AiPD: Autoinhibited Protein Database

Q01082

Gene name	SPTBN1 (SPTB2)
Protein name	Spectrin beta chain, non-erythrocytic 1
Names	Beta-II spectrin, Fodrin beta chain, Spectrin, non-erythroid beta chain 1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6711
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

2118-2209 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

2118-2209 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

4 structures for Q01082

Entry ID	Method	Resolution	Chain	Position	Source
1AA2	X-ray	200 A	A	173-280	PDB
1BKR	X-ray	110 A	A	172-280	PDB
3EDV	X-ray	195 A	A/B	1697-2015	PDB
AF-Q01082-F1	Predicted				AlphaFoldDB

1533 variants for Q01082

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_086305	59	T>I	DDISBA; affects function in neuronal axonal growth; reduced F-actin binding; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086306	183	C>del	DDISBA; affects function in neuronal axonal growth; decreased interaction with SPTAN1; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086307	205	G>D	DDISBA; affects function in neuronal axonal growth; forms cytosolic aggregates; decreased interaction with SPTAN1; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
CA346862402 rs1572690133 VAR_086308 RCV000787939	205	G>S	DDISBA; affects function in neuronal axonal growth; forms cytosolic aggregates; decreased interaction with SPTAN1; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_086309	247	L>H	DDISBA; affects function in neuronal axonal growth; forms cytosolic aggregates; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086310	250	L>R	DDISBA; affects function in neuronal axonal growth; forms cytosolic aggregates; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086311	255	D>E	DDISBA; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086312	268	T>A	DDISBA; affects function in neuronal axonal growth; no effect on F-actin binding; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086313	268	T>N	DDISBA; affects function in neuronal axonal growth; no effect on F-actin binding; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086314	268	T>S	DDISBA; affects function in neuronal axonal growth; no effect on F-actin binding; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086315	271	V>M	DDISBA; affects function in neuronal axonal growth; increased F-actin binding; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086316	275	H>R	DDISBA; affects function in neuronal axonal growth; increased F-actin binding; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086317	344	F>L	DDISBA; unknown pathological significance [UniProt]	Yes	UniProt
rs1424773337 VAR_086318 CA346869109	411	R>Q	DDISBA [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
VAR_086319	411	R>W	DDISBA; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086320	491	E>Q	DDISBA; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086321 rs1029360897 CA47501171	850	A>G	DDISBA; affects function in neuronal axonal growth; increased F-actin binding; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
VAR_086322	892	E>del	DDISBA; affects function in neuronal axonal growth; decreased ankyrin binding; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086323	1003	R>W	DDISBA; affects function in neuronal axonal growth; decreased interaction with SPTAN1; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
TCGA novel VAR_086324	1086	A>T	Variant assessed as Somatic; impact. DDISBA [NCI-TCGA, UniProt]	Yes	NCI-TCGA UniProt
VAR_086325	1110	E>D	DDISBA; distursb cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
CA1660994 VAR_086326 rs754643448	1398	G>S	DDISBA; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
VAR_086327	1674	S>P	DDISBA [UniProt]	Yes	UniProt
VAR_086328	1787	W>del	DDISBA; affects function in neuronal axonal growth; decreased ankyrin binding; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
VAR_086329	1886	E>Q	DDISBA; disturbs cytoskeleton organization and dynamics [UniProt]	Yes	UniProt
CA1659860 COSM191810 rs760932046	2	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1573338160 CA346853021	3	T>P		No	ClinGen Ensembl
CA1659862 rs775247950	4	T>A		No	ClinGen ExAC gnomAD
rs762739677 CA1659863	5	V>L		No	ClinGen ExAC gnomAD
CA346853085 rs1371433244	9	Y>C		No	ClinGen TOPMed
TCGA novel	11	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1659866 rs761388241	12	I>T		No	ClinGen ExAC gnomAD
CA346853119 rs1307967012	12	I>V		No	ClinGen gnomAD
CA47446868 rs1023977408	13	E>K		No	ClinGen TOPMed
rs545035727 CA1659867	14	I>N		No	ClinGen 1000Genomes ExAC gnomAD
rs878979075 CA47446883	19	S>G		No	ClinGen TOPMed
rs1415394254 CA346853244	22	N>K		No	ClinGen TOPMed
CA47446886 rs993278681	22	N>S		No	ClinGen TOPMed gnomAD
CA1659870 rs779865142	24	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1020765425 CA47446899	24	R>S		No	ClinGen gnomAD
CA346853308 rs1252120493	28	D>N		No	ClinGen TOPMed
rs1487714133 CA346853321	29	D>N		No	ClinGen TOPMed
rs779141673 CA1659873	32	N>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	36	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA47446936 rs921219631	38	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs975968980 CA47446929	38	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA346853450 rs1175742054	39	L>R		No	ClinGen TOPMed gnomAD
rs747589379 CA1659877	49	A>S		No	ClinGen ExAC gnomAD
rs372175923 CA1660055	52	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs763698667 CA1660059	62	K>N		No	ClinGen ExAC gnomAD
rs1427486074 CA346855325	69	A>S		No	ClinGen gnomAD
CA47468213 rs879170668	69	A>V		No	ClinGen Ensembl
CA1660063 rs750151837	70	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1660064 rs201537275	70	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA1660065 rs372308920	74	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA346855403 rs1377569267	74	R>W		No	ClinGen gnomAD
rs754128563 CA1660066	76	T>A		No	ClinGen ExAC gnomAD
rs754984929 CA1660067	76	T>I		No	ClinGen ExAC
TCGA novel	79	Y>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660068 rs535498551	80	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs748201873 CA1660069	80	T>I		No	ClinGen ExAC gnomAD
rs758901721 CA1660070	82	L>I		No	ClinGen ExAC
CA47468314 rs915376910	83	R>G		No	ClinGen Ensembl
TCGA novel	83	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771485544 CA1660073	86	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1209463186 CA346855647	86	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1553338193 RCV000520638 CA346855663	87	M>L		No	ClinGen ClinVar Ensembl dbSNP
TCGA novel	88	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1200931698 CA346855742	90	K>R		No	ClinGen TOPMed gnomAD
CA346855929 rs1447364083	98	E>D		No	ClinGen gnomAD
CA47468355 rs879077992	98	E>Q		No	ClinGen TOPMed
CA346858921 rs1460238000	107	R>Q		No	ClinGen TOPMed
rs776601275 CA47479670	111	H>P		No	ClinGen Ensembl
CA346858948 rs1230139029	111	H>Y		No	ClinGen gnomAD
TCGA novel	117	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	120	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA47479711 rs865903697	121	Q>*		No	ClinGen Ensembl
TCGA novel	130	L>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	131	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA47479717 rs940218532	133	M>I		No	ClinGen Ensembl
rs1488540762 CA346859107	133	M>V		No	ClinGen gnomAD
rs1037594763 CA47479721	134	G>R		No	ClinGen Ensembl
CA47479763 rs878964693	139	V>M		No	ClinGen gnomAD
rs1405074069 CA346859214	147	L>F		No	ClinGen gnomAD
rs878936548 CA47479772	153	I>V		No	ClinGen TOPMed
rs1262597029 CA346860976	164	V>L		No	ClinGen TOPMed
rs766704178 CA1660130	166	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	171	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758009293 CA1660132	180	L>M		No	ClinGen ExAC gnomAD
rs139706463 CA47483866	181	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	182	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1188192151 CA346861587	185	M>I		No	ClinGen gnomAD
CA47483889 rs929363603	185	M>V		No	ClinGen TOPMed gnomAD
rs1385666997 CA346862253	191	P>H		No	ClinGen TOPMed
CA346862254 rs1385666997	191	P>R		No	ClinGen TOPMed
CA1660149 rs372445691	192	N>S		No	ClinGen ESP ExAC gnomAD
rs1322401533 CA346862281	194	N>D		No	ClinGen gnomAD
CA1660150 rs754107495	194	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA346862298 rs1274894580	195	I>V		No	ClinGen gnomAD
TCGA novel	202	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1266703406 CA346862393	203	R>S		No	ClinGen gnomAD
CA47488546 rs2229506	204	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1660154 rs756750187	206	M>V		No	ClinGen ExAC gnomAD
CA1660155 rs780512831	209	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1201141791 CA346862482	216	R>Q		No	ClinGen gnomAD
rs770292236 CA1660187	217	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1660190 rs375829530	226	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA346862646 rs1199797472	226	K>R		No	ClinGen gnomAD
CA346862676 rs1253818986	228	S>C		No	ClinGen gnomAD
rs753410326 CA1660195	230	A>G		No	ClinGen ExAC gnomAD
rs760099132 CA1660193	230	A>S		No	ClinGen ExAC TOPMed gnomAD
rs760099132 CA1660192	230	A>T	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753410326 CA1660194	230	A>V		No	ClinGen ExAC gnomAD
CA47488950 rs931870990	231	H>R		No	ClinGen Ensembl
TCGA novel	234	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	235	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346862822 rs1354600872	239	N>S		No	ClinGen gnomAD
rs752488873 CA346862826	240	L>M		No	ClinGen ExAC TOPMed gnomAD
CA1660197 rs752488873	240	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1660201 rs771075596 COSM1581782 COSM1581781	246	G>S	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA346862869 rs1364793953	246	G>V		No	ClinGen gnomAD
rs745981014 CA1660203	248	T>S		No	ClinGen ExAC gnomAD
TCGA novel	252	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346863655 rs1161589617	257	S>N		No	ClinGen gnomAD
CA346863666 rs1346058982	258	V>M		No	ClinGen gnomAD
rs769056045 CA1660226	259	D>H		No	ClinGen ExAC gnomAD
TCGA novel	261	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1287585557 CA346863787	266	I>V		No	ClinGen gnomAD
CA346863861 rs1371126439	272	T>A		No	ClinGen TOPMed
rs759081481 CA1660231	273	Y>F		No	ClinGen ExAC gnomAD
CA1660232 rs764904043	276	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	277	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774879476 CA346863956	278	S>C		No	ClinGen ExAC gnomAD
CA1660233 rs774879476	278	S>F		No	ClinGen ExAC gnomAD
CA47491010 rs750090151	283	L>V		No	ClinGen Ensembl
CA1660264 rs779442541	296	N>S		No	ClinGen ExAC TOPMed gnomAD
CA1660265 rs753318528	298	I>T		No	ClinGen ExAC gnomAD
TCGA novel	299	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346864974 rs1227199822	299	E>K		No	ClinGen TOPMed gnomAD
CA1660266 rs758818800	302	K>R		No	ClinGen ExAC gnomAD
rs1340779326 CA346865105	303	M>V		No	ClinGen gnomAD
rs778220738 CA1660267	306	K>E		No	ClinGen ExAC gnomAD
CA346865218 rs1348726390	306	K>N		No	ClinGen Ensembl
rs1274266968 CA346865278	308	E>G		No	ClinGen gnomAD
CA1660268 rs747413180	309	S>L		No	ClinGen ExAC gnomAD
CA1660269 rs769441745	312	S>C		No	ClinGen ExAC TOPMed gnomAD
CA346865378 rs1558437197	313	D>E		No	ClinGen Ensembl
rs1245342105 CA346865414	315	L>P		No	ClinGen gnomAD
CA1660271 rs748801644	317	W>C		No	ClinGen ExAC gnomAD
rs562007421 CA1660273	322	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1424416975 CA346865600	323	I>S		No	ClinGen TOPMed gnomAD
rs1424416975 CA346865598	323	I>T		No	ClinGen TOPMed gnomAD
CA47491406 rs914153728	326	N>D		No	ClinGen Ensembl
CA47491410 rs113726088	327	N>S		No	ClinGen Ensembl
CA47491408 rs113726088	327	N>T		No	ClinGen Ensembl
rs772951380 CA1660276	328	R>C		No	ClinGen ExAC TOPMed gnomAD
CA1660277 rs187892511	328	R>H		No	ClinGen 1000Genomes ExAC gnomAD
CA1660279 rs754044041	329	K>E		No	ClinGen ExAC gnomAD
CA1660280 rs759655083	332	N>S		No	ClinGen ExAC gnomAD
rs1324642784 CA346865888	337	V>L		No	ClinGen gnomAD
rs751462987 CA47491423	339	Q>R		No	ClinGen Ensembl
CA1660287 rs779753987	345	N>S		No	ClinGen ExAC gnomAD
rs1448921831 CA346866168	346	T>S		No	ClinGen gnomAD
rs1314851710 CA346866209	348	R>C		No	ClinGen TOPMed
CA1660288 rs748951777	348	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs878956007 CA47491427	350	V>L		No	ClinGen Ensembl
TCGA novel	351	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373111088 CA1660290	354	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1660291 rs747687585	354	P>L		No	ClinGen ExAC gnomAD
rs771945834 CA1660292	355	K>R		No	ClinGen ExAC gnomAD
TCGA novel	359	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	366	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660316 rs201219169	368	T>A		No	ClinGen ExAC TOPMed gnomAD
CA346866896 rs1247119948	368	T>N		No	ClinGen TOPMed
rs151258127 CA1660317	369	I>S		No	ClinGen ESP ExAC TOPMed
rs746975142 CA1660318	373	M>L		No	ClinGen ExAC gnomAD
CA346867040 rs746975142	373	M>V		No	ClinGen ExAC gnomAD
rs770910553 CA1660319	376	N>H		No	ClinGen ExAC gnomAD
rs1572699879 CA346867129	376	N>S		No	ClinGen Ensembl
rs1284851049 CA346867207	378	Q>R		No	ClinGen TOPMed
rs553032217 CA47492091	380	V>A		No	ClinGen ExAC gnomAD
CA1660322 rs553032217	380	V>G		No	ClinGen ExAC gnomAD
CA346867260 rs1186436567	380	V>I		No	ClinGen gnomAD
rs775898205 CA1660323	381	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs775898205 CA47492098	381	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs774587397 CA1660327 CA1660326	382	M>I		No	ClinGen ExAC TOPMed gnomAD
rs369151372 CA346867317	382	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369151372 CA1660325	382	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	384	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346867404 rs1392293475	384	R>Q		No	ClinGen gnomAD
rs376550129 COSM1227465 COSM1227466 CA1660329	384	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA1660330 rs756549162	387	K>T		No	ClinGen ExAC gnomAD
rs1248432966 CA346867509	388	L>F		No	ClinGen TOPMed gnomAD
CA346867570 rs1315906838	390	S>C		No	ClinGen gnomAD
CA346867573 rs1315906838	390	S>F		No	ClinGen gnomAD
CA346868913 rs1236840525	400	E>D		No	ClinGen TOPMed
rs1335091475 CA346868923	401	K>R		No	ClinGen TOPMed
CA1660351 rs766783343	402	A>V		No	ClinGen ExAC gnomAD
CA1660353 rs762522643	404	H>Y		No	ClinGen ExAC gnomAD
CA346869139 rs1239680660	412	N>K		No	ClinGen TOPMed gnomAD
rs1281248920 CA346869128	412	N>S		No	ClinGen gnomAD
CA346869191 rs1156276778	413	E>D		No	ClinGen TOPMed
rs142550031 CA346869290	417	Q>H		No	ClinGen Ensembl
TCGA novel	417	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1314823668 CA346869347	420	L>M		No	ClinGen gnomAD
CA346869413 rs1260807866	424	A>T		No	ClinGen gnomAD
CA1660357 rs780991041	425	R>C		No	ClinGen ExAC TOPMed gnomAD
rs780991041 CA346869429	425	R>G		No	ClinGen ExAC TOPMed gnomAD
rs750434494 CA1660358	425	R>H		No	ClinGen ExAC gnomAD
rs538707375 CA47493189	427	F>S		No	ClinGen 1000Genomes
rs969289210 CA47493192	429	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1481692149 CA346869516	429	R>H		No	ClinGen TOPMed gnomAD
CA346869509 rs1481692149	429	R>L		No	ClinGen TOPMed gnomAD
CA346869559 rs1572702128	432	A>T		No	ClinGen Ensembl
CA1660360 rs779930939	432	A>V		No	ClinGen ExAC gnomAD
rs1268469924 CA346869581	433	M>V		No	ClinGen TOPMed
CA1660361 rs749127274	438	L>M		No	ClinGen ExAC gnomAD
rs1161479264 CA346869736	438	L>Q		No	ClinGen gnomAD
CA1660363 rs779243189	441	N>S		No	ClinGen ExAC gnomAD
rs1367431475 CA346869876	443	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1660365 rs772259760 COSM2149008 COSM2149009	443	R>H	Variant assessed as Somatic; 4.703e-05 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA346869976 rs1204617694	447	Q>E		No	ClinGen TOPMed
CA1660391 rs137912711	449	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs767109477 CA1660393	453	D>H		No	ClinGen ExAC gnomAD
CA47498228 rs201571724	454	L>I		No	ClinGen 1000Genomes
rs1039249066 CA47498230	455	P>S		No	ClinGen gnomAD
rs1292787651 CA346871504	456	A>G		No	ClinGen TOPMed
TCGA novel	462	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	463	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660398 rs754714514	471	I>V		No	ClinGen ExAC gnomAD
rs752434436 COSM1408555 CA1660400 COSM1408554	473	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1173423812 CA346871940	474	Y>H		No	ClinGen TOPMed
rs747062361 COSM1021657 CA1660403 COSM1021656	475	E>K	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
TCGA novel	481	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660407 rs770208658	482	V>A		No	ClinGen ExAC TOPMed gnomAD
CA1660406 rs746320523	482	V>I		No	ClinGen ExAC gnomAD
CA346872179 rs1572703954	484	V>G		No	ClinGen Ensembl
rs1194219829 CA346872213	486	R>G		No	ClinGen gnomAD
rs1572703975 CA346872259	487	E>G		No	ClinGen Ensembl
TCGA novel	489	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346872302 rs1467998194	489	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA47498313 rs1004514484	490	A>S		No	ClinGen Ensembl
CA346872337 rs1178288811	490	A>V		No	ClinGen gnomAD
rs960472054 CA47498318	491	E>G		No	ClinGen Ensembl
CA346872420 rs1315697826	492	N>S		No	ClinGen gnomAD
CA346872467 rs1200717534	494	H>Y		No	ClinGen TOPMed
TCGA novel	495	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1345312255 CA346872520	496	I>L		No	ClinGen gnomAD
CA346872535 rs1222115944	496	I>M		No	ClinGen gnomAD
rs1345312255 CA346872525	496	I>V		No	ClinGen gnomAD
CA1660416 rs199862700 COSM1581786 COSM1581785	497	K>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs199862700 CA1660417	497	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1021658 COSM1021659 CA346872563 rs1225971103	498	R>H	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA346872584 rs1204705043	499	I>V		No	ClinGen gnomAD
CA346872655 rs76198367	501	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346872638 rs1366596721	501	A>T		No	ClinGen TOPMed
CA1660419 rs76198367	501	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1660421 rs757489341	505	N>D		No	ClinGen ExAC gnomAD
rs781182658 CA1660423	505	N>I		No	ClinGen ExAC gnomAD
rs781182658 CA1660422	505	N>S		No	ClinGen ExAC gnomAD
rs780475934 CA1660425	507	I>F		No	ClinGen ExAC TOPMed gnomAD
CA346872811 rs1382549698	507	I>S		No	ClinGen TOPMed
rs780475934 CA346872805	507	I>V		No	ClinGen ExAC TOPMed gnomAD
CA346872827 rs1156390504	508	R>Q		No	ClinGen gnomAD
COSM3380175 COSM3380174 rs144666036 CA47498357	508	R>W	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA1660428 rs201568567	518	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs866456257 CA346873084	519	A>S		No	ClinGen gnomAD
CA47498373 rs866456257	519	A>T		No	ClinGen gnomAD
rs1167413670 CA346873131	520	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA346873169 rs1403631935	521	R>K		No	ClinGen TOPMed gnomAD
COSM129417 CA1660430 rs202075412	523	R>Q	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1660429 rs368076199	523	R>W		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs140411223 CA1660433	525	E>K		No	ClinGen ESP ExAC gnomAD
rs140411223 CA346873251	525	E>Q		No	ClinGen ESP ExAC gnomAD
CA1660434 rs775360024	526	M>L		No	ClinGen ExAC TOPMed gnomAD
CA47498389 rs867367291	526	M>T		No	ClinGen TOPMed
rs934674574 CA346873313	528	L>V		No	ClinGen gnomAD
CA346873326 CA346873323 rs1267808511	529	G>R		No	ClinGen TOPMed gnomAD
CA346873347 rs1478025135	530	L>M		No	ClinGen gnomAD
CA346873454 rs1436967205	533	I>L		No	ClinGen gnomAD
rs1203836280 CA346873477	534	F>L		No	ClinGen TOPMed
CA1660436 rs763822075	536	E>D		No	ClinGen ExAC gnomAD
rs1439906228 CA346873625	537	M>T		No	ClinGen gnomAD
CA346873644 rs1276115717	538	L>F		No	ClinGen TOPMed
CA1660439 rs767749932	539	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	540	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1614947 COSM1614946 CA47498430 rs200538825	541	M>V	liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA346873784 rs1285169500	544	M>I		No	ClinGen TOPMed
rs1295747178 CA346873803	545	D>E		No	ClinGen gnomAD
rs1450553356 CA346873800	545	D>V		No	ClinGen TOPMed
CA346873843 rs1391938587	548	K>R		No	ClinGen TOPMed gnomAD
CA346875929 rs1283667641	549	V>L		No	ClinGen TOPMed
CA47499673 rs528869019 CA47499678	551	V>L		No	ClinGen 1000Genomes TOPMed
CA1660461 rs549681124	553	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
rs1426267657 CA346875962	555	D>N		No	ClinGen gnomAD
rs765858276 CA1660462	556	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA47499710 rs905247429	556	Y>H		No	ClinGen gnomAD
CA346876005 rs1384268469	561	L>I		No	ClinGen gnomAD
rs1380476937 CA346876009	561	L>P		No	ClinGen gnomAD
rs753086001 CA1660463	562	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA346876027 rs1222720229	564	E>V		No	ClinGen gnomAD
TCGA novel	565	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs780887183 CA1660465	570	H>D		No	ClinGen ExAC gnomAD
CA1660466 rs745456074	573	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1210303097 CA346876113	576	D>H		No	ClinGen gnomAD
TCGA novel	580	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1484580094 CA346876170	582	E>V		No	ClinGen gnomAD
rs563038561 CA47499748	583	R>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA47499745 rs563038561	583	R>P		No	ClinGen 1000Genomes TOPMed gnomAD
rs563038561 CA346876179	583	R>Q		No	ClinGen 1000Genomes TOPMed gnomAD
CA346876177 rs1215130610	583	R>W		No	ClinGen gnomAD
CA346876190 rs1572707774	584	V>G		No	ClinGen Ensembl
CA346876212 rs1427554641	587	V>I		No	ClinGen gnomAD
CA1660468 rs181708008	588	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346876248 rs1363327067	589	A>P		No	ClinGen gnomAD
TCGA novel	591	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660471 rs369418271	591	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA47499774 rs1021178537	592	Q>R		No	ClinGen gnomAD
TCGA novel	593	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660473 rs201374382	593	K>R		No	ClinGen ExAC gnomAD
CA346876363 rs761403914	594	F>L		No	ClinGen ExAC gnomAD
CA1660475 rs760741921	595	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1660476 rs760741921	595	A>T		No	ClinGen ExAC TOPMed gnomAD
rs776520290 CA1660477	597	D>G		No	ClinGen ExAC gnomAD
rs765805170 CA1660479	598	G>R		No	ClinGen ExAC TOPMed gnomAD
CA346876439 rs1222320896	599	E>K		No	ClinGen gnomAD
CA346876435 rs1222320896	599	E>Q		No	ClinGen gnomAD
CA1660504 rs753549564	602	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	603	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660505 rs754636354	604	C>Y		No	ClinGen ExAC gnomAD
rs1331555523 CA346877040	606	P>L		No	ClinGen gnomAD
TCGA novel	610	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346877191 rs369315226	610	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1660507 rs369315226	610	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs370833054 CA1660508	612	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs777810695 CA1660509	612	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs777810695 CA346877233	612	R>L		No	ClinGen ExAC TOPMed gnomAD
rs770822811 CA1660511	613	V>M		No	ClinGen ExAC gnomAD
CA346877328 rs746024075	615	H>L		No	ClinGen ExAC gnomAD
CA1660513 rs746024075	615	H>P		No	ClinGen ExAC gnomAD
rs374305623 CA1660515	616	M>I		No	ClinGen ESP ExAC gnomAD
CA1660514 rs770175089	616	M>L		No	ClinGen ExAC gnomAD
rs1558444626 CA346877388	617	E>K		No	ClinGen Ensembl
rs367983765 CA346877565	623	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs367983765 CA1660518	623	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1454025492 CA346877666	626	L>V		No	ClinGen TOPMed
rs557616559 CA1660519	627	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	629	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1445404689 CA346877734	629	E>K		No	ClinGen TOPMed
rs1412395889 CA346877781	630	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs759145266 CA346877837	632	A>S		No	ClinGen ExAC TOPMed gnomAD
rs759145266 CA1660522	632	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1449428830 CA346877845	632	A>V		No	ClinGen gnomAD
CA47500567 rs185213402	633	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs185213402 CA346877861	633	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752181604 CA1660524	633	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1660523 rs185213402	633	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	637	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1572709678 CA346877959	637	S>P		No	ClinGen Ensembl
rs993913630 CA47500593	638	R>C		No	ClinGen gnomAD
rs1023967986 CA47500602	638	R>H		No	ClinGen Ensembl
rs781186461 CA346877996	639	R>C		No	ClinGen gnomAD
COSM191830 CA346877999 rs1198881248	639	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs781186461 CA47500608	639	R>S		No	ClinGen gnomAD
CA1660526 rs777566639	640	L>F		No	ClinGen ExAC gnomAD
TCGA novel	641	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1260998406 CA346878204	647	M>I		No	ClinGen gnomAD
rs751570635 CA1660527	647	M>T		No	ClinGen ExAC gnomAD
CA346878348 rs1354284032	652	G>A		No	ClinGen TOPMed gnomAD
rs781096558 CA1660529	652	G>S		No	ClinGen ExAC TOPMed gnomAD
CA346878404 rs1282130725	654	I>M		No	ClinGen TOPMed gnomAD
rs745680989 CA1660530	654	I>V		No	ClinGen ExAC TOPMed gnomAD
rs780467374 CA1660532	655	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs770119750 CA346878417	655	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA346878431 rs1172278211	656	E>K		No	ClinGen TOPMed
CA1660533 rs139552585	657	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346878512 rs1396051517	658	E>G		No	ClinGen TOPMed
rs768841140 CA1660534	659	K>Q		No	ClinGen ExAC gnomAD
CA346878642 rs1359256110	663	S>L		No	ClinGen gnomAD
rs966664796 CA47500652	665	D>G		No	ClinGen TOPMed
CA1660539 rs761072718	667	G>R		No	ClinGen ExAC gnomAD
CA346878957 CA346878961 rs762355293	672	S>R		No	ClinGen ExAC TOPMed gnomAD
rs763600413 CA1660543	673	V>I		No	ClinGen ExAC gnomAD
rs1355773533 CA346878981	674	M>V		No	ClinGen gnomAD
rs1217173204 CA346879024	675	R>C		No	ClinGen gnomAD
CA346879034 rs1267944879	675	R>H		No	ClinGen gnomAD
rs757172022 CA1660545	681	R>Q		No	ClinGen ExAC gnomAD
CA47500692 rs767613378	682	A>S		No	ClinGen ExAC TOPMed gnomAD
rs767613378 CA1660546	682	A>T		No	ClinGen ExAC TOPMed gnomAD
CA346879253 rs1572709995	683	F>C		No	ClinGen Ensembl
CA346879272 rs1341810118	684	E>G		No	ClinGen TOPMed
CA1660548 rs756044802	684	E>K		No	ClinGen ExAC gnomAD
CA346879312 rs1385498046	686	E>K		No	ClinGen TOPMed gnomAD
rs1331965648 CA346879409	689	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA346879438 TCGA novel rs1572710076	690	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs1572710076 CA346879434	690	R>L		No	ClinGen Ensembl
CA47500731 rs922659479	690	R>S		No	ClinGen TOPMed gnomAD
CA1660551 rs755157018	691	S>R		No	ClinGen ExAC gnomAD
rs112170553 COSM1668928 COSM1668927 CA47500739	694	F>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated Ensembl
CA346879564 rs1307192260	695	E>G		No	ClinGen gnomAD
rs1355881852 CA346879577	696	Q>L		No	ClinGen gnomAD
rs1240829224 CA346879585	697	A>T		No	ClinGen gnomAD
CA346879661 rs1291000052	700	E>D		No	ClinGen gnomAD
rs748195569 CA1660553	702	E>K		No	ClinGen ExAC gnomAD
TCGA novel	703	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772541676 CA1660554	705	I>T		No	ClinGen ExAC gnomAD
rs373251033 CA346879833	706	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA1660556 rs369056568	706	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1660557 rs373251033	706	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA346879855 rs1182416997	707	E>G		No	ClinGen gnomAD
rs1558445222 CA346879916	709	H>N		No	ClinGen Ensembl
CA47500755 rs911891067	711	G>R		No	ClinGen TOPMed gnomAD
CA1660561 rs149728664	712	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1052626062 CA47500759	714	K>E		No	ClinGen TOPMed
CA346880138 rs767562439	714	K>N		No	ClinGen ExAC TOPMed gnomAD
rs750448290 CA1660564	716	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs376808829 CA1660565	716	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1572710282 CA346880232	717	E>D		No	ClinGen Ensembl
rs766133768 CA1660566	717	E>G		No	ClinGen ExAC TOPMed gnomAD
rs753604087 CA1660567	718	R>S		No	ClinGen ExAC gnomAD
rs370680480 CA1660568	720	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1259642051 CA346880421	722	I>N		No	ClinGen gnomAD
CA1660569 rs779049731	722	I>V		No	ClinGen ExAC TOPMed gnomAD
rs758541003 CA1660571	723	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1660570 rs373885580	723	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs778239630 CA1660572	725	Q>E		No	ClinGen ExAC gnomAD
rs1190163539 CA346880576	727	A>T		No	ClinGen gnomAD
CA346880638 rs1477722827	729	L>I		No	ClinGen gnomAD
CA346880652 rs1168955048	730	E>Q		No	ClinGen gnomAD
CA1660575 rs781573498	731	Q>H		No	ClinGen ExAC gnomAD
CA47500803 rs577860631	731	Q>R		No	ClinGen gnomAD
COSM3799070 COSM3799071 CA346880754 rs1302344153	733	S>L	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1660578 rs368106495	734	A>V		No	ClinGen ESP ExAC gnomAD
rs1332376677 CA346880815	735	I>V		No	ClinGen TOPMed
rs993769854 CA47500821	736	R>L		No	ClinGen TOPMed
rs370008657 CA47500818	736	R>W		No	ClinGen ESP TOPMed
CA346880860 rs1241766956	737	K>E		No	ClinGen gnomAD
rs1164246448 CA346880903	739	R>C		No	ClinGen TOPMed
rs762626546 CA1660581	739	R>H		No	ClinGen ExAC TOPMed gnomAD
rs762626546 CA1660580	739	R>L		No	ClinGen ExAC TOPMed gnomAD
rs766247389 CA1660583	741	E>A		No	ClinGen ExAC gnomAD
CA346880939 rs766247389	741	E>V		No	ClinGen ExAC gnomAD
rs1183506425 CA346881007	746	L>M		No	ClinGen TOPMed
rs1483923885 CA346881016	746	L>P		No	ClinGen gnomAD
rs1349885731 CA346881026	747	H>N		No	ClinGen gnomAD
CA346881238 rs1232086073	756	I>T		No	ClinGen TOPMed
rs1200769270 CA346881339	762	D>Y		No	ClinGen TOPMed gnomAD
CA47500876 rs1045469730	763	I>S		No	ClinGen Ensembl
rs1572710546 CA346881352	763	I>V		No	ClinGen Ensembl
rs1257545966 CA346881364	764	L>V		No	ClinGen gnomAD
CA346881375 rs1458772146	765	K>R		No	ClinGen TOPMed
rs1232107418 CA346881456	770	S>G		No	ClinGen TOPMed
rs1321762020 CA346881461	770	S>N		No	ClinGen TOPMed
CA1660593 rs746240244	771	D>N		No	ClinGen ExAC TOPMed gnomAD
rs780484504 CA1660595	772	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1804471 CA1660597	775	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA47500913 rs1804471	775	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1558445670 CA346881706	780	Q>E		No	ClinGen Ensembl
TCGA novel	780	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	781	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660602 rs759362672	787	K>Q		No	ClinGen ExAC
rs764882236 CA1660603	788	D>G		No	ClinGen ExAC gnomAD
CA47500956 COSM129418 rs957422145	789	V>M	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA47500971 rs1020175965	790	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs751609029 CA1660607	794	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA346882029 rs1190949778	794	A>V		No	ClinGen gnomAD
CA1660608 rs757348488	795	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1435120150 CA346882107	798	P>S		No	ClinGen TOPMed gnomAD
CA346882123 rs1572710815	799	T>P		No	ClinGen Ensembl
CA1660609 rs768055976	800	L>I		No	ClinGen ExAC gnomAD
rs756652288 CA1660611	802	T>M		No	ClinGen ExAC TOPMed gnomAD
CA1660614 rs749696092	804	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA346882277 rs1291560061	805	E>A		No	ClinGen gnomAD
CA1660615 rs777604672	805	E>K		No	ClinGen ExAC gnomAD
rs372514291 CA1660616	808	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA346882372 rs1307917517	809	A>G		No	ClinGen gnomAD
rs530090042 CA47501036	809	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs530090042 CA1660617	809	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA1660618 rs776218325	810	L>I		No	ClinGen ExAC gnomAD
TCGA novel	810	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs550168582 CA346882416	811	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1660620 rs550168582	811	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346882459 rs1489594545	814	H>Y		No	ClinGen gnomAD
CA1660622 rs141532384	816	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141532384 CA47501066	816	E>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200826616 CA1660623	816	E>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346882540 rs1380905593	818	P>L		No	ClinGen TOPMed gnomAD
rs774614800 CA1660624	818	P>S		No	ClinGen ExAC gnomAD
rs762112899 CA1660625	819	D>H		No	ClinGen ExAC gnomAD
CA346882556 rs1451568073	819	D>V		No	ClinGen TOPMed
rs762112899 CA346882553	819	D>Y		No	ClinGen ExAC gnomAD
CA346882575 rs199983189 CA346882573	820	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1660627 rs199983189 COSM247593	820	V>M	prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs756533316 CA1660628	821	R>K		No	ClinGen ExAC TOPMed gnomAD
CA1660629 rs767039139	821	R>S		No	ClinGen ExAC gnomAD
CA346882610 rs1393022824	823	R>G		No	ClinGen TOPMed
CA1660631 rs755455957	825	S>L		No	ClinGen ExAC TOPMed gnomAD
CA346882668 rs755455957	825	S>W		No	ClinGen ExAC TOPMed gnomAD
CA1660633 rs369223422	827	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1660634 rs139312862	828	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA346882704 rs1311053547	829	E>G		No	ClinGen gnomAD
CA346882700 rs1558446031	829	E>Q		No	ClinGen Ensembl
rs745404781 CA1660636	830	R>Q		No	ClinGen ExAC gnomAD
CA346882731 rs1558446045	830	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1287429773 CA346882839	833	E>Q		No	ClinGen TOPMed
CA1660637 rs769588174	834	V>M		No	ClinGen ExAC gnomAD
CA47501109 rs1045396295	835	A>T		No	ClinGen gnomAD
rs775473946 CA1660638	836	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1572711190 CA346882976	838	T>A		No	ClinGen Ensembl
CA346882992 rs879005866	838	T>K		No	ClinGen TOPMed gnomAD
CA47501129 rs879005866	838	T>M		No	ClinGen TOPMed gnomAD
CA1660640 rs768383859	839	R>Q		No	ClinGen ExAC gnomAD
COSM1408561 COSM1408560 CA1660639 rs749069838	839	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA47501137 rs937138547	841	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1400577355 CA346883150	844	A>E		No	ClinGen TOPMed gnomAD
CA1660641 rs774140846	844	A>T		No	ClinGen ExAC gnomAD
rs35347911 CA346883218	846	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA1660648 rs760133356	852	Y>C		No	ClinGen ExAC gnomAD
rs767166000 CA47501172	853	K>R		No	ClinGen gnomAD
rs1316301725 CA346883518	856	S>T		No	ClinGen gnomAD
rs1273833596 CA346883582	858	A>G		No	ClinGen gnomAD
rs1558446251 CA346883619	859	D>V		No	ClinGen Ensembl
rs1441877986 CA346883598	859	D>Y		No	ClinGen gnomAD
CA1660652 rs780940173	861	C>R		No	ClinGen ExAC gnomAD
CA346883724 rs1466262038	863	L>R		No	ClinGen TOPMed
CA47501247 rs201598698	866	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755679177 CA1660654	866	D>N		No	ClinGen ExAC gnomAD
rs755679177 CA1660655	866	D>Y		No	ClinGen ExAC gnomAD
CA47501257 rs1029708494	871	W>C		No	ClinGen Ensembl
rs148657379 CA1660660	873	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1412306467 CA346883949	873	N>I		No	ClinGen TOPMed gnomAD
rs1412306467 CA346883947	873	N>S		No	ClinGen TOPMed gnomAD
CA1660661 rs773548061	874	N>K		No	ClinGen ExAC gnomAD
CA346883988 rs1415864245	875	M>V		No	ClinGen gnomAD
rs765628306 CA1660662	876	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs915238155 CA47501285	878	P>L		No	ClinGen TOPMed gnomAD
CA346885598 rs1248553406	878	P>T		No	ClinGen gnomAD
TCGA novel	882	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	884	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346885721 rs1200491301	893	S>N		No	ClinGen gnomAD
rs868191083 CA47501361	896	P>L		No	ClinGen Ensembl
rs1438585122 CA346885752	898	M>V		No	ClinGen gnomAD
rs1395115940 CA346885773	899	N>K		No	ClinGen TOPMed gnomAD
CA47501377 rs151156900	904	R>W		No	ClinGen ESP TOPMed gnomAD
CA346885925 rs1368435469	909	N>S		No	ClinGen TOPMed
CA1660684 COSM1327034 COSM1327033 rs759737447	913	R>C	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA346886015 rs1395463420	916	M>T		No	ClinGen gnomAD
rs770198725 CA1660685	916	M>V		No	ClinGen ExAC gnomAD
rs776124250 CA1660686	917	H>Y		No	ClinGen ExAC gnomAD
rs763382679 CA346886086	919	G>C		No	ClinGen ExAC TOPMed gnomAD
rs763382679 CA1660687	919	G>S		No	ClinGen ExAC TOPMed gnomAD
rs878968029 CA47501447	919	G>V		No	ClinGen Ensembl
rs1198265248 CA346886149	920	H>Q		No	ClinGen TOPMed
rs764453056 CA1660688	922	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1353945915 CA346886247	924	K>R		No	ClinGen gnomAD
rs774613691 CA1660689	925	E>K		No	ClinGen ExAC gnomAD
rs760275661 CA1660690	926	I>M		No	ClinGen ExAC gnomAD
CA346886342 rs1457033947	926	I>V		No	ClinGen gnomAD
CA1660691 rs766071037	928	A>V		No	ClinGen ExAC TOPMed gnomAD
CA346886523 rs1183110648	931	D>Y		No	ClinGen gnomAD
rs1167529017 CA346886727	935	T>I		No	ClinGen gnomAD
CA1660715 rs763987042	936	R>S		No	ClinGen ExAC gnomAD
CA346887030 rs1264138324	937	W>*		No	ClinGen gnomAD
rs1013565610 CA47502088	938	S>N		No	ClinGen TOPMed
rs751368672 CA1660716	938	S>R		No	ClinGen ExAC gnomAD
rs780124847 CA47502102	943	L>M		No	ClinGen Ensembl
TCGA novel	944	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746022423 CA1660719	954	A>S		No	ClinGen ExAC gnomAD
rs1436554129 CA346887530	954	A>V		No	ClinGen gnomAD
CA346887628 rs1236632622	958	Q>R		No	ClinGen TOPMed
rs367974296 CA1660722	965	N>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs769180098 CA1660723	965	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1197505197 CA346887858	967	T>S		No	ClinGen TOPMed
CA1660724 rs774909034	968	K>T		No	ClinGen ExAC gnomAD
rs772360793 CA1660726	976	K>T		No	ClinGen ExAC gnomAD
CA346888114 rs1353541961	978	I>V		No	ClinGen gnomAD
rs775040550 CA1660730	982	Q>H		No	ClinGen ExAC gnomAD
CA346888195 rs1486347371	982	Q>K		No	ClinGen gnomAD
rs879482109 CA47502182	982	Q>R		No	ClinGen Ensembl
rs762410367 CA1660731	985	G>S		No	ClinGen ExAC gnomAD
TCGA novel	987	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761846870 CA1660734	989	A>G		No	ClinGen ExAC gnomAD
COSM3702201 CA47502222 rs1027265350 COSM3702200	989	A>S	liver [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs750266689 CA1660736	991	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1396157869 CA346888338	992	M>T		No	ClinGen gnomAD
CA346888331 rs1291461717	992	M>V		No	ClinGen gnomAD
CA47502252 rs985663880	996	R>H		No	ClinGen TOPMed gnomAD
rs368891101 CA47502260	998	L>P		No	ClinGen ESP TOPMed
CA1660741 rs778973682	999	T>A		No	ClinGen ExAC gnomAD
CA346888429 rs1298779617	1000	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA346888481 rs1385625836	1003	R>Q		No	ClinGen TOPMed
rs1469939924 CA346888492	1004	D>N		No	ClinGen gnomAD
rs1164321301 CA346888505	1004	D>V		No	ClinGen TOPMed
TCGA novel	1005	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660745 rs747380176	1007	A>V		No	ClinGen ExAC gnomAD
CA1660748 rs762681320	1013	S>I		No	ClinGen ExAC gnomAD
rs868572527 CA47502297	1015	L>M		No	ClinGen Ensembl
CA346888734 rs1162360801	1017	K>E		No	ClinGen gnomAD
CA346888774 rs1419575702	1019	A>V		No	ClinGen gnomAD
CA346888804 rs774031282	1022	L>M		No	ClinGen ExAC gnomAD
rs761795530 CA1660751	1022	L>Q		No	ClinGen ExAC gnomAD
CA1660750 rs774031282	1022	L>V		No	ClinGen ExAC gnomAD
rs76907296 CA1660752	1023	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA47502328 rs529216143	1025	E>K		No	ClinGen Ensembl
CA346888855 rs1572713940	1026	H>P		No	ClinGen Ensembl
CA1660753 rs750203827	1027	P>S		No	ClinGen ExAC TOPMed gnomAD
rs545815578 CA1660757	1028	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545815578 CA1660755	1028	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs545815578 CA1660756	1028	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1361339840 CA346888889	1029	Q>E		No	ClinGen TOPMed
rs1337300040 CA346888898	1029	Q>R		No	ClinGen gnomAD
rs1294079848 CA346888910	1030	A>G		No	ClinGen TOPMed gnomAD
rs1294079848 CA346888911	1030	A>V		No	ClinGen TOPMed gnomAD
CA346888919 rs1234108702	1031	Q>P		No	ClinGen gnomAD
CA346889039 rs1222368263	1035	S>F		No	ClinGen TOPMed gnomAD
CA346889016 rs1305869462	1035	S>T		No	ClinGen gnomAD
rs139622861 CA1660760 RCV000997145	1036	R>Q		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA1660763 rs375724150	1039	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1660764 rs145586482	1041	S>G		No	ClinGen ESP ExAC gnomAD
CA1660765 rs748853463	1042	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1660766 rs768447926	1043	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA346889228 rs1355699525	1045	E>K		No	ClinGen gnomAD
CA1660767 rs773978444	1050	T>A		No	ClinGen ExAC gnomAD
rs376325588 CA1660769	1056	A>S		No	ClinGen ESP ExAC gnomAD
RCV001350716 rs1678711042	1058	L>V		No	ClinVar dbSNP
rs1216406125 CA346889512	1061	A>S		No	ClinGen TOPMed gnomAD
rs1410497559 CA346889522	1061	A>V		No	ClinGen TOPMed
rs943178007 CA47502472	1062	S>G		No	ClinGen TOPMed
TCGA novel	1069	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1069	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3380176 rs1378211994 CA346889754 COSM3380177	1073	D>N	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
rs879198834 CA47502495	1079	S>A		No	ClinGen TOPMed gnomAD
COSM1690591 COSM1690590 rs1192600666 CA346889901	1079	S>F	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA346889931 rs1240013688	1081	T>S		No	ClinGen gnomAD
CA346889967 rs377200533	1084	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA346889962 rs1260807411	1084	A>T		No	ClinGen TOPMed
CA1660775 rs377200533	1084	A>V	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs111447497 CA47502516	1087	S>P		No	ClinGen Ensembl
CA346890005 rs1217112362	1088	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA47502530 rs897144136	1090	M>L		No	ClinGen TOPMed
rs764648974 CA1660778	1091	P>L		No	ClinGen ExAC gnomAD
TCGA novel	1092	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs929213251 CA47502542	1094	L>P		No	ClinGen TOPMed gnomAD
rs1339145919 CA346890167	1095	T>I		No	ClinGen TOPMed
TCGA novel	1098	E>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs887107320 CA47502549	1099	K>R		No	ClinGen Ensembl
CA1660781 rs140653223	1102	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA1660783 rs754649325	1103	Q>K		No	ClinGen ExAC gnomAD
CA1660784 rs778776926	1103	Q>R		No	ClinGen ExAC gnomAD
rs771653211 CA47502587	1104	H>Q		No	ClinGen ExAC gnomAD
CA1660787 rs772780138	1106	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA346890461 rs1448424152	1112	D>A		No	ClinGen TOPMed gnomAD
TCGA novel	1112	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660791 rs776264412	1112	D>H		No	ClinGen ExAC TOPMed gnomAD
rs776264412 CA1660790	1112	D>N		No	ClinGen ExAC TOPMed gnomAD
rs965557015 CA47502610	1113	N>K		No	ClinGen TOPMed
CA1660792 rs765438423	1115	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs775747421 CA1660793	1116	E>D		No	ClinGen ExAC gnomAD
rs1421455463 CA346890527	1116	E>K		No	ClinGen TOPMed
CA47502636 rs200312638	1120	K>N		No	ClinGen 1000Genomes TOPMed
CA1660796 rs148270144	1126	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1319261122 CA346890933	1134	D>N		No	ClinGen gnomAD
rs1393954706 CA346890975	1135	A>V		No	ClinGen gnomAD
rs768111165 CA346891007	1136	Q>H		No	ClinGen ExAC gnomAD
rs750816196 CA1660799	1138	M>V		No	ClinGen ExAC gnomAD
rs756608024 CA346891162	1141	R>L		No	ClinGen ExAC gnomAD
CA1660800 rs756608024	1141	R>Q		No	ClinGen ExAC gnomAD
rs1371716918 CA346891158	1141	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1572714676 CA346891276	1145	Q>R		No	ClinGen Ensembl
rs374372060 CA47502671	1149	T>A		No	ClinGen ESP
CA1660805 rs534610237 CA346891406	1152	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770740262 CA1660806	1155	H>Q		No	ClinGen ExAC gnomAD
CA1660807 rs199589621	1156	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA346891485 rs1558448683	1156	K>R		No	ClinGen Ensembl
TCGA novel	1163	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1553346714 CA1660809	1164	L>P		No	ClinGen Ensembl
CA346891732 rs1417498335	1167	Q>E		No	ClinGen gnomAD
CA1660814 rs768973722	1171	Y>H		No	ClinGen ExAC gnomAD
CA346891864 rs1399637084	1173	Q>E		No	ClinGen TOPMed
rs1572714876 CA346891889	1174	F>S		No	ClinGen Ensembl
rs1390853177 CA346891930	1176	R>K		No	ClinGen gnomAD
CA47502774 rs878944023	1178	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs150398517 CA1660822	1182	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs777518479 CA1660823	1183	A>V		No	ClinGen ExAC gnomAD
CA346892234 rs1273309094	1188	Q>P		No	ClinGen gnomAD
CA346893387 rs1342149251	1189	E>G		No	ClinGen gnomAD
CA47503615 rs922595271	1191	V>I		No	ClinGen TOPMed gnomAD
rs780640494 CA1660844	1193	A>V		No	ClinGen ExAC gnomAD
TCGA novel	1194	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA47503616 rs149567677	1194	H>R		No	ClinGen ESP TOPMed gnomAD
CA346893438 rs749985565	1195	T>P		No	ClinGen ExAC gnomAD
rs1428139156 CA346893445	1195	T>S		No	ClinGen TOPMed gnomAD
rs749985565 CA1660845	1195	T>S		No	ClinGen ExAC gnomAD
rs756016655 CA1660846	1198	P>S		No	ClinGen ExAC TOPMed gnomAD
CA346893482 rs1374840298	1199	T>A		No	ClinGen TOPMed gnomAD
rs1475723396 CA346893487	1199	T>I		No	ClinGen gnomAD
rs1374840298 CA346893483	1199	T>P		No	ClinGen TOPMed gnomAD
rs1373936498 CA346893492	1200	T>S		No	ClinGen TOPMed
rs879216166 CA346893507	1201	L>F		No	ClinGen gnomAD
rs201202003 CA1660847	1203	G>V		No	ClinGen ExAC TOPMed gnomAD
CA1660849 rs754747920	1205	E>K		No	ClinGen ExAC gnomAD
rs778581377 CA1660850	1207	A>T		No	ClinGen ExAC gnomAD
CA1660851 rs373637029	1208	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773400101 CA1660853	1212	E>G		No	ClinGen ExAC gnomAD
CA346893637 rs1258264007	1215	M>V		No	ClinGen TOPMed
TCGA novel	1221	N>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660857 rs138208973	1221	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1393196439 CA346893756	1226	N>K		No	ClinGen gnomAD
rs147205482 CA1660860 COSM1581788 COSM1581787	1226	N>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA346893763 rs1451932444	1227	A>P		No	ClinGen gnomAD
rs1034892391 CA47503710	1228	V>M		No	ClinGen Ensembl
rs1298866969 CA346893785	1229	V>A		No	ClinGen gnomAD
CA1660863 rs755681149	1233	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749932412 CA1660862	1233	R>W		No	ClinGen ExAC TOPMed gnomAD
rs765890801 CA1660864	1234	R>S		No	ClinGen ExAC TOPMed gnomAD
CA346893861 rs1572717258	1236	V>G		No	ClinGen Ensembl
rs1558450133 CA346893856	1236	V>M		No	ClinGen Ensembl
rs753745173 CA346894103	1238	D>H		No	ClinGen ExAC TOPMed gnomAD
CA1660866 rs753745173	1238	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1660865 rs753745173	1238	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA47503729 rs1012166130	1239	G>E		No	ClinGen gnomAD
rs1012166130 CA346894130	1239	G>V		No	ClinGen gnomAD
TCGA novel	1241	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA47503734 rs529141161	1241	I>V		No	ClinGen TOPMed
CA346894166 rs1323305935	1242	N>H		No	ClinGen gnomAD
rs747938175 CA1660868	1243	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1237112759 CA346894225	1246	I>F		No	ClinGen gnomAD
rs1237112759 CA346894224	1246	I>V		No	ClinGen gnomAD
rs570799310 CA1660869	1248	E>V		No	ClinGen 1000Genomes ExAC gnomAD
rs747069871 CA1660871	1249	K>R		No	ClinGen ExAC gnomAD
rs1313085180 CA346894265	1251	D>E		No	ClinGen TOPMed gnomAD
CA346894274 rs1262724860	1253	I>F		No	ClinGen TOPMed gnomAD
CA1660872 rs771074610	1253	I>T		No	ClinGen ExAC gnomAD
RCV001347845 rs1262724860 CA346894273	1253	I>V		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1660874 rs746344868	1255	D>E		No	ClinGen ExAC gnomAD
CA1660873 rs367810526	1255	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1214372070 CA346895426	1257	H>Q		No	ClinGen TOPMed
rs1046870401 CA47511376	1257	H>R		No	ClinGen TOPMed gnomAD
rs1349779032 CA346895430	1258	R>K		No	ClinGen TOPMed
CA1660902 rs759038113	1258	R>S		No	ClinGen ExAC gnomAD
CA1660903 rs765210317	1261	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs879170777 CA47511388	1261	R>H		No	ClinGen TOPMed gnomAD
rs765210317 CA346895450	1261	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1275214527 CA346895467	1263	T>I		No	ClinGen gnomAD
CA346895462 rs1572727115	1263	T>P		No	ClinGen Ensembl
rs1310128998 CA346895479	1265	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1310128998 CA346895477	1265	S>N		No	ClinGen TOPMed
CA346895488 rs1485234610	1266	E>D		No	ClinGen gnomAD
TCGA novel	1267	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA47511389 rs142133585	1267	L>V		No	ClinGen ESP
CA346895495 rs139007488	1268	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs139007488 CA346895496	1268	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA346895507 rs1472917170	1269	M>I		No	ClinGen gnomAD
CA1660905 rs762990873	1269	M>L		No	ClinGen ExAC gnomAD
rs1416742965 CA346895528	1272	K>R		No	ClinGen gnomAD
rs777860628 CA1660908	1272	K>RK*		No	ClinGen ExAC
rs1429735375 CA532762980	1273	D>E		No	ClinGen gnomAD
rs1371653087 CA532762981	1274	N>TL*		No	ClinGen gnomAD
CA47511432 rs989043185	1275	R>G		No	ClinGen Ensembl
rs757531293 CA1660910	1280	F>L		No	ClinGen ExAC gnomAD
CA346895586 rs1377565767	1280	F>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766317201 CA1660932	1288	S>C		No	ClinGen ExAC TOPMed gnomAD
CA346896778 rs1251810869	1291	I>N		No	ClinGen TOPMed gnomAD
rs371412282 CA1660934	1292	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA346896847 rs1248910581	1296	L>F		No	ClinGen gnomAD
CA1660935 rs779468048	1297	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1158286493 CA346896898	1300	D>G		No	ClinGen gnomAD
RCV001352631 rs1679682083	1303	Y>*		No	ClinVar dbSNP
rs1160057343 CA346897012	1308	N>D		No	ClinGen gnomAD
rs1393785368 CA346897020	1308	N>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	1317	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA47517451 rs903362485	1324	A>G		No	ClinGen TOPMed gnomAD
rs951883224 CA346897254	1324	A>S		No	ClinGen gnomAD
rs951883224 CA47517443	1324	A>T		No	ClinGen gnomAD
CA346897256 rs903362485	1324	A>V		No	ClinGen TOPMed gnomAD
TCGA novel	1327	K>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs554898539 CA1660945	1327	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs144815582 CA1660947	1331	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346897358 rs1572738853	1333	I>N		No	ClinGen Ensembl
CA346897353 rs1398031190	1333	I>V		No	ClinGen TOPMed
CA47517495 rs201363287	1334	E>G		No	ClinGen Ensembl
CA1660950 rs151290572	1334	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151290572 CA1660951	1334	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346897389 rs1305190637	1335	K>T		No	ClinGen gnomAD
rs1430170106 CA346898812	1338	M>I		No	ClinGen gnomAD
rs1372265814 CA346898807	1338	M>V		No	ClinGen gnomAD
rs1373298885 CA346898821	1339	Q>H		No	ClinGen gnomAD
CA346898820 rs1312041906	1339	Q>L		No	ClinGen gnomAD
CA346898873 rs1325378356	1347	T>A		No	ClinGen gnomAD
rs201961584 CA1660969	1347	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA47519048 rs878872318	1349	A>G		No	ClinGen TOPMed gnomAD
CA1660971 rs763347917	1349	A>P		No	ClinGen ExAC gnomAD
CA47519064 rs1031957432	1352	K>Q		No	ClinGen TOPMed
rs1408268853 CA346898911	1353	E>V		No	ClinGen gnomAD
TCGA novel	1354	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1572741652 CA346898933 COSM1726817 COSM1726816	1355	L>V	liver [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1484839449 CA346898957	1356	T>I		No	ClinGen TOPMed gnomAD
rs781693116 CA47519082	1357	G>A		No	ClinGen ExAC TOPMed gnomAD
rs781693116 CA1660975	1357	G>D		No	ClinGen ExAC TOPMed gnomAD
CA1660974 rs757637838	1357	G>S		No	ClinGen ExAC gnomAD
rs972316444 CA47519096	1358	L>F		No	ClinGen Ensembl
CA346899000 rs1489721823	1359	H>Q		No	ClinGen TOPMed
rs540781754 CA1660977	1360	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346899034 rs1222656390	1361	M>I		No	ClinGen TOPMed
CA346899055 rs1366705170	1362	W>C		No	ClinGen TOPMed gnomAD
rs370236010 CA1660978	1363	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA1660979 rs747730085	1364	V>F		No	ClinGen ExAC TOPMed gnomAD
CA346899078 rs747730085	1364	V>I		No	ClinGen ExAC TOPMed gnomAD
CA47519117 rs980299626	1366	E>G		No	ClinGen TOPMed
CA346899139 rs1403420546	1368	T>S		No	ClinGen TOPMed
CA346899181 rs1303087838	1370	Q>H		No	ClinGen gnomAD
CA47519120 rs879065340	1370	Q>R		No	ClinGen Ensembl
CA346899186 rs1345132832	1371	T>A		No	ClinGen TOPMed
CA346899192 rs1383719840	1371	T>I		No	ClinGen gnomAD
rs1380096093 CA346899228	1373	A>S		No	ClinGen gnomAD
CA346899268 rs1368034043	1374	Q>R		No	ClinGen gnomAD
rs770649665 CA1660983 COSM1227480 COSM1227481	1375	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	1380	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1382	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1350220504 CA346899488	1386	T>A		No	ClinGen gnomAD
TCGA novel	1387	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA47519204 rs1035906781	1388	S>C		No	ClinGen TOPMed
rs763159763 CA1660988	1389	C>F		No	ClinGen ExAC gnomAD
rs752038045 CA1660990	1393	D>G		No	ClinGen ExAC gnomAD
rs1192964548 CA346899622	1393	D>N		No	ClinGen gnomAD
rs767943115 CA1660992	1396	L>R		No	ClinGen ExAC gnomAD
rs1161034632 CA346899708	1396	L>V		No	ClinGen TOPMed
CA47519263 rs879039383	1397	H>R		No	ClinGen Ensembl
CA346899736 rs754643448	1398	G>C		No	ClinGen ExAC TOPMed gnomAD
CA47519273 rs937722745	1398	G>D		No	ClinGen gnomAD
CA346899743 rs937722745	1398	G>V		No	ClinGen gnomAD
CA346899778 rs778690354	1401	S>C		No	ClinGen ExAC TOPMed gnomAD
rs778690354 CA1660995	1401	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1460425586 CA346899821	1403	I>F		No	ClinGen gnomAD
TCGA novel	1403	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1660996 rs749980427	1404	Q>K		No	ClinGen ExAC gnomAD
CA346899895 rs1431941017	1407	D>E		No	ClinGen gnomAD
rs757871617 CA1660997	1407	D>G		No	ClinGen ExAC TOPMed gnomAD
CA346899892 rs757871617	1407	D>V		No	ClinGen ExAC TOPMed gnomAD
CA346899905 rs1388952970	1408	Y>C		No	ClinGen gnomAD
rs777156545 CA1660998	1410	K>R		No	ClinGen ExAC gnomAD
rs1052790 VAR_032641	1411	D>H		No	UniProt dbSNP
CA346899979 rs1572742181	1413	T>P		No	ClinGen Ensembl
rs770880723 CA1661000	1416	N>S		No	ClinGen ExAC TOPMed gnomAD
CA346900333 rs542395080 CA1661025	1424	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1228908317 CA346900322	1424	M>L		No	ClinGen gnomAD
rs1228908317 CA346900320	1424	M>V		No	ClinGen gnomAD
CA1661026 rs772689615	1425	L>Q		No	ClinGen ExAC gnomAD
CA47520199 rs906670166	1429	M>T		No	ClinGen Ensembl
rs1310084086 CA346900461	1432	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs878981910 CA47520206	1432	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1365018457 CA346900544	1437	E>K		No	ClinGen TOPMed
rs1385890976 CA346900572	1438	E>A		No	ClinGen gnomAD
rs1185362345 CA346900600	1440	Q>E		No	ClinGen gnomAD
rs376470847 CA1661030	1444	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA47520287 rs768045099	1444	Q>H		No	ClinGen Ensembl
rs878908038 CA47520361	1447	S>G		No	ClinGen TOPMed gnomAD
rs376764789 CA1661032	1447	S>N		No	ClinGen ExAC gnomAD
CA346900765 rs1174244074	1450	G>W		No	ClinGen gnomAD
rs767028449 CA1661035	1452	S>G		No	ClinGen ExAC TOPMed gnomAD
rs1363000891 CA346900812	1452	S>I		No	ClinGen TOPMed gnomAD
CA346900807 rs1363000891	1452	S>N		No	ClinGen TOPMed gnomAD
rs879109386 CA47520388	1453	T>A		No	ClinGen Ensembl
rs756028022 CA1661037	1454	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1280301759 CA346900878	1456	V>A		No	ClinGen gnomAD
CA1661039 rs749076484	1456	V>L		No	ClinGen ExAC gnomAD
CA346900937 rs1489760485	1459	K>R		No	ClinGen TOPMed
rs1259472250 CA346900956	1460	R>C		No	ClinGen TOPMed
CA47520414 rs985238136	1460	R>H		No	ClinGen TOPMed gnomAD
rs1572743871 CA346900968	1461	L>V		No	ClinGen Ensembl
rs201812651 COSM1021696 CA1661044 COSM1021697	1463	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA346901016 rs1189838626	1464	Q>R		No	ClinGen gnomAD
rs1427602033 CA346901028	1465	T>A		No	ClinGen gnomAD
rs1427602033 CA346901030	1465	T>S		No	ClinGen gnomAD
TCGA novel	1466	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1415231834 CA346901070	1467	F>C		No	ClinGen gnomAD
CA346901086 rs1458840181	1468	M>K		No	ClinGen gnomAD
CA346901081 rs1386578342	1468	M>L		No	ClinGen gnomAD
CA346901083 rs1386578342	1468	M>V		No	ClinGen gnomAD
rs771394234 CA1661046	1469	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1321155325 CA346901102	1469	E>Q		No	ClinGen gnomAD
rs542795935 CA346901161	1472	E>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1010532020 CA47520485	1475	N>K		No	ClinGen TOPMed
CA47520494 rs966501099	1476	E>G		No	ClinGen gnomAD
CA47520492 rs1022346238	1476	E>K		No	ClinGen TOPMed gnomAD
CA47520502 rs947344341	1478	K>R		No	ClinGen TOPMed gnomAD
rs1208739524 CA346901273	1479	H>Y		No	ClinGen gnomAD
rs761483604 CA1661051	1485	K>R		No	ClinGen ExAC TOPMed gnomAD
rs978546025 CA47520540	1487	I>V		No	ClinGen TOPMed
rs1452833528 CA346901421	1488	H>R		No	ClinGen TOPMed
TCGA novel	1496	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1338212983 CA346901716	1499	L>M		No	ClinGen gnomAD
rs758665423 CA1661079	1504	R>K		No	ClinGen ExAC gnomAD
rs778208703 CA1661080	1505	M>V		No	ClinGen ExAC gnomAD
CA1661081 rs751648111	1506	P>A		No	ClinGen ExAC TOPMed gnomAD
CA47521253 rs868513069	1510	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA1661083 rs781338227	1511	T>A		No	ClinGen ExAC gnomAD
COSM1408565 CA1661084 rs746665381 COSM1408564	1511	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs780364750 CA1661086	1513	H>Y		No	ClinGen ExAC gnomAD
TCGA novel	1514	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1238041705 CA346901980	1515	H>D		No	ClinGen gnomAD
CA346902004 rs1572745395	1516	N>T		No	ClinGen Ensembl
rs1391812583 CA346902058	1519	T>S		No	ClinGen gnomAD
CA346902091 rs150847308	1521	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA47521305 rs770214501	1521	Q>R		No	ClinGen Ensembl
CA346902127 rs1429177630	1524	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA1661091 rs770304744	1526	K>E		No	ClinGen ExAC gnomAD
CA346902215 CA1661093 rs759526094	1528	Q>H		No	ClinGen ExAC gnomAD
CA47521326 rs917115272	1528	Q>R		No	ClinGen TOPMed
CA346902941 rs1572745870	1529	T>P		No	ClinGen Ensembl
CA47521581 rs749812168	1530	L>F		No	ClinGen Ensembl
TCGA novel	1533	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1391537230 CA346903056	1536	G>R		No	ClinGen gnomAD
rs1388827527 CA346903085	1540	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM1021698 rs1284166106 CA346903088 COSM1021699	1540	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs748217718 CA1661126	1541	I>N		No	ClinGen ExAC TOPMed gnomAD
rs748217718 CA1661127	1541	I>T		No	ClinGen ExAC TOPMed gnomAD
rs753148110 CA1661125	1541	I>V		No	ClinGen ExAC gnomAD
CA1661128 rs745529688	1542	D>H		No	ClinGen ExAC TOPMed gnomAD
rs779743351 CA1661130	1543	D>N		No	ClinGen ExAC gnomAD
rs758383775 CA47521698	1547	R>S		No	ClinGen TOPMed
CA346903143 rs1489344053	1548	S>R		No	ClinGen gnomAD
CA1661132 rs768677480	1549	Q>R		No	ClinGen ExAC gnomAD
rs1014202719 CA47521729	1551	I>T		No	ClinGen TOPMed gnomAD
CA1661135 rs551497805	1552	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs773352587 CA1661136	1553	T>S		No	ClinGen ExAC gnomAD
rs1422684321 CA346903201	1557	S>G		No	ClinGen gnomAD
CA1661137 rs760913468	1557	S>N		No	ClinGen ExAC TOPMed gnomAD
CA1661139 rs200797929	1559	S>I		No	ClinGen ExAC TOPMed gnomAD
CA1661141 rs571303667	1560	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1661142 rs571303667	1560	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1562	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1564	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346903256 rs1374175939	1565	Q>R		No	ClinGen gnomAD
CA1661145 rs750058189	1569	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1661146 rs201352146	1570	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs779677925 CA1661147	1571	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1025440910 CA47521916	1574	W>G		No	ClinGen gnomAD
rs748036157 CA1661151	1576	L>V		No	ClinGen ExAC gnomAD
TCGA novel	1577	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1661152 rs771856662	1578	I>F		No	ClinGen ExAC TOPMed gnomAD
CA1661153 rs773010712	1578	I>M		No	ClinGen ExAC
CA47521962 rs879115004	1578	I>T		No	ClinGen gnomAD
rs771856662 CA346903337	1578	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1661154 rs760862012	1580	E>G		No	ClinGen ExAC gnomAD
CA346903348 rs1302015876	1580	E>K		No	ClinGen TOPMed
CA1661155 rs771185514	1583	K>E		No	ClinGen ExAC gnomAD
rs759724010 COSM1645022 CA1661157 COSM1645023	1584	R>C	salivary_gland [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1387314544 CA346903378	1584	R>H		No	ClinGen TOPMed
CA1661158 rs765248851	1585	H>R		No	ClinGen ExAC gnomAD
rs374474265 CA1661159	1587	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374474265 CA1661160	1587	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346903396 rs1355333012	1587	R>W		No	ClinGen TOPMed gnomAD
rs1572746422 CA346903401	1588	L>P		No	ClinGen Ensembl
CA346903406 rs1572746465	1589	E>G		No	ClinGen Ensembl
CA1661162 rs752020828	1589	E>K		No	ClinGen ExAC gnomAD
rs1572746479 CA346903414	1590	E>G		No	ClinGen Ensembl
CA346903421 rs1362791871	1591	A>G		No	ClinGen gnomAD
rs755823516 CA1661163	1591	A>T		No	ClinGen ExAC TOPMed gnomAD
CA346903422 rs1362791871	1591	A>V		No	ClinGen gnomAD
rs1273349450 CA346903430	1592	H>Q		No	ClinGen gnomAD
CA1661165 rs375275938	1593	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA346903442 rs1198869518	1594	A>V		No	ClinGen TOPMed
rs1175300049 CA346903457	1596	Q>H		No	ClinGen gnomAD
CA1661167 rs778313944	1598	Y>S		No	ClinGen ExAC gnomAD
CA346903490 rs1247888043	1601	A>T		No	ClinGen gnomAD
rs376950929 CA47522041	1602	A>V		No	ClinGen Ensembl
rs1448120578 CA346903512	1604	A>D		No	ClinGen gnomAD
CA1661170 rs746896556	1605	E>K		No	ClinGen ExAC TOPMed gnomAD
rs770660809 CA47522077	1606	A>V		No	ClinGen gnomAD
rs746876587 CA1661171	1610	E>K		No	ClinGen ExAC gnomAD
TCGA novel	1611	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1256671701 CA346903594	1615	M>T		No	ClinGen TOPMed
CA1661173 rs776779399	1617	S>L		No	ClinGen ExAC gnomAD
rs769878216 CA1661175	1621	A>T		No	ClinGen ExAC TOPMed gnomAD
rs768868663 CA1661195	1623	D>N		No	ClinGen ExAC gnomAD
CA47522762 rs894290925	1623	D>V		No	ClinGen Ensembl
rs1298658319 CA346903945	1626	S>N		No	ClinGen TOPMed
CA1661197 rs762439894	1628	V>G		No	ClinGen ExAC gnomAD
CA1661199 rs368655244	1630	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1635	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346904204 rs1305745512	1637	L>S		No	ClinGen gnomAD
CA346904245 rs1337034408	1639	Q>P		No	ClinGen gnomAD
rs1442220029 CA346904264	1640	A>G		No	ClinGen gnomAD
CA346904279 rs1200824537	1641	V>M		No	ClinGen gnomAD
rs764862001 CA1661202	1642	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA346904345 rs1419557052	1645	A>T		No	ClinGen TOPMed
CA346904376 rs1471962778	1646	E>D		No	ClinGen TOPMed
rs763602996 CA1661204	1647	T>A		No	ClinGen ExAC gnomAD
rs763602996 CA346904379	1647	T>P		No	ClinGen ExAC gnomAD
rs757209902 CA1661206	1648	V>L		No	ClinGen ExAC TOPMed gnomAD
CA346904410 rs757209902	1648	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1649	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1661207 rs781020163	1652	S>C		No	ClinGen ExAC gnomAD
rs1439635388 CA346904522	1653	K>E		No	ClinGen gnomAD
rs1439635388 CA346904518	1653	K>Q		No	ClinGen gnomAD
rs756344811 CA1661209	1653	K>R		No	ClinGen ExAC gnomAD
rs780080283 CA346904544	1654	T>A		No	ClinGen ExAC TOPMed gnomAD
CA346904542 rs780080283	1654	T>P		No	ClinGen ExAC TOPMed gnomAD
CA1661210 rs780080283	1654	T>S		No	ClinGen ExAC TOPMed gnomAD
CA1661211 rs749525531	1655	S>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1655	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1532053 CA1661213 COSM1532052 rs779152792	1656	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs768815629 CA1661212	1656	R>W		No	ClinGen ExAC gnomAD
rs1398186048 CA346904580	1657	A>T		No	ClinGen gnomAD
CA346904589 rs1031381103	1658	L>M		No	ClinGen TOPMed
rs1031381103 CA47522936	1658	L>V		No	ClinGen TOPMed
rs976104744 CA47522939	1659	V>G		No	ClinGen TOPMed gnomAD
rs772742970 CA346904623	1661	D>H		No	ClinGen ExAC TOPMed gnomAD
rs772742970 CA1661215	1661	D>N		No	ClinGen ExAC TOPMed gnomAD
rs772742970 CA346904625	1661	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA1661216 rs200274009	1662	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1317715235 CA346904667	1664	P>A		No	ClinGen gnomAD
CA1661217 rs761006155	1664	P>R		No	ClinGen ExAC gnomAD
CA1661245 rs760684638	1668	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA47524859 rs766061615	1668	R>H		No	ClinGen ExAC TOPMed gnomAD
CA1661246 rs766061615	1668	R>L		No	ClinGen ExAC TOPMed gnomAD
rs753722190 CA1661247	1669	I>V		No	ClinGen ExAC TOPMed gnomAD
CA346906189 rs1271767050	1670	S>G		No	ClinGen Ensembl
rs952069934 CA47524879	1672	R>Q		No	ClinGen Ensembl
rs755243358 CA1661248	1672	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1661249 rs765610874	1674	S>A		No	ClinGen ExAC gnomAD
CA346906268 rs1353646525	1674	S>Y		No	ClinGen TOPMed
rs752983650 CA1661250	1675	K>Q		No	ClinGen ExAC gnomAD
CA346906301 rs1572751629	1677	D>N		No	ClinGen Ensembl
TCGA novel	1681	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1691	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757832733 CA1661254	1691	R>S		No	ClinGen ExAC gnomAD
CA1661255 rs781506555	1692	G>D		No	ClinGen ExAC gnomAD
CA346906418 rs1429972697	1694	L>P		No	ClinGen TOPMed gnomAD
CA1661257 rs779959644	1695	D>G		No	ClinGen ExAC gnomAD
rs746300136 CA1661256	1695	D>N		No	ClinGen ExAC gnomAD
rs773924866 CA1661258	1696	E>D		No	ClinGen ExAC gnomAD
CA346906426 rs1416583470	1696	E>K		No	ClinGen TOPMed
CA1661261 rs771433368	1698	H>D		No	ClinGen ExAC gnomAD
CA1661262 rs142254768	1698	H>R		No	ClinGen ESP ExAC gnomAD
CA1661260 rs771433368	1698	H>Y		No	ClinGen ExAC gnomAD
rs759344159 CA1661265	1704	N>K		No	ClinGen ExAC TOPMed gnomAD
CA1661267 rs752930570	1705	R>Q		No	ClinGen ExAC gnomAD
rs1572751829 CA346906505	1707	V>G		No	ClinGen Ensembl
CA346906502 rs1317433290	1707	V>L		No	ClinGen gnomAD
rs764062758 CA1661270 CA47525080	1708	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1222786663 CA346906517	1709	D>E		No	ClinGen gnomAD
rs757703746 CA1661271	1709	D>N		No	ClinGen ExAC TOPMed gnomAD
CA1661272 rs781709393	1711	E>K		No	ClinGen ExAC TOPMed gnomAD
rs756427713 CA1661274	1713	W>C		No	ClinGen ExAC TOPMed gnomAD
rs747729165 CA1661276	1715	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1715	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1572751929 CA346906593	1719	V>G		No	ClinGen Ensembl
rs1309654382 CA346906594	1720	V>I		No	ClinGen TOPMed
CA1661278 rs772592991	1721	A>S		No	ClinGen ExAC gnomAD
TCGA novel	1721	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1722	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746585947 CA346906612	1723	S>A		No	ClinGen ExAC gnomAD
rs746585947 CA1661279	1723	S>P		No	ClinGen ExAC gnomAD
rs1324711377 CA346906632	1726	L>M		No	ClinGen TOPMed
rs1324711377 CA346906633	1726	L>V		No	ClinGen TOPMed
rs1299946738 CA346906725	1733	V>A		No	ClinGen gnomAD
CA346906733 rs1395407549	1734	T>A		No	ClinGen gnomAD
rs759579062 CA1661282	1734	T>M		No	ClinGen ExAC TOPMed gnomAD
rs762041718 CA1661305	1735	M>V		No	ClinGen ExAC gnomAD
RCV001264660 CA47525765 COSM1668932 COSM1668931 rs531979350	1739	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes dbSNP
rs761166602 CA1661308	1741	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs750537630 CA1661307	1741	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA47525794 rs371408072	1744	A>T		No	ClinGen ESP TOPMed
CA346907098 rs1174335078	1745	R>G		No	ClinGen gnomAD
CA1661309 rs766967876	1745	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1661310 rs373574785	1747	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs150351061 CA1661313	1748	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA47525834 rs982880440	1749	N>S		No	ClinGen TOPMed
CA1661316 rs149492547	1750	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs878874672 CA47525840	1753	E>Q		No	ClinGen Ensembl
CA47525841 rs879201285	1754	R>S		No	ClinGen Ensembl
rs779986830 CA1661318	1755	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1325588578 CA346907338	1756	D>H		No	ClinGen TOPMed
COSM1241779 rs1284612527 CA346907380 COSM1241780	1757	T>M	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA1661320 rs768446524	1758	V>F		No	ClinGen ExAC gnomAD
CA1661321 rs774060702	1759	N>S		No	ClinGen ExAC gnomAD
rs1315573703 CA346907437	1760	H>Y		No	ClinGen TOPMed gnomAD
rs772344139 CA1661323	1761	L>R		No	ClinGen ExAC gnomAD
rs748335877 CA1661322	1761	L>V		No	ClinGen ExAC gnomAD
CA346907461 rs1197484710	1762	A>E		No	ClinGen gnomAD
CA346907477 rs1189125951	1763	D>V		No	ClinGen TOPMed
rs760689729 CA1661325	1763	D>Y		No	ClinGen ExAC gnomAD
rs1480769541 CA346907485	1764	E>Q		No	ClinGen gnomAD
CA47525882 rs559572006	1768	S>C		No	ClinGen 1000Genomes TOPMed
TCGA novel	1769	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346907600 rs1572753200	1773	A>S		No	ClinGen Ensembl
CA346907615 rs1405703140	1774	A>T		No	ClinGen gnomAD
CA1661327 rs777153620	1774	A>V		No	ClinGen ExAC gnomAD
CA47525909 rs774354914	1776	I>T		No	ClinGen Ensembl
CA1661328 rs370016840	1776	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs528705437 CA1661329	1777	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1661331 rs756965888	1781	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1278572756 CA346907713	1782	G>S		No	ClinGen TOPMed
CA1661334 rs373840795	1784	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1661332 rs373840795	1784	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs373840795 CA1661333	1784	N>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA47525951 rs761966673	1786	A>S		No	ClinGen Ensembl
rs957647482 CA47525965	1787	W>L		No	ClinGen Ensembl
CA346907791 rs1428711636	1788	A>D		No	ClinGen TOPMed
CA1661335 rs779449551	1788	A>P		No	ClinGen ExAC TOPMed gnomAD
CA1661336 rs749223329	1789	D>N		No	ClinGen ExAC
rs778760121 CA1661338	1790	L>H		No	ClinGen ExAC TOPMed gnomAD
rs754908499 CA1661337	1790	L>V		No	ClinGen ExAC TOPMed gnomAD
CA346907819 rs771866202	1791	L>V		No	ClinGen ExAC gnomAD
CA1661342 rs200631796	1794	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1181161162 CA346907873	1795	D>H		No	ClinGen TOPMed gnomAD
rs1181161162 CA346907874	1795	D>Y		No	ClinGen TOPMed gnomAD
CA1661343 rs770996210	1796	T>A		No	ClinGen ExAC gnomAD
rs946395215 CA47526014	1798	T>K		No	ClinGen TOPMed
rs776624596 CA1661344	1802	A>V		No	ClinGen ExAC gnomAD
rs372319582 CA1661346	1803	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA1661347 rs775988208	1805	Y>N		No	ClinGen ExAC TOPMed gnomAD
CA346908012 rs1165155785	1806	E>G		No	ClinGen gnomAD
CA1661348 rs763356193	1809	K>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1811	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750058318 CA1661350	1812	H>Y		No	ClinGen ExAC
COSM1021708 CA1661352 rs765879123 COSM1021709	1813	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA346908212 rs1310554691	1815	K>N		No	ClinGen TOPMed gnomAD
rs1572753559 CA346908230	1816	E>D		No	ClinGen Ensembl
TCGA novel	1816	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA47526160 rs878890988	1817	I>S		No	ClinGen TOPMed gnomAD
CA346908276 rs1244235343	1819	G>R		No	ClinGen gnomAD
COSM1408572 rs778764930 CA346908291 COSM1408571	1820	R>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA346908299 rs1317405298	1820	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs778764930 CA1661355	1820	R>S		No	ClinGen ExAC TOPMed gnomAD
rs748082381 CA1661356	1821	I>V		No	ClinGen ExAC gnomAD
rs146380966 CA1661357	1822	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1439587545 CA346908364	1823	D>G		No	ClinGen gnomAD
rs777564461 CA1661358	1825	H>P		No	ClinGen ExAC
CA47526192 rs766329728	1825	H>Y		No	ClinGen gnomAD
rs747211538 CA1661359	1826	K>N		No	ClinGen ExAC gnomAD
CA346908436 rs1442607242	1826	K>R		No	ClinGen gnomAD
CA1661360 rs148585973	1827	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA346908473 rs1474893863	1828	L>F		No	ClinGen gnomAD
CA346908554 rs1165741462	1831	E>D		No	ClinGen TOPMed gnomAD
CA346908569 rs1409970473	1832	L>H		No	ClinGen gnomAD
CA346908564 rs1409970473	1832	L>R		No	ClinGen gnomAD
rs781328415 CA1661361	1832	L>V		No	ClinGen ExAC TOPMed gnomAD
CA1661362 rs745994041	1834	R>T		No	ClinGen ExAC gnomAD
CA1661363 rs769933603	1835	D>N		No	ClinGen ExAC gnomAD
CA47526279 rs879118276	1838	T>K		No	ClinGen Ensembl
rs1463691838 CA346908750	1841	T>S		No	ClinGen TOPMed
rs188468007 CA1661365	1843	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1479128901 CA346908848	1846	H>Y		No	ClinGen TOPMed
rs769095553 CA1661366	1847	T>S		No	ClinGen ExAC TOPMed gnomAD
CA346908910 rs1181731851	1849	F>S		No	ClinGen TOPMed
TCGA novel	1850	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1661368 rs760367861	1851	H>Y		No	ClinGen ExAC gnomAD
rs1017039924 CA47526316	1853	I>T		No	ClinGen TOPMed
CA1661369 rs151100181	1853	I>V		No	ClinGen ESP ExAC TOPMed
rs753540814 CA1661370	1854	Q>H		No	ClinGen ExAC gnomAD
rs372519284 CA1661371	1855	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA346908966 rs1457463233	1856	L>V		No	ClinGen TOPMed
CA346908977 rs1190579300	1858	T>A		No	ClinGen gnomAD
rs1237421079 CA346908981	1858	T>I		No	ClinGen gnomAD
rs750565374 CA1661397	1860	V>L		No	ClinGen ExAC gnomAD
rs1289055142 CA346852847	1861	R>T		No	ClinGen gnomAD
CA1661399 rs780273253	1865	E>V		No	ClinGen ExAC gnomAD
rs1419034338 CA346852883	1866	D>G		No	ClinGen gnomAD
CA1661401 rs572348285	1869	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA1661402 rs779220012	1869	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs748720017 CA346852920	1872	A>E		No	ClinGen ExAC TOPMed gnomAD
rs748720017 CA1661403	1872	A>V		No	ClinGen ExAC TOPMed gnomAD
CA346852933 rs1294160356	1874	Y>F		No	ClinGen gnomAD
CA346852929 rs1455574832	1874	Y>H		No	ClinGen TOPMed
TCGA novel	1875	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1395818968 COSM1494968 COSM1494967 CA346852940	1875	A>V	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
COSM1408575 rs375121259 COSM1408576 CA1661408	1880	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs1022776198 CA47485579	1881	D>E		No	ClinGen Ensembl
RCV001269402 rs1465609582	1881	D>N		No	ClinVar dbSNP
CA346852979 rs1465609582	1881	D>Y		No	ClinGen gnomAD
CA1661410 rs763602967	1883	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA346852996 rs1312539477	1883	Q>L		No	ClinGen gnomAD
CA346852995 rs1312539477	1883	Q>R		No	ClinGen gnomAD
CA1661411 rs774120063	1884	K>E		No	ClinGen ExAC gnomAD
rs573784455 CA1661412	1885	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767197512 CA1661413	1885	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs756389249 CA1661415	1886	E>K		No	ClinGen ExAC TOPMed gnomAD
rs766647539 CA1661416	1888	E>K		No	ClinGen ExAC TOPMed gnomAD
rs562656789 CA1661417	1889	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA1661420 rs748579751	1893	W>C		No	ClinGen ExAC TOPMed gnomAD
rs779072606 CA1661419	1893	W>S		No	ClinGen ExAC TOPMed gnomAD
rs1346571968 CA346853183	1894	K>N		No	ClinGen gnomAD
rs371604423 CA1661421	1895	S>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs371604423 CA1661422	1895	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1898	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775058180 CA1661425	1899	A>T		No	ClinGen ExAC TOPMed gnomAD
CA1661428 rs773963260	1901	E>D		No	ClinGen ExAC gnomAD
rs768007268 CA1661427	1901	E>G		No	ClinGen ExAC gnomAD
rs1387826377 CA346853314	1903	R>C		No	ClinGen TOPMed
CA47485650 rs781433605	1903	R>H		No	ClinGen Ensembl
rs1294325503 CA346853351	1905	V>A		No	ClinGen gnomAD
rs1294325503 CA346853353	1905	V>G		No	ClinGen gnomAD
TCGA novel	1906	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373326337 CA1661430	1906	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA47485651 rs369864050	1906	R>W		No	ClinGen ESP TOPMed gnomAD
rs75544206 CA1661431	1908	V>G		No	ClinGen ExAC gnomAD
rs148915438 CA47485654	1908	V>M		No	ClinGen ESP TOPMed gnomAD
rs760476696 CA1661432	1909	D>G		No	ClinGen ExAC gnomAD
rs1261290049 CA346853417	1910	T>A		No	ClinGen TOPMed gnomAD
CA1661436 rs551497836	1911	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs955535489 CA47485666	1912	D>G		No	ClinGen gnomAD
CA346853449 rs1408033692	1913	K>E		No	ClinGen gnomAD
rs765199393 CA1661437	1914	F>L		No	ClinGen ExAC gnomAD
CA346853475 rs1249211600	1914	F>S		No	ClinGen TOPMed
COSM221948 CA346853487 COSM1690592 rs1287979528	1915	R>C	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1359396975 COSM1021713 COSM1021712 CA346853491	1915	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1383452806 CA346853508	1916	F>C		No	ClinGen gnomAD
rs1383452806 CA346853506	1916	F>S		No	ClinGen gnomAD
rs1278315375 CA346853537	1918	S>C		No	ClinGen gnomAD
CA346853557 rs1255766207	1919	M>V		No	ClinGen TOPMed
CA1661438 rs752890426	1920	V>A		No	ClinGen ExAC gnomAD
rs778285574 CA1661440	1923	L>F		No	ClinGen ExAC
rs1314377849 CA346853621	1925	L>V		No	ClinGen gnomAD
rs757581941 CA1661442	1926	W>C		No	ClinGen ExAC gnomAD
CA346853639 rs1350345569	1926	W>R		No	ClinGen TOPMed
rs944112678 CA47485671	1932	R>W		No	ClinGen Ensembl
rs866651487 CA47485675	1935	E>K		No	ClinGen Ensembl
rs1572761590 CA346853844	1937	Q>L		No	ClinGen Ensembl
rs768397597 CA1661445	1938	E>D		No	ClinGen ExAC TOPMed gnomAD
rs778270802 CA1661446	1941	R>G		No	ClinGen ExAC gnomAD
rs1452195388 CA346854199	1943	V>A		No	ClinGen gnomAD
CA1661478 rs202119435	1946	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs750929617 CA1661479	1955	G>A		No	ClinGen ExAC gnomAD
rs987197250 CA47486395	1956	I>T		No	ClinGen TOPMed
CA47486405 rs868323084	1965	D>V		No	ClinGen Ensembl
CA1661484 rs777417077	1967	F>L		No	ClinGen ExAC gnomAD
rs1382428479 CA346854387	1970	C>F		No	ClinGen gnomAD
CA1661486 rs200738185	1971	I>V		No	ClinGen ExAC TOPMed gnomAD
rs372165954 CA47486421	1975	K>E		No	ClinGen ESP TOPMed
CA346854420 rs1214054643	1975	K>T		No	ClinGen TOPMed gnomAD
rs140417011 CA1661488	1976	S>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA346854443 rs749497911	1979	A>E		No	ClinGen ExAC gnomAD
CA1661491 rs749497911	1979	A>V		No	ClinGen ExAC gnomAD
rs796559776 CA47486428	1983	Y>D		No	ClinGen Ensembl
CA1661519 rs759914683	1989	K>E		No	ClinGen ExAC gnomAD
rs1421675016 CA346854609 TCGA novel	1989	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
CA346854639 rs1572766222	1991	K>I		No	ClinGen Ensembl
CA1661520 rs765729272	1993	L>P		No	ClinGen ExAC gnomAD
rs1468250475 CA346854690	1994	Q>H		No	ClinGen Ensembl
CA1661523 rs767025514	1996	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1661524 rs749969944	1996	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA346854740 rs1488365737	1998	K>E		No	ClinGen gnomAD
rs1434141452 CA346854787	2001	E>A		No	ClinGen TOPMed
CA346854797 rs1431983026	2002	M>K		No	ClinGen gnomAD
CA47486995 rs878916441	2002	M>V		No	ClinGen gnomAD
CA346854828 rs1478919561	2004	D>G		No	ClinGen TOPMed
rs753842009 CA1661527	2004	D>N		No	ClinGen ExAC TOPMed gnomAD
CA346854846 rs1371121734	2005	K>N		No	ClinGen TOPMed
CA346854883 rs1469941861	2008	D>N		No	ClinGen gnomAD
rs762333666 CA346854901	2009	R>L		No	ClinGen ExAC TOPMed gnomAD
rs762333666 CA1661528 COSM1532049 COSM1532048	2009	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA346854904 rs1264817601	2010	W>R		No	ClinGen TOPMed
rs778726348 CA1661529	2011	E>G		No	ClinGen ExAC gnomAD
TCGA novel	2012	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA47487006 rs1043278587	2012	W>R		No	ClinGen TOPMed
CA346854966 rs1420423916	2014	R>K		No	ClinGen gnomAD
rs1023854605 CA47488161	2017	L>M		No	ClinGen gnomAD
rs1023854605 CA346855043	2017	L>V		No	ClinGen gnomAD
CA346855047 rs1345605278	2018	E>K		No	ClinGen TOPMed
CA1661555 rs770492069	2019	V>F		No	ClinGen ExAC gnomAD
TCGA novel	2019	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1661557 rs749616363	2020	H>R		No	ClinGen ExAC gnomAD
rs763098177 CA346855099	2021	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs760421103 CA1661560	2026	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs915764184 CA47488203	2030	E>K		No	ClinGen TOPMed
CA1661563 rs759453966	2033	L>V		No	ClinGen ExAC gnomAD
CA346855324 rs1319106079	2037	E>V		No	ClinGen gnomAD
CA1661566 rs758089790	2038	P>L		No	ClinGen ExAC
CA346855381 rs1572770734	2039	Y>S		No	ClinGen Ensembl
rs757542523 CA1661569	2040	L>V		No	ClinGen ExAC TOPMed gnomAD
CA47488276 rs147472868	2042	S>N		No	ClinGen ESP
CA47488287 rs145349076	2043	R>L		No	ClinGen ESP ExAC gnomAD
CA1661570 rs145349076	2043	R>Q		No	ClinGen ESP ExAC gnomAD
rs746005973 CA1661571	2045	I>T		No	ClinGen ExAC gnomAD
rs879130788 CA47488293	2046	G>S		No	ClinGen Ensembl
CA1661576 rs774815662	2051	E>K		No	ClinGen ExAC gnomAD
CA346855724 rs1572770845	2052	V>G		No	ClinGen Ensembl
CA346855746 rs1360630206	2053	E>K		No	ClinGen TOPMed gnomAD
CA47488311 CA47488314 rs79870668	2054	K>N		No	ClinGen gnomAD
rs746635758 CA1661577	2054	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	2055	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1661578 rs770673340	2056	I>V		No	ClinGen ExAC gnomAD
rs776278041 CA1661579	2057	K>R		No	ClinGen ExAC gnomAD
rs1341649887 CA346855900	2059	H>L		No	ClinGen gnomAD
rs1299672924 CA346855916	2060	E>G		No	ClinGen gnomAD
rs1049083298 CA47488326	2063	E>Q		No	ClinGen TOPMed
CA346856054 rs1285577303	2065	S>T		No	ClinGen gnomAD
rs1487383977 CA346856072	2066	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA47488328 rs963810534	2071	E>D		No	ClinGen Ensembl
rs919849047 CA47488329	2081	T>I		No	ClinGen Ensembl
rs750646939 CA1661607	2082	L>S		No	ClinGen ExAC gnomAD
rs761014822 CA1661608	2085	L>V		No	ClinGen ExAC gnomAD
CA346857037 rs201593292	2086	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201593292 CA1661609	2086	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs868505067 CA47488956	2088	R>C		No	ClinGen TOPMed
CA1661610 rs371035997	2088	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA47488966 rs959926082	2089	R>T		No	ClinGen Ensembl
CA346857111 rs1310257486	2091	Q>L		No	ClinGen gnomAD
CA346857109 rs1310257486	2091	Q>P		No	ClinGen gnomAD
rs1226656223 CA346857130	2092	E>G		No	ClinGen gnomAD
rs1226656223 CA346857126	2092	E>V		No	ClinGen gnomAD
CA1661614 rs753174302	2096	R>K		No	ClinGen ExAC gnomAD
rs1236149636 CA346857226	2097	K>R		No	ClinGen gnomAD
CA1661618 rs145108116	2099	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA1661617 rs778160145	2099	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA346857267 rs1572773195	2100	P>A		No	ClinGen Ensembl
CA1661619 rs769504742	2100	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1353929037 CA346857283	2101	P>S		No	ClinGen TOPMed
CA47489031 rs980880282	2102	S>A		No	ClinGen Ensembl
rs1413819352 CA346857307	2102	S>F		No	ClinGen gnomAD
TCGA novel	2102	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1661622 rs768058728	2103	P>R		No	ClinGen ExAC gnomAD
rs936886115 CA47489062	2104	E>K		No	ClinGen TOPMed gnomAD
rs936886115 CA346857313	2104	E>Q		No	ClinGen TOPMed gnomAD
CA1661625 rs140309233	2105	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1661624 rs140309233	2105	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1661627 rs147989241	2107	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1661629 rs766647948	2107	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1661628 rs766647948	2107	T>R		No	ClinGen ExAC TOPMed gnomAD
rs765254581 CA1661631	2108	K>R		No	ClinGen ExAC TOPMed gnomAD
CA346857360 rs765254581	2108	K>T		No	ClinGen ExAC TOPMed gnomAD
CA346857375 rs1572773397	2109	V>G		No	ClinGen Ensembl
rs753225753 CA1661632	2109	V>I		No	ClinGen ExAC gnomAD
rs758944908 CA1661633	2110	S>L		No	ClinGen ExAC TOPMed gnomAD
rs932307051 CA346857401	2111	E>D		No	ClinGen TOPMed gnomAD
rs1572773432 CA346857406	2112	E>K		No	ClinGen Ensembl
CA1661635 rs751980890	2113	A>V		No	ClinGen ExAC TOPMed gnomAD
CA1661637 rs779692766	2114	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1237550977 CA346857448	2115	S>A		No	ClinGen gnomAD
rs1237550977 CA346857444	2115	S>T		No	ClinGen gnomAD
CA47489129 rs1004072542	2117	Q>H		No	ClinGen gnomAD
CA47489146 CA1661640 rs778322169	2118	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA346857617 rs770728751	2120	D>G		No	ClinGen ExAC gnomAD
rs1237443421 CA346857612	2120	D>N		No	ClinGen gnomAD
rs770728751 CA1661664	2120	D>V		No	ClinGen ExAC gnomAD
CA1661666 rs746088891	2121	T>A		No	ClinGen ExAC gnomAD
CA47489514 rs189117484	2122	S>L		No	ClinGen 1000Genomes
rs879115815 CA47489518	2123	K>E		No	ClinGen TOPMed gnomAD
CA47489521 rs879040058	2125	E>K		No	ClinGen gnomAD
rs775692384 CA1661668	2126	Q>E		No	ClinGen ExAC
CA1661669 rs762961141	2129	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs145150707 CA1661672	2130	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs573886474 CA1661674	2131	G>A		No	ClinGen 1000Genomes ExAC gnomAD
rs767915045 CA47489540	2131	G>C		No	ClinGen ExAC TOPMed gnomAD
CA1661673 rs767915045	2131	G>S		No	ClinGen ExAC TOPMed gnomAD
rs369581553 CA1661677	2133	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs369581553 CA1661675	2133	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369581553 CA1661676	2133	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1326358541 CA346857941	2135	E>K		No	ClinGen TOPMed gnomAD
rs1310997775 CA346858032	2137	G>A		No	ClinGen gnomAD
rs1444130878 CA346858024	2137	G>R		No	ClinGen gnomAD
rs757199400 CA1661681	2140	R>L		No	ClinGen ExAC TOPMed gnomAD
rs757199400 CA346858136	2140	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA346858122 rs1558480230 COSM1408580 COSM1408579	2140	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1285419972 CA346859262	2144	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1217933047 CA346859273	2145	V>A		No	ClinGen gnomAD
CA346859274 rs1217933047	2145	V>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs370849619 CA1661732	2147	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1661731 rs370849619	2147	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA1661735 rs766911283	2149	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766911283 CA346859311	2149	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA47491370 rs918079666 CA346859340	2150	M>I		No	ClinGen gnomAD
rs1429470792 CA346859346	2151	V>F		No	ClinGen TOPMed
rs1201129500 CA346859362	2152	N>S		No	ClinGen TOPMed
rs766249399 CA1661738	2153	G>S		No	ClinGen ExAC gnomAD
rs549721411 CA1661740	2154	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA346859385 rs765122368	2155	T>A		No	ClinGen ExAC TOPMed gnomAD
CA346859388 rs1276432380	2155	T>I		No	ClinGen TOPMed
CA1661741 rs765122368	2155	T>S		No	ClinGen ExAC TOPMed gnomAD
CA346859398 rs1198736559	2157	Q>E		No	ClinGen TOPMed
rs1558484429 CA346859403	2157	Q>H		No	ClinGen Ensembl
CA346859413 rs1292171873	2159	T>A		No	ClinGen gnomAD
rs35357181 CA1661742	2159	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs777711778 CA346859421	2160	S>N		No	ClinGen ExAC gnomAD
rs777711778 CA1661744	2160	S>T		No	ClinGen ExAC gnomAD
CA47491380 rs879055281	2162	K>E		No	ClinGen Ensembl
CA1661745 rs142711774	2162	K>R		No	ClinGen ExAC TOPMed gnomAD
CA346859449 rs1225507175	2163	E>D		No	ClinGen gnomAD
CA47491384 rs1052067095	2167	I>F		No	ClinGen TOPMed gnomAD
rs1052067095 CA346859504	2167	I>V		No	ClinGen TOPMed gnomAD
rs866477445 CA47491385	2169	S>F		No	ClinGen Ensembl
rs770248886 CA1661749	2170	P>L		No	ClinGen ExAC TOPMed gnomAD
rs202001000 CA1661748	2170	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA346859568 rs1572784495	2171	T>P		No	ClinGen Ensembl
rs747738977 CA1661751	2173	D>Y		No	ClinGen ExAC gnomAD
CA47491389 rs913539017	2174	R>H		No	ClinGen gnomAD
rs771820180 CA1661752	2175	K>R		No	ClinGen ExAC gnomAD
CA1661753 rs569417489	2181	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs765907360 CA1661755	2182	A>T		No	ClinGen ExAC gnomAD
CA1661756 rs750496721	2183	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1306121663 CA346860320	2184	S>C		No	ClinGen gnomAD
rs148708011 CA1661758	2184	S>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA1661757 rs148708011	2184	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs200361368 CA1661760	2186	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA346860376 rs1572784676	2188	L>F		No	ClinGen Ensembl
CA346860446 rs1558484639	2194	E>G		No	ClinGen Ensembl
CA1661763 rs757369686	2194	E>Q		No	ClinGen ExAC gnomAD
rs1204711573 CA346860468	2196	P>S		No	ClinGen TOPMed gnomAD
CA346860463 rs1204711573	2196	P>T		No	ClinGen TOPMed gnomAD
CA1661765 rs781460543	2197	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1661764 rs781460543	2197	S>W		No	ClinGen ExAC TOPMed gnomAD
rs780273707 CA1661767	2198	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1661768 rs749611933	2199	Q>P		No	ClinGen ExAC gnomAD
CA47491413 rs370848377	2200	M>L		No	ClinGen ESP TOPMed gnomAD
CA1661769 rs768929161	2202	G>D		No	ClinGen ExAC gnomAD
rs777444640 CA1661770	2203	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1316240395 CA346860618	2205	N>H		No	ClinGen TOPMed
rs1231118817 CA346860624	2205	N>S		No	ClinGen gnomAD
TCGA novel	2206	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346860642 rs1329785256	2206	R>Q		No	ClinGen gnomAD
TCGA novel	2208	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1274290084 CA346860704	2209	E>K		No	ClinGen gnomAD
rs1274290084 CA346860705	2209	E>Q		No	ClinGen gnomAD
rs1314701722 CA346860724	2210	W>R		No	ClinGen gnomAD
CA1661775 rs769707425	2211	E>D		No	ClinGen ExAC gnomAD
rs759466103 CA1661774	2211	E>G		No	ClinGen ExAC gnomAD
rs775302939 CA1661776	2213	H>R		No	ClinGen ExAC gnomAD
CA1661777 rs762760886	2214	N>S		No	ClinGen ExAC gnomAD
CA346860839 rs1214867068	2215	K>E		No	ClinGen gnomAD
rs763825326 CA1661778	2215	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1440232664 CA346860866	2216	K>R		No	ClinGen gnomAD
rs773594291 CA1661806	2223	H>Y		No	ClinGen ExAC gnomAD
CA1661807 rs760771900	2224	N>H		No	ClinGen ExAC gnomAD
CA346861465 rs1387083111	2224	N>I		No	ClinGen gnomAD
rs766411385 CA1661808	2226	Y>H		No	ClinGen ExAC gnomAD
TCGA novel	2230	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs144956670 CA1661809	2231	N>K		No	ClinGen ESP ExAC gnomAD
CA1661811 rs200682565	2232	Q>E		No	ClinGen ExAC gnomAD
rs1236224652 CA346861763	2234	M>I		No	ClinGen gnomAD
CA1661814 rs780773294	2234	M>T		No	ClinGen ExAC gnomAD
CA1661813 rs758775514	2234	M>V		No	ClinGen ExAC gnomAD
CA1661816 rs755616423	2240	A>E		No	ClinGen ExAC TOPMed gnomAD
COSM1227471 rs745536969 CA1661815	2240	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC
CA346861856 rs755616423 COSM1690593	2240	A>V	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA1661817 rs779477839	2241	K>N		No	ClinGen ExAC
CA346861876 rs1206167209	2242	T>A		No	ClinGen TOPMed gnomAD
rs956588950 CA47491957	2244	A>V		No	ClinGen TOPMed gnomAD
rs749233132 COSM4141157 CA1661818	2246	G>R	ovary [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA1661819 rs768778508	2248	P>L		No	ClinGen ExAC gnomAD
CA346861992 rs1327027637	2251	S>N		No	ClinGen gnomAD
CA346862018 rs1439210037	2253	V>A		No	ClinGen gnomAD
CA346862014 rs1223819042	2253	V>L		No	ClinGen TOPMed
rs945485994 CA346862024	2254	P>L		No	ClinGen TOPMed
rs945485994 CA47491973	2254	P>R		No	ClinGen TOPMed
rs763104814 CA47491975	2255	V>A		No	ClinGen Ensembl
rs747890830 CA1661821	2257	L>F		No	ClinGen ExAC gnomAD
CA1661822 rs763973529	2259	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1462791847 CA346862068	2261	V>D		No	ClinGen gnomAD
rs760858477 CA1661824	2263	E>K		No	ClinGen ExAC gnomAD
CA346862084 rs1298346343	2263	E>V		No	ClinGen TOPMed
COSM575664 CA47492004 rs988626800	2264	V>L	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1308521899 CA346862098	2266	L>I		No	ClinGen gnomAD
CA346862106 rs1437370865	2267	D>N		No	ClinGen TOPMed
CA1661851 rs762237997	2281	D>Y		No	ClinGen ExAC gnomAD
rs879195142 CA47492772	2283	N>S		No	ClinGen TOPMed gnomAD
rs753548518 CA346863003	2287	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1465852464 CA346863026	2291	D>N		No	ClinGen gnomAD
rs778617466 CA1661855	2291	D>V		No	ClinGen ExAC
rs1380865000 CA346863037	2292	D>G		No	ClinGen gnomAD
rs1361750474 CA346863033	2292	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1361750474 CA346863035	2292	D>Y		No	ClinGen TOPMed gnomAD
CA346863087 rs1190645789	2293	E>Q		No	ClinGen TOPMed
TCGA novel	2295	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346863117 rs1306316685	2295	M>V		No	ClinGen gnomAD
TCGA novel	2301	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA346863225 rs1211486270	2302	I>M		No	ClinGen TOPMed gnomAD
rs781087718 CA1661881	2302	I>T		No	ClinGen ExAC gnomAD
rs756970310 CA1661880	2302	I>V		No	ClinGen ExAC gnomAD
CA346863249 COSM3695545 rs1231763718	2304	S>F	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA346863253 rs201443812	2305	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346863256 rs201443812	2305	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1661883 rs201443812	2305	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761865265 CA47493160	2306	I>M		No	ClinGen Ensembl
rs780256140 CA1661884	2306	I>T		No	ClinGen ExAC gnomAD
CA1661885 rs749303998	2307	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA346863305 rs993843828	2309	D>E		No	ClinGen TOPMed
rs1315442161 CA346863302	2309	D>V		No	ClinGen TOPMed gnomAD
rs1572792689 CA346863323	2310	K>N		No	ClinGen Ensembl
CA346863336 rs1558488441	2311	H>L		No	ClinGen Ensembl
CA1661887 rs540132022	2312	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs540132022 CA346863341	2312	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA1661888 rs748740459	2314	S>P		No	ClinGen ExAC gnomAD
rs1396985489 CA346863379	2315	A>T		No	ClinGen gnomAD
rs772312355 CA1661889	2315	A>V		No	ClinGen ExAC gnomAD
CA346863409 rs1572792763	2317	T>P		No	ClinGen Ensembl
rs1339074096 CA346863421	2318	Q>K		No	ClinGen gnomAD
rs761129420 CA1661891	2319	S>G		No	ClinGen ExAC TOPMed gnomAD
CA1661892 COSM1408581 rs112558321	2320	T>M	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	2321	P>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs188519257 CA47493168	2321	P>S		No	ClinGen 1000Genomes TOPMed
CA1661894 rs369860439	2322	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	2323	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1231253238 CA346863482	2323	S>A		No	ClinGen gnomAD
rs763701032 CA1661895	2323	S>C		No	ClinGen ExAC gnomAD
CA1661896 rs751427822	2325	R>C		No	ClinGen ExAC TOPMed gnomAD
rs757274643 CA1661897	2325	R>H		No	ClinGen ExAC TOPMed gnomAD
rs200348448 CA1661899	2326	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200348448 CA47493182	2326	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1661898 rs200348448 COSM1021721	2326	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
COSM1408582 rs748736138 CA1661900	2326	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA1661902 rs200093475	2328	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1572792933 CA346863531	2328	T>P		No	ClinGen Ensembl
CA346863535 rs1420386379	2329	L>F		No	ClinGen TOPMed gnomAD
rs1420386379 CA346863536	2329	L>V		No	ClinGen TOPMed gnomAD
rs748602373 CA1661905	2332	S>G		No	ClinGen ExAC gnomAD
rs772551816 CA1661907 COSM1408583	2333	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs150630405 CA1661909	2334	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA346863570 rs1294918151	2335	T>P		No	ClinGen gnomAD
CA346863577 rs1213696319	2336	I>V		No	ClinGen gnomAD
CA346863585 rs1308798022	2337	T>P		No	ClinGen gnomAD
rs575609904 CA47493209	2338	S>G		No	ClinGen 1000Genomes gnomAD
rs879138624 CA47493211	2339	E>D		No	ClinGen TOPMed gnomAD
CA346863596 rs763496837	2339	E>K		No	ClinGen ExAC TOPMed gnomAD
rs763496837 CA1661912	2339	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA47493212 rs1009122178	2340	S>F		No	ClinGen gnomAD
CA346863608 rs1301367329	2341	S>G		No	ClinGen TOPMed
rs773977579 CA1661913	2342	P>T		No	ClinGen ExAC TOPMed gnomAD
CA1661917 rs374335221	2343	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA1661918 rs766198256	2343	G>D		No	ClinGen ExAC gnomAD
CA1661916 COSM1494966 rs374335221	2343	G>S	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs753996702 CA1661919	2345	R>Q		No	ClinGen ExAC gnomAD
rs900164143 CA47493214	2345	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1314641528 CA346863775	2353	K>R		No	ClinGen gnomAD
rs779012664 CA1661921	2356	R>W		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	2358	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1661923 rs758431731	2358	S>N		No	ClinGen ExAC gnomAD
rs1186330736 CA346863858	2359	L>V		No	ClinGen TOPMed
CA1661924 rs778384485	2362	K>N		No	ClinGen ExAC gnomAD
rs1558488787	2363	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	2364	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

1 associated diseases with Q01082

[MIM: 619475]: Developmental delay, impaired speech, and behavioral abnormalities (DDISBA)

An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss. {ECO:0000269|PubMed:34211179}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal dominant disorder characterized by developmental delay with speech impairment, mild to severe intellectual disability, and behavioral abnormalities including autistic features. Additional variable manifestations may include dysmorphic facial features, seizures, hypotonia, motor abnormalities, and hearing loss. {ECO:0000269|PubMed:34211179}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for Q01082

Type	Name	Position	InterPro Accession
conserved_site	Helix-turn-helix motif	146 - 171	IPR000047
domain	Homeobox domain	115 - 179	IPR001356
domain	OAR domain	271 - 288	IPR003654
conserved_site	Homeobox, conserved site	150 - 173	IPR017970

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm, cytoskeleton Cytoplasm, myofibril, sarcomere, M line Cytoplasm, cytosol Cell membrane	Colocalizes with ANK2 in a distinct intracellular compartment of neonatal cardiomyocytes
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

15 GO annotations of cellular component

Name	Definition
axolemma	The portion of the plasma membrane surrounding an axon; it is a specialized trilaminar random mosaic of protein molecules floating within a fluid matrix of highly mobile phospholipid molecules, 7-8 nm in thickness.
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
cortical actin cytoskeleton	The portion of the actin cytoskeleton, comprising filamentous actin and associated proteins, that lies just beneath the plasma membrane.
cuticular plate	A dense network of actin filaments found beneath the apical cell surface of hair cells, and into which stereocilia are inserted.
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.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
M band	The midline of aligned thick filaments in a sarcomere; location of specific proteins that link thick filaments. Depending on muscle type the M band consists of different numbers of M lines.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
spectrin	Membrane associated dimeric protein (240 and 220 kDa) of erythrocytes. Forms a complex with ankyrin, actin and probably other components of the membrane cytoskeleton, so that there is a mesh of proteins underlying the plasma membrane, potentially restricting the lateral mobility of integral proteins.
spectrin-associated cytoskeleton	The part of the cytoskeleton composed of spectrin, protein 4.1 and ankyrin. Spectrin-associated cytoskeleton is associated with the plasma membrane.

9 GO annotations of molecular function

Name	Definition
actin binding	Binding to monomeric or multimeric forms of actin, including actin filaments.
actin filament binding	Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
ankyrin binding	Binding to ankyrin, a 200 kDa cytoskeletal protein that attaches other cytoskeletal proteins to integral membrane proteins.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
calmodulin binding	Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
GTPase binding	Binding to a GTPase, any enzyme that catalyzes the hydrolysis of GTP.
phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.
RNA binding	Binding to an RNA molecule or a portion thereof.
structural constituent of cytoskeleton	The action of a molecule that contributes to the structural integrity of a cytoskeletal structure.

14 GO annotations of biological process

Name	Definition
actin cytoskeleton organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of cytoskeletal structures comprising actin filaments and their associated proteins.
actin filament capping	The binding of a protein or protein complex to the end of an actin filament, thus preventing the addition, exchange or removal of further actin subunits.
central nervous system development	The process whose specific outcome is the progression of the central nervous system over time, from its formation to the mature structure. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain and spinal cord. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.
central nervous system formation	The process that gives rise to the central nervous system. This process pertains to the initial formation of a structure from unspecified parts. The central nervous system is the core nervous system that serves an integrating and coordinating function. In vertebrates it consists of the brain, spinal cord and spinal nerves. In those invertebrates with a central nervous system it typically consists of a brain, cerebral ganglia and a nerve cord.
common-partner SMAD protein phosphorylation	The process of introducing a phosphate group on to a common-partner SMAD protein. A common partner SMAD protein binds to pathway-restricted SMAD proteins forming a complex that translocates to the nucleus.
Golgi to plasma membrane protein transport	The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane.
membrane assembly	The aggregation, arrangement and bonding together of a set of components to form a membrane.
mitotic cytokinesis	A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells.
plasma membrane organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane.
positive regulation of interleukin-2 production	Any process that activates or increases the frequency, rate, or extent of interleukin-2 production.
positive regulation of protein localization to plasma membrane	Any process that activates or increases the frequency, rate or extent of protein localization to plasma membrane.
protein localization to plasma membrane	A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane.
regulation of protein localization to plasma membrane	Any process that modulates the frequency, rate or extent of protein localization to plasma membrane.
regulation of SMAD protein signal transduction	Any process that modulates the rate, frequency or extent of SMAD protein signal transduction. Pathway-restricted SMAD proteins and common-partner SMAD proteins are involved in the transforming growth factor beta receptor signaling pathways.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
O15020	SPTBN2	Spectrin beta chain, non-erythrocytic 2	Homo sapiens (Human)	PR
P11277	SPTB	Spectrin beta chain, erythrocytic	Homo sapiens (Human)	PR
P35609	ACTN2	Alpha-actinin-2	Homo sapiens (Human)	EV
Q08043	ACTN3	Alpha-actinin-3	Homo sapiens (Human)	SS
O43707	ACTN4	Alpha-actinin-4	Homo sapiens (Human)	SS
P12814	ACTN1	Alpha-actinin-1	Homo sapiens (Human)	SS
P15508	Sptb	Spectrin beta chain, erythrocytic	Mus musculus (Mouse)	PR
Q62261	Sptbn1	Spectrin beta chain, non-erythrocytic 1	Mus musculus (Mouse)	PR
Q9QWN8	Sptbn2	Spectrin beta chain, non-erythrocytic 2	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MTTTVATDYD	NIEIQQQYSD	VNNRWDVDDW	DNENSSARLF	ERSRIKALAD	EREAVQKKTF
70	80	90	100	110	120
TKWVNSHLAR	VSCRITDLYT	DLRDGRMLIK	LLEVLSGERL	PKPTKGRMRI	HCLENVDKAL
130	140	150	160	170	180
QFLKEQRVHL	ENMGSHDIVD	GNHRLTLGLI	WTIILRFQIQ	DISVETEDNK	EKKSAKDALL
190	200	210	220	230	240
LWCQMKTAGY	PNVNIHNFTT	SWRDGMAFNA	LIHKHRPDLI	DFDKLKKSNA	HYNLQNAFNL
250	260	270	280	290	300
AEQHLGLTKL	LDPEDISVDH	PDEKSIITYV	VTYYHYFSKM	KALAVEGKRI	GKVLDNAIET
310	320	330	340	350	360
EKMIEKYESL	ASDLLEWIEQ	TIIILNNRKF	ANSLVGVQQQ	LQAFNTYRTV	EKPPKFTEKG
370	380	390	400	410	420
NLEVLLFTIQ	SKMRANNQKV	YMPREGKLIS	DINKAWERLE	KAEHERELAL	RNELIRQEKL
430	440	450	460	470	480
EQLARRFDRK	AAMRETWLSE	NQRLVSQDNF	GFDLPAVEAA	TKKHEAIETD	IAAYEERVQA
490	500	510	520	530	540
VVAVARELEA	ENYHDIKRIT	ARKDNVIRLW	EYLLELLRAR	RQRLEMNLGL	QKIFQEMLYI
550	560	570	580	590	600
MDWMDEMKVL	VLSQDYGKHL	LGVEDLLQKH	TLVEADIGIQ	AERVRGVNAS	AQKFATDGEG
610	620	630	640	650	660
YKPCDPQVIR	DRVAHMEFCY	QELCQLAAER	RARLEESRRL	WKFFWEMAEE	EGWIREKEKI
670	680	690	700	710	720
LSSDDYGKDL	TSVMRLLSKH	RAFEDEMSGR	SGHFEQAIKE	GEDMIAEEHF	GSEKIRERII
730	740	750	760	770	780
YIREQWANLE	QLSAIRKKRL	EEASLLHQFQ	ADADDIDAWM	LDILKIVSSS	DVGHDEYSTQ
790	800	810	820	830	840
SLVKKHKDVA	EEIANYRPTL	DTLHEQASAL	PQEHAESPDV	RGRLSGIEER	YKEVAELTRL
850	860	870	880	890	900
RKQALQDTLA	LYKMFSEADA	CELWIDEKEQ	WLNNMQIPEK	LEDLEVIQHR	FESLEPEMNN
910	920	930	940	950	960
QASRVAVVNQ	IARQLMHSGH	PSEKEIKAQQ	DKLNTRWSQF	RELVDRKKDA	LLSALSIQNY
970	980	990	1000	1010	1020
HLECNETKSW	IREKTKVIES	TQDLGNDLAG	VMALQRKLTG	MERDLVAIEA	KLSDLQKEAE
1030	1040	1050	1060	1070	1080
KLESEHPDQA	QAILSRLAEI	SDVWEEMKTT	LKNREASLGE	ASKLQQFLRD	LDDFQSWLSR
1090	1100	1110	1120	1130	1140
TQTAIASEDM	PNTLTEAEKL	LTQHENIKNE	IDNYEEDYQK	MRDMGEMVTQ	GQTDAQYMFL
1150	1160	1170	1180	1190	1200
RQRLQALDTG	WNELHKMWEN	RQNLLSQSHA	YQQFLRDTKQ	AEAFLNNQEY	VLAHTEMPTT
1210	1220	1230	1240	1250	1260
LEGAEAAIKK	QEDFMTTMDA	NEEKINAVVE	TGRRLVSDGN	INSDRIQEKV	DSIDDRHRKN
1270	1280	1290	1300	1310	1320
RETASELLMR	LKDNRDLQKF	LQDCQELSLW	INEKMLTAQD	MSYDEARNLH	SKWLKHQAFM
1330	1340	1350	1360	1370	1380
AELASNKEWL	DKIEKEGMQL	ISEKPETEAV	VKEKLTGLHK	MWEVLESTTQ	TKAQRLFDAN
1390	1400	1410	1420	1430	1440
KAELFTQSCA	DLDKWLHGLE	SQIQSDDYGK	DLTSVNILLK	KQQMLENQME	VRKKEIEELQ
1450	1460	1470	1480	1490	1500
SQAQALSQEG	KSTDEVDSKR	LTVQTKFMEL	LEPLNERKHN	LLASKEIHQF	NRDVEDEILW
1510	1520	1530	1540	1550	1560
VGERMPLATS	TDHGHNLQTV	QLLIKKNQTL	QKEIQGHQPR	IDDIFERSQN	IVTDSSSLSA
1570	1580	1590	1600	1610	1620
EAIRQRLADL	KQLWGLLIEE	TEKRHRRLEE	AHRAQQYYFD	AAEAEAWMSE	QELYMMSEEK
1630	1640	1650	1660	1670	1680
AKDEQSAVSM	LKKHQILEQA	VEDYAETVHQ	LSKTSRALVA	DSHPESERIS	MRQSKVDKLY
1690	1700	1710	1720	1730	1740
AGLKDLAEER	RGKLDERHRL	FQLNREVDDL	EQWIAEREVV	AGSHELGQDY	EHVTMLQERF
1750	1760	1770	1780	1790	1800
REFARDTGNI	GQERVDTVNH	LADELINSGH	SDAATIAEWK	DGLNEAWADL	LELIDTRTQI
1810	1820	1830	1840	1850	1860
LAASYELHKF	YHDAKEIFGR	IQDKHKKLPE	ELGRDQNTVE	TLQRMHTTFE	HDIQALGTQV
1870	1880	1890	1900	1910	1920
RQLQEDAARL	QAAYAGDKAD	DIQKRENEVL	EAWKSLLDAC	ESRRVRLVDT	GDKFRFFSMV
1930	1940	1950	1960	1970	1980
RDLMLWMEDV	IRQIEAQEKP	RDVSSVELLM	NNHQGIKAEI	DARNDSFTTC	IELGKSLLAR
1990	2000	2010	2020	2030	2040
KHYASEEIKE	KLLQLTEKRK	EMIDKWEDRW	EWLRLILEVH	QFSRDASVAE	AWLLGQEPYL
2050	2060	2070	2080	2090	2100
SSREIGQSVD	EVEKLIKRHE	AFEKSAATWD	ERFSALERLT	TLELLEVRRQ	QEEEERKRRP
2110	2120	2130	2140	2150	2160
PSPEPSTKVS	EEAESQQQWD	TSKGEQVSQN	GLPAEQGSPR	MAETVDTSEM	VNGATEQRTS
2170	2180	2190	2200	2210	2220
SKESSPIPSP	TSDRKAKTAL	PAQSAATLPA	RTQETPSAQM	EGFLNRKHEW	EAHNKKASSR
2230	2240	2250	2260	2270	2280
SWHNVYCVIN	NQEMGFYKDA	KTAASGIPYH	SEVPVSLKEA	VCEVALDYKK	KKHVFKLRLN
2290	2300	2310	2320	2330	2340
DGNEYLFQAK	DDEEMNTWIQ	AISSAISSDK	HEVSASTQST	PASSRAQTLP	TSVVTITSES
2350	2360
SPGKREKDKE	KDKEKRFSLF	GKKK