132	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2757542 rs758011441	132	M>T		No	ClinGen ExAC gnomAD
rs6797429 CA2757539	133	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355781899 rs6797429	133	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2757538 rs6797429 VAR_043614	133	E>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs764256938 CA2757537	134	V>M		No	ClinGen ExAC TOPMed gnomAD
CA355781867 rs1187740006	137	I>S		No	ClinGen gnomAD
rs1285956026 CA355781863	138	R>K		No	ClinGen gnomAD
CA2757533 rs759821520	139	Y>*		No	ClinGen ExAC gnomAD
rs775681932 CA2757535	139	Y>C		No	ClinGen ExAC gnomAD
rs535261451 CA89810955	142	N>K		No	ClinGen ExAC TOPMed gnomAD
rs144060676 CA2757530	143	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2757528 rs776379818	144	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs779531740 CA2757525	147	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs149501118 CA2757526	147	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs562355545 CA2757523	148	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs779339356 CA2757522	150	K>*		No	ClinGen ExAC TOPMed gnomAD
rs779339356 CA89810941	150	K>E		No	ClinGen ExAC TOPMed gnomAD
rs887875970 CA89810936	151	V>I		No	ClinGen gnomAD
CA2757520 rs553434720	152	G>A		No	ClinGen ExAC gnomAD
rs553434720 CA355781771	152	G>E		No	ClinGen ExAC gnomAD
rs751632046 CA2757492	154	L>P		No	ClinGen ExAC gnomAD
CA2757491 rs766546445	156	D>N		No	ClinGen ExAC gnomAD
CA2757490 rs534238102	157	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355781720 rs1236998660	158	N>S		No	ClinGen TOPMed
rs866187538 CA89810878	159	S>F		No	ClinGen TOPMed
rs866187538 CA355781713	159	S>Y		No	ClinGen TOPMed
rs1405694207 CA355781706	160	C>Y		No	ClinGen TOPMed
rs1328826300 CA355781700	161	S>C		No	ClinGen gnomAD
CA2757489 rs753630727	161	S>P		No	ClinGen ExAC
rs763889806 CA2757488	162	D>G		No	ClinGen ExAC gnomAD
CA2757486 rs138006161	163	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760608833 CA2757487	163	I>V		No	ClinGen ExAC TOPMed gnomAD
CA89810871 rs1035596678	164	H>R		No	ClinGen TOPMed
rs547207278 CA89810869	165	Q>*		No	ClinGen gnomAD
CA2757485 rs771592249	168	G>A		No	ClinGen ExAC gnomAD
rs1335607011 CA355781648	169	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM1537434 CA355781644 rs1222140268	170	G>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs968206357 CA89810865	170	G>D		No	ClinGen Ensembl
TCGA novel	173	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1223978272 CA355781604	176	Q>*		No	ClinGen gnomAD
CA2757482 rs770548323	176	Q>R		No	ClinGen ExAC gnomAD
rs748915792 CA2757481	178	V>D		No	ClinGen ExAC gnomAD
rs772876077 CA2757462	180	R>S		No	ClinGen ExAC gnomAD
CA89809051 rs955825396	181	L>F		No	ClinGen TOPMed
CA2757461 rs769551770	182	V>L		No	ClinGen ExAC gnomAD
CA355780590 rs1156916752	183	C>R		No	ClinGen TOPMed gnomAD
rs1299347942 CA355780587	183	C>Y		No	ClinGen gnomAD
rs748559808 CA89809045	184	G>R		No	ClinGen ExAC TOPMed gnomAD
rs748559808 CA2757460	184	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1577367331 CA355780571	185	P>S		No	ClinGen Ensembl
CA89809041 rs145589342	186	N>D		No	ClinGen ESP TOPMed gnomAD
rs141850010 CA2757458	186	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1178664578 CA355780560	186	N>S		No	ClinGen gnomAD
CA89809031 rs1033096454	187	A>D		No	ClinGen TOPMed
rs747489400 CA2757457	187	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA355780541 rs1183855353	188	I>V		No	ClinGen TOPMed gnomAD
rs758463114 CA2757454	193	Q>*		No	ClinGen ExAC gnomAD
rs892557416 CA89809022	194	P>A		No	ClinGen gnomAD
rs757466976 CA2757451	195	I>M		No	ClinGen ExAC gnomAD
rs779155800 CA2757452	195	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2757450 rs752547591	196	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2757448 rs374609371	200	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2757447 rs751476340	202	Q>E		No	ClinGen ExAC gnomAD
rs1333504909 CA355780327	202	Q>P		No	ClinGen TOPMed
rs200213416 CA2757425	205	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355780123 rs1330884579	207	F>L		No	ClinGen gnomAD
CA355780118 rs1248803220	208	Y>C		No	ClinGen TOPMed
rs751292887 CA2757424	210	F>S		No	ClinGen ExAC gnomAD
CA355780094 rs1448825181	211	Q>H		No	ClinGen TOPMed
TCGA novel	216	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373260224 CA2757423	216	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA355780052 rs1412863391	218	W>*		No	ClinGen gnomAD
CA355780051 rs1412863391	218	W>S		No	ClinGen gnomAD
rs80165895 CA89808113	220	S>A		No	ClinGen Ensembl
CA2757421 rs750007232	221	Q>R		No	ClinGen ExAC gnomAD
rs766171326 CA89808106	224	I>T		No	ClinGen gnomAD
rs764779524 CA2757420	224	I>V		No	ClinGen ExAC gnomAD
rs200019739 CA2757419	225	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144945890 CA89808103	225	E>Q		No	ClinGen ESP TOPMed
rs750321224 CA2757416 CA2757417	226	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs775687181 COSM4149749 CA2757415	229	A>D	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2757413 rs376315892	230	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2757412 rs373135650	232	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs770956404 CA2757411	234	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	235	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749532167 CA2757410	235	V>L		No	ClinGen ExAC gnomAD
rs1389822927 CA355779944	236	I>V		No	ClinGen TOPMed gnomAD
rs778015038 CA2757409	237	S>C		No	ClinGen ExAC gnomAD
CA355779931 rs1232990884	238	I>V		No	ClinGen TOPMed
rs1294168589 CA355779919	240	L>V		No	ClinGen gnomAD
CA355779905 rs1577365336	242	V>M		No	ClinGen Ensembl
rs1269072071 CA355779895	243	Y>C		No	ClinGen TOPMed
COSM3333600 rs140992895 CA2757408	246	R>*	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs746884320 CA355779874	246	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746884320 CA2757407	246	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766985195 CA89806638	248	Q>L		No	ClinGen TOPMed gnomAD
rs766985195 CA355779235	248	Q>P		No	ClinGen TOPMed gnomAD
CA355779194 rs1272126165	252	L>P		No	ClinGen TOPMed
CA2757389 rs748264884	254	N>D		No	ClinGen ExAC gnomAD
rs779907014 CA2757388	254	N>T		No	ClinGen ExAC gnomAD
rs745824116 CA2757386	255	L>F		No	ClinGen ExAC TOPMed
rs779044454 COSM1184034 CA2757385	256	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2757384 rs757230872	260	N>S		No	ClinGen ExAC TOPMed gnomAD
CA89806622 rs971721015	264	V>D		No	ClinGen Ensembl
rs2887033 CA89806626	264	V>I		No	ClinGen TOPMed gnomAD
rs2887033 CA89806625	264	V>L		No	ClinGen TOPMed gnomAD
rs1450566659 CA355779065	265	T>A		No	ClinGen TOPMed
CA89806620 rs768563055	265	T>K		No	ClinGen Ensembl
rs1321579635 CA355779041	267	I>T		No	ClinGen gnomAD
rs1577361760 CA355779030	268	V>A		No	ClinGen Ensembl
rs1280152650 CA355779036	268	V>I		No	ClinGen TOPMed gnomAD
rs1434120727 CA355779026	269	K>E		No	ClinGen gnomAD
rs755794261 CA2757381	270	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755794261 CA355779014 COSM177233	270	D>Y	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs752250353 CA2757380	271	K>E		No	ClinGen ExAC gnomAD
rs1194063922 CA355778966	272	G>A		No	ClinGen gnomAD
rs764664049 CA89806613	272	G>C		No	ClinGen Ensembl
rs764664049 CA89806610	272	G>S		No	ClinGen Ensembl
CA355778943 rs1265918194	275	E>D		No	ClinGen gnomAD
CA355778949 rs1358340716	275	E>K		No	ClinGen gnomAD
rs367913282 CA89806368	276	L>V		No	ClinGen Ensembl
CA355778936 rs1249181714	277	E>Q		No	ClinGen TOPMed gnomAD
rs894787619 CA89806365	277	E>V		No	ClinGen Ensembl
rs372925735 CA2757355	279	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA2757354 rs148990571	279	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA355778922 rs148990571	279	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2757350 CA2757351 rs764478997	281	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2757352 rs761850353	281	L>V		No	ClinGen ExAC gnomAD
rs760967202 CA2757349	282	V>L		No	ClinGen ExAC gnomAD
CA2757348 rs774293165	283	P>S		No	ClinGen ExAC
rs147928745 CA2757346	284	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA89806352 rs932253966	287	L>I		No	ClinGen TOPMed
CA2757343 rs747676724	288	I>F		No	ClinGen ExAC TOPMed gnomAD
rs747676724 CA2757344	288	I>L		No	ClinGen ExAC TOPMed gnomAD
CA355778873 rs1342564249	288	I>T		No	ClinGen TOPMed
CA355778858 rs1230242660	291	G>R		No	ClinGen TOPMed
TCGA novel	293	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2757341 rs144965247	296	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA89806347 rs946523298	296	P>S		No	ClinGen TOPMed gnomAD
rs780431860 CA2757339	297	C>S		No	ClinGen ExAC
CA2757338 rs758644099	297	C>Y		No	ClinGen ExAC gnomAD
rs148596925 COSM109283 CA89806342	299	A>D	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1452202276 CA355778796	300	V>A		No	ClinGen gnomAD
TCGA novel	301	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355778784 rs763104155	302	I>N		No	ClinGen gnomAD
rs763104155 CA89806341	302	I>T		No	ClinGen gnomAD
rs1560142644 CA355778786	302	I>V		No	ClinGen Ensembl
rs192952756 CA89806339	303	D>N		No	ClinGen 1000Genomes gnomAD
CA355778772 rs1489784970	304	G>E		No	ClinGen TOPMed
CA2757337 rs750780435	304	G>R		No	ClinGen ExAC gnomAD
rs779330125 CA2757336	305	S>G		No	ClinGen ExAC gnomAD
rs79423072 CA2757334	306	C>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1277372440 CA355778753	307	V>A		No	ClinGen gnomAD
CA2757333 rs371940596	307	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs752917934 CA2757331	311	G>D		No	ClinGen ExAC gnomAD
rs1417645715 CA355778713	313	L>V		No	ClinGen TOPMed
TCGA novel	316	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2757309 rs765012075	317	S>N		No	ClinGen ExAC gnomAD
CA355777925 rs1474964211	318	I>M		No	ClinGen TOPMed gnomAD
TCGA novel	318	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	322	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs566822422 CA2757305	323	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs768560571 CA2757304	324	P>S		No	ClinGen ExAC gnomAD
CA355777882 rs1296923833	325	L>F		No	ClinGen gnomAD
CA2757302 rs774978644	326	P>L		No	ClinGen ExAC TOPMed gnomAD
CA89804152 rs200088291 CA89804154	327	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
rs1360384449 CA355777872	327	Q>R		No	ClinGen gnomAD
rs771680515 CA355777866	328	M>R		No	ClinGen ExAC gnomAD
rs771680515 CA2757301	328	M>T		No	ClinGen ExAC gnomAD
rs149659011 CA89804148	329	E>A		No	ClinGen ESP TOPMed
TCGA novel	329	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771278274 CA2757298	332	M>K		No	ClinGen ExAC TOPMed
CA2757299 rs779185621	332	M>V		No	ClinGen ExAC gnomAD
rs1204764446 CA355777829	333	P>L		No	ClinGen TOPMed gnomAD
CA355777834 rs1334914689	333	P>S		No	ClinGen gnomAD
CA2757297 rs749647100	334	W>*		No	ClinGen ExAC gnomAD
rs201429261 CA2757296	335	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA355777810 rs1171138201	336	C>Y		No	ClinGen gnomAD
CA355777794 rs1409289639	338	S>N		No	ClinGen gnomAD
CA89804132 rs546798071	340	E>K		No	ClinGen 1000Genomes
rs1000518110 CA89804128	341	D>N		No	ClinGen Ensembl
rs756681730 CA2757295	342	Y>H		No	ClinGen ExAC gnomAD
CA2757293 rs75931190	344	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1317437371 CA355777743	345	H>R		No	ClinGen TOPMed
rs775835625 CA2757291	346	V>I		No	ClinGen ExAC TOPMed gnomAD
rs775835625 CA355777739	346	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1467097177 CA355777734	347	L>I		No	ClinGen TOPMed
CA355777715 rs1204495339	349	C>F		No	ClinGen gnomAD
CA355777712 rs1306235543	350	G>R		No	ClinGen gnomAD
CA2757288 rs753603244	351	T>I		No	ClinGen ExAC gnomAD
CA89804118 rs200990123	351	T>S		No	ClinGen 1000Genomes
CA2757287 rs764087441	353	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2757286 rs530965844	354	I>V		No	ClinGen 1000Genomes ExAC
RCV000455662 rs74437357 CA2757284	355	Q>*		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1287302749 CA355777660	358	P>S		No	ClinGen gnomAD
TCGA novel	360	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	363	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2757282 rs766986505	364	V>I		No	ClinGen ExAC gnomAD
CA2757280 rs139354114 COSM1421704	365	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA355777619 rs139354114	365	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2757279 rs372618344	365	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA89804089 rs935181304	366	A>V		No	ClinGen TOPMed
CA89804085 rs138168234	367	V>I		No	ClinGen 1000Genomes gnomAD
rs138168234 CA355777610	367	V>L		No	ClinGen 1000Genomes gnomAD
CA2757275 rs748594630	368	V>A		No	ClinGen ExAC gnomAD
rs370567338 COSM77310 CA2757276	368	V>I	ovary large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA355777591 rs1250662645	370	Q>R		No	ClinGen gnomAD
rs755041142 CA2757273	371	T>I		No	ClinGen ExAC TOPMed gnomAD
CA355777582 rs747042468	372	G>R		No	ClinGen ExAC gnomAD
CA2757272 rs747042468	372	G>S		No	ClinGen ExAC gnomAD
rs146240850 CA355777540	373	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1290493786 CA355777525	374	N>S		No	ClinGen gnomAD
rs1287994841 CA355777520	375	T>A		No	ClinGen gnomAD
CA355777467 rs1451166060	379	D>Y		No	ClinGen TOPMed gnomAD
CA2757244 rs762721457	381	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2757243 rs750043889	382	R>S		No	ClinGen ExAC
CA89803698 rs867852997	383	S>F		No	ClinGen Ensembl
rs764965409 CA2757241	385	L>V		No	ClinGen ExAC gnomAD
rs1427846107 CA355777383	386	Y>H		No	ClinGen gnomAD
TCGA novel	388	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776857987 CA2757239	388	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs972464518 CA89803691	388	R>W		No	ClinGen Ensembl
CA2757236 rs761030936	391	N>S		No	ClinGen ExAC gnomAD
CA2757234 rs369843155	395	Y>H		No	ClinGen ESP ExAC
rs138727987 CA2757233	396	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1263942005 CA355777270	396	S>R		No	ClinGen gnomAD
CA2757231 rs771136195 COSM1042617	397	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs976953321 CA89803665	398	A>V		No	ClinGen TOPMed
rs564041558 CA2757230	400	K>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355777209 rs1326868658	400	K>R		No	ClinGen gnomAD
rs780788806 CA2757229	401	F>C		No	ClinGen ExAC gnomAD
rs754945295 CA355777189	402	I>L		No	ClinGen ExAC TOPMed gnomAD
CA2757228 rs754945295	402	I>V		No	ClinGen ExAC TOPMed gnomAD
rs147789936 CA2757227	403	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1729779 rs779728956 CA355777143	406	A>P	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779728956 CA2757226	406	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1468847477 CA355777137	406	A>V		No	ClinGen TOPMed gnomAD
rs1403183743 CA355777108	409	G>C		No	ClinGen gnomAD
rs1170205487 CA355777098	410	V>I		No	ClinGen gnomAD
CA355777076 rs1416585992	411	M>I		No	ClinGen TOPMed
CA2757225 rs758034456	411	M>T		No	ClinGen ExAC gnomAD
TCGA novel	414	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376836714 CA2757224	415	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1372907768	415	Y>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA89803645 rs1014490094	415	Y>N		No	ClinGen Ensembl
CA2757223 rs765053455	416	A>T		No	ClinGen ExAC gnomAD
CA2757222 rs267599739	416	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1183145231 CA355777013	417	L>P		No	ClinGen TOPMed gnomAD
CA355777005 rs1260064159	418	G>A		No	ClinGen gnomAD
CA2757218 rs775929293	419	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780118780 CA2757216	420	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs780118780 CA89803622	420	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA89803615 rs756613427	421	M>T		No	ClinGen Ensembl
CA2757215 rs774400704	421	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2757214 rs771196726	422	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	422	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2757213 rs749400403	424	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs144247133 CA2757192	425	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144247133 CA2757191	425	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	428	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745734134 CA2757189	430	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2757185 rs756675902	431	V>G		No	ClinGen ExAC
CA355776916 rs1360478948	431	V>L		No	ClinGen TOPMed
rs748811592 CA2757184	432	T>I		No	ClinGen ExAC gnomAD
CA2757182 rs777354581	433	M>I		No	ClinGen ExAC TOPMed gnomAD
CA355776905 rs1248411997	433	M>T		No	ClinGen TOPMed
rs1577353998 CA355776895	434	A>D		No	ClinGen Ensembl
rs755775793 CA2757180	436	I>N		No	ClinGen ExAC
CA2757178 rs767801283	438	L>H		No	ClinGen ExAC TOPMed gnomAD
rs755507251 CA2757176	439	T>N		No	ClinGen ExAC gnomAD
rs1577353977 CA355776870	439	T>P		No	ClinGen Ensembl
CA2757173 rs138137992	440	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP NCI-TCGA TOPMed gnomAD
CA2757171 rs762979471	441	T>P		No	ClinGen ExAC gnomAD
rs762979471 CA2757170	441	T>S		No	ClinGen ExAC gnomAD
CA89798700 rs974825431	442	V>I		No	ClinGen TOPMed gnomAD
rs372215216 CA2757167	443	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs567460397 CA2757165	447	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs771953557 CA355776817	449	A>D		No	ClinGen ExAC TOPMed gnomAD
rs1243618007 CA355776820	449	A>S		No	ClinGen TOPMed gnomAD
CA2757164 rs771953557	449	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1265810561 CA355776803	452	I>V		No	ClinGen TOPMed gnomAD
CA355776794 rs1159739317	453	G>D		No	ClinGen TOPMed
CA355776783 rs1320356675	455	V>M		No	ClinGen TOPMed
rs1263068804 CA355776769	457	A>T		No	ClinGen gnomAD
CA2757159 rs777279906	458	Q>*		No	ClinGen ExAC gnomAD
rs1560136261 CA355776756	459	K>*		No	ClinGen Ensembl
CA355776750 rs769439505	459	K>N		No	ClinGen ExAC gnomAD
rs747755115 CA2757157	460	R>K		No	ClinGen ExAC gnomAD
rs1560136244 CA355776725	463	K>R		No	ClinGen Ensembl
CA2757156 rs781555500	465	K>N		No	ClinGen ExAC gnomAD
rs1443579019 CA355776703	466	I>N		No	ClinGen gnomAD
CA2757154 rs75032809	467	F>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2757153 rs75032809	467	F>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs747465222 CA89798632	468	C>R		No	ClinGen TOPMed
CA355776666 rs765298077	472	Q>*		No	ClinGen ExAC gnomAD
CA2757149 rs765298077	472	Q>E		No	ClinGen ExAC gnomAD
rs762157766 CA2757148	474	I>T		No	ClinGen ExAC gnomAD
CA2757147 rs375664860	475	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2757144 rs1243589122	476	M>I		No	ClinGen TOPMed
CA2757146 rs764391170	476	M>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs966029195 CA89798605	476	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1462483105 CA355776634	477	C>R		No	ClinGen TOPMed
CA2757143 rs759446071	477	C>Y		No	ClinGen ExAC gnomAD
CA2757142 rs149638612	478	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355776597 rs1422731350	482	L>F		No	ClinGen Ensembl
CA89798597 rs1015250596	483	V>A		No	ClinGen TOPMed
CA355776592 rs1015250596	483	V>E		No	ClinGen TOPMed
CA89798601 rs770785275	483	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2757141 rs770785275	483	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2757139 rs141636662	484	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs551939833 CA2757136	486	D>N		No	ClinGen 1000Genomes ExAC gnomAD
rs551939833 CA2757137	486	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1310790726 CA355776173	488	T>I		No	ClinGen gnomAD
rs773245467 CA2757122	489	G>D		No	ClinGen ExAC
rs765125517 CA2757121	490	T>A		No	ClinGen ExAC TOPMed gnomAD
CA355776154 rs1298745443	492	T>A		No	ClinGen gnomAD
CA355776150 rs1323726434	492	T>I		No	ClinGen TOPMed
TCGA novel	494	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	495	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs915063978 CA89797048	495	G>R		No	ClinGen TOPMed gnomAD
rs768314443 CA2757117	497	D>E		No	ClinGen ExAC gnomAD
CA355776119 rs1425005855	497	D>G		No	ClinGen gnomAD
rs1162179104 CA355776116	498	L>I		No	ClinGen gnomAD
rs139251604 CA2757114	499	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA355776104 CA89797031 rs750238151	499	W>C		No	ClinGen TOPMed
CA355776090 rs1337572009	502	V>I		No	ClinGen TOPMed
rs772433326 CA2757113	503	P>S		No	ClinGen ExAC gnomAD
CA2757112 rs746196656	504	T>A		No	ClinGen ExAC TOPMed gnomAD
CA355776069 rs1271634926	505	A>V		No	ClinGen gnomAD
CA2757111 rs779605539	506	D>E		No	ClinGen ExAC
rs1334537630 CA355776067	506	D>H		No	ClinGen TOPMed
rs1212204638 CA355776057	507	N>T		No	ClinGen TOPMed
rs1298880414 CA355776034	508	C>W		No	ClinGen gnomAD
CA355776050 rs1452668079	508	C>Y		No	ClinGen TOPMed
rs921812032 CA89795779	510	Q>*		No	ClinGen Ensembl
CA355776002 rs1447412091	513	H>Y		No	ClinGen gnomAD
CA2757090 rs778020787	514	S>I		No	ClinGen ExAC TOPMed gnomAD
rs778020787 CA2757089	514	S>N		No	ClinGen ExAC TOPMed gnomAD
CA2757088 CA355775992 rs756263062	514	S>R		No	ClinGen ExAC TOPMed gnomAD
CA355775996 rs1359894775	514	S>R		No	ClinGen gnomAD
TCGA novel	516	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1407652315 CA355775973	517	S>*		No	ClinGen gnomAD
rs1407652315 COSM3847017 CA355775972	517	S>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1465963355 CA355775968	518	G>D		No	ClinGen gnomAD
rs1429423838 CA355775950	521	V>L		No	ClinGen gnomAD
rs927473651 CA89795761	523	W>R		No	ClinGen TOPMed
CA2757084 rs750235207	526	L>Q		No	ClinGen ExAC gnomAD
CA355775895 rs757220508	528	A>E		No	ClinGen ExAC gnomAD
CA2757083 rs778615820	528	A>T		No	ClinGen ExAC gnomAD
rs757220508 CA2757082	528	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2757079 rs760273895	529	A>T		No	ClinGen ExAC TOPMed gnomAD
rs752146025 CA2757078	530	M>V		No	ClinGen ExAC gnomAD
rs1407596709 CA355775864	531	A>P		No	ClinGen Ensembl
rs767260419 CA2757076	532	S>R		No	ClinGen ExAC gnomAD
rs759042086 CA2757075	532	S>T		No	ClinGen ExAC gnomAD
rs774886167 CA2757074	534	H>L		No	ClinGen ExAC gnomAD
TCGA novel	537	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355775793 rs1400723677	537	I>N		No	ClinGen gnomAD
COSM149546 CA2757072 rs140058809	537	I>V	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2757069 rs770194359	541	G>R		No	ClinGen ExAC gnomAD
CA355775709 rs1276778938	543	I>T		No	ClinGen TOPMed
TCGA novel	544	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	545	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA89795724 rs142966864	545	G>R		No	ClinGen ESP TOPMed gnomAD
CA355775663 rs1257865461	546	D>A		No	ClinGen TOPMed
rs1183087529 CA355775656	546	D>E		No	ClinGen gnomAD
CA355775659 rs1257865461	546	D>V		No	ClinGen TOPMed
TCGA novel	549	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440712868 CA355775624	549	D>V		No	ClinGen gnomAD
CA89795721 rs1027438198	551	K>R		No	ClinGen TOPMed
CA89795717 rs369208712	552	M>I		No	ClinGen ESP
rs920630347 CA89795719	552	M>K		No	ClinGen TOPMed gnomAD
rs768930725 CA2757066	555	G>D		No	ClinGen ExAC gnomAD
CA89795713 rs974007868	556	T>A		No	ClinGen TOPMed
CA355775517 rs1480869713	557	A>G		No	ClinGen gnomAD
rs1273629034 CA355775503	558	W>*		No	ClinGen gnomAD
rs1418799595 CA355775193	560	M>I		No	ClinGen TOPMed
rs768573614 CA2757046	560	M>T		No	ClinGen ExAC TOPMed gnomAD
rs776807207 CA2757047	560	M>V		No	ClinGen ExAC TOPMed gnomAD
CA355775173 rs1346538452	563	C>Y		No	ClinGen gnomAD
CA2757044 rs780295022	564	I>L		No	ClinGen ExAC gnomAD
CA355775166 rs1348041583	564	I>T		No	ClinGen TOPMed gnomAD
CA2757045 rs780295022	564	I>V		No	ClinGen ExAC gnomAD
rs1403792469 CA355775153	566	D>G		No	ClinGen gnomAD
CA355775138 rs1371370636	568	C>*		No	ClinGen TOPMed
CA2757043 rs772278699	568	C>F		No	ClinGen ExAC gnomAD
CA355775142 rs1172684770	568	C>R		No	ClinGen TOPMed
CA89794682 rs184092642	570	F>C		No	ClinGen 1000Genomes
CA355775128 rs1159255486	570	F>V		No	ClinGen gnomAD
rs199624603 CA2757041	572	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747985085 CA2757039	573	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781165866 CA2757038	574	V>A		No	ClinGen ExAC TOPMed gnomAD
CA2757037 rs372840515	577	I>L		No	ClinGen ESP ExAC gnomAD
CA355775069 rs1285856413	579	K>R		No	ClinGen gnomAD
rs766188885 CA89794651	580	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2757034 rs758063063	580	P>L		No	ClinGen ExAC gnomAD
CA2757035 rs766188885	580	P>S		No	ClinGen ExAC TOPMed gnomAD
rs149040086 CA89794644	581	G>A		No	ClinGen ESP TOPMed
rs1324779626 CA355775033	582	P>Q		No	ClinGen TOPMed gnomAD
rs1274599134 CA355774996	585	S>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA2757032 rs765480765	586	K>N		No	ClinGen ExAC gnomAD
CA2757006 rs759636595	589	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs374086408 CA2757004	591	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs771176175 CA2757003	592	I>V		No	ClinGen ExAC gnomAD
CA89794369 rs760648746	594	T>I		No	ClinGen TOPMed gnomAD
rs1368846512 CA355774810	595	L>S		No	ClinGen TOPMed
rs139155353 CA2757000	599	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1577348864 CA355774781	599	P>S		No	ClinGen Ensembl
rs1340327629 CA355774764	601	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs149839711 CA89794362 COSM107596	602	S>L	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	602	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2756997 rs541864223	603	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs745353669 CA2756996	605	Q>R		No	ClinGen ExAC gnomAD
CA89794352 rs896230888	606	R>K		No	ClinGen TOPMed
CA2756995 rs778497655	607	M>L		No	ClinGen ExAC TOPMed gnomAD
CA355774703 rs778497655	607	M>V		No	ClinGen ExAC TOPMed gnomAD
rs146244383 CA2756993	609	V>M		No	ClinGen ESP ExAC gnomAD
rs756648262 CA2756991	610	I>T		No	ClinGen ExAC TOPMed gnomAD
CA2756992 rs778047794	610	I>V		No	ClinGen ExAC gnomAD
rs143477252 COSM446187 CA2756989	611	A>T	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
COSM729941 CA2756988 rs139981143	612	Q>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA89794320 rs776645848	612	Q>R		No	ClinGen gnomAD
rs766523832 CA2756986	614	A>V		No	ClinGen ExAC gnomAD
CA355774603 rs1270551684	615	G>E		No	ClinGen TOPMed
CA355774591 rs1294303658	616	E>G		No	ClinGen gnomAD
CA355774598 rs1482239569	616	E>K		No	ClinGen gnomAD
CA2756985 rs149246060	618	H>P		No	ClinGen 1000Genomes ExAC gnomAD
rs1330473650 CA355774536	620	H>R		No	ClinGen TOPMed
TCGA novel	621	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355774532 rs1321249580	621	V>I		No	ClinGen gnomAD
rs1225501608 CA355774525	622	Y>H		No	ClinGen gnomAD
CA355774496 rs1352280857	625	G>D		No	ClinGen TOPMed gnomAD
CA89794290 rs979316490	629	M>T		No	ClinGen TOPMed
CA355774413 rs1408999505	632	R>T		No	ClinGen gnomAD
TCGA novel	633	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355774369 rs1183244734	635	R>S		No	ClinGen TOPMed
CA355774373 rs1437064346	635	R>T		No	ClinGen gnomAD
CA2756983 rs768524969	636	S>C		No	ClinGen ExAC TOPMed
rs942574166 CA89794287	636	S>T		No	ClinGen TOPMed
CA355774351 rs1396629102	637	E>G		No	ClinGen gnomAD
CA355773969 rs1280312517	639	V>G		No	ClinGen TOPMed
rs74371245 CA2756967	640	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs937316037 CA89793429	640	P>S		No	ClinGen TOPMed
rs928557187 CA89793425	641	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs148097145 CA89793421	645	Q>*		No	ClinGen ESP gnomAD
CA355773888 rs1265545592	646	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs763104139 CA2756966	650	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1465449198 CA355773842	651	T>A		No	ClinGen gnomAD
COSM3365115 CA2756965 rs750724708	651	T>M	kidney Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA355773838 rs1489058857	652	V>M		No	ClinGen TOPMed gnomAD
rs1183382360 CA355773828	653	Q>R		No	ClinGen TOPMed
CA2756963 rs760615639	654	G>S		No	ClinGen ExAC gnomAD
COSM1421697 rs201429023 CA2756962	656	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs370727916 CA2756961	656	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA355773790 rs1191452561	659	A>G		No	ClinGen TOPMed
rs1298810810 CA355773776	662	H>N		No	ClinGen TOPMed gnomAD
rs759454971 CA2756960	662	H>Q		No	ClinGen ExAC gnomAD
TCGA novel	663	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1024778596 CA89793402	664	T>A		No	ClinGen TOPMed
CA355773753 rs1577346978	665	L>S		No	ClinGen Ensembl
CA355773742 rs1432202808	666	K>N		No	ClinGen gnomAD
CA89793400 rs267599738	667	M>I		No	ClinGen Ensembl
CA2756959 rs144655859	668	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1303871407 CA355773720	670	L>I		No	ClinGen gnomAD
rs1170774281 CA355773692	674	E>*		No	ClinGen gnomAD
rs748763205 CA2756957	674	E>G		No	ClinGen ExAC gnomAD
rs1170774281 CA355773694	674	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA355773670 rs73888252	677	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355773669 rs73888252	677	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146796988 CA89793391	677	A>T		No	ClinGen ESP TOPMed gnomAD
rs73888252 CA2756955	677	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764202324 CA2756924	680	K>N		No	ClinGen ExAC gnomAD
rs933404118 CA89792321	690	L>F		No	ClinGen Ensembl
rs766350622 CA2756921	691	L>I		No	ClinGen ExAC gnomAD
rs1353637107 CA355773318	692	I>T		No	ClinGen gnomAD
rs1270636826 CA355773302	693	M>T		No	ClinGen gnomAD
rs187199317 CA2756919	694	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2756918 rs187199317	694	E>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1328951501 CA355773268	695	N>I		No	ClinGen gnomAD
rs150495266 CA2756917	696	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2756916 rs74478656	696	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150495266 CA355773263	696	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA355773204 rs1385233201	700	E>*		No	ClinGen gnomAD
TCGA novel	700	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2756913 rs568856073	701	T>S		No	ClinGen 1000Genomes ExAC gnomAD
CA355773161 rs1457677596	703	L>R		No	ClinGen gnomAD
rs1411098079 CA355773133	707	E>D		No	ClinGen gnomAD
rs761159307 CA2756912	710	E>K		No	ClinGen ExAC gnomAD
rs150934081 CA2756910	712	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150934081 CA2756911	712	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746342009 CA2756909	712	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355773098 rs1295283740	713	I>T		No	ClinGen gnomAD
CA2756908 rs143421380	716	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs267599736 CA2756905 COSM1693982	717	M>I	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs771187111 CA2756907	717	M>K		No	ClinGen ExAC
CA355773042 rs1208764325	717	M>V		No	ClinGen gnomAD
CA355772979 rs1282700147	719	T>I		No	ClinGen gnomAD
rs759959775 CA2756889	721	D>N		No	ClinGen ExAC gnomAD
rs775041366 CA2756888 CA355772793	722	N>K		No	ClinGen ExAC gnomAD
rs771548646 CA2756887	724	Q>*		No	ClinGen ExAC gnomAD
rs749397704 CA2756886	724	Q>R		No	ClinGen ExAC gnomAD
rs777644226 CA2756885	725	T>M		No	ClinGen ExAC TOPMed gnomAD
rs887711341 CA355772749	726	A>S		No	ClinGen TOPMed
rs887711341 CA89792028	726	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1577344015 CA355772736	727	I>T		No	ClinGen Ensembl
CA2756884 rs770082611	727	I>V		No	ClinGen ExAC TOPMed gnomAD
CA355772731 rs1268391915	728	T>A		No	ClinGen gnomAD
rs748268958 CA2756883	728	T>N		No	ClinGen ExAC TOPMed gnomAD
COSM1693981 CA89792023 rs895132442	729	V>A	Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
COSM1670789 CA355772682 rs1167129944	731	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1340950092 CA355772659	733	S>T		No	ClinGen gnomAD
CA355772594 rs1333287653	736	I>N		No	ClinGen gnomAD
CA355772573 rs1372027176	738	P>A		No	ClinGen TOPMed gnomAD
rs1168834962 CA355772568	738	P>R		No	ClinGen gnomAD
rs2280268 CA355772556	739	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_043615 CA2756881 rs2280268	739	G>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA355772537 rs1473432299	740	S>G		No	ClinGen gnomAD
rs1237366504 CA355772533	740	S>N		No	ClinGen TOPMed gnomAD
CA89792013 rs996013966	742	V>A		No	ClinGen TOPMed gnomAD
rs757084912 CA2756878	742	V>L		No	ClinGen ExAC TOPMed gnomAD
CA355772500 rs757084912	742	V>M		No	ClinGen ExAC TOPMed gnomAD
CA355772422 rs1257490882	744	I>T		No	ClinGen TOPMed
CA355772431 rs1204669690	744	I>V		No	ClinGen gnomAD
CA355772409 rs1423833584	745	V>F		No	ClinGen TOPMed
CA2756877 rs753393565	746	E>A		No	ClinGen ExAC TOPMed gnomAD
rs79270190 CA2756875	748	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1379821780 CA355772350	748	D>V		No	ClinGen gnomAD
CA89792005 rs79270190	748	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752449899 CA2756874	749	E>D		No	ClinGen ExAC TOPMed gnomAD
CA355772345 rs1292528314	749	E>K		No	ClinGen gnomAD
COSM209281 CA355772286 rs1352082779	752	E>*	large_intestine Variant assessed as Somatic; 4.621e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA355772258 rs1577343895	753	F>C		No	ClinGen Ensembl
rs1560127973 CA355772268	753	F>L		No	ClinGen Ensembl
CA355772223 rs1304456107	755	P>L		No	ClinGen TOPMed
CA2756873 rs78188075	756	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1166324593 CA355772164	760	W>*		No	ClinGen gnomAD
CA355772167 rs1352364698	760	W>*		No	ClinGen TOPMed gnomAD
rs760033344 CA2756872	760	W>R		No	ClinGen ExAC gnomAD
COSM4005325 rs1405387747 CA355772161	761	Q>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA355772128 rs750412147	765	N>K		No	ClinGen ExAC gnomAD
rs769813281 CA2756868	770	P>H		No	ClinGen ExAC TOPMed gnomAD
rs769813281 CA2756867	770	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2756866 rs559620854	771	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs946466686 CA89791986	771	G>V		No	ClinGen Ensembl
CA355772094 rs559620854	771	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	772	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371266657 CA2756865	773	K>N		No	ClinGen ESP ExAC gnomAD
CA89791487 rs936748311	774	E>D		No	ClinGen TOPMed
CA2756849 rs115289476	775	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA89791484 rs1039647827	776	Y>C		No	ClinGen Ensembl
CA355772050 rs1254727461	776	Y>H		No	ClinGen Ensembl
rs776636176 CA2756848	777	M>T		No	ClinGen ExAC gnomAD
TCGA novel	778	H>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	778	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2756847 rs768870988	778	H>R		No	ClinGen ExAC gnomAD
rs145000399 CA2756845	779	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs370805790 CA2756843	779	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs370805790 CA2756844	779	T>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs145000399 CA355772029	779	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA2756846 rs145000399	779	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1390039197 CA355772002	783	S>L		No	ClinGen gnomAD
CA2756840 rs756017635	786	R>C		No	ClinGen ExAC TOPMed gnomAD
rs368258320 CA2756839	786	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs368258320 CA2756838	786	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs751305381 CA2756836	787	G>E		No	ClinGen ExAC TOPMed gnomAD
COSM583152 rs751305381 CA2756837	787	G>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs766023378 CA2756835	788	E>D		No	ClinGen ExAC gnomAD
rs750784892 CA2756833	789	G>E		No	ClinGen ExAC TOPMed gnomAD
CA2756834 rs758754317	789	G>R		No	ClinGen ExAC TOPMed gnomAD
CA355771962 rs375191680	791	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2756832 rs375191680	791	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2756831 rs762242545	791	S>N		No	ClinGen ExAC gnomAD
CA2756829 rs764111763	791	S>R		No	ClinGen ExAC TOPMed gnomAD
COSM729943 rs760725199 CA2756828	792	C>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2756827 rs775619721	792	C>S		No	ClinGen ExAC gnomAD
CA89791444 rs951661184 CA355771916	797	M>I		No	ClinGen TOPMed
rs370197298 CA89791442	799	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2756825 rs762716856	800	K>R		No	ClinGen ExAC gnomAD
CA89791436 rs868708892	801	S>L		No	ClinGen Ensembl
CA355771883 rs905104478	802	Y>*		No	ClinGen TOPMed
CA355771875 rs1277679622	803	Q>H		No	ClinGen gnomAD
CA355771877 rs1346711472	803	Q>R		No	ClinGen gnomAD
rs773463585 CA89791432	804	V>L		No	ClinGen gnomAD
CA355771873 rs773463585	804	V>M		No	ClinGen gnomAD
rs1044994434 CA89791431	805	I>M		No	ClinGen TOPMed
CA355771852 rs1365286592	807	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs370945513 CA2756824	808	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1380999396 CA355771841	808	H>Q		No	ClinGen gnomAD
rs769647498 CA2756823	809	F>S		No	ClinGen ExAC gnomAD
rs1577342405 CA355771796	815	K>E		No	ClinGen Ensembl
CA355771775 rs1249297733	816	I>F		No	ClinGen gnomAD
rs1263174081 CA355771762	818	V>A		No	ClinGen TOPMed
CA2756799 rs779550911	818	V>M		No	ClinGen ExAC gnomAD
rs771654085 CA2756798	820	G>E		No	ClinGen ExAC gnomAD
CA355771737 rs1181183838	822	V>A		No	ClinGen TOPMed gnomAD
rs1441693985	823	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355771701 rs1297049977	827	S>C		No	ClinGen TOPMed
rs754200171 CA2756793	831	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA2756792 rs761966365	833	S>C		No	ClinGen ExAC TOPMed gnomAD
CA355771661 rs756558635 CA2756791	833	S>R		No	ClinGen ExAC gnomAD
CA355771659 rs372746599	834	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2756790 rs372746599	834	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA2756789 rs551706093	835	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2756788 rs754987441	840	K>E		No	ClinGen ExAC gnomAD
CA2756787 rs751844627	840	K>I		No	ClinGen ExAC TOPMed gnomAD
rs1362917312 CA355771608	841	L>*		No	ClinGen gnomAD
CA355771362 rs1285047855	844	Y>H		No	ClinGen TOPMed
CA2756769 rs781517297	845	V>M		No	ClinGen ExAC
rs199531644 CA89790277	846	G>A		No	ClinGen Ensembl
rs1282623128 CA355771333	846	G>R		No	ClinGen TOPMed gnomAD
TCGA novel	847	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355771315 rs1202503386	847	M>T		No	ClinGen gnomAD
rs755151644 CA2756768	848	C>S		No	ClinGen ExAC gnomAD
rs751575510 CA2756767	849	G>E		No	ClinGen ExAC gnomAD
CA355771277 rs1232251535	850	D>N		No	ClinGen gnomAD
CA355771235 rs1299778660	853	N>Y		No	ClinGen gnomAD
CA2756765 rs758626416	854	D>N		No	ClinGen ExAC TOPMed gnomAD
CA89790269 rs900131305	855	C>R		No	ClinGen TOPMed
rs753717942 CA2756764	855	C>Y		No	ClinGen ExAC gnomAD
rs113530800 CA89790265	856	G>R		No	ClinGen TOPMed gnomAD
rs149959340 CA355771021	860	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2756746 rs149959340	860	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA89789815 rs369630245	862	H>R		No	ClinGen ESP
CA355771003 rs752423970	863	A>E		No	ClinGen ExAC gnomAD
CA2756744 rs752423970	863	A>G		No	ClinGen ExAC gnomAD
rs759328602 CA2756742	864	G>D		No	ClinGen ExAC gnomAD
CA2756743 rs767507761	864	G>S		No	ClinGen ExAC gnomAD
CA2756741 rs751087479	865	I>L		No	ClinGen ExAC gnomAD
CA89789807 rs866256714	866	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA355770973 rs1484164068	869	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765919318 CA2756740	873	S>P		No	ClinGen ExAC gnomAD
TCGA novel	875	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	875	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355770927 rs1203988884	875	A>V		No	ClinGen gnomAD
CA355770921 rs1436152172	876	S>F		No	ClinGen gnomAD
rs762416120 CA2756739	877	P>T		No	ClinGen ExAC gnomAD
CA2756738 rs760012300	879	T>I		No	ClinGen ExAC TOPMed gnomAD
CA355770895 rs1165257825	881	K>E		No	ClinGen TOPMed
rs769315853 CA2756737	882	T>I		No	ClinGen ExAC TOPMed gnomAD
rs769315853 CA355770885	882	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2756736 rs762250043	883	T>A		No	ClinGen ExAC TOPMed gnomAD
rs982521218 CA89789793	883	T>S		No	ClinGen TOPMed
CA2756734 rs776794032	886	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1435960007 CA355770858	886	Q>H		No	ClinGen TOPMed
rs1352226559 CA355770856	887	C>R		No	ClinGen gnomAD
rs1018409282 CA89789789	888	V>M		No	ClinGen TOPMed gnomAD
rs769235600 CA2756733	890	H>Q		No	ClinGen ExAC gnomAD
CA89789783 rs150829984	891	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
TCGA novel	891	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	892	I>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776828888 CA89789778	892	I>L		No	ClinGen ExAC gnomAD
CA355770823 rs1380870197	892	I>M		No	ClinGen TOPMed
rs545484319 CA89789774	892	I>T		No	ClinGen 1000Genomes
rs776828888 CA2756731	892	I>V		No	ClinGen ExAC gnomAD
CA2756708 rs536144537	895	G>A		No	ClinGen 1000Genomes ExAC gnomAD
CA2756707 rs567480587	896	R>*		No	ClinGen ExAC TOPMed gnomAD
CA89788544 rs573530240	896	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2756706 rs573530240	896	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1333803959 CA355769693	897	A>T		No	ClinGen TOPMed
rs553813639 CA2756705	898	A>G		No	ClinGen 1000Genomes ExAC gnomAD
rs778021933 CA2756704	899	L>P		No	ClinGen ExAC TOPMed gnomAD
rs778021933 CA89788539	899	L>R		No	ClinGen ExAC TOPMed gnomAD
CA2756703 rs545966151	900	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355769628 rs1393318983	902	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs140697178 CA2756702	903	F>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	905	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	905	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779977926 CA2756701	907	K>*		No	ClinGen ExAC gnomAD
rs147279605 CA2756699	910	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs773538500 CA2756698	911	M>T		No	ClinGen ExAC gnomAD
rs200528703 CA2756696	913	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA355769332 rs1277612934	914	I>K		No	ClinGen gnomAD
CA2756694 rs761182362	915	I>L		No	ClinGen ExAC gnomAD
CA355769273 rs1577334792	916	Q>*		No	ClinGen Ensembl
CA355769264 rs1577334787	916	Q>R		No	ClinGen Ensembl
rs368008053 CA2756690	923	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA355768662 rs1577333606	926	Q>L		No	ClinGen Ensembl
rs1463137727 CA355768643	927	L>R		No	ClinGen gnomAD
rs762953993 CA2756670	928	Q>H		No	ClinGen ExAC gnomAD
rs766892655 CA355768633	928	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA2756671 rs766892655	928	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA355768618 rs1296478641	929	L>H		No	ClinGen TOPMed gnomAD
TCGA novel	932	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773274737 CA2756669	933	Y>C		No	ClinGen ExAC gnomAD
rs773274737 CA355768495	933	Y>S		No	ClinGen ExAC gnomAD
CA2756668 rs770032307	934	Q>K		No	ClinGen ExAC gnomAD
CA2756666 rs776811866	935	Y>C		No	ClinGen ExAC gnomAD
CA2756667 rs761973937	935	Y>H		No	ClinGen ExAC gnomAD
rs143912053 CA2756664	938	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355768262 rs1276147959	940	V>A		No	ClinGen TOPMed gnomAD
CA2756663 rs201367354	940	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2756662 rs201367354	940	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1577333540 CA355768252	941	A>G		No	ClinGen Ensembl
rs748755390 CA2756661	941	A>S		No	ClinGen ExAC gnomAD
rs1560120107 CA355768245	942	I>V		No	ClinGen Ensembl
CA2756660 rs572559906	943	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs755856909 CA2756659	944	L>F		No	ClinGen ExAC gnomAD
CA355768160 rs1333115709	945	M>T		No	ClinGen gnomAD
CA355874332 rs1156451107	950	M>I		No	ClinGen gnomAD
CA2756635 rs781002599	951	S>C		No	ClinGen ExAC gnomAD
CA355874320 rs1395185671	952	S>L		No	ClinGen gnomAD
rs755635992 CA90513774	953	T>S		No	ClinGen gnomAD
CA90513772 rs187660788	955	A>D		No	ClinGen 1000Genomes
rs754590482 CA2756634	957	P>A		No	ClinGen ExAC gnomAD
rs1244278541 CA355874280	958	K>N		No	ClinGen gnomAD
rs1022231450 CA90513771	960	A>T		No	ClinGen TOPMed
CA2756632 rs565671019	960	A>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	961	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA90513770 rs867252383	961	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs112228820 CA355874259	962	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA355874262 rs1486092350	962	Y>C		No	ClinGen gnomAD
CA2756630 rs758666573	962	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1232092454 CA355874239	965	A>V		No	ClinGen gnomAD
rs538741347 CA2756628	966	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1332515573 CA355874238	966	G>R		No	ClinGen gnomAD
rs538741347 CA355874234	966	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753858029 CA2756626	967	Q>E		No	ClinGen ExAC gnomAD
rs753858029 CA2756627	967	Q>K	Variant assessed as Somatic; 0.0001391 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749887523 CA2756625	967	Q>R		No	ClinGen ExAC gnomAD
CA2756624 rs569739870	968	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA2756623 rs774040191	969	L>F		No	ClinGen ExAC gnomAD
TCGA novel	970	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	973	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766248821 CA355874193	974	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1422356927 CA355874186	975	L>F		No	ClinGen gnomAD
rs762814381 CA2756621	976	S>A		No	ClinGen ExAC gnomAD
CA2756620 rs773354921	976	S>L		No	ClinGen ExAC TOPMed gnomAD
rs894987960 CA90513768	977	I>V		No	ClinGen TOPMed gnomAD
rs769791792 CA2756619	978	F>L		No	ClinGen ExAC gnomAD
CA2756618 rs747678157	981	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA355874146 rs747678157	981	S>Y		No	ClinGen ExAC gnomAD
CA2756617 rs373062003	982	C>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA2756616 rs373062003	982	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA355874126 rs1275074831	984	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	985	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355874115 rs1196334636	986	I>L		No	ClinGen gnomAD
CA2756614 rs182661663 CA355874098	988	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs191987914 CA2756613	989	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2756612 rs746226695	989	I>N		No	ClinGen ExAC gnomAD
TCGA novel	991	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355874079 rs1389497257	991	A>V		No	ClinGen gnomAD
rs1445227448 CA355874068	993	L>F		No	ClinGen gnomAD
CA355874066 rs1192375625	993	L>H		No	ClinGen TOPMed
CA2756610 rs149431762	995	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2756609 rs149431762	995	V>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764191366 CA2756608	996	K>R		No	ClinGen ExAC TOPMed gnomAD
rs202114564 CA90513767	998	Q>P		No	ClinGen Ensembl
CA2756607 rs756112687	1000	W>R		No	ClinGen ExAC gnomAD
CA90513765 rs766446788	1003	E>K		No	ClinGen Ensembl
TCGA novel	1005	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs547668294 CA90513764	1006	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs547668294 CA2756605	1006	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA2756604 rs762849159	1008	S>R		No	ClinGen ExAC TOPMed gnomAD
CA355873918 rs1236327879	1013	A>T		No	ClinGen gnomAD
rs145171636 CA2756589	1015	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2756587 rs778117458	1016	S>I		No	ClinGen ExAC gnomAD
CA2756585 rs756271448	1017	N>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1019	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355873874 rs1190318163	1019	S>P		No	ClinGen TOPMed
rs752657089 CA2756584	1020	T>I		No	ClinGen ExAC gnomAD
rs767797829 CA2756583	1021	N>T		No	ClinGen ExAC gnomAD
TCGA novel	1027	N>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1028	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2756580 rs372940991	1030	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs765165738 CA2756579	1032	A>E		No	ClinGen ExAC gnomAD
CA2756578 rs188934438	1034	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753872592 CA2756577	1036	P>H		No	ClinGen ExAC gnomAD
rs941746605 CA90513277	1037	G>D		No	ClinGen TOPMed gnomAD
rs1396992691 CA355873746	1039	I>V		No	ClinGen gnomAD
rs760237068 CA2756574	1041	S>R		No	ClinGen ExAC gnomAD
CA2756575 rs763933886	1041	S>R		No	ClinGen ExAC gnomAD
rs201771659 CA2756573	1043	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355873701 rs1242378383	1045	T>I		No	ClinGen gnomAD
CA2756569 rs773959551	1046	T>I		No	ClinGen ExAC TOPMed gnomAD
CA355873694 rs1577324024	1047	L>V		No	ClinGen Ensembl
rs749598840 CA2756567	1048	W>*		No	ClinGen ExAC gnomAD
rs1314427391 CA355873677	1049	P>L		No	ClinGen gnomAD
CA2756564 rs6787746 VAR_043616	1053	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA355873641 rs1286163414	1055	Y>D		No	ClinGen TOPMed
CA2756563 rs748284542	1057	T>I		No	ClinGen ExAC gnomAD
rs993976648 CA90513275	1057	T>P		No	ClinGen Ensembl
CA2756562 rs781095122	1059	A>T		No	ClinGen ExAC gnomAD
CA355873614 rs1239673321	1059	A>V		No	ClinGen TOPMed
CA2756561 rs755079721	1060	F>C		No	ClinGen ExAC gnomAD
CA90513274 rs532977054	1061	I>T		No	ClinGen TOPMed gnomAD
CA90513273 rs146659714	1064	K>E		No	ClinGen ESP TOPMed gnomAD
rs780411800 CA2756559	1065	G>R		No	ClinGen ExAC gnomAD
CA2756558 rs757185907	1066	K>Q		No	ClinGen ExAC gnomAD
rs1577323953 CA355873562	1067	P>L		No	ClinGen Ensembl
TCGA novel	1067	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753509516 CA2756557	1069	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2756556 rs764104661 COSM1042606	1069	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA2756555 rs538898502	1071	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs752281390 CA2756554	1072	I>L		No	ClinGen ExAC gnomAD
rs375097758 CA90513272	1074	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs375097758 CA2756553	1074	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2756531 rs751000415	1077	I>R		No	ClinGen ExAC TOPMed gnomAD
CA355873487 rs751000415	1077	I>T		No	ClinGen ExAC TOPMed gnomAD
rs754546222 CA2756532	1077	I>V		No	ClinGen ExAC gnomAD
rs765451948 CA90512676	1078	F>Y		No	ClinGen Ensembl
TCGA novel	1079	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1337362319 CA355873472	1080	F>L		No	ClinGen gnomAD
CA355873455 rs1190504216	1082	L>P		No	ClinGen TOPMed gnomAD
CA90512675 rs995020305	1083	L>P		No	ClinGen TOPMed
CA355873433 rs1450391333	1086	L>F		No	ClinGen TOPMed
rs1244361447 CA355873429	1087	G>C		No	ClinGen gnomAD
CA2756530 rs144724475	1089	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA355873401 rs1482313543	1091	F>I		No	ClinGen TOPMed gnomAD
CA90512674 rs1000693551	1092	I>F		No	ClinGen TOPMed
rs1392024988 CA355873363	1093	L>P		No	ClinGen gnomAD
COSM1537438 CA2756528 rs762477750	1102	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2756527 rs772892546	1102	R>H		No	ClinGen ExAC TOPMed gnomAD
CA2756526 rs765570766	1103	G>V		No	ClinGen ExAC gnomAD
CA2756508 rs750102175	1107	I>V		No	ClinGen ExAC gnomAD
CA355873114 rs1488065539	1109	T>A		No	ClinGen gnomAD
CA2756507 rs764940133	1110	I>T		No	ClinGen ExAC gnomAD
rs1236515873 CA355873099	1111	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs532653003 CA90512411	1111	T>S		No	ClinGen 1000Genomes
CA2756506 rs762089471	1112	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777079199 CA2756505	1113	W>C		No	ClinGen ExAC gnomAD
TCGA novel	1113	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1319983718 CA355873079	1114	R>S		No	ClinGen gnomAD
rs1400258958 CA355873078	1115	V>I		No	ClinGen gnomAD
CA90512410 rs1022953834	1120	V>A		No	ClinGen TOPMed
CA2756501 rs776107014	1120	V>I		No	ClinGen ExAC
CA90512408 rs1012541437	1121	A>T		No	ClinGen TOPMed
CA355873035 rs1560109038	1122	L>V		No	ClinGen Ensembl
rs1577317747 CA355873025	1123	T>I		No	ClinGen Ensembl
rs771113074 CA2756498	1125	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2756496 rs140754891	1126	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA355872992 rs1477627450	1128	A>T		No	ClinGen gnomAD
rs1015230325 CA90512407	1129	F>L		No	ClinGen TOPMed
VAR_043617 CA2756494 rs2271791	1131	V>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1005889755 CA90512406	1131	V>I		No	ClinGen Ensembl
CA2756474 rs746803210	1135	I>V		No	ClinGen ExAC TOPMed
rs1255865464 CA355872904	1137	Q>R		No	ClinGen gnomAD
CA90512259 rs373312349	1139	H>R		No	ClinGen Ensembl
CA355872881 rs1217769782	1140	E>G		No	ClinGen TOPMed
CA355872885 rs1229709124	1140	E>Q		No	ClinGen gnomAD
rs779862591 CA2756473	1142	W>S		No	ClinGen ExAC gnomAD
rs547378846 CA2756470	1145	I>F		No	ClinGen 1000Genomes ExAC gnomAD
rs547378846 CA2756471	1145	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2756468 rs753592123	1146	K>I		No	ClinGen ExAC gnomAD
CA2756469 rs527714040	1146	K>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA355872840 rs1446570816	1147	R>G		No	ClinGen gnomAD
rs1461567097 CA355872833	1148	E>Q		No	ClinGen gnomAD
rs756610216 CA2756466	1151	F>C		No	ClinGen ExAC gnomAD
CA355872808 rs756610216	1151	F>Y		No	ClinGen ExAC gnomAD
CA90512258 rs866449592	1153	S>F		No	ClinGen Ensembl
CA2756464 rs142600681	1154	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs142600681 CA2756465	1154	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs565215646 CA2756463	1154	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767922033 CA2756462	1155	S>I		No	ClinGen ExAC gnomAD
rs199830865 CA2756460	1157	Y>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs998823825 CA90512257	1159	T>I		No	ClinGen TOPMed
rs368507651 CA90512256	1160	W>*		No	ClinGen ESP TOPMed gnomAD
CA2756456 rs536822723	1162	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2756457 rs777015632	1162	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1322012626 CA355872731	1162	K>R		No	ClinGen gnomAD
rs771933944 CA2756454	1163	K>N		No	ClinGen ExAC gnomAD
rs775306817 CA2756455	1163	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA355872712 rs1375242335	1166	E>K		No	ClinGen gnomAD
CA2756453 rs200117973	1167	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs575706144 CA2756452	1168	S>L		No	ClinGen ExAC TOPMed gnomAD
rs200436579 CA90512254	1171	P>A		No	ClinGen 1000Genomes
CA355872675 rs990027280	1171	P>H		No	ClinGen TOPMed
CA90512253 rs990027280	1171	P>L		No	ClinGen TOPMed
TCGA novel	1172	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA355872663 rs188756416	1173	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748799196 CA2756450	1173	I>R		No	ClinGen ExAC gnomAD
rs770622583 CA2756451	1173	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1381035575 CA355872648	1175	R>S		No	ClinGen TOPMed gnomAD
CA355872643 rs755766325	1176	T>I		No	ClinGen ExAC TOPMed gnomAD
rs755766325 CA2756448	1176	T>K		No	ClinGen ExAC TOPMed gnomAD
rs1439026092 CA355872621	1179	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA355872617 rs1378395655	1180	G>D		No	ClinGen TOPMed gnomAD
CA355872613 rs1488669160	1181	D>N		No	ClinGen gnomAD
rs1443104971 CA355872606	1182	G>S		No	ClinGen TOPMed
rs781652430 CA2756446	1184	N>H		No	ClinGen ExAC gnomAD
CA90512251 rs937735317	1184	N>T		No	ClinGen TOPMed gnomAD
rs906299367 CA90512250	1185	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA355872577 rs755279570	1186	F>C		No	ClinGen ExAC gnomAD
rs201331139 CA2756443	1186	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2756444 rs755279570	1186	F>S		No	ClinGen ExAC gnomAD
rs758479666 CA2756441	1187	Y>C		No	ClinGen ExAC gnomAD
CA2756442 rs554743528	1187	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765467604 CA2756439	1188	I>V		No	ClinGen ExAC TOPMed gnomAD
rs114013184 CA2756436	1190	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759236688 CA2756435	1191	G>R		No	ClinGen ExAC TOPMed gnomAD
rs867031124 CA90512248	1193	E>K		No	ClinGen Ensembl
CA355872502 rs1370005457	1197	Q>R		No	ClinGen TOPMed
rs1433649791 CA355872491	1199	P>A		No	ClinGen gnomAD
CA355872486 rs1424239651	1199	P>L		No	ClinGen TOPMed gnomAD
CA355872474 rs1325204189	1201	R>T		No	ClinGen gnomAD
rs7428010 CA2756432	1204	K>*		No	ClinGen ExAC gnomAD
VAR_043618 rs7428010 CA90512246	1204	K>Q		No	ClinGen UniProt ExAC dbSNP gnomAD
CA2756431 rs773544544	1208	Q>*		No	ClinGen ExAC gnomAD
CA355872400 rs1440979319	1212	Q>R		No	ClinGen gnomAD
TCGA novel CA355872387 rs1396087464	1214	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen gnomAD NCI-TCGA
CA90512244 rs145659956	1216	A>T		No	ClinGen ESP TOPMed
rs567445309 RCV000964844	1218	L>missing		No	ClinVar dbSNP

No associated diseases with Q4VNC0

4 regional properties for Q4VNC0

Type	Name	Position	InterPro Accession
domain	Cation-transporting P-type ATPase, N-terminal	163 - 211	IPR004014
ptm	P-type ATPase, phosphorylation site	486 - 492	IPR018303
domain	P-type ATPase, haloacid dehalogenase domain	466 - 897	IPR044492
domain	P5B-type ATPase, N-terminal	17 - 142	IPR047819

Functions

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

3 GO annotations of cellular component

Name	Definition
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
ATPase-coupled cation transmembrane transporter activity	Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: ATP + H2O + cation(out) = ADP + phosphate + cation(in).
metal ion binding	Binding to a metal ion.
P-type transmembrane transporter activity	Primary active transporter that auto-phosphorylates (hence P) at a key conserved aspartate residue, generating a conformational change that allows transport of the substrate. Hydrolysis of the phosphorylated Asp residue, catalyzed by the actuator (A) domain, results in another state with occluded substrates. Upon dissociation of Mg2+ and inorganic phosphate (Pi), the enzyme reverts to the initial state, in which the counter-transported substrate is released into the cytosol.

3 GO annotations of biological process

Name	Definition
cellular calcium ion homeostasis	Any process involved in the maintenance of an internal steady state of calcium ions at the level of a cell.
ion transmembrane transport	A process in which an ion is transported across a membrane.
transmembrane transport	The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9H7F0	ATP13A3	Polyamine-transporting ATPase 13A3	Homo sapiens (Human)	PR
Q9CTG6	Atp13a2	Polyamine-transporting ATPase 13A2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEENSKKDHR	ALLNQGEEDE	LEVFGYRDHN	VRKAFCLVAS	VLTCGGLLLV	FYWRPQWRVW
70	80	90	100	110	120
ANCIPCPLQE	ADTVLLRTTD	EFQRYMRKKV	FCLYLSTLKF	PVSKKWEESL	VADRHSVINQ
130	140	150	160	170	180
ALIKPELKLR	CMEVQKIRYV	WNDLEKRFQK	VGLLEDSNSC	SDIHQTFGLG	LTSEEQEVRR
190	200	210	220	230	240
LVCGPNAIEV	EIQPIWKLLV	KQVLNPFYVF	QAFTLTLWLS	QGYIEYSVAI	IILTVISIVL
250	260	270	280	290	300
SVYDLRQQSV	KLHNLVEDHN	KVQVTIIVKD	KGLEELESRL	LVPGDILILP	GKFSLPCDAV
310	320	330	340	350	360
LIDGSCVVNE	GMLTGESIPV	TKTPLPQMEN	TMPWKCHSLE	DYRKHVLFCG	TEVIQVKPSG
370	380	390	400	410	420
QGPVRAVVLQ	TGYNTAKGDL	VRSILYPRPL	NFKLYSDAFK	FIVFLACLGV	MGFFYALGVY
430	440	450	460	470	480
MYHGVPPKDT	VTMALILLTV	TVPPVLPAAL	TIGNVYAQKR	LKKKKIFCIS	PQRINMCGQI
490	500	510	520	530	540
NLVCFDKTGT	LTEDGLDLWG	TVPTADNCFQ	EAHSFASGQA	VPWSPLCAAM	ASCHSLILLN
550	560	570	580	590	600
GTIQGDPLDL	KMFEGTAWKM	EDCIVDSCKF	GTSVSNIIKP	GPKASKSPVE	AIITLCQFPF
610	620	630	640	650	660
SSSLQRMSVI	AQLAGENHFH	VYMKGAPEMV	ARFCRSETVP	KNFPQELRSY	TVQGFRVIAL
670	680	690	700	710	720
AHKTLKMGNL	SEVEHLAREK	VESELTFLGL	LIMENRLKKE	TKLVLKELSE	ARIRTVMITG
730	740	750	760	770	780
DNLQTAITVA	KNSEMIPPGS	QVIIVEADEP	EEFVPASVTW	QLVENQETGP	GKKEIYMHTG
790	800	810	820	830	840
NSSTPRGEGG	SCYHFAMSGK	SYQVIFQHFN	SLLPKILVNG	TVFARMSPGQ	KSSLIEEFQK
850	860	870	880	890	900
LNYYVGMCGD	GANDCGALKA	AHAGISLSEQ	EASVASPFTS	KTTNIQCVPH	LIREGRAALV
910	920	930	940	950	960
SSFGVFKYLT	MYGIIQFISA	LLLYWQLQLF	GNYQYLMQDV	AITLMVCLTM	SSTHAYPKLA
970	980	990	1000	1010	1020
PYRPAGQLLS	PPLLLSIFLN	SCFSCIVQIS	AFLYVKQQPW	YCEVYQYSEC	FLANQSNFST
1030	1040	1050	1060	1070	1080
NVSLERNWTG	NATLIPGSIL	SFETTTLWPI	TTINYITVAF	IFSKGKPFRK	PIYTNYIFSF
1090	1100	1110	1120	1130	1140
LLLAALGLTI	FILFSDFQVI	YRGMELIPTI	TSWRVLILVV	ALTQFCVAFF	VEDSILQNHE
1150	1160	1170	1180	1190	1200
LWLLIKREFG	FYSKSQYRTW	QKKLAEDSTW	PPINRTDYSG	DGKNGFYING	GYESHEQIPK
1210
RKLKLGGQPT	EQHFWARL