AiPD: Autoinhibited Protein Database

P42356

Gene name	PI4KA (PIK4, PIK4CA)
Protein name	Phosphatidylinositol 4-kinase alpha
Names	PI4-kinase alpha, PI4K-alpha, PtdIns-4-kinase alpha, Phosphatidylinositol 4-Kinase III alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5297
EC number	2.7.1.67: Phosphotransferases with an alcohol group as acceptor
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

155-247 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

155-247 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

1975-1997 (Activation loop from InterPro)

Target domain	1808-2099 (Phosphatidylinositol 3-/4-kinase, catalytic domain)
Relief mechanism
Assay

References

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

Autoinhibited structure

Activated structure

2 structures for P42356

Entry ID	Method	Resolution	Chain	Position	Source
6BQ1	EM	360 A	A/E	932-2102	PDB
AF-P42356-F1	Predicted				AlphaFoldDB

1535 variants for P42356

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs759091754 VAR_086468 CA10116849	119	R>W	NEDSPLB; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
CA204214 RCV000190205 rs796052191	141	D>N	Long QT syndrome [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA10116787 rs185657767 RCV001331586	167	M>I	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs764985938 RCV000190239 CA204297	304	I>M	Long QT syndrome [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
rs1935729656 RCV001331585	359	N>S	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [ClinVar]	Yes	ClinVar dbSNP
VAR_086469 CA410759735 rs1298440445	472	S>R	NEDSPLB; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
VAR_086470	566	R>del	NEDSPLB [UniProt]	Yes	UniProt
VAR_086471	618	R>del	NEDSPLB [UniProt]	Yes	UniProt
CA410767656 rs1490645147 VAR_086472	777	L>P	NEDSPLB [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
rs1932452329 RCV001089953	796	R>missing	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [ClinVar]	Yes	ClinVar dbSNP
CA251301 rs777006911 RCV000190465	796	R>*	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_086473	796	R>del	NEDSPLB [UniProt]	Yes	UniProt
RCV001335318 rs1932362121	895	S>F	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [ClinVar]	Yes	ClinVar dbSNP
RCV001336863 rs144933467	1092	S>*	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [ClinVar]	Yes	ClinVar dbSNP
CA410760990 VAR_086474 rs1351749039	1152	E>K	NEDSPLB; unknown pathological significance [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
VAR_086475	1191	Q>del	NEDSPLB [UniProt]	Yes	UniProt
VAR_086476	1198	A>T	NEDSPLB; unknown pathological significance [UniProt]	Yes	UniProt
VAR_086477	1295	H>R	NEDSPLB; unknown pathological significance [UniProt]	Yes	UniProt
rs144363917 CA10115010 VAR_086478	1556	V>M	SPG84; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_086479 CA10114932 rs776650691	1623	Y>D	GIDID2; decreased interaction with TTC7A resulting in reduced PI4K complex stability; no effect on kinase activity [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
CA322249598 rs888913273 VAR_086480	1664	D>N	NEDSPLB [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP gnomAD
VAR_086481	1720	T>I	SPG84; unknown pathological significance [UniProt]	Yes	UniProt
CA10114782 VAR_086482 rs142690596	1733	R>W	NEDSPLB; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ESP ExAC dbSNP
VAR_086483	1808	K>T	NEDSPLB [UniProt]	Yes	UniProt
VAR_086484	1820	E>del	SPG84; unknown pathological significance [UniProt]	Yes	UniProt
rs760261849 RCV001007769 CA10114631	1838	D>N	Variant assessed as Somatic; 0.0 impact. Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs747119727 RCV000190466 RCV001311593 CA251303 VAR_074640	1854	D>N	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis NEDSPLB; loss of kinase activity; no effect on protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
RCV000762048 RCV002485975 rs368442314 CA10114605	1866	D>N	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001007770 rs1925470890	1882	F>S	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis [ClinVar]	Yes	ClinVar dbSNP
VAR_086485	1925	G>E	NEDSPLB [UniProt]	Yes	UniProt
CA10114567 VAR_086486 rs773127016	1925	G>R	NEDSPLB; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
VAR_086487	1937	Y>C	NEDSPLB [UniProt]	Yes	UniProt
CA10114475 rs770450191 VAR_086488	1987	N>S	NEDSPLB; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
rs1601301648 VAR_086489 CA410743441	2041	M>T	NEDSPLB; unknown pathological significance [UniProt]	Yes	ClinGen UniProt Ensembl dbSNP
rs1023439336 CA322277265	2	A>T		No	ClinGen Ensembl
rs1412765426 CA410771893	2	A>V		No	ClinGen TOPMed
CA410771877 rs1247648245	3	A>E		No	ClinGen gnomAD
rs1292231425 CA410771890	3	A>T		No	ClinGen gnomAD
CA410771875 rs1247648245	3	A>V		No	ClinGen gnomAD
CA322277252 rs1016890654	4	A>V		No	ClinGen TOPMed gnomAD
rs1006813778 CA322277240	5	P>L		No	ClinGen TOPMed
rs1006813778 CA410771845	5	P>Q		No	ClinGen TOPMed
CA410771848 rs1569110275	5	P>S		No	ClinGen Ensembl
CA10116932 rs745866581	6	A>G		No	ClinGen ExAC TOPMed gnomAD
CA10116931 rs781244577	7	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1350770419 CA410771784	9	G>S		No	ClinGen gnomAD
CA410771737 rs1165924848	11	G>D		No	ClinGen gnomAD
CA410771682 rs1323628121	14	G>E		No	ClinGen gnomAD
rs532050128 RCV000948115	15	G>missing		No	ClinVar dbSNP
RCV001819129 rs551553536 RCV000972991	15	G>missing		No	ClinVar dbSNP
CA322277183 rs1029515735	16	G>A		No	ClinGen TOPMed
rs532050128 RCV000882073 RCV001817076	17	G>missing		No	ClinVar dbSNP
CA410771622 rs1389825638	17	G>C		No	ClinGen gnomAD
CA410771611 rs1430327873	18	G>C		No	ClinGen gnomAD
CA410771608 rs1265394700	18	G>D		No	ClinGen gnomAD
rs532050128 RCV000968791 RCV001819086	18	G>GG		No	ClinVar dbSNP
CA410771615 rs1430327873	18	G>S		No	ClinGen gnomAD
rs1569110071 CA410771575	20	S>A		No	ClinGen Ensembl
rs758581485 CA10116925	20	S>F		No	ClinGen ExAC TOPMed gnomAD
CA410771572 rs758581485	20	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1055010771 CA322277163	23	G>R		No	ClinGen TOPMed gnomAD
CA410771541 rs1055010771	23	G>S		No	ClinGen TOPMed gnomAD
CA322277162 rs1041974724	24	S>P		No	ClinGen TOPMed gnomAD
CA322277157 rs934251599	26	A>T		No	ClinGen TOPMed gnomAD
rs922735480 CA322277150	28	R>W		No	ClinGen Ensembl
rs1425089966 CA410771451	29	G>D		No	ClinGen TOPMed
rs975613876 CA322277147	31	Y>C		No	ClinGen TOPMed gnomAD
rs1334667531 CA410771374	34	T>M		No	ClinGen TOPMed
rs1346766159 CA410771358	35	V>A		No	ClinGen gnomAD
CA10116923 rs752775142	39	A>V		No	ClinGen ExAC TOPMed gnomAD
CA410771311 rs1463723399	40	R>C		No	ClinGen gnomAD
CA322277138 rs918376885	41	S>F		No	ClinGen TOPMed
rs1437345673 CA410771284	42	L>P		No	ClinGen TOPMed
rs984417484 CA322277126	43	A>S		No	ClinGen TOPMed gnomAD
rs984417484 CA322277130	43	A>T		No	ClinGen TOPMed gnomAD
rs865872324 CA322277121	43	A>V		No	ClinGen Ensembl
CA322277113 rs186489153	48	A>P		No	ClinGen 1000Genomes TOPMed gnomAD
CA410771179 rs1182827954	49	S>A		No	ClinGen TOPMed
CA322277109 rs909554862	49	S>F		No	ClinGen TOPMed gnomAD
rs542247538 CA10116921	50	L>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410771133 rs1250843449	51	E>V		No	ClinGen TOPMed gnomAD
CA322277089 rs1025286703	52	K>N		No	ClinGen TOPMed gnomAD
rs757202166 CA10116903	59	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1241680014 CA410767888	60	C>Y		No	ClinGen gnomAD
rs1338919763 CA410767877	62	V>M		No	ClinGen gnomAD
TCGA novel	63	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410767816 rs1312224376	70	L>*		No	ClinGen gnomAD
CA410767786 rs1455572068	74	R>Q		No	ClinGen gnomAD
rs754997245 CA10116900	74	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1384211987 CA410767773	76	D>G		No	ClinGen gnomAD
CA10116898 rs766475127	77	A>V		No	ClinGen ExAC TOPMed gnomAD
rs756526944 CA10116897	78	V>A		No	ClinGen ExAC gnomAD
CA322264945 rs982994050	82	G>C		No	ClinGen Ensembl
CA10116895 rs768018403	82	G>D		No	ClinGen ExAC gnomAD
rs1186200615 CA410767723	84	F>C		No	ClinGen gnomAD
rs1464818937 CA410767716	85	L>R		No	ClinGen gnomAD
CA410767708 rs1248851681	87	E>K		No	ClinGen TOPMed
CA410767696 rs1207438136	88	S>C		No	ClinGen gnomAD
CA410767688 rs1437652297	89	D>E		No	ClinGen TOPMed
CA10116893 rs774827427	90	L>F		No	ClinGen ExAC gnomAD
rs763711045 CA10116892	91	Q>*		No	ClinGen ExAC gnomAD
rs1302272580 CA410767580	92	H>R		No	ClinGen gnomAD
CA322263040 rs560850204	94	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10116864 rs560850204	94	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1367241143 CA410767540	95	C>Y		No	ClinGen gnomAD
rs142318994 CA10116863	97	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs749395618 CA10116862	98	P>L		No	ClinGen ExAC gnomAD
rs749395618 CA410767499	98	P>R		No	ClinGen ExAC gnomAD
rs769854674 CA10116859	100	L>V		No	ClinGen ExAC gnomAD
CA410767457 rs1429259050	101	L>H		No	ClinGen gnomAD
CA10116858 rs746138962	102	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs575366622 CA10116857	104	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA410767428 rs1250071088	104	L>P		No	ClinGen gnomAD
CA410767414 rs1204624562	105	K>R		No	ClinGen gnomAD
CA10116856 rs757649747	106	G>C		No	ClinGen ExAC gnomAD
rs751822675 CA10116855	108	P>L		No	ClinGen ExAC TOPMed gnomAD
CA410767374 rs1342761932	109	K>E		No	ClinGen gnomAD
TCGA novel	110	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1601594153 CA410767327	112	W>G		No	ClinGen Ensembl
CA10116853 rs758764648	113	V>I		No	ClinGen ExAC gnomAD
rs1441010690 CA410767265	116	S>G		No	ClinGen TOPMed gnomAD
rs773142944 CA10116850	118	A>T		No	ClinGen ExAC TOPMed gnomAD
rs913112112 CA322262995	119	R>Q		No	ClinGen TOPMed gnomAD
rs753580148 CA10116848	121	G>A		No	ClinGen ExAC gnomAD
CA10116847 rs766085668	122	R>T		No	ClinGen ExAC gnomAD
CA410766016 rs1244871861	123	G>A		No	ClinGen TOPMed
rs767268950 CA10116824	125	L>V		No	ClinGen ExAC gnomAD
CA10116823 rs761639270	126	P>L		No	ClinGen ExAC TOPMed gnomAD
CA322252031 rs761639270	126	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA10116822 rs774187343	128	A>S		No	ClinGen ExAC gnomAD
rs564763169 CA10116821	130	S>N		No	ClinGen 1000Genomes ExAC gnomAD
CA410765859 rs1288761207	132	S>G		No	ClinGen gnomAD
CA410765854 rs1432120681	132	S>N		No	ClinGen gnomAD
CA410765826 rs1205622475	133	F>C		No	ClinGen TOPMed
rs1483591220 CA410765840	133	F>V		No	ClinGen TOPMed
TCGA novel	138	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1189521790 CA410765725	140	S>A		No	ClinGen TOPMed
rs1386139263 CA410765673	144	Y>C		No	ClinGen TOPMed gnomAD
TCGA novel	146	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs184297785 CA10116818	146	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541449532 CA10116817	147	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1261132333 CA410765608	149	L>H		No	ClinGen gnomAD
CA10116816 rs369037415	150	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs772359170 CA10116815	151	D>G		No	ClinGen ExAC gnomAD
CA410765591 rs1486186856	151	D>H		No	ClinGen gnomAD
CA410765590 rs1486186856	151	D>Y		No	ClinGen gnomAD
rs760773781 CA10116791	153	I>V		No	ClinGen ExAC TOPMed gnomAD
CA322249955 rs148813774	155	E>K		No	ClinGen Ensembl
CA10116789 rs149603110	162	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10116788 rs762093919	162	H>R		No	ClinGen ExAC TOPMed gnomAD
CA410765118 rs149603110	162	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA322249946 rs1003215349	164	L>P		No	ClinGen TOPMed
rs768157822 CA322249939	167	M>T		No	ClinGen TOPMed gnomAD
CA410765081 rs1389880608	168	C>R		No	ClinGen gnomAD
CA410765064 rs1396092090	170	A>P		No	ClinGen TOPMed gnomAD
rs1396092090 CA410765065	170	A>T		No	ClinGen TOPMed gnomAD
rs371865226 CA410765038	174	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA322249931 rs371865226	174	Q>K		No	ClinGen ESP TOPMed gnomAD
rs1345467672 CA410765027	175	D>G		No	ClinGen gnomAD
CA410765031 rs1357529410	175	D>Y		No	ClinGen gnomAD
rs749863836 CA10116785	176	K>E		No	ClinGen ExAC gnomAD
rs1480078089 CA410765020	176	K>R		No	ClinGen gnomAD
rs1429719556 CA410765014	177	E>K		No	ClinGen gnomAD
CA410764991 rs1475867782	178	Y>C		No	ClinGen TOPMed
CA410764987 rs1267534077	179	L>I		No	ClinGen gnomAD
rs1245293184 CA410764973	181	K>E		No	ClinGen Ensembl
rs770280687 CA10116764	181	K>R		No	ClinGen ExAC TOPMed gnomAD
CA410764962 rs1380465941	182	Y>C		No	ClinGen gnomAD
rs909613502 CA322249581	184	I>T		No	ClinGen gnomAD
CA322249573 rs983908539	190	I>V		No	ClinGen Ensembl
rs770331574 CA10116761	191	S>L		No	ClinGen ExAC TOPMed gnomAD
rs764843454 CA10116759	192	R>*		No	ClinGen ExAC TOPMed gnomAD
CA322249560 rs1003420207	192	R>L		No	ClinGen gnomAD
CA410764902 rs1003420207	192	R>Q		No	ClinGen gnomAD
CA322249559 rs758217574	194	F>S		No	ClinGen ExAC TOPMed gnomAD
rs758217574 CA10116758	194	F>Y		No	ClinGen ExAC TOPMed gnomAD
rs747885706 CA10116757	196	R>C		No	ClinGen ExAC TOPMed gnomAD
CA10116756 rs367735789	196	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410764879 rs367735789	196	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10116755 rs754874847	198	S>G		No	ClinGen ExAC gnomAD
rs1207303139 CA410764868	198	S>N		No	ClinGen TOPMed gnomAD
CA410764864 rs753709181	198	S>R		No	ClinGen ExAC gnomAD
CA410764854 rs142981958	200	M>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA322249540 rs374168193	200	M>T		No	ClinGen ESP TOPMed gnomAD
CA10116753 rs142981958	200	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757385835 CA10116752	201	E>G		No	ClinGen ExAC gnomAD
rs1176466023 CA410764837	202	E>G		No	ClinGen gnomAD
rs1601566356 CA410764826	204	L>V		No	ClinGen Ensembl
rs1569070876 CA410764819	205	L>F		No	ClinGen Ensembl
rs61752249 CA322249515	206	S>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs61752249 CA10116749	206	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1601566322 CA410764808	207	K>T		No	ClinGen Ensembl
CA10116747 rs765517306	210	P>S		No	ClinGen ExAC gnomAD
rs1569070823 CA410764775	212	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA10116745 rs776980460	213	P>L		No	ClinGen ExAC gnomAD
rs770468103 CA410764760	214	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770468103 CA10116744	214	P>R		No	ClinGen ExAC TOPMed gnomAD
rs746482108 CA10116743	215	H>P		No	ClinGen ExAC gnomAD
CA410764747 rs1195643948	216	S>F		No	ClinGen TOPMed
CA410764751 rs1374199292	216	S>T		No	ClinGen gnomAD
rs202040695 CA10116742	217	L>F		No	ClinGen ExAC gnomAD
CA10116741 rs771651332	218	R>C		No	ClinGen ExAC gnomAD
rs200905233 CA10116740	218	R>H		No	ClinGen ExAC TOPMed gnomAD
rs111784104 CA322249460	221	E>D		No	ClinGen gnomAD
CA10116739 rs778829343	222	E>K		No	ClinGen ExAC gnomAD
rs1432976839 CA410764706	224	E>K		No	ClinGen gnomAD
rs372904436 CA10116738	225	G>R		No	ClinGen ESP ExAC gnomAD
CA322249442 rs1012018579	225	G>V		No	ClinGen TOPMed
rs749292442 CA410764685	226	V>I		No	ClinGen ExAC gnomAD
CA10116737 rs749292442	226	V>L		No	ClinGen ExAC gnomAD
CA10116736 rs779819876	227	R>*		No	ClinGen ExAC TOPMed gnomAD
CA322249437 rs779819876	227	R>G		No	ClinGen ExAC TOPMed gnomAD
rs757435122 CA10116735	227	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10116734 rs751633032	229	R>C		No	ClinGen ExAC TOPMed gnomAD
CA322249431 rs751633032	229	R>G		No	ClinGen ExAC TOPMed gnomAD
rs867285951 CA322249427	229	R>H		No	ClinGen Ensembl
rs758761713 CA10116732	233	D>N		No	ClinGen ExAC
TCGA novel	234	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752847316 CA10116731	235	R>C		No	ClinGen ExAC gnomAD
rs1033050584 CA322249419	237	I>S		No	ClinGen gnomAD
CA10116730 rs765919048	239	P>S		No	ClinGen ExAC gnomAD
rs1463682164 CA410764540	240	S>N		No	ClinGen TOPMed gnomAD
CA410764535 rs1247610874	241	N>H		No	ClinGen TOPMed gnomAD
rs1408814772 CA410764506	244	T>A		No	ClinGen gnomAD
CA410764503 rs1408814772	244	T>S		No	ClinGen gnomAD
rs368518824 CA322249410	245	V>D		No	ClinGen ESP
rs1396637138 CA410764496	245	V>I		No	ClinGen TOPMed gnomAD
rs1396637138 CA410764495	245	V>L		No	ClinGen TOPMed gnomAD
CA322249389 rs972586979	246	C>S		No	ClinGen TOPMed
rs1429021198 CA410764451	248	E>D		No	ClinGen gnomAD
CA410764441 rs1303884468	249	G>D		No	ClinGen TOPMed
TCGA novel	249	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1569070521 CA410764428	251	L>M		No	ClinGen Ensembl
TCGA novel	252	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410764413 rs1200649689	252	K>R		No	ClinGen gnomAD
CA410764384 rs1373020969	254	K>N		No	ClinGen TOPMed
CA410764338 rs1232020886	258	V>A		No	ClinGen TOPMed
CA10116729 rs759788025	259	S>C		No	ClinGen ExAC gnomAD
CA410764288 rs1438401513	263	Q>*		No	ClinGen gnomAD
rs768136256 CA10116701	264	V>I		No	ClinGen ExAC gnomAD
rs1449765498 CA410764173	266	P>A		No	ClinGen TOPMed gnomAD
rs1449765498 CA410764174	266	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	267	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410764147 rs1456231561	268	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs370921524 CA10116698	268	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs781242599 CA10116696	269	G>A		No	ClinGen ExAC TOPMed gnomAD
rs1431705942 CA410764135	269	G>S		No	ClinGen TOPMed
CA410764102 rs1318155482	271	P>R		No	ClinGen gnomAD
rs868374370 CA322248617	271	P>S		No	ClinGen Ensembl
TCGA novel	272	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10116695 rs542138898	273	P>A		No	ClinGen ExAC TOPMed gnomAD
CA322248609 rs1013688867	273	P>L		No	ClinGen TOPMed gnomAD
rs748127980 CA10116694	274	S>N		No	ClinGen ExAC TOPMed gnomAD
rs748127980 CA410764076	274	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1244582201 CA410764056	276	P>A		No	ClinGen TOPMed
TCGA novel	276	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754084136 CA10116692	276	P>L		No	ClinGen ExAC TOPMed gnomAD
rs754084136 CA10116691	276	P>R		No	ClinGen ExAC TOPMed gnomAD
CA410764046 rs1344941412	277	G>R		No	ClinGen TOPMed
rs1206603253 CA410764036	278	G>R		No	ClinGen TOPMed
rs756442114 CA10116689	280	A>V		No	ClinGen ExAC TOPMed gnomAD
rs376838661 CA10116687	281	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs761404323 CA10116686	282	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10116684 rs373620551	283	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs546958255 CA322248570	284	F>C		No	ClinGen 1000Genomes
rs1446523096 CA410763836	285	E>A		No	ClinGen gnomAD
CA410762946 rs1192601228	290	P>L		No	ClinGen gnomAD
rs141199117 CA10116653	291	D>N		No	ClinGen ESP TOPMed gnomAD
rs373463152 CA10116652	291	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA410762920 rs1164461928	292	G>V		No	ClinGen gnomAD
rs758003579 CA10116647	298	E>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	299	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322244981 rs966880545	300	Y>C		No	ClinGen TOPMed gnomAD
rs752196534 CA10116646	304	I>N		No	ClinGen ExAC gnomAD
rs1419723841 CA410762800	304	I>V		No	ClinGen TOPMed gnomAD
CA10116643 rs754741204	305	S>R		No	ClinGen ExAC gnomAD
CA10116642 rs753512063	309	S>*		No	ClinGen ExAC gnomAD
TCGA novel	309	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766133312 CA10116641	310	V>I		No	ClinGen ExAC gnomAD
CA10116640 rs760484745	311	S>F		No	ClinGen ExAC gnomAD
CA410762681 rs1177714722	312	P>L		No	ClinGen gnomAD
rs1177714722 CA410762684	312	P>R		No	ClinGen gnomAD
CA410762691 rs1377995502	312	P>S		No	ClinGen gnomAD
CA10116638 rs202016896	315	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769854860 CA10116635	316	G>D		No	ClinGen ExAC gnomAD
CA10116636 rs149077896	316	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1007055157 CA322244935	318	T>I		No	ClinGen gnomAD
rs368811662 CA10116633	319	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778152447 CA10116630	324	I>T		No	ClinGen ExAC gnomAD
CA10116631 rs747346817	324	I>V		No	ClinGen ExAC TOPMed gnomAD
CA410762434 rs1242346793	325	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772636644 CA10116629	327	E>Q		No	ClinGen ExAC gnomAD
rs116427800 CA10116628	328	M>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410762385 rs1184265149	328	M>V		No	ClinGen TOPMed
rs1470005794 CA410762350	329	L>P		No	ClinGen TOPMed
CA410762347 rs375630332	330	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA10116626 rs374156942	330	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs375630332 CA10116627	330	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA322244911 rs1046034253	331	E>Q		No	ClinGen Ensembl
CA410762309 rs1460367657	332	L>V		No	ClinGen TOPMed
CA410761853 rs1601548587	336	V>G		No	ClinGen Ensembl
rs1473398712 CA410761858	336	V>M		No	ClinGen gnomAD
rs772551012 CA10116608	337	K>N		No	ClinGen ExAC gnomAD
CA410761848 rs1370655294	337	K>R		No	ClinGen TOPMed gnomAD
CA410761849 rs1370655294	337	K>T		No	ClinGen TOPMed gnomAD
CA410761845 rs1428221144	338	K>E		No	ClinGen gnomAD
CA410761838 rs1601548558	338	K>N		No	ClinGen Ensembl
CA10116607 rs61752248	339	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10116606 rs61752248	339	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10116603 rs185036247	340	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779578313 CA10116602	343	A>T		No	ClinGen ExAC gnomAD
rs1472203400 CA410761769	344	V>I		No	ClinGen gnomAD
CA10116601 rs755862755	345	L>F		No	ClinGen ExAC TOPMed
rs755862755 CA410761754	345	L>V		No	ClinGen ExAC TOPMed
rs748264969 CA322243393	347	S>F		No	ClinGen TOPMed gnomAD
rs1339578602 CA410761672	351	I>F		No	ClinGen TOPMed gnomAD
rs1339578602 CA410761674	351	I>V		No	ClinGen TOPMed gnomAD
CA10116599 rs781018382	352	V>L		No	ClinGen ExAC gnomAD
rs751531035 CA10116597	355	V>M		No	ClinGen ExAC gnomAD
CA410761611 rs1189951812	356	M>L		No	ClinGen TOPMed
CA322241798 rs895869033	359	N>K		No	ClinGen Ensembl
rs1055889579 CA322241791	361	S>G		No	ClinGen TOPMed
rs1218896308 CA410761393	361	S>R		No	ClinGen TOPMed
rs756116305 CA10116575	362	A>T		No	ClinGen ExAC gnomAD
CA410761387 rs1458288484	363	D>H		No	ClinGen gnomAD
rs905696699 CA322241779	366	Y>H		No	ClinGen TOPMed
rs542084506 CA10116574	367	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1200460607 CA410761356	367	T>S		No	ClinGen gnomAD
rs1446696540 CA410761334	370	S>I		No	ClinGen TOPMed
CA410761339 rs1219445551	370	S>R		No	ClinGen gnomAD
CA410761323 rs1569056938	372	P>T		No	ClinGen Ensembl
TCGA novel	377	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769380539 CA10116567	377	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1333881705 CA410761291	377	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs376680350 CA10116566	378	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs758081838 CA322241708	379	K>N		No	ClinGen Ensembl
rs776276155 CA10116565	379	K>T		No	ClinGen ExAC gnomAD
CA15997867 rs925953977	380	M>R		No	ClinGen TOPMed
VAR_050531 CA10116564 rs17819211	380	M>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1456758190 CA410761257	382	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs746656003 CA10116563	382	R>H	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	383	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1358228471 CA410761237	385	L>P		No	ClinGen TOPMed
rs777598771 CA10116562	388	M>V		No	ClinGen ExAC gnomAD
rs758106217 CA10116561	389	K>M		No	ClinGen ExAC TOPMed gnomAD
CA10116547 rs759049159	390	D>G		No	ClinGen ExAC gnomAD
CA410760779 rs1218678284	391	L>F		No	ClinGen gnomAD
rs1320625275 CA410760776	391	L>H		No	ClinGen gnomAD
TCGA novel	391	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410760781 rs1218678284	391	L>V		No	ClinGen gnomAD
rs149782040 CA10116546	392	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs556698200 CA410760731	394	S>P		No	ClinGen gnomAD
rs556698200 CA322239892	394	S>T		No	ClinGen gnomAD
rs376685065 CA10116542	395	F>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs142880400 CA10116540	396	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs142880400 CA410760690	396	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs768544870 CA10116539	397	K>Q		No	ClinGen ExAC gnomAD
rs1350548025 CA410760661	397	K>R		No	ClinGen gnomAD
rs1350548025 CA410760663	397	K>T		No	ClinGen gnomAD
rs749226644 CA10116538	399	I>M		No	ClinGen ExAC gnomAD
rs1165329930 CA410760608	399	I>S		No	ClinGen gnomAD
CA410760610 rs1165329930	399	I>T		No	ClinGen gnomAD
rs1206697458 CA410760605	400	H>N		No	ClinGen TOPMed
rs757381753 CA410760585	400	H>Q		No	ClinGen ExAC gnomAD
rs781470852 CA10116537	400	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1478035031 CA410760574	401	D>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs751865470 CA10116535	403	V>M		No	ClinGen ExAC gnomAD
CA10116531 rs140069100	408	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA410760444 rs1316666412	409	T>A		No	ClinGen gnomAD
CA10116530 rs536573684	409	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772938494 CA10116526	412	G>W		No	ClinGen ExAC gnomAD
TCGA novel	413	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410760354 rs1368364498	414	L>F		No	ClinGen gnomAD
rs1182996921 CA410760347	414	L>R		No	ClinGen Ensembl
TCGA novel	416	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1365873565 CA410760320	418	L>P		No	ClinGen TOPMed
rs761524730 CA10116524	419	H>R		No	ClinGen ExAC TOPMed gnomAD
rs377351250 CA10116521	420	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410760307 rs1330600349	420	D>G		No	ClinGen gnomAD
CA410760311 rs1397956653	420	D>N		No	ClinGen gnomAD
CA410760303 rs531665453	421	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10116520 rs531665453	421	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10116519 rs771162202	421	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	422	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758611366 CA10116516	423	R>Q		No	ClinGen ExAC gnomAD
rs201829039 CA10116517	423	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA410760284 rs1385827569	424	I>M		No	ClinGen TOPMed
rs752947885 CA10116515	424	I>N		No	ClinGen ExAC gnomAD
CA10116514 rs779190992	425	H>N		No	ClinGen ExAC gnomAD
CA10116513 rs755301382	425	H>R		No	ClinGen ExAC gnomAD
CA410760273 rs1459329709	426	N>S		No	ClinGen gnomAD
CA322239728 rs754762072	429	S>G		No	ClinGen Ensembl
CA410760246 rs1232808506	430	P>L		No	ClinGen gnomAD
CA10116512 rs754372202	430	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766822032 CA10116511	431	L>F		No	ClinGen ExAC gnomAD
rs1569054087 CA410760236	432	K>T		No	ClinGen Ensembl
rs1601536678 CA410760227	433	L>R		No	ClinGen Ensembl
CA10116510 rs755632246	434	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10116509 rs141064047	434	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	435	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1330537695 CA410760206	437	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1447489035 CA410760201	437	A>V		No	ClinGen TOPMed gnomAD
CA410760197 rs1300932105	438	N>T		No	ClinGen gnomAD
TCGA novel	441	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410760168 rs1359318674	442	V>A		No	ClinGen gnomAD
rs987195758 CA322239673	446	V>M		No	ClinGen gnomAD
rs1437232723 CA410760135	447	W>*		No	ClinGen TOPMed gnomAD
CA10116505 rs764012980	448	A>P		No	ClinGen ExAC gnomAD
rs1343342442 CA410760123	449	V>L		No	ClinGen gnomAD
rs954493438 CA322239662	451	D>G		No	ClinGen Ensembl
CA410760108 rs1177934978	451	D>Y		No	ClinGen TOPMed
CA10116503 rs775585744	452	E>K	Variant assessed as Somatic; 9.288e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410760103 rs775585744	452	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1181990570 CA410760094	453	Q>*		No	ClinGen TOPMed
rs759438966 CA10116482	460	I>V		No	ClinGen ExAC TOPMed gnomAD
CA322239158 rs930779292	467	Q>R		No	ClinGen TOPMed
rs755319751 CA322239149	470	T>M		No	ClinGen TOPMed gnomAD
TCGA novel	472	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406831489 CA410759731	472	S>N		No	ClinGen gnomAD
CA10116478 rs774569700	473	K>R		No	ClinGen ExAC
rs754159754 CA322239113	475	I>V		No	ClinGen TOPMed gnomAD
rs768797717 CA10116477	477	A>G		No	ClinGen ExAC gnomAD
rs780448066 CA10116475	478	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA10116474 rs756471808	479	L>F		No	ClinGen ExAC gnomAD
rs1420469799 CA410759613	479	L>V		No	ClinGen gnomAD
CA10116473 rs746392950	481	L>V		No	ClinGen ExAC gnomAD
rs1601535102 CA410759556	483	I>V		No	ClinGen Ensembl
CA410759529 rs1264088358	484	C>Y		No	ClinGen gnomAD
rs1449885725 CA410759461	487	Q>P		No	ClinGen TOPMed gnomAD
CA410759462 rs1449885725	487	Q>R		No	ClinGen TOPMed gnomAD
CA10116450 rs199651819	491	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs757948384 CA10116449	491	R>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	493	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1173412172 CA410758860	494	E>G		No	ClinGen gnomAD
rs1401689632 CA410758868	494	E>K		No	ClinGen gnomAD
CA322238291 rs935820852	497	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs750331274 CA10116442	500	V>A		No	ClinGen ExAC TOPMed gnomAD
rs760722639 CA10116443	500	V>M		No	ClinGen ExAC gnomAD
CA322238256 rs923365395	501	H>Q		No	ClinGen Ensembl
CA10116439 rs138393470	504	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779385030 CA322238248	505	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748709973 CA10116438	505	P>S		No	ClinGen ExAC gnomAD
CA322238208 rs755379074	507	L>V		No	ClinGen TOPMed
rs778382310 CA10116433	508	R>*		No	ClinGen ExAC gnomAD
rs778382310 CA10116434	508	R>G		No	ClinGen ExAC gnomAD
rs1446229105 CA410758753	508	R>Q		No	ClinGen gnomAD
CA10116432 rs771726777	509	D>H		No	ClinGen ExAC gnomAD
CA410758734 rs1436864110	511	L>V		No	ClinGen gnomAD
rs1358698423 CA410758730	512	V>I		No	ClinGen TOPMed gnomAD
CA410758729 rs1358698423	512	V>L		No	ClinGen TOPMed gnomAD
rs778432628 CA10116430	514	P>Q		No	ClinGen ExAC gnomAD
TCGA novel	514	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1471659967 CA410758680	520	K>R		No	ClinGen gnomAD
CA10116427 rs779940066	525	H>Y		No	ClinGen ExAC gnomAD
rs755863624 CA10116426	526	S>N		No	ClinGen ExAC gnomAD
rs1415508236 CA410758638	526	S>R		No	ClinGen TOPMed
CA10116425 rs750384626	528	Y>C		No	ClinGen ExAC gnomAD
CA10116423 rs758480118	529	H>P		No	ClinGen ExAC gnomAD
rs199553640 CA10116424	529	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA410758610 rs1227157845	530	T>P		No	ClinGen gnomAD
CA10116398 rs773778076	532	A>V		No	ClinGen ExAC
CA322237260 rs201307110	533	G>S		No	ClinGen 1000Genomes TOPMed
rs767980007 CA10116397	535	D>G		No	ClinGen ExAC gnomAD
rs767980007 CA410758563	535	D>V		No	ClinGen ExAC gnomAD
rs1028776430 CA322237255	536	I>V		No	ClinGen TOPMed gnomAD
CA10116395 rs774681218	542	N>D		No	ClinGen ExAC gnomAD
rs768235806 CA10116394	542	N>S		No	ClinGen ExAC TOPMed gnomAD
rs748690267 CA10116393	543	E>D		No	ClinGen ExAC gnomAD
CA10116392 rs775214102	544	H>Y		No	ClinGen ExAC gnomAD
rs1188890062 CA410758487	546	E>D		No	ClinGen gnomAD
rs746994987 CA10116387	551	V>G		No	ClinGen ExAC gnomAD
rs142490069 CA10116388	551	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs755096641 CA10116385	552	M>I		No	ClinGen ExAC gnomAD
CA10116386 rs777517925	552	M>T		No	ClinGen ExAC gnomAD
rs371872004 CA10116384	553	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA322237212 rs1048736445	555	K>R		No	ClinGen Ensembl
rs1218650257 CA410758413	558	Q>*		No	ClinGen gnomAD
rs1371853587 CA410758405	559	P>S		No	ClinGen gnomAD
CA322237202 rs994906781	560	S>F		No	ClinGen Ensembl
rs745541103 CA322237189	561	M>I		No	ClinGen Ensembl
CA10116380 rs768033170	561	M>T		No	ClinGen ExAC gnomAD
CA410758395 rs1397848577	561	M>V		No	ClinGen gnomAD
rs1449932058 CA410758385	562	Y>S		No	ClinGen TOPMed
CA10116379 rs762036318	563	E>*		No	ClinGen ExAC TOPMed gnomAD
CA410758381 rs762036318	563	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs202082337 CA10116378	564	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764443420 CA10116377	566	R>*		No	ClinGen ExAC gnomAD
CA10116376 rs763512941	566	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs775042053 CA10116375	567	D>H		No	ClinGen ExAC gnomAD
CA410758342 rs1460046498	569	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10116372 rs200824315	570	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA410758317 rs1178076536	572	N>S		No	ClinGen gnomAD
CA10116371 rs770731627	573	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1191548365 CA410758296	574	C>S		No	ClinGen TOPMed
CA410758276 rs1569050200	575	R>K		No	ClinGen Ensembl
CA10116348 rs774391207	577	L>P		No	ClinGen ExAC gnomAD
rs974215026 CA322235530	579	A>G		No	ClinGen TOPMed gnomAD
rs1420240941 CA410757365	580	G>E		No	ClinGen gnomAD
rs770008397 CA10116347	582	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1262563080 CA410757281	583	V>A		No	ClinGen TOPMed gnomAD
rs1262563080 CA410757282	583	V>E		No	ClinGen TOPMed gnomAD
rs1601525887 CA410757256	584	D>A		No	ClinGen Ensembl
rs1160957564 CA410757242	584	D>E		No	ClinGen TOPMed
CA410757229 rs1378942991	585	P>L		No	ClinGen TOPMed
rs372083818 CA322235495	585	P>T		No	ClinGen Ensembl
CA410757130 rs1601525845	588	V>G		No	ClinGen Ensembl
rs781417893 CA10116345	593	A>P		No	ClinGen ExAC gnomAD
rs757480425 CA10116344	595	L>V		No	ClinGen ExAC gnomAD
rs1001886200 CA322235454	598	R>Q		No	ClinGen TOPMed gnomAD
CA322235461 rs1035090824	598	R>W		No	ClinGen gnomAD
rs1325346905 CA410756767	600	Y>C		No	ClinGen gnomAD
rs778042044 CA10116342	603	Q>R		No	ClinGen ExAC gnomAD
rs1383433041 CA410756607	605	S>N		No	ClinGen gnomAD
rs1325863520 CA410756562	606	D>N		No	ClinGen gnomAD
rs758699188 CA410756201	609	A>S		No	ClinGen ExAC TOPMed gnomAD
rs758699188 CA10116322	609	A>T		No	ClinGen ExAC TOPMed gnomAD
CA322234937 rs748233488	609	A>V		No	ClinGen Ensembl
CA410756081 rs1156843389 CA410756078	614	D>E		No	ClinGen TOPMed
rs754318915 CA10116318	614	D>N		No	ClinGen ExAC gnomAD
rs201395198 CA10116317	618	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs755609944 CA410755959	618	R>P		No	ClinGen ExAC gnomAD
rs755609944 CA10116316	618	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1406141368 CA410755915	620	L>F		No	ClinGen TOPMed
rs1372993723 CA410755931	620	L>M		No	ClinGen Ensembl
rs778740939 CA322234909	624	A>S		No	ClinGen Ensembl
CA10116314 rs767131535	624	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs751458944 CA10116312	626	A>S		No	ClinGen ExAC TOPMed gnomAD
CA410755771 rs1237547351	629	D>N		No	ClinGen TOPMed
rs770965443 CA10116310	630	T>P		No	ClinGen ExAC gnomAD
rs770942452 CA10116308	631	P>L		No	ClinGen ExAC TOPMed gnomAD
rs770942452 CA410755724	631	P>R		No	ClinGen ExAC TOPMed gnomAD
rs773306672 CA10116306	632	K>R		No	ClinGen ExAC TOPMed gnomAD
rs372570360 CA10116303	634	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10116304 rs748354225	634	M>V		No	ClinGen ExAC gnomAD
rs1156768914 CA410755635	636	P>T		No	ClinGen TOPMed gnomAD
rs1291446833 CA410755601	638	L>P		No	ClinGen TOPMed gnomAD
CA410755420 rs1183534021	648	P>L		No	ClinGen TOPMed gnomAD
rs749790677 CA10116301	649	P>H		No	ClinGen ExAC TOPMed gnomAD
rs1256382962 CA410755390	650	S>Y		No	ClinGen TOPMed gnomAD
rs150004135 CA10116297	651	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150004135 CA10116299	651	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs150004135 CA10116298	651	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374245029 CA10116292	652	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374245029 CA10116293	652	L>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410755356 rs374245029	652	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410755329 rs1332161105	653	D>Y		No	ClinGen TOPMed
rs773395215 CA10116287	656	I>F		No	ClinGen ExAC gnomAD
CA410755266 rs1281705128	657	I>V		No	ClinGen TOPMed gnomAD
rs762060085 CA10116285	658	D>N		No	ClinGen ExAC gnomAD
rs1313753344 CA410755215	659	Q>H		No	ClinGen gnomAD
rs1416651096 CA410755207	660	L>V		No	ClinGen gnomAD
rs1358756597 CA410755172	662	C>S		No	ClinGen gnomAD
rs1316096893 CA410755151	664	V>I		No	ClinGen gnomAD
CA410755130 rs1434121288	665	I>T		No	ClinGen TOPMed gnomAD
rs774514753 CA10116284	665	I>V		No	ClinGen ExAC TOPMed gnomAD
rs780277768 CA10116281	667	G>E		No	ClinGen ExAC gnomAD
rs749608484 CA10116282	667	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10116265 rs763073288	669	Q>K		No	ClinGen ExAC gnomAD
rs1439490748 CA410754967	670	Y>*		No	ClinGen Ensembl
CA410754918 rs1362278859	674	E>*		No	ClinGen gnomAD
rs1416851104 CA410754914	674	E>V		No	ClinGen TOPMed
rs770024662 CA10116263	675	V>L		No	ClinGen ExAC gnomAD
rs1464991683 CA410754858	677	N>K		No	ClinGen Ensembl
rs1212427493 CA410754805	680	Q>*		No	ClinGen gnomAD
rs777232443 CA10116261	683	S>N		No	ClinGen ExAC gnomAD
CA410754708 rs1157749612	685	K>N		No	ClinGen TOPMed
CA10116258 rs377404512	689	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA10116257 rs758123459	690	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1364195527 CA410754560	692	S>L		No	ClinGen gnomAD
rs368519135 CA10116255	692	S>T		No	ClinGen ESP ExAC TOPMed
rs754691694 CA10116254	693	A>D		No	ClinGen ExAC gnomAD
rs147927605 CA10116253	695	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA410754512 rs1369971232	695	K>R		No	ClinGen gnomAD
CA10116252 rs766247199	696	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	696	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410754474 rs987387636	697	Y>*		No	ClinGen Ensembl
TCGA novel	698	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10116251 rs757334194	699	D>N		No	ClinGen ExAC gnomAD
TCGA novel	703	R>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1174460539 CA410754398	703	R>G		No	ClinGen gnomAD
rs201223292 CA10116231	706	S>T		No	ClinGen ExAC TOPMed gnomAD
CA410753981 rs1199044678	708	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA410753950 rs752974370	712	A>G		No	ClinGen ExAC gnomAD
CA410753953 rs1177992602	712	A>P		No	ClinGen gnomAD
CA10116228 rs752974370	712	A>V		No	ClinGen ExAC gnomAD
rs765305931 CA10116227	714	A>T		No	ClinGen ExAC gnomAD
CA410753931 rs759823538	716	I>L		No	ClinGen ExAC TOPMed gnomAD
rs759823538 CA10116226	716	I>V		No	ClinGen ExAC TOPMed gnomAD
CA410753925 rs1280930885	717	A>T		No	ClinGen TOPMed gnomAD
CA10116224 rs766832623	717	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10116222 rs773817302	719	N>S		No	ClinGen ExAC gnomAD
rs1224145980 CA410753907	720	I>V		No	ClinGen gnomAD
CA410753896 rs1433687264	721	Q>R		No	ClinGen TOPMed
CA10116220 rs761171853	722	D>V		No	ClinGen ExAC TOPMed gnomAD
CA410753881 rs1375570471	723	E>G		No	ClinGen gnomAD
CA410753872 rs748916585 CA10116217	724	H>Q		No	ClinGen ExAC gnomAD
rs768260788 CA10116218	724	H>Y		No	ClinGen ExAC gnomAD
rs779863269 CA10116216	726	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10116215 rs769537254	729	L>P		No	ClinGen ExAC TOPMed gnomAD
CA322232747 rs937522871	730	L>P		No	ClinGen TOPMed
CA410753780 rs1187564633	732	N>K		No	ClinGen gnomAD
rs1415895365 CA410753786	732	N>S		No	ClinGen gnomAD
TCGA novel	741	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1202099178 CA410753620	746	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA410753586 rs1473722732	749	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1473403038 CA410753510	754	K>N		No	ClinGen TOPMed
CA410753514 rs1363648167	754	K>R		No	ClinGen TOPMed
rs754085320 CA10116208	755	G>V		No	ClinGen ExAC gnomAD
rs766884028 CA410753497	756	P>A		No	ClinGen ExAC gnomAD
rs766884028 CA10116207	756	P>S		No	ClinGen ExAC gnomAD
CA10116205 rs140922918	757	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10116206 rs140922918	757	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	760	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192703052 CA410779745	760	A>V		No	ClinGen gnomAD
rs1392530296 CA410779715	762	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs762389666 CA10116176	763	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1193757857 CA410779647	765	G>E		No	ClinGen gnomAD
CA410779560 rs1338179449	770	L>H		No	ClinGen TOPMed gnomAD
TCGA novel	771	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA322263842 rs1032157566	771	I>T		No	ClinGen Ensembl
CA10116174 rs764934091	773	V>A		No	ClinGen ExAC gnomAD
rs1251444425 CA410779530	773	V>L		No	ClinGen gnomAD
CA10116172 rs776335752	774	I>T		No	ClinGen ExAC TOPMed gnomAD
CA410779484 rs1569039955	776	V>A		No	ClinGen Ensembl
rs1271711199 CA410767651	778	T>A		No	ClinGen gnomAD
rs528959490 CA10115740	779	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs756156190 CA10115739	779	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410767643 rs1310669875	780	R>*		No	ClinGen gnomAD
CA10115737 rs139538592	780	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs762876793 CA10115736	782	P>S		No	ClinGen ExAC gnomAD
TCGA novel	786	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs935561241 CA322254299	788	K>N		No	ClinGen Ensembl
TCGA novel	789	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759719475 CA10115733	790	R>W		No	ClinGen ExAC gnomAD
rs924188745 CA322254295	793	K>E		No	ClinGen Ensembl
rs771236267 CA10115732	796	R>Q		No	ClinGen ExAC gnomAD
rs1463142707 CA410767454	798	F>L		No	ClinGen gnomAD
rs141711458 CA322254289	803	V>I		No	ClinGen ESP TOPMed gnomAD
CA410767325 rs1437772573	808	A>S		No	ClinGen TOPMed gnomAD
rs1437772573 CA410767328	808	A>T		No	ClinGen TOPMed gnomAD
rs778545915 CA10115727	809	V>A		No	ClinGen ExAC TOPMed gnomAD
CA10115726 rs768464194	811	G>C		No	ClinGen ExAC TOPMed gnomAD
CA322254281 rs920746808	811	G>D		No	ClinGen TOPMed
rs1297561465 CA410767275	813	G>R		No	ClinGen TOPMed
rs1245843991 CA410767172	818	E>*		No	ClinGen TOPMed
rs1407881504 CA410767149	821	E>K		No	ClinGen gnomAD
rs1315547557 CA410767138	822	G>E		No	ClinGen gnomAD
CA410767133 rs1569005044	823	V>F		No	ClinGen Ensembl
CA410767103 rs1288598208	827	A>D		No	ClinGen TOPMed
CA10115698 rs778977562	828	T>S		No	ClinGen ExAC TOPMed gnomAD
rs754984537 CA410767089	829	K>N		No	ClinGen ExAC gnomAD
CA10115696 rs753908897	830	S>C		No	ClinGen ExAC gnomAD
CA410767081 rs1184600519	831	P>A		No	ClinGen gnomAD
rs1601437224 CA410767063	834	T>P		No	ClinGen Ensembl
CA410767047 rs1230775568	836	P>H		No	ClinGen TOPMed
rs756338861 CA10115694	836	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1480198256 CA410767039	837	S>N		No	ClinGen TOPMed
CA410767035 rs1447697440	838	K>E		No	ClinGen gnomAD
CA10115692 rs767884235	842	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750795479 CA10115693	842	R>W		No	ClinGen ExAC gnomAD
rs774945312 CA10115690	844	V>I		No	ClinGen ExAC gnomAD
CA410766993 rs1246468909	845	L>F		No	ClinGen gnomAD
CA410766961 rs1420337435	849	S>*		No	ClinGen TOPMed
CA410766947 rs1411666318	851	M>I		No	ClinGen TOPMed
rs1268085429 CA410766914	856	V>I		No	ClinGen gnomAD
rs1483258955 CA410766901	858	P>A		No	ClinGen gnomAD
CA410766902 rs1483258955	858	P>T		No	ClinGen gnomAD
CA10115669 rs764752542	862	S>N		No	ClinGen ExAC gnomAD
CA410766843 rs1223766902	865	R>H		No	ClinGen TOPMed
CA10115668 rs759121601	866	S>T		No	ClinGen ExAC gnomAD
rs776279444 CA10115667	870	N>S		No	ClinGen ExAC gnomAD
rs760691392 CA322254103	873	D>E		No	ClinGen TOPMed
CA10115664 rs772967885	875	P>A		No	ClinGen ExAC TOPMed gnomAD
rs772037892 CA10115663	875	P>L		No	ClinGen ExAC gnomAD
CA10115665 rs772967885	875	P>S		No	ClinGen ExAC TOPMed gnomAD
rs747391554	876	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs746085885 CA10115658	878	V>L		No	ClinGen ExAC gnomAD
rs746085885 CA10115657	878	V>M		No	ClinGen ExAC gnomAD
CA10115654 rs373717608	880	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA410766751 rs1371847543	881	L>F		No	ClinGen gnomAD
rs1443442459 CA410766735	883	N>S		No	ClinGen gnomAD
rs778239225 CA410766723	884	K>N		No	ClinGen ExAC gnomAD
CA410766719 rs1427398671	885	L>P		No	ClinGen TOPMed
CA322254084 rs947401852	886	D>Y		No	ClinGen TOPMed
rs758993595 CA10115652	887	F>I		No	ClinGen ExAC gnomAD
CA10115651 RCV000997866 rs61752244	889	M>V		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA410766673 rs1178682733	892	Y>C		No	ClinGen gnomAD
CA410766667 rs1159547076	893	L>F		No	ClinGen TOPMed
rs764657676 CA10115650	898	R>Q		No	ClinGen ExAC gnomAD
rs1387584546 CA410766636	898	R>W		No	ClinGen TOPMed
rs1176389822 CA410766624	900	E>G		No	ClinGen gnomAD
rs1470412952 CA410766618	901	Y>D		No	ClinGen gnomAD
CA322254075 rs771958016	902	M>L		No	ClinGen ExAC gnomAD
rs771958016 CA10115649	902	M>V		No	ClinGen ExAC gnomAD
rs750896119 CA322246287	904	V>G		No	ClinGen Ensembl
rs912678963 CA322246291	904	V>I		No	ClinGen Ensembl
CA10115627 rs753428019	906	R>C		No	ClinGen ExAC TOPMed gnomAD
CA410766553 rs753428019	906	R>G		No	ClinGen ExAC TOPMed gnomAD
CA10115626 rs765835463	906	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410766540 rs1361437634 CA410766539	907	S>*		No	ClinGen TOPMed gnomAD
rs1400467377 CA410766533	908	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	909	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10115625 rs202070171	912	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA10115624 rs202130899	912	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA10115623 rs767306215	913	F>Y		No	ClinGen ExAC gnomAD
rs1166539819 CA410766453	914	Q>R		No	ClinGen gnomAD
rs1426383497 CA410766428	916	M>T		No	ClinGen gnomAD
rs1376955265 CA410766430	916	M>V		No	ClinGen TOPMed
rs142119272 CA322246254	918	C>Y		No	ClinGen 1000Genomes
CA410766362 rs1260351765	920	F>L		No	ClinGen gnomAD
CA410766349 rs1211183047	921	E>G		No	ClinGen TOPMed gnomAD
rs1333283215 CA410766288	924	A>T		No	ClinGen TOPMed
CA10115621 rs774005762	926	Q>H		No	ClinGen ExAC gnomAD
CA410766212 rs1267442934	927	K>T		No	ClinGen TOPMed gnomAD
CA410766162 rs1490635095	929	K>I		No	ClinGen gnomAD
CA410766153 rs1267443282	930	S>P		No	ClinGen gnomAD
rs760893981 CA10115595	932	M>L		No	ClinGen ExAC gnomAD
rs142927362 CA10115594	933	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1421990101 CA410764634	935	C>R		No	ClinGen TOPMed
rs967485535 CA322241485	938	A>T		No	ClinGen TOPMed gnomAD
CA10115593 rs772463399	938	A>V		No	ClinGen ExAC gnomAD
rs748277431 CA10115592	939	V>G		No	ClinGen ExAC gnomAD
rs376772368 CA10115590	940	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs535521417 CA10115589	940	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410764529 rs1302243851	941	D>G		No	ClinGen gnomAD
CA10115587 rs756603529	942	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1568990479 CA410764510	942	K>R		No	ClinGen Ensembl
CA10115585 rs569814980	943	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1457742326 CA410764464	945	D>A		No	ClinGen gnomAD
CA10115584 rs756969373	945	D>N		No	ClinGen ExAC gnomAD
CA10115582 rs139012517	949	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410764383 rs1342311230	950	M>V		No	ClinGen TOPMed
CA322241415 rs556992818	952	A>E		No	ClinGen ExAC TOPMed gnomAD
rs369792315 CA10115580	952	A>T		No	ClinGen ESP ExAC gnomAD
CA10115579 rs556992818	952	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1601409427 CA410764321	953	D>G		No	ClinGen Ensembl
rs777346443 CA10115563	955	A>T		No	ClinGen ExAC gnomAD
rs1341676496 CA410764253	957	T>A		No	ClinGen gnomAD
CA10115562 rs758045441	957	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs778809633 CA10115560	959	E>D		No	ClinGen ExAC gnomAD
rs138185344 CA322241364	959	E>V		No	ClinGen ESP TOPMed
rs1423173063 CA410764225	961	E>K		No	ClinGen gnomAD
rs1338175117 CA410764219	962	E>K		No	ClinGen TOPMed
CA410764182 rs1384842758	965	E>*		No	ClinGen gnomAD
rs767640561 CA10115557	966	R>Q		No	ClinGen ExAC gnomAD
rs371768351 CA10115558	966	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1192605115 CA410764142	968	A>S		No	ClinGen gnomAD
rs1263879586 CA410764131	969	Q>E		No	ClinGen gnomAD
CA410764075 rs1248355794	973	V>M		No	ClinGen TOPMed
rs764273859 CA10115554	976	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1290773565 CA410764009	977	H>R		No	ClinGen gnomAD
rs1228467422 CA410763995	978	I>T		No	ClinGen gnomAD
TCGA novel	992	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10115547 rs771454034	995	D>N		No	ClinGen ExAC TOPMed gnomAD
CA410763765 rs1029117680	1003	S>R		No	ClinGen TOPMed gnomAD
CA410763763 rs1230804769	1004	G>W		No	ClinGen gnomAD
CA322240527 rs867610407	1006	V>M		No	ClinGen Ensembl
CA410763718 rs1267080328	1011	L>M		No	ClinGen TOPMed
CA10115520 rs745772536	1016	T>I		No	ClinGen ExAC gnomAD
rs745772536 CA10115519	1016	T>S		No	ClinGen ExAC gnomAD
rs1312104664 CA410763679	1017	L>P		No	ClinGen gnomAD
CA10115518 rs777732477	1017	L>V		No	ClinGen ExAC
rs765489689 CA10115515	1022	S>N		No	ClinGen ExAC TOPMed gnomAD
CA10115513 rs754184798	1023	A>T		No	ClinGen ExAC TOPMed gnomAD
CA10115495 rs766657047	1027	K>T		No	ClinGen ExAC TOPMed gnomAD
CA10115494 rs756569540	1029	Q>*		No	ClinGen ExAC gnomAD
CA410763592 rs756569540	1029	Q>E		No	ClinGen ExAC gnomAD
rs1229237403 CA410763589	1029	Q>R		No	ClinGen gnomAD
CA410763559 rs1413829415	1033	D>G		No	ClinGen gnomAD
CA410763555 rs1341487558	1034	I>V		No	ClinGen TOPMed gnomAD
rs1183114649 CA410763548	1035	P>A		No	ClinGen gnomAD
rs1262039785 CA410763546	1035	P>R		No	ClinGen TOPMed
CA10115491 rs762380493	1036	D>N		No	ClinGen ExAC gnomAD
CA410763536 rs1568988215	1037	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA410763502 rs1290059257	1040	R>Q		No	ClinGen gnomAD
CA10115489 rs763652573	1040	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10115486 rs769313764	1042	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10115484 rs776376653	1043	V>L		No	ClinGen ExAC gnomAD
CA322240049 rs868024175	1047	Y>D		No	ClinGen Ensembl
rs1308193576 CA410763402	1048	E>K		No	ClinGen TOPMed gnomAD
CA10115481 rs778977427	1049	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10115480 rs768714215	1050	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1291598434 CA410763371	1050	R>H		No	ClinGen gnomAD
CA410763367 rs1291598434	1050	R>L		No	ClinGen gnomAD
CA10115456 rs757633809	1052	S>I		No	ClinGen ExAC gnomAD
CA10115455 rs146663036	1057	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758813405 CA10115453	1058	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1254246181 CA410762521	1059	A>T		No	ClinGen gnomAD
rs1405765241 CA410762495	1060	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1348054636 CA410762386	1065	L>H		No	ClinGen TOPMed
rs1357043822 CA410762378	1066	Q>*		No	ClinGen gnomAD
CA410762335 rs1303140730	1068	A>T		No	ClinGen gnomAD
rs1039939440 CA322238872	1069	M>T		No	ClinGen TOPMed
CA410762264 rs1601402352	1071	W>G		No	ClinGen Ensembl
CA10115449 rs369418356	1073	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371877127 CA10115450	1073	P>S		No	ClinGen ESP ExAC gnomAD
rs760530876 CA10115447	1075	V>I		No	ClinGen ExAC TOPMed gnomAD
rs772959577 CA10115446	1077	K>R		No	ClinGen ExAC gnomAD
rs1354523659 CA410762148	1079	H>L		No	ClinGen TOPMed gnomAD
TCGA novel	1082	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10115426 rs761811312	1084	L>M		No	ClinGen ExAC gnomAD
rs1417539775 CA410761689	1091	V>A		No	ClinGen gnomAD
CA10115425 rs144933467	1092	S>L	Variant assessed as Somatic; 9.24e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA410761565 rs1601397880	1102	M>V		No	ClinGen Ensembl
rs772269237 CA10115418	1107	I>F		No	ClinGen ExAC gnomAD
CA10115417 rs748533855	1112	G>V		No	ClinGen ExAC TOPMed gnomAD
rs755446621 CA10115415	1116	Q>*		No	ClinGen ExAC gnomAD
CA10115414 rs748845018	1117	N>D		No	ClinGen ExAC gnomAD
rs954805405 CA322237054	1119	T>A		No	ClinGen TOPMed
rs1374832801 CA410761438	1120	L>P		No	ClinGen TOPMed
CA10115412 rs755793416	1121	G>W		No	ClinGen ExAC gnomAD
CA410761171 rs139138328	1124	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA10115391 rs751337698	1125	L>R		No	ClinGen ExAC gnomAD
CA10115390 rs777674333	1126	S>N		No	ClinGen ExAC gnomAD
rs752626103 CA10115388	1127	E>K		No	ClinGen ExAC gnomAD
CA322234698 rs796765440	1128	R>H		No	ClinGen TOPMed
CA410761136 rs1408981423	1130	A>G		No	ClinGen TOPMed
rs1400941067 CA410761104	1135	D>N		No	ClinGen gnomAD
CA410761085 rs1172366250	1137	S>Y		No	ClinGen gnomAD
CA410761078 rs1412703973	1138	N>S		No	ClinGen gnomAD
CA10115387 rs765255531	1140	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1145	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410761026 rs1455283112	1146	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1146	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750486673 CA10115385	1148	R>C	Variant assessed as Somatic; 4.625e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410761012 rs1177452792	1148	R>H		No	ClinGen TOPMed gnomAD
CA410761002 rs556589604	1149	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1208567434 CA410761001	1150	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs774727253 CA10115382	1150	A>V		No	ClinGen ExAC gnomAD
rs1601389561 CA410760987	1152	E>G		No	ClinGen Ensembl
rs770419704 CA10115354	1154	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs140467082 CA10115355	1154	Y>H		No	ClinGen 1000Genomes ExAC gnomAD
CA410760833 rs1262873675	1157	I>S		No	ClinGen gnomAD
rs199713731 CA410760828	1158	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10115352 rs147412247	1158	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199713731 CA10115353	1158	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA322233530 rs998161479	1160	S>L		No	ClinGen gnomAD
rs1322334639 CA410760774	1161	G>R		No	ClinGen TOPMed gnomAD
rs1322334639 CA410760778	1161	G>S		No	ClinGen TOPMed gnomAD
rs778803248 CA10115350	1163	T>I		No	ClinGen ExAC TOPMed gnomAD
rs778803248 CA10115349	1163	T>K		No	ClinGen ExAC TOPMed gnomAD
rs754902607 CA10115348	1165	Q>H		No	ClinGen ExAC gnomAD
RCV000658930 rs201558760 CA10115346	1166	M>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA10115345 rs749180398	1167	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1439499623 CA410760059	1172	M>I		No	ClinGen gnomAD
CA322233497 rs1039929271	1172	M>T		No	ClinGen Ensembl
CA322233491 rs910039085	1175	Q>K		No	ClinGen Ensembl
rs1363614849 CA410760017	1178	H>R		No	ClinGen gnomAD
rs781144233 CA10115344	1180	A>V		No	ClinGen ExAC gnomAD
CA10115342 rs373276555	1181	L>V		No	ClinGen ESP ExAC gnomAD
CA322233469 rs1042512993	1182	D>G		No	ClinGen TOPMed gnomAD
rs12168672 CA322233477	1182	D>N		No	ClinGen Ensembl
CA10115341 rs552893765	1183	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10115340 rs373302183	1183	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs373302183 CA10115339	1183	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10115338 rs535874525	1185	H>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410759950 rs1555884508 RCV000514115	1187	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs1430734248 CA410759935	1188	H>Y		No	ClinGen gnomAD
rs759976751 CA10115337	1189	Y>H		No	ClinGen ExAC gnomAD
rs766793742 CA10115335	1190	T>M		No	ClinGen ExAC TOPMed gnomAD
CA10115336 rs777255762	1190	T>S		No	ClinGen ExAC gnomAD
rs1442088712 CA410759858	1193	M>T		No	ClinGen TOPMed
rs1315960109 CA410759863	1193	M>V		No	ClinGen gnomAD
CA410759831 rs1177250660	1195	K>Q		No	ClinGen TOPMed
CA322233397 rs982303571	1196	L>M		No	ClinGen Ensembl
rs771875514 CA10115332	1200	L>P		No	ClinGen ExAC gnomAD
rs1371334314 CA410759747	1201	I>T		No	ClinGen gnomAD
rs747762250 CA10115331	1201	I>V		No	ClinGen ExAC gnomAD
rs200231229 CA10115330	1202	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1444014423 CA410759720	1203	S>C		No	ClinGen TOPMed gnomAD
CA410759722 rs1444014423	1203	S>G		No	ClinGen TOPMed gnomAD
rs768438220 CA10115329	1204	K>E		No	ClinGen ExAC gnomAD
rs1299177687 CA410759699	1204	K>R		No	ClinGen gnomAD
CA10115303 rs772199420	1206	C>R		No	ClinGen ExAC gnomAD
CA10115302 rs748175082	1208	P>L		No	ClinGen ExAC TOPMed gnomAD
CA410759429 rs1210526998	1210	L>F		No	ClinGen gnomAD
rs779237206 CA10115301	1211	L>F		No	ClinGen ExAC TOPMed gnomAD
CA10115300 rs755134573	1212	H>Y		No	ClinGen ExAC gnomAD
rs202122520 CA10115299	1213	H>R		No	ClinGen 1000Genomes ExAC gnomAD
CA410759371 rs1312713409	1214	L>M		No	ClinGen gnomAD
rs199961373 CA410759299	1218	P>A		No	ClinGen 1000Genomes ExAC TOPMed
rs756692093 CA410759294	1218	P>H		No	ClinGen ExAC TOPMed gnomAD
CA10115297 rs756692093	1218	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA10115298 rs199961373	1218	P>S		No	ClinGen 1000Genomes ExAC TOPMed
CA10115294 rs761480824	1220	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10115295 rs371959432	1220	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1221492434 CA410759257	1222	F>L		No	ClinGen TOPMed
CA410759247 rs1367971143	1223	N>S		No	ClinGen gnomAD
rs1475506962 CA410759240	1224	E>A		No	ClinGen gnomAD
rs1187066487 CA410759243	1224	E>Q		No	ClinGen TOPMed gnomAD
CA322233113 rs949145442	1225	H>D		No	ClinGen Ensembl
CA10115292 rs201269583	1225	H>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10115291 rs762459684	1229	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1233	C>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206373576 CA410759176	1234	W>R		No	ClinGen gnomAD
CA322233098 rs990464225	1236	W>*		No	ClinGen TOPMed
CA10115288 rs759317070	1236	W>G		No	ClinGen ExAC TOPMed gnomAD
rs201571654 CA10115287	1238	L>M		No	ClinGen 1000Genomes ExAC gnomAD
rs201571654 CA10115286	1238	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA410759120 rs1478230646	1242	D>G		No	ClinGen TOPMed
CA410759116 rs1399849048	1243	G>R		No	ClinGen gnomAD
CA410759103 rs1327246802	1245	E>Q		No	ClinGen gnomAD
CA10115283 rs748310842	1247	P>L		No	ClinGen ExAC TOPMed gnomAD
CA410758256 rs1193713647	1251	E>D		No	ClinGen TOPMed gnomAD
CA10115261 rs768559457	1252	M>I		No	ClinGen ExAC gnomAD
rs1469365308 CA410758253	1252	M>L		No	ClinGen gnomAD
CA10115260 rs775920955	1253	A>S		No	ClinGen ExAC TOPMed gnomAD
rs775920955 CA10115259	1253	A>T		No	ClinGen ExAC TOPMed gnomAD
CA410758231 rs1275515016	1255	A>V		No	ClinGen gnomAD
rs781645579 CA10115256	1256	W>G		No	ClinGen ExAC TOPMed gnomAD
rs1236770950 CA410757419	1258	M>K		No	ClinGen gnomAD
CA10115254 rs747404627	1258	M>L		No	ClinGen ExAC
TCGA novel	1258	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10115253 rs559723682	1259	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410757379 rs1441357795	1260	V>L		No	ClinGen gnomAD
CA410757339 rs1601362632	1261	E>D		No	ClinGen Ensembl
rs764922100 CA10115250	1261	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1395084963 CA410757305	1262	Q>H		No	ClinGen TOPMed
rs1412613202 CA410757255	1264	F>C		No	ClinGen gnomAD
CA410757214 rs1420829997	1265	G>V		No	ClinGen TOPMed
CA410757163 rs1601362593	1268	S>F		No	ClinGen Ensembl
rs370877255 CA10115249	1269	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs377440929 CA10115248	1270	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA10115247 rs566825145	1271	I>V		No	ClinGen ExAC TOPMed gnomAD
CA410757080 rs1377905528	1272	K>*		No	ClinGen gnomAD
TCGA novel	1272	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10115246 rs142888155	1272	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs773079355 CA10115245	1275	D>N		No	ClinGen ExAC gnomAD
CA10115242 rs775685784	1280	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410756729 rs1213224757	1283	S>R		No	ClinGen gnomAD
CA410756698 rs1351818908	1284	Q>H		No	ClinGen TOPMed gnomAD
rs777136650 CA10115239	1286	K>N		No	ClinGen ExAC gnomAD
rs759790439 CA10115240	1286	K>Q		No	ClinGen ExAC gnomAD
CA410756635 rs1373966356	1287	P>A		No	ClinGen gnomAD
rs747398000 CA10115237	1288	C>F		No	ClinGen ExAC TOPMed gnomAD
rs747398000 CA410756605	1288	C>S		No	ClinGen ExAC TOPMed gnomAD
rs778187321 CA10115236	1289	P>A		No	ClinGen ExAC gnomAD
rs1262375185 CA410756565	1289	P>L		No	ClinGen TOPMed
rs1348655919 CA410756548	1290	P>R		No	ClinGen TOPMed
CA10115235 rs563233645	1291	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA410756461 rs1209650150	1293	T>I		No	ClinGen TOPMed gnomAD
rs1440630160 CA410756442	1294	P>L		No	ClinGen TOPMed
CA10115233 rs371017095	1294	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1400850943 CA410756439	1295	H>D		No	ClinGen TOPMed gnomAD
rs1400850943 CA410756432	1295	H>N		No	ClinGen TOPMed gnomAD
rs1409534265	1295	H>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA410756436 rs1400850943	1295	H>Y		No	ClinGen TOPMed gnomAD
CA10115232 rs754632075	1297	I>F		No	ClinGen ExAC gnomAD
CA410756301 rs1258604908	1300	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA410756040 rs1323280678	1303	V>M		No	ClinGen TOPMed gnomAD
CA10115215 rs558208667	1304	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA322230118 rs983084212	1305	R>Q		No	ClinGen TOPMed gnomAD
CA322230120 rs907512731	1305	R>W		No	ClinGen TOPMed gnomAD
CA410755897 rs951765435	1308	I>M		No	ClinGen TOPMed gnomAD
rs1328450753 CA410755893	1309	A>T		No	ClinGen TOPMed gnomAD
rs1601361497 CA410755795	1313	S>N		No	ClinGen Ensembl
rs1430500369 CA410755699	1317	V>M		No	ClinGen gnomAD
TCGA novel	1318	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10115214 rs778409547	1321	S>C		No	ClinGen ExAC
rs1256215401 CA410755610	1321	S>P		No	ClinGen TOPMed
CA410755497 rs1468917830	1326	R>C		No	ClinGen TOPMed gnomAD
rs1027396021 CA322230096	1326	R>H		No	ClinGen TOPMed gnomAD
rs1215430315 CA410755467	1327	S>F		No	ClinGen gnomAD
rs147220607 CA10115211	1328	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA410755459 rs1250517489	1328	M>V		No	ClinGen gnomAD
CA410755415 rs1308890779	1329	S>F		No	ClinGen gnomAD
CA410755398 rs1173999682	1330	L>P		No	ClinGen TOPMed
CA410755368 rs1396887057	1332	I>V		No	ClinGen TOPMed
TCGA novel	1333	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1371036306 CA410755346	1333	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA410755353 rs1233131635	1333	G>S		No	ClinGen gnomAD
CA410755323 rs1390137630	1334	G>E		No	ClinGen gnomAD
rs1305032041 CA410755327	1334	G>R		No	ClinGen TOPMed gnomAD
CA10115210 rs141814603	1335	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA10115209 rs750206424	1336	K>E		No	ClinGen ExAC gnomAD
CA410755250 rs1455367159	1337	G>E		No	ClinGen TOPMed
CA410755263 rs1463909033	1337	G>R		No	ClinGen gnomAD
rs1287380698 CA410755198	1339	M>R		No	ClinGen TOPMed
CA410755148 rs1454887036	1341	R>Q		No	ClinGen TOPMed gnomAD
rs780995730 CA10115208	1341	R>W		No	ClinGen ExAC TOPMed gnomAD
rs2629363 CA410755112	1342	H>Q		No	ClinGen TOPMed gnomAD
rs1176893585 CA410755110	1343	V>M		No	ClinGen gnomAD
rs1249799556 CA410755069	1344	A>V		No	ClinGen TOPMed gnomAD
rs1277956074 CA410755048	1346	I>V		No	ClinGen gnomAD
CA10115204 CA410755036 rs759733156	1347	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1281816861 CA410755027	1348	P>S		No	ClinGen gnomAD
rs766536133 CA10115202	1349	R>C		No	ClinGen ExAC gnomAD
rs760912601 CA10115201	1349	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1393659875 CA410755005	1350	F>L		No	ClinGen gnomAD
rs1601360283 CA410754851	1353	L>V		No	ClinGen Ensembl
rs753899699 CA10115185	1354	T>I		No	ClinGen ExAC gnomAD
rs1454118841 CA410754804	1355	L>P		No	ClinGen gnomAD
CA410754737 rs1601360204	1358	S>A		No	ClinGen Ensembl
rs1446097525 CA410754728	1358	S>C		No	ClinGen gnomAD
rs372615565 CA10115183	1359	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs372615565 CA410754724	1359	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA410754691 rs1210104110	1361	H>R		No	ClinGen gnomAD
rs767723470 CA10115181	1363	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA410754605 rs1601360092	1365	V>G		No	ClinGen Ensembl
rs1337348609 CA410754619	1365	V>L		No	ClinGen TOPMed gnomAD
rs1226933980 CA410754589	1366	P>L		No	ClinGen gnomAD
rs1327298030 CA410754579	1367	N>Y		No	ClinGen gnomAD
rs764607070 CA10115177	1369	T>A		No	ClinGen ExAC gnomAD
rs1314163145 CA410754527	1369	T>I		No	ClinGen TOPMed
CA410754503 rs1352953187	1371	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10115175 rs774863013	1372	N>S		No	ClinGen ExAC gnomAD
CA410754478 rs1165982077	1373	V>G		No	ClinGen gnomAD
rs1392567730 CA410754483	1373	V>M		No	ClinGen gnomAD
CA10115173 rs745355230	1374	L>H		No	ClinGen ExAC TOPMed
rs1474862544 CA410754457	1375	R>C	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA410754453 rs1253126844	1375	R>H		No	ClinGen gnomAD
rs1189930663 CA410754447	1376	E>K	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs770688255 CA10115171	1378	I>T		No	ClinGen ExAC
rs376437432 CA10115170	1382	A>V		No	ClinGen ESP ExAC gnomAD
rs1214824630 CA410754364	1383	F>V		No	ClinGen TOPMed gnomAD
CA322229565 rs112520623	1388	C>Y		No	ClinGen Ensembl
rs1173716804 CA410754305	1389	P>S		No	ClinGen gnomAD
rs899080006 CA322229554	1391	K>*		No	ClinGen TOPMed gnomAD
CA410754275 rs1470815111	1393	P>L		No	ClinGen gnomAD
TCGA novel	1393	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1395	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1186308247 CA410754260	1396	G>R		No	ClinGen gnomAD
rs1485459812 CA410754253	1397	E>Q		No	ClinGen TOPMed gnomAD
CA10115138 rs759923695	1399	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs547345219 CA10115139	1399	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1283694869 CA410754228	1401	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs765929508 CA10115136	1401	R>H		No	ClinGen ExAC TOPMed gnomAD
CA410754213 rs1175043741	1403	D>G		No	ClinGen TOPMed gnomAD
CA10115134 rs773068236	1406	I>F		No	ClinGen ExAC
rs1289969396 CA410754187	1407	M>V		No	ClinGen gnomAD
rs771594802 CA10115133	1412	T>I		No	ClinGen ExAC gnomAD
CA10115131 rs567743500	1413	A>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1415	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1475046255 CA410754071	1423	A>T		No	ClinGen gnomAD
CA410754064 rs1462354297	1424	S>G		No	ClinGen TOPMed
TCGA novel	1426	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1430	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440792374 CA410753174	1432	Q>H		No	ClinGen gnomAD
CA322251330 rs112882328	1432	Q>L		No	ClinGen Ensembl
CA322251326 rs112882328	1432	Q>R		No	ClinGen Ensembl
CA410753157 rs1255502274	1435	R>Q		No	ClinGen TOPMed
rs755461866 CA10115103	1437	N>I		No	ClinGen ExAC gnomAD
CA10115102 rs749640991	1438	L>P		No	ClinGen ExAC gnomAD
TCGA novel	1439	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410753119 rs1354333400	1441	T>A		No	ClinGen gnomAD
rs780757411 CA10115101	1441	T>I		No	ClinGen ExAC gnomAD
CA10115099 rs749978920	1443	G>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1444	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs934167301 CA410753096	1445	R>L		No	ClinGen Ensembl
rs934167301 CA322251304	1445	R>Q		No	ClinGen Ensembl
CA10115098 rs766870516	1445	R>W		No	ClinGen ExAC gnomAD
CA10115097 rs756947071	1447	Q>*		No	ClinGen ExAC gnomAD
rs1274215188 CA410753076	1448	A>G		No	ClinGen gnomAD
CA410753046 rs1192854677	1452	W>*		No	ClinGen gnomAD
rs1228114218 CA410753034	1454	N>S		No	ClinGen gnomAD
rs751598418	1458	L>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1459	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410752998 rs1277557727	1460	S>G		No	ClinGen gnomAD
rs565662495 CA10115091	1461	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1303984128 CA410752985	1462	M>V		No	ClinGen gnomAD
rs773358343 CA10115089	1465	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1467	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1019257227 CA322251278	1469	S>L		No	ClinGen TOPMed
CA410752915 rs1211135640	1470	G>D		No	ClinGen gnomAD
rs1487696497 CA410752910	1471	M>T		No	ClinGen TOPMed
CA410752913 rs1333084918	1471	M>V		No	ClinGen gnomAD
rs1293094951 CA410752898	1473	K>E		No	ClinGen gnomAD
CA10115068 rs774443874	1475	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1251874890 CA410752860	1475	T>I		No	ClinGen TOPMed
CA410752847 rs769028186	1476	N>I		No	ClinGen ExAC TOPMed gnomAD
CA10115067 rs769028186	1476	N>S		No	ClinGen ExAC TOPMed gnomAD
CA410752851 rs769028186	1476	N>T		No	ClinGen ExAC TOPMed gnomAD
CA410752838 rs1321087379	1477	R>Q		No	ClinGen TOPMed gnomAD
CA322251155 rs776325311	1477	R>W		No	ClinGen gnomAD
CA10115066 rs763197668	1479	S>A		No	ClinGen ExAC gnomAD
CA410752809 rs1163807469	1480	Q>*		No	ClinGen TOPMed
rs1190577620 CA410752746	1484	Y>*		No	ClinGen gnomAD
TCGA novel	1486	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448286907 CA410752705	1487	K>R		No	ClinGen gnomAD
CA410752693 rs1248128986	1488	R>C		No	ClinGen gnomAD
rs746238594 CA10115063	1488	R>H		No	ClinGen ExAC TOPMed gnomAD
CA410752689 rs746238594	1488	R>L		No	ClinGen ExAC TOPMed gnomAD
CA322251144 rs867784816	1489	R>S		No	ClinGen Ensembl
rs1210882808 CA410752648	1492	L>P		No	ClinGen gnomAD
CA10115061 rs771445927	1493	L>V		No	ClinGen ExAC gnomAD
CA410752628 rs746521512	1494	S>C		No	ClinGen ExAC gnomAD
rs746521512 CA10115060	1494	S>F		No	ClinGen ExAC gnomAD
CA410752560 rs1370847788	1497	A>T		No	ClinGen gnomAD
rs1170100968 CA410752523	1499	E>D		No	ClinGen gnomAD
rs771371687 CA10115042	1501	E>K		No	ClinGen ExAC gnomAD
CA10115041 rs747493613	1502	R>C		No	ClinGen ExAC gnomAD
CA10115039 rs751448433	1502	R>H		No	ClinGen ExAC TOPMed gnomAD
CA10115040 rs751448433	1502	R>L		No	ClinGen ExAC TOPMed gnomAD
CA410752478 rs1362403075	1503	L>P		No	ClinGen gnomAD
CA10115037 rs778589361	1504	I>L		No	ClinGen ExAC gnomAD
rs1441862473 CA410752435	1506	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1279457820 CA410752389	1509	P>L		No	ClinGen gnomAD
CA10115032 rs373527421	1511	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA322251026 rs779520562	1512	A>V		No	ClinGen Ensembl
CA10115031 rs767554127	1513	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1182620441 CA410752352	1513	P>S		No	ClinGen gnomAD
CA10115030 rs758589977	1516	E>G		No	ClinGen ExAC gnomAD
rs1358040793 CA410752305	1517	L>P		No	ClinGen gnomAD
rs752801635 CA10115029	1517	L>V		No	ClinGen ExAC gnomAD
rs142551886 CA10115028	1519	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs773411823 CA322251010	1521	G>R		No	ClinGen TOPMed gnomAD
CA410752237 rs1159084689	1522	E>D		No	ClinGen gnomAD
TCGA novel	1523	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10115025 rs766826857	1525	V>M		No	ClinGen ExAC TOPMed gnomAD
rs141277380 CA10115024	1527	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1472614381 CA410752174	1527	N>Y		No	ClinGen gnomAD
rs1274873434 CA410752127	1530	S>A		No	ClinGen gnomAD
rs202017729 CA10115021	1533	I>S		No	ClinGen ExAC TOPMed gnomAD
CA410752075 rs1601349160	1534	S>G		No	ClinGen Ensembl
rs200302585 CA322250997	1534	S>T		No	ClinGen Ensembl
rs773814432 CA10115020	1539	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1290029450 CA410751983	1540	W>*		No	ClinGen gnomAD
CA10115019 rs748910128 CA10115018	1540	W>R		No	ClinGen ExAC gnomAD
CA322250985 rs201391035	1544	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA322250982 rs1040253613	1545	N>K		No	ClinGen Ensembl
CA322250974 rs370079057	1547	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA10115015 rs370079057	1547	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA10115014 rs781327704	1547	A>V		No	ClinGen ExAC gnomAD
CA410751853 rs1280176275	1551	S>F		No	ClinGen TOPMed
CA410751843 rs1404972070	1553	Y>S		No	ClinGen gnomAD
CA410751829 rs1601348998	1555	A>G		No	ClinGen Ensembl
rs1048207116 CA322250956	1557	Q>*		No	ClinGen Ensembl
CA410751811 rs1446758277	1558	L>Q		No	ClinGen gnomAD
rs1376023057 CA410751747	1566	E>Q		No	ClinGen gnomAD
rs1432559507 CA410751730	1568	I>T		No	ClinGen gnomAD
rs1425576847 CA410751722	1569	G>V		No	ClinGen gnomAD
CA410751711 rs1250527166	1571	E>K		No	ClinGen gnomAD
CA10114982 rs769600910	1572	V>L		No	ClinGen ExAC TOPMed gnomAD
CA410751698 rs1601345688	1573	T>P		No	ClinGen Ensembl
rs575931261 CA10114979	1574	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1280014023 CA410751687	1575	L>F		No	ClinGen TOPMed
CA410751683 rs1020553110	1576	V>F		No	ClinGen TOPMed gnomAD
CA322250313 rs1020553110	1576	V>I		No	ClinGen TOPMed gnomAD
CA410751676 rs1350274510	1577	R>P		No	ClinGen gnomAD
CA322250304 rs866843052	1577	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA410751664 rs1601345578	1579	D>A		No	ClinGen Ensembl
rs139243317 CA322250298	1580	P>L		No	ClinGen ESP TOPMed gnomAD
CA410751656 rs139243317	1580	P>R		No	ClinGen ESP TOPMed gnomAD
rs563669044 CA322250294 CA10114973	1581	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1488817822 CA410751647	1582	A>V		No	ClinGen TOPMed
rs749420571 CA10114971	1583	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs150837939 CA10114970	1584	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA322250290 rs141464943	1585	D>H		No	ClinGen ESP gnomAD
CA410751608 rs1171352806	1588	E>A		No	ClinGen TOPMed
rs965954272 CA322250289	1589	A>S		No	ClinGen gnomAD
CA10114968 rs543476122	1590	I>V		No	ClinGen 1000Genomes ExAC gnomAD
rs138845425	1592	F>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1432792428 CA410751503	1596	W>R		No	ClinGen TOPMed gnomAD
rs1055732428 CA322250094	1599	I>V		No	ClinGen TOPMed
CA10114944 rs146092798	1600	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
rs1388341595 CA410751430	1601	A>T		No	ClinGen TOPMed gnomAD
rs142928525 CA322250052	1602	D>G		No	ClinGen ESP gnomAD
rs1601344361 CA410751418	1602	D>N		No	ClinGen Ensembl
rs1306604592 CA410751392	1604	P>A		No	ClinGen TOPMed
rs754586130 CA10114942	1604	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410751333 rs1282279196	1608	H>R		No	ClinGen TOPMed
CA10114940 rs202031892	1609	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA322250041 rs1043838514	1611	C>F		No	ClinGen gnomAD
rs773075609 CA10114938	1613	A>V		No	ClinGen ExAC TOPMed gnomAD
CA410751249 rs1358810526	1614	P>L		No	ClinGen gnomAD
CA10114936 rs761661752	1614	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1184891285 CA410751245	1615	T>A		No	ClinGen TOPMed
rs143809036 CA10114935	1615	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA410751229 rs1227675341	1616	D>A		No	ClinGen gnomAD
CA322250023 rs371027841	1618	P>H		No	ClinGen ESP
TCGA novel	1618	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10114931 rs771188551	1623	Y>C		No	ClinGen ExAC gnomAD
rs778040702 CA10114929	1625	S>P		No	ClinGen ExAC gnomAD
rs1347493426 CA410751085	1627	M>I		No	ClinGen TOPMed
CA410751088 rs1349350142	1627	M>T		No	ClinGen gnomAD
rs987872275 CA322250002	1628	Y>N		No	ClinGen gnomAD
rs758731680 CA10114928	1628	Y>S		No	ClinGen ExAC gnomAD
CA410751055 rs1367493036	1629	P>L		No	ClinGen TOPMed gnomAD
rs137902490 CA10114926	1630	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA410751014 rs1345223974	1633	L>V		No	ClinGen TOPMed
CA10114924 rs753406254	1634	T>M		No	ClinGen ExAC TOPMed gnomAD
rs376324471 CA10114923	1635	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1275258658 CA410750980	1636	Q>*		No	ClinGen gnomAD
rs1488850700 CA410750946	1638	G>E		No	ClinGen TOPMed
CA410750894 rs373067047	1643	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA10114920 rs373067047	1643	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs750112492 CA10114921	1643	R>W		No	ClinGen ExAC TOPMed gnomAD
CA10114919 rs761560121	1644	S>F		No	ClinGen ExAC gnomAD
CA410750839 rs1347180293	1647	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10114893 rs760693636	1649	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410750695 rs1238155908	1650	I>T		No	ClinGen gnomAD
CA410750703 rs1472482085	1650	I>V		No	ClinGen gnomAD
rs1184098635 CA410750689	1651	L>I		No	ClinGen gnomAD
rs1462636123 CA410750659	1653	Y>H		No	ClinGen gnomAD
CA410750638 rs1245950843	1654	I>N		No	ClinGen gnomAD
CA10114892 rs773303370	1656	Q>R		No	ClinGen ExAC gnomAD
CA10114891 rs564432902	1657	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA322249607 rs969455316	1660	A>P		No	ClinGen TOPMed
rs942781662 CA322249600	1662	R>G		No	ClinGen TOPMed
CA10114890 rs762073554	1665	K>N		No	ClinGen ExAC gnomAD
rs1229141705 CA410750504	1665	K>R		No	ClinGen TOPMed
rs1270698907 CA410749976	1669	V>A		No	ClinGen gnomAD
CA10114843 rs772643561	1670	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1050137675 CA322247106	1670	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA10114842 rs771727199	1672	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	1672	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410749928 rs1403045066	1673	I>S		No	ClinGen TOPMed
CA410749920 rs1464549565	1674	L>P		No	ClinGen TOPMed
CA10114841 rs747893645	1676	A>S		No	ClinGen ExAC TOPMed gnomAD
rs778428482 CA10114840	1676	A>V		No	ClinGen ExAC TOPMed gnomAD
CA10114839 rs754844315	1677	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10114837 rs780158708	1678	S>F		No	ClinGen ExAC gnomAD
CA10114836 rs756071568	1681	Q>L		No	ClinGen ExAC gnomAD
CA410749801 rs1200382164	1686	Q>E		No	ClinGen gnomAD
rs1181089297 CA410749784	1688	I>F		No	ClinGen gnomAD
rs1376594615 CA410749761	1691	M>V		No	ClinGen TOPMed
TCGA novel	1695	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10114834 rs777939619	1696	Y>F		No	ClinGen ExAC gnomAD
rs765346552 CA10114831	1700	E>D		No	ClinGen ExAC TOPMed gnomAD
CA410749673 rs1216742940	1703	Q>*		No	ClinGen TOPMed
CA10114830 rs759993882	1704	K>Q		No	ClinGen ExAC gnomAD
CA410749653 rs754163249	1705	D>E		No	ClinGen ExAC TOPMed gnomAD
CA410749655 rs1286076176	1705	D>V		No	ClinGen gnomAD
CA10114827 rs144899078	1706	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10114828 rs144899078	1706	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761412646 CA10114804	1708	I>V		No	ClinGen ExAC gnomAD
rs144327793 CA10114802	1709	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs762633445 CA10114801	1710	D>N		No	ClinGen ExAC TOPMed gnomAD
CA10114800 rs200428175	1713	D>E		No	ClinGen 1000Genomes ExAC gnomAD
RCV000203065 CA249267 rs142131375 RCV003153477	1713	D>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs142131375 CA410749597	1713	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1214614775 CA410749591	1714	Q>K		No	ClinGen gnomAD
CA10114797 rs770723933	1716	V>I		No	ClinGen ExAC TOPMed gnomAD
CA10114796 rs748265797	1717	E>K		No	ClinGen ExAC TOPMed gnomAD
CA10114794 rs755074101	1719	I>N		No	ClinGen ExAC gnomAD
rs778800490 CA10114795	1719	I>V		No	ClinGen ExAC gnomAD
CA10114792 rs150991785	1721	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10114793 rs150991785	1721	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs535382836 CA322245738	1723	L>S		No	ClinGen Ensembl
CA10114789 rs768105021	1725	G>S		No	ClinGen ExAC TOPMed gnomAD
rs751090021 CA10114787	1728	K>E		No	ClinGen ExAC gnomAD
rs763566602 CA10114786	1728	K>R		No	ClinGen ExAC gnomAD
CA10114785 rs201272315	1729	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs775320025 CA10114784	1731	Y>H		No	ClinGen ExAC gnomAD
CA10114781 rs770914654	1733	R>P		No	ClinGen ExAC gnomAD
CA10114780 rs770914654	1733	R>Q		No	ClinGen ExAC gnomAD
CA410749464 rs1475625889	1734	E>G		No	ClinGen gnomAD
rs1227912244 CA410749456	1735	F>S		No	ClinGen TOPMed gnomAD
CA410749448 rs1159483691	1736	D>G		No	ClinGen TOPMed
CA10114777 rs773198178	1738	F>I		No	ClinGen ExAC gnomAD
CA410749426 rs1291926744	1739	N>S		No	ClinGen gnomAD
CA10114776 rs768764961	1740	K>E		No	ClinGen ExAC gnomAD
CA410749418 rs1390556648	1740	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA410749412 rs1342095191	1741	I>F		No	ClinGen gnomAD
CA10114773 rs148493225	1743	N>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10114772 rs148493225	1743	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA10114770 rs757624678	1744	V>M		No	ClinGen ExAC gnomAD
CA410749387 rs1404611723	1745	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1601325043 CA410749383	1746	A>P		No	ClinGen Ensembl
CA10114766 rs752204863	1747	I>S		No	ClinGen ExAC gnomAD
CA10114767 rs758030157	1747	I>V		No	ClinGen ExAC gnomAD
rs765012656 CA10114765	1749	K>R		No	ClinGen ExAC gnomAD
CA10114749 rs758932352	1750	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1203369164 CA410749282	1750	P>L		No	ClinGen gnomAD
TCGA novel	1751	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410749254 rs1265188021	1752	P>L		No	ClinGen gnomAD
CA10114747 rs778623663	1755	D>N		No	ClinGen ExAC TOPMed gnomAD
CA322245173 rs967754314	1756	E>K		No	ClinGen TOPMed gnomAD
CA10114746 rs754531135	1758	K>N		No	ClinGen ExAC gnomAD
rs1414855077 CA410749177	1758	K>R		No	ClinGen TOPMed
rs1451587016 CA410749167	1759	K>*		No	ClinGen TOPMed gnomAD
CA410749157 rs1406584448	1759	K>N		No	ClinGen gnomAD
rs1451587016 CA410749170	1759	K>Q		No	ClinGen TOPMed gnomAD
rs753474722 CA10114745	1760	A>P		No	ClinGen ExAC gnomAD
rs753474722 CA410749153	1760	A>S		No	ClinGen ExAC gnomAD
CA410749148 rs1451241512	1760	A>V		No	ClinGen gnomAD
CA10114744 rs574095007	1763	S>A		No	ClinGen 1000Genomes ExAC gnomAD
CA10114743 rs557560570	1763	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA10114741 rs767451359	1764	A>S		No	ClinGen ExAC gnomAD
CA10114740 rs761685721	1768	V>L		No	ClinGen ExAC
CA322245149 rs2845533	1769	K>R		No	ClinGen TOPMed gnomAD
CA322245163 rs2845533	1769	K>T		No	ClinGen TOPMed gnomAD
CA410749073 rs1261536942	1770	V>E		No	ClinGen gnomAD
rs1485701743 CA410749075	1770	V>M		No	ClinGen gnomAD
CA410749065 rs1357403139	1771	Q>*		No	ClinGen gnomAD
CA410749070 rs1357403139	1771	Q>K		No	ClinGen gnomAD
CA410749049 rs1312787870	1772	P>L		No	ClinGen gnomAD
rs895284656 CA322245141	1773	G>S		No	ClinGen TOPMed
CA10114718 rs776731734	1774	C>R		No	ClinGen ExAC gnomAD
rs1465373309 CA410748862	1775	Y>H		No	ClinGen gnomAD
rs1601315566 CA410748832	1778	S>R		No	ClinGen Ensembl
rs1601315520 CA410748808	1779	N>T		No	ClinGen Ensembl
rs766513874 CA10114717	1781	E>K		No	ClinGen ExAC gnomAD
rs1269324992 CA410748772	1782	A>V		No	ClinGen gnomAD
rs1292788998 CA410748722	1786	D>Y		No	ClinGen TOPMed
rs748502707 CA10114713	1787	I>S		No	ClinGen ExAC gnomAD
CA10114714 rs772605979	1787	I>V		No	ClinGen ExAC gnomAD
CA10114711 rs769169832	1788	D>N		No	ClinGen ExAC gnomAD
rs769169832 CA410748701	1788	D>Y		No	ClinGen ExAC gnomAD
rs1404980748 CA410748686	1790	K>E		No	ClinGen gnomAD
TCGA novel	1791	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410748645 rs1327406709	1793	T>N		No	ClinGen gnomAD
rs755570403 CA10114708	1794	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779563104 CA10114709	1794	P>S		No	ClinGen ExAC gnomAD
CA322243725 rs62619942	1796	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA410748607 rs1257717158	1796	Q>R		No	ClinGen TOPMed
rs372013711 CA10114672	1799	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1568946156 CA410748501	1800	K>E		No	ClinGen Ensembl
rs1317931662 CA410748465	1802	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10114671 rs759079970	1803	Y>H		No	ClinGen ExAC gnomAD
CA10114669 rs770584565	1806	K>Q		No	ClinGen ExAC gnomAD
CA410748410 rs1422731057	1807	F>I		No	ClinGen gnomAD
CA10114668 rs746723093	1807	F>L		No	ClinGen ExAC gnomAD
CA10114667 rs777260523	1808	K>E		No	ClinGen ExAC gnomAD
TCGA novel	1808	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410748365 rs1473665078	1810	K>R		No	ClinGen gnomAD
CA410748355 rs1239957253	1811	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs771950804 CA410748353	1811	R>P		No	ClinGen ExAC TOPMed gnomAD
rs771950804 CA10114666	1811	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA10114665 rs747847491	1813	G>R		No	ClinGen ExAC gnomAD
rs1221873232 CA410748319	1814	V>I		No	ClinGen TOPMed
TCGA novel	1815	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410748299 rs1283371543	1815	S>T		No	ClinGen TOPMed
TCGA novel	1818	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750540734 CA10114662	1820	E>D		No	ClinGen ExAC gnomAD
CA10114663 rs754894539	1820	E>G		No	ClinGen ExAC gnomAD
CA410748221 rs1291235638	1821	G>S		No	ClinGen gnomAD
CA10114644 rs778512149	1823	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA10114645 rs747977862	1823	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA410748063 rs1601312703	1824	C>G		No	ClinGen Ensembl
CA10114642 rs749302136	1825	R>C		No	ClinGen ExAC gnomAD
rs780105234 CA10114641	1825	R>L		No	ClinGen ExAC gnomAD
CA410748050 rs749302136	1825	R>S		No	ClinGen ExAC gnomAD
rs1303578122 CA410748037	1826	S>*		No	ClinGen gnomAD
CA410748035 rs1303578122	1826	S>L		No	ClinGen gnomAD
CA410748043 rs1312829858	1826	S>P		No	ClinGen gnomAD
rs2227856 CA410748021	1827	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA322240710 rs12170233	1827	D>Y		No	ClinGen Ensembl
rs375172038 CA10114638	1829	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA10114636 rs753121484	1831	E>V		No	ClinGen ExAC gnomAD
CA10114634 rs755332092	1834	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA322240687 rs139668877	1835	Q>*		No	ClinGen ESP gnomAD
rs761427349 CA10114629	1838	D>E		No	ClinGen ExAC TOPMed gnomAD
CA10114630 rs772527919	1838	D>V		No	ClinGen ExAC gnomAD
CA410747858 rs559501850	1839	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs559501850 CA10114627	1839	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1189653568 CA410747835	1840	Q>R		No	ClinGen TOPMed
TCGA novel	1844	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10114626 rs768607079	1844	W>C		No	ClinGen ExAC gnomAD
TCGA novel	1844	W>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1316445225 CA410747728	1846	A>S		No	ClinGen gnomAD
rs1316445225 CA410747731	1846	A>T		No	ClinGen gnomAD
rs1308402005 CA410747694	1848	I>T		No	ClinGen gnomAD
CA410747700 rs1472180023	1848	I>V		No	ClinGen TOPMed
CA410747658 rs1434680280	1850	K>T		No	ClinGen TOPMed gnomAD
CA10114624 rs2539908 VAR_059549	1851	V>L	Variant assessed as Somatic; 0.0002158 impact. [NCI-TCGA]	No	ClinGen UniProt ExAC NCI-TCGA dbSNP gnomAD
CA10114622 rs777658730	1855	C>S		No	ClinGen ExAC gnomAD
CA410747583 rs777658730	1855	C>Y		No	ClinGen ExAC gnomAD
CA410747573 rs1159765642	1856	R>Q	Variant assessed as Somatic; 5.449e-05 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1359392529 CA410747575	1856	R>W		No	ClinGen TOPMed gnomAD
CA410747479 rs1568944289	1859	M>V		No	ClinGen Ensembl
CA410747455 rs528198701	1860	L>M		No	ClinGen 1000Genomes gnomAD
CA410747442 rs1356763832	1861	A>T		No	ClinGen gnomAD
CA410747416 rs1484849117	1863	Q>*		No	ClinGen TOPMed
rs1316849294 CA410747411	1863	Q>R		No	ClinGen gnomAD
CA410747311 rs1323448816	1869	K>E		No	ClinGen gnomAD
rs1191693736 CA410747295	1869	K>N		No	ClinGen TOPMed
rs1393323541 CA410747218	1873	Q>*		No	ClinGen gnomAD
rs375108843 CA10114604	1873	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA410747166 rs1424544127	1876	G>S		No	ClinGen TOPMed gnomAD
rs1377189755 CA410747112	1879	L>H		No	ClinGen gnomAD
rs1198067878 CA410747098	1880	F>C		No	ClinGen gnomAD
CA410747047 rs1464265867	1883	P>T		No	ClinGen TOPMed
rs1269388653 CA410747004	1885	R>H		No	ClinGen gnomAD
CA410746992 rs1338698528	1886	V>M		No	ClinGen gnomAD
rs1258268005 CA410746978	1887	V>M		No	ClinGen gnomAD
CA410746922 rs1200195440	1890	A>D		No	ClinGen TOPMed gnomAD
rs755125501 CA10114600	1892	G>V		No	ClinGen ExAC
CA410746839 rs1216521923	1894	G>R		No	ClinGen gnomAD
rs1288806292 CA410746787	1897	E>*		No	ClinGen TOPMed gnomAD
CA410746790 rs1288806292	1897	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA410746792 rs1288806292	1897	E>Q		No	ClinGen TOPMed gnomAD
rs1408245820 CA410746766	1898	C>R		No	ClinGen TOPMed
rs1226921246 CA410746756	1898	C>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs977849066 CA322240147	1899	I>M		No	ClinGen TOPMed gnomAD
CA410746747 rs1284977772	1899	I>V		No	ClinGen gnomAD
CA410746732 rs1324756805	1900	P>S		No	ClinGen gnomAD
CA10114574 rs757979070	1901	D>N		No	ClinGen ExAC TOPMed gnomAD
CA410746726 rs757979070	1901	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs752439843 CA10114573	1904	S>C		No	ClinGen ExAC gnomAD
TCGA novel	1904	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA410746652 rs1435517872	1905	R>Q		No	ClinGen TOPMed
CA410746653 rs1347836126	1905	R>W		No	ClinGen TOPMed
CA322240138 rs991475637	1910	R>C		No	ClinGen TOPMed gnomAD
CA410746477 rs1421033091	1914	F>I		No	ClinGen gnomAD
rs1220065602 CA410746380	1918	D>N		No	ClinGen gnomAD
rs1451381185 CA410746310	1921	T>I		No	ClinGen gnomAD
CA410746303 rs1291120894	1922	R>C		No	ClinGen gnomAD
CA322240135 rs977261864	1922	R>L		No	ClinGen Ensembl
rs773127016 CA410746239	1925	G>W		No	ClinGen ExAC TOPMed gnomAD
CA410746223 rs768760845	1926	D>G		No	ClinGen ExAC TOPMed gnomAD
rs768760845 CA10114566	1926	D>V		No	ClinGen ExAC TOPMed gnomAD
rs762994151 CA10114565	1927	E>*		No	ClinGen ExAC
CA10114563 rs770021423	1928	S>Y		No	ClinGen ExAC gnomAD
rs746227248 CA10114562	1929	T>A		No	ClinGen ExAC gnomAD
rs746227248 CA410746176	1929	T>P		No	ClinGen ExAC gnomAD
CA10114561 rs781565276	1929	T>S		No	ClinGen ExAC gnomAD
rs747587137 CA10114559	1930	L>Q		No	ClinGen ExAC
rs758032129 CA10114557	1931	A>P		No	ClinGen ExAC gnomAD
CA10114558 rs758032129	1931	A>T		No	ClinGen ExAC gnomAD
CA410746103 rs747613540	1933	Q>*		No	ClinGen ExAC gnomAD
CA10114556 rs747613540	1933	Q>K		No	ClinGen ExAC gnomAD
rs1189975339 CA410746073	1934	Q>P		No	ClinGen gnomAD
CA322239641 rs28385631	1936	R>C		No	ClinGen gnomAD
rs1181544882 CA410745476	1936	R>H		No	ClinGen TOPMed gnomAD
TCGA novel	1940	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10114532 rs767451281	1941	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1239351436 CA410745421	1941	R>Q		No	ClinGen gnomAD
CA410745375 rs1285248765	1945	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs765428288 CA10114529	1946	Y>C		No	ClinGen ExAC gnomAD
rs1318545370 CA410745344	1947	S>R		No	ClinGen gnomAD
CA410745339 rs1601306417	1948	L>F		No	ClinGen Ensembl
CA410745301 rs1310749638	1951	F>L		No	ClinGen gnomAD
rs1227743334 CA410745249	1956	K>R		No	ClinGen gnomAD
rs1601306343 CA410745163	1961	G>S		No	ClinGen Ensembl
rs1299380473 CA410745104	1963	I>T		No	ClinGen gnomAD
CA410745094 rs1268191202	1964	M>V		No	ClinGen TOPMed
rs370336178 CA410745044	1966	D>E		No	ClinGen ESP ExAC gnomAD
rs1367144383 CA410745056	1966	D>Y		No	ClinGen gnomAD
CA10114524 rs761153842	1968	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1410351838 CA410744974	1970	H>R		No	ClinGen TOPMed
rs772551031 CA10114522	1970	H>Y		No	ClinGen ExAC gnomAD
CA410744940 rs1164145657	1972	I>F		No	ClinGen TOPMed
CA10114520 rs774687511	1972	I>T		No	ClinGen ExAC
rs200341922	1974	I>=	Variant assessed as Somatic; 4.995e-05 impact. [NCI-TCGA]	No	NCI-TCGA
rs748696075 CA10114518	1975	D>N		No	ClinGen ExAC TOPMed gnomAD
CA410744709 rs1456995476	1977	G>R		No	ClinGen gnomAD
CA10114486 rs756231766	1979	M>K		No	ClinGen ExAC gnomAD
CA10114487 rs756231766	1979	M>T		No	ClinGen ExAC gnomAD
rs752666874 CA10114488	1979	M>V		No	ClinGen ExAC gnomAD
CA410744635 rs1234679882	1980	F>L		No	ClinGen gnomAD
CA410744642 rs1255899592	1980	F>S		No	ClinGen gnomAD
rs1342312361 CA410744647	1980	F>V		No	ClinGen gnomAD
rs750722400 CA10114485	1981	E>K		No	ClinGen ExAC gnomAD
CA410744596 rs1446528452	1982	S>R		No	ClinGen gnomAD
CA10114484 rs767582040	1983	S>L		No	ClinGen ExAC gnomAD
rs764672506 CA410744572	1984	P>A		No	ClinGen ExAC TOPMed gnomAD
rs763431357 CA10114480	1984	P>L		No	ClinGen ExAC gnomAD
CA10114481 rs764672506	1984	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1356764362 CA410744555	1985	G>C		No	ClinGen TOPMed
rs1396802284 CA410744529	1986	G>D		No	ClinGen gnomAD
CA10114476 rs776288318	1986	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1233133968 CA410744499	1988	L>F		No	ClinGen gnomAD
rs771895517 CA10114472	1989	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA322239197 rs147208397	1990	W>*		No	ClinGen Ensembl
rs1210972173 CA410744439	1991	E>G		No	ClinGen gnomAD
rs1239925195 CA410744397	1993	D>G		No	ClinGen gnomAD
CA10114467 rs781479336	1993	D>N		No	ClinGen ExAC TOPMed gnomAD
CA10114465 rs751795743	1994	I>M		No	ClinGen ExAC
rs764435245 CA10114464	1995	K>Q		No	ClinGen ExAC gnomAD
CA410744349 rs1354453948	1996	L>P		No	ClinGen gnomAD
CA10114462 rs753255175	1997	T>M		No	ClinGen ExAC gnomAD
CA410744318 rs1416678074	1999	E>*		No	ClinGen gnomAD
rs759077959 CA10114460	1999	E>V		No	ClinGen ExAC gnomAD
CA410744288 rs1418891487	2001	V>L		No	ClinGen gnomAD
CA410744261 rs1601304083	2002	M>I		No	ClinGen Ensembl
CA10114459 rs775938769	2002	M>V		No	ClinGen ExAC TOPMed gnomAD
CA10114458 rs766070144	2004	M>V		No	ClinGen ExAC TOPMed gnomAD
CA410744211 rs1471644171	2005	G>R		No	ClinGen gnomAD
rs760309894 CA410744178	2006	G>A		No	ClinGen ExAC TOPMed gnomAD
rs760309894 CA10114457	2006	G>D		No	ClinGen ExAC TOPMed gnomAD
CA410744188 rs1367516987	2006	G>S		No	ClinGen gnomAD
CA410744155 rs1261690585	2007	K>M		No	ClinGen gnomAD
rs769382830	2007	K>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA410744045 rs1447948466	2012	P>S		No	ClinGen TOPMed gnomAD
rs774458659 CA10114452	2016	F>C		No	ClinGen ExAC gnomAD
rs1169875484 CA410743962	2017	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA10114449 CA10114448 rs757356426	2019	M>I		No	ClinGen ExAC TOPMed gnomAD
rs745957098 CA10114450	2019	M>R		No	ClinGen ExAC gnomAD
rs745957098 CA410743909	2019	M>T		No	ClinGen ExAC gnomAD
rs768643768 CA10114451	2019	M>V		No	ClinGen ExAC TOPMed gnomAD
CA410743898 rs1338460027	2020	C>R		No	ClinGen gnomAD
CA10114447 rs371594013	2022	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA10114446 rs778038442	2022	R>Q	Variant assessed as Somatic; 0.0001386 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA410743846 rs1403366306	2024	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1403366306 CA410743845	2024	Y>F		No	ClinGen gnomAD
CA10114445 rs758787777	2025	L>P		No	ClinGen ExAC gnomAD
rs1212289123 CA410743835	2026	A>T		No	ClinGen TOPMed
CA410743823 rs1271745175	2027	V>L		No	ClinGen TOPMed
TCGA novel	2027	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765738913 CA10114443	2028	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753021700 CA10114444	2028	R>W		No	ClinGen ExAC gnomAD
rs769735124 CA10114413	2031	M>L		No	ClinGen ExAC TOPMed gnomAD
CA410743621 rs1442805805	2031	M>T		No	ClinGen gnomAD
CA410743628 rs769735124	2031	M>V		No	ClinGen ExAC TOPMed gnomAD
CA410743596 rs1400284105	2032	D>V		No	ClinGen gnomAD
rs200726040 CA10114411	2033	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs772127548 CA10114410	2033	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1434716073 CA410743563	2035	V>I		No	ClinGen gnomAD
CA10114407 rs769030291	2037	L>V		No	ClinGen ExAC gnomAD
TCGA novel	2038	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201792693 CA10114405	2040	L>I		No	ClinGen ExAC TOPMed gnomAD
CA410743466 rs201792693	2040	L>V		No	ClinGen ExAC TOPMed gnomAD
CA10114403 rs568339834	2044	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs751309478 CA10114400	2047	P>S		No	ClinGen ExAC
CA322238669 rs781648535	2050	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA10114399 rs554944815	2050	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA410742606 rs1351174914	2051	G>S		No	ClinGen TOPMed gnomAD
rs765101344 CA10114396	2054	I>V		No	ClinGen ExAC TOPMed
rs535848772 CA10114393	2056	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	2056	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA10114392 rs570069942	2058	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA410742374 rs1216235588	2063	P>A		No	ClinGen gnomAD
CA322238325 rs79559323	2065	M>L		No	ClinGen ExAC TOPMed gnomAD
CA10114372 rs146554837	2065	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs79559323 CA10114373	2065	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1384300442 CA410742321	2067	E>G		No	ClinGen gnomAD
CA10114371 rs763299355	2068	R>C		No	ClinGen ExAC TOPMed gnomAD
rs775542034 CA10114370	2068	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775542034 CA410742314	2068	R>L		No	ClinGen ExAC TOPMed gnomAD
CA10114368 rs746189043	2069	E>A		No	ClinGen ExAC TOPMed gnomAD
CA410742292 rs1168682657	2072	N>Y		No	ClinGen gnomAD
CA410742279 rs1461518104	2073	F>L		No	ClinGen gnomAD
rs1398365031 CA410742282	2073	F>Y		No	ClinGen gnomAD
CA322238271 rs896352026	2075	M>I		No	ClinGen TOPMed gnomAD
CA410742268 rs1169554638	2075	M>T		No	ClinGen TOPMed
rs1170999078 CA410742238	2079	Q>R		No	ClinGen TOPMed gnomAD
rs1430095833 CA410742214	2082	F>S		No	ClinGen gnomAD
CA410742186 rs1192767347	2086	R>T		No	ClinGen gnomAD
rs766316662 CA10114356	2088	R>Q		No	ClinGen ExAC gnomAD
rs935787895 CA322237704	2088	R>W		No	ClinGen TOPMed gnomAD
rs750352017 CA10114354	2091	D>N		No	ClinGen ExAC gnomAD
rs764271206 CA10114353	2097	Q>E		No	ClinGen ExAC gnomAD
CA322237678 rs1801983	2098	N>I		No	ClinGen Ensembl
TCGA novel	2101	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

3 associated diseases with P42356

[MIM: 616531]: Neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities (NEDSPLB)

A severe autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia. Brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum. Polymicrogyria may be observed in rare cases. Some patients have a primary immunodeficiency or gastrointestinal disturbances similar to inflammatory bowel disease. {ECO:0000269|PubMed:25855803, ECO:0000269|PubMed:34415310, ECO:0000269|PubMed:34415322}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 619708]: Gastrointestinal defects and immunodeficiency syndrome 2 (GIDID2)

A severe autosomal recessive disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen, bowel obstruction and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency. {ECO:0000269|PubMed:34415310}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 619621]: Spastic paraplegia 84, autosomal recessive (SPG84)

A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG84 is characterized by onset of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity in the first 2 decades of life. {ECO:0000269|PubMed:34415322}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A severe autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor or absent speech, axial hypotonia, and peripheral spasticity and hyperreflexia. Brain imaging shows hypomyelination with decreased white matter volume, cerebral and cerebellar atrophy, and thin corpus callosum. Polymicrogyria may be observed in rare cases. Some patients have a primary immunodeficiency or gastrointestinal disturbances similar to inflammatory bowel disease. {ECO:0000269|PubMed:25855803, ECO:0000269|PubMed:34415310, ECO:0000269|PubMed:34415322}. Note=The disease is caused by variants affecting the gene represented in this entry.
A severe autosomal recessive disorder characterized by multiple intestinal atresia apparent soon after birth. Affected infants have a distended abdomen, bowel obstruction and do not pass meconium. There is some evidence of inflammatory bowel disease. Death occurs in the first weeks of life. Some patients may also have immunodeficiency. {ECO:0000269|PubMed:34415310}. Note=The disease is caused by variants affecting the gene represented in this entry.
A form of spastic paraplegia, a neurodegenerative disorder characterized by a slow, gradual, progressive weakness and spasticity of the lower limbs. Rate of progression and the severity of symptoms are quite variable. Initial symptoms may include difficulty with balance, weakness and stiffness in the legs, muscle spasms, and dragging the toes when walking. In some forms of the disorder, bladder symptoms (such as incontinence) may appear, or the weakness and stiffness may spread to other parts of the body. SPG84 is characterized by onset of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity in the first 2 decades of life. {ECO:0000269|PubMed:34415322}. Note=The disease is caused by variants affecting the gene represented in this entry.

5 regional properties for P42356

Type	Name	Position	InterPro Accession
domain	Phosphatidylinositol 3-/4-kinase, catalytic domain	1808 - 2099	IPR000403
domain	Phosphoinositide 3-kinase, accessory (PIK) domain	1530 - 1729	IPR001263
conserved_site	Phosphatidylinositol 3/4-kinase, conserved site	1849 - 1863	IPR018936-1
conserved_site	Phosphatidylinositol 3/4-kinase, conserved site	1942 - 1962	IPR018936-2
domain	PI4-kinase, N-terminal	378 - 1514	IPR045495

Functions

		Description
EC Number	2.7.1.67	Phosphotransferases with an alcohol group as acceptor
Subcellular Localization	Cytoplasm Cell membrane	Localization to the plasma membrane is mediated by the PI4K complex and association with EFR3 (EFR3A or EFR3B), TTC7 (TTC7A or TTC7B) and HYCC (HYCC1 or HYCC2) (PubMed:23229899) Localization to the plasma membrane is regulated by TMEM150A (PubMed:25608530)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
focal adhesion	A cell-substrate junction that anchors the cell to the extracellular matrix and that forms a point of termination of actin filaments. In insects focal adhesion has also been referred to as hemi-adherens junction (HAJ).
Golgi-associated vesicle membrane	The lipid bilayer surrounding a vesicle associated with the Golgi apparatus.
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
1-phosphatidylinositol 4-kinase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol + ATP = 1-phosphatidyl-1D-myo-inositol 4-phosphate + ADP + 2 H(+).
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
kinase activity	Catalysis of the transfer of a phosphate group, usually from ATP, to a substrate molecule.
phosphatidylinositol kinase activity	Catalysis of the reaction: ATP + a phosphatidylinositol = ADP + a phosphatidylinositol phosphate.

7 GO annotations of biological process

Name	Definition
modulation by host of viral process	A process in which a host organism modulates the frequency, rate or extent of any of a process being mediated by a virus with which it is infected.
phosphatidylinositol biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol phosphate biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol phosphate.
phosphatidylinositol-mediated signaling	The series of molecular signals in which a cell uses a phosphatidylinositol-mediated signaling to convert a signal into a response. Phosphatidylinositols include phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
reorganization of cellular membranes to establish viral sites of replication	A process in intracellular membranes are reorganized by viral proteins that perturb membrane integrity and can cause an extensive rearrangement of cellular membranes, forming membranous webs, which are thought to be the site of replication or certain viruses, for example the HPV virus.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.

8 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9UBF8	PI4KB	Phosphatidylinositol 4-kinase beta	Homo sapiens (Human)	PR
O00443	PIK3C2A	Phosphatidylinositol 4-phosphate 3-kinase C2 domain-containing subunit alpha	Homo sapiens (Human)	PR
P48736	PIK3CG	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit gamma isoform	Homo sapiens (Human)	PR
P42336	PIK3CA	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit alpha isoform	Homo sapiens (Human)	PR
P42338	PIK3CB	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit beta isoform	Homo sapiens (Human)	PR
O00329	PIK3CD	Phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform	Homo sapiens (Human)	PR
O08662	Pi4ka	Phosphatidylinositol 4-kinase alpha	Rattus norvegicus (Rat)	PR
Q9SXA1	PI4KA1	Phosphatidylinositol 4-kinase alpha 1	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MAAAPARGGG	GGGGGGGGCS	GSGSSASRGF	YFNTVLSLAR	SLAVQRPASL	EKVQKLLCMC
70	80	90	100	110	120
PVDFHGIFQL	DERRRDAVIA	LGIFLIESDL	QHKDCVVPYL	LRLLKGLPKV	YWVEESTARK
130	140	150	160	170	180
GRGALPVAES	FSFCLVTLLS	DVAYRDPSLR	DEILEVLLQV	LHVLLGMCQA	LEIQDKEYLC
190	200	210	220	230	240
KYAIPCLIGI	SRAFGRYSNM	EESLLSKLFP	KIPPHSLRVL	EELEGVRRRS	FNDFRSILPS
250	260	270	280	290	300
NLLTVCQEGT	LKRKTSSVSS	ISQVSPERGM	PPPSSPGGSA	FHYFEASCLP	DGTALEPEYY
310	320	330	340	350	360
FSTISSSFSV	SPLFNGVTYK	EFNIPLEMLR	ELLNLVKKIV	EEAVLKSLDA	IVASVMEANP
370	380	390	400	410	420
SADLYYTSFS	DPLYLTMFKM	LRDTLYYMKD	LPTSFVKEIH	DFVLEQFNTS	QGELQKILHD
430	440	450	460	470	480
ADRIHNELSP	LKLRCQANAA	CVDLMVWAVK	DEQGAENLCI	KLSEKLQSKT	SSKVIIAHLP
490	500	510	520	530	540
LLICCLQGLG	RLCERFPVVV	HSVTPSLRDF	LVIPSPVLVK	LYKYHSQYHT	VAGNDIKISV
550	560	570	580	590	600
TNEHSESTLN	VMSGKKSQPS	MYEQLRDIAI	DNICRCLKAG	LTVDPVIVEA	FLASLSNRLY
610	620	630	640	650	660
ISQESDKDAH	LIPDHTIRAL	GHIAVALRDT	PKVMEPILQI	LQQKFCQPPS	PLDVLIIDQL
670	680	690	700	710	720
GCLVITGNQY	IYQEVWNLFQ	QISVKASSVV	YSATKDYKDH	GYRHCSLAVI	NALANIAANI
730	740	750	760	770	780
QDEHLVDELL	MNLLELFVQL	GLEGKRASER	ASEKGPALKA	SSSAGNLGVL	IPVIAVLTRR
790	800	810	820	830	840
LPPIKEAKPR	LQKLFRDFWL	YSVLMGFAVE	GSGLWPEEWY	EGVCEIATKS	PLLTFPSKEP
850	860	870	880	890	900
LRSVLQYNSA	MKNDTVTPAE	LSELRSTIIN	LLDPPPEVSA	LINKLDFAMS	TYLLSVYRLE
910	920	930	940	950	960
YMRVLRSTDP	DRFQVMFCYF	EDKAIQKDKS	GMMQCVIAVA	DKVFDAFLNM	MADKAKTKEN
970	980	990	1000	1010	1020
EEELERHAQF	LLVNFNHIHK	RIRRVADKYL	SGLVDKFPHL	LWSGTVLKTM	LDILQTLSLS
1030	1040	1050	1060	1070	1080
LSADIHKDQP	YYDIPDAPYR	ITVPDTYEAR	ESIVKDFAAR	CGMILQEAMK	WAPTVTKSHL
1090	1100	1110	1120	1130	1140
QEYLNKHQNW	VSGLSQHTGL	AMATESILHF	AGYNKQNTTL	GATQLSERPA	CVKKDYSNFM
1150	1160	1170	1180	1190	1200
ASLNLRNRYA	GEVYGMIRFS	GTTGQMSDLN	KMMVQDLHSA	LDRSHPQHYT	QAMFKLTAML
1210	1220	1230	1240	1250	1260
ISSKDCDPQL	LHHLCWGPLR	MFNEHGMETA	LACWEWLLAG	KDGVEVPFMR	EMAGAWHMTV
1270	1280	1290	1300	1310	1320
EQKFGLFSAE	IKEADPLAAS	EASQPKPCPP	EVTPHYIWID	FLVQRFEIAK	YCSSDQVEIF
1330	1340	1350	1360	1370	1380
SSLLQRSMSL	NIGGAKGSMN	RHVAAIGPRF	KLLTLGLSLL	HADVVPNATI	RNVLREKIYS
1390	1400	1410	1420	1430	1440
TAFDYFSCPP	KFPTQGEKRL	REDISIMIKF	WTAMFSDKKY	LTASQLVPPD	NQDTRSNLDI
1450	1460	1470	1480	1490	1500
TVGSRQQATQ	GWINTYPLSS	GMSTISKKSG	MSKKTNRGSQ	LHKYYMKRRT	LLLSLLATEI
1510	1520	1530	1540	1550	1560
ERLITWYNPL	SAPELELDQA	GENSVANWRS	KYISLSEKQW	KDNVNLAWSI	SPYLAVQLPA
1570	1580	1590	1600	1610	1620
RFKNTEAIGN	EVTRLVRLDP	GAVSDVPEAI	KFLVTWHTID	ADAPELSHVL	CWAPTDPPTG
1630	1640	1650	1660	1670	1680
LSYFSSMYPP	HPLTAQYGVK	VLRSFPPDAI	LFYIPQIVQA	LRYDKMGYVR	EYILWAASKS
1690	1700	1710	1720	1730	1740
QLLAHQFIWN	MKTNIYLDEE	GHQKDPDIGD	LLDQLVEEIT	GSLSGPAKDF	YQREFDFFNK
1750	1760	1770	1780	1790	1800
ITNVSAIIKP	YPKGDERKKA	CLSALSEVKV	QPGCYLPSNP	EAIVLDIDYK	SGTPMQSAAK
1810	1820	1830	1840	1850	1860
APYLAKFKVK	RCGVSELEKE	GLRCRSDSED	ECSTQEADGQ	KISWQAAIFK	VGDDCRQDML
1870	1880	1890	1900	1910	1920
ALQIIDLFKN	IFQLVGLDLF	VFPYRVVATA	PGCGVIECIP	DCTSRDQLGR	QTDFGMYDYF
1930	1940	1950	1960	1970	1980
TRQYGDESTL	AFQQARYNFI	RSMAAYSLLL	FLLQIKDRHN	GNIMLDKKGH	IIHIDFGFMF
1990	2000	2010	2020	2030	2040
ESSPGGNLGW	EPDIKLTDEM	VMIMGGKMEA	TPFKWFMEMC	VRGYLAVRPY	MDAVVSLVTL
2050	2060	2070	2080	2090	2100
MLDTGLPCFR	GQTIKLLKHR	FSPNMTEREA	ANFIMKVIQS	CFLSNRSRTY	DMIQYYQNDI

PY