AiPD: Autoinhibited Protein Database

Q9NZM1

Gene name	MYOF (FER1L3, KIAA1207)
Protein name	Myoferlin
Names	Fer-1-like protein 3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:26509
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

119-227 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

119-227 (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 Q9NZM1

Entry ID	Method	Resolution	Chain	Position	Source
2DMH	NMR	-	A	1-127	PDB
2K2O	NMR	-	A	923-1040	PDB
6EEL	X-ray	193 A	A/B/C	1-125	PDB
AF-Q9NZM1-F1	Predicted				AlphaFoldDB

1798 variants for Q9NZM1

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1256778304 VAR_085819 CA377620010	217	R>S	HAE7; unknown pathological significance [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
CA5608775 rs185721667 COSM283075	3	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs755278335 CA5608772	5	I>T		No	ClinGen ExAC gnomAD
rs999534754 CA211553851	7	E>*		No	ClinGen TOPMed
rs1446665131 CA377607995	10	S>G		No	ClinGen gnomAD
CA377607981 rs1359001963	10	S>R		No	ClinGen TOPMed
CA5608770 rs532506401	11	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377607942 rs1564750812	14	K>E		No	ClinGen Ensembl
CA377607922 rs1338124563	15	T>M		No	ClinGen TOPMed gnomAD
rs773720695 CA5608768	16	K>*		No	ClinGen ExAC gnomAD
CA377607868 rs1242609040	20	P>R		No	ClinGen TOPMed
rs369548229 CA211553838	22	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608766 rs369548229	22	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA377607851 rs1430616613	22	P>T		No	ClinGen TOPMed gnomAD
CA377607833 rs1471932943	24	V>I		No	ClinGen TOPMed gnomAD
CA377607808 rs1204364638	26	V>A		No	ClinGen gnomAD
rs1407742459 CA377607783	28	F>C		No	ClinGen Ensembl
CA377607781 rs1257299049	28	F>L		No	ClinGen gnomAD
rs775070716 CA5608765	29	K>R		No	ClinGen ExAC gnomAD
CA377607764 rs1589633178	30	D>H		No	ClinGen Ensembl
rs1042117747 CA211537906	31	E>K		No	ClinGen Ensembl
CA377602643 COSM1506427 COSM3686926 rs1290751479	33	K>N	lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	34	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377602628 rs1364325746	36	K>E		No	ClinGen gnomAD
CA5608740 rs770311001	37	K>E		No	ClinGen ExAC gnomAD
rs762578272 CA5608739	38	V>A		No	ClinGen ExAC TOPMed
rs576966961 CA5608736	41	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA5608735 rs373845550	42	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs780837832 CA5608734	43	N>K		No	ClinGen ExAC gnomAD
CA377602567 rs1259186161	44	P>R		No	ClinGen gnomAD
CA377602565 rs1053835661	45	V>I		No	ClinGen gnomAD
rs1053835661 CA211537852	45	V>L		No	ClinGen gnomAD
rs894959444 CA211537851	46	W>*		No	ClinGen TOPMed
CA377602543 rs1485873518	47	N>D		No	ClinGen gnomAD
rs1199586481 CA377600980	52	F>Y		No	ClinGen TOPMed
CA377600950 rs1485726091	53	D>G		No	ClinGen gnomAD
CA5608704 rs370389342	55	R>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1394147171 CA377600875	56	G>D		No	ClinGen TOPMed gnomAD
rs1394147171 CA377600868	56	G>V		No	ClinGen TOPMed gnomAD
CA377600661 rs1462219245	64	S>F		No	ClinGen gnomAD
CA377600568 rs1181248079	70	K>N		No	ClinGen gnomAD
rs1322466238 CA377600575	70	K>T		No	ClinGen TOPMed gnomAD
CA5608701 rs753078668	72	F>Y		No	ClinGen ExAC gnomAD
CA5608700 rs768065531	74	T>I		No	ClinGen ExAC gnomAD
CA211534647 rs769552656	75	I>T		No	ClinGen Ensembl
rs1436565714 CA377600497	75	I>V		No	ClinGen gnomAD
CA5608698 rs750115521	76	G>E		No	ClinGen ExAC gnomAD
CA211534644 rs967824964	77	Q>K		No	ClinGen Ensembl
rs764771189 CA5608697	77	Q>R		No	ClinGen ExAC gnomAD
rs763578018 CA5608676	80	L>I		No	ClinGen ExAC gnomAD
rs1589559641 CA377627104	81	I>M		No	ClinGen Ensembl
CA5608673 rs541903155	83	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs767261489 CA5608672	83	T>M		No	ClinGen ExAC TOPMed gnomAD
rs200304153 CA377627026	84	A>E		No	ClinGen 1000Genomes ExAC gnomAD
CA5608669 rs200304153	84	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA377626992 rs1410822001	86	V>A		No	ClinGen gnomAD
rs773331744 CA5608667	87	A>S		No	ClinGen ExAC gnomAD
TCGA novel	89	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA211579689 rs577447958	90	D>G		No	ClinGen 1000Genomes
CA377626888 rs1427705486	92	T>S		No	ClinGen gnomAD
CA377626864 rs1589559506	94	D>A		No	ClinGen Ensembl
rs781771822 CA5608664	95	Q>H		No	ClinGen ExAC gnomAD
CA5608665 rs748623906	95	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA377626780 rs1213761112	97	R>S		No	ClinGen gnomAD
CA377626775 rs180853104	98	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5608663 RCV000971780 rs180853104	98	S>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA377626757 rs1286266458	99	L>P		No	ClinGen gnomAD
rs537738799 CA377626736	100	P>L		No	ClinGen ExAC gnomAD
rs537738799 CA5608661	100	P>Q		No	ClinGen ExAC gnomAD
CA5608662 COSM466102 rs369425898	100	P>S	kidney [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5608659 rs753490937	101	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs777277992 CA5608658	103	L>V		No	ClinGen ExAC TOPMed gnomAD
rs752584251 CA5608656	108	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5608655 rs767420919	109	E>D		No	ClinGen ExAC gnomAD
rs1346527535 CA377626576	109	E>G		No	ClinGen gnomAD
CA377626560 rs1451946528	110	K>R		No	ClinGen TOPMed
rs1564713618 CA377626545	111	G>R		No	ClinGen Ensembl
CA5608654 rs759510849	112	Q>*		No	ClinGen ExAC TOPMed
rs1404496978 CA377626516	112	Q>R		No	ClinGen gnomAD
rs201492572 CA5608652	114	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201492572 CA5608653	114	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	116	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1185418390 CA377624745	118	I>T		No	ClinGen gnomAD
CA377624751 rs1471653184	118	I>V		No	ClinGen TOPMed
rs577066502 CA377624686	123	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577066502 CA5608636	123	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377624654 rs1353163207	124	Y>*		No	ClinGen gnomAD
rs1406846310 CA377624660	124	Y>C		No	ClinGen gnomAD
rs751514621 CA5608634	126	P>L		No	ClinGen ExAC gnomAD
rs1316530284 CA377624590	127	P>L		No	ClinGen TOPMed gnomAD
rs1373205530 CA377624471	133	N>S		No	ClinGen gnomAD
CA377624451 rs1296841849 CA377624449	134	D>E		No	ClinGen gnomAD
CA5608629 CA377624416 rs762163573	136	S>R		No	ClinGen ExAC TOPMed gnomAD
rs557119618 CA5608628 COSM428151	137	G>R	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs557119618 CA211576050	137	G>W		No	ClinGen 1000Genomes ExAC gnomAD
CA377624370 rs1422974446	139	S>N		No	ClinGen gnomAD
rs775863239 CA211576034	140	V>A		No	ClinGen ExAC gnomAD
rs775863239 CA5608625	140	V>G		No	ClinGen ExAC gnomAD
CA5608626 rs537178114	140	V>M		No	ClinGen 1000Genomes ExAC gnomAD
CA377624345 rs1249680430	141	P>A		No	ClinGen TOPMed gnomAD
rs1249680430 CA377624343	141	P>S		No	ClinGen TOPMed gnomAD
CA377624333 rs1175286423	142	G>C		No	ClinGen TOPMed gnomAD
CA377620757 rs1171019847	147	G>R		No	ClinGen TOPMed
CA5608605 rs774566772	151	E>D		No	ClinGen ExAC gnomAD
CA5608606 rs760155665	151	E>K		No	ClinGen ExAC gnomAD
rs1199208697 CA377620638	152	G>D		No	ClinGen gnomAD
CA211562306 rs987915995	153	D>E		No	ClinGen gnomAD
rs1189899013 CA377620553	156	R>M		No	ClinGen gnomAD
CA5608602 rs747736545	159	N>D		No	ClinGen ExAC TOPMed gnomAD
rs189864047 CA5608601	159	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1326020699 CA377620500	160	A>E		No	ClinGen gnomAD
CA211562266 rs953305764	161	V>I		No	ClinGen Ensembl
rs137909001 CA5608598	163	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137909001 CA5608599	163	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377620486 rs1227043511	163	G>R		No	ClinGen gnomAD
rs1297867912 CA377620481	164	P>A		No	ClinGen gnomAD
CA5608597 rs554546769	164	P>L		No	ClinGen 1000Genomes ExAC gnomAD
CA211562240 rs1015140773	165	G>R		No	ClinGen TOPMed
rs764027281	166	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA377620468 rs1203843892	166	P>L		No	ClinGen TOPMed
rs745872398 CA5608595	166	P>S		No	ClinGen ExAC TOPMed
CA377620463 rs866532789	167	K>R		No	ClinGen TOPMed
rs866532789 CA211562232	167	K>T		No	ClinGen TOPMed
CA5608593 rs757120672	168	G>E		No	ClinGen ExAC gnomAD
CA377620460 rs1192000001	168	G>R		No	ClinGen TOPMed
TCGA novel	169	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	169	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172922221 CA377620445	170	V>A		No	ClinGen gnomAD
rs1450476124 CA377620440	171	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5608591 rs540906575	172	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs540906575 CA5608592	172	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs145218223 CA5608589	173	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759907009 COSM3709909 CA5608587	174	S>L	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1444623875 CA377620415	176	A>T		No	ClinGen gnomAD
TCGA novel	176	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5608585 rs766692978	177	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA5608584 rs763332580	178	L>P		No	ClinGen ExAC TOPMed gnomAD
CA377620390 rs140215599	180	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5608582 rs140215599	180	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs773612352 CA5608583	180	R>W		No	ClinGen ExAC TOPMed gnomAD
rs957670391 CA211562108	181	R>M		No	ClinGen TOPMed
CA377620371 rs1268219770	183	T>I		No	ClinGen TOPMed
rs1361134565 CA377620369	184	K>E		No	ClinGen TOPMed
rs1358897036 CA377620359	185	V>E		No	ClinGen gnomAD
CA5608580 rs774846579	186	K>N		No	ClinGen ExAC
rs1312991091 CA377620344	187	N>T		No	ClinGen gnomAD
CA377620333 rs771623993	189	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200722080 CA5608578	189	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608579 rs771623993	189	R>W		No	ClinGen ExAC TOPMed gnomAD
rs374976050 CA211562057	190	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608576 rs374976050	190	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs369478322 CA5608577	190	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608575 rs755173669	192	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5608574 rs777780121	193	S>L		No	ClinGen ExAC gnomAD
rs537971215 CA211562039	195	K>N		No	ClinGen 1000Genomes
CA5608571 rs568971785	197	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756391494 CA5608573	197	Q>R		No	ClinGen ExAC gnomAD
CA377620277 rs1161109687	198	D>E		No	ClinGen gnomAD
CA377620282 rs1218388444	198	D>H		No	ClinGen TOPMed gnomAD
rs1218388444 CA377620283	198	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1474082995 CA377620268	199	F>L		No	ClinGen gnomAD
TCGA novel	200	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769431965 COSM321908 CA5608537	202	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
COSM1506428 rs555479300 CA5608536	202	R>H	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5608534 rs199781171	203	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5608533 rs370504948	204	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs370504948 CA377620095	204	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs367957667 CA5608532	204	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608531 rs367957667	204	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1050558144 CA211561440	205	V>A		No	ClinGen Ensembl
rs1165166183 CA377620084	206	I>T		No	ClinGen Ensembl
CA211561436 rs961559926	208	G>V		No	ClinGen TOPMed
CA5608529 rs201653722	209	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs201653722 CA377620068	209	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608528 rs757752506	209	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs923001908 CA211561424	211	L>F		No	ClinGen TOPMed
rs1269108936 CA377620048	212	S>N		No	ClinGen gnomAD
rs1432197157 CA377620045	212	S>R		No	ClinGen gnomAD
CA5608527 rs201049312	213	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1265483197 CA377620042	213	G>R		No	ClinGen gnomAD
rs780933534 CA5608525	216	I>V		No	ClinGen ExAC gnomAD
rs1334787558 CA377620013	217	R>K		No	ClinGen gnomAD
rs1291932950 CA377619989	219	V>A		No	ClinGen gnomAD
rs1178666282 CA377619985	220	V>F		No	ClinGen gnomAD
rs1415298681 CA377619956	222	V>I		No	ClinGen gnomAD
CA5608524 rs751262466	223	H>Y		No	ClinGen ExAC gnomAD
CA5608521 rs191351447	224	V>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762578223 CA377619919	224	V>F		No	ClinGen ExAC gnomAD
rs762578223 CA5608522	224	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5608520 rs376108174	225	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608519 rs761719781	226	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1235561604 CA377619860	227	Q>R		No	ClinGen gnomAD
CA377619819 rs1211921790	229	H>R		No	ClinGen gnomAD
CA377619802 rs1312430528	230	R>*		No	ClinGen TOPMed gnomAD
CA5608518 rs770765153	230	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs768344904 CA5608517	232	R>G		No	ClinGen ExAC gnomAD
CA377619743 rs1393025939	233	I>M		No	ClinGen gnomAD
rs1343766080 CA377619705	235	R>S		No	ClinGen gnomAD
CA377619663 rs1245956031	238	N>H		No	ClinGen gnomAD
rs747164195 CA377619652	238	N>K		No	ClinGen ExAC gnomAD
TCGA novel	238	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5608514 rs201956372	239	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5608512 rs201956372	239	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5608513 rs201956372	239	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759480107	242	D>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1306476366 CA377619608	242	D>V		No	ClinGen gnomAD
CA5608510 rs778898581	243	E>G		No	ClinGen ExAC gnomAD
CA5608491 rs749764734	244	L>*		No	ClinGen ExAC gnomAD
rs1424318563 CA377618328	245	F>L		No	ClinGen gnomAD
CA5608490 rs778168720	245	F>S		No	ClinGen ExAC gnomAD
TCGA novel	246	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs895214356 CA211557008	246	F>S		No	ClinGen TOPMed
CA5608489 rs147909704	247	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5608488 rs748496616	248	N>S		No	ClinGen ExAC gnomAD
CA377618223 rs1220993155	250	N>S		No	ClinGen TOPMed gnomAD
rs781734401 CA5608487	252	T>N		No	ClinGen ExAC gnomAD
rs750053514 CA5608485	257	M>V		No	ClinGen ExAC gnomAD
rs1266694706 CA377618045	259	E>A		No	ClinGen gnomAD
rs1042550617 CA211556990	260	I>L		No	ClinGen Ensembl
rs1225585433 CA377617976	263	I>F		No	ClinGen TOPMed gnomAD
rs1266660083 CA377617960	264	R>Q		No	ClinGen gnomAD
rs1316813276 CA377617962	264	R>W		No	ClinGen gnomAD
rs1485839694 CA377617877	265	V>F		No	ClinGen gnomAD
rs762923340 CA5608472	267	N>D		No	ClinGen ExAC gnomAD
CA377617817 rs1210969830	267	N>I		No	ClinGen gnomAD
rs1330327852 CA377617784	268	S>F		No	ClinGen TOPMed gnomAD
rs911849531 CA211556893	269	H>D		No	ClinGen TOPMed gnomAD
rs773384537 CA5608471	269	H>L		No	ClinGen ExAC gnomAD
rs770424495 CA5608470	270	S>F		No	ClinGen ExAC gnomAD
rs748725636 CA5608469	271	L>P		No	ClinGen ExAC TOPMed gnomAD
CA5608464 rs745490419	272	R>Q		No	ClinGen ExAC gnomAD
COSM4165576 rs12262721 CA5608466	272	R>W	kidney [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs756981691 CA5608462	273	A>E		No	ClinGen ExAC TOPMed gnomAD
CA5608463 rs748584980	273	A>T		No	ClinGen ExAC TOPMed gnomAD
CA377617685 rs1389181826	274	D>Y		No	ClinGen gnomAD
CA5608461 rs748714584	275	C>R		No	ClinGen ExAC gnomAD
rs368077346 CA5608460	277	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs756031235 CA5608459	278	G>R		No	ClinGen ExAC gnomAD
CA918734085 rs1589514029	282	I>S		No	ClinGen Ensembl
rs1204781136 CA377617032	282	I>T		No	ClinGen gnomAD
CA211556116 rs949271303	283	D>N		No	ClinGen gnomAD
rs1589512296 CA377617018	284	V>A		No	ClinGen Ensembl
TCGA novel	287	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	288	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5608438 rs754986247	288	Y>C		No	ClinGen ExAC gnomAD
CA377616972 rs1283455590	291	P>A		No	ClinGen gnomAD
rs181979817	292	G>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1320989716 CA377616939	294	A>T		No	ClinGen TOPMed gnomAD
CA5608410 rs757592649	296	M>V		No	ClinGen ExAC gnomAD
rs753960311 CA5608409	299	W>R		No	ClinGen ExAC gnomAD
CA5608408 rs764291558	301	L>F		No	ClinGen ExAC gnomAD
CA5608407 rs761028974	302	L>F		No	ClinGen ExAC
CA377616853 rs1414641965	303	N>D		No	ClinGen gnomAD
rs1375828064 CA377616847	303	N>S		No	ClinGen gnomAD
CA377616855 rs1414641965	303	N>Y		No	ClinGen gnomAD
CA5608406 rs371497868	305	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5608404 rs759873016	307	D>G		No	ClinGen ExAC gnomAD
rs36072133 CA5608402	308	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA211555789 rs1015714229	311	G>C		No	ClinGen Ensembl
CA5608401 rs775797569	311	G>V		No	ClinGen ExAC gnomAD
rs1207887277 CA377616756	312	S>Y		No	ClinGen TOPMed gnomAD
rs373191266 CA211555781	314	G>R		No	ClinGen ESP
rs1343817954 CA377616714	316	M>I		No	ClinGen gnomAD
CA377616718 rs1224042468	316	M>T		No	ClinGen gnomAD
CA377616724 rs1269772174	316	M>V		No	ClinGen TOPMed gnomAD
rs775980479 CA211555780	320	M>K		No	ClinGen Ensembl
rs746877048 CA5608398	324	G>V		No	ClinGen ExAC gnomAD
CA211555745 rs955402113	326	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA377616571 rs772182328	328	E>D		No	ClinGen ExAC gnomAD
rs745625498 CA5608395	329	P>A		No	ClinGen ExAC gnomAD
CA211555735 rs77686899	330	P>S		No	ClinGen 1000Genomes
CA211555346 rs901793880	333	R>S		No	ClinGen Ensembl
CA5608381 rs536125253	334	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5608380 rs536125253	334	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5608379 rs763460034	334	R>L		No	ClinGen ExAC TOPMed gnomAD
CA211555332 rs763460034	334	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA5608378 rs760206788	335	D>V		No	ClinGen ExAC gnomAD
COSM921576 rs201829735 CA5608375	336	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5608377 rs201829735	336	R>G		No	ClinGen ExAC TOPMed gnomAD
CA5608373 rs370100508	336	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608374 rs370100508	336	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs201829735 CA5608376	336	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1288373384 CA377616368	337	D>G		No	ClinGen TOPMed gnomAD
rs1485774799 CA377616377	337	D>H		No	ClinGen gnomAD
CA377616378 rs1485774799	337	D>N		No	ClinGen gnomAD
CA5608372 rs749422835	340	S>I		No	ClinGen ExAC TOPMed
CA5608371 rs41290202	342	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756333064 CA5608370	344	E>K		No	ClinGen ExAC gnomAD
CA211555297 rs931438700	345	S>G		No	ClinGen TOPMed
CA5608366 rs369657488	354	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1286299706 CA377616111	355	L>R		No	ClinGen gnomAD
CA5608364 rs758779569	356	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766693329 CA5608365	356	R>W		No	ClinGen ExAC gnomAD
CA5608362 rs763768172	357	W>L		No	ClinGen ExAC gnomAD
CA5608361 rs371940653	358	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608360 rs775050523	359	T>I		No	ClinGen ExAC gnomAD
CA5608359 rs767147615	360	F>S		No	ClinGen ExAC TOPMed gnomAD
CA377616051 rs1564687215	361	L>S		No	ClinGen Ensembl
CA5608356 rs199504349	366	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs367739713 CA5608355	366	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5608354 rs749078769	368	E>V		No	ClinGen ExAC gnomAD
rs1251373144 CA377615999	369	D>G		No	ClinGen gnomAD
rs772948489 CA5608353	371	P>L		No	ClinGen ExAC gnomAD
rs1365413379 CA377615361	373	M>I		No	ClinGen gnomAD
rs768911824 CA5608332	377	F>S		No	ClinGen ExAC TOPMed gnomAD
CA377615264 rs747056178	378	S>*		No	ClinGen ExAC TOPMed gnomAD
rs747056178 CA5608331	378	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1387697070 CA377615254	379	Q>*		No	ClinGen gnomAD
CA5608330 rs780171436	380	T>A		No	ClinGen ExAC gnomAD
TCGA novel	380	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1455055761 CA377615217	380	T>R		No	ClinGen gnomAD
TCGA novel	381	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA211548251 rs891543142	381	V>L		No	ClinGen TOPMed
CA377615099 rs1484854928	387	G>R		No	ClinGen gnomAD
rs746372475 CA5608328	388	N>K		No	ClinGen ExAC gnomAD
CA377615060 rs1396346175	389	A>G		No	ClinGen gnomAD
TCGA novel	389	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5608326 rs377292560	390	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs779269836 CA5608327	390	D>N		No	ClinGen ExAC gnomAD
CA211548217 rs1052864003	391	K>R		No	ClinGen TOPMed
TCGA novel	392	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5608322 rs751103021	395	V>G		No	ClinGen ExAC gnomAD
rs373997810 CA5608324 CA377614927	395	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373997810 CA5608323	395	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608321 rs746632637	396	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1255561786 CA377614854	398	F>S		No	ClinGen TOPMed gnomAD
CA5608320 rs762884280	400	E>D		No	ClinGen ExAC gnomAD
rs750361835 CA5608319	402	S>F		No	ClinGen ExAC gnomAD
CA377614706 rs1282209452	404	A>S		No	ClinGen gnomAD
rs765036657 CA5608318	405	G>R		No	ClinGen ExAC gnomAD
CA377614670 rs1364326151	405	G>V		No	ClinGen gnomAD
CA5608316 COSM3935222 rs761486615	407	K>N	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC
rs752546951	408	V>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1258424862 CA377613952	408	V>I		No	ClinGen gnomAD
rs763893225 CA377613926	409	C>F		No	ClinGen ExAC gnomAD
CA5608294 rs763893225	409	C>S		No	ClinGen ExAC gnomAD
CA5608293 rs760821493	410	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5608292 rs775722887	412	I>V		No	ClinGen ExAC TOPMed gnomAD
rs767585455 CA5608291	416	N>S		No	ClinGen ExAC gnomAD
rs1424781762 CA377613725	418	N>S		No	ClinGen TOPMed
CA377613709 rs1264659172	419	P>S		No	ClinGen gnomAD
rs1242264083 CA377613666	420	E>V		No	ClinGen gnomAD
TCGA novel	421	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759512573 CA5608290	421	W>R		No	ClinGen ExAC gnomAD
CA377613624 rs1419211323	422	N>D		No	ClinGen gnomAD
rs1293599899 CA377613539	424	V>A		No	ClinGen gnomAD
rs1589502091 CA377613545	424	V>F		No	ClinGen Ensembl
CA5608288 rs771328774	425	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs771328774 CA5608289	425	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1348141600 CA377613486	426	N>S		No	ClinGen TOPMed gnomAD
CA5608265 rs766570018	433	S>L		No	ClinGen ExAC gnomAD
CA211545968 rs200666994	434	V>M		No	ClinGen gnomAD
TCGA novel	438	I>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377612697 rs1159222010	438	I>V		No	ClinGen gnomAD
rs1403084294 CA377612658	441	T>S		No	ClinGen TOPMed
CA211545960 rs369597612	442	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608241 rs766515014	445	W>C		No	ClinGen ExAC gnomAD
rs557951217 CA5608240	447	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5608239 rs750567256	447	R>H		No	ClinGen ExAC TOPMed gnomAD
rs557951217 CA377612481	447	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5608238 rs192210781	449	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762444223 CA5608237	450	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs776806303 CA5608236	451	N>S		No	ClinGen ExAC gnomAD
CA377612440 rs1167950600	453	V>E		No	ClinGen gnomAD
CA5608235 rs769071947	454	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1421423935 CA377612425	456	T>A		No	ClinGen gnomAD
CA377612424 rs1589499740	456	T>K		No	ClinGen Ensembl
CA5608234 rs759072708	457	T>A		No	ClinGen ExAC gnomAD
rs748765379 CA5608231	462	S>F		No	ClinGen ExAC gnomAD
CA5608230 rs777321633	463	K>E		No	ClinGen ExAC TOPMed gnomAD
CA377612374 rs1309739530	464	I>T		No	ClinGen gnomAD
rs769660930 CA5608229	464	I>V		No	ClinGen ExAC gnomAD
CA5608228 rs748119039	465	A>T		No	ClinGen ExAC gnomAD
rs780807262 CA5608227	466	A>V		No	ClinGen ExAC gnomAD
rs1038327877 CA211544983	470	E>K		No	ClinGen TOPMed gnomAD
rs780389296 CA5608224	473	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1290547527 CA377611342	476	S>Y		No	ClinGen TOPMed
rs1554852946 CA5608208	477	S>L		No	ClinGen Ensembl
TCGA novel	479	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377611138 rs1260691806	482	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5608204 rs758638913	483	S>L		No	ClinGen ExAC TOPMed gnomAD
CA5608203 rs746095760	484	Y>H		No	ClinGen ExAC gnomAD
rs779099736 CA5608202	485	T>I		No	ClinGen ExAC gnomAD
CA211542133 rs779099736	485	T>R		No	ClinGen ExAC gnomAD
rs1478477144 CA377610169	487	N>S		No	ClinGen TOPMed
CA5608181 rs749383351	487	N>Y		No	ClinGen ExAC gnomAD
CA5608180 rs777773447	488	T>A		No	ClinGen ExAC TOPMed gnomAD
CA377610156 rs777773447	488	T>P		No	ClinGen ExAC TOPMed gnomAD
CA5608179 rs756576134	489	G>R		No	ClinGen ExAC gnomAD
CA5608178 rs767819296	490	E>G		No	ClinGen ExAC TOPMed gnomAD
CA377610106 rs1400491803	490	E>K		No	ClinGen TOPMed
CA5608177 rs767819296	490	E>V		No	ClinGen ExAC TOPMed gnomAD
CA377610044 rs1372885399	491	T>R		No	ClinGen TOPMed
rs755311798 CA5608176	492	E>K		No	ClinGen ExAC gnomAD
rs183152242 CA5608175	493	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5608173 rs761425525 COSM1187990	497	P>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs761425525 CA5608174	497	P>S		No	ClinGen ExAC gnomAD
rs190149415 CA5608172	498	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1258290821 CA377609792	499	F>C		No	ClinGen TOPMed gnomAD
rs760652572 CA5608170	502	C>R		No	ClinGen ExAC gnomAD
rs1041029636 CA211539091	504	L>M		No	ClinGen TOPMed
rs775593848 CA5608169	505	N>K		No	ClinGen ExAC gnomAD
rs373718192 CA5608168	506	L>F		No	ClinGen ESP ExAC gnomAD
CA377609582 rs1259314239	507	Y>C		No	ClinGen gnomAD
CA377609538 rs1229246675	509	S>N		No	ClinGen gnomAD
rs759376572 CA5608167	510	P>R		No	ClinGen ExAC gnomAD
rs942696844 CA211539080	511	R>G		No	ClinGen TOPMed
rs557483069 CA5608165	512	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA211539048 rs979241860	513	Y>*		No	ClinGen TOPMed
rs374984115 CA5608163	514	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs374984115 CA5608164	514	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1462877247 CA377608900	517	P>A		No	ClinGen gnomAD
CA5608160 rs781639133	518	D>G		No	ClinGen ExAC gnomAD
rs948172754 CA211538995	520	Y>*		No	ClinGen TOPMed
CA5608158 rs765660946	520	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5608157 rs780292039	521	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1564674646 CA377608839	521	D>V		No	ClinGen Ensembl
rs1437183247 CA377608817	523	L>M		No	ClinGen gnomAD
CA377608779 rs1390784911	525	T>I		No	ClinGen TOPMed
CA377608773 rs1349065140	526	G>E		No	ClinGen gnomAD
CA5608132 rs759505575	528	G>E		No	ClinGen ExAC TOPMed gnomAD
CA211537977 rs1011162553	529	E>Q		No	ClinGen Ensembl
CA377608640 rs1564673597	530	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA377608646 rs1186263256	530	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs751474477 CA5608131	532	A>T		No	ClinGen ExAC gnomAD
CA211537962 rs900376951	533	Y>D		No	ClinGen Ensembl
rs1162200470 CA377608581	534	R>S		No	ClinGen TOPMed
rs1372160087 CA377608571	535	G>A		No	ClinGen gnomAD
rs202052471 CA377608556	536	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1345834225 CA377608548	537	I>V		No	ClinGen Ensembl
CA5608128 rs575373979	539	V>A		No	ClinGen ExAC gnomAD
CA5608127 rs765429938	541	L>I		No	ClinGen ExAC gnomAD
rs765429938 CA377608490	541	L>V		No	ClinGen ExAC gnomAD
rs1420244948 CA377608473	542	A>D		No	ClinGen gnomAD
CA377608467 rs1472723983	543	T>A		No	ClinGen Ensembl
COSM921574 rs780055290 CA5608125	543	T>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5608124 rs117595198 COSM1194059	548	T>I	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA377608370 rs117595198	548	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5608123 rs747505668	549	P>T		No	ClinGen ExAC gnomAD
rs1444885012 CA377608343	550	P>S		No	ClinGen gnomAD
rs1285777919 CA377608332	551	D>Y		No	ClinGen gnomAD
CA377608312 rs1382593951	552	K>E		No	ClinGen TOPMed
rs202186004 CA5608120	553	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs202186004 CA5608121	553	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA377608263 rs1357307784	554	L>H		No	ClinGen TOPMed
CA377608235 rs1589484127	556	P>A		No	ClinGen Ensembl
rs779480751 CA5608118	556	P>L		No	ClinGen ExAC TOPMed gnomAD
rs779480751 CA5608119	556	P>R		No	ClinGen ExAC TOPMed gnomAD
COSM466100 CA377608209 rs1237110144	557	I>T	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
CA5608116 rs747808955	559	N>S		No	ClinGen ExAC gnomAD
rs563338043 CA5608115	560	D>A		No	ClinGen 1000Genomes ExAC gnomAD
CA377608167 rs1328362139 COSM3808032	561	D>G	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5608114 rs754424095	561	D>N		No	ClinGen ExAC gnomAD
CA377608118 rs1319069231	566	E>K		No	ClinGen gnomAD
rs780961646 CA5608098	568	Y>*		No	ClinGen ExAC gnomAD
rs1415049021 CA377606288	569	Q>K		No	ClinGen gnomAD
CA5608097 rs375276858	570	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs375276858 CA5608096	570	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA5608095 rs370493284	570	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370493284 CA5608094	570	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370493284 CA5608093	570	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs367952889 CA5608091	572	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5608092 rs764965243	572	R>W		No	ClinGen ExAC TOPMed gnomAD
CA377606235 rs1439969444	574	Y>N		No	ClinGen gnomAD
CA211532697 rs76283344	574	Y>S		No	ClinGen Ensembl
CA377606147 rs565765901	579	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5608087 rs565765901	579	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1003768410 CA211532676	581	H>P		No	ClinGen gnomAD
rs1003768410 CA377606104	581	H>R		No	ClinGen gnomAD
rs759921600 CA5608085	584	T>I		No	ClinGen ExAC gnomAD
rs1589472681 CA377606035	585	M>I		No	ClinGen Ensembl
rs749082057 CA377606041	585	M>K		No	ClinGen ExAC gnomAD
rs749082057 CA5608084	585	M>T		No	ClinGen ExAC gnomAD
CA377606048 rs1360992929	585	M>V		No	ClinGen TOPMed
rs771603872 CA5608083	589	V>A		No	ClinGen ExAC gnomAD
rs773769849 CA5608080	591	E>D		No	ClinGen ExAC TOPMed gnomAD
rs763405795 CA5608081	591	E>K		No	ClinGen ExAC gnomAD
rs1166465677 CA377605911	592	A>D		No	ClinGen gnomAD
rs906786201 CA211532624	593	I>V		No	ClinGen TOPMed gnomAD
CA377605887 rs1406580055	594	Q>E		No	ClinGen gnomAD
CA5608079 rs768132180	596	E>Q		No	ClinGen ExAC gnomAD
rs1239197389 CA377605792	599	I>T		No	ClinGen gnomAD
rs1278290684 CA377605775	600	G>A		No	ClinGen TOPMed
rs1213398861 CA377605786	600	G>R		No	ClinGen gnomAD
CA377605739 rs1467316480	602	Y>F		No	ClinGen gnomAD
CA5608078 rs374477739	604	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1280077440 CA377605664	606	F>L		No	ClinGen TOPMed
CA5608076 rs371276370	608	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1282189695 CA377605618	609	T>I		No	ClinGen gnomAD
CA5608075 rs751336447	610	C>Y		No	ClinGen ExAC gnomAD
CA377605579 rs1309718029	612	P>L		No	ClinGen gnomAD
CA5608074 rs745434615	612	P>T		No	ClinGen ExAC gnomAD
CA5608073 rs778793669	614	A>T		No	ClinGen ExAC gnomAD
rs1209636563 CA377605549	615	S>P		No	ClinGen TOPMed
rs757256845 CA5608072	617	T>A		No	ClinGen ExAC TOPMed gnomAD
rs2298154 CA5608071	621	R>C		No	ClinGen ExAC TOPMed gnomAD
rs376117217 CA5608070	621	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs752996731 CA5608069	622	A>P		No	ClinGen ExAC TOPMed gnomAD
rs752996731 CA377605272	622	A>S		No	ClinGen ExAC TOPMed gnomAD
rs752996731 CA5608068	622	A>T		No	ClinGen ExAC TOPMed gnomAD
CA377605217 rs1192886702	623	V>A		No	ClinGen TOPMed
CA377605163 rs1381409179	625	D>G		No	ClinGen gnomAD
CA5608066 rs759656494	625	D>N		No	ClinGen ExAC gnomAD
CA5608032 rs780862055	626	G>D		No	ClinGen ExAC gnomAD
CA211532564 rs777498944	626	G>S		No	ClinGen Ensembl
CA377604064 rs1285066944	627	N>I		No	ClinGen TOPMed
CA377604043 rs1371670434	628	Y>C		No	ClinGen gnomAD
rs1478243384 CA377604023	629	Y>C		No	ClinGen gnomAD
CA5608031 rs775276108	629	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs369605331 CA5608029	631	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA377603928 rs1258247166	634	W>*		No	ClinGen gnomAD
CA5608026 rs765772757	637	T>I		No	ClinGen ExAC gnomAD
CA211531786 rs746189227	638	K>T		No	ClinGen Ensembl
CA377603859 rs1190686975	639	P>T		No	ClinGen TOPMed
rs759182355 CA5608025	640	V>A		No	ClinGen ExAC gnomAD
rs754176397 CA5608024	641	V>I		No	ClinGen ExAC gnomAD
rs1318096554 CA377603805	642	T>I		No	ClinGen gnomAD
rs759149256 CA5608022	645	S>L		No	ClinGen ExAC gnomAD
CA211531771 rs774016445	646	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5608021 rs774016445	646	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs766070778 CA5608020	647	W>C		No	ClinGen ExAC TOPMed gnomAD
rs1260555803 CA377603731	647	W>R		No	ClinGen TOPMed gnomAD
CA377603689 rs1394812047	649	D>A		No	ClinGen TOPMed gnomAD
CA377603687 rs1394812047	649	D>G		No	ClinGen TOPMed gnomAD
rs776154312 CA211531762	649	D>Y		No	ClinGen gnomAD
rs1317220413 CA377603666	650	I>T		No	ClinGen TOPMed
CA377603649 rs1291332519	651	S>I		No	ClinGen TOPMed
COSM3358911 CA377603651 rs1291332519	651	S>N	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA377603648 rs1466340834	651	S>R		No	ClinGen gnomAD
CA377603635 rs1393946195	653	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs377141585 CA5608019	653	R>H		No	ClinGen ESP ExAC gnomAD
rs377141585 CA377603634	653	R>P		No	ClinGen ESP ExAC gnomAD
CA377603615 rs1473853958	656	A>T		No	ClinGen gnomAD
rs772654380 CA5608018	656	A>V		No	ClinGen ExAC TOPMed gnomAD
CA377603593 rs1564665898	657	V>A		No	ClinGen Ensembl
rs769713940 CA5608017	658	N>S		No	ClinGen ExAC TOPMed gnomAD
rs776523451 CA377603562	659	T>A		No	ClinGen ExAC gnomAD
rs776523451 CA5608015	659	T>P		No	ClinGen ExAC gnomAD
rs1285658739 CA377603558	659	T>S		No	ClinGen TOPMed
rs746847097 CA5608013	662	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5608011 rs772491610	664	A>V		No	ClinGen ExAC gnomAD
CA377603466 rs372369806	666	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs202150335 CA211531715	666	R>Q		No	ClinGen Ensembl
CA5608009 rs372369806	666	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5608008 rs757720421	667	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA377603193 rs1361477768	668	Q>K		No	ClinGen TOPMed
CA377603150 rs1380672175	671	I>T		No	ClinGen gnomAD
CA377603093 rs1229120466	675	K>N		No	ClinGen TOPMed
CA211530435 rs1040265215	677	G>E		No	ClinGen TOPMed
rs1478813311 CA377603044	679	Q>*		No	ClinGen TOPMed gnomAD
rs944627903 CA211530428	679	Q>H		No	ClinGen TOPMed
CA5607985 rs114288940	680	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377603020 rs1489563624	681	K>E		No	ClinGen TOPMed
rs1264675064 CA377602983	683	P>L		No	ClinGen gnomAD
rs1487044466 CA377602990	683	P>T		No	ClinGen gnomAD
rs1218013539 CA377602951	686	Q>*		No	ClinGen gnomAD
rs758029068 CA5607984	687	L>M		No	ClinGen ExAC TOPMed gnomAD
rs367618675 CA5607983	688	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs549188270 CA5607982	689	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1217009739 CA377602865	692	L>R		No	ClinGen gnomAD
CA377602830 rs753463311	695	I>R		No	ClinGen ExAC gnomAD
CA5607980 rs753463311	695	I>T		No	ClinGen ExAC gnomAD
CA377602820 rs1383154494	696	D>G		No	ClinGen TOPMed
rs566519894 CA211530394	697	E>*		No	ClinGen TOPMed
rs1044738466 CA211530391	697	E>G		No	ClinGen TOPMed
rs375539225 CA5607979	702	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs375539225 CA377602756	702	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316246525 CA377602753	703	R>K		No	ClinGen TOPMed
CA5607957 rs756082794	705	T>A		No	ClinGen ExAC TOPMed gnomAD
rs150897152 RCV000882388 COSM1197135 CA5607956	705	T>M	lung [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759222296 CA5607954	706	L>F		No	ClinGen ExAC gnomAD
rs1251026267 CA377601869	707	P>L		No	ClinGen gnomAD
CA377601832 rs973995903	709	T>I		No	ClinGen TOPMed gnomAD
rs973995903 CA211529368	709	T>R		No	ClinGen TOPMed gnomAD
TCGA novel	709	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377601825 rs1379711341	710	E>Q		No	ClinGen gnomAD
CA5607952 rs766452027	712	K>E		No	ClinGen ExAC TOPMed gnomAD
rs572081809 CA5607951	713	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA377601735 rs1378801121	713	A>T		No	ClinGen gnomAD
rs552853081 CA5607950	714	N>S		No	ClinGen 1000Genomes ExAC gnomAD
rs752752770 CA211529351	715	V>I		No	ClinGen gnomAD
CA377601582 rs776968617	719	D>H		No	ClinGen ExAC TOPMed gnomAD
rs776968617 CA5607947	719	D>N		No	ClinGen ExAC TOPMed gnomAD
CA377601581 rs776968617	719	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA377601518 rs1448006241	721	Q>E		No	ClinGen TOPMed
CA5607945 rs747320460	721	Q>P		No	ClinGen ExAC gnomAD
CA377601466 rs1279602774	722	I>V		No	ClinGen TOPMed
COSM921573 CA5607944 rs780482700	723	R>*	large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
rs372783757 CA5607943	723	R>Q		No	ClinGen ESP ExAC gnomAD
CA5607942 rs765235466	725	L>P		No	ClinGen ExAC gnomAD
rs41296137 CA5607940	726	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs777374013 CA5607941	726	R>W		No	ClinGen ExAC TOPMed gnomAD
CA377601306 rs1237846617	728	R>G		No	ClinGen gnomAD
rs767353059 CA5607938	728	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5607937 rs755002692	729	S>C		No	ClinGen ExAC gnomAD
CA5607936 rs185991858	730	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM368283 CA377601240 rs1294911147	732	Q>*	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA377601198 rs1436655627	734	H>Y		No	ClinGen gnomAD
CA377601169 rs1359314395	735	E>K		No	ClinGen gnomAD
rs376035746 CA5607935	736	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA377601074 rs1175709294	737	A>D		No	ClinGen gnomAD
rs1051669851 CA211529282	737	A>T		No	ClinGen Ensembl
rs1427595385 CA377601051	738	V>A		No	ClinGen gnomAD
rs773397301 CA5607932	739	R>M		No	ClinGen ExAC gnomAD
rs765479645 CA5607931	740	M>I		No	ClinGen ExAC
CA211529270 rs932969030	741	R>K		No	ClinGen TOPMed gnomAD
rs761873899 CA5607930	741	R>S		No	ClinGen ExAC TOPMed gnomAD
rs768988755 CA5607928	742	S>*		No	ClinGen ExAC TOPMed gnomAD
rs768988755 CA377600903 COSM921572	742	S>L	Variant assessed as Somatic; 0.0 impact. liver endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs768988755 CA5607929	742	S>W		No	ClinGen ExAC TOPMed gnomAD
CA5607926 rs775681169	743	E>K		No	ClinGen ExAC gnomAD
rs200759651 CA5607925	744	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA211529236 rs1036499868	746	D>N		No	ClinGen TOPMed gnomAD
rs747600585 CA5607921	754	I>T		No	ClinGen ExAC gnomAD
CA5607920 rs548233193	755	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377600464 rs1407409283	756	D>E		No	ClinGen TOPMed
CA5607919 rs754830686	757	W>*		No	ClinGen ExAC gnomAD
rs1477597971 CA377600442	757	W>C		No	ClinGen TOPMed gnomAD
TCGA novel	759	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5607918 rs377208296	759	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs377208296 CA377600416	759	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1195864171 CA377600385	760	K>Q		No	ClinGen TOPMed gnomAD
CA377600353 rs1589460877	761	L>I		No	ClinGen Ensembl
CA377600302 rs1199777191	763	Q>E		No	ClinGen gnomAD
rs762033516 CA5607913	766	E>G		No	ClinGen ExAC gnomAD
rs774814427 CA5607889	770	N>Y		No	ClinGen ExAC gnomAD
CA5607888 rs766869590	771	S>G		No	ClinGen ExAC gnomAD
CA5607887 rs763272939	772	M>I		No	ClinGen ExAC gnomAD
rs1438894088 CA377598506	775	I>N		No	ClinGen TOPMed gnomAD
rs776312152 CA5607886	775	I>V		No	ClinGen ExAC gnomAD
CA5607885 rs200816517	776	I>N		No	ClinGen 1000Genomes ExAC gnomAD
rs200816517 CA5607884	776	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA377598448 rs1180161264	777	I>T		No	ClinGen gnomAD
CA377598392 rs1266074857	778	W>*		No	ClinGen gnomAD
rs1437985528 CA377598416	778	W>*		No	ClinGen gnomAD
CA211528318 rs774992910	781	R>G		No	ClinGen ExAC TOPMed gnomAD
rs201519499 CA5607882	781	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5607883 rs774992910	781	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs534145089 CA5607881	783	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377598237 rs1311861752	785	R>G		No	ClinGen gnomAD
CA377598135 rs757054211	788	Y>*		No	ClinGen ExAC gnomAD
rs778632068 CA5607880	788	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA377598107 rs1321810126	789	A>V		No	ClinGen gnomAD
CA5607877 COSM1216482 rs778056638	790	R>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs752769187 CA5607875	792	P>R		No	ClinGen ExAC gnomAD
rs756351838 CA5607876	792	P>T		No	ClinGen ExAC TOPMed gnomAD
rs551469563 CA377598044	793	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs551469563 CA5607872	793	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5607873 rs551469563	793	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5607871 rs766831576	793	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs968165867 CA211528262	794	H>Y		No	ClinGen gnomAD
rs1376781682 CA377597986	795	Q>P		No	ClinGen gnomAD
rs1376781682 CA377597985	795	Q>R		No	ClinGen gnomAD
rs368757003 CA5607870	796	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs763743604 CA5607868	797	L>F		No	ClinGen ExAC gnomAD
rs867784749 CA211528231	798	Y>C		No	ClinGen Ensembl
CA377597942 rs1268919529	798	Y>N		No	ClinGen TOPMed gnomAD
rs188161939 CA211528220	799	S>T		No	ClinGen 1000Genomes
CA5607867 rs537989767	800	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5607866 rs774943601	801	S>N		No	ClinGen ExAC TOPMed gnomAD
CA377597869 rs1564659266	801	S>R		No	ClinGen Ensembl
CA5607865 rs771594194	802	G>S		No	ClinGen ExAC gnomAD
TCGA novel	803	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs569246757 CA5607863	804	N>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1235663636 COSM921570 CA377597790	805	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
TCGA novel	810	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA211528190 rs781631923	812	K>E		No	ClinGen Ensembl
CA211528185 rs529254844	812	K>R		No	ClinGen 1000Genomes
rs749099106 CA5607860	814	Q>*		No	ClinGen ExAC gnomAD
rs1433578104 CA377597720	816	I>V		No	ClinGen TOPMed
rs943447270 CA377597713	817	F>L		No	ClinGen TOPMed gnomAD
CA211528178 rs943447270	817	F>V		No	ClinGen TOPMed gnomAD
rs1564659172 CA377597705	818	L>Q		No	ClinGen Ensembl
CA5607841 rs539196009	820	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762806836 CA5607842	820	Y>H		No	ClinGen ExAC gnomAD
rs1302116278 CA377596614	821	P>T		No	ClinGen TOPMed
CA377596579 rs1236102950	823	E>K		No	ClinGen gnomAD
CA211526810 rs374782874	825	N>K		No	ClinGen ESP
rs781556768 CA5607838	825	N>S		No	ClinGen ExAC
rs776353584	825	N>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA377596520 rs1296187985	826	N>D		No	ClinGen TOPMed
rs1237845380 CA377596514	826	N>S		No	ClinGen gnomAD
rs1273755491 CA377596491	827	G>A		No	ClinGen gnomAD
COSM1506432 rs149848851 CA5607835	827	G>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA377596482 rs1323537891	828	P>A		No	ClinGen TOPMed
CA5607833 rs750918061	829	K>*		No	ClinGen ExAC gnomAD
CA5607832 rs750918061	829	K>E		No	ClinGen ExAC gnomAD
rs779524437 CA5607831	829	K>N		No	ClinGen ExAC gnomAD
CA377596428 rs1488772623	831	P>L		No	ClinGen TOPMed
CA5607829 rs377167806	831	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5607830 rs377167806	831	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5607828 rs767147149	834	L>V		No	ClinGen ExAC gnomAD
rs759204281 CA5607827	835	R>*		No	ClinGen ExAC gnomAD
CA5607825 rs373363357	835	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373363357 CA5607826	835	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA377596358 rs1286306279	836	V>G		No	ClinGen TOPMed gnomAD
rs1182898502 CA377596328	838	I>N		No	ClinGen TOPMed
CA377596334 rs1485752428	838	I>V		No	ClinGen TOPMed
CA377596294 rs1366541906	840	L>I		No	ClinGen Ensembl
CA5607823 rs772989154	841	G>C		No	ClinGen ExAC gnomAD
CA377596269 rs1404231210	841	G>V		No	ClinGen gnomAD
CA377596246 rs761683303	842	L>F		No	ClinGen ExAC gnomAD
rs1421522387 CA377596220	844	A>P		No	ClinGen TOPMed
rs1380023570 CA377596211	844	A>V		No	ClinGen gnomAD
rs1459207810 CA377596194	845	V>G		No	ClinGen gnomAD
rs776580422 CA5607820	846	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1421070797 CA377596136	848	K>N		No	ClinGen TOPMed
CA5607819 rs768932050	849	F>I		No	ClinGen ExAC
rs768932050 CA5607817	849	F>L		No	ClinGen ExAC
rs1344338575 CA377596105	850	N>I		No	ClinGen TOPMed
CA5607816 rs762516565	851	S>R		No	ClinGen ExAC gnomAD
CA211526737 rs1018915257	853	A>P		No	ClinGen Ensembl
rs1018915257 CA211526740	853	A>T		No	ClinGen Ensembl
CA377596059 rs1287691970	853	A>V		No	ClinGen gnomAD
rs1248046585 CA377596031	856	T>A		No	ClinGen gnomAD
CA377596022 rs1359912091	857	F>Y		No	ClinGen gnomAD
CA5607813 rs746002591	859	V>I		No	ClinGen ExAC gnomAD
CA5607812 rs370253135	860	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs754147200 CA5607810	862	E>D		No	ClinGen ExAC gnomAD
CA5607809 rs377741160	863	M>T		No	ClinGen ESP ExAC gnomAD
TCGA novel	864	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377633698 rs1412942281	864	Y>H		No	ClinGen gnomAD
rs1431545777 CA377633687	865	E>G		No	ClinGen gnomAD
TCGA novel	866	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	866	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5607788 rs758080232	867	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA377633667 rs1262438359	868	A>P		No	ClinGen gnomAD
CA377633665 rs1191389246	868	A>V		No	ClinGen gnomAD
CA5607787 rs749835033	869	L>V		No	ClinGen ExAC gnomAD
rs1208997128 CA377633651	870	M>I		No	ClinGen TOPMed gnomAD
TCGA novel CA5607786 rs764871330	870	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs764871330 CA377633657	870	M>V		No	ClinGen ExAC gnomAD
rs757210457 CA5607785	872	G>E		No	ClinGen ExAC gnomAD
CA5607784 rs753802404	874	W>*		No	ClinGen ExAC gnomAD
rs1264600502 CA377633625	874	W>*		No	ClinGen TOPMed gnomAD
rs1264600502 CA377633624	874	W>S		No	ClinGen TOPMed gnomAD
CA5607783 rs764168365	875	G>V		No	ClinGen ExAC TOPMed gnomAD
CA377633606 rs1177046973	877	S>F		No	ClinGen TOPMed
rs1361191836 CA377633600	878	G>E		No	ClinGen TOPMed
CA5607780 rs372097157	882	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA211548186 rs974756123	882	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs774378269 CA5607778	883	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5607779 rs759812186	883	H>Y		No	ClinGen ExAC gnomAD
CA5607777 rs749421938	884	K>M		No	ClinGen ExAC gnomAD
rs749421938 CA5607776	884	K>T		No	ClinGen ExAC gnomAD
rs773701879 CA5607775	887	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1275033627 CA377633479	897	E>K		No	ClinGen TOPMed
CA377633445 rs1483934996	901	P>L		No	ClinGen TOPMed
TCGA novel	904	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5607771 rs770387435	906	E>D		No	ClinGen ExAC gnomAD
rs1181127451 CA377633411	906	E>G		No	ClinGen gnomAD
rs1244634914 CA377633407	907	W>R		No	ClinGen TOPMed gnomAD
rs1006631545 CA211548136	908	E>K		No	ClinGen TOPMed
rs1472305469 CA377633382	910	E>G		No	ClinGen TOPMed
CA377633374 rs1215484175	911	W>*		No	ClinGen TOPMed gnomAD
rs1215484175 CA377633373	911	W>C		No	ClinGen TOPMed gnomAD
TCGA novel	911	W>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5607770 rs748399815	911	W>R		No	ClinGen ExAC gnomAD
CA5607769 rs781620244	911	W>S		No	ClinGen ExAC gnomAD
rs1175664766 CA377633369	912	I>K		No	ClinGen TOPMed
rs368803942 CA5607768	912	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1337228576 CA377633365	913	V>L		No	ClinGen Ensembl
CA5607765 rs756798158	917	R>S		No	ClinGen ExAC gnomAD
rs374461794 CA5607766	917	R>T		No	ClinGen ExAC TOPMed gnomAD
CA377633328 rs1371526315	918	S>N		No	ClinGen TOPMed
CA5607742 rs781043893	919	L>F		No	ClinGen ExAC gnomAD
CA5607739 rs371075702	922	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs751410425 CA5607740	922	E>G		No	ClinGen ExAC gnomAD
CA5607737 rs750458434	923	A>E		No	ClinGen ExAC gnomAD
rs1051024486 CA211546173	925	A>S		No	ClinGen Ensembl
CA377633179 rs1419175588	925	A>V		No	ClinGen gnomAD
rs1589446463 CA377633168	927	H>P		No	ClinGen Ensembl
CA5607736 rs765380031	928	T>A		No	ClinGen ExAC
rs142449029 CA5607735	928	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377633160 rs142449029	928	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769111257 CA5607733	929	E>V		No	ClinGen ExAC gnomAD
CA377633144 rs1589446430	931	T>P		No	ClinGen Ensembl
CA5607731 rs776010783	932	D>G		No	ClinGen ExAC TOPMed gnomAD
rs761109116 CA5607732	932	D>N		No	ClinGen ExAC gnomAD
rs1421931565 CA377633120	934	V>A		No	ClinGen TOPMed gnomAD
CA377633115 rs1233453291	935	Y>C		No	ClinGen TOPMed
rs778186481 CA211546101	935	Y>D		No	ClinGen Ensembl
rs770641287 CA5607730	936	Q>H		No	ClinGen ExAC gnomAD
rs1348940547 CA377633108	936	Q>R		No	ClinGen gnomAD
CA377633098 rs200009633	937	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777103150 CA5607728	938	E>K		No	ClinGen ExAC TOPMed gnomAD
CA211546058 rs751982838	939	S>R		No	ClinGen gnomAD
rs1249711865 CA377633085	939	S>T		No	ClinGen TOPMed
CA5607726 rs781172109	940	R>C		No	ClinGen ExAC TOPMed gnomAD
rs781172109 CA377633082	940	R>G		No	ClinGen ExAC TOPMed gnomAD
rs770604304 CA5607724	940	R>H	Variant assessed as Somatic; 4.641e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs770604304 CA377633080	940	R>L		No	ClinGen ExAC TOPMed gnomAD
rs781172109 CA5607725	940	R>S		No	ClinGen ExAC TOPMed gnomAD
CA5607722 rs779852892	941	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs746735595 CA5607723	941	Y>C		No	ClinGen ExAC gnomAD
CA377633076 rs746735595	941	Y>S		No	ClinGen ExAC gnomAD
rs1196732702 CA377633065	943	G>E		No	ClinGen gnomAD
rs750634151 CA5607720	943	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5607719 rs765417284	944	G>A		No	ClinGen ExAC gnomAD
CA211546029 rs765417284	944	G>D		No	ClinGen ExAC gnomAD
CA5607717 rs139065987	945	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs761270542 CA5607715	946	W>*		No	ClinGen ExAC
CA5607716 rs764604249	946	W>*		No	ClinGen ExAC TOPMed gnomAD
CA211546010 rs981663769	948	P>L		No	ClinGen gnomAD
TCGA novel	948	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5607713 rs768018859	949	A>T		No	ClinGen ExAC TOPMed gnomAD
COSM1297509 CA5607712 rs188501773	950	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA5607711 rs772894524	952	T>S		No	ClinGen ExAC TOPMed gnomAD
CA377633001 rs1363927683	953	Y>S		No	ClinGen TOPMed
rs555130930 CA5607709	954	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs1382563621 CA377632982	956	A>E		No	ClinGen TOPMed gnomAD
rs1382563621 CA377632980	956	A>V		No	ClinGen TOPMed gnomAD
rs1439604534	957	N>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs200007562 CA5607682	958	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1027205626 CA211543998	959	D>G		No	ClinGen Ensembl
CA5607680 rs755453390	959	D>H		No	ClinGen ExAC TOPMed gnomAD
CA211544003 rs755453390	959	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1247730185 CA377632932	962	A>G		No	ClinGen gnomAD
CA5607679 rs778192419	962	A>T		No	ClinGen ExAC gnomAD
rs1247730185 CA377632930	962	A>V		No	ClinGen gnomAD
rs756233987 CA5607678	964	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5607677 rs752895736	965	S>G		No	ClinGen ExAC gnomAD
rs1002138375 CA211543981	965	S>N		No	ClinGen TOPMed gnomAD
rs754385720 CA5607675	966	E>K		No	ClinGen ExAC gnomAD
CA5607673 rs766673403	967	L>V		No	ClinGen ExAC gnomAD
rs763420903 CA5607672	968	T>I		No	ClinGen ExAC gnomAD
rs1445620165 CA377632878	969	C>R		No	ClinGen gnomAD
rs998400729 CA211543945	969	C>S		No	ClinGen TOPMed
rs763801361 CA5607670	971	P>A		No	ClinGen ExAC TOPMed gnomAD
CA211543941 rs763801361	971	P>S		No	ClinGen ExAC TOPMed gnomAD
rs572713143 CA5607667	972	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs572713143 CA377632838	972	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5607668 rs540652536	972	G>S		No	ClinGen 1000Genomes ExAC gnomAD
rs572713143 CA377632835	972	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377632740 rs1224531354	978	D>H		No	ClinGen gnomAD
rs1224531354 CA377632741	978	D>N		No	ClinGen gnomAD
rs770613470 CA5607663	978	D>V		No	ClinGen ExAC TOPMed gnomAD
CA5607662 rs749150211	979	A>T		No	ClinGen ExAC gnomAD
rs201932767 CA5607661	980	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA211543907 CA377632650 rs1013663967	982	Y>*		No	ClinGen TOPMed gnomAD
rs1381259728 CA377632606	985	N>K		No	ClinGen TOPMed
rs748167650 CA5607659	986	R>*		No	ClinGen ExAC gnomAD
rs748167650 CA5607660 COSM921568	986	R>G	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs374817796 CA377632597	986	R>L		No	ClinGen ESP TOPMed
rs374817796 CA211543876	986	R>Q		No	ClinGen ESP TOPMed
rs371303456 CA5607658 COSM921567	987	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs755460626 CA5607657	988	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1354300910 CA377632572	989	D>V		No	ClinGen TOPMed
CA5607635 rs779282605	992	G>A		No	ClinGen ExAC gnomAD
CA5607634 rs755716005	993	W>G		No	ClinGen ExAC gnomAD
rs1242392538 CA377632068	994	E>K		No	ClinGen gnomAD
CA5607633 rs375289964	995	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459616531 CA377632016	996	G>E		No	ClinGen gnomAD
rs989411289 CA211542720	1002	D>H		No	ClinGen TOPMed
CA377631896 rs1564648113	1003	H>R		No	ClinGen Ensembl
rs544973438 CA5607632	1004	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371910567 CA211542705	1009	V>I		No	ClinGen ESP
rs751142952 CA5607631	1010	A>E		No	ClinGen ExAC TOPMed gnomAD
CA211542704 rs921920904	1010	A>T		No	ClinGen gnomAD
rs751142952 CA5607630	1010	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1011	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5607629 rs754564361	1012	E>A		No	ClinGen ExAC TOPMed gnomAD
CA377631761 rs1291144929	1014	M>T		No	ClinGen Ensembl
CA211542688 rs980089196	1016	H>P		No	ClinGen TOPMed gnomAD
CA5607627 rs773088992	1016	H>Y		No	ClinGen ExAC gnomAD
CA211542684 rs974781252	1018	H>R		No	ClinGen TOPMed gnomAD
CA5607625 rs761738450 COSM3397307	1020	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5607626 rs200551316	1020	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5607624 rs766517143	1021	R>*		No	ClinGen ExAC TOPMed gnomAD
CA377631619 rs375030658	1021	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5607623 rs375030658	1021	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs747001974 CA5607622	1022	R>K		No	ClinGen ExAC TOPMed gnomAD
rs775643885 CA5607621	1025	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1349860 rs370328569 CA5607620	1025	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA211542643 rs376993570	1026	K>Q		No	ClinGen ESP
rs1246113446 CA377631534	1026	K>T		No	ClinGen TOPMed
CA5607619 rs542817561	1027	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA211542637 rs1027491134	1027	R>H		No	ClinGen gnomAD
CA5607618 rs573857080	1031	L>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5607617 rs184380945	1032	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1308479062 CA377631410	1034	T>I		No	ClinGen gnomAD
CA377631413 rs1308479062	1034	T>N		No	ClinGen gnomAD
rs1314719251 CA377631405	1035	A>S		No	ClinGen TOPMed gnomAD
rs1314719251 CA377631408	1035	A>T		No	ClinGen TOPMed gnomAD
CA5607615 rs375435845	1036	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA377631381 rs754676508	1037	S>N		No	ClinGen ExAC TOPMed gnomAD
CA5607614 rs754676508	1037	S>T		No	ClinGen ExAC TOPMed gnomAD
CA377631370 rs1390944988	1038	T>S		No	ClinGen gnomAD
CA377631366 rs1394366928	1038	T>S		No	ClinGen gnomAD
rs973303600 CA211542577	1039	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5607612 rs765932650	1040	R>S		No	ClinGen ExAC gnomAD
rs752935329 CA211540016	1042	M>L		No	ClinGen ExAC TOPMed gnomAD
rs752935329 CA5607582	1042	M>V		No	ClinGen ExAC TOPMed gnomAD
CA377630752 rs1346503310	1044	E>G		No	ClinGen TOPMed
CA5607580 rs759601045	1045	L>S		No	ClinGen ExAC TOPMed
rs774431127 CA5607579	1046	Q>*		No	ClinGen ExAC gnomAD
rs763551395 CA377630661	1050	G>A		No	ClinGen ExAC TOPMed gnomAD
rs763551395 CA5607577	1050	G>D		No	ClinGen ExAC TOPMed gnomAD
CA211539944 rs369032210	1051	W>*		No	ClinGen ESP TOPMed gnomAD
rs753422189 CA211539938	1052	E>D		No	ClinGen gnomAD
CA377630643 rs1282584725	1052	E>K		No	ClinGen gnomAD
rs765744662 CA5607576	1053	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA377630600 rs1323901406	1055	S>A		No	ClinGen TOPMed gnomAD
CA377630593 rs1381435189	1055	S>F		No	ClinGen gnomAD
CA377630603 rs1323901406	1055	S>T		No	ClinGen TOPMed gnomAD
CA377630570 rs1427943675	1057	I>M		No	ClinGen gnomAD
CA377630574 rs1457333632	1057	I>T		No	ClinGen gnomAD
CA5607574 COSM71768 rs748524728	1057	I>V	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs779837165 CA5607573	1059	W>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1060	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868509250 CA211539888	1062	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA377630523 rs1481674170	1063	W>R		No	ClinGen gnomAD
CA377630495 rs1471525363	1065	Q>P		No	ClinGen gnomAD
rs988938942 CA211539867	1066	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778596902 CA5607570	1066	R>S		No	ClinGen ExAC gnomAD
rs372632688 CA5607569	1067	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5607567 rs777611977	1069	D>G		No	ClinGen ExAC TOPMed gnomAD
CA377630417 rs566503018	1070	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377630421 rs1589437105	1070	T>P		No	ClinGen Ensembl
CA5607566 rs566503018	1070	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5607565 rs201916621	1072	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5607564 rs767672177	1072	R>H		No	ClinGen ExAC TOPMed gnomAD
CA377630378 rs1231401623	1073	R>C		No	ClinGen TOPMed
CA5607563 rs755201286	1073	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5607562 rs181998538	1075	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs766420687 CA5607561	1075	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs766420687 CA211539774	1075	R>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1077	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1435285393 CA377630253	1080	M>I		No	ClinGen gnomAD
CA377630243 rs1404743834	1081	A>S		No	ClinGen gnomAD
rs1480179186 CA377630241	1081	A>V		No	ClinGen TOPMed
CA5607560 rs200778017	1082	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5607558 rs765720052	1086	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5607557 rs762176707	1089	A>V		No	ClinGen ExAC gnomAD
CA377630125 rs1375098457	1090	A>T		No	ClinGen gnomAD
rs771810123 CA5607555	1091	I>V		No	ClinGen ExAC gnomAD
CA5607554 rs375203628	1097	A>G		No	ClinGen ESP ExAC gnomAD
CA377629183 CA377629190 rs1289165932	1099	G>R		No	ClinGen gnomAD
rs376425632 CA211538925	1101	D>G		No	ClinGen ESP
rs777087223 CA5607535	1104	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1439376551 CA377629022	1105	D>N		No	ClinGen gnomAD
rs1352935660 CA377629007	1105	D>V		No	ClinGen TOPMed gnomAD
CA5607534 rs764531957	1107	D>N		No	ClinGen ExAC gnomAD
CA211538899 rs966416749	1110	S>I		No	ClinGen TOPMed gnomAD
CA211538898 rs931776892	1110	S>R		No	ClinGen TOPMed gnomAD
CA5607531 rs774143580	1112	E>Q		No	ClinGen ExAC TOPMed
CA377628794 rs1406113949	1113	K>R		No	ClinGen gnomAD
rs532323862 CA5607530	1114	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs976983235 CA377628766	1114	Q>H		No	ClinGen TOPMed
rs759818046 CA5607529	1116	H>D		No	ClinGen ExAC TOPMed gnomAD
CA5607528 rs772605322	1119	T>S		No	ClinGen ExAC gnomAD
rs748110965 CA377628548	1123	G>*		No	ClinGen ExAC TOPMed gnomAD
CA5607526 rs748110965	1123	G>R		No	ClinGen ExAC TOPMed gnomAD
rs781160518 CA5607525	1124	A>E		No	ClinGen ExAC gnomAD
CA377628534 rs1266422035	1124	A>T		No	ClinGen TOPMed gnomAD
rs1283113533 CA377628454	1127	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5607522 rs780257940	1128	I>V		No	ClinGen ExAC gnomAD
CA5607521 rs544139761 COSM1722307	1130	S>F	NS [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA377628356 rs1396535711	1131	C>*		No	ClinGen TOPMed gnomAD
rs1223360710 CA377628298	1133	F>S		No	ClinGen gnomAD
rs982724325 CA211538819	1135	R>G		No	ClinGen Ensembl
rs149298698 CA5607491	1135	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000956849 CA5607490 rs36032890 VAR_049058	1136	V>I		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA377627930 rs1404689933	1137	Y>H		No	ClinGen TOPMed
CA5607488 rs753054190	1140	H>R		No	ClinGen ExAC TOPMed gnomAD
COSM3808023 rs543442746 CA5607485	1142	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs199761118 CA5607484	1142	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761250319 COSM540111 CA5607483	1143	C>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs776134104 CA5607482	1144	Y>C		No	ClinGen ExAC gnomAD
rs1211397108 CA377627778	1144	Y>H		No	ClinGen gnomAD
rs760639207 CA377627756	1145	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760639207 CA5607480	1145	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5607479 rs775539463	1146	Y>C		No	ClinGen ExAC gnomAD
rs1589433616 CA377627747	1146	Y>N		No	ClinGen Ensembl
CA377627717 rs1450604724	1147	Q>E		No	ClinGen gnomAD
CA5607478 rs771742038	1149	R>I		No	ClinGen ExAC TOPMed
rs1386066023 CA377627645	1150	N>I		No	ClinGen gnomAD
rs1381377728 CA377627639	1150	N>K		No	ClinGen TOPMed gnomAD
CA5607477 rs745733559	1151	L>V		No	ClinGen ExAC gnomAD
rs1466432949 CA377627581	1153	A>T		No	ClinGen gnomAD
rs1589433559 CA377627575	1153	A>V		No	ClinGen Ensembl
CA211537296 rs575435504	1155	D>H		No	ClinGen ExAC TOPMed gnomAD
CA5607476 rs575435504	1155	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1155	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1431365033 CA377627477	1157	D>N		No	ClinGen TOPMed gnomAD
rs1431365033 CA377627480	1157	D>Y		No	ClinGen TOPMed gnomAD
rs1390451866 CA377627442	1158	S>N		No	ClinGen gnomAD
CA377627381 rs1421582326	1161	D>N		No	ClinGen gnomAD
CA377627368 rs1421582326	1161	D>Y		No	ClinGen gnomAD
rs777087227 CA5607451	1163	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs1286408092 CA377626166	1164	A>T		No	ClinGen TOPMed gnomAD
rs781488723 CA5607450	1164	A>V		No	ClinGen ExAC TOPMed gnomAD
CA211532652 rs967246818	1165	H>L		No	ClinGen TOPMed
CA211532655 rs531896822	1165	H>Y		No	ClinGen 1000Genomes TOPMed
CA5607447 rs376843240	1166	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1166	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1222195527 CA377626130	1166	I>N		No	ClinGen TOPMed
CA5607446 rs758803900	1167	C>R		No	ClinGen ExAC TOPMed gnomAD
rs957044845 CA211532614	1167	C>Y		No	ClinGen TOPMed gnomAD
CA377626091 rs1293732224	1168	F>Y		No	ClinGen gnomAD
rs529445117 CA5607445	1171	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760306736 CA211532600	1171	R>L		No	ClinGen ExAC TOPMed gnomAD
CA5607443 rs760306736	1171	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs529445117 CA5607444	1171	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1235042489 CA377626047	1172	S>N		No	ClinGen TOPMed
CA211532589 rs893038230	1172	S>R		No	ClinGen TOPMed
rs1232407605 CA377626025	1174	T>A		No	ClinGen TOPMed gnomAD
CA5607442 rs752255076	1174	T>I		No	ClinGen ExAC gnomAD
CA5607441 rs767297923	1176	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1429193125 CA377625985	1178	I>V		No	ClinGen gnomAD
rs367778124 CA377625972	1179	H>P		No	ClinGen gnomAD
rs367778124 CA211532577	1179	H>R		No	ClinGen gnomAD
CA211532581 rs550707290	1179	H>Y		No	ClinGen TOPMed gnomAD
CA377625957 rs1268343609	1180	S>L		No	ClinGen gnomAD
rs199909651 CA211532575	1181	T>I		No	ClinGen Ensembl
rs762887126 CA5607438	1185	T>K		No	ClinGen ExAC TOPMed gnomAD
rs762887126 CA5607437	1185	T>M		No	ClinGen ExAC TOPMed gnomAD
CA377625905 rs1369570583	1186	W>*		No	ClinGen gnomAD
rs748122115 CA5607434	1187	D>E		No	ClinGen ExAC gnomAD
CA5607435 rs770064190	1187	D>N		No	ClinGen ExAC gnomAD
CA377625892 rs1274148578	1187	D>V		No	ClinGen gnomAD
CA377625874 rs1294604423	1190	I>V		No	ClinGen TOPMed
CA377625864 rs1333977636	1191	I>R		No	ClinGen TOPMed
CA5607433 rs776797325	1191	I>V		No	ClinGen ExAC gnomAD
rs1305781381 CA377625851	1193	D>G		No	ClinGen TOPMed gnomAD
COSM921560 CA5607431 rs375965848	1193	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
TCGA novel	1196	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs12256834 CA211532517	1198	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_031250 rs12256834 CA5607430	1198	Y>F		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5607429 rs772413387	1199	G>E		No	ClinGen ExAC TOPMed gnomAD
rs374462062 CA211532491	1200	E>K		No	ClinGen ESP TOPMed
rs755804204 CA5607426	1201	P>H		No	ClinGen ExAC gnomAD
CA377625798 rs1479224677	1201	P>S		No	ClinGen gnomAD
rs752098935 CA5607425	1206	Q>*		No	ClinGen ExAC gnomAD
rs1447957989 CA377625750	1208	P>L		No	ClinGen TOPMed gnomAD
CA377625751 rs1447957989	1208	P>R		No	ClinGen TOPMed gnomAD
CA5607422 rs751517942	1211	V>G		No	ClinGen ExAC gnomAD
CA5607423 rs754485165	1211	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5607424 rs754485165	1211	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1213	M>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377625724 rs1460911907	1213	M>V		No	ClinGen TOPMed gnomAD
CA211532476 rs868266345	1214	E>A		No	ClinGen Ensembl
TCGA novel	1215	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377625683 rs1198621659	1218	N>S		No	ClinGen gnomAD
rs991661326 CA211532455	1219	D>G		No	ClinGen TOPMed
CA377625671 rs1564640830	1220	Q>*		No	ClinGen Ensembl
rs1473091047 CA377625664	1221	V>M		No	ClinGen TOPMed gnomAD
CA211532311 rs1018862364	1222	G>S		No	ClinGen TOPMed
CA5607406 rs754493216	1224	D>N		No	ClinGen ExAC gnomAD
CA377625629 rs1228594100	1224	D>V		No	ClinGen gnomAD
rs1355051279 CA377625626	1225	E>K		No	ClinGen gnomAD
rs751178586 COSM3441621 CA5607405	1229	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5607404 rs780085110	1229	R>Q		No	ClinGen ExAC gnomAD
rs1341635999 CA377625585	1231	I>V		No	ClinGen gnomAD
rs1408412173 CA377625573	1232	F>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs758437259 CA5607403	1232	F>S		No	ClinGen ExAC gnomAD
rs34777013 CA5607402	1233	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs754080090 CA5607399	1239	N>K		No	ClinGen ExAC TOPMed gnomAD
CA5607400 rs761564062	1239	N>S		No	ClinGen ExAC gnomAD
rs1164143816 CA377625525	1240	S>*		No	ClinGen TOPMed
CA377625511 rs1369008044	1242	M>R		No	ClinGen TOPMed gnomAD
CA377625512 rs1369008044	1242	M>T		No	ClinGen TOPMed gnomAD
rs764289927 CA5607398	1243	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5607397 rs760682207	1244	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5607395 rs772519052	1245	T>A		No	ClinGen ExAC gnomAD
TCGA novel	1246	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA211532237 rs2761326	1249	L>F		No	ClinGen Ensembl
CA211532229 rs34568729	1250	W>*		No	ClinGen Ensembl
rs201019922 CA211532227	1251	H>Y		No	ClinGen TOPMed gnomAD
rs1320461205 CA377625443	1253	V>I		No	ClinGen TOPMed
CA5607391 rs760065013	1255	N>Y		No	ClinGen ExAC
CA5607390 rs774758928	1256	G>R		No	ClinGen ExAC gnomAD
rs1228210777 CA377625416	1257	D>N		No	ClinGen TOPMed
rs370249231 CA5607389	1259	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1356382903 CA377625396	1259	A>V		No	ClinGen gnomAD
CA5607387 COSM1193685 rs370780451	1261	G>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1332966637 CA377625377	1262	D>E		No	ClinGen TOPMed gnomAD
rs1006516798 CA211532222	1262	D>V		No	ClinGen Ensembl
rs183135638 CA5607386	1263	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5607385 rs746472971	1264	L>V		No	ClinGen ExAC gnomAD
CA5607383 rs748097920	1266	T>I		No	ClinGen ExAC TOPMed gnomAD
rs748097920 CA211532206	1266	T>N		No	ClinGen ExAC TOPMed gnomAD
rs998734721 CA211532201	1267	A>S		No	ClinGen TOPMed gnomAD
rs1406054512 CA377625339	1269	L>P		No	ClinGen gnomAD
CA377625323 rs1564640378	1272	R>K		No	ClinGen Ensembl
CA5607381 rs778775859	1274	K>N		No	ClinGen ExAC gnomAD
TCGA novel	1274	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5607369 rs373132726	1276	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs746632250 CA5607367	1280	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1281	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5607366 rs775334443	1282	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1482116305 CA377625240	1283	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA5607365 rs200385861	1284	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs567501010 CA5607364	1286	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757156408 CA5607362	1286	R>S		No	ClinGen ExAC TOPMed gnomAD
rs567501010 CA5607363	1286	R>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377625218 rs1184131368	1287	A>S		No	ClinGen TOPMed
rs553662967 CA5607361	1287	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs760353683 CA211532117	1289	N>D		No	ClinGen TOPMed gnomAD
CA377625209 rs760353683	1289	N>H		No	ClinGen TOPMed gnomAD
rs767782533 CA5607357	1291	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA377625158 rs1365976753 CA377625155 CA377625156	1292	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
CA377625160 rs1302617874	1292	M>R		No	ClinGen TOPMed
rs1437400770 CA377625166	1292	M>V		No	ClinGen gnomAD
CA5607355 rs201120124	1294	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1447126468 CA377625122	1295	Q>H		No	ClinGen gnomAD
CA211532089 rs907256385	1296	G>E		No	ClinGen Ensembl
rs1357348343 CA377625121	1296	G>R		No	ClinGen gnomAD
TCGA novel	1298	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1298	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766847684 CA377625092	1298	R>S		No	ClinGen ExAC gnomAD
rs367609305 CA211532087	1300	V>M		No	ClinGen ESP
rs200321200 CA5607327	1309	L>V		No	ClinGen 1000Genomes ExAC gnomAD
CA377624012 rs1314775923	1311	W>C		No	ClinGen gnomAD
rs1386073793 CA377623941	1316	M>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA211531528 rs956351575	1317	K>E		No	ClinGen Ensembl
rs1233760801 CA377623904	1318	N>I		No	ClinGen gnomAD
TCGA novel	1319	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377623876 rs1286294852	1320	Q>E		No	ClinGen gnomAD
TCGA novel	1320	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1411392553 CA377623848	1322	A>G		No	ClinGen TOPMed gnomAD
rs1396823832 CA377623841	1323	S>F		No	ClinGen gnomAD
rs769723757 CA5607325	1324	I>T		No	ClinGen ExAC gnomAD
rs780983962 CA5607323	1327	P>H		No	ClinGen ExAC gnomAD
CA5607322 rs768538560	1328	S>T		No	ClinGen ExAC TOPMed
rs1166308593 CA377623765	1329	L>P		No	ClinGen gnomAD
CA377623739 rs1472585018	1331	V>G		No	ClinGen gnomAD
CA377623746 rs1272608217	1331	V>M		No	ClinGen TOPMed
CA377623716 rs1410395913	1333	C>R		No	ClinGen gnomAD
TCGA novel	1333	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1249954870 CA377623685	1335	G>R		No	ClinGen gnomAD
TCGA novel	1336	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA211531506 rs371546726	1337	R>K		No	ClinGen gnomAD
rs201086819 CA5607321	1339	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780384647 CA5607320	1340	S>L		No	ClinGen ExAC TOPMed gnomAD
rs750536272 CA5607318	1341	V>M		No	ClinGen ExAC gnomAD
CA5607317 rs201952657	1343	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs954382194 CA211531480	1346	L>F		No	ClinGen TOPMed gnomAD
CA5607315 rs757862761 COSM1675438	1348	K>T	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1405505297 CA377623436	1351	N>K		No	ClinGen TOPMed
TCGA novel	1351	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5607312 rs754214058	1352	F>L		No	ClinGen ExAC TOPMed gnomAD
CA377623394 rs1326075140	1354	S>T		No	ClinGen gnomAD
rs1347802789 CA377623373	1355	S>F		No	ClinGen TOPMed
rs764332911 COSM921558 CA5607311	1357	L>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1387158609 CA377623350	1357	L>R		No	ClinGen gnomAD
CA5607310 rs371434552	1359	M>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA377623321 rs1457080156	1359	M>L		No	ClinGen TOPMed
CA5607309 rs371434552	1359	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1457080156 CA377623323	1359	M>V		No	ClinGen TOPMed
TCGA novel	1362	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775380041 CA5607282	1365	K>E		No	ClinGen ExAC gnomAD
rs1554842692 CA5607280	1365	K>M		No	ClinGen Ensembl
rs1056275883 CA211530269	1365	K>N		No	ClinGen TOPMed gnomAD
rs775380041 CA377622646	1365	K>Q		No	ClinGen ExAC gnomAD
CA5607279 rs746055070	1366	E>D		No	ClinGen ExAC gnomAD
rs1227474772 CA377622608	1367	E>D		No	ClinGen gnomAD
rs774761394 CA5607277	1367	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1369	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756653994 CA5607273	1370	M>I		No	ClinGen ExAC
rs749445778 CA377622576	1370	M>L		No	ClinGen ExAC TOPMed gnomAD
rs778070741 CA5607274	1370	M>T		No	ClinGen ExAC gnomAD
CA5607275 rs749445778	1370	M>V		No	ClinGen ExAC TOPMed gnomAD
CA211530244 rs923821217	1371	P>T		No	ClinGen TOPMed gnomAD
rs748410053 CA5607271	1373	L>M		No	ClinGen ExAC gnomAD
rs1392254827 CA377622526	1374	V>A		No	ClinGen gnomAD
CA5607270 rs781641432	1374	V>L		No	ClinGen ExAC gnomAD
CA5607269 rs563290203	1376	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA211530230 rs979316146	1377	V>F		No	ClinGen gnomAD
rs750065641 CA5607268	1378	I>V		No	ClinGen ExAC gnomAD
rs1486536578 CA377622473 COSM198740	1379	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs946669732 CA211530222	1380	H>N		No	ClinGen TOPMed
rs946669732 CA211530220	1380	H>Y		No	ClinGen TOPMed
rs1589425143 CA377622411	1383	F>L		No	ClinGen Ensembl
rs1481889449 CA377622409	1384	G>R		No	ClinGen gnomAD
CA377622395 rs1195892928	1385	R>G		No	ClinGen TOPMed gnomAD
rs753403522 CA5607265	1385	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1255492351 CA377622338	1387	P>L		No	ClinGen TOPMed
CA5607263 rs760699823	1388	V>A		No	ClinGen ExAC gnomAD
rs372498089 CA5607262	1389	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs201567412 CA5607261	1390	G>S		No	ClinGen 1000Genomes ExAC TOPMed
rs774710330 CA5607259	1392	C>R		No	ClinGen ExAC TOPMed gnomAD
CA377622253 rs774710330	1392	C>S		No	ClinGen ExAC TOPMed gnomAD
rs771282866 CA5607258	1393	T>A		No	ClinGen ExAC gnomAD
rs921570152 CA211530184	1394	I>F		No	ClinGen Ensembl
CA5607255 rs770157812	1395	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1165060995 CA377622179	1395	E>V		No	ClinGen gnomAD
COSM1969907 CA5607254 rs748654426	1396	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs781611138 CA5607253	1396	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377622148 rs781611138	1396	R>L		No	ClinGen ExAC gnomAD
CA5607252 VAR_031251 rs11187393	1399	R>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5607251 rs747382999	1399	R>H		No	ClinGen ExAC TOPMed gnomAD
CA377622116 rs11187393	1399	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5607250 rs41298243	1400	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756925871 CA377622066	1401	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5607248 rs572212231	1401	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs572212231 CA5607247	1401	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA5607249 rs756925871	1401	R>S		No	ClinGen ExAC TOPMed gnomAD
rs374952135 CA211530142	1402	C>Y		No	ClinGen ESP TOPMed gnomAD
rs755627012 CA5607246	1403	D>G		No	ClinGen ExAC TOPMed gnomAD
CA211530138 rs983248655	1403	D>H		No	ClinGen Ensembl
rs1047667025 CA377621993	1404	P>L		No	ClinGen TOPMed gnomAD
rs1047667025 CA211530131	1404	P>R		No	ClinGen TOPMed gnomAD
rs558588477 CA211530116	1405	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1025854436 CA211530124	1405	Y>C		No	ClinGen gnomAD
CA5607244 rs370235457	1406	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA377621957 rs1328051955	1407	G>A		No	ClinGen gnomAD
CA5607243 rs759337685	1407	G>R		No	ClinGen ExAC TOPMed gnomAD
rs202160206 CA5607242	1408	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1395148896 CA377621929	1409	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs766655843 CA377621877	1412	V>F		No	ClinGen ExAC TOPMed gnomAD
rs766655843 CA5607241	1412	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA377621878 rs766655843	1412	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5607240 rs150283160	1413	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5607239 rs773343364	1414	Q>H		No	ClinGen ExAC gnomAD
CA377621830 rs1589424814	1416	K>R		No	ClinGen Ensembl
rs769906941 CA5607238	1417	A>T		No	ClinGen ExAC TOPMed gnomAD
CA377621355 rs1216373891	1418	S>A		No	ClinGen gnomAD
COSM3738785 CA5607163 rs780877845	1419	L>F	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA377621350 rs780877845	1419	L>V		No	ClinGen ExAC TOPMed gnomAD
CA211528170 rs895612111	1420	L>P		No	ClinGen TOPMed
CA5607162 rs754571967	1422	A>G		No	ClinGen ExAC TOPMed gnomAD
CA377621336 rs1224228429	1422	A>T		No	ClinGen TOPMed
CA377621332 rs754571967	1422	A>V		No	ClinGen ExAC TOPMed gnomAD
rs746918577 CA5607161	1423	P>S		No	ClinGen ExAC gnomAD
CA5607159 rs780209361	1424	P>L		No	ClinGen ExAC gnomAD
CA211528159 rs780209361	1424	P>Q		No	ClinGen ExAC gnomAD
CA377621324 rs1435018469	1424	P>T		No	ClinGen TOPMed gnomAD
rs750202274 CA5607158	1425	C>W		No	ClinGen ExAC gnomAD
CA5607154 rs201449564	1426	R>Q		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs115337638 CA5607156	1426	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5607152 rs754100245	1428	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1202194844 CA377621294	1429	V>A		No	ClinGen TOPMed
rs772419609 CA5607151	1429	V>I		No	ClinGen ExAC TOPMed gnomAD
CA377621290 rs1422492425	1430	I>F		No	ClinGen TOPMed
rs760804748 CA377621286	1430	I>M		No	ClinGen ExAC TOPMed gnomAD
CA377621284 rs775970286	1431	E>*		No	ClinGen ExAC TOPMed gnomAD
rs775970286 CA5607149 COSM1349856	1431	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5607148 rs369375616	1432	M>V		No	ClinGen ESP ExAC gnomAD
CA211528124 rs983160405	1433	E>K		No	ClinGen TOPMed
CA377621262 rs1206742895	1434	D>N		No	ClinGen gnomAD
rs774601264 CA5607146	1436	K>E		No	ClinGen ExAC gnomAD
rs769443805 CA211528114 CA5607145	1436	K>N		No	ClinGen ExAC TOPMed gnomAD
CA5607143 rs768265947	1437	P>L		No	ClinGen ExAC TOPMed gnomAD
rs768265947 CA5607142	1437	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA5607144 rs747768248	1437	P>T		No	ClinGen ExAC gnomAD
rs779986878 CA5607140	1440	A>V		No	ClinGen ExAC gnomAD
CA377621219 rs1354555174	1441	S>F		No	ClinGen gnomAD
CA377621223 rs1365651670	1441	S>T		No	ClinGen TOPMed
CA5607138 rs745639628	1442	K>R		No	ClinGen ExAC gnomAD
rs1564631670 CA377620572	1443	L>V		No	ClinGen Ensembl
CA377620548 rs1272440879	1444	T>K		No	ClinGen gnomAD
rs777912409 CA5607116	1445	E>D		No	ClinGen ExAC gnomAD
TCGA novel	1446	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756350204 CA5607115	1446	K>N		No	ClinGen ExAC TOPMed gnomAD
CA377620245 rs1378530671	1447	E>*		No	ClinGen gnomAD
rs1175030719	1447	E>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA377620215 rs747022058	1451	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5607073 rs747022058	1451	V>M		No	ClinGen ExAC TOPMed gnomAD
rs780250691 CA5607071	1452	D>E		No	ClinGen ExAC gnomAD
rs371855611 CA211525872	1452	D>H		No	ClinGen ESP TOPMed gnomAD
rs1187637248 CA377620197	1453	W>*		No	ClinGen gnomAD
rs1589410157 CA377620194	1454	W>*		No	ClinGen Ensembl
rs1015757709 CA211525869	1454	W>G		No	ClinGen Ensembl
CA377620184 rs1437208053	1455	S>N		No	ClinGen TOPMed gnomAD
CA377620178 rs1484841140	1456	K>*		No	ClinGen gnomAD
rs758600049 CA5607070	1458	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1425505339 CA377619941	1459	A>T		No	ClinGen TOPMed
CA377619927 rs1211723735	1459	A>V		No	ClinGen gnomAD
CA377619915 rs1174001879	1460	S>F		No	ClinGen TOPMed
CA377619904 rs1272219790	1461	S>P		No	ClinGen gnomAD
rs757500620 CA5607067	1463	E>*		No	ClinGen ExAC gnomAD
rs757500620 CA377619880	1463	E>K		No	ClinGen ExAC gnomAD
rs1027796845 CA211525864	1464	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	1466	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377619755 rs1353207084	1468	G>A		No	ClinGen TOPMed gnomAD
CA377619758 rs1353207084	1468	G>E		No	ClinGen TOPMed gnomAD
CA5607065 rs767025864	1468	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5607063 rs140386623	1470	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
CA377619716 rs1466112680	1470	Y>C		No	ClinGen gnomAD
CA211525860 rs925517411	1470	Y>N		No	ClinGen TOPMed
CA5607061 rs540502257	1471	I>F		No	ClinGen 1000Genomes ExAC gnomAD
CA5607062 rs540502257	1471	I>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	1472	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1473	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377619637 rs1279019844	1474	G>A		No	ClinGen TOPMed
rs539566939 CA5607059	1474	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA211525851 rs1043970220	1477	K>N		No	ClinGen TOPMed
rs1474408123 CA377619575	1479	K>E		No	ClinGen gnomAD
rs1245214148 CA377619555	1480	I>V		No	ClinGen gnomAD
CA5607035 rs775791990	1481	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs79155397 CA377619527	1483	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1224969327 CA377619529	1483	C>F		No	ClinGen gnomAD
rs1448920924 CA377619526	1484	E>K		No	ClinGen TOPMed
rs370414547 CA5607032	1486	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs770952911 CA5607031	1487	N>S		No	ClinGen ExAC gnomAD
CA377619503 rs770952911	1487	N>T		No	ClinGen ExAC gnomAD
rs778201416 CA5607029	1488	V>E		No	ClinGen ExAC gnomAD
CA5607030 rs749776878	1488	V>I		No	ClinGen ExAC gnomAD
CA377619490 rs1362316110	1489	A>V		No	ClinGen gnomAD
CA5607027 rs748515791	1490	E>*		No	ClinGen ExAC gnomAD
CA377619489 rs748515791	1490	E>Q		No	ClinGen ExAC gnomAD
CA377619464 rs1267531313	1492	E>K		No	ClinGen TOPMed gnomAD
rs1245781722 CA377619444	1493	G>D		No	ClinGen gnomAD
CA5607026 rs779621648	1493	G>S		No	ClinGen ExAC gnomAD
rs1308202215 CA377619432	1494	L>Q		No	ClinGen TOPMed
CA377619417 rs1226924232	1495	T>I		No	ClinGen TOPMed
CA5607023 rs778465404	1496	D>G		No	ClinGen ExAC gnomAD
rs1485382666 CA377619366	1499	D>G		No	ClinGen gnomAD
rs201673770 CA377619352	1500	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201673770 CA5607021	1500	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1353968235 CA377619330	1502	K>E		No	ClinGen gnomAD
rs1365868263 CA377619316	1503	L>M		No	ClinGen gnomAD
rs951558293 CA211525290	1503	L>W		No	ClinGen Ensembl
CA377619302 rs1231414982	1504	Y>H		No	ClinGen gnomAD
rs200180322 CA5607019	1505	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5607018 rs374181707	1505	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA377619246 COSM262270 rs1383190028	1508	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5607016 rs759798550	1509	D>E		No	ClinGen ExAC gnomAD
CA377619228 rs1375047974	1509	D>G		No	ClinGen TOPMed gnomAD
rs962558537 CA211525283	1509	D>N		No	ClinGen TOPMed gnomAD
rs774482339 CA5607015	1513	D>N		No	ClinGen ExAC
rs182564653 CA211525279	1514	P>T		No	ClinGen 1000Genomes
CA5607013 rs550764306	1516	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1392610821 CA377619077	1520	F>I		No	ClinGen TOPMed gnomAD
CA211525275 rs756740078	1520	F>L		No	ClinGen Ensembl
CA211525272 rs1012129732	1521	K>R		No	ClinGen TOPMed gnomAD
rs769004048 CA377617869	1523	S>C		No	ClinGen ExAC TOPMed gnomAD
CA5606987 rs769004048	1523	S>F		No	ClinGen ExAC TOPMed gnomAD
rs201634420 CA377617837	1525	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5606985 rs371741740	1525	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
RCV000963074 rs201634420 CA5606986	1525	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA377617813 rs1393494862	1526	I>F		No	ClinGen TOPMed
rs1589403644 CA377617795	1527	Y>S		No	ClinGen Ensembl
rs770515398 CA5606984	1528	P>R		No	ClinGen ExAC TOPMed gnomAD
CA377617785 rs1368630891	1528	P>S		No	ClinGen TOPMed gnomAD
CA5606983 COSM1196447 rs748793608	1530	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs748793608 CA377617758	1530	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1589403567 CA377617723	1532	D>A		No	ClinGen Ensembl
CA377617731 rs1468424304	1532	D>N		No	ClinGen gnomAD
rs781341952 CA5606980	1534	S>R		No	ClinGen ExAC TOPMed gnomAD
CA5606978 rs34676128 RCV000956847	1535	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs751325238 CA5606977	1537	A>D		No	ClinGen ExAC gnomAD
CA377617579 rs751325238	1537	A>V		No	ClinGen ExAC gnomAD
CA5606975 rs61861290	1539	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201274786 CA377617448	1543	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5606971 rs201274786	1543	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761947674 CA5606972	1543	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA377617443 rs1321363220	1544	E>K		No	ClinGen TOPMed gnomAD
CA5606970 rs764601313	1545	L>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1548	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5606966 rs762488103	1549	V>I		No	ClinGen ExAC TOPMed gnomAD
CA5606967 rs762488103	1549	V>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1550	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5606965 rs773054217	1551	Q>E		No	ClinGen ExAC gnomAD
rs1251625590 CA377617282	1551	Q>R		No	ClinGen gnomAD
rs1283844966 CA377617262	1552	E>A		No	ClinGen gnomAD
rs368199843 CA5606964	1552	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs567247614 CA377617220	1554	T>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5606962 rs567247614	1554	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746777943 CA5606960	1556	R>M		No	ClinGen ExAC gnomAD
CA5606958 rs758272688	1558	Y>F		No	ClinGen ExAC gnomAD
CA5606956 rs779112671	1559	I>N		No	ClinGen ExAC gnomAD
rs779112671 CA5606957	1559	I>T		No	ClinGen ExAC gnomAD
rs1564626288 CA377617142	1560	V>I		No	ClinGen Ensembl
rs554218131 CA5606955	1561	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554218131 CA377617130	1561	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA377617127 rs753946172	1561	R>P		No	ClinGen ExAC TOPMed gnomAD
CA5606954 rs753946172	1561	R>Q		No	ClinGen ExAC TOPMed gnomAD
COSM686077 rs1589403305 CA377617094	1564	E>Q	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs1200054164 CA377617077	1565	L>F		No	ClinGen gnomAD
rs1589403289 CA377616891	1566	Q>H		No	ClinGen Ensembl
CA377616876 rs1589403283	1567	P>L		No	ClinGen Ensembl
rs753293320 CA5606950	1568	Q>P		No	ClinGen ExAC TOPMed gnomAD
rs1273742878 CA377616848	1569	D>E		No	ClinGen TOPMed
CA377616860 rs1193371529	1569	D>N		No	ClinGen gnomAD
rs1478629073 CA377616842	1570	N>D		No	ClinGen gnomAD
CA377616834 rs1241933640	1570	N>I		No	ClinGen gnomAD
CA377616832 rs1191475776	1570	N>K		No	ClinGen gnomAD
TCGA novel	1570	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1210300522 CA377616816	1571	N>K		No	ClinGen gnomAD
rs760008365 CA5606948	1571	N>S		No	ClinGen ExAC TOPMed gnomAD
rs767757652 CA5606949	1571	N>Y		No	ClinGen ExAC gnomAD
rs772929504 CA5606947	1572	G>S		No	ClinGen ExAC gnomAD
rs1332107849 CA377616728	1574	C>R		No	ClinGen TOPMed
rs761525759 CA5606927	1575	D>E		No	ClinGen ExAC gnomAD
rs764941052 CA5606928	1575	D>H		No	ClinGen ExAC TOPMed gnomAD
CA5606929 rs764941052	1575	D>N		No	ClinGen ExAC TOPMed gnomAD
CA211521308 rs866739518	1577	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1448045404 CA377616650	1579	K>R		No	ClinGen TOPMed gnomAD
CA377616624 rs1203194832	1580	I>T		No	ClinGen TOPMed
rs776485945 CA5606926	1580	I>V		No	ClinGen ExAC TOPMed gnomAD
rs763509302 CA5606925	1581	T>I		No	ClinGen ExAC TOPMed gnomAD
CA5606924 rs760237224	1582	L>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel rs1424838635	1586	V>S	Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA377616539 rs1416157859	1587	I>T		No	ClinGen TOPMed gnomAD
rs775234869 CA5606923	1587	I>V		No	ClinGen ExAC gnomAD
CA5606922 rs369605584	1590	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5606921 rs369605584	1590	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs201619869 CA5606920	1590	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1196723683 CA377616502	1592	H>L		No	ClinGen gnomAD
rs1459008583 CA377616495	1593	Y>C		No	ClinGen TOPMed gnomAD
rs578159939 CA211521293	1594	I>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA211521289 rs1030438245	1594	I>N		No	ClinGen Ensembl
CA377616491 rs578159939	1594	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs201714545 CA211521287	1595	P>S		No	ClinGen 1000Genomes
CA377616474 rs1258541596	1596	N>S		No	ClinGen gnomAD
CA377616459 rs1415771813	1597	T>I		No	ClinGen TOPMed
rs202041377 CA5606919	1599	N>K		No	ClinGen ExAC TOPMed gnomAD
rs200147618 CA377616424	1600	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1410073445 CA377616420	1600	P>L		No	ClinGen gnomAD
rs200147618 CA5606918	1600	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA377615747 rs776610506	1605	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5606899 rs776610506	1605	M>V		No	ClinGen ExAC TOPMed gnomAD
CA377615696 rs367626173	1607	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA5606897 rs367626173	1607	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA5606895 rs781299458	1609	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1269285980 CA377615636	1610	C>G		No	ClinGen gnomAD
rs1050255430 CA211520472	1611	Y>*		No	ClinGen TOPMed gnomAD
rs755157148 CA5606894	1611	Y>C		No	ClinGen ExAC gnomAD
CA377615592 rs1260508212	1612	L>S		No	ClinGen TOPMed gnomAD
rs1218203044 CA377615565	1613	P>L		No	ClinGen gnomAD
CA377615560 rs1353739088	1614	Q>*		No	ClinGen gnomAD
COSM283074 rs1384983226 CA377615544	1615	E>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA377615493 rs1254880592	1617	D>E		No	ClinGen gnomAD
CA377615405 rs1314453916	1622	V>A		No	ClinGen gnomAD
rs747515298 CA377615414	1622	V>I		No	ClinGen ExAC gnomAD
rs747515298 CA5606893	1622	V>L		No	ClinGen ExAC gnomAD
rs1302477352 CA377615371	1623	Y>*		No	ClinGen gnomAD
CA377615382 rs1564622926	1623	Y>C		No	ClinGen Ensembl
rs780712576 CA377615368	1624	D>N		No	ClinGen ExAC TOPMed gnomAD
rs780712576 CA5606891	1624	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs200907437 CA211520470	1627	T>N		No	ClinGen gnomAD
rs1300227022 CA377615205	1629	T>A		No	ClinGen gnomAD
CA5606889 rs750823370	1629	T>I		No	ClinGen ExAC gnomAD
CA5606887 rs371413309	1630	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5606886 rs371413309	1630	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375438315 CA5606888	1630	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759110355 CA5606884	1631	D>N		No	ClinGen ExAC gnomAD
rs751428360 CA5606883	1632	E>D		No	ClinGen ExAC gnomAD
CA377615151 rs1243908096	1632	E>K		No	ClinGen TOPMed
CA5606882 rs766314651	1633	K>*		No	ClinGen ExAC gnomAD
CA5606881 rs762684800	1634	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA377615032 rs1012189805	1637	T>I		No	ClinGen gnomAD
CA211520461 rs1012189805	1637	T>K		No	ClinGen gnomAD
CA377615023 rs1254954590	1638	I>S		No	ClinGen gnomAD
TCGA novel	1639	I>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773089825 CA5606880	1639	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1640	D>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1484531949 CA377615000	1640	D>H		No	ClinGen gnomAD
rs769515731 CA5606879	1643	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1053594747 COSM921554 CA211520458	1644	R>*	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs372110838 CA5606877	1644	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA5606878 rs372110838 COSM117230	1644	R>Q	ovary Variant assessed as Somatic; 0.0001855 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA5606876 rs768790699	1645	F>L		No	ClinGen ExAC TOPMed gnomAD
CA5606875 rs368619864	1646	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1355049988 CA377614891	1647	S>P		No	ClinGen gnomAD
rs780661205 CA5606874	1648	R>C		No	ClinGen ExAC TOPMed gnomAD
rs374348145 CA5606873	1648	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1006807383 CA211520451	1650	G>W		No	ClinGen TOPMed gnomAD
CA5606872 rs371104829	1653	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs200675152 COSM3670630 CA5606870	1654	G>S	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1172546709 CA377614171	1654	G>V		No	ClinGen gnomAD
rs990961988 CA211520443	1655	I>T		No	ClinGen TOPMed
CA211520445 rs930080292	1655	I>V		No	ClinGen Ensembl
rs1367469016 CA377614124	1657	E>G		No	ClinGen gnomAD
rs1184782290 CA377614112	1658	E>K		No	ClinGen TOPMed gnomAD
CA5606869 rs752393796	1659	Y>H		No	ClinGen ExAC
rs368100153 CA211520440	1660	C>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs368100153 CA5606868	1660	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs751089270 CA5606866	1660	C>S		No	ClinGen ExAC TOPMed gnomAD
rs751089270 CA5606867	1660	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs766261317 CA5606865	1661	V>A		No	ClinGen ExAC gnomAD
COSM3808016 CA377613954 rs1406798365	1662	S>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA377613929 rs1378392232	1663	G>E		No	ClinGen TOPMed
CA377613922 rs1171214969	1664	V>I		No	ClinGen TOPMed
CA211520296 rs770074204	1668	R>*		No	ClinGen gnomAD
rs147755177 CA5606838	1668	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5606837 rs373244202	1670	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs1245410901 CA377613803	1670	Q>H		No	ClinGen gnomAD
CA377613819 rs373244202	1670	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1477970062 CA377613814	1670	Q>P		No	ClinGen TOPMed gnomAD
CA377613776 rs1201442194	1672	R>T		No	ClinGen gnomAD
rs1452418750 CA377613731	1674	T>I		No	ClinGen gnomAD
rs759543212 CA5606836	1675	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs774860416 CA5606835	1679	N>Y		No	ClinGen ExAC gnomAD
CA377613546 rs1589394266	1680	V>G		No	ClinGen Ensembl
CA5606833 rs771359787	1680	V>I		No	ClinGen ExAC gnomAD
CA377613515 rs1344207059	1681	A>G		No	ClinGen gnomAD
CA5606831 rs773532305	1681	A>T		No	ClinGen ExAC TOPMed gnomAD
CA377613407 rs1272875759	1685	G>A		No	ClinGen TOPMed gnomAD
rs1272875759 CA377613409	1685	G>V		No	ClinGen TOPMed gnomAD
rs945027948 CA211520287	1686	F>L		No	ClinGen TOPMed gnomAD
CA377613345 rs770191957	1687	P>A		No	ClinGen ExAC gnomAD
rs1243081912 CA377613331	1687	P>L		No	ClinGen gnomAD
CA5606830 rs770191957	1687	P>S		No	ClinGen ExAC gnomAD
rs376576394 CA211520283	1689	P>L		No	ClinGen ESP TOPMed gnomAD
rs746649692 CA5606829	1689	P>S		No	ClinGen ExAC gnomAD
rs1159189333 CA377613247	1690	I>N		No	ClinGen gnomAD
CA5606828 rs563605808	1690	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA5606826 rs745392257	1693	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757113234 CA5606824	1694	D>G		No	ClinGen ExAC gnomAD
CA5606825 rs543699587	1694	D>H		No	ClinGen 1000Genomes ExAC gnomAD
rs753879632 CA5606823	1695	G>R		No	ClinGen ExAC gnomAD
rs763970172 CA5606822	1700	Y>C		No	ClinGen ExAC gnomAD
CA5606821 VAR_049059 rs34000599	1701	G>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773417822 CA5606819	1702	G>E		No	ClinGen ExAC gnomAD
CA5606820 rs752903932	1702	G>R		No	ClinGen ExAC TOPMed gnomAD
CA5606818 rs759608010	1703	R>*		No	ClinGen ExAC TOPMed gnomAD
rs910330432 CA211520268	1703	R>Q		No	ClinGen TOPMed gnomAD
CA5606817 rs774322591	1704	D>H		No	ClinGen ExAC TOPMed gnomAD
CA5606816 rs766516615	1705	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1341972528 CA377612922	1706	S>R		No	ClinGen gnomAD
CA5606815 rs763427664	1707	L>F		No	ClinGen ExAC gnomAD
CA211520263 rs867760876	1708	D>G		No	ClinGen Ensembl
rs1163688101 CA377612854	1710	F>S		No	ClinGen TOPMed
CA5606798 rs766354108	1711	E>V		No	ClinGen ExAC gnomAD
CA5606797 rs763085955	1713	N>S		No	ClinGen ExAC gnomAD
CA377612271 rs1176577766	1717	H>N		No	ClinGen TOPMed gnomAD
CA211519605 rs750862119	1717	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA377612258 rs1395198830	1718	Q>H		No	ClinGen TOPMed
rs765745535 CA5606795	1718	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs776831136 CA5606793	1720	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5606791 rs565434611	1721	G>R		No	ClinGen ExAC TOPMed gnomAD
rs986419481 CA211519598	1722	A>D		No	ClinGen TOPMed
rs1376857978 CA377612238	1722	A>P		No	ClinGen TOPMed gnomAD
CA211519595 rs946679256	1723	P>H		No	ClinGen TOPMed
rs774123578 CA5606790	1723	P>S		No	ClinGen ExAC gnomAD
rs372062140 CA377612213	1726	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA5606788 rs372062140	1726	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs770502402 CA5606789	1726	R>W		No	ClinGen ExAC TOPMed gnomAD
CA211519590 rs998799746	1729	L>V		No	ClinGen gnomAD
CA5606787 rs777800718	1730	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1351775123 CA377612179	1732	L>V		No	ClinGen gnomAD
CA5606785 rs748134478	1733	R>S		No	ClinGen ExAC TOPMed gnomAD
rs780825365 CA5606784	1734	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1156825816 CA377612161	1735	Q>*		No	ClinGen TOPMed gnomAD
CA377612162 rs1156825816	1735	Q>E		No	ClinGen TOPMed gnomAD
rs1420768694 CA377612157	1735	Q>H		No	ClinGen TOPMed gnomAD
CA377612140 rs1589389654	1738	V>G		No	ClinGen Ensembl
CA5606781 rs374010762	1738	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1222620083 CA377612125	1741	H>N		No	ClinGen gnomAD
rs200608203 CA5606778	1741	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5606775 rs200846511	1742	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5606776 rs200846511	1742	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs372184454 CA5606774	1744	T>I		No	ClinGen ESP ExAC
CA377612101 rs1169266672	1745	R>G		No	ClinGen TOPMed
CA5606773 rs773821534	1745	R>T		No	ClinGen ExAC gnomAD
CA377612083 rs1318036210	1747	L>F		No	ClinGen gnomAD
rs762508968 CA5606771	1751	F>L		No	ClinGen ExAC gnomAD
TCGA novel	1753	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5606769 rs34689790	1754	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748019718 CA5606768	1754	N>K		No	ClinGen ExAC gnomAD
rs1300107991 CA377612029	1755	I>T		No	ClinGen gnomAD
CA5606767 rs776695208	1756	S>F		No	ClinGen ExAC gnomAD
CA377612020 rs1438540097	1757	Q>E		No	ClinGen TOPMed
CA377610285 rs1408112561	1762	M>L		No	ClinGen gnomAD
CA5606747 rs761389971	1765	D>A		No	ClinGen ExAC gnomAD
rs761389971 CA5606748	1765	D>V		No	ClinGen ExAC gnomAD
rs776373737 CA5606746	1768	P>S		No	ClinGen ExAC gnomAD
CA377610157 rs1457931027	1769	K>R		No	ClinGen TOPMed
CA377610134 rs1192726972	1770	S>N		No	ClinGen gnomAD
rs1428541107 CA377610036	1772	G>E		No	ClinGen gnomAD
CA5606744 rs746960831	1772	G>R		No	ClinGen ExAC gnomAD
rs1428541107 CA377610032	1772	G>V		No	ClinGen gnomAD
rs1000741959 CA211519025	1773	P>L		No	ClinGen Ensembl
CA377610030 rs1589385967	1773	P>T		No	ClinGen Ensembl
rs759926060 CA5606743	1774	P>R		No	ClinGen ExAC gnomAD
rs1254842566 CA377610006	1774	P>S		No	ClinGen gnomAD
rs375447124 CA5606742	1778	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs375447124 CA377609900	1778	F>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1363264672 CA377609853	1779	N>I		No	ClinGen TOPMed
CA377609785 rs1316332254	1781	T>K		No	ClinGen TOPMed gnomAD
rs1228406538 CA377609756	1782	P>H		No	ClinGen TOPMed gnomAD
rs1228406538 CA377609750	1782	P>L		No	ClinGen TOPMed gnomAD
rs11594445 VAR_031252 CA5606737	1783	R>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs199815755 CA5606739	1783	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1785	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778107233 CA5606736	1786	K>R		No	ClinGen ExAC
CA377609494 rs1307451310	1787	K>N		No	ClinGen gnomAD
CA5606715 rs748658000	1788	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA5606716 rs368851551	1788	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA211518992 rs558864109	1791	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD
CA5606713 rs375863813 COSM3356142	1791	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs977555220 CA211518989	1795	W>S		No	ClinGen TOPMed
rs751994192 CA5606711	1796	N>D		No	ClinGen ExAC TOPMed gnomAD
CA377609331 rs1483862550	1798	K>E		No	ClinGen TOPMed
CA377609333 rs1483862550	1798	K>Q		No	ClinGen TOPMed
CA5606710 rs778389506	1799	D>N		No	ClinGen ExAC gnomAD
CA5606708 rs753493011 COSM1258594	1800	V>I	oesophagus pancreas [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5606707 rs763657684	1802	L>W		No	ClinGen ExAC gnomAD
CA5606706 rs760109576	1803	D>G		No	ClinGen ExAC gnomAD
rs202057196 CA5606704	1804	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1178902024 CA377609210	1805	K>E		No	ClinGen TOPMed
CA377609191 rs1239421888	1806	S>N		No	ClinGen TOPMed gnomAD
CA377609170 rs1348433577	1807	I>N		No	ClinGen gnomAD
CA377609159 rs1281081528	1808	T>P		No	ClinGen gnomAD
TCGA novel	1809	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1809	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA211518980 rs868015276	1812	M>I		No	ClinGen Ensembl
CA377609026 rs1239411511	1815	I>N		No	ClinGen TOPMed gnomAD
CA5606703 rs759290451	1816	Y>C		No	ClinGen ExAC gnomAD
rs1564617326 CA377609013	1816	Y>D		No	ClinGen Ensembl
CA5606701 rs187814862	1817	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5606700 rs187814862	1817	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1381149669 CA377607729	1820	W>R		No	ClinGen gnomAD
rs367559861 CA377607701	1821	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA377607696 rs1435594752	1822	P>A		No	ClinGen TOPMed
rs1470484168 CA377607679	1823	G>D		No	ClinGen gnomAD
CA377607549 rs1290438047	1832	D>A		No	ClinGen TOPMed
rs200252603 COSM3935216 CA5606664	1832	D>H	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs553003145 CA5606663	1834	H>L		No	ClinGen ExAC gnomAD
rs765163991 CA5606661	1840	G>D		No	ClinGen ExAC gnomAD
CA211518247 rs1019135468	1841	E>K		No	ClinGen TOPMed
rs1189403249 CA377607374	1845	N>S		No	ClinGen TOPMed
CA5606660 rs762104561	1846	W>C		No	ClinGen ExAC gnomAD
COSM1239538 rs374378517 CA5606659	1847	R>*	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1202083218 CA377607346	1847	R>L		No	ClinGen TOPMed gnomAD
CA377607343 rs1202083218	1847	R>P		No	ClinGen TOPMed gnomAD
CA377607345 rs1202083218 COSM921551	1847	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA377607340 rs1308876980	1848	F>I		No	ClinGen gnomAD
CA5606658 rs764201264	1849	V>F		No	ClinGen ExAC gnomAD
rs141412560 CA5606657	1851	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377607262 rs1406662287	1852	F>L		No	ClinGen TOPMed
CA5606655 rs376023660	1853	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1453964941 CA377607219	1854	Y>C		No	ClinGen TOPMed gnomAD
CA377607222 rs1453964941	1854	Y>S		No	ClinGen TOPMed gnomAD
CA377607171 rs1296798572	1856	P>Q		No	ClinGen gnomAD
CA377607176 rs1307949683	1856	P>S		No	ClinGen TOPMed gnomAD
rs771346954 CA5606652 COSM1349852	1858	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA211518237 rs992423163	1860	L>H		No	ClinGen Ensembl
rs935431624 CA211518235	1861	C>R		No	ClinGen TOPMed
CA377607067 rs1554836382	1862	I>F		No	ClinGen Ensembl
CA5606650 rs1554836382	1862	I>V		No	ClinGen Ensembl
rs780830520 CA5606648	1863	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs146626145 CA211518228	1864	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146626145 CA5606647	1864	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377607000 rs1407050145	1865	K>E		No	ClinGen gnomAD
rs780003234 CA5606645	1865	K>R		No	ClinGen ExAC TOPMed gnomAD
rs763324256 CA5606632	1867	E>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1867	E>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377605476 rs763324256	1867	E>K		No	ClinGen ExAC TOPMed gnomAD
rs776220573 CA5606631	1870	W>*		No	ClinGen ExAC gnomAD
CA377605327 rs1181868255	1870	W>*		No	ClinGen TOPMed gnomAD
CA377605317 rs1181868255	1870	W>C		No	ClinGen TOPMed gnomAD
rs1391855108 CA377605346	1870	W>R		No	ClinGen Ensembl
CA5606630 rs182574491	1872	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1564612789 CA377605138	1874	Q>R		No	ClinGen Ensembl
rs746716670 CA5606629	1875	T>A		No	ClinGen ExAC gnomAD
CA5606628 rs369487360	1875	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs191713681 CA5606626	1876	E>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5606625 rs779005999	1878	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs901151163 CA211513510	1878	R>Q		No	ClinGen TOPMed gnomAD
rs926241053 CA211513490	1886	Q>K		No	ClinGen TOPMed
rs753715773 CA5606622 CA377604807	1887	I>L		No	ClinGen ExAC TOPMed gnomAD
CA5606621 rs756083422	1887	I>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1887	I>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201166887 CA5606619	1889	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1890	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5606618 rs767494101	1891	D>N		No	ClinGen ExAC gnomAD
CA377604654 rs1314943534	1892	K>R		No	ClinGen gnomAD
rs1467907283 CA377604605	1894	S>Y		No	ClinGen gnomAD
CA377604549 rs1199546086	1896	D>E		No	ClinGen gnomAD
rs1247423926 CA377604512 COSM333781	1898	Y>C	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
rs186936190 CA5606616	1899	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1431839454 CA377603413	1901	F>L		No	ClinGen TOPMed
CA5606594 rs370747406	1903	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5606593 rs758881685	1904	L>F		No	ClinGen ExAC gnomAD
rs910738694 CA211511284	1906	L>*		No	ClinGen TOPMed
rs138208183 COSM1349851 CA5606591	1907	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs374263594 CA5606590	1907	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs762252053 CA5606589	1908	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA211511259 rs898897534	1909	T>M		No	ClinGen TOPMed gnomAD
rs972046372 CA211511249	1911	I>V		No	ClinGen Ensembl
TCGA novel	1912	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759301010 CA5606586	1913	A>V		No	ClinGen ExAC gnomAD
rs773972612 CA5606585	1914	K>E		No	ClinGen ExAC
rs1262880151 CA377603327	1915	S>L		No	ClinGen gnomAD
CA5606584 rs770620728	1917	E>K		No	ClinGen ExAC gnomAD
CA377603291 CA377603290 rs787666	1920	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5606581 rs769422043	1921	L>S		No	ClinGen ExAC gnomAD
TCGA novel	1921	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200526001 CA5606580	1922	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA377603274 rs1386310440	1923	M>L		No	ClinGen TOPMed gnomAD
CA377603275 rs1386310440	1923	M>V		No	ClinGen TOPMed gnomAD
rs781234710 CA377603259	1925	P>A		No	ClinGen ExAC TOPMed gnomAD
rs199884146 CA5606578	1925	P>L		No	ClinGen ExAC TOPMed gnomAD
rs781234710 CA5606579	1925	P>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1931	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA211511200 rs758541223	1931	N>K		No	ClinGen ExAC TOPMed gnomAD
rs1289683651 CA377603208	1932	P>L		No	ClinGen TOPMed gnomAD
CA211511185 rs373595278	1933	L>F		No	ClinGen TOPMed
CA377603205 rs373595278	1933	L>V		No	ClinGen TOPMed
rs1361438447 CA377603182	1934	K>N		No	ClinGen gnomAD
rs750870337 CA5606572	1935	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1166937905 CA377603175	1935	A>T		No	ClinGen TOPMed
CA377603166 rs750870337	1935	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1295614278 COSM240804 CA377603136	1937	T>I	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed
CA5606568 rs764412531	1938	A>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5606570 rs373169973	1938	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs764412531 CA5606569	1938	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5606567 rs764598880	1939	S>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1940	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366693916 CA377603034	1946	M>L		No	ClinGen TOPMed gnomAD
CA5606565 rs765916973	1946	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1366693916 CA377603035	1946	M>V		No	ClinGen TOPMed gnomAD
rs1002789680 CA211511093	1949	W>L		No	ClinGen Ensembl
rs200024635 CA5606564	1950	W>R		No	ClinGen ExAC TOPMed gnomAD
rs772978810 CA5606563	1951	P>L		No	ClinGen ExAC gnomAD
CA377602918 rs377745370	1954	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA5606560 rs377745370	1954	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA377602888 rs1589371717	1956	K>R		No	ClinGen Ensembl
TCGA novel	1958	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772089105 CA5606556	1959	A>T		No	ClinGen ExAC TOPMed gnomAD
rs374294319 CA5606555	1960	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs369620858 CA5606554	1960	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs201400625 CA5606552	1961	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs758105628 CA5606527	1966	V>M		No	ClinGen ExAC gnomAD
TCGA novel	1971	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1971	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA377601502 rs1589367917	1972	I>T		No	ClinGen Ensembl
rs1312355596 CA377601461	1974	N>S		No	ClinGen gnomAD
rs761235019 CA5606524	1975	E>K		No	ClinGen ExAC TOPMed gnomAD
rs528296376 CA5606523	1976	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5606522 rs764048926	1977	E>A		No	ClinGen ExAC gnomAD
CA5606521 rs559236084	1977	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA377601390 rs1259559424	1977	E>K		No	ClinGen TOPMed
rs180931942 CA5606519	1979	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5606517 rs774438879	1980	E>K		No	ClinGen ExAC TOPMed gnomAD
CA377601313 rs774438879	1980	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs949082305 CA211508978	1981	R>K		No	ClinGen Ensembl
CA377601249 rs1411776970	1981	R>S		No	ClinGen TOPMed gnomAD
rs1390833087 CA377601246	1982	P>S		No	ClinGen gnomAD
CA5606516 rs770981917	1983	A>S		No	ClinGen ExAC gnomAD
CA377601209 rs1383173953	1983	A>V		No	ClinGen gnomAD
rs569934741 CA5606514	1984	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1201973313 CA377601165	1985	K>*		No	ClinGen gnomAD
rs201849605 CA5606513	1987	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM921549 CA5606510 rs755367267	1987	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs201849605 CA5606512	1987	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5606509 rs368622319	1988	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA377601077 rs1229207662	1988	D>N		No	ClinGen gnomAD
rs368622319 CA377601046	1988	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5606507 COSM198730 rs756750552	1989	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM223420 CA377600964 rs1375634150	1990	P>L	skin [Cosmic]	No	ClinGen cosmic curated TOPMed
TCGA novel	1990	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753255957 CA5606506	1990	P>T		No	ClinGen ExAC gnomAD
rs1363599848 CA377600939	1991	N>I		No	ClinGen gnomAD
rs780662898 CA211508936	1991	N>K		No	ClinGen TOPMed
rs1166686550 CA377600881	1992	M>I		No	ClinGen gnomAD
rs756031105 CA5606504	1994	P>S		No	ClinGen ExAC gnomAD
rs1332601747 CA377600718	1997	D>G		No	ClinGen gnomAD
rs1283591422 CA377600664	1999	P>S		No	ClinGen gnomAD
CA5606502 rs752694960	2000	N>I		No	ClinGen ExAC gnomAD
CA5606477 rs146306077	2001	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs146306077 CA377600433	2001	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs765341682 CA5606476	2001	R>Q	Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762000151 CA5606475	2003	E>G		No	ClinGen ExAC gnomAD
rs980903216 CA211508515	2005	S>C		No	ClinGen TOPMed
rs761291902 CA5606472	2005	S>T		No	ClinGen ExAC gnomAD
CA5606471 rs775703811	2009	F>L		No	ClinGen ExAC gnomAD
CA5606469 rs371439616	2010	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1395484645 CA377600194	2013	C>Y		No	ClinGen TOPMed
rs1480251654 CA377600148	2016	M>V		No	ClinGen TOPMed gnomAD
CA5606467 rs199664834	2017	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1256666017 CA377600086	2020	V>M		No	ClinGen gnomAD
CA211508485 rs761410156	2021	W>G		No	ClinGen Ensembl
rs917791266 CA211508474	2022	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs754851421 CA5606464	2022	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA211508465 rs867374556	2023	R>C		No	ClinGen TOPMed gnomAD
rs779713322 CA5606462	2023	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779713322 CA5606463	2023	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1365735125 CA377600012	2024	F>V		No	ClinGen TOPMed gnomAD
rs758273421 CA5606461	2025	K>N		No	ClinGen ExAC gnomAD
CA377599984 rs1335773720	2025	K>R		No	ClinGen gnomAD
rs750616016 CA5606460	2026	W>*		No	ClinGen ExAC TOPMed gnomAD
CA5606459 rs765581115	2028	I>V		No	ClinGen ExAC gnomAD
CA5606458 rs761945167	2029	I>F		No	ClinGen ExAC gnomAD
rs369733924 CA211508421	2030	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5606455 rs761081912	2030	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
COSM1474869 CA5606456 rs369733924	2030	G>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1249811364 CA377599800	2035	L>F		No	ClinGen gnomAD
CA5606453 rs369504097	2036	I>T		No	ClinGen ESP ExAC gnomAD
rs772809321 CA5606451	2040	F>L		No	ClinGen ExAC TOPMed gnomAD
CA377599694 rs769402522	2041	V>L		No	ClinGen ExAC TOPMed gnomAD
CA5606449 rs769402522	2041	V>M		No	ClinGen ExAC TOPMed gnomAD
CA5606447 rs780555861	2043	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1402807073 CA377599565	2046	Y>F		No	ClinGen TOPMed
CA5606444 rs780054378	2047	S>C		No	ClinGen ExAC gnomAD
CA5606443 rs758220397	2048	L>F		No	ClinGen ExAC gnomAD
CA5606442 rs750276649	2049	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5606414 rs745856891	2054	M>T		No	ClinGen ExAC gnomAD
CA211505479 rs1032557203	2054	M>V		No	ClinGen TOPMed
CA377597358 rs1435512242	2057	V>I		No	ClinGen TOPMed
rs546971591 CA5606413	2059	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA377597316 rs1299802857	2059	P>L		No	ClinGen TOPMed
CA5606411 rs749412606	2061	V>E		No	ClinGen ExAC gnomAD
CA5606412 rs372520132	2061	V>M		No	ClinGen ESP ExAC TOPMed gnomAD

1 associated diseases with Q9NZM1

[MIM: 619366]: Angioedema, hereditary, 7 (HAE7)

A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade. {ECO:0000269|PubMed:32542751}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A form of angioedema, a disorder characterized by episodic local swelling involving subcutaneous or submucous tissue of the upper respiratory and gastrointestinal tracts, face, extremities, and genitalia. HAE7 is an autosomal dominant form characterized by onset of recurrent swelling of the face, lips, and oral mucosa in the second decade. {ECO:0000269|PubMed:32542751}. Note=The disease may be caused by variants affecting the gene represented in this entry.

No regional properties for Q9NZM1

Type	Name	Position	InterPro Accession
No domain, repeats, and functional sites for Q9NZM1

Functions

		Description
EC Number
Subcellular Localization	Cell membrane; Single-pass type II membrane protein Nucleus membrane; Single-pass type II membrane protein Cytoplasmic vesicle membrane; Single-pass type II membrane protein	Concentrated at the membrane sites of both myoblast-myoblast and myoblast-myotube fusions Detected at the plasmalemma in endothelial cells lining intact blood vessels (By similarity) Found at nuclear and plasma membranes Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
caveola	A membrane raft that forms small pit, depression, or invagination that communicates with the outside of a cell and extends inward, indenting the cytoplasm and the cell membrane. Examples include flask-shaped invaginations of the plasma membrane in adipocytes associated with caveolin proteins, and minute pits or incuppings of the cell membrane formed during pinocytosis. Caveolae may be pinched off to form free vesicles within the cytoplasm.
cytoplasmic vesicle	A vesicle found in the cytoplasm of a cell.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
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.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
nuclear envelope	The double lipid bilayer enclosing the nucleus and separating its contents from the rest of the cytoplasm; includes the intermembrane space, a gap of width 20-40 nm (also called the perinuclear space).
nuclear membrane	Either of the lipid bilayers that surround the nucleus and form the nuclear envelope; excludes the intermembrane space.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

2 GO annotations of molecular function

Name	Definition
metal ion binding	Binding to a metal ion.
phospholipid binding	Binding to a phospholipid, a class of lipids containing phosphoric acid as a mono- or diester.

7 GO annotations of biological process

Name	Definition
blood circulation	The flow of blood through the body of an animal, enabling the transport of nutrients to the tissues and the removal of waste products.
membrane fusion	The membrane organization process that joins two lipid bilayers to form a single membrane.
muscle contraction	A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis.
myoblast fusion	A process in which non-proliferating myoblasts fuse to existing fibers or to myotubes to form new fibers. A myoblast is a mononucleate cell type that, by fusion with other myoblasts, gives rise to the myotubes that eventually develop into skeletal muscle fibers.
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.
plasma membrane repair	The resealing of a cell plasma membrane after cellular wounding due to, for instance, mechanical stress.
T-tubule organization	A process that is carried out at the cellular level that results in the assembly, arrangement of constituent parts, or disassembly of the T-tubule. A T-tubule is an invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q6DN14	MCTP1	Multiple C2 and transmembrane domain-containing protein 1	Homo sapiens (Human)	PR
Q69ZN7	Myof	Myoferlin	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MLRVIVESAS	NIPKTKFGKP	DPIVSVIFKD	EKKKTKKVDN	ELNPVWNEIL	EFDLRGIPLD
70	80	90	100	110	120
FSSSLGIIVK	DFETIGQNKL	IGTATVALKD	LTGDQSRSLP	YKLISLLNEK	GQDTGATIDL
130	140	150	160	170	180
VIGYDPPSAP	HPNDLSGPSV	PGMGGDGEED	EGDEDRLDNA	VRGPGPKGPV	GTVSEAQLAR
190	200	210	220	230	240
RLTKVKNSRR	MLSNKPQDFQ	IRVRVIEGRQ	LSGNNIRPVV	KVHVCGQTHR	TRIKRGNNPF
250	260	270	280	290	300
FDELFFYNVN	MTPSELMDEI	ISIRVYNSHS	LRADCLMGEF	KIDVGFVYDE	PGHAVMRKWL
310	320	330	340	350	360
LLNDPEDTSS	GSKGYMKVSM	FVLGTGDEPP	PERRDRDNDS	DDVESNLLLP	AGIALRWVTF
370	380	390	400	410	420
LLKIYRAEDI	PQMDDAFSQT	VKEIFGGNAD	KKNLVDPFVE	VSFAGKKVCT	NIIEKNANPE
430	440	450	460	470	480
WNQVVNLQIK	FPSVCEKIKL	TIYDWDRLTK	NDVVGTTYLH	LSKIAASGGE	VEDFSSSGTG
490	500	510	520	530	540
AASYTVNTGE	TEVGFVPTFG	PCYLNLYGSP	REYTGFPDPY	DELNTGKGEG	VAYRGRILVE
550	560	570	580	590	600
LATFLEKTPP	DKKLEPISND	DLLVVEKYQR	RRKYSLSAVF	HSATMLQDVG	EAIQFEVSIG
610	620	630	640	650	660
NYGNKFDTTC	KPLASTTQYS	RAVFDGNYYY	YLPWAHTKPV	VTLTSYWEDI	SHRLDAVNTL
670	680	690	700	710	720
LAMAERLQTN	IEALKSGIQG	KIPANQLAEL	WLKLIDEVIE	DTRYTLPLTE	GKANVTVLDT
730	740	750	760	770	780
QIRKLRSRSL	SQIHEAAVRM	RSEATDVKST	LAEIEDWLDK	LMQLTEEPQN	SMPDIIIWMI
790	800	810	820	830	840
RGEKRLAYAR	IPAHQVLYST	SGENASGKYC	GKTQTIFLKY	PQEKNNGPKV	PVELRVNIWL
850	860	870	880	890	900
GLSAVEKKFN	SFAEGTFTVF	AEMYENQALM	FGKWGTSGLV	GRHKFSDVTG	KIKLKREFFL
910	920	930	940	950	960
PPKGWEWEGE	WIVDPERSLL	TEADAGHTEF	TDEVYQNESR	YPGGDWKPAE	DTYTDANGDK
970	980	990	1000	1010	1020
AASPSELTCP	PGWEWEDDAW	SYDINRAVDE	KGWEYGITIP	PDHKPKSWVA	AEKMYHTHRR
1030	1040	1050	1060	1070	1080
RRLVRKRKKD	LTQTASSTAR	AMEELQDQEG	WEYASLIGWK	FHWKQRSSDT	FRRRRWRRKM
1090	1100	1110	1120	1130	1140
APSETHGAAA	IFKLEGALGA	DTTEDGDEKS	LEKQKHSATT	VFGANTPIVS	CNFDRVYIYH
1150	1160	1170	1180	1190	1200
LRCYVYQARN	LLALDKDSFS	DPYAHICFLH	RSKTTEIIHS	TLNPTWDQTI	IFDEVEIYGE
1210	1220	1230	1240	1250	1260
PQTVLQNPPK	VIMELFDNDQ	VGKDEFLGRS	IFSPVVKLNS	EMDITPKLLW	HPVMNGDKAC
1270	1280	1290	1300	1310	1320
GDVLVTAELI	LRGKDGSNLP	ILPPQRAPNL	YMVPQGIRPV	VQLTAIEILA	WGLRNMKNFQ
1330	1340	1350	1360	1370	1380
MASITSPSLV	VECGGERVES	VVIKNLKKTP	NFPSSVLFMK	VFLPKEELYM	PPLVIKVIDH
1390	1400	1410	1420	1430	1440
RQFGRKPVVG	QCTIERLDRF	RCDPYAGKED	IVPQLKASLL	SAPPCRDIVI	EMEDTKPLLA
1450	1460	1470	1480	1490	1500
SKLTEKEEEI	VDWWSKFYAS	SGEHEKCGQY	IQKGYSKLKI	YNCELENVAE	FEGLTDFSDT
1510	1520	1530	1540	1550	1560
FKLYRGKSDE	NEDPSVVGEF	KGSFRIYPLP	DDPSVPAPPR	QFRELPDSVP	QECTVRIYIV
1570	1580	1590	1600	1610	1620
RGLELQPQDN	NGLCDPYIKI	TLGKKVIEDR	DHYIPNTLNP	VFGRMYELSC	YLPQEKDLKI
1630	1640	1650	1660	1670	1680
SVYDYDTFTR	DEKVGETIID	LENRFLSRFG	SHCGIPEEYC	VSGVNTWRDQ	LRPTQLLQNV
1690	1700	1710	1720	1730	1740
ARFKGFPQPI	LSEDGSRIRY	GGRDYSLDEF	EANKILHQHL	GAPEERLALH	ILRTQGLVPE
1750	1760	1770	1780	1790	1800
HVETRTLHST	FQPNISQGKL	QMWVDVFPKS	LGPPGPPFNI	TPRKAKKYYL	RVIIWNTKDV
1810	1820	1830	1840	1850	1860
ILDEKSITGE	EMSDIYVKGW	IPGNEENKQK	TDVHYRSLDG	EGNFNWRFVF	PFDYLPAEQL
1870	1880	1890	1900	1910	1920
CIVAKKEHFW	SIDQTEFRIP	PRLIIQIWDN	DKFSLDDYLG	FLELDLRHTI	IPAKSPEKCR
1930	1940	1950	1960	1970	1980
LDMIPDLKAM	NPLKAKTASL	FEQKSMKGWW	PCYAEKDGAR	VMAGKVEMTL	EILNEKEADE
1990	2000	2010	2020	2030	2040
RPAGKGRDEP	NMNPKLDLPN	RPETSFLWFT	NPCKTMKFIV	WRRFKWVIIG	LLFLLILLLF
2050	2060
VAVLLYSLPN	YLSMKIVKPN	V