AiPD: Autoinhibited Protein Database

P35251

Gene name	RFC1 (RFC140)
Protein name	Replication factor C subunit 1
Names	Activator 1 140 kDa subunit, A1 140 kDa subunit, Activator 1 large subunit, Activator 1 subunit 1, DNA-binding protein PO-GA, Replication factor C 140 kDa subunit, RF-C 140 kDa subunit, RFC140, Replication factor C large subunit
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5981
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-425 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-425 (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

5 structures for P35251

Entry ID	Method	Resolution	Chain	Position	Source
2EBU	NMR	-	A	392-496	PDB
2K6G	NMR	-	A	375-480	PDB
2K7F	NMR	-	A	375-480	PDB
6VVO	EM	340 A	A	556-1148	PDB
AF-P35251-F1	Predicted				AlphaFoldDB

813 variants for P35251

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1739849007 RCV001331820	133	N>S	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome [ClinVar]	Yes	ClinVar dbSNP
rs190369900 CA2893544	4	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA2893545 rs768465738	4	R>W		No	ClinGen ExAC gnomAD
CA356635904 rs1390785482	8	G>E		No	ClinGen gnomAD
rs1205443032 CA356635891	10	I>V		No	ClinGen TOPMed
rs1190401351 CA356635843	12	S>G		No	ClinGen TOPMed gnomAD
CA2893542 rs757307308	13	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1182085253 CA356635745	16	L>V		No	ClinGen TOPMed
CA2893540 rs61759896	18	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2893539 rs753085990	20	T>I		No	ClinGen ExAC TOPMed gnomAD
CA2893538 rs753085990	20	T>K		No	ClinGen ExAC TOPMed gnomAD
rs753463107 CA2893535	24	N>S		No	ClinGen ExAC gnomAD
TCGA novel	25	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1277443149 CA356635509	26	K>R		No	ClinGen gnomAD
CA356635487 rs1232681406	27	T>I		No	ClinGen TOPMed gnomAD
CA356635481 rs1232681406	27	T>R		No	ClinGen TOPMed gnomAD
CA2893534 rs765960748 COSM254917	28	K>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA356635253 rs945708128	36	A>E		No	ClinGen TOPMed
CA95685779 rs945708128	36	A>G		No	ClinGen TOPMed
CA356635260 rs1307655865	36	A>T		No	ClinGen TOPMed gnomAD
CA2893531 rs772638183	37	K>E		No	ClinGen ExAC TOPMed gnomAD
CA356635170 rs1372463082	38	K>N		No	ClinGen gnomAD
CA2893530 rs771976617	39	G>A		No	ClinGen ExAC gnomAD
rs1424206286 CA356635125	42	E>K		No	ClinGen TOPMed gnomAD
rs761691796 CA356635095	43	I>M		No	ClinGen ExAC gnomAD
CA356635084 rs1225289731	44	K>R		No	ClinGen TOPMed
rs774220730 CA2893504	45	V>I		No	ClinGen ExAC gnomAD
CA95724780 rs951097556	47	S>G		No	ClinGen TOPMed gnomAD
CA95724779 rs201314036	48	S>F		No	ClinGen 1000Genomes TOPMed
rs1025507219 COSM1485947 CA95724747	49	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA2893502 rs762801694	49	R>H		No	ClinGen ExAC gnomAD
CA2893503 rs762801694	49	R>L		No	ClinGen ExAC gnomAD
rs1463843267 CA356661452	52	D>N		No	ClinGen gnomAD
rs1267849876 CA356661429	54	F>V		No	ClinGen TOPMed gnomAD
rs1209600239 CA356661415	55	K>N		No	ClinGen TOPMed gnomAD
CA2893501 rs775184201	56	Q>*		No	ClinGen ExAC gnomAD
CA95724746 rs200203404	57	K>N		No	ClinGen TOPMed
rs1379947730 CA356661388	59	P>L		No	ClinGen gnomAD
rs747148742 CA2893499	59	P>S		No	ClinGen ExAC gnomAD
rs773598218 CA2893498	60	S>N		No	ClinGen ExAC gnomAD
rs748251247 CA356661380	61	K>E		No	ClinGen ExAC TOPMed gnomAD
rs748251247 CA2893496	61	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs779548462 CA2893495	61	K>R		No	ClinGen ExAC TOPMed gnomAD
rs560959580 CA2893494	64	R>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1319253803 CA356661337	66	I>M		No	ClinGen TOPMed
CA2893493 rs749643454	67	Y>C		No	ClinGen ExAC gnomAD
rs1560617691 CA356661335	67	Y>H		No	ClinGen Ensembl
CA356661328 rs1404298637	68	D>H		No	ClinGen gnomAD
rs1404298637 CA356661327	68	D>Y		No	ClinGen gnomAD
CA356661316 rs1328381611	69	S>L		No	ClinGen TOPMed
rs1483758535 CA356660635	70	D>E		No	ClinGen TOPMed
CA356660622 rs1169747277	71	S>L		No	ClinGen gnomAD
CA2893471 rs148989502	73	S>P		No	ClinGen ESP ExAC gnomAD
CA95722501 rs148989502	73	S>T		No	ClinGen ESP ExAC gnomAD
rs1560616018 CA356660583	74	E>G		No	ClinGen Ensembl
rs1265647504 CA356660555	76	T>A		No	ClinGen gnomAD
CA356660550 rs1190859841	76	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1248660560 CA356660520	78	Q>P		No	ClinGen gnomAD
rs1248660560 CA356660518	78	Q>R		No	ClinGen gnomAD
rs749719474 CA2893469	79	V>A		No	ClinGen ExAC gnomAD
TCGA novel	81	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	82	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356660445 rs1273897241	83	K>Q		No	ClinGen gnomAD
CA356660419 rs1228995587	84	K>N		No	ClinGen gnomAD
rs1403274318 CA356660408	85	P>L		No	ClinGen TOPMed gnomAD
CA356660407 rs1403274318	85	P>Q		No	ClinGen TOPMed gnomAD
rs780617627 CA2893468	85	P>S		No	ClinGen ExAC gnomAD
rs1406608268 CA356660391	86	P>L		No	ClinGen TOPMed
rs1298830396 CA356660377	87	E>G		No	ClinGen gnomAD
rs75288703 CA95722446	87	E>K		No	ClinGen Ensembl
rs374246085 CA95722418	88	K>N		No	ClinGen Ensembl
CA2893466 rs746294007	89	L>R		No	ClinGen ExAC gnomAD
rs1560615924 CA356660327	90	P>L		No	ClinGen Ensembl
rs1304573693 CA356660307	92	S>Y		No	ClinGen gnomAD
rs1464312678 CA356660291	93	S>F		No	ClinGen gnomAD
CA2893464 rs375316955	94	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2893463 rs751042466	95	P>L		No	ClinGen ExAC gnomAD
rs751042466 CA95722384	95	P>R		No	ClinGen ExAC gnomAD
rs1177398955 CA356660268	95	P>S		No	ClinGen TOPMed
rs777096916 CA2893462	97	K>E		No	ClinGen ExAC gnomAD
TCGA novel	97	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757953728 CA2893461	100	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA95722362 rs369009654	100	R>W		No	ClinGen ESP TOPMed gnomAD
CA2893460 rs752508090	101	Q>E		No	ClinGen ExAC gnomAD
COSM1581598 rs145820966 CA2893459	101	Q>R	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs143871368 CA2893457	102	D>H		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA2893458 rs143871368	102	D>N		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA95722348 rs143871368	102	D>Y		No	ClinGen 1000Genomes ESP ExAC gnomAD
TCGA novel	105	T>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1252583536 CA356660124	105	T>I		No	ClinGen gnomAD
CA2893455 rs762078054	106	Y>C		No	ClinGen ExAC gnomAD
CA2893453 rs768553238	110	T>R		No	ClinGen ExAC gnomAD
rs569007187 CA2893432	111	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA2893433 rs146652791	111	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2893431 rs777151667	116	F>L		No	ClinGen ExAC gnomAD
CA2893429 rs747412068	117	M>T		No	ClinGen ExAC gnomAD
CA2893430 rs771216082	117	M>V		No	ClinGen ExAC TOPMed gnomAD
rs372006154 CA2893427	121	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2893424 rs778438832	124	K>E		No	ClinGen ExAC gnomAD
CA2893422 rs749171683	127	E>D		No	ClinGen ExAC gnomAD
CA2893421 rs780156280	128	N>S		No	ClinGen ExAC gnomAD
rs1209981346 CA356656925	130	R>G		No	ClinGen gnomAD
CA2893420 COSM1055238 rs755963050	130	R>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA95713276 rs1028691663	131	S>A		No	ClinGen TOPMed
CA2893419 rs750301952	131	S>C		No	ClinGen ExAC gnomAD
rs764195715 CA2893418	132	T>I		No	ClinGen ExAC TOPMed gnomAD
rs895251004 CA95713254	133	N>D		No	ClinGen TOPMed
CA95713252 rs370664179	133	N>K		No	ClinGen ESP TOPMed gnomAD
rs752880075 CA2893416	135	H>R		No	ClinGen ExAC gnomAD
rs765256510 CA95713244	137	G>A		No	ClinGen ExAC TOPMed gnomAD
rs765256510 CA2893415	137	G>E		No	ClinGen ExAC TOPMed gnomAD
CA356656759 rs1324933063	141	M>V		No	ClinGen TOPMed
rs766928118 CA2893412	143	K>E		No	ClinGen ExAC TOPMed gnomAD
rs760942281 CA2893411	146	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	146	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2893409 rs771601041	148	T>S		No	ClinGen ExAC TOPMed gnomAD
rs376735975 CA95713213	152	N>S		No	ClinGen gnomAD
rs1376751995 CA356656571	153	K>R		No	ClinGen gnomAD
CA356656566 rs1437548709	154	P>A		No	ClinGen gnomAD
rs1442148992 CA356656525	155	L>F		No	ClinGen TOPMed
rs141727621 CA2893407	157	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA356656490 rs1560608231	157	P>L		No	ClinGen Ensembl
rs1205077506 CA356656486	158	I>V		No	ClinGen gnomAD
rs1275704364 CA356656422	160	L>F		No	ClinGen gnomAD
CA2893405 rs748868314	160	L>R		No	ClinGen ExAC gnomAD
CA356656395 rs1344726050	162	P>A		No	ClinGen TOPMed gnomAD
CA356656394 rs1344726050	162	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	165	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745632771 CA2893402	165	V>L		No	ClinGen ExAC gnomAD
CA2893401 rs780987463	166	L>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	166	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	168	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757029913 CA2893400	171	T>N		No	ClinGen ExAC TOPMed gnomAD
rs1330768994 CA356656140	172	G>R		No	ClinGen gnomAD
rs1405087418 CA356656099	173	S>G		No	ClinGen TOPMed
rs886459529 CA95713166	175	Q>R		No	ClinGen TOPMed
rs752894711 CA2893399	176	R>G		No	ClinGen ExAC TOPMed gnomAD
rs765456455 CA2893398 COSM3428492	176	R>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
COSM460629 CA356655978 rs1333670896	177	S>C	cervix Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1560608140 CA356655946	178	N>S		No	ClinGen Ensembl
CA356655904 rs1176744586	179	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	182	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356655804 rs1178792632	182	V>M		No	ClinGen gnomAD
CA356655752 rs1481174828	184	S>N		No	ClinGen gnomAD
CA356655766 rs1346833260	184	S>R		No	ClinGen TOPMed
TCGA novel	190	S>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779100462 CA2893381	191	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs1409483894 CA356655425	192	N>D		No	ClinGen gnomAD
rs768073660 CA95712544	196	S>P		No	ClinGen gnomAD
CA95712531 rs758568648	200	D>A		No	ClinGen Ensembl
CA356655257 rs1445540699	200	D>H		No	ClinGen TOPMed
CA356655259 rs1445540699	200	D>N		No	ClinGen TOPMed
rs753892527 CA2893379	201	E>K		No	ClinGen ExAC gnomAD
CA356655203 rs780132979	202	A>D		No	ClinGen ExAC TOPMed gnomAD
CA356655201 rs780132979	202	A>G		No	ClinGen ExAC TOPMed gnomAD
rs780132979 CA2893378	202	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2893376 COSM1055237 rs376166947	204	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs55704262 CA2893374	208	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356655089 rs1318842710	208	Q>L		No	ClinGen gnomAD
CA2893373 rs532718208	213	A>V		No	ClinGen ExAC TOPMed gnomAD
CA356654534 rs1560606199	216	E>V		No	ClinGen Ensembl
CA2893359 rs369129047	217	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA95710437 rs200429404	219	L>V		No	ClinGen Ensembl
rs1214931015 CA356654461	220	H>L		No	ClinGen TOPMed gnomAD
CA356654452 rs1214931015	220	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA2893355 rs781704210	222	D>E		No	ClinGen ExAC gnomAD
rs750536992 CA2893356	222	D>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	222	D>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750536992 CA356654411	222	D>G		No	ClinGen ExAC TOPMed gnomAD
rs757891211 CA2893354	224	E>G		No	ClinGen ExAC gnomAD
CA95710429 rs113072594	225	F>L		No	ClinGen Ensembl
TCGA novel	225	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2893351 rs758834846	228	T>I		No	ClinGen ExAC TOPMed gnomAD
rs764517878 CA2893352	228	T>S		No	ClinGen ExAC gnomAD
rs1215006062 CA356654269	229	L>S		No	ClinGen gnomAD
CA356654275 rs1171628276	229	L>V		No	ClinGen gnomAD
rs1560606115 CA356654242	230	A>V		No	ClinGen Ensembl
CA356654238 rs1430656897	231	M>V		No	ClinGen gnomAD
CA356654178 rs1423371394	233	D>E		No	ClinGen gnomAD
rs752335779 CA2893350	234	E>D		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	240	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753551050 CA2893328	241	A>V		No	ClinGen ExAC gnomAD
rs760191657 COSM1429621 CA2893327	242	R>*	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs760191657 CA2893326	242	R>G		No	ClinGen ExAC gnomAD
rs773119176 CA2893325	242	R>L		No	ClinGen ExAC TOPMed gnomAD
rs773119176 CA356653085	242	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA356653007 rs201358782	247	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2893323 rs201358782	247	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2893321 rs28903095	248	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA95709430 rs1035194287	249	E>K		No	ClinGen TOPMed
rs746033187 CA2893320	250	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1008965140 CA95709414	251	F>C		No	ClinGen Ensembl
CA356652929 rs1174790021	253	S>P		No	ClinGen TOPMed
CA356652907 rs1157194176	254	V>A		No	ClinGen gnomAD
rs778423177 CA2893316	254	V>L		No	ClinGen ExAC gnomAD
CA356652892 rs1456803206	255	Q>R		No	ClinGen gnomAD
CA2893315 rs759016023	256	A>G		No	ClinGen ExAC gnomAD
rs748525530 CA2893314	257	N>T		No	ClinGen ExAC TOPMed gnomAD
rs779098990 CA2893313	258	L>F		No	ClinGen ExAC gnomAD
CA2893312 rs755402925	259	S>C		No	ClinGen ExAC gnomAD
rs755402925 CA356652819	259	S>G		No	ClinGen ExAC gnomAD
CA356652808 rs1190866199	259	S>I		No	ClinGen TOPMed gnomAD
CA356652741 rs1182825971	262	E>D		No	ClinGen gnomAD
rs377367100 CA95709403	264	H>R		No	ClinGen Ensembl
rs1578135991 CA356652668	267	P>H		No	ClinGen Ensembl
TCGA novel	267	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2893311 rs753366121	267	P>S		No	ClinGen ExAC TOPMed gnomAD
CA95709396 rs753366121	267	P>T		No	ClinGen ExAC TOPMed gnomAD
CA2893310 rs200063891	268	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA95709394 rs147243992	268	H>Y		No	ClinGen ESP
rs756791779 CA2893286	272	T>I		No	ClinGen ExAC gnomAD
TCGA novel	274	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	274	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	275	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364986119 CA356652513	275	V>I		No	ClinGen gnomAD
rs201311873 CA95709036	277	D>H		No	ClinGen 1000Genomes
rs752583076 CA2893282	278	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2893283 rs762655321	278	E>K		No	ClinGen ExAC TOPMed gnomAD
rs149569383 CA2893281	279	R>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2893280 rs760932819	280	K>N		No	ClinGen ExAC gnomAD
rs1194812270 CA356652327	284	P>S		No	ClinGen gnomAD
TCGA novel	285	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2893279 rs572693377	286	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA95708999 rs940851959	289	K>R		No	ClinGen TOPMed
CA2893277 rs761966474	291	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1491001504 CA356652162	293	S>P		No	ClinGen gnomAD
CA2893276 rs372173606	294	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA95708991 rs533588479	296	S>P		No	ClinGen TOPMed
rs1340472680 CA356651975	301	K>R		No	ClinGen gnomAD
rs749592628 CA2893274	304	A>T		No	ClinGen ExAC gnomAD
rs1231286448 CA356651879	304	A>V		No	ClinGen gnomAD
rs1457407252 CA356651861	305	D>E		No	ClinGen TOPMed
CA95708966 rs374128143	305	D>G		No	ClinGen Ensembl
rs1210493037 CA356651765	307	I>T		No	ClinGen TOPMed
rs1470051371 CA356651709	310	V>D		No	ClinGen gnomAD
CA356651657 rs1406840014	311	S>Y		No	ClinGen gnomAD
rs1409175533 CA356651588	313	P>L		No	ClinGen TOPMed gnomAD
rs1326741422 CA356651610	313	P>S		No	ClinGen gnomAD
rs780346100 CA2893272	314	K>R		No	ClinGen ExAC gnomAD
rs34586398 CA95708958	317	S>F		No	ClinGen Ensembl
CA2893271 rs559190915	317	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA356651473 rs1431306296	318	K>E		No	ClinGen TOPMed
CA356651414 rs1197925875	320	A>P		No	ClinGen TOPMed
rs1428155697 CA356651405	320	A>V		No	ClinGen gnomAD
rs780832386 CA2893269	322	M>L		No	ClinGen ExAC gnomAD
CA2893268 rs756712820	322	M>T		No	ClinGen ExAC gnomAD
TCGA novel	323	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356651275 rs1181661083	324	R>K		No	ClinGen gnomAD
rs746600122 CA2893267	325	K>N		No	ClinGen ExAC TOPMed gnomAD
CA2893266 rs777544130	326	E>G		No	ClinGen ExAC gnomAD
TCGA novel	327	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs908017417 CA95708942	327	E>G		No	ClinGen TOPMed
rs1057394361 CA356651146	328	S>I		No	ClinGen TOPMed gnomAD
CA356651151 rs1168146563	328	S>R		No	ClinGen TOPMed
CA95708936 rs1057394361	328	S>T		No	ClinGen TOPMed gnomAD
CA95708927 rs201558285	329	S>F		No	ClinGen 1000Genomes
rs1167967876 CA356651125	329	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs752705656 CA2893264	333	I>T		No	ClinGen ExAC gnomAD
rs1294705033 CA356650814	335	P>L		No	ClinGen TOPMed
CA95708901 rs938879469	337	A>P		No	ClinGen TOPMed gnomAD
rs1441302773 CA356650744	338	S>*		No	ClinGen gnomAD
COSM187434 CA356650736 rs1441302773	338	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA95708894 rs569282965	339	K>E		No	ClinGen 1000Genomes
CA356650661 rs1336137802	340	R>K		No	ClinGen gnomAD
CA356650552 rs1578135084	343	N>Y		No	ClinGen Ensembl
rs1450181816 CA356650496	344	A>T		No	ClinGen gnomAD
CA2893262 rs137867721	346	K>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs137867721 CA2893261	346	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA95708867 rs980499125	348	K>R		No	ClinGen TOPMed
rs1341561499 CA356650246	350	E>G		No	ClinGen TOPMed
CA2893258 rs774537579	351	T>A		No	ClinGen ExAC gnomAD
RCV000912007 rs567126430 CA2893257	351	T>I		No	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1182173157 CA356650160	354	P>S		No	ClinGen gnomAD
CA2893254 rs775978452	357	T>A		No	ClinGen ExAC gnomAD
rs55734630 CA2893253	357	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs746285755 CA2893252	358	K>R		No	ClinGen ExAC TOPMed gnomAD
rs776147227 CA2893251	359	S>N		No	ClinGen ExAC TOPMed gnomAD
CA2893249 rs140509314	361	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1281185688 CA356649943	363	K>R		No	ClinGen gnomAD
rs746480822 CA2893248	365	E>K		No	ClinGen ExAC gnomAD
TCGA novel	365	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749259193 CA2893210	366	S>C		No	ClinGen ExAC gnomAD
rs749259193 CA356647919	366	S>F		No	ClinGen ExAC gnomAD
rs201630129 CA95706264	367	V>L		No	ClinGen 1000Genomes
rs1301837081 CA356647890	368	S>N		No	ClinGen TOPMed gnomAD
rs1424516993 CA356647864	369	P>L		No	ClinGen TOPMed gnomAD
CA356647873 rs1354550306	369	P>T		No	ClinGen gnomAD
CA2893209 rs779858013	372	S>F		No	ClinGen ExAC gnomAD
CA2893207 rs138918161	376	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2893206 rs374549255	376	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2893204 rs752817616	377	T>A		No	ClinGen ExAC TOPMed gnomAD
rs752817616 CA2893205	377	T>P		No	ClinGen ExAC TOPMed gnomAD
rs759294546 CA2893203	378	N>D		No	ClinGen ExAC TOPMed gnomAD
CA2893202 rs759989483	379	Y>F		No	ClinGen ExAC gnomAD
rs754336277 CA2893201	382	Y>F		No	ClinGen ExAC TOPMed gnomAD
COSM1429620 CA95706186 rs896111059	383	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA356647524 rs1035947105	388	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs760962792 CA2893199	388	R>Q		No	ClinGen ExAC gnomAD
COSM4159061 CA2893198 rs552225009	389	E>D	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	390	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200654181 CA2893197	392	K>E		No	ClinGen ESP ExAC gnomAD
CA2893196 rs761384771	394	L>P		No	ClinGen ExAC gnomAD
CA2893195 rs773949787	396	S>F		No	ClinGen ExAC gnomAD
rs768311053 CA2893194	399	I>M		No	ClinGen ExAC gnomAD
rs1003176717 CA95706150	401	K>R		No	ClinGen gnomAD
rs762425047 CA2893176	409	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2893174 rs769655528	410	L>V		No	ClinGen ExAC gnomAD
CA2893172 rs374739604	411	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2893173 rs374739604	411	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA356645990 rs1417303223	412	F>C		No	ClinGen gnomAD
rs370587908 CA2893170	416	G>D		No	ClinGen ESP ExAC
CA2893168 rs755074181	417	V>M		No	ClinGen ExAC TOPMed gnomAD
rs756529258 CA2893165	419	E>A		No	ClinGen ExAC gnomAD
TCGA novel	419	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2893164 rs201881505	421	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA2893162 COSM1163616 rs757709074	423	R>*	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1398201957 CA356645922	424	D>N		No	ClinGen TOPMed
rs1560600174 CA356645914	425	E>K		No	ClinGen Ensembl
CA356645902 rs145113928	426	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1306637456 CA356645906	426	A>T		No	ClinGen gnomAD
CA2893160 rs145113928	426	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1287485715 CA356645897	427	K>R		No	ClinGen TOPMed
CA95698891 rs1031235840	428	S>C		No	ClinGen Ensembl
rs1453577637 CA356645887	429	L>V		No	ClinGen gnomAD
rs774908169 CA2893158	432	R>C		No	ClinGen ExAC TOPMed gnomAD
rs368877527 COSM1055231 CA2893157	432	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA95698883 rs368877527	432	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs776556661 CA2893155	433	Y>H		No	ClinGen ExAC gnomAD
CA356645856 rs1441351794	434	G>R		No	ClinGen gnomAD
CA2893152 rs774551557 COSM1055230	437	V>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1412158758 CA356645828	438	T>I		No	ClinGen TOPMed
rs1461537999 CA356645821	440	N>H		No	ClinGen gnomAD
rs768802365 CA2893151	442	S>N		No	ClinGen ExAC TOPMed gnomAD
rs749546912 CA2893150	443	K>N		No	ClinGen ExAC gnomAD
rs1202897147 CA356645796	443	K>T		No	ClinGen gnomAD
rs758157010 CA95698838	446	N>K		No	ClinGen Ensembl
rs765151856 CA95698837	447	Y>C		No	ClinGen Ensembl
CA2893147 rs141418649	450	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs369740243 COSM125824 CA2893146	452	R>H	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA356645728 rs1297682689	453	D>E		No	ClinGen TOPMed
rs1314858321 CA356645729	453	D>V		No	ClinGen gnomAD
CA2893145 rs757688983	454	S>N		No	ClinGen ExAC gnomAD
rs1342525398 CA356645710	456	Q>R		No	ClinGen gnomAD
CA356645705 rs1356104867	457	S>T		No	ClinGen TOPMed
CA356645688 rs1381747027	459	S>N		No	ClinGen gnomAD
rs565756189 CA95698781	460	D>G		No	ClinGen Ensembl
rs1374223058 CA356645652	462	A>D		No	ClinGen TOPMed
rs146649219 CA2893128	463	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA356645629 rs1461222088	466	G>E		No	ClinGen gnomAD
CA2893127 rs371180655	469	I>S		No	ClinGen ESP ExAC gnomAD
TCGA novel	470	I>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2893126 rs771612144	471	D>A		No	ClinGen ExAC gnomAD
CA356645586 rs1346505319	471	D>E		No	ClinGen TOPMed
CA356645531 rs1216982136	475	L>M		No	ClinGen Ensembl
CA2893125 rs747537833	479	I>T		No	ClinGen ExAC gnomAD
CA2893123 rs758796849	480	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs367742770 CA2893124	480	R>W	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA2893121 rs778686345	482	M>L		No	ClinGen ExAC gnomAD
rs866531767 CA95697717	483	P>S		No	ClinGen Ensembl
rs541798977 CA95697712	484	G>D		No	ClinGen gnomAD
CA2893120 rs754480413	485	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1199696482 CA356645356	485	K>R		No	ClinGen TOPMed
CA2893119 rs753388385	487	S>A		No	ClinGen ExAC gnomAD
rs1578125089 CA356645256	490	E>K		No	ClinGen Ensembl
TCGA novel	491	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356645172 rs1437034275	495	T>A		No	ClinGen TOPMed gnomAD
CA2893116 rs750377380	496	E>G		No	ClinGen ExAC gnomAD
TCGA novel	498	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1447332666 CA356644528	502	K>R		No	ClinGen TOPMed
CA2893097 rs750314523	503	L>Q		No	ClinGen ExAC gnomAD
rs756968126 CA2893095	506	T>I		No	ClinGen ExAC gnomAD
rs767556822 CA2893096	506	T>S		No	ClinGen ExAC gnomAD
CA356644501 rs1212392375	507	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	508	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2893094 rs369507694	508	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs764000823 CA2893093	509	K>R		No	ClinGen ExAC gnomAD
rs1448444299 CA356644482	510	N>H		No	ClinGen TOPMed
CA2893091 rs777001359	510	N>K		No	ClinGen ExAC
rs759788745 CA2893092	510	N>S		No	ClinGen ExAC gnomAD
CA356644476 rs1183676074	511	V>I		No	ClinGen TOPMed
CA2893090 rs766510970	514	K>Q		No	ClinGen ExAC gnomAD
TCGA novel	515	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs760899943 CA2893089	516	K>R		No	ClinGen ExAC gnomAD
CA2893088 rs773588677	518	S>T		No	ClinGen ExAC gnomAD
rs748440897 CA356644409	521	K>E		No	ClinGen ExAC gnomAD
rs748440897 CA2893086	521	K>Q		No	ClinGen ExAC gnomAD
CA95695770 rs1037054416	522	K>E		No	ClinGen TOPMed gnomAD
rs774729803 CA2893085	524	S>P		No	ClinGen ExAC gnomAD
rs1420896413 CA356644367	527	K>E		No	ClinGen gnomAD
rs769012008 CA2893084	527	K>I		No	ClinGen ExAC TOPMed gnomAD
CA2893081 rs755615781	531	P>L		No	ClinGen ExAC TOPMed gnomAD
rs918114541 CA95695739	532	T>I		No	ClinGen TOPMed
CA2893080 rs745419387	534	K>E		No	ClinGen ExAC gnomAD
rs780964610 CA2893079	534	K>R		No	ClinGen ExAC
rs757166322 CA2893078	535	R>K		No	ClinGen ExAC TOPMed gnomAD
CA356644303 rs1298018014	536	D>E		No	ClinGen gnomAD
CA356644306 rs1241536139	536	D>G		No	ClinGen TOPMed gnomAD
CA356644305 rs1241536139	536	D>V		No	ClinGen TOPMed gnomAD
CA356644308 rs1474469059	536	D>Y		No	ClinGen gnomAD
TCGA novel	538	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194466482 CA356644290	538	L>W		No	ClinGen gnomAD
rs751480509 CA2893077	539	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2893076 rs371255500	539	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA95695710 rs959688159	540	K>T		No	ClinGen TOPMed
rs1229613405 CA356644264	542	I>M		No	ClinGen gnomAD
TCGA novel	543	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1206688096 CA356644251	544	K>R		No	ClinGen TOPMed
CA2893072 rs183190812	546	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773390851 CA2893071	546	T>I		No	ClinGen ExAC gnomAD
rs979799484 CA95695700	547	D>E		No	ClinGen TOPMed gnomAD
CA356644231 rs1432677571	547	D>G		No	ClinGen gnomAD
TCGA novel	547	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356644221 rs1301779593	549	F>L		No	ClinGen TOPMed gnomAD
rs1404753197 CA356644194	552	S>I		No	ClinGen gnomAD
CA2893070 rs767518528	558	Q>H		No	ClinGen ExAC gnomAD
rs774851700 CA2893068	564	S>N		No	ClinGen ExAC gnomAD
CA2893067 rs768993651	565	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs749720141 CA2893066	565	G>V		No	ClinGen ExAC gnomAD
rs1478833233 CA356644100	566	D>N		No	ClinGen gnomAD
CA95695628 rs17854711	567	S>N		No	ClinGen Ensembl
rs149897970 CA2893064	568	K>R		No	ClinGen ESP ExAC gnomAD
CA2893063 rs747426890	569	A>T		No	ClinGen ExAC
CA2893062 rs375278905	570	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1201656145 CA356644038	575	D>N		No	ClinGen gnomAD
rs1223487211 CA356644010	578	E>G		No	ClinGen gnomAD
TCGA novel	580	K>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	581	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1578122105 CA356643983	582	E>K		No	ClinGen Ensembl
rs942718865 CA95695582	584	L>F		No	ClinGen TOPMed
CA2893060 rs370147025	584	L>W		No	ClinGen ESP ExAC gnomAD
rs139096199 COSM270027 CA2893059	593	T>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs748333308 CA95695568	594	S>L		No	ClinGen gnomAD
CA356643893 rs1368902896	595	L>F		No	ClinGen gnomAD
CA356643869 rs377460974	598	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2893057 RCV000894321 VAR_014860 rs2066791	598	I>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1332240399 CA356643864	599	I>T		No	ClinGen gnomAD
rs562481131 CA95695548	599	I>V		No	ClinGen gnomAD
CA2893055 rs780401677	601	Q>R		No	ClinGen ExAC gnomAD
CA356643840 rs1427211421	603	G>R		No	ClinGen gnomAD
CA356643829 rs1432587686	604	D>E		No	ClinGen TOPMed gnomAD
CA95695532 rs989070824	604	D>N		No	ClinGen gnomAD
CA356643800 rs1394387956	608	A>G		No	ClinGen TOPMed
TCGA novel	609	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1192754517 CA356643793	609	N>T		No	ClinGen gnomAD
rs767574991 COSM3825819 CA2893052	613	R>C	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1057747 CA356643769	613	R>H		No	ClinGen TOPMed gnomAD
rs1057747 CA95695493 VAR_016986	613	R>L		No	ClinGen UniProt TOPMed dbSNP gnomAD
rs761854574 CA2893051 COSM2846610	616	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs140584118 CA356643744	617	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs140584118 CA2893050	617	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1313341834 CA356643746	617	N>Y		No	ClinGen gnomAD
CA356643729 rs1222450872	619	Q>P		No	ClinGen gnomAD
CA356643728 rs1222450872	619	Q>R		No	ClinGen gnomAD
CA2893049 rs763277787	621	S>G		No	ClinGen ExAC gnomAD
CA2893047 rs775780200	621	S>N		No	ClinGen ExAC TOPMed gnomAD
rs763277787 CA2893048	621	S>R		No	ClinGen ExAC gnomAD
rs770083988 CA2893046	622	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA356643701 rs1404170132	623	S>F		No	ClinGen gnomAD
CA2893044 rs748232846	624	E>K		No	ClinGen ExAC TOPMed gnomAD
CA95695430 rs148725208	625	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2893043 rs148725208	625	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356643680 rs1339139106	626	K>N		No	ClinGen TOPMed gnomAD
TCGA novel	627	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA356643673 rs1295438015	627	K>N		No	ClinGen TOPMed gnomAD
rs201668482	628	H>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA2893042 rs746587538	628	H>R		No	ClinGen ExAC gnomAD
rs760243930 CA2893020	630	A>G		No	ClinGen ExAC TOPMed gnomAD
rs748034378 CA2893017	631	K>R		No	ClinGen ExAC gnomAD
CA2893015 rs768491668	633	G>D		No	ClinGen ExAC gnomAD
rs778771799 CA2893016	633	G>R		No	ClinGen ExAC gnomAD
CA2893014 COSM420593 rs55727832	636	S>F	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2893011 rs147227437	637	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1298681724 CA356642862	637	G>V		No	ClinGen gnomAD
CA2893009 rs61748745	640	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA356642806 rs61748745	640	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs374867437 CA356642789	641	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA95694246 rs1135544	641	G>S		No	ClinGen TOPMed gnomAD
COSM481246 rs374867437 CA2893008	641	G>V	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs755342067 CA2893006	642	S>F		No	ClinGen ExAC gnomAD
rs754209348 CA2893005	646	A>G		No	ClinGen ExAC gnomAD
rs1205041770 CA356642705	647	A>T		No	ClinGen gnomAD
rs766790092 CA2893004	647	A>V	Variant assessed as Somatic; 4.622e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1210803086 CA356642623	652	P>L		No	ClinGen gnomAD
CA2893001 rs767080058	652	P>S		No	ClinGen ExAC gnomAD
CA2892999 rs774313023	653	P>L		No	ClinGen ExAC gnomAD
rs761473475 CA2893000	653	P>T		No	ClinGen ExAC TOPMed gnomAD
rs768524441 CA2892998	655	V>I		No	ClinGen ExAC gnomAD
CA356642573 rs1318653305	656	G>D		No	ClinGen gnomAD
CA356642563 rs1418708823	657	K>T		No	ClinGen TOPMed
rs749270095 CA2892997	658	T>N		No	ClinGen ExAC gnomAD
rs775104115 CA356642500	662	S>P		No	ClinGen ExAC gnomAD
rs775104115 CA2892996	662	S>T		No	ClinGen ExAC gnomAD
rs1322730316 CA356642475	664	V>M		No	ClinGen gnomAD
CA2892994 rs747174315	665	C>F		No	ClinGen ExAC TOPMed gnomAD
CA2892995 rs368938991	665	C>R		No	ClinGen ESP ExAC gnomAD
rs747174315 CA356642458	665	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA2892968 rs756514185	667	E>K		No	ClinGen ExAC gnomAD
CA356641630 rs1258552616	670	Y>H		No	ClinGen TOPMed
rs28903096 CA356641584 CA2892966	673	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs28903096 CA2892965	673	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145107601 CA95692937	674	E>A		No	ClinGen ESP TOPMed
rs941829262 CA95692935	676	N>S		No	ClinGen TOPMed gnomAD
CA2892962 rs762579159	681	R>Q		No	ClinGen ExAC gnomAD
rs776364634 CA2892958	682	S>R		No	ClinGen ExAC gnomAD
rs759308496 CA2892959	682	S>T		No	ClinGen ExAC gnomAD
CA2892957 rs138470471	683	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1578116522 CA356641454	684	S>I		No	ClinGen Ensembl
rs761874961 CA2892956	685	S>G		No	ClinGen ExAC gnomAD
COSM1055224 rs370446342 CA2892955	688	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA356641396 rs1472514752	689	I>F		No	ClinGen TOPMed gnomAD
rs368198058 CA2892952	691	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2892950 VAR_020657 rs11932767 RCV000966907	692	E>D		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	692	E>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1215653913 CA356641344 COSM3696643	693	S>L	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA356641296 rs1560594682	698	S>N		No	ClinGen Ensembl
rs1239961331 CA356641285	699	I>F		No	ClinGen TOPMed
TCGA novel	699	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781015457 CA95692886	701	G>D		No	ClinGen Ensembl
CA2892948 rs757653219	704	S>A		No	ClinGen ExAC gnomAD
rs777334711 CA2892929	705	N>K		No	ClinGen ExAC gnomAD
CA2892927 rs376187267	707	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs747438761 CA2892926	711	V>L		No	ClinGen ExAC TOPMed gnomAD
rs564171683 CA2892925	713	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2892924 rs142517282	713	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2892923 rs142517282	713	T>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1292187854 CA356641036	714	K>R		No	ClinGen gnomAD
CA356641019 rs1350708315	716	A>V		No	ClinGen gnomAD
CA356641017 rs2306598	717	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2892922 rs2306598	717	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA95691758 rs930143957	719	M>V		No	ClinGen Ensembl
rs1560593573 CA356640973	723	D>G		No	ClinGen Ensembl
TCGA novel	723	D>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766409944 CA2892918	728	N>I		No	ClinGen ExAC TOPMed gnomAD
rs750181204 CA2892916	732	G>R		No	ClinGen ExAC gnomAD
CA356640895 rs1246960748	734	I>T		No	ClinGen TOPMed gnomAD
rs773587132 CA2892905	738	I>F		No	ClinGen ExAC gnomAD
CA356640850 rs1380486322	739	G>S		No	ClinGen TOPMed
rs1294463605 CA356640842	740	L>R		No	ClinGen TOPMed gnomAD
CA356640828 rs1578114006	742	K>N		No	ClinGen Ensembl
CA2892904 rs577715030	743	H>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1425676226 CA356640824	743	H>Y		No	ClinGen gnomAD
CA356640818 rs1437474171	744	T>A		No	ClinGen gnomAD
CA356640810 rs1280310569	745	K>R		No	ClinGen gnomAD
CA95691507 rs12502450	748	I>N		No	ClinGen Ensembl
rs1237165224 CA356640785	749	I>V		No	ClinGen gnomAD
CA356640776 rs1178739379	750	C>Y		No	ClinGen gnomAD
CA2892903 rs558110225	751	M>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1359115561 CA356640754	753	N>D		No	ClinGen TOPMed
CA2892902 rs778599319	753	N>S		No	ClinGen ExAC gnomAD
rs1282996098 CA356640675	758	P>L		No	ClinGen gnomAD
rs748839045 CA2892900	760	I>F		No	ClinGen ExAC
rs1241292836 CA356640639	761	R>C		No	ClinGen TOPMed gnomAD
COSM1055223 rs774151006 CA2892899	761	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA2892898 rs774151006	761	R>L		No	ClinGen ExAC gnomAD
CA2892897 rs750328833	762	S>F		No	ClinGen ExAC TOPMed gnomAD
CA356640612 rs1215156008	764	V>I		No	ClinGen TOPMed
CA2892896 rs767280898	765	H>R		No	ClinGen ExAC gnomAD
rs1282724899 CA356640580	766	Y>C		No	ClinGen gnomAD
CA2892895 rs757175937	766	Y>H		No	ClinGen ExAC gnomAD
CA2892894 rs752963051	767	C>S		No	ClinGen ExAC gnomAD
CA356640525 rs1560593222	770	L>V		No	ClinGen Ensembl
rs765595532 CA2892893	771	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2892892 rs147804632	771	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2892890 rs201195147	773	Q>P		No	ClinGen 1000Genomes ExAC gnomAD
rs940269437 CA95691421	775	P>L		No	ClinGen TOPMed gnomAD
rs199688793 CA356640449	776	R>L		No	ClinGen ExAC TOPMed gnomAD
rs199688793 CA2892887	776	R>Q	Variant assessed as Somatic; 4.754e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA2892888 rs773606833	776	R>W		No	ClinGen ExAC gnomAD
COSM177763 rs1304775320 CA356640401	779	Q>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs768055158 CA2892868	784	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2892867 rs369274424	785	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	786	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1275594880 CA356640259	787	I>T		No	ClinGen TOPMed
rs774655717 CA2892866	787	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs769010068 CA2892865	788	A>E		No	ClinGen ExAC TOPMed gnomAD
rs1221752406 CA356640231	789	F>Y		No	ClinGen TOPMed
CA356640215 rs1245651984	790	K>I		No	ClinGen gnomAD
rs762605626 CA2892864	795	I>F		No	ClinGen ExAC TOPMed gnomAD
CA95691227 rs144320551	796	P>H		No	ClinGen TOPMed gnomAD
COSM110047 CA95691219 rs144320551	796	P>L	skin [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs775059245 CA2892863	796	P>S		No	ClinGen ExAC gnomAD
TCGA novel	797	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769341933 CA2892862	799	A>T		No	ClinGen ExAC gnomAD
CA356640013 rs1383685207	805	L>F		No	ClinGen gnomAD
rs1197434795 CA356639995	807	A>T		No	ClinGen TOPMed
CA2892860 rs144389543	809	Q>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2892861 rs144389543	809	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1461514755 CA356639934	811	I>V		No	ClinGen gnomAD
rs866576240 CA95691202	812	R>K		No	ClinGen Ensembl
rs370085283 CA2892838	814	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs541683474 CA2892837 COSM1581597	816	H>Q	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs140467780 CA2892836	817	N>S		No	ClinGen ESP ExAC TOPMed
CA95691007 rs779768249	819	S>N		No	ClinGen Ensembl
rs1229526080 CA356639789	821	W>S		No	ClinGen TOPMed
rs201073589 CA95690987	822	C>Y		No	ClinGen 1000Genomes TOPMed
CA356639757 rs1178128210	824	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA356639722 rs1273637156	827	A>V		No	ClinGen gnomAD
rs781188723 CA2892834	829	T>A		No	ClinGen ExAC gnomAD
CA2892833 rs535971979 COSM1670947	830	Y>C	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA356639665 rs1234716742	831	D>G		No	ClinGen gnomAD
rs1372749611 CA356639650	832	Q>L		No	ClinGen gnomAD
rs946365296 CA95690966	833	A>S		No	ClinGen TOPMed gnomAD
rs946365296 CA356639644	833	A>T		No	ClinGen TOPMed gnomAD
rs752053155 CA2892832	834	K>R		No	ClinGen ExAC TOPMed gnomAD
rs764625447 CA2892831	835	A>G		No	ClinGen ExAC TOPMed gnomAD
rs914951575 CA95690947	837	S>C		No	ClinGen gnomAD
rs1436920232 CA356639603	838	H>R		No	ClinGen gnomAD
CA2892829 rs752953383	838	H>Y		No	ClinGen ExAC gnomAD
CA2892827 rs759045902	839	R>I		No	ClinGen ExAC TOPMed gnomAD
rs1470562542 CA356639586	840	A>T		No	ClinGen gnomAD
rs1234737188 CA356639573	841	K>E		No	ClinGen gnomAD
rs914428458 CA95690903	841	K>R		No	ClinGen TOPMed gnomAD
rs765974271 CA2892825	843	D>G		No	ClinGen ExAC gnomAD
CA95690876 rs760329608	844	I>F		No	ClinGen ExAC TOPMed gnomAD
rs760329608 CA2892824	844	I>V		No	ClinGen ExAC TOPMed gnomAD
CA356639495 rs1367790921	846	M>T		No	ClinGen TOPMed
CA2892822 rs771956490	846	M>V		No	ClinGen ExAC gnomAD
rs199897885 CA2892801	848	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	848	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2892799 rs774401356	852	A>S		No	ClinGen ExAC gnomAD
rs377090257 CA95689200	852	A>V		No	ClinGen ESP TOPMed gnomAD
rs768328174 CA95689195	853	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1567343 rs762772857 CA2892797	853	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs768328174 CA2892798	853	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1438073765 CA356638788	854	K>E		No	ClinGen TOPMed
CA2892795 rs771093293	857	A>T		No	ClinGen ExAC gnomAD
CA356638714 rs1475596448	858	A>S		No	ClinGen gnomAD
rs1218853685 CA356638621	864	H>Y		No	ClinGen gnomAD
CA2892793 rs374383197	865	M>V		No	ClinGen ESP ExAC gnomAD
CA95689146 rs1017070617	866	S>P		No	ClinGen TOPMed gnomAD
CA356638537 rs1214987412	867	L>P		No	ClinGen gnomAD
CA356638517 rs1272868342	868	V>G		No	ClinGen gnomAD
CA95689139 CA2892792 rs150822138	868	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2892789 rs755363991	872	D>H		No	ClinGen ExAC gnomAD
rs754307909 CA2892788	874	F>L		No	ClinGen ExAC
CA95689095 rs886966688	875	F>L		No	ClinGen TOPMed gnomAD
CA2892787 rs780591988	876	H>R		No	ClinGen ExAC gnomAD
TCGA novel	879	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1464085133 CA356638297	880	I>V		No	ClinGen TOPMed gnomAD
rs755790926 CA2892786	881	A>V		No	ClinGen ExAC gnomAD
CA356638263 rs1368858733	882	P>S		No	ClinGen TOPMed
rs750107361 CA2892785	883	L>V		No	ClinGen ExAC
rs140065280 CA2892782 COSM481245	885	V>I	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1256226898 CA356638130	888	N>D		No	ClinGen TOPMed gnomAD
CA356638102 rs1253219295	890	I>V		No	ClinGen gnomAD
CA2892780 rs762899997	891	H>L		No	ClinGen ExAC TOPMed gnomAD
CA95689027 rs142870671	891	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs890880662 CA95688995	892	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	896	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1482464262 CA356638016	897	A>S		No	ClinGen TOPMed
CA2892776 rs773542334	898	G>E		No	ClinGen ExAC gnomAD
CA2892762 rs765004911	899	G>D		No	ClinGen ExAC gnomAD
rs765004911 CA2892761	899	G>V		No	ClinGen ExAC gnomAD
rs759394739 CA2892760	901	M>I		No	ClinGen ExAC TOPMed gnomAD
rs1307850428 CA356637934	901	M>L		No	ClinGen gnomAD
CA95688783 rs903227099	901	M>T		No	ClinGen Ensembl
CA356637932 rs1307850428	901	M>V		No	ClinGen gnomAD
rs78870520 CA2892759	902	K>*		No	ClinGen ExAC TOPMed gnomAD
rs78870520 CA95688773	902	K>E		No	ClinGen ExAC TOPMed gnomAD
rs767829817 CA2892758	903	K>E		No	ClinGen ExAC gnomAD
rs774454174 CA2892756	906	M>I		No	ClinGen ExAC gnomAD
rs768864359 CA2892755	907	L>I		No	ClinGen ExAC TOPMed gnomAD
rs768864359 CA356637851	907	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1362838626 CA356637755	913	D>E		No	ClinGen gnomAD
CA95688714 rs975067705	915	I>L		No	ClinGen TOPMed gnomAD
rs975067705 CA356637737	915	I>V		No	ClinGen TOPMed gnomAD
CA2892751 rs746289718	917	D>A		No	ClinGen ExAC gnomAD
CA356637709 rs1187786692	917	D>Y		No	ClinGen gnomAD
CA356637677 rs1170040935	919	D>E		No	ClinGen gnomAD
CA356637655 rs1345366198	923	S>G		No	ClinGen TOPMed
rs746646125 CA2892748	924	Q>R		No	ClinGen ExAC gnomAD
CA2892746 rs757962310	925	I>M		No	ClinGen ExAC gnomAD
rs777206921 CA2892747	925	I>V		No	ClinGen ExAC gnomAD
CA2892744 rs765201139	926	R>Q		No	ClinGen ExAC gnomAD
COSM3783802 rs752627380 CA2892745	926	R>W	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs754708326 CA2892743	927	S>N		No	ClinGen ExAC gnomAD
rs375229636 CA2892742	932	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1452932688 CA356637584 COSM1581596	933	L>F	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed
rs1025907552 CA95688637	936	A>P		No	ClinGen TOPMed
rs372275301 CA2892741	936	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	938	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2892720 rs56273953	939	I>V		No	ClinGen ExAC TOPMed gnomAD
rs764456357 CA2892719	941	A>G		No	ClinGen ExAC gnomAD
CA356637183 rs1578103629	944	L>F		No	ClinGen Ensembl
TCGA novel	944	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1461904070 CA356637168	946	G>A		No	ClinGen gnomAD
rs752781267 CA2892717	947	E>G		No	ClinGen ExAC gnomAD
rs535419863 CA2892716	949	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777062272 CA2892714	952	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs777062272 CA356637127	952	Y>F		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	953	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1469849381 CA356637122	953	M>L		No	ClinGen TOPMed gnomAD
CA356637124 rs1469849381 COSM3381016	953	M>V	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
RCV000910098 rs17335452 CA2892713 VAR_020658	955	Q>K		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1458398102 CA356637097	956	F>L		No	ClinGen TOPMed
CA95686211 rs915040518	957	P>L		No	ClinGen Ensembl
rs371369749 CA2892712	958	T>I		No	ClinGen ESP ExAC gnomAD
CA2892711 rs772831646	959	F>Y		No	ClinGen ExAC gnomAD
TCGA novel	966	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA2892710 rs771665656	966	H>Y		No	ClinGen ExAC gnomAD
rs1229318967 CA356636970	967	S>*		No	ClinGen gnomAD
CA356636971 rs1229318967	967	S>L		No	ClinGen gnomAD
rs1404139713 CA356636956	969	T>I		No	ClinGen TOPMed
CA356636943 rs1342045831	971	K>R		No	ClinGen TOPMed
CA356636937 rs1372607221	972	H>Y		No	ClinGen gnomAD
rs768068878 CA2892707	973	D>H		No	ClinGen ExAC gnomAD
rs867900340 CA95686181	974	R>C		No	ClinGen Ensembl
CA2892706 rs749239449	974	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779893192 CA2892705	977	Q>R		No	ClinGen ExAC gnomAD
CA2892704 rs755911170	980	A>G		No	ClinGen ExAC gnomAD
CA95686168 rs755911170	980	A>V		No	ClinGen ExAC gnomAD
rs1331380914 CA356636873	982	H>P		No	ClinGen gnomAD
rs988390344 CA95686142	983	M>I		No	ClinGen Ensembl
CA2892700 rs752979455	983	M>T		No	ClinGen ExAC gnomAD
CA2892701 rs758624735	983	M>V		No	ClinGen ExAC gnomAD
rs1181166261 CA356636859	984	S>N		No	ClinGen gnomAD
rs748376062 CA2892680	987	T>S		No	ClinGen ExAC gnomAD
rs973935017 CA95683842	990	S>G		No	ClinGen Ensembl
CA2892678 rs755063786	992	R>T		No	ClinGen ExAC gnomAD
CA95683825 rs963487293	994	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA2892676 rs766512359	996	M>V		No	ClinGen ExAC gnomAD
CA356636678 rs1470519769	997	D>N		No	ClinGen TOPMed gnomAD
rs1578098579 CA356636649	1001	L>F		No	ClinGen Ensembl
rs762236070 CA2892672	1003	R>K		No	ClinGen ExAC gnomAD
CA356636629 rs774029496	1004	D>E		No	ClinGen ExAC TOPMed gnomAD
CA95683790 rs983618925	1004	D>H		No	ClinGen TOPMed gnomAD
rs763600225 CA2892670	1006	L>F		No	ClinGen ExAC gnomAD
CA2892668 rs774793398	1007	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2892669 rs774793398	1007	V>L		No	ClinGen ExAC TOPMed gnomAD
rs770817146 CA2892664	1017	G>R		No	ClinGen ExAC gnomAD
rs1430019393 CA356636539	1019	Q>E		No	ClinGen TOPMed
rs147775081 CA2892663	1019	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA356636508 rs1560585707	1023	A>V		No	ClinGen Ensembl
rs903676685 CA95683737	1024	L>R		No	ClinGen TOPMed
rs1334781039 CA356636497	1025	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs777646834 CA2892662	1025	M>T		No	ClinGen ExAC TOPMed gnomAD
rs755117925 CA2892661	1026	D>G		No	ClinGen ExAC gnomAD
CA356636485 rs1230415909	1027	T>A		No	ClinGen gnomAD
CA356636465 rs1431841392	1030	L>M		No	ClinGen gnomAD
rs1328417067 CA356636434	1033	E>D		No	ClinGen TOPMed gnomAD
rs779942577 CA2892659	1034	D>H		No	ClinGen ExAC gnomAD
TCGA novel	1036	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756247646 CA2892658	1038	I>V		No	ClinGen ExAC gnomAD
CA2892657 rs750929464	1039	M>V		No	ClinGen ExAC gnomAD
rs1304356415 CA356636374	1041	I>S		No	ClinGen gnomAD
CA2892656 rs768056946	1043	S>N		No	ClinGen ExAC TOPMed gnomAD
rs757780127 CA2892655	1043	S>R		No	ClinGen ExAC TOPMed gnomAD
CA356636346 rs1030509258	1045	G>D		No	ClinGen gnomAD
CA95683717 rs1030509258	1045	G>V		No	ClinGen gnomAD
rs997813421 CA95683716	1049	S>T		No	ClinGen TOPMed gnomAD
rs764520516 CA2892653	1051	F>V		No	ClinGen ExAC gnomAD
rs1326050338 CA356636299	1052	S>L		No	ClinGen TOPMed
CA2892651 rs775269581	1053	K>E		No	ClinGen ExAC TOPMed
rs1224488198 CA356636255	1056	P>S		No	ClinGen gnomAD
CA356636248 rs1306234277	1057	K>Q		No	ClinGen gnomAD
rs1321450394 CA356636093	1061	A>T		No	ClinGen TOPMed
CA356636065 rs1258732166	1062	F>L		No	ClinGen gnomAD
CA2892634 rs752260406	1063	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1233896388 CA356636014	1066	Y>*		No	ClinGen TOPMed gnomAD
CA95682856 rs946285194	1067	N>S		No	ClinGen TOPMed gnomAD
CA2892633 rs765030999	1067	N>Y		No	ClinGen ExAC TOPMed gnomAD
rs1303571019 CA356635993	1068	K>E		No	ClinGen gnomAD
CA356635976 rs1222086660	1069	E>K		No	ClinGen gnomAD
CA2892632 rs759284813	1071	H>R		No	ClinGen ExAC TOPMed gnomAD
CA2892631 rs753359174	1072	L>V		No	ClinGen ExAC TOPMed gnomAD
rs765992803 CA2892630 COSM254918	1074	P>A	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA95682818 rs1007672189	1074	P>L		No	ClinGen gnomAD
rs142067677 CA2892627	1075	Y>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1057751 CA95682804	1076	S>A		No	ClinGen Ensembl
rs775671826 CA2892625	1079	A>D		No	ClinGen ExAC TOPMed gnomAD
CA95682788 rs903917735	1081	K>E		No	ClinGen TOPMed gnomAD
CA95682794 rs903917735	1081	K>Q		No	ClinGen TOPMed gnomAD
rs368875528 CA2892624	1082	A>S		No	ClinGen ESP ExAC TOPMed
rs746091232 CA2892623	1085	H>Y		No	ClinGen ExAC gnomAD
rs538858430 CA2892622	1087	T>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA356635774 rs538858430	1087	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs771098449 CA2892621	1088	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs747464005 CA2892620	1090	S>F		No	ClinGen ExAC gnomAD
CA356635727 rs1486129072	1090	S>P		No	ClinGen gnomAD
rs1486129072 CA356635730	1090	S>T		No	ClinGen gnomAD
TCGA novel	1091	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM175341 CA2892618 rs758666616	1093	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1285016083 CA356635613	1096	N>S		No	ClinGen gnomAD
rs1291228921 CA356635544	1100	N>H		No	ClinGen TOPMed gnomAD
rs1230456191 CA356635517	1101	E>G		No	ClinGen Ensembl
rs1450848204 CA356635496	1102	D>G		No	ClinGen TOPMed
rs377688011 COSM1539973 CA2892614	1105	Q>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs549951885 CA2892612	1106	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA356635408 rs1360400460	1107	D>E		No	ClinGen gnomAD
CA95682668 rs892729415	1107	D>V		No	ClinGen Ensembl
CA356635311 rs1351774094	1113	A>D		No	ClinGen TOPMed
rs1288643281 CA356635316	1113	A>P		No	ClinGen gnomAD
rs1451149913 CA356635271	1115	E>D		No	ClinGen TOPMed gnomAD
CA356635217 rs1431812840	1119	M>K		No	ClinGen gnomAD
rs1347153662 CA356635199	1120	I>F		No	ClinGen gnomAD
CA356634780 rs1164773602	1123	K>N		No	ClinGen TOPMed gnomAD
CA95682173 rs1004627601	1124	T>K		No	ClinGen TOPMed gnomAD
CA356634776 rs1004627601	1124	T>R		No	ClinGen TOPMed gnomAD
CA2892594 rs748946392	1125	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1434820858 CA356634754	1128	K>E		No	ClinGen TOPMed gnomAD
rs1434820858 CA356634755	1128	K>Q		No	ClinGen TOPMed gnomAD
rs755561864 CA2892592	1129	P>S		No	ClinGen ExAC TOPMed gnomAD
rs749903526 CA356634727	1132	P>S		No	ClinGen ExAC gnomAD
rs749903526 CA2892591	1132	P>T		No	ClinGen ExAC gnomAD
CA356634703 rs1190631383	1135	D>G		No	ClinGen gnomAD
CA356634691 rs1560583763	1137	E>K		No	ClinGen Ensembl
rs1259455289 CA356634680	1138	P>L		No	ClinGen gnomAD
CA95682144 rs1023797166	1144	K>R		No	ClinGen Ensembl
CA356634631 rs1252432568	1145	S>T		No	ClinGen gnomAD
rs766937786 CA2892589	1146	S>A		No	ClinGen ExAC gnomAD
rs17288828 VAR_020659 CA2892588	1146	S>L		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA2892586 rs369353126	1147	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs149767968 CA2892585	1149	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD

1 associated diseases with P35251

[MIM: 614575]: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS)

An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length-dependent sensory deficit. {ECO:0000269|PubMed:30926972, ECO:0000269|PubMed:31230722}. Note=The disease is caused by variants affecting the gene represented in this entry. The disease is caused by intronic AAGGG repeat expansions in intron 2. {ECO:0000269|PubMed:30926972, ECO:0000269|PubMed:31230722}.

Without disease ID

An autosomal recessive neurologic disease characterized by imbalance, cerebellar ataxia, impaired vestibular function, and non-length-dependent sensory deficit. {ECO:0000269|PubMed:30926972, ECO:0000269|PubMed:31230722}. Note=The disease is caused by variants affecting the gene represented in this entry. The disease is caused by intronic AAGGG repeat expansions in intron 2. {ECO:0000269|PubMed:30926972, ECO:0000269|PubMed:31230722}.

4 regional properties for P35251

Type	Name	Position	InterPro Accession
domain	BRCT domain	402 - 482	IPR001357
domain	AAA+ ATPase domain	643 - 778	IPR003593
domain	ATPase, AAA-type, core	648 - 775	IPR003959
domain	DNA replication factor RFC1, C-terminal	915 - 1068	IPR013725

Functions

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

7 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
DNA replication factor C complex	A complex that loads the DNA polymerase processivity factor proliferating cell nuclear antigen (PCNA) onto DNA, thereby permitting processive DNA synthesis catalyzed by DNA polymerase. In eukaryotes the complex consists of five polypeptides.
Elg1 RFC-like complex	A pentameric replication factor C (RLC) complex, which unloads the DNA polymerase processivity factor proliferating cell nuclear antigen (PCNA) from chromatin and has roles in telomere length regulation and other aspects of genome stability. In Saccharomyces the subunits are known as Elg1p, Rfc2p, Rfc3p, Rfc4p, and Rfc5p.
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.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.

9 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity	Catalysis of the reaction: ATP + H2O = ADP + H+ phosphate. ATP hydrolysis is used in some reactions as an energy source, for example to catalyze a reaction or drive transport against a concentration gradient.
DNA binding	Any molecular function by which a gene product interacts selectively and non-covalently with DNA (deoxyribonucleic acid).
DNA clamp loader activity	Facilitating the opening of the ring structure of the PCNA complex, or any of the related sliding clamp complexes, and their closing around the DNA duplex, driven by ATP hydrolysis.
DNA clamp unloader activity	Facilitating the opening of the ring structure of the PCNA complex, or any of the related sliding clamp complexes, and their removal from the DNA duplex, driven by ATP hydrolysis.
double-stranded DNA binding	Binding to double-stranded DNA.
enzyme activator activity	Binds to and increases the activity of an enzyme.
protein domain specific binding	Binding to a specific domain of a protein.
sequence-specific DNA binding	Binding to DNA of a specific nucleotide composition, e.g. GC-rich DNA binding, or with a specific sequence motif or type of DNA e.g. promotor binding or rDNA binding.

5 GO annotations of biological process

Name	Definition
DNA repair	The process of restoring DNA after damage. Genomes are subject to damage by chemical and physical agents in the environment (e.g. UV and ionizing radiations, chemical mutagens, fungal and bacterial toxins, etc.) and by free radicals or alkylating agents endogenously generated in metabolism. DNA is also damaged because of errors during its replication. A variety of different DNA repair pathways have been reported that include direct reversal, base excision repair, nucleotide excision repair, photoreactivation, bypass, double-strand break repair pathway, and mismatch repair pathway.
DNA-templated DNA replication	A DNA replication process that uses parental DNA as a template for the DNA-dependent DNA polymerases that synthesize the new strands.
negative regulation of transcription by RNA polymerase II	Any process that stops, prevents, or reduces the frequency, rate or extent of transcription mediated by RNA polymerase II.
positive regulation of DNA-templated transcription	Any process that activates or increases the frequency, rate or extent of cellular DNA-templated transcription.
telomere maintenance via telomerase	The maintenance of proper telomeric length by the addition of telomeric repeats by telomerase.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P38630	RFC1	Replication factor C subunit 1	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8WVB6	CHTF18	Chromosome transmission fidelity protein 18 homolog	Homo sapiens (Human)	PR
P35601	Rfc1	Replication factor C subunit 1	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDIRKFFGVI	PSGKKLVSET	VKKNEKTKSD	EETLKAKKGI	KEIKVNSSRK	EDDFKQKQPS
70	80	90	100	110	120
KKKRIIYDSD	SESEETLQVK	NAKKPPEKLP	VSSKPGKISR	QDPVTYISET	DEEDDFMCKK
130	140	150	160	170	180
AASKSKENGR	STNSHLGTSN	MKKNEENTKT	KNKPLSPIKL	TPTSVLDYFG	TGSVQRSNKK
190	200	210	220	230	240
MVASKRKELS	QNTDESGLND	EAIAKQLQLD	EDAELERQLH	EDEEFARTLA	MLDEEPKTKK
250	260	270	280	290	300
ARKDTEAGET	FSSVQANLSK	AEKHKYPHKV	KTAQVSDERK	SYSPRKQSKY	ESSKESQQHS
310	320	330	340	350	360
KSSADKIGEV	SSPKASSKLA	IMKRKEESSY	KEIEPVASKR	KENAIKLKGE	TKTPKKTKSS
370	380	390	400	410	420
PAKKESVSPE	DSEKKRTNYQ	AYRSYLNREG	PKALGSKEIP	KGAENCLEGL	IFVITGVLES
430	440	450	460	470	480
IERDEAKSLI	ERYGGKVTGN	VSKKTNYLVM	GRDSGQSKSD	KAAALGTKII	DEDGLLNLIR
490	500	510	520	530	540
TMPGKKSKYE	IAVETEMKKE	SKLERTPQKN	VQGKRKISPS	KKESESKKSR	PTSKRDSLAK
550	560	570	580	590	600
TIKKETDVFW	KSLDFKEQVA	EETSGDSKAR	NLADDSSENK	VENLLWVDKY	KPTSLKTIIG
610	620	630	640	650	660
QQGDQSCANK	LLRWLRNWQK	SSSEDKKHAA	KFGKFSGKDD	GSSFKAALLS	GPPGVGKTTT
670	680	690	700	710	720
ASLVCQELGY	SYVELNASDT	RSKSSLKAIV	AESLNNTSIK	GFYSNGAASS	VSTKHALIMD
730	740	750	760	770	780
EVDGMAGNED	RGGIQELIGL	IKHTKIPIIC	MCNDRNHPKI	RSLVHYCFDL	RFQRPRVEQI
790	800	810	820	830	840
KGAMMSIAFK	EGLKIPPPAM	NEIILGANQD	IRQVLHNLSM	WCARSKALTY	DQAKADSHRA
850	860	870	880	890	900
KKDIKMGPFD	VARKVFAAGE	ETAHMSLVDK	SDLFFHDYSI	APLFVQENYI	HVKPVAAGGD
910	920	930	940	950	960
MKKHLMLLSR	AADSICDGDL	VDSQIRSKQN	WSLLPAQAIY	ASVLPGELMR	GYMTQFPTFP
970	980	990	1000	1010	1020
SWLGKHSSTG	KHDRIVQDLA	LHMSLRTYSS	KRTVNMDYLS	LLRDALVQPL	TSQGVDGVQD
1030	1040	1050	1060	1070	1080
VVALMDTYYL	MKEDFENIME	ISSWGGKPSP	FSKLDPKVKA	AFTRAYNKEA	HLTPYSLQAI
1090	1100	1110	1120	1130	1140
KASRHSTSPS	LDSEYNEELN	EDDSQSDEKD	QDAIETDAMI	KKKTKSSKPS	KPEKDKEPRK

GKGKSSKK