AiPD: Autoinhibited Protein Database

Q96M83

Gene name	CCDC7 (BIOT2, C10orf68)
Protein name	Coiled-coil domain-containing protein 7
Names	Protein BIOT2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:79741
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

391-471 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

391-471 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q96M83

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q96M83-F1	Predicted				AlphaFoldDB

1152 variants for Q96M83

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs567893423 CA5464095	2	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376501267 rs1332226911	4	V>A		No	ClinGen TOPMed
CA376501296 rs1357439808	8	L>F		No	ClinGen gnomAD
CA376501298 rs1415534098	9	T>A		No	ClinGen gnomAD
CA5464096 rs750068430	9	T>I		No	ClinGen ExAC gnomAD
CA376501307 rs1334075983	10	T>I		No	ClinGen TOPMed gnomAD
CA5464098 rs779659559	12	N>K		No	ClinGen ExAC gnomAD
rs192572889 CA5464099	13	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5464100 rs141307804	14	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1405835617 CA376501342	16	N>D		No	ClinGen TOPMed
rs1188068214 CA376501345	16	N>I		No	ClinGen gnomAD
CA205842473 rs375917547	17	V>F		No	ClinGen ExAC TOPMed gnomAD
rs375917547 CA5464101	17	V>I		No	ClinGen ExAC TOPMed gnomAD
CA205842475 rs895691805	18	P>A		No	ClinGen TOPMed
rs146985063 CA5464102	18	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1373962201 CA376501359	19	A>T		No	ClinGen gnomAD
rs1166928951 CA376501370	21	T>A		No	ClinGen gnomAD
CA5464104 rs148905360	22	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376501380 rs1415403034	22	T>I		No	ClinGen TOPMed gnomAD
CA376501378 rs1415403034	22	T>N		No	ClinGen TOPMed gnomAD
TCGA novel	23	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312384322 CA376501381	23	K>Q		No	ClinGen TOPMed gnomAD
TCGA novel	25	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201020026 CA5464106	25	G>R		No	ClinGen 1000Genomes ExAC gnomAD
rs759605089 CA5464108	26	L>R		No	ClinGen ExAC gnomAD
rs761126639 CA5464111	33	P>A		No	ClinGen ExAC gnomAD
rs764479390 CA5464112	33	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1332996546 CA376501455	34	E>A		No	ClinGen gnomAD
CA376501460 rs1279025390	35	L>I		No	ClinGen gnomAD
TCGA novel	36	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs967507586 CA205842494	39	H>L		No	ClinGen TOPMed gnomAD
CA376501491 rs1232755457	39	H>N		No	ClinGen TOPMed
rs967507586 CA376501493	39	H>R		No	ClinGen TOPMed gnomAD
CA5464115 rs766126726	40	N>K		No	ClinGen ExAC TOPMed gnomAD
CA376501506 rs1435594499	41	A>E		No	ClinGen gnomAD
CA376501503 rs1397075835	41	A>T		No	ClinGen gnomAD
CA5464116 rs751315907	43	L>V		No	ClinGen ExAC gnomAD
CA376501528 rs1343704226	44	I>S		No	ClinGen TOPMed
CA376501524 rs1455475353	44	I>V		No	ClinGen gnomAD
CA376501532 rs1317694408	45	H>D		No	ClinGen TOPMed
CA5464117 rs754489205	45	H>R		No	ClinGen ExAC TOPMed gnomAD
CA205842501 rs977117855	46	D>N		No	ClinGen Ensembl
CA5464120 rs756032098	50	P>L		No	ClinGen ExAC gnomAD
rs374470371 CA5464119	50	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs148965260 CA205842507	51	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5464121 rs148965260	51	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA205842505 rs999937582	51	M>V		No	ClinGen TOPMed
rs1234548610 CA376501577	52	V>I		No	ClinGen gnomAD
rs1394193888 CA376501586	53	L>P		No	ClinGen TOPMed
TCGA novel	55	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779091860 CA5464124	56	P>A		No	ClinGen ExAC gnomAD
rs1485844731 CA376501606	57	P>S		No	ClinGen gnomAD
CA5464126 rs772155435	58	T>I		No	ClinGen ExAC gnomAD
rs775462645 CA5464127	60	E>A		No	ClinGen ExAC gnomAD
CA5464128 rs1554834528	60	E>D		No	ClinGen Ensembl
rs955825496 CA205842523	62	I>V		No	ClinGen TOPMed
rs368403420 CA5464130	64	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs368403420 CA376501649	64	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1055718131 CA205842526	64	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA376501656 rs1420897556	65	Y>C		No	ClinGen gnomAD
CA376501659 rs1364273985	66	A>T		No	ClinGen gnomAD
rs1037911337 CA205842532	66	A>V		No	ClinGen Ensembl
CA205842534 rs534703724	69	I>V		No	ClinGen Ensembl
rs954423198 CA205842539	71	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5464135 rs774116810	73	K>E		No	ClinGen ExAC TOPMed gnomAD
CA5464136 rs148093587	74	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
COSM256555 rs762095619 CA5464139	75	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA376501736 rs1244315932	78	L>I		No	ClinGen TOPMed gnomAD
rs1432756768 CA376501739	78	L>R		No	ClinGen TOPMed
rs1275671890	78	L>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs891121473 CA205842547	80	E>A		No	ClinGen TOPMed
CA205842551 rs1008455494	81	D>H		No	ClinGen TOPMed gnomAD
CA376501754 rs1008455494	81	D>N		No	ClinGen TOPMed gnomAD
CA5464143 rs757020037	82	E>*		No	ClinGen ExAC gnomAD
CA5464145 rs746062203	83	M>I		No	ClinGen ExAC gnomAD
rs778715994 CA5464144	83	M>T		No	ClinGen ExAC gnomAD
rs918630963 CA205842557	83	M>V		No	ClinGen TOPMed
CA5464147 rs554451471	85	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	86	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5464148 rs747062894	87	I>M		No	ClinGen ExAC TOPMed
rs1485613744 CA376501812	89	K>T		No	ClinGen TOPMed
CA5464149 rs768917471	90	H>R		No	ClinGen ExAC gnomAD
TCGA novel	92	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376501829 rs1347704165	92	K>Q		No	ClinGen gnomAD
CA5464165 rs757213991	94	V>A		No	ClinGen ExAC gnomAD
rs1240075261 CA376501862	95	V>F		No	ClinGen gnomAD
rs750198207 CA5464167	98	L>F		No	ClinGen ExAC gnomAD
CA5464169 rs199758916	100	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1588685059 CA376501904	101	T>N		No	ClinGen Ensembl
CA5464172 rs541761405 COSM1347631	102	Y>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs145143728 CA5464174	103	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs563497211 CA205842925	104	H>R		No	ClinGen gnomAD
CA376501930 rs35410367	105	C>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5464177 COSM1347632 rs771382422	106	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs774981505 CA5464178	113	F>Y		No	ClinGen ExAC TOPMed gnomAD
CA205842932 rs996075130	116	H>Y		No	ClinGen Ensembl
CA376502015 rs1235721203	117	E>G		No	ClinGen gnomAD
CA376502023 rs1436907065	118	H>R		No	ClinGen TOPMed
CA5464181 rs768112013	121	L>S		No	ClinGen ExAC TOPMed gnomAD
CA376502052 rs1447309644	122	S>Y		No	ClinGen gnomAD
CA205842941 rs199747692	123	L>F		No	ClinGen 1000Genomes
CA376502063 rs1175182432	124	S>P		No	ClinGen gnomAD
CA5464204 rs772993519	126	G>W		No	ClinGen ExAC gnomAD
rs376373220 CA5464205	129	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376502141 rs1450703043	133	L>F		No	ClinGen gnomAD
CA5464206 rs766040932	134	T>I		No	ClinGen ExAC gnomAD
CA5464207 rs370748954	135	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs759770084 CA5464208	136	C>G		No	ClinGen ExAC gnomAD
rs113888697 CA5464209	137	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA205843569 rs989727242	140	A>S		No	ClinGen Ensembl
rs1164231412 CA376502191	141	A>V		No	ClinGen gnomAD
CA376502199 rs1429575018	142	Q>L		No	ClinGen TOPMed
CA205843573 rs914104143	143	L>P		No	ClinGen Ensembl
CA5464212 rs777946513	144	E>A		No	ClinGen ExAC gnomAD
TCGA novel	144	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5464213 rs146377189	145	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA376502216 rs146377189	145	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA376502221 rs1336425878	146	A>T		No	ClinGen gnomAD
VAR_061586 rs56391924 CA5464215	148	K>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs746235004 CA205843585	149	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	151	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373674730 CA5464219	151	Q>R		No	ClinGen ESP ExAC gnomAD
rs1317813460 CA376502262	152	N>H		No	ClinGen TOPMed gnomAD
CA5464220 rs747840685	152	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1390980911 CA376502305	155	E>D		No	ClinGen gnomAD
rs530682765 CA205845133	155	E>Q		No	ClinGen Ensembl
rs777084739 CA5464241	159	K>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	160	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180305010 CA376502346	160	W>R		No	ClinGen TOPMed
TCGA novel	163	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745746480 CA5464263	164	Q>H		No	ClinGen ExAC gnomAD
rs77855068 CA5464264	165	V>G		No	ClinGen ExAC gnomAD
CA5464266 rs746814587	166	N>D		No	ClinGen ExAC gnomAD
rs1588818168 CA376502394	166	N>S		No	ClinGen Ensembl
rs776889762 CA5464268	167	Q>H		No	ClinGen ExAC gnomAD
CA205845224 rs560656168	168	M>T		No	ClinGen Ensembl
CA376502418 rs1456449464	169	E>G		No	ClinGen gnomAD
CA5464270 rs769816144	170	E>D		No	ClinGen ExAC TOPMed gnomAD
rs761981084 CA5464269	170	E>G		No	ClinGen ExAC TOPMed gnomAD
rs780123992 CA5464282	171	I>M		No	ClinGen ExAC gnomAD
CA5464283 rs746968934	172	S>N		No	ClinGen ExAC gnomAD
CA5464284 rs371134918	175	Q>E		No	ClinGen ESP ExAC gnomAD
CA376502471 rs1405795898	175	Q>R		No	ClinGen gnomAD
rs1163558370 CA376502480	176	T>I		No	ClinGen gnomAD
rs1431061127 CA376502491	178	L>S		No	ClinGen gnomAD
CA5464285 rs143864634	179	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA376502501 rs1423224852	180	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5464286 rs748345528	180	A>V		No	ClinGen ExAC gnomAD
CA5464288 rs773491562	182	P>S		No	ClinGen ExAC gnomAD
rs868667676 CA205847027	183	P>L		No	ClinGen TOPMed
rs868667676 CA376502523	183	P>R		No	ClinGen TOPMed
rs771050438 CA5464291	186	D>A		No	ClinGen ExAC TOPMed
CA5464292 rs774895094	190	I>V		No	ClinGen ExAC
CA5464293 rs759995165	192	N>D		No	ClinGen ExAC gnomAD
rs767870124 CA5464294	192	N>S		No	ClinGen ExAC gnomAD
rs753012735 CA5464295	193	I>F		No	ClinGen ExAC gnomAD
rs1202336019 CA376502587	193	I>T		No	ClinGen gnomAD
rs148603519 CA5464296	194	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA205847038 COSM1200039 rs377609004	205	E>*	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP TOPMed
rs370673442 CA205847041	206	L>R		No	ClinGen ESP TOPMed gnomAD
TCGA novel	207	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1588905882 CA376502689	208	N>S		No	ClinGen Ensembl
rs144227056 CA5464298	209	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5464299 rs780919773 COSM1289353	209	R>H	urinary_tract haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1451721132 CA376502712	211	K>N		No	ClinGen gnomAD
rs1210289236 CA376502724	213	R>T		No	ClinGen TOPMed
CA205847045 rs760545382	214	S>F		No	ClinGen Ensembl
CA376502742 rs1369397059	216	S>P		No	ClinGen gnomAD
rs779469879 CA5464300	217	S>T		No	ClinGen ExAC gnomAD
CA5464303 rs780973333	218	V>A		No	ClinGen ExAC TOPMed
rs375098645 CA5464302	218	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA376502772 rs1398532842	221	M>L		No	ClinGen TOPMed
CA5464304 rs186523284	221	M>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1588906276 CA376502781	222	L>S		No	ClinGen Ensembl
rs765858562 CA5464319	226	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs755963864 CA5464305	226	M>V		No	ClinGen ExAC
CA376502828 rs1444952871	227	D>G		No	ClinGen TOPMed gnomAD
CA376502826 rs1444952871	227	D>V		No	ClinGen TOPMed gnomAD
rs1057309146 CA205847304	229	E>K		No	ClinGen TOPMed
CA5464321 rs143359240	231	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5464320 rs143359240	231	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767344847 CA5464322	231	R>Q		No	ClinGen ExAC gnomAD
rs752682862 CA5464323	233	E>K		No	ClinGen ExAC gnomAD
rs1458052550 CA376502873	234	A>G		No	ClinGen gnomAD
rs777580473 CA5464325	234	A>T		No	ClinGen ExAC gnomAD
CA5464327 rs757431142	238	C>G		No	ClinGen ExAC gnomAD
CA376502910 rs1330592730	239	E>D		No	ClinGen gnomAD
CA376502908 rs1324523614	239	E>G		No	ClinGen gnomAD
rs778980783 CA5464328	240	A>V		No	ClinGen ExAC gnomAD
TCGA novel	241	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	241	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5464329 rs745929190	242	A>E		No	ClinGen ExAC gnomAD
TCGA novel	242	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772249250 CA5464330	243	Q>*		No	ClinGen ExAC gnomAD
CA205847321 rs201022333	246	E>K		No	ClinGen 1000Genomes gnomAD
CA376503114 rs1284379112	247	E>G		No	ClinGen gnomAD
rs1482891938 CA376503131	248	F>C		No	ClinGen TOPMed
CA5464345 rs757139670	249	L>*		No	ClinGen ExAC gnomAD
CA5464346 rs778986372	250	E>D		No	ClinGen ExAC gnomAD
rs1269835098 CA376503148	250	E>K		No	ClinGen TOPMed
CA5464347 rs750705104	251	A>T		No	ClinGen ExAC gnomAD
rs145224620 CA5464348	252	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1205069482 CA376503180	252	H>R		No	ClinGen gnomAD
CA376503177 rs145224620	252	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5464349 COSM159808 rs780311880	253	S>*	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA5464350 rs747468492	254	T>I		No	ClinGen ExAC gnomAD
CA376503221 rs1188705814	256	E>V		No	ClinGen gnomAD
rs1019770668 CA205847647	257	F>L		No	ClinGen Ensembl
rs150995497 CA5464351	259	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	259	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1442971850 CA376503266	262	A>T		No	ClinGen gnomAD
CA5464352 rs140485770	263	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs748512643 CA5464353	263	T>I		No	ClinGen ExAC TOPMed gnomAD
CA205847657 rs112534766	264	E>G		No	ClinGen Ensembl
rs1564383079 CA376503284	265	P>A		No	ClinGen Ensembl
rs201948918 CA5464355 COSM1627475	266	Q>*	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5464374 rs781759295	271	M>I		No	ClinGen ExAC gnomAD
rs1322070590 CA376503023	272	T>A		No	ClinGen gnomAD
rs374291544 CA5464375	274	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368821033 CA205854646	274	R>Q		No	ClinGen ESP TOPMed gnomAD
CA376503047 rs1313489041	276	N>D		No	ClinGen gnomAD
CA5464378 rs145255525	278	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1023157281 CA205854647	278	M>V		No	ClinGen gnomAD
CA5464379 rs771712874	280	K>R		No	ClinGen ExAC gnomAD
CA376503082 rs1248842010	281	V>I		No	ClinGen gnomAD
rs73251552 CA5464380	283	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	284	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760161326 CA5464381	286	A>E		No	ClinGen ExAC gnomAD
rs144989769 CA205854648	286	A>T		No	ClinGen ESP TOPMed gnomAD
CA5464382 rs760161326	286	A>V		No	ClinGen ExAC gnomAD
CA376503169 rs776517599 CA5464383	288	M>I		No	ClinGen ExAC TOPMed gnomAD
rs540885334 CA205854649	288	M>V		No	ClinGen 1000Genomes
rs1357825926 CA376503195	289	L>W		No	ClinGen TOPMed
rs181998428 CA376503202	290	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181998428 CA5464384	290	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1363225943 CA376504491	292	A>V		No	ClinGen gnomAD
rs557967421 CA5464411	293	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1372972279 CA376504516	295	D>G		No	ClinGen gnomAD
CA376504514 rs1289601737	295	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs766317859 CA5464412	296	Q>*		No	ClinGen ExAC gnomAD
CA5464413 rs774677442	297	V>I		No	ClinGen ExAC gnomAD
rs760783761 CA376504583	303	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1408689599 CA376504581	303	Y>H		No	ClinGen gnomAD
rs760783761 CA5464436	303	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA5464437 rs375535605	304	K>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA5464438 rs754327756	304	K>R		No	ClinGen ExAC gnomAD
rs765526670 CA5464440	305	Q>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	307	Q>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1006322577 CA205857690	307	Q>K		No	ClinGen TOPMed gnomAD
rs758828140 CA5464443	308	C>W		No	ClinGen ExAC TOPMed gnomAD
CA205857691 rs112489652	309	D>G		No	ClinGen Ensembl
CA5464444 rs201853347	309	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5464445 rs369248205	314	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1202824208 CA376504916	314	S>P		No	ClinGen TOPMed gnomAD
CA205857692 rs936009526	316	E>D		No	ClinGen TOPMed gnomAD
rs879204751 CA205857693	318	L>*		No	ClinGen Ensembl
CA5464447 rs777172712	319	V>E		No	ClinGen ExAC gnomAD
CA376504952 rs777172712	319	V>G		No	ClinGen ExAC gnomAD
rs1240999785 CA376504949	319	V>L		No	ClinGen gnomAD
CA205857694 rs865779217	320	L>M		No	ClinGen Ensembl
TCGA novel	321	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376504989 rs1426497038	325	Q>P		No	ClinGen gnomAD
rs1174762608 CA376505004	327	L>*		No	ClinGen gnomAD
rs1053146627 CA205857695	328	K>R		No	ClinGen TOPMed gnomAD
CA376505021 rs1317986253	329	D>E		No	ClinGen gnomAD
CA5464450 rs779064859	329	D>G		No	ClinGen ExAC gnomAD
rs956286739 CA205860257	333	T>A		No	ClinGen TOPMed
CA5464470 rs771863122	336	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1005460386 CA205860258	338	N>S		No	ClinGen gnomAD
CA5464472 rs201935164	339	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747197679 CA5464473 COSM1200040	339	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA376506044 rs1240854678	340	T>R		No	ClinGen gnomAD
CA376506062 rs1220822657	343	A>T		No	ClinGen gnomAD
rs768766015 CA5464474	344	V>E		No	ClinGen ExAC TOPMed gnomAD
rs1438703360 CA376506084	346	T>K		No	ClinGen gnomAD
rs1362466204 CA376506090	347	V>A		No	ClinGen gnomAD
rs867241538 CA205860260	347	V>L		No	ClinGen Ensembl
TCGA novel	348	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376506102 rs1589705538	349	K>E		No	ClinGen Ensembl
TCGA novel	351	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs567810372 CA5464475	354	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1187443598 CA376506146	355	S>P		No	ClinGen gnomAD
CA376506167 rs1422827473	358	S>T		No	ClinGen gnomAD
TCGA novel	359	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA205860262 rs896799290	360	K>R		No	ClinGen gnomAD
CA5464488 rs536655868	362	M>V		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	364	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756800280 CA5464489	365	E>G		No	ClinGen ExAC gnomAD
CA5464490 rs374772274	366	K>E		No	ClinGen ESP ExAC gnomAD
rs758284107 CA5464492	367	E>D		No	ClinGen ExAC TOPMed gnomAD
CA5464491 rs368851779	367	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA5464493 rs779833545	370	I>K		No	ClinGen ExAC gnomAD
rs746776900 CA5464494	372	E>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA376506300 rs1025730945	375	D>N		No	ClinGen TOPMed
CA205860352 rs1025730945	375	D>Y		No	ClinGen TOPMed
CA205860354 rs575329997	376	Q>*		No	ClinGen TOPMed gnomAD
TCGA novel	376	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA205860353 rs575329997	376	Q>K		No	ClinGen TOPMed gnomAD
CA376506313 rs1013597371	377	V>I		No	ClinGen TOPMed
CA205860355 rs1013597371	377	V>L		No	ClinGen TOPMed
CA5464495 rs754860537	378	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA205860356 rs987099271	378	Q>R		No	ClinGen TOPMed gnomAD
rs766214767 CA5464514	380	V>A		No	ClinGen ExAC TOPMed gnomAD
rs751565824 CA5464515	381	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5464516 rs754728035	381	A>V		No	ClinGen ExAC TOPMed gnomAD
rs780986035 CA5464517	382	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5464518 COSM3414988 rs145774668	382	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs145774668 CA5464519	382	R>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA376503511 rs145774668	382	R>P		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA376503526 rs1223049426	385	I>V		No	ClinGen gnomAD
rs148149537 CA5464524 CA5464522	386	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5464521 rs749311687	386	E>G		No	ClinGen ExAC gnomAD
CA376503543 rs1408490392	387	N>K		No	ClinGen gnomAD
rs549470854 CA5464525	387	N>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5464526 rs776012891	388	K>E		No	ClinGen ExAC gnomAD
rs1386551507 CA376503550	388	K>N		No	ClinGen gnomAD
CA376503547 rs1156561450	388	K>R		No	ClinGen gnomAD
CA205864218 rs5028341	390	L>F		No	ClinGen ExAC gnomAD
CA5464527 rs5028341	390	L>I		No	ClinGen ExAC gnomAD
TCGA novel	391	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769567847 CA5464528	393	Q>R		No	ClinGen ExAC gnomAD
CA376503592 rs1299080336	395	K>E		No	ClinGen gnomAD
rs1373131448 CA376503601	396	Q>*		No	ClinGen gnomAD
rs370754047 CA5464530	396	Q>H		No	ClinGen ESP ExAC gnomAD
CA376503603 rs1389887182	396	Q>R		No	ClinGen gnomAD
rs751403040 CA5464533	397	A>G		No	ClinGen ExAC gnomAD
rs765945111 CA5464532	397	A>S		No	ClinGen ExAC gnomAD
CA5464535 rs767230798	398	L>S		No	ClinGen ExAC gnomAD
rs780685764 CA5464564	400	E>K		No	ClinGen ExAC gnomAD
CA5464565 rs371691364	401	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1216778376 CA376503660	403	K>T		No	ClinGen gnomAD
CA5464568 rs748823242	407	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs141953361 CA5464566	407	Q>K		No	ClinGen ESP ExAC gnomAD
CA5464567 rs202120581	407	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376503694 rs1375570271	408	L>F		No	ClinGen TOPMed
CA376503696 rs1174993533	408	L>P		No	ClinGen TOPMed
rs964699148 CA205864570	409	N>Y		No	ClinGen TOPMed gnomAD
CA376503705 rs1448174937	410	Y>H		No	ClinGen gnomAD
CA376503717 rs1589993151	411	F>S		No	ClinGen Ensembl
CA376503724 rs1215924904	412	L>P		No	ClinGen gnomAD
rs1227197506 CA376503729	413	N>T		No	ClinGen Ensembl
TCGA novel	415	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5464570 rs375003515	416	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs770610218 CA5464569	416	K>R		No	ClinGen ExAC TOPMed gnomAD
rs770610218 CA376503753	416	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1487581042 CA376503763	418	L>I		No	ClinGen gnomAD
rs1202298115 CA376503780	420	S>N		No	ClinGen gnomAD
CA5464573 rs199840619	422	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5464572 rs199840619	422	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1051798685 CA205864583	428	M>I		No	ClinGen Ensembl
CA5464576 rs202010751	428	M>L		No	ClinGen ExAC TOPMed gnomAD
CA205864580 rs202010751	428	M>V		No	ClinGen ExAC TOPMed gnomAD
CA5464579 rs150529491	431	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs150529491 CA5464578	431	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs758521385 CA5464581	435	T>I		No	ClinGen ExAC gnomAD
CA5464582 rs765677973	436	K>E		No	ClinGen ExAC TOPMed gnomAD
rs983184533 CA205864592	439	G>A		No	ClinGen TOPMed
CA376503907 rs983184533	439	G>D		No	ClinGen TOPMed
CA5464583 rs752053697	439	G>S		No	ClinGen ExAC gnomAD
rs1215516459 CA376503911	440	E>*		No	ClinGen TOPMed
CA376503915 rs139518887 CA5464584	440	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376503916 rs1276829720	441	D>H		No	ClinGen TOPMed
CA205864595 CA376503927 rs1039253656	442	S>*		No	ClinGen gnomAD
rs1399877212 CA376503940	444	N>T		No	ClinGen TOPMed
rs893651219 CA205864597	445	I>L		No	ClinGen Ensembl
CA376503950 rs1356690824	445	I>M		No	ClinGen TOPMed
rs1358216821 CA376503964	448	E>K		No	ClinGen TOPMed
rs12268559 CA5464587 VAR_050766	449	K>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1417065757 CA376503992	451	T>R		No	ClinGen TOPMed
rs1475455493 CA376504010	454	S>*		No	ClinGen TOPMed
rs745546556 CA5464589	454	S>A		No	ClinGen ExAC TOPMed gnomAD
rs1268832999 CA376504018	456	V>F		No	ClinGen Ensembl
rs1190137707 CA376504038	459	S>T		No	ClinGen TOPMed
CA376504047 rs1470627972	460	G>D		No	ClinGen gnomAD
COSM1128063 CA376504044 rs1589994712	460	G>S	prostate [Cosmic]	No	ClinGen cosmic curated Ensembl
rs774998771 CA5464591	463	R>T		No	ClinGen ExAC gnomAD
rs1564682344 CA376504079	465	S>N		No	ClinGen Ensembl
CA376504085 rs1165343631	466	D>Y		No	ClinGen gnomAD
CA376504094 rs1404296543	467	K>*		No	ClinGen TOPMed gnomAD
CA376504093 rs1404296543	467	K>E		No	ClinGen TOPMed gnomAD
rs374085972 CA5464594	468	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs377596030 CA205864611	471	Y>*		No	ClinGen ESP TOPMed gnomAD
rs776491257 CA376504141	473	Q>H		No	ClinGen ExAC gnomAD
CA376504139 rs1564682577	473	Q>R		No	ClinGen Ensembl
rs779750971 CA5464610	479	G>R	Variant assessed as Somatic; 4.716e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	480	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746518373 CA5464612	483	E>V		No	ClinGen ExAC gnomAD
TCGA novel	484	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376504224 rs1195622524	484	K>T		No	ClinGen gnomAD
CA205867861 rs184004957	490	R>*		No	ClinGen 1000Genomes TOPMed
CA205867863 rs749390383	490	R>Q		No	ClinGen TOPMed
CA205867867 rs550196094	491	S>C		No	ClinGen 1000Genomes
rs1040806758 CA205867865	491	S>T		No	ClinGen TOPMed
CA205867869 rs771033353	492	S>G		No	ClinGen Ensembl
rs997695128 CA205867871	498	L>V		No	ClinGen TOPMed
rs1231925418 CA663853995	500	Q>*		No	ClinGen TOPMed
CA592758362 rs1449063990	501	I>T		No	ClinGen TOPMed gnomAD
CA663854002 rs1288374271	502	L>V		No	ClinGen TOPMed
CA205867875 rs538963522	503	K>E		No	ClinGen 1000Genomes
rs1411180415 CA663854004	507	E>V		No	ClinGen TOPMed
CA205867877 rs774767356	512	E>D		No	ClinGen TOPMed gnomAD
CA663854018 rs1297320381	512	E>V		No	ClinGen TOPMed
rs1392054106 CA592758363	513	S>N		No	ClinGen gnomAD
rs1351349816 CA663854023	516	E>Q		No	ClinGen TOPMed
CA592758364 rs1431512560	517	V>I		No	ClinGen gnomAD
rs953666176 CA205867879	518	S>P		No	ClinGen Ensembl
rs922813314 CA205867885	520	A>V		No	ClinGen TOPMed
CA205867887 rs759804692	525	Y>C		No	ClinGen TOPMed gnomAD
rs988218845 CA205867889	529	S>L		No	ClinGen TOPMed
CA205867891 rs767448494	531	T>I		No	ClinGen Ensembl
CA592758365 rs1360241565	532	H>P		No	ClinGen TOPMed gnomAD
rs909927358 CA205867895	535	S>P		No	ClinGen TOPMed gnomAD
CA663854044 rs1421023956	536	L>V		No	ClinGen TOPMed
CA663854052 rs1176772103	538	T>A		No	ClinGen TOPMed
rs12244832 CA13263333	538	T>I		No	ClinGen 1000Genomes TOPMed gnomAD
rs1255239465 CA663854069	539	V>G		No	ClinGen TOPMed
rs1388431740 CA592758366	541	S>P		No	ClinGen TOPMed gnomAD
CA663854082 rs1269367078	553	T>A		No	ClinGen TOPMed
CA205867901 rs926504577	553	T>I		No	ClinGen TOPMed gnomAD
rs926504577 CA592758367	553	T>K		No	ClinGen TOPMed gnomAD
rs536716418 CA205867903	556	Q>*		No	ClinGen 1000Genomes
rs1342815217 CA663854087	556	Q>L		No	ClinGen Ensembl
TCGA novel	558	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA663854092 rs1369328651	559	E>K		No	ClinGen TOPMed
rs931227016 CA205867907	561	V>A		No	ClinGen TOPMed
rs1439943282 CA663854100	562	I>V		No	ClinGen TOPMed
rs775378970 CA205867909	564	P>L		No	ClinGen TOPMed
rs1322531853 CA663854113	565	F>L		No	ClinGen TOPMed
CA663854118 rs1343440351	566	I>V		No	ClinGen TOPMed
rs1158514908 CA663854121	567	L>S		No	ClinGen TOPMed
CA205867912 rs908209188	568	P>S		No	ClinGen Ensembl
rs1397169789 CA663854125	571	L>V		No	ClinGen TOPMed
CA663854127 rs1192111419	573	E>K		No	ClinGen TOPMed
rs755731947 CA5464654	577	A>T		No	ClinGen ExAC gnomAD
rs1225675147 CA592758646	578	D>N		No	ClinGen TOPMed gnomAD
rs777821131 CA5464655	581	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1900376624 rs1564733550	582	E>D		No	ClinGen Ensembl
rs865916371 CA205868070	582	E>K		No	ClinGen TOPMed
rs865916371 CA205868072	582	E>Q		No	ClinGen TOPMed
CA592758647 rs1253494452	583	Q>E		No	ClinGen gnomAD
rs1005620172 CA205868074	585	Q>*		No	ClinGen TOPMed
CA592758650 rs1366016795	586	K>N		No	ClinGen TOPMed gnomAD
CA205868076 rs1007090335	587	M>R		No	ClinGen TOPMed
rs757067416 CA5464657	591	Q>P		No	ClinGen ExAC gnomAD
CA376504409 rs1418614038	592	T>S		No	ClinGen TOPMed
CA5464659 rs139762456	593	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs775844142 CA5464661	598	K>E		No	ClinGen ExAC gnomAD
CA376504460 rs1257132495	600	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA663882298 rs1441654495	602	D>V		No	ClinGen TOPMed
CA205899180 rs933285103	605	V>G		No	ClinGen TOPMed
CA663882301 rs1252192457	609	N>Y		No	ClinGen TOPMed
CA205899182 rs1050429214	611	M>I		No	ClinGen Ensembl
rs1590873600 CA1900400248	614	N>D		No	ClinGen Ensembl
CA205899184 rs889171976	615	K>E		No	ClinGen TOPMed
CA205899186 rs936754366	616	D>H		No	ClinGen Ensembl
CA205899188 rs986424584	617	S>*		No	ClinGen TOPMed
CA205899190 rs1053625436	619	T>I		No	ClinGen Ensembl
CA205899193 rs892328595	620	K>E		No	ClinGen TOPMed gnomAD
rs1355226919 CA663882312	625	Q>E		No	ClinGen TOPMed
CA663882314 rs1289309582	626	M>T		No	ClinGen TOPMed
rs1412284654 CA663882315	627	K>E		No	ClinGen TOPMed
CA663882319 rs1327649389	631	S>F		No	ClinGen TOPMed
rs973214310 CA205899205	632	S>R		No	ClinGen TOPMed
CA205899207 rs918998322	633	M>I		No	ClinGen TOPMed
rs1392196296 CA663882323	633	M>L		No	ClinGen TOPMed
rs1474643984 CA663882329	634	E>D		No	ClinGen TOPMed
CA205899210 rs780741775	634	E>K		No	ClinGen Ensembl
CA205899212 rs543253049	635	R>T		No	ClinGen 1000Genomes
CA663882339 rs1184075652	636	H>R		No	ClinGen TOPMed
rs886316024 CA205899434	643	P>S		No	ClinGen TOPMed
rs1385933529 CA592762057	644	Q>R		No	ClinGen TOPMed gnomAD
CA205899437 rs990681333	646	P>L		No	ClinGen TOPMed gnomAD
rs1014035285 CA205899443	651	L>S		No	ClinGen TOPMed gnomAD
CA1900400648 rs1590883961	652	V>A		No	ClinGen Ensembl
CA205899445 rs1037102554	653	S>*		No	ClinGen TOPMed
CA663882792 rs1205919296	654	R>G		No	ClinGen TOPMed
rs1564900436 CA913452031	658	E>D		No	ClinGen Ensembl
rs970216165 CA205899450	665	T>A		No	ClinGen TOPMed
rs1434209612 CA592762060	666	R>G		No	ClinGen gnomAD
CA592762062 rs1274247448	667	N>S		No	ClinGen gnomAD
rs1413550775 CA663882823	668	E>D		No	ClinGen TOPMed
CA205899456 rs1033119979	668	E>K		No	ClinGen TOPMed
rs1375344646 CA663882824	671	H>P		No	ClinGen TOPMed
rs78766756 CA205903542	675	D>E		No	ClinGen 1000Genomes TOPMed gnomAD
CA205903543 rs551272846	680	N>S		No	ClinGen 1000Genomes
CA205903544 rs889452776	682	M>T		No	ClinGen TOPMed
CA663879627 rs144925222	683	L>F		No	ClinGen 1000Genomes TOPMed gnomAD
rs144925222 CA205903545	683	L>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA663879633 rs1295793428	684	E>Q		No	ClinGen TOPMed
CA205903546 rs964006631	689	S>T		No	ClinGen Ensembl
rs990074769 CA205903547	690	K>R		No	ClinGen Ensembl
CA592767234 rs1227687794	691	T>A		No	ClinGen TOPMed gnomAD
CA205903548 rs1021582352	691	T>M		No	ClinGen TOPMed gnomAD
rs566800100 CA205903550	695	V>I		No	ClinGen 1000Genomes TOPMed gnomAD
CA205903551 rs183140767	697	K>E		No	ClinGen 1000Genomes TOPMed gnomAD
CA663879660 rs1479961086	700	S>Y		No	ClinGen TOPMed
rs1194087326 CA663879667	703	D>H		No	ClinGen TOPMed
CA205903554 rs991810377	704	N>S		No	ClinGen Ensembl
CA205903555 rs915799184	705	Q>E		No	ClinGen TOPMed
rs780687525 CA205903556	707	S>N		No	ClinGen TOPMed
rs758092068 CA5464702	709	H>L		No	ClinGen ExAC gnomAD
rs1314552895 CA376504605	709	H>Q		No	ClinGen gnomAD
rs1304720610 CA376504609	710	N>Y		No	ClinGen gnomAD
TCGA novel	711	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5464705 rs751725359	713	P>L		No	ClinGen ExAC gnomAD
rs751725359 CA5464704	713	P>Q		No	ClinGen ExAC gnomAD
CA376504633 rs1261229011	714	N>H		No	ClinGen gnomAD
CA5464706 rs552825856	716	R>G		No	ClinGen 1000Genomes gnomAD
CA5464708 rs781449471	716	R>K		No	ClinGen ExAC gnomAD
rs1284733843 CA376504663	718	V>A		No	ClinGen gnomAD
rs1053096660 CA205906650	718	V>I		No	ClinGen TOPMed gnomAD
rs1053096660 CA376504660	718	V>L		No	ClinGen TOPMed gnomAD
CA5464709 rs748203039	719	V>A		No	ClinGen ExAC gnomAD
CA376504670 rs1565134971	720	E>K		No	ClinGen Ensembl
rs145310961 CA5464710	721	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA5464713 rs144991128 CA376504690	722	Q>H		No	ClinGen ESP ExAC gnomAD
rs778101287 CA5464711	722	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	723	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1417401407 CA376504713	726	S>P		No	ClinGen gnomAD
rs148655258 CA5464715	727	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776474332 CA5464717	727	K>N		No	ClinGen ExAC TOPMed gnomAD
rs768413255 CA5464716	727	K>T		No	ClinGen ExAC gnomAD
TCGA novel	728	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5464718 rs761202419	730	L>*		No	ClinGen ExAC gnomAD
CA376504751 CA376504752 rs1762526	732	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5464719 rs1762526	732	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376504766 rs1387525189	734	K>E		No	ClinGen TOPMed
TCGA novel	735	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA205906651 rs142798109	736	E>K		No	ClinGen Ensembl
rs1591585483 CA376504794	737	T>I		No	ClinGen Ensembl
rs1164939162 CA376504799	738	S>A		No	ClinGen gnomAD
CA376504812 rs1391114318	739	T>R		No	ClinGen TOPMed gnomAD
rs1404570735 CA376504821	740	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1355886930 CA376504835	741	Q>*		No	ClinGen gnomAD
CA376504850 rs1307879443	742	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA205906652 rs527725514	742	P>S		No	ClinGen gnomAD
rs995563657 CA205906653	743	L>H		No	ClinGen Ensembl
rs1408692510 CA376504865	744	T>N		No	ClinGen TOPMed gnomAD
CA376505053 rs1361274683	745	T>I		No	ClinGen TOPMed
rs1289367433 CA376505057	746	P>H		No	ClinGen TOPMed
CA5464741 rs774310636	747	D>G		No	ClinGen ExAC TOPMed gnomAD
rs766279928 CA5464740	747	D>H		No	ClinGen ExAC gnomAD
CA376505087 rs1264946329	750	P>R		No	ClinGen gnomAD
rs151050373 CA5464745	751	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs368013760 CA5464747	754	L>F		No	ClinGen ESP ExAC
rs1203648180 CA376505115	754	L>P		No	ClinGen gnomAD
rs1203648180 CA376505114	754	L>R		No	ClinGen gnomAD
rs753937931 CA5464748	755	I>L		No	ClinGen ExAC gnomAD
rs757463742 CA5464749	755	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	757	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779534001 CA5464750	757	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1591615229 CA376505130	757	R>T		No	ClinGen Ensembl
CA5464751 rs371540663	759	Q>*		No	ClinGen ESP ExAC TOPMed
CA5464752 rs758790174	760	D>G		No	ClinGen ExAC gnomAD
rs531804183 CA205906985	762	M>K		No	ClinGen 1000Genomes
CA5464755 rs769484846	763	S>*		No	ClinGen ExAC gnomAD
rs747689885 CA5464754	763	S>A		No	ClinGen ExAC gnomAD
rs769484846 CA5464756	763	S>L		No	ClinGen ExAC gnomAD
CA205906986 rs867324117	765	S>L		No	ClinGen Ensembl
CA5464759 rs774223920	766	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5464762 rs775347373	767	M>I		No	ClinGen ExAC gnomAD
CA5464760 rs374773174	767	M>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs374773174 CA5464761	767	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs760442699 CA5464763	768	Q>H		No	ClinGen ExAC gnomAD
CA5464764 rs570831780	769	V>L		No	ClinGen ExAC gnomAD
CA205906988 rs570831780	769	V>M		No	ClinGen ExAC gnomAD
rs1457081375 CA376505211	770	K>*		No	ClinGen TOPMed
CA5464765 rs532448061	770	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs111537570 CA5464767	772	Q>K		No	ClinGen ExAC TOPMed gnomAD
rs750906357 CA5464768	773	R>I		No	ClinGen ExAC gnomAD
CA376505250 rs1471350258	776	K>E		No	ClinGen TOPMed
CA376505254 rs1160935362	776	K>I		No	ClinGen gnomAD
rs547417608 CA205906989	777	G>E		No	ClinGen 1000Genomes
CA5464769 rs758979320	777	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780494072 CA5464770	779	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs780494072 CA376505271	779	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1565148141 CA376505273	779	R>S		No	ClinGen Ensembl
rs747389449 CA5464771	780	I>S		No	ClinGen ExAC
CA376505277 rs1490822809	780	I>V		No	ClinGen TOPMed
rs1296721152 CA376505289	782	T>A		No	ClinGen gnomAD
rs1213746139 CA376505458	783	H>L		No	ClinGen TOPMed gnomAD
CA205907673 rs1034268963	783	H>Q		No	ClinGen TOPMed
rs1213746139 CA376505456	783	H>R		No	ClinGen TOPMed gnomAD
CA376505507 rs1304706902	787	P>L		No	ClinGen TOPMed gnomAD
CA376505505 rs1304706902	787	P>Q		No	ClinGen TOPMed gnomAD
rs1304706902 CA376505506	787	P>R		No	ClinGen TOPMed gnomAD
rs1228874126 CA376505514	789	K>*		No	ClinGen gnomAD
TCGA novel	790	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376505526 rs768444267	790	N>I		No	ClinGen ExAC gnomAD
CA5464800 rs768444267	790	N>T		No	ClinGen ExAC gnomAD
CA5464801 rs776576396	792	V>A		No	ClinGen ExAC gnomAD
CA376505535 rs1332415837	792	V>M		No	ClinGen gnomAD
rs1316701829 CA376505542	793	L>F		No	ClinGen gnomAD
rs773618804 CA5464805	795	H>P		No	ClinGen ExAC TOPMed gnomAD
CA5464804 rs773618804	795	H>R		No	ClinGen ExAC TOPMed gnomAD
CA5464803 rs144985586	795	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	796	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5464807 rs556688742	796	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
CA5464806 rs556688742	796	Q>K		No	ClinGen 1000Genomes ExAC gnomAD
CA376505576 rs1479021642	798	S>P		No	ClinGen gnomAD
CA376505581 rs1171605311	799	V>L		No	ClinGen gnomAD
CA376505580 rs1171605311	799	V>M		No	ClinGen gnomAD
CA5464808 rs373648573	800	S>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA376505602 rs77776312	802	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77776312 CA5464809	802	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376505603 rs1490187522	803	E>Q		No	ClinGen gnomAD
CA205907674 rs966979099	806	I>T		No	ClinGen TOPMed gnomAD
CA5464810 rs753044160	806	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1565170783 CA376505645	808	K>R		No	ClinGen Ensembl
rs1591673637 CA376505651	809	T>A		No	ClinGen Ensembl
rs756517481 CA205907675	809	T>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	809	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756517481 CA5464811	809	T>N		No	ClinGen ExAC TOPMed gnomAD
rs778503556 CA5464812	810	K>E		No	ClinGen ExAC TOPMed gnomAD
rs750110523 CA5464813	811	K>E		No	ClinGen ExAC TOPMed gnomAD
CA376505665 rs1442861271	811	K>N		No	ClinGen TOPMed
rs1339420726 CA376505671	812	L>P		No	ClinGen gnomAD
TCGA novel	812	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1353275994	812	L>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA376505676 rs1212512233	813	P>H		No	ClinGen gnomAD
CA5464814 rs757879973	814	R>G		No	ClinGen ExAC gnomAD
CA376505680 rs779447340	814	R>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs779447340 CA5464815	814	R>T		No	ClinGen ExAC TOPMed gnomAD
CA5464818 rs781337904	817	R>K		No	ClinGen ExAC gnomAD
CA5464820 rs747936317	818	H>L		No	ClinGen ExAC TOPMed
CA376505709 rs747936317	818	H>P		No	ClinGen ExAC TOPMed
rs747936317 CA5464819	818	H>R		No	ClinGen ExAC TOPMed
CA376505713 rs1262996297	819	S>G		No	ClinGen gnomAD
rs772168377 CA5464847	821	H>Y		No	ClinGen ExAC gnomAD
CA205910315 rs958862071	822	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1309204436 CA376506357	823	E>A		No	ClinGen gnomAD
TCGA novel	823	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376506370 rs1403604794	825	S>T		No	ClinGen TOPMed
rs138341099 CA5464849	826	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5464850 rs761187081	826	G>V		No	ClinGen ExAC gnomAD
rs764380172 CA205910316	829	P>A		No	ClinGen ExAC TOPMed gnomAD
CA376506398 rs1240040941	829	P>R		No	ClinGen gnomAD
rs764380172 CA5464851	829	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5464854 rs765926282	830	M>I		No	ClinGen ExAC gnomAD
CA205910317 rs561015003	830	M>L		No	ClinGen ExAC TOPMed gnomAD
CA5464853 rs762296901	830	M>T		No	ClinGen ExAC TOPMed gnomAD
CA5464852 rs561015003	830	M>V		No	ClinGen ExAC TOPMed gnomAD
rs751267411 CA5464855	831	L>V		No	ClinGen ExAC gnomAD
rs754407746 CA5464856	833	H>Q		No	ClinGen ExAC gnomAD
rs756115545 CA5464859	835	D>E		No	ClinGen ExAC gnomAD
rs767147435 CA5464857	835	D>G		No	ClinGen ExAC TOPMed gnomAD
rs767147435 CA5464858	835	D>V		No	ClinGen ExAC TOPMed gnomAD
CA205910318 rs912270455	837	V>L		No	ClinGen TOPMed gnomAD
rs1334486812 CA376506458	839	K>T		No	ClinGen gnomAD
rs777915302 CA5464860	840	I>M		No	ClinGen ExAC gnomAD
rs1450892485 CA376506465	840	I>V		No	ClinGen gnomAD
rs370453562 CA5464861	842	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs370453562 CA376506478	842	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA376506484 rs1462957448	843	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs543196382 CA5464862	843	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1241646918 CA376506502	845	E>D		No	ClinGen TOPMed
rs200508737 CA5464863	846	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5464864 rs746121865	847	Q>E		No	ClinGen ExAC gnomAD
CA376506512 rs1344735157	847	Q>P		No	ClinGen Ensembl
rs772084713 CA5464865	848	E>G		No	ClinGen ExAC TOPMed gnomAD
rs772084713 CA5464866	848	E>V		No	ClinGen ExAC TOPMed gnomAD
rs747162295 CA5464867	849	T>A		No	ClinGen ExAC gnomAD
rs769142900 CA5464868	849	T>I		No	ClinGen ExAC gnomAD
CA205910319 rs112510748	852	G>E		No	ClinGen TOPMed gnomAD
CA376506541 CA5464869 rs777245208	852	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1315702078 CA376506556	854	G>V		No	ClinGen TOPMed
rs372886513 CA5464870	855	R>C		No	ClinGen ExAC TOPMed gnomAD
rs770227739 CA5464871	855	R>H		No	ClinGen ExAC TOPMed gnomAD
rs949054153 CA205912078	857	I>M		No	ClinGen TOPMed
CA376506766 rs1483559510	857	I>T		No	ClinGen gnomAD
rs568604306 CA5464911	858	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs200558816 CA5464912	859	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs143348207 CA5464913	860	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs143348207 CA205912079	860	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs368264729 CA5464915	861	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA376506812 rs1284535700	862	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1555067686 CA5464917	863	M>I		No	ClinGen Ensembl
rs1272191935 CA376506819	863	M>R		No	ClinGen gnomAD
CA376506818 rs1272191935	863	M>T		No	ClinGen gnomAD
CA5464916 rs557240647	863	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1287203262 CA376506836	866	H>N		No	ClinGen TOPMed
rs371863279 CA5464919	867	Q>*		No	ClinGen ESP ExAC gnomAD
CA5464920 rs765199889	867	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA376506857 rs1301144848	868	D>E		No	ClinGen TOPMed
rs1347393059 CA376506855	868	D>V		No	ClinGen TOPMed
TCGA novel	869	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	869	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1238321602 CA376506870	871	S>T		No	ClinGen gnomAD
rs762701041 CA5464922	872	K>E		No	ClinGen ExAC gnomAD
rs76192964 CA5464924	874	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	874	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5464925 rs755221183	874	Q>R		No	ClinGen ExAC gnomAD
rs752796405 CA205912080 CA5464927	875	M>I		No	ClinGen ExAC TOPMed gnomAD
CA5464926 rs368004952	875	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1410007822 CA376506901	876	Q>*		No	ClinGen TOPMed
rs191616835 CA5464928	877	E>*		No	ClinGen 1000Genomes ExAC
rs778384413 CA5464929	878	K>E		No	ClinGen ExAC TOPMed gnomAD
rs7078124 CA5464931	879	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376506956 rs1296401486	883	P>L		No	ClinGen gnomAD
rs1218347793 CA376506951	883	P>T		No	ClinGen TOPMed
rs1441534579 CA376506958	884	G>R		No	ClinGen gnomAD
TCGA novel	884	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1198168224 CA376506978	887	R>G		No	ClinGen Ensembl
CA376506984 rs1381015632	887	R>S		No	ClinGen TOPMed gnomAD
rs1267099433 CA376506981	887	R>T		No	ClinGen TOPMed
rs779423587 CA5464933	888	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5464934 rs41307551	888	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs779423587 CA376506985	888	R>S		No	ClinGen ExAC TOPMed gnomAD
CA376506993 rs1218538086	889	N>S		No	ClinGen TOPMed
CA5464955 rs147346091	891	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs35373494 CA5464956	891	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1278557143 CA376507025	892	I>M		No	ClinGen TOPMed gnomAD
rs777272358 CA5464958	893	V>I		No	ClinGen ExAC TOPMed gnomAD
CA376507027 rs777272358	893	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1034191687 CA205912299	895	P>L		No	ClinGen TOPMed gnomAD
CA376507040 rs1034191687	895	P>Q		No	ClinGen TOPMed gnomAD
rs1406415367 CA376507044	896	N>D		No	ClinGen TOPMed
rs748852951 CA5464959	896	N>I		No	ClinGen ExAC gnomAD
CA376507049 rs1485046035	897	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	898	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1372426597 CA376507065	899	V>M		No	ClinGen gnomAD
rs774308690 CA5464961	900	I>V		No	ClinGen ExAC gnomAD
rs759332019 CA5464962	901	S>C		No	ClinGen ExAC gnomAD
CA376507083 rs1172954151	902	V>L		No	ClinGen gnomAD
CA5464963 rs771784967	903	H>R		No	ClinGen ExAC gnomAD
rs1392986957 CA376507089	903	H>Y		No	ClinGen gnomAD
rs1410523801 CA376507097	904	Q>*		No	ClinGen TOPMed gnomAD
rs1318773960 CA376507099	904	Q>R		No	ClinGen TOPMed gnomAD
CA5464965 rs560352220	905	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1011054445 CA205912303	909	K>E		No	ClinGen TOPMed
rs1224667205 CA376507136	909	K>N		No	ClinGen gnomAD
rs753956025 CA5464967	910	L>F		No	ClinGen ExAC
CA205912304 rs946733464	911	Q>*		No	ClinGen TOPMed
CA376507156 rs1021822791 CA205912305	912	M>I		No	ClinGen gnomAD
rs1284083875 CA376507153	912	M>T		No	ClinGen TOPMed gnomAD
rs1224059883 CA376507160	913	Q>R		No	ClinGen gnomAD
CA5464968 rs143432018	915	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1192888500 CA376507181	916	K>E		No	ClinGen TOPMed gnomAD
CA376507188 rs1565313200	917	Q>*		No	ClinGen Ensembl
rs750926062 CA5464971	917	Q>H		No	ClinGen ExAC gnomAD
rs1251028990 CA376507191	917	Q>P		No	ClinGen gnomAD
CA376507221 rs1158924959	921	G>V		No	ClinGen gnomAD
rs150581470 CA5464972	922	V>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs780299983 CA5464973	923	E>G		No	ClinGen ExAC gnomAD
rs371773173 CA376507247 CA5464974	925	H>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	926	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1394519257 CA376507257	927	T>A		No	ClinGen gnomAD
CA5464997 rs753507072	927	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs745448045 CA5465000	929	P>L		No	ClinGen ExAC gnomAD
rs778291280 CA5464999	929	P>T		No	ClinGen ExAC gnomAD
rs1364221419 CA376507284	930	L>I		No	ClinGen gnomAD
TCGA novel	931	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376507291 rs1231689225	931	E>K		No	ClinGen gnomAD
rs1324797903 CA376507304	932	I>N		No	ClinGen gnomAD
CA376507310 rs1271317007	933	K>R		No	ClinGen TOPMed
CA376507322 rs1280109377	935	K>Q		No	ClinGen gnomAD
CA205912334 rs746771385	936	D>G		No	ClinGen ExAC TOPMed gnomAD
CA5465004 rs780090041	936	D>H		No	ClinGen ExAC gnomAD
CA205912333 rs780090041	936	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5465005 rs746771385	936	D>V		No	ClinGen ExAC TOPMed gnomAD
CA376507339 rs1212735438	937	I>M		No	ClinGen gnomAD
rs1389960275 CA376507337	937	I>T		No	ClinGen TOPMed
rs768602947 CA5465006	937	I>V		No	ClinGen ExAC TOPMed gnomAD
CA5465007 rs776944539	939	L>R		No	ClinGen ExAC gnomAD
rs556549428 CA5465008	941	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs773163150 CA5465010	943	L>W		No	ClinGen ExAC TOPMed gnomAD
CA205912335 rs1013574812	945	E>K		No	ClinGen TOPMed gnomAD
CA5465012 rs766761350	946	E>Q		No	ClinGen ExAC gnomAD
CA205912336 rs1022980705	950	L>V		No	ClinGen gnomAD
rs759840368 CA5465014	952	R>G		No	ClinGen ExAC gnomAD
rs753421053 CA5465016	954	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5465017 rs753421053	954	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1342491423 CA376507453	955	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1213136078 CA376507477	958	K>N		No	ClinGen TOPMed
rs1236414394 CA376507474	958	K>R		No	ClinGen TOPMed gnomAD
CA5465021 rs757968085	959	K>E		No	ClinGen ExAC TOPMed gnomAD
CA376507495 rs1485237322	961	Q>R		No	ClinGen gnomAD
CA205912337 rs560519847	963	K>E		No	ClinGen 1000Genomes TOPMed
CA205912338 rs572255467	964	V>E		No	ClinGen 1000Genomes
CA376507518 rs1237359743	965	T>A		No	ClinGen TOPMed
rs1316655357 CA376507521	965	T>I		No	ClinGen TOPMed
rs746965749 CA5465023	966	S>*		No	ClinGen ExAC gnomAD
rs1592673475 CA376505736	969	I>N		No	ClinGen Ensembl
CA376505767 rs1396744165	973	A>E		No	ClinGen gnomAD
rs1157072491 CA376505763	973	A>P		No	ClinGen gnomAD
rs1243165686 CA376505769	974	A>P		No	ClinGen TOPMed
CA376505779 rs1325365306	975	S>L		No	ClinGen TOPMed gnomAD
rs1385076478 CA376505812	980	T>R		No	ClinGen gnomAD
CA5465034 rs185065690	982	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA376505838 rs1445301841	984	L>H		No	ClinGen TOPMed
CA376505835 rs1233728971	984	L>I		No	ClinGen Ensembl
CA5465035 rs772633539	986	A>S		No	ClinGen ExAC gnomAD
rs772633539 CA376505847	986	A>T		No	ClinGen ExAC gnomAD
rs1366410440 CA376505855	987	M>T		No	ClinGen gnomAD
rs73255967 CA5465036	987	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376505872 rs991015708	989	P>L		No	ClinGen TOPMed gnomAD
CA205929615 rs991015708	989	P>R		No	ClinGen TOPMed gnomAD
rs572731029 CA205929621	993	D>N		No	ClinGen 1000Genomes gnomAD
rs1179479587 CA376505912	995	I>M		No	ClinGen gnomAD
rs978754262 CA205929623	997	Q>R		No	ClinGen TOPMed
CA205929625 rs267602473	999	D>N		No	ClinGen Ensembl
CA376505953 rs1418896704	1001	N>S		No	ClinGen gnomAD
rs1180162748 CA376505958	1002	K>E		No	ClinGen gnomAD
rs1462218812 CA376505976	1004	V>G		No	ClinGen gnomAD
rs1045137650 CA205929628	1005	E>K		No	ClinGen gnomAD
rs368624786 CA5465050	1006	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs370859338 CA376506596	1007	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA5465052 rs370859338	1007	D>Y		No	ClinGen ESP ExAC gnomAD
rs143734707 CA5465054	1008	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA205935170 rs1020139855	1009	E>G		No	ClinGen Ensembl
rs146821174 CA5465057	1011	L>W		No	ClinGen ESP ExAC TOPMed
rs558645710 CA5465058	1012	R>K		No	ClinGen 1000Genomes ExAC gnomAD
rs374169292 CA5465059	1013	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1013	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs997310836 CA205935178	1015	L>S		No	ClinGen Ensembl
rs1226844236 CA376506659	1017	R>*		No	ClinGen gnomAD
rs1226844236 CA376506658	1017	R>G		No	ClinGen gnomAD
rs766205215 CA5465060	1018	R>C		No	ClinGen ExAC TOPMed gnomAD
CA5465061 rs368045904	1018	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1021	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868347864 CA205935186	1023	E>K		No	ClinGen Ensembl
CA5465065 rs755802868	1025	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1592938633 CA376506729	1027	Q>*		No	ClinGen Ensembl
TCGA novel	1029	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777624661 CA5465066	1030	S>I		No	ClinGen ExAC gnomAD
CA5465067 rs753642646	1031	F>L		No	ClinGen ExAC gnomAD
CA5465068 rs757487254	1032	P>S		No	ClinGen ExAC TOPMed gnomAD
CA205935193 rs968818107	1033	G>R		No	ClinGen TOPMed
rs760654136 CA5465082	1034	P>S		No	ClinGen ExAC TOPMed gnomAD
CA5465083 rs763994943	1035	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5465084 rs753643900	1037	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs757083411 CA5465085	1038	Q>K		No	ClinGen ExAC gnomAD
TCGA novel	1040	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376507614 rs1440820288	1041	D>E		No	ClinGen gnomAD
rs750665919 CA5465087	1043	F>L		No	ClinGen ExAC TOPMed gnomAD
CA376507630 rs1230102258	1044	G>R		No	ClinGen gnomAD
CA376507634 rs1224506154	1045	R>G		No	ClinGen gnomAD
rs1268695759 CA376507645	1046	D>G		No	ClinGen gnomAD
TCGA novel	1046	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs530294108 CA5465089	1047	I>L		No	ClinGen 1000Genomes ExAC gnomAD
CA376507652 rs1359089992	1047	I>T		No	ClinGen TOPMed
TCGA novel	1047	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5465090 rs548466362	1048	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376507674 rs1273968291	1050	D>E		No	ClinGen gnomAD
rs1244718813 CA376507680	1051	E>D		No	ClinGen gnomAD
CA5465092 rs781603135	1051	E>G		No	ClinGen ExAC gnomAD
CA5465091 rs74843272	1051	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5465094 rs770301816	1054	T>I		No	ClinGen ExAC gnomAD
rs140481991 CA5465095	1055	R>*	Variant assessed as Somatic; 0.0003364 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA376507703 rs117833411	1055	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117833411 CA5465097	1055	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs117833411 CA5465096	1055	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1394597705 CA376507709	1056	S>L		No	ClinGen gnomAD
CA5465099 rs760150402	1060	P>L		No	ClinGen ExAC gnomAD
CA205937548 rs537308273	1061	E>K		No	ClinGen 1000Genomes
rs35739764 CA5465119	1062	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5465120 rs141120507	1063	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs150244922 CA205940354	1063	D>V		No	ClinGen ESP TOPMed
CA376507768 rs1214943012	1064	E>K		No	ClinGen TOPMed
rs769791393 CA5465122	1065	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5465123 rs772981905	1065	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1411195459 CA376507784	1066	L>F		No	ClinGen gnomAD
rs751765123 CA5465126	1067	H>R		No	ClinGen ExAC gnomAD
CA5465125 rs375999634	1067	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA376507809 rs1258207571	1070	T>N		No	ClinGen Ensembl
CA205940367 rs369878312	1073	G>D		No	ClinGen ESP TOPMed
CA5465128 rs141211370	1073	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1342645830 CA376507833	1074	T>A		No	ClinGen TOPMed
CA376507835 rs752889474	1074	T>I		No	ClinGen ExAC gnomAD
CA5465129 rs752889474	1074	T>K		No	ClinGen ExAC gnomAD
rs1399225681 CA376507842	1075	I>M		No	ClinGen TOPMed
CA376507845 rs1168539153	1076	N>D		No	ClinGen gnomAD
rs778472085 CA5465131	1076	N>S		No	ClinGen ExAC TOPMed gnomAD
CA5465132 rs754222212	1077	D>Y		No	ClinGen ExAC gnomAD
rs886817798 CA205940375	1078	A>G		No	ClinGen gnomAD
rs886817798 CA376507861	1078	A>V		No	ClinGen gnomAD
rs1336170404 CA376507868	1079	I>M		No	ClinGen TOPMed
rs1412694891 CA376507869	1080	K>*		No	ClinGen TOPMed
rs146947430 CA5465136	1081	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs376967626 CA205940384	1083	L>*		No	ClinGen ESP TOPMed gnomAD
CA376507901 rs1191927504	1084	K>N		No	ClinGen TOPMed
CA5465138 rs780565689	1084	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1340027723 CA376507907	1085	R>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs867083695 CA205940391	1089	P>S		No	ClinGen Ensembl
rs775884099 CA5465169	1090	E>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs760787660 CA5465170	1090	E>D		No	ClinGen ExAC gnomAD
rs764282575 CA376507958	1091	T>A		No	ClinGen ExAC TOPMed gnomAD
rs777212220 CA5465172	1091	T>I		No	ClinGen ExAC
CA5465171 rs764282575	1091	T>S		No	ClinGen ExAC TOPMed gnomAD
rs898845646 CA205943122	1093	L>V		No	ClinGen Ensembl
rs1321639470 CA376507974	1094	K>E		No	ClinGen TOPMed
rs200088472 CA5465175	1095	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1396804255 CA376507983	1095	H>R		No	ClinGen gnomAD
rs200088472 CA5465174	1095	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA376508000 rs1431078802	1097	K>N		No	ClinGen gnomAD
CA5465178 rs752372094	1098	G>D		No	ClinGen ExAC TOPMed gnomAD
rs752372094 CA376508006	1098	G>V		No	ClinGen ExAC TOPMed gnomAD
CA376508009 rs1405340152	1099	V>I		No	ClinGen TOPMed
CA5465181 rs143370393	1101	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1227412012 CA376508021	1101	G>R		No	ClinGen gnomAD
rs778947820 CA5465184	1103	D>V		No	ClinGen ExAC gnomAD
TCGA novel	1105	I>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376508053 rs1457394567	1105	I>T		No	ClinGen TOPMed
rs1019805985 CA205943145	1107	H>L		No	ClinGen Ensembl
CA376508073 rs1197922739	1108	L>P		No	ClinGen gnomAD
CA376508092 rs1180319668	1111	I>L		No	ClinGen gnomAD
CA205943148 rs910278485	1111	I>T		No	ClinGen TOPMed
rs1180319668 CA376508091	1111	I>V		No	ClinGen gnomAD
CA5465186 rs569021966	1112	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs775796170 CA5465187	1112	Q>R		No	ClinGen ExAC gnomAD
CA5465189 rs769066787	1115	S>C		No	ClinGen ExAC gnomAD
rs769066787 CA5465190	1115	S>G		No	ClinGen ExAC gnomAD
CA376508128 rs1305763288	1116	H>Q		No	ClinGen gnomAD
CA376508122 rs1408792913	1116	H>Y		No	ClinGen gnomAD
CA5465191 rs4448627 VAR_033692	1117	G>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA205943160 rs4448627	1117	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs4448627 CA5465192	1117	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5465205 rs746859333	1119	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5465206 rs768979024	1121	K>E		No	ClinGen ExAC gnomAD
CA376508186 rs1282999886	1123	H>L		No	ClinGen gnomAD
TCGA novel	1123	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1226636620 CA376508183	1123	H>Y		No	ClinGen gnomAD
CA376508213 rs1486869980	1127	D>A		No	ClinGen gnomAD
rs922328369 CA205945640	1127	D>E		No	ClinGen TOPMed gnomAD
CA376508222 rs1248553678	1128	T>I		No	ClinGen gnomAD
rs543326291 CA5465208	1129	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1186363455 CA376508228	1130	R>G		No	ClinGen gnomAD
CA205945642 rs892168442	1131	G>A		No	ClinGen TOPMed gnomAD
rs892168442 CA376508238	1131	G>D		No	ClinGen TOPMed gnomAD
CA205945643 rs769941813	1132	I>L		No	ClinGen ExAC gnomAD
CA5465209 rs769941813	1132	I>V		No	ClinGen ExAC gnomAD
CA376508245 rs1174953177	1133	I>V		No	ClinGen gnomAD
rs773537584 CA5465210	1134	K>T		No	ClinGen ExAC TOPMed gnomAD
rs763458755 CA5465211	1135	G>R		No	ClinGen ExAC gnomAD
CA205945649 rs561388425	1136	S>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs771481699 CA5465212	1137	I>N		No	ClinGen ExAC gnomAD
rs543428411 CA5465213	1138	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5465215 rs763693302	1139	A>E		No	ClinGen ExAC gnomAD
rs759930308 CA5465214	1139	A>T		No	ClinGen ExAC TOPMed gnomAD
CA205945660 rs745586854	1140	Q>H		No	ClinGen TOPMed
CA5465218 rs565085027	1145	Q>R		No	ClinGen 1000Genomes ExAC gnomAD
rs749967700 CA5465219	1146	K>*		No	ClinGen ExAC gnomAD
TCGA novel	1146	K>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs189384115 CA5465232	1146	K>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376508354 rs1291911413	1148	D>A		No	ClinGen TOPMed gnomAD
CA205945724 rs957860548	1148	D>E		No	ClinGen Ensembl
TCGA novel	1149	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1149	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771787671 CA5465233	1150	N>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1151	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199969144 CA5465238	1154	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs749927730 CA5465236	1154	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5465235 rs764855777	1154	Y>D		No	ClinGen ExAC gnomAD
CA205945734 rs919433282	1157	G>*		No	ClinGen Ensembl
rs1410817396 CA376508416	1157	G>V		No	ClinGen gnomAD
rs1565688136 CA376508423	1158	R>S		No	ClinGen Ensembl
rs1164553616 CA376508426	1159	G>D		No	ClinGen gnomAD
rs751571795 CA5465239	1159	G>S		No	ClinGen ExAC gnomAD
CA376508441 rs1415150562	1161	M>I		No	ClinGen gnomAD
TCGA novel	1162	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5465241 rs754765857	1163	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1405295728 CA376508451	1163	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5465240 rs754765857	1163	E>V		No	ClinGen ExAC TOPMed gnomAD
CA5465242 rs752505788	1165	T>A		No	ClinGen ExAC TOPMed gnomAD
rs181757977 CA5465244	1166	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA376508474 rs1416689408	1167	T>A		No	ClinGen gnomAD
rs1322895505 CA376508480	1168	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs757348256 CA5465246	1168	Q>L		No	ClinGen ExAC gnomAD
rs1287416898 CA376508500	1170	K>N		No	ClinGen gnomAD
CA376508497 rs1227688341	1170	K>R		No	ClinGen gnomAD
CA376508501 rs1565688568	1171	S>R		No	ClinGen Ensembl
rs746377850 CA5465249	1173	P>L		No	ClinGen ExAC gnomAD
CA205945847 rs1012930757	1174	E>G		No	ClinGen TOPMed
CA5465266 rs77450542	1176	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1450713860 CA376508548	1176	D>Y		No	ClinGen gnomAD
TCGA novel	1177	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA205945852 rs200746643	1184	I>T		No	ClinGen TOPMed gnomAD
rs758917598 CA5465267	1185	G>R		No	ClinGen ExAC gnomAD
rs542812339 CA5465268	1186	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5465269 rs747348739	1187	G>S		No	ClinGen ExAC gnomAD
CA376508630 rs1390490850	1188	I>T		No	ClinGen gnomAD
rs139269221 CA5465270	1189	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1322719009 CA376508638	1189	I>T		No	ClinGen gnomAD
rs1321466392 CA376508645	1190	I>M		No	ClinGen gnomAD
rs1435741531 CA376508659	1193	I>V		No	ClinGen TOPMed gnomAD
rs1186043287 CA376508701	1199	S>N		No	ClinGen TOPMed
CA376508710 rs1259900192	1200	H>R		No	ClinGen TOPMed
rs1475561716 CA376508708	1200	H>Y		No	ClinGen TOPMed
CA5465273 rs201575874	1201	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA376508717 rs1343929456	1201	R>L		No	ClinGen TOPMed gnomAD
CA376508715 rs1343929456	1201	R>Q		No	ClinGen TOPMed gnomAD
rs144109242 CA376508736 CA5465297	1202	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA5465274 rs773990611	1202	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	1203	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1184649725 CA376508749	1204	D>E		No	ClinGen gnomAD
rs761645088 CA5465298	1204	D>G		No	ClinGen ExAC
CA5465299 rs765393469	1206	E>G		No	ClinGen ExAC gnomAD
rs750642049 CA5465300	1207	L>I		No	ClinGen ExAC gnomAD
CA376508774 rs1593391914	1208	L>*		No	ClinGen Ensembl
TCGA novel	1208	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5465301 rs763021197	1210	D>G		No	ClinGen ExAC gnomAD
CA376508786 rs1565692307	1210	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	1211	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766380549 CA5465302	1212	I>L		No	ClinGen ExAC gnomAD
CA5465303 rs543689014	1212	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA376508798 rs766380549	1212	I>V		No	ClinGen ExAC gnomAD
rs755534352 CA5465304	1217	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1428597242 CA376508837	1218	K>Q		No	ClinGen TOPMed
CA205945984 rs1035330663	1219	G>E		No	ClinGen Ensembl
CA376508850 rs1408682023	1220	P>T		No	ClinGen gnomAD
rs753067149 CA5465307	1222	S>G		No	ClinGen ExAC
rs1246193357 CA376508867	1222	S>I		No	ClinGen TOPMed gnomAD
rs1246193357 CA376508865	1222	S>N		No	ClinGen TOPMed gnomAD
CA205945990 rs990497219	1223	A>T		No	ClinGen Ensembl
rs146319159 CA376508881	1224	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs778644153 CA5465309	1225	L>I		No	ClinGen ExAC gnomAD
CA5465310 rs745522657	1227	S>R		No	ClinGen ExAC gnomAD
rs139631138 CA376508913	1229	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139631138 CA5465311	1229	Q>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779426860 CA5465312	1229	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1188205577 CA376508914	1229	Q>P		No	ClinGen gnomAD
CA5465334 rs781039148	1231	T>N		No	ClinGen ExAC gnomAD
CA5465335 rs375379901	1232	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs202047716 CA5465336	1233	V>G		No	ClinGen 1000Genomes ExAC gnomAD
CA376508963 rs772875271	1235	P>A		No	ClinGen ExAC TOPMed gnomAD
rs772875271 CA5465337	1235	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1232533682 CA376508970	1236	L>S		No	ClinGen gnomAD
TCGA novel	1237	T>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA376508981 rs1261351046	1238	N>D		No	ClinGen gnomAD
TCGA novel	1238	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5465338 rs749144031	1239	A>V		No	ClinGen ExAC gnomAD
rs771032520 CA5465339	1240	I>V		No	ClinGen ExAC TOPMed gnomAD
CA376509014 rs1412934598	1243	S>N		No	ClinGen gnomAD
CA205946356 rs1047183903	1246	I>N		No	ClinGen TOPMed gnomAD
rs774670210 CA5465340	1246	I>V		No	ClinGen ExAC gnomAD
CA5465341 rs528870586	1247	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1248	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767721841 CA5465342	1248	E>V		No	ClinGen ExAC gnomAD
rs775773534 CA5465344	1249	I>T		No	ClinGen ExAC
rs1187248755 CA376509069	1251	T>I		No	ClinGen TOPMed
CA376509072 rs1459251658	1252	Q>*		No	ClinGen gnomAD
rs764703380 CA5465346	1253	L>V		No	ClinGen ExAC TOPMed gnomAD
CA5465347 rs754131648	1257	Y>C		No	ClinGen ExAC gnomAD
rs145220925 CA5465364	1260	N>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765090448 CA5465365	1262	F>L		No	ClinGen ExAC TOPMed gnomAD
rs775681752 CA5465366	1263	K>I		No	ClinGen ExAC
rs1253844529 CA376509167	1264	N>S		No	ClinGen TOPMed gnomAD
rs760887662 CA5465367	1265	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5465370 rs762016233	1266	D>E		No	ClinGen ExAC TOPMed gnomAD
rs768994985 CA5465369	1266	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5465368 rs768994985	1266	D>Y		No	ClinGen ExAC gnomAD
rs750843554 CA5465372	1267	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA376509187 rs2504011	1267	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2504011 VAR_024308 CA5465371	1267	M>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1387416191 CA376509193	1268	S>Y		No	ClinGen TOPMed
rs202101331 CA5465375	1269	V>I	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5465376 rs752177512	1270	Q>E		No	ClinGen ExAC gnomAD
rs1415188403 CA376509210	1271	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA376509212 rs1424356002	1271	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5465378 rs755669270	1273	E>V		No	ClinGen ExAC gnomAD
TCGA novel	1274	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777509300 CA5465379	1274	G>R		No	ClinGen ExAC TOPMed gnomAD
rs777509300 CA376509229	1274	G>S		No	ClinGen ExAC TOPMed gnomAD
CA5465380 rs147960375	1275	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs147960375 CA376509234	1275	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1352876125 CA376509244	1276	F>S		No	ClinGen gnomAD
rs1004596073 CA205946560	1278	R>K		No	ClinGen TOPMed gnomAD
CA5465382 rs778850330	1279	S>C		No	ClinGen ExAC gnomAD
CA376509306 rs1312730603	1285	F>S		No	ClinGen TOPMed gnomAD
CA205946566 rs975325994	1286	P>L		No	ClinGen Ensembl
rs141718517 CA5465386	1287	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs921167122 CA205946570	1288	K>E		No	ClinGen Ensembl
CA5465387 rs768785621	1289	V>A		No	ClinGen ExAC gnomAD
rs1372524706 CA376509350	1292	L>S		No	ClinGen gnomAD
rs1264399495 CA376509348	1292	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA376509355 rs1219242633	1293	S>P		No	ClinGen TOPMed
CA205946573 rs947278709	1294	P>T		No	ClinGen Ensembl
CA376509374 rs1260591035	1296	E>Q		No	ClinGen TOPMed
CA376509398 rs776945679	1299	E>*		No	ClinGen ExAC gnomAD
rs776945679 CA5465389	1299	E>K		No	ClinGen ExAC gnomAD
rs370936864 CA376509424	1301	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs370936864 CA5465404	1301	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747268955 CA5465406	1302	Y>S		No	ClinGen ExAC gnomAD
rs1192933580 CA376509437	1303	E>*		No	ClinGen gnomAD
CA376509440 rs1342271514	1303	E>A		No	ClinGen gnomAD
rs1209095824 CA376509462	1306	S>L		No	ClinGen TOPMed gnomAD
rs1479164484 CA376509467	1307	P>R		No	ClinGen gnomAD
CA205947258 rs1028177874	1309	V>L		No	ClinGen TOPMed gnomAD
CA376509490 rs1428736019	1311	A>S		No	ClinGen gnomAD
rs1285158357 CA376509496	1312	P>H		No	ClinGen TOPMed
CA5465407 rs755211888	1312	P>S		No	ClinGen ExAC TOPMed gnomAD
rs375125247 CA5465408	1317	Y>C		No	ClinGen ESP ExAC gnomAD
TCGA novel	1318	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147088840 CA205947262	1318	R>K		No	ClinGen ESP TOPMed gnomAD
rs1287483118 CA376509550	1320	Y>*		No	ClinGen TOPMed
CA5465410 rs770261476	1320	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA376509554 rs773726700	1321	R>K		No	ClinGen ExAC gnomAD
CA205947274 rs889135223	1321	R>S		No	ClinGen TOPMed
rs773726700 CA5465411	1321	R>T		No	ClinGen ExAC gnomAD
TCGA novel	1323	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA205947276 rs1036232381	1325	S>G		No	ClinGen TOPMed
CA205947278 rs922962884	1325	S>N		No	ClinGen Ensembl
rs1435071203 CA376509591	1327	S>A		No	ClinGen TOPMed
rs1274891325 CA376509594	1327	S>F		No	ClinGen gnomAD
rs771302014 CA5465413	1328	K>E		No	ClinGen ExAC TOPMed gnomAD
CA376509603 rs1270512838	1329	D>H		No	ClinGen gnomAD
CA376509612 rs1253836458	1330	I>L		No	ClinGen TOPMed gnomAD
CA376509619 rs1330431087	1331	H>Y		No	ClinGen TOPMed gnomAD
rs1434269940 CA376509655	1336	N>K		No	ClinGen TOPMed
CA5465417 rs776184111	1337	Q>E		No	ClinGen ExAC gnomAD
CA376509666 rs1270013905	1338	L>F		No	ClinGen TOPMed
rs1199807666 CA376509670	1339	P>S		No	ClinGen gnomAD
rs1392042493 CA376509681	1340	S>L		No	ClinGen gnomAD
CA205947291 rs962400708	1341	G>W		No	ClinGen TOPMed gnomAD
rs761341812 CA376509709	1343	S>*		No	ClinGen ExAC TOPMed gnomAD
rs761341812 CA5465437	1343	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5465439 rs374927283	1344	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA376509752 rs1565719574	1350	Q>*		No	ClinGen Ensembl
rs1309287946 CA376509791	1355	F>Y		No	ClinGen gnomAD
rs762976940 CA5465442	1357	L>V		No	ClinGen ExAC gnomAD
rs751343417 CA5465443	1358	P>R		No	ClinGen ExAC gnomAD
rs989182096 CA205947809	1362	N>S		No	ClinGen TOPMed
TCGA novel	1363	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754749087 CA5465444	1363	T>I		No	ClinGen ExAC TOPMed gnomAD
rs752863468 CA5465446	1364	V>A		No	ClinGen ExAC TOPMed gnomAD
VAR_033693 rs1418538 CA5465445	1364	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA376509841 rs1418538	1364	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA376509848 rs1217877346	1365	G>E		No	ClinGen TOPMed
rs1207608418 CA376509845	1365	G>R		No	ClinGen gnomAD
rs367590936 CA205947816	1367	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed
CA376509869 rs1275660259	1368	T>I		No	ClinGen gnomAD
CA5465462 rs190322939	1371	V>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5465463 rs767226212	1375	A>V		No	ClinGen ExAC gnomAD
CA376509932 rs752559755	1376	A>S		No	ClinGen ExAC TOPMed gnomAD
rs752559755 CA5465464	1376	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1176275447 CA376509935	1376	A>V		No	ClinGen TOPMed gnomAD
rs760860139 CA5465465	1377	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs760860139 CA5465466	1377	R>G		No	ClinGen ExAC gnomAD
rs201018466 CA5465467	1377	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5465468 rs757360712	1379	S>P		No	ClinGen ExAC gnomAD
TCGA novel	1379	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380788650 CA376509955	1380	V>A		No	ClinGen TOPMed gnomAD
CA5465469 rs779410834	1380	V>I		No	ClinGen ExAC gnomAD
rs1303454654 CA376509958	1381	P>S		No	ClinGen TOPMed gnomAD
CA376509957 rs1303454654	1381	P>T		No	ClinGen TOPMed gnomAD
CA5465470 rs750909779	1382	H>Q		No	ClinGen ExAC gnomAD
rs780275693 CA5465472	1384	Y>*		No	ClinGen ExAC gnomAD
CA376509978 rs1262360443	1384	Y>C		No	ClinGen gnomAD
CA5465471 rs149249470	1384	Y>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA376509986 rs1212719512	1385	F>S		No	ClinGen TOPMed
CA5465473 rs747419058	1386	F>G		No	ClinGen ExAC gnomAD
CA376509989 rs747419058	1386	F>R		No	ClinGen ExAC gnomAD

No associated diseases with Q96M83

2 regional properties for Q96M83

Type	Name	Position	InterPro Accession
domain	Pheophorbide a oxygenase	296 - 390	IPR013626
domain	Rieske [2Fe-2S] iron-sulphur domain	87 - 200	IPR017941

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

No GO annotations of cellular component

Name	Definition
No GO annotations for cellular component

No GO annotations of molecular function

Name	Definition
No GO annotations for molecular function

No GO annotations of biological process

Name	Definition
No GO annotations for biological process

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9D541	Ccdc7	Coiled-coil domain-containing protein 7	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MKPVKHLLTT	SNKSANVPAL	TTKKGLHNLP	LSPELKEKHN	AKLIHDKIEP	MVLRSPPTGE
70	80	90	100	110	120
SILRYALPIP	SSKTKNLLPE	DEMIGKIIKH	LKMVVSTLEE	TYGHCDQNGE	EPFVKHEHEE
130	140	150	160	170	180
LSLSVGDDMN	SFLTYCSQFA	AQLEEALKEE	QNILESLFKW	FQWQVNQMEE	ISKDQTLLQA
190	200	210	220	230	240
EPPKPDKTVI	LNIAEIVRLV	QRFEELKNRL	KQRSKSSVKV	MLSKTMDKEN	RPEAVKSCEA
250	260	270	280	290	300
LAQKIEEFLE	AHSTDEFKDV	SATEPQTAHS	MTNRFNAMLK	VFENQANMLE	RAVNDQVLLD
310	320	330	340	350	360
AEYKQMQCDF	QLLSEEKLVL	ENELQKLKDK	EKTKPTNNRT	KKAVKTVKKK	DKGKSEDSEK
370	380	390	400	410	420
KMSPEKEFKI	KEDLDQVQKV	ARLEIENKVL	QEQLKQALQE	AEKAKHQLNY	FLNQEKLLKS
430	440	450	460	470	480
EGKTETTMQV	GNSQTKVKGE	DSKNIPLEKE	TRKSLVSDSG	GQRTSDKIQE	YPQITAQSGR
490	500	510	520	530	540
LIEKSSEKKR	SSPAISDLSQ	ILKSQDESAF	LESSNEVSVA	ENQSYKSPSE	THDKSLTTVS
550	560	570	580	590	600
SSKEVQDSLS	VGTLAQKNET	VISPFILPPV	LTESKKADVS	EEQLQKMTEE	QTYQAAEKSQ
610	620	630	640	650	660
ADSEVPDENL	MVENKDSVTK	VQIEQMKQRT	SSMERHEETL	TTPQLPEDMV	LVSRIQSETK
670	680	690	700	710	720
NLKATRNESF	HSHNDVPEEN	LMLEQDTKSK	TEVEVKKQKS	FQDNQLSTHN	EVPNERLVVE
730	740	750	760	770	780
HQESLSKTKL	QIKKQETSTE	QPLTTPDKEP	NENLILRHQD	SMSKSEMQVK	EQRTLKGQRI
790	800	810	820	830	840
ITHDEEPGKN	LVLEHQDSVS	KLEMQIEKTK	KLPREKRHST	HDEESGENPM	LKHQDSVSKI
850	860	870	880	890	900
QVQLEIQETS	EGEGRSIPDK	NSMFVHQDSV	SKLQMQEKKK	ITPGRERRNT	RIVVPNENVI
910	920	930	940	950	960
SVHQDSKSKL	QMQEKKQINS	GVERHKTFPL	EIKKKDISLE	HLLPEEKVLL	SRSESQTKKL
970	980	990	1000	1010	1020
QAKVTSRKIK	NEAASELPDT	AENLPAMYPS	ISDLIIQFDL	NKVVETDIES	LRGALGRRLL
1030	1040	1050	1060	1070	1080
NDEFKTQSKS	FPGPDIEQLT	DAFGRDILKD	EFKTRSKSLP	ETDERLHSTT	ERGTINDAIK
1090	1100	1110	1120	1130	1140
TQLKRKSYPE	TVLKHLKGVN	GKDIIKHLIN	IQSKSHGETD	KEHLADDTGR	GIIKGSINAQ
1150	1160	1170	1180	1190	1200
LKGHQKTDKN	FFAYATGRGL	MKESTTTQLK	SHPETDKEFL	ADAIGRGIII	GPITTQLKSH
1210	1220	1230	1240	1250	1260
RETDKELLKD	AIGRDIIKGP	ISAQLKSHQE	TDVEPLTNAI	GSSKTIGEIK	TQLRTHYDVN
1270	1280	1290	1300	1310	1320
LFKNKDMSVQ	RQEGIFTRSI	TPSKFPTKVI	NLSPFENKEE	TYEYSSPYVT	APSKAIYRTY
1330	1340	1350	1360	1370	1380
RAGPSFSKDI	HLPLLNQLPS	GHSKVVTLSQ	KTIEFTLPTV	TNTVGKPTYK	VLHAAARKSV

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