AiPD: Autoinhibited Protein Database

Q15477

Gene name	SKIV2L (DDX13, SKI2W, SKIV2, W)
Protein name	Helicase SKI2W
Names	Ski2, Helicase-like protein, HLP
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6499
EC number	3.6.4.13: Acting on ATP; involved in cellular and subcellular movement
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

202-300 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

202-300 (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

6 structures for Q15477

Entry ID	Method	Resolution	Chain	Position	Source
7QDR	EM	370 A	A	1-1246	PDB
7QDS	EM	380 A	A	1-1246	PDB
7QDY	EM	310 A	A	1-1246	PDB
7QDZ	EM	360 A	A	1-1246	PDB
7QE0	EM	650 A	A	1-1246	PDB
AF-Q15477-F1	Predicted				AlphaFoldDB

982 variants for Q15477

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001543362 RCV001569762 CA3729083 rs759511516 RCV003155397	79	R>*	Trichohepatoenteric syndrome Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs146717555 RCV001850891 RCV000380945 CA3729097 COSM483885	85	T>M	kidney Trichohepatoenteric syndrome 2 [Cosmic, ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP
CA3729135 COSM1077748 COSM1077747 RCV002032451 RCV001157013 rs140350010	127	S>L	Trichohepatoenteric syndrome 2 Variant assessed as Somatic; 0.0 impact. endometrium [ClinVar, NCI-TCGA, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1338384643 CA363437633 RCV001151598	128	A>T	Trichohepatoenteric syndrome 2 Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	TOPMed ClinGen ClinVar NCI-TCGA dbSNP
rs146543642 RCV000384473 CA3729144	141	A>V	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000455517 RCV001518264 CA3729147 VAR_060379 RCV000283496 rs438999	151	Q>R	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
CA3729231 RCV001518265 rs437179 VAR_060380 RCV000405640 RCV000454405	214	M>L	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001151599 rs149410050 CA3729242 RCV000949294	247	C>W	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA3729244 RCV000778787 rs768503878 RCV002535640	253	R>*	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs200318261 RCV001850892 CA3729260 RCV000334891	264	E>V	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000022972 rs751026211 CA3729267	283	W>*	Trichohepatoenteric syndrome 2 Trichohepatoenteric syndrome 2 (thes2) [ClinVar, Ensembl]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs565958554 CA3729281 RCV000404797	301	P>S	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs751074844 CA3729284 RCV001089505	302	Q>*	Trichohepatoenteric syndrome 2 Trichohepatoenteric syndrome 2 (thes2) [ClinVar, Ensembl]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
VAR_055888 RCV001154610 RCV000438740 CA3729309 rs36038685 RCV001805038	324	R>W	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
rs281875237 CA128908 VAR_067721	341	V>G	THES2; abolished ATPase activity [UniProt]	Yes	Ensembl ClinGen UniProt dbSNP
RCV000059689 RCV000022973 rs1582171003	341	V>G	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
RCV000778788 rs200818962 RCV000224429 CA3729360	374	R>*	Trichohepatoenteric syndrome 2 Trichohepatoenteric syndrome 2 (thes2) [ClinVar, Ensembl]	Yes	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001882487 rs776131482 RCV001155450 CA3729365 TCGA novel	378	G>R	Variant assessed as Somatic; impact. Trichohepatoenteric syndrome 2 [NCI-TCGA, ClinVar]	Yes	ExAC TOPMed gnomAD NCI-TCGA ClinGen ClinVar dbSNP
RCV001155451 CA3729367 rs764335100	382	L>Q	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
rs886061307 RCV000397986 CA10626463	384	T>I	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
RCV001155452 rs1772553546	393	A>T	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
rs138507648 CA3729403 RCV001155453	415	R>W	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA3729433 RCV001027997 rs750250320	433	R>C	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
CA3729451 RCV001157125 RCV001859023 rs149518958	459	N>S	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1562659544 RCV000022974 RCV001008816	546	G>missing	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
RCV001157128 RCV001859024 rs148748996 CA3729530	546	G>D	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001157129 rs775680687 RCV002032452 CA3729549	551	R>C	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000269162 RCV001850893 CA3729560 rs746401418	565	A>V	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA3729564 rs144147284 RCV000326533 RCV001514657	569	V>M	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs886061308 RCV000364868 CA10626473	603	F>S	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	Ensembl ClinGen ClinVar dbSNP
RCV001151680 rs761742617 CA3729631	643	L>F	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs61761946 RCV001151682 CA3729674	684	H>Q	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000377210 rs762436773 CA10626631	687	S>Y	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001861275 rs751980634 RCV000285162 CA3729678	690	R>W	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ExAC gnomAD ClinGen ClinVar dbSNP
COSM1568412 RCV000323961 rs768031925 RCV001850894 COSM1568413 CA3729695	722	R>Q	Trichohepatoenteric syndrome 2 Variant assessed as Somatic; 0.0 impact. large_intestine [ClinVar, NCI-TCGA, Cosmic]	Yes	ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar NCI-TCGA dbSNP
RCV001850895 CA3729760 RCV000405130 rs369020218	801	M>V	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV003128561 RCV001154717 CA3729771 RCV001859013 CA3729769 rs148221996	814	W>C	Trichohepatoenteric syndrome 2 Trichohepatoenteric syndrome 2 (thes2) [ClinVar, Ensembl]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA3729772 RCV000292963 rs746407907	816	E>K	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001154718 rs1244150559 CA363473663	822	Q>E	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	gnomAD ClinGen ClinVar dbSNP
rs3911893 RCV000350177 CA3729842 VAR_055889 RCV001512221	887	D>N	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
RCV001089506 RCV001862657 rs770099418	888	R>missing	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
CA3729850 rs578239723 RCV001155552 RCV001882489	902	V>M	Trichohepatoenteric syndrome 2 Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	1000Genomes ExAC gnomAD ClinGen ClinVar NCI-TCGA dbSNP
RCV001515327 RCV000315085 CA3729865 rs106287 VAR_055890	917	V>M	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
RCV000362826 rs142436411 CA3729867 RCV001861276	922	P>A	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1582187890 RCV000850156	993	M>missing	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
CA3729970 RCV001157241 rs373527237	1026	K>R	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV001885169 RCV001784970 rs138923214 RCV003155429 CA3730001	1063	R>*	Trichohepatoenteric syndrome Trichohepatoenteric syndrome 2 Trichohepatoenteric syndrome 2 (thes2) [ClinVar, Ensembl]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
VAR_055891 CA3730008 RCV000366702 RCV001518267 RCV000455538 rs449643	1071	A>V	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar UniProt dbSNP
RCV000322485 CA3730023 RCV002524474 rs780107431	1104	R>W	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000360935 RCV002058600 rs553733225 CA3730055	1137	R>C	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	1000Genomes ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA3730060 RCV000268624 RCV001850896 rs146401600	1144	R>W	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA3730064 RCV000316698 rs747936095 RCV001850897	1156	Q>L	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
RCV000985128 rs1582192007 RCV001732004	1189	S>missing	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
rs1554292539 RCV000778789	1213	A>missing	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinVar dbSNP
CA3730119 RCV001861277 rs774251531 RCV000386563	1240	A>V	Trichohepatoenteric syndrome 2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs752807459 CA363432045	2	M>R		No	ExAC TOPMed gnomAD ClinGen
CA3729018 rs752807459	2	M>T		No	ExAC TOPMed gnomAD ClinGen
CA136905024 rs199777783	2	M>V		No	Ensembl ClinGen
rs557492102 CA3729019	3	E>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs544634008 CA3729048	10	P>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1297462862 CA363432387	10	P>S		No	gnomAD ClinGen
rs1297462862 CA363432396	10	P>T		No	gnomAD ClinGen
CA3729050 rs563036739	11	P>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
TCGA novel	11	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3729049 rs563036739	11	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363432501 rs747784915	14	P>A		No	ExAC gnomAD ClinGen
CA363432525 rs1211067693	14	P>L		No	gnomAD ClinGen
CA3729051 rs747784915	14	P>T		No	ExAC gnomAD ClinGen
rs748648920 CA3729052	17	L>P		No	ExAC TOPMed gnomAD ClinGen
rs1187692171 CA363432619	18	P>L		No	TOPMed ClinGen
rs777129762 CA3729053	19	L>R		No	ExAC gnomAD ClinGen
rs746481824 CA363432675	20	R>G		No	ExAC TOPMed gnomAD ClinGen
rs1376201005 CA363432685	20	R>L		No	gnomAD ClinGen
rs746481824 CA3729054	20	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA363432700 rs1436802409	21	A>S		No	gnomAD ClinGen
TCGA novel	21	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1243134558 CA363432704	21	A>V		No	TOPMed ClinGen
CA363432709 rs1202090541	22	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1378929217 CA363432748	25	G>R		No	gnomAD ClinGen
rs1012647427 CA136905224	26	C>Y		No	TOPMed ClinGen
rs1359906028 CA363432979	30	W>*		No	ClinGen gnomAD
rs1258895863 CA363433045	32	L>V		No	TOPMed ClinGen
CA363433359 rs1290509599	40	E>G		No	gnomAD ClinGen
CA3729068 rs765116656	43	L>F		No	ExAC TOPMed gnomAD ClinGen
CA3729067 rs765116656	43	L>I		No	ExAC TOPMed gnomAD ClinGen
rs758014160 CA3729069	44	P>S		No	ExAC gnomAD ClinGen
rs1441221182 CA363433823	46	G>D		No	gnomAD ClinGen
rs1374157003 COSM230094 CA363434004	49	P>L	NS [Cosmic]	No	gnomAD ClinGen cosmic curated
rs1582164802 CA363433956	49	P>S		No	Ensembl ClinGen
rs139964520 CA136905563	51	A>S		No	ESP TOPMed ClinGen
rs1307066260 CA363434092	51	A>V		No	gnomAD ClinGen
CA363434100 rs1318061844	52	P>L		No	gnomAD ClinGen
CA136905569 rs1015939792	52	P>S		No	TOPMed ClinGen
CA3729072 rs756736414	54	L>P		No	ExAC gnomAD ClinGen
CA3729073 rs551281200	56	Q>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs770183992 CA3729075	58	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1237847495 CA363434374	59	E>K		No	ClinGen gnomAD
RCV001520794 rs35985869 CA3729076 RCV000731494	60	Q>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs749615019 CA3729077	62	F>C		No	ClinGen ExAC gnomAD
rs1423182629 COSM3830146 CA363434634 COSM3830147	66	P>L	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
TCGA novel	66	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771992252 CA3729078	67	A>G		No	ExAC TOPMed gnomAD ClinGen
rs1381904435 CA363434663	67	A>S		No	ClinGen TOPMed
rs771992252 CA3729079	67	A>V		No	ExAC TOPMed gnomAD ClinGen
rs1330417526 CA363434785	70	P>L		No	gnomAD ClinGen
rs1461800594 CA363434764	70	P>S		No	ClinGen gnomAD
rs1333833350 CA363434830	72	H>D		No	TOPMed ClinGen
rs761809577 CA3729080	72	H>P		No	ExAC gnomAD ClinGen
CA136905580 rs775469348	72	H>Q		No	Ensembl ClinGen
CA3729081 rs767618196	75	E>D		No	ExAC gnomAD ClinGen
CA136905581 rs919156711	75	E>K		No	Ensembl ClinGen
rs776772252 CA3729082	77	S>L		No	ClinGen ExAC TOPMed gnomAD
rs765221177 CA3729084	79	R>Q	Variant assessed as Somatic; 4.623e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1245838326 CA363435422	83	R>K		No	TOPMed ClinGen
CA136905646 rs763890666	87	P>L		No	TOPMed gnomAD ClinGen
rs773400104 CA3729100	88	W>L		No	ExAC gnomAD ClinGen
CA363435601 rs1438641225	88	W>R		No	ClinGen TOPMed
rs760800093 CA3729102	89	S>C		No	ExAC TOPMed gnomAD ClinGen
rs760800093 CA3729101	89	S>F		No	ExAC TOPMed gnomAD ClinGen
rs1282486654 CA363435665	89	S>T		No	gnomAD ClinGen
COSM1329791 CA136905661 rs753846268 COSM1329790	92	A>S	ovary Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs762716779 CA3729104	94	L>R		No	ExAC gnomAD ClinGen
TCGA novel	95	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363435982 rs763946990	96	A>G		No	ExAC TOPMed gnomAD ClinGen
rs956389551 CA136905668	96	A>T		No	TOPMed ClinGen
CA3729105 rs763946990	96	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3729106 rs567793430	99	P>A		No	1000Genomes ExAC gnomAD ClinGen
rs761504568 CA3729107	100	S>T		No	ExAC gnomAD ClinGen
rs1375454813 CA363436128	101	D>E		No	TOPMed gnomAD ClinGen
COSM1443420 rs1174989838 CA363436121 COSM1443419	101	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs1267547357 CA363436235	104	A>V		No	TOPMed ClinGen
TCGA novel	106	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363436294 rs1219687437	106	R>K		No	TOPMed ClinGen
rs1318196484 CA363436342	107	H>Q		No	TOPMed gnomAD ClinGen
rs1435923767 CA363436329	107	H>Y		No	gnomAD ClinGen
CA363436343 rs1343929065	108	P>T		No	gnomAD ClinGen
CA136905684 rs145242631	109	T>S		No	ESP TOPMed gnomAD ClinGen
CA363436747 rs1367181439	117	K>T		No	gnomAD ClinGen
rs1232274729 CA363436805	118	E>K		No	ClinGen gnomAD
rs905508146 CA136905802	122	E>D		No	TOPMed ClinGen
CA136905799 rs960220356	122	E>K		No	ClinGen gnomAD
rs149150657 CA3729133	125	N>D		No	ESP ExAC TOPMed gnomAD ClinGen
CA136905812 rs1035775855	128	A>G		No	TOPMed ClinGen
rs376420612 CA3729139	131	S>F		No	ESP ExAC gnomAD ClinGen
CA363437898 rs141819862	134	L>F		No	ESP ExAC TOPMed gnomAD ClinGen
rs141819862 CA3729140	134	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA3729141 rs747949471	135	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3729142 rs369920218	135	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs968897752 CA136905838	136	R>Q		No	TOPMed gnomAD ClinGen
CA136905835 rs753105736	136	R>W		No	gnomAD ClinGen
CA363438034 rs1326941857	137	P>L		No	TOPMed gnomAD ClinGen
CA363438068 rs1582166674	139	G>R		No	ClinGen Ensembl
rs772912589 CA3729143	140	P>S		No	ExAC gnomAD ClinGen
CA363438290 CA3729145 rs765851263	146	W>R		No	ExAC TOPMed gnomAD ClinGen
rs1462061473 CA363438420 COSM483886	149	P>L	kidney Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	TOPMed ClinGen cosmic curated NCI-TCGA
rs759032324 CA3729146	151	Q>*		No	ExAC TOPMed gnomAD ClinGen
rs1018513016 CA136905843	151	Q>H		No	TOPMed ClinGen
CA3729171 rs764648856	157	G>A		No	ExAC ClinGen
CA363440184 rs1373664232	159	M>I		No	gnomAD ClinGen
rs752004431 CA3729172	160	D>A		No	ExAC TOPMed gnomAD ClinGen
CA363440310 rs148127015	164	I>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs750595961 CA3729175	164	I>T		No	ExAC gnomAD ClinGen
CA3729174 rs148127015	164	I>V		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs756283385 CA3729176	165	T>A		No	ExAC gnomAD ClinGen
rs1389132598 CA363440384	166	D>E		No	TOPMed ClinGen
CA3729177 rs779962974	166	D>G		No	ExAC gnomAD ClinGen
CA363440393 rs141207263	167	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA3729178 rs141207263	167	L>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs758350406 CA3729180	169	T>I		No	ExAC gnomAD ClinGen
rs1257140154 CA363440491	170	R>L		No	gnomAD ClinGen
CA363440486 rs1257140154	170	R>Q		No	gnomAD ClinGen
CA3729181 rs150758406	170	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ESP ExAC gnomAD ClinGen NCI-TCGA
rs746823472 CA3729182	173	A>G		No	ClinGen ExAC gnomAD
CA363440620 rs1485827448	173	A>T		No	TOPMed gnomAD ClinGen
rs1009985642 CA136905972	174	E>D		No	TOPMed ClinGen
rs1215585544 CA363440752	176	E>G		No	gnomAD ClinGen
rs566468015 CA3729183	176	E>K		No	1000Genomes ExAC gnomAD ClinGen
rs527490048 CA3729184	177	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3729185 rs549112981	178	D>G		No	1000Genomes ExAC gnomAD ClinGen
rs769396805 CA3729186	179	F>L		No	ClinGen ExAC gnomAD
rs1393474806 CA363440861	179	F>L		No	gnomAD ClinGen
rs1161768675 CA363440895	179	F>S		No	TOPMed ClinGen
CA363441006 rs1174334117	180	E>D		No	gnomAD ClinGen
CA363441040 rs1363213737	181	K>N		No	gnomAD ClinGen
CA363441340 rs1562653784	182	D>G		No	ClinGen Ensembl
CA3729205 rs748821652	183	L>I		No	ExAC gnomAD ClinGen
VAR_035944	183	L>V	a breast cancer sample; somatic mutation [UniProt]	No	UniProt
rs1370473376 CA363441391	184	L>F		No	TOPMed gnomAD ClinGen
CA363441380 rs1370473376	184	L>V		No	ClinGen TOPMed gnomAD
CA363441449 rs1309832207	185	T>I		No	gnomAD ClinGen
rs1309832207 CA363441456	185	T>S		No	ClinGen gnomAD
CA363441492 rs1330420994	186	I>V		No	ClinGen gnomAD
rs149467306 CA3729207	187	P>A		No	ESP ExAC TOPMed gnomAD ClinGen
CA3729208 rs762195642	187	P>L		No	ExAC gnomAD ClinGen
CA363441613 rs1337232131	188	P>L		No	gnomAD ClinGen
rs772532899 CA3729209	189	G>A		No	ExAC gnomAD ClinGen
CA136906122 rs1047447335	189	G>R		No	Ensembl ClinGen
rs773467921 CA3729210	192	K>E		No	ExAC gnomAD ClinGen
rs1479728099 CA363441793	193	G>R		No	TOPMed gnomAD ClinGen
rs761058768 CA3729211	195	D>G		No	ExAC ClinGen
rs1178994829 CA363441886	195	D>Y		No	gnomAD ClinGen
rs754049144 CA3729213	197	A>T		No	ExAC gnomAD ClinGen
rs759682611 CA3729214	200	D>Y		No	ExAC gnomAD ClinGen
CA363442378 rs1562654056	201	C>F		No	Ensembl ClinGen
rs145930212 CA363442497	203	T>A		No	ESP ExAC TOPMed gnomAD ClinGen
CA3729228 rs145930212	203	T>P		No	ESP ExAC TOPMed gnomAD ClinGen
rs1023326923 CA136906170	205	A>G		No	ClinGen Ensembl
rs1185707407 CA363442563	205	A>T		No	gnomAD ClinGen
rs1204547908 CA363442657	207	G>R		No	TOPMed ClinGen
rs1205383815 CA363442711	208	L>P		No	gnomAD ClinGen
rs1417018971 CA363442698	208	L>V		No	ClinGen gnomAD
rs1436753970 CA363442804	210	S>G		No	TOPMed ClinGen
rs951400569 CA136906174	211	L>F		No	ClinGen TOPMed gnomAD
rs772482936 CA3729230	212	S>R		No	ExAC TOPMed gnomAD ClinGen
CA363442974 rs1362289129	213	C>F		No	TOPMed ClinGen
CA363442962 rs1362289129	213	C>Y		No	ClinGen TOPMed
rs437179	214	M>M		No	1000Genomes ESP ExAC TOPMed gnomAD
CA363443208 rs1215018629	216	E>D		No	gnomAD ClinGen
CA363443225 rs1311647511	217	P>A		No	gnomAD ClinGen
rs747345058 CA3729232	221	G>D		No	ExAC gnomAD ClinGen
CA136906184 rs747345058	221	G>V		No	ExAC gnomAD ClinGen
CA363443449 rs1449304181	222	G>E		No	gnomAD ClinGen
rs1016964196 CA136906193	222	G>W		No	TOPMed ClinGen
CA3729234 rs74660126	225	E>K		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3729235 rs759736081	226	D>H		No	ExAC gnomAD ClinGen
rs1193941585 CA363443685	227	E>K		No	Ensembl ClinGen
rs1282467517 CA363443979	232	G>E		No	ClinGen gnomAD
rs1353992704 CA363443971	232	G>R		No	ClinGen TOPMed
rs969421193 CA136906208	233	Q>K		No	TOPMed gnomAD ClinGen
rs775464427 CA3729238	235	G>A		No	ExAC gnomAD ClinGen
rs763023214 CA3729239	236	G>A		No	ExAC gnomAD ClinGen
TCGA novel	238	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1240075495 CA363444500	243	S>L		No	gnomAD ClinGen
CA363444447 rs1385791269	243	S>T		No	TOPMed ClinGen
CA363444556 rs1188746994	244	A>D		No	gnomAD ClinGen
rs1188746994 CA363444558	244	A>G		No	ClinGen gnomAD
CA3729240 rs767371237	244	A>S		No	ExAC gnomAD ClinGen
TCGA novel	244	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136906210 rs980887863	245	S>A		No	TOPMed gnomAD ClinGen
rs955849508 CA136906213	246	P>L		No	TOPMed gnomAD ClinGen
CA363444631 rs1562654402	246	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	Ensembl ClinGen NCI-TCGA
CA136906225 rs913977856	248	S>R		No	Ensembl ClinGen
CA3729243 rs370200558	249	A>T		No	ESP ExAC TOPMed gnomAD ClinGen
CA363444982 rs1248966037	253	R>L		No	TOPMed ClinGen
rs527540111 CA3729246	254	A>G		No	1000Genomes ExAC gnomAD ClinGen
rs775375921 CA3729247	255	S>R		No	ExAC gnomAD ClinGen
rs1490963488 CA363445109	256	S>R		No	TOPMed ClinGen
CA363445196 rs143738551	258	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1221249884 CA363445154	258	E>K		No	TOPMed ClinGen
rs747485776 CA3729250	259	D>N		No	ExAC gnomAD ClinGen
CA3729251 rs148466228	260	L>P		No	ClinGen ESP ExAC TOPMed
rs1772479673 RCV001309577	261	V>L		No	ClinVar dbSNP
rs770007732 CA3729254	263	K>N		No	ExAC TOPMed gnomAD ClinGen
rs1582169423 CA363445306	263	K>Q		No	Ensembl ClinGen
rs1331703049 CA363445528	265	A>T		No	gnomAD ClinGen
CA3729261 rs531553926	265	A>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs764808572 CA3729263	267	T>A		No	ExAC TOPMed gnomAD ClinGen
rs1228847498 CA363445607	267	T>I		No	ClinGen gnomAD
rs752379373 CA3729264	268	A>T		No	ExAC gnomAD ClinGen
rs1332234278 CA363445654	269	V>I		No	gnomAD ClinGen
rs757889705 CA3729265	270	S>P		No	ClinGen ExAC gnomAD
CA136906331 rs901329684	271	T>I		No	TOPMed ClinGen
CA363446082 rs1300738312	278	P>R		No	TOPMed ClinGen
rs1436775487 CA363446107	279	S>F		No	gnomAD ClinGen
CA3729268 rs757796618	286	P>L		No	ExAC gnomAD ClinGen
rs151070502 CA3729270	289	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed ClinGen NCI-TCGA
CA3729271 rs140981385	290	T>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA3729274 rs768665586	292	P>R		No	ClinGen ExAC gnomAD
CA363446665 rs1409515150	292	P>S		No	TOPMed gnomAD ClinGen
CA363446731 rs774511219	294	G>C		No	ClinGen ExAC TOPMed gnomAD
CA3729275 rs774511219	294	G>S		No	ExAC TOPMed gnomAD ClinGen
CA3729276 rs761943195	297	Y>C		No	ExAC TOPMed gnomAD ClinGen
CA363446957 rs761943195	297	Y>F		No	ExAC TOPMed gnomAD ClinGen
rs547774154 CA3729277	298	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3729278 rs776649987	298	R>H		No	ExAC TOPMed gnomAD ClinGen
CA363446971 rs547774154	298	R>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1217219614 CA363447048	300	I>N		No	ClinGen Ensembl
rs762693531 CA3729282	301	P>L		No	ClinGen ExAC gnomAD
CA363447185 rs1206448319	302	Q>H		No	TOPMed gnomAD ClinGen
rs756699458 CA3729285	303	P>A		No	ExAC gnomAD ClinGen
rs1324611062 CA363447207	303	P>R		No	TOPMed ClinGen
rs1190034129 CA363447337	306	Q>R		No	gnomAD ClinGen
rs1240726362 CA363447501	307	W>*		No	TOPMed ClinGen
TCGA novel	308	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363447637 rs1300542882	310	E>G		No	gnomAD ClinGen
CA363447941 rs1236003571	318	A>S		No	gnomAD ClinGen
CA3729306 rs750975689	319	I>V		No	ExAC gnomAD ClinGen
CA3729308 rs766755028	323	E>*		No	ExAC gnomAD ClinGen
CA136906613 rs1054326260	324	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA3729311 rs779332838	326	D>A		No	ExAC TOPMed gnomAD ClinGen
rs779332838 CA363448386	326	D>G		No	ExAC TOPMed gnomAD ClinGen
rs1363136129 CA363448418	327	S>P		No	gnomAD ClinGen
rs748373992 CA3729312	328	V>A		No	ExAC gnomAD ClinGen
CA3729313 rs758602224	330	V>I		No	ExAC TOPMed gnomAD ClinGen
rs764097192 CA3729315	331	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs769779986 CA3729316	333	H>D		No	ExAC TOPMed gnomAD ClinGen
rs1451023512 CA363448676	333	H>P		No	TOPMed ClinGen
rs769779986 CA363448667	333	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs1386811781 CA363448903	336	A>S		No	gnomAD ClinGen
CA3729320 rs200093212	340	V>A		No	ESP ExAC TOPMed gnomAD ClinGen
rs559684958 CA3729319	340	V>I		No	1000Genomes ExAC gnomAD ClinGen
CA363449228 rs1267122036	344	Y>H		No	TOPMed ClinGen
TCGA novel	345	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3729322 rs767106312	346	I>T		No	ExAC gnomAD ClinGen
rs147103078 CA3729323	347	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs878853054 CA10581335 RCV000224831	349	A>D		No	gnomAD ClinGen ClinVar dbSNP
CA363449525 rs1263873704	349	A>T		No	ClinGen gnomAD
rs149199961 CA3729326	353	M>V		No	ESP ExAC gnomAD ClinGen
CA3729327 rs755433965	354	T>I		No	ExAC gnomAD ClinGen
rs765663885 CA3729328	355	R>C		No	ExAC TOPMed gnomAD ClinGen
CA3729329 rs753065173	355	R>H		No	ExAC TOPMed gnomAD ClinGen
CA3729349 rs764468835	358	Y>*		No	ExAC gnomAD ClinGen
CA136906851 rs1056757953	358	Y>C		No	TOPMed gnomAD ClinGen
CA136906865 rs143334743	359	T>N		No	ESP TOPMed gnomAD ClinGen
rs751726656 CA3729350	360	S>L		No	ExAC TOPMed gnomAD ClinGen
CA363450250 rs1340181353	361	P>L		No	gnomAD ClinGen
TCGA novel	365	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3729354 rs754937769	368	Q>*		No	ClinGen ExAC gnomAD
rs781067999 CA136906882	369	K>E		No	gnomAD ClinGen
rs778754784 CA3729355	370	F>S		No	ExAC gnomAD ClinGen
rs560639276 CA136906895	371	R>G		No	ExAC TOPMed gnomAD ClinGen
rs771837264 CA3729358	371	R>P		No	ExAC TOPMed gnomAD ClinGen
rs771837264 CA3729357	371	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA3729356 rs560639276	371	R>W		No	ExAC TOPMed gnomAD ClinGen
rs1450859086 CA363450743	372	D>E		No	TOPMed gnomAD ClinGen
rs746607453 CA136906934	373	F>L		No	ExAC TOPMed gnomAD ClinGen
CA363450772 rs1168668781	373	F>V		No	ClinGen TOPMed gnomAD
rs776038879 CA3729361	374	R>Q		No	ExAC gnomAD ClinGen
rs371878469 CA3729362	375	N>D		No	ESP ExAC gnomAD ClinGen
rs1449169481 CA363450916	376	T>A		No	gnomAD ClinGen
rs369294396 CA136907003	378	G>E		No	ClinGen ESP
CA3729366 rs763479284	381	G>E		No	ClinGen ExAC gnomAD
rs761966719 CA3729369 CA363451389	385	G>R		No	ExAC TOPMed gnomAD ClinGen
CA363451497 rs1465922948	388	Q>R		No	gnomAD ClinGen
rs1251780343 CA363451540	389	L>P		No	gnomAD ClinGen
rs1562656639 CA363451576	390	H>Y		No	Ensembl ClinGen
rs527940427 CA3729372	391	P>L		No	ExAC gnomAD ClinGen
TCGA novel	392	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142429431 CA3729374	392	E>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA363451805 rs1158882783	394	S>F		No	gnomAD ClinGen
rs777406095 CA3729376	395	C>S		No	ExAC TOPMed gnomAD ClinGen
CA3729377 rs746781902	396	L>F		No	ExAC gnomAD ClinGen
CA363451982 rs1159404256 RCV001320198	397	I>T		No	TOPMed ClinGen ClinVar dbSNP
rs1456420484 CA363452021	398	M>V		No	TOPMed ClinGen
CA3729380 rs745433848	404	R>C		No	ExAC TOPMed gnomAD ClinGen
CA363453619 rs1276606764	404	R>H		No	gnomAD ClinGen
CA363453911 rs1368119763	406	M>V		No	gnomAD ClinGen
rs1262555031 CA363453960	407	L>P		No	gnomAD ClinGen
CA136908103 rs962422508	408	Y>S		No	TOPMed ClinGen
CA363454079 rs1175950771	409	S>N		No	TOPMed ClinGen
CA136908110 rs11541399	412	D>N		No	TOPMed gnomAD ClinGen
rs11541399 CA136908108	412	D>Y		No	TOPMed gnomAD ClinGen
CA3729402 rs769045713	413	V>I		No	ExAC gnomAD ClinGen
CA363454333 rs1429149651	415	R>Q		No	gnomAD ClinGen
rs748516211 CA3729404	417	L>M		No	ExAC gnomAD ClinGen
rs1198138969 CA363454473	417	L>P		No	TOPMed gnomAD ClinGen
CA363454550 rs1393162235	418	E>D		No	gnomAD ClinGen
rs1333180626 CA363454499	418	E>K		No	gnomAD ClinGen
rs773462911 CA3729406	419	W>R		No	ExAC TOPMed gnomAD ClinGen
rs371905619 CA136908139	421	I>V		No	ESP TOPMed ClinGen
CA363454954 rs1207917990	427	Y>C		No	TOPMed ClinGen
CA3729407 rs541520263	427	Y>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363454985 rs1359595773	428	I>T		No	gnomAD ClinGen
rs776721859 CA3729409	429	N>S		No	ExAC gnomAD ClinGen
CA3729411 COSM1242847 rs763997095 COSM1242846	430	D>N	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA136908202 rs767586610	430	D>V		No	ClinGen Ensembl
CA363455154 rs1582173149	432	E>K		No	Ensembl ClinGen
CA3729434 rs760486892	433	R>H		No	ExAC TOPMed gnomAD ClinGen
CA363455400 rs1455273624	436	V>M		No	gnomAD ClinGen
CA363455496 rs1385711068	441	L>R		No	TOPMed gnomAD ClinGen
CA136908364 rs764335136	441	L>V		No	TOPMed gnomAD ClinGen
CA136908366 rs377676679	442	I>M		No	ClinGen TOPMed gnomAD
rs150810433 CA3729438	443	M>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA3729437 rs150810433	443	M>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs1455542193 CA363455579	445	P>A		No	TOPMed gnomAD ClinGen
rs752099021 CA3729440	445	P>R		No	ExAC gnomAD ClinGen
CA3729441 rs758934480	446	D>G		No	ExAC gnomAD ClinGen
rs55944343 CA3729443	447	H>R		No	ExAC gnomAD ClinGen
CA3729442 rs778184511	447	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1209316785 CA363455650	448	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs781309081 COSM1643018 COSM1643017 CA3729446	450	I>V	stomach [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs1199337003 CA363455739	452	L>H		No	gnomAD ClinGen
CA136908428 RCV001339339 rs995239595	457	V>I		No	TOPMed gnomAD ClinGen ClinVar dbSNP
CA3729450 rs762876701	458	P>S		No	ExAC gnomAD ClinGen
CA363455880 rs149518958	459	N>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs760609791 CA3729453	460	A>T		No	ClinGen ExAC gnomAD
CA136908445 rs553829279	461	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	1000Genomes ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA363455934 rs1304160636	461	L>P		No	TOPMed gnomAD ClinGen
rs553829279 CA3729454	461	L>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3729455 rs753482699	462	E>G		No	ExAC gnomAD ClinGen
rs764755401 CA3729457	463	F>I		No	ExAC gnomAD ClinGen
rs762491737 CA3729477	469	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs1390121590 CA363456250	469	R>W		No	gnomAD ClinGen
TCGA novel	470	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763572954 CA3729479	471	K>Q		No	ExAC gnomAD ClinGen
rs552443266 CA3729480	472	R>C		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363456304 rs552443266	472	R>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA136908658 rs144001502	472	R>H		No	ESP TOPMed gnomAD ClinGen
CA3729481 rs757796553	473	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1013759875 CA136908670	473	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA363456393 rs1344343597	474	Q>*		No	gnomAD ClinGen
TCGA novel	474	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1362971245 CA363456528	477	V>L		No	TOPMed gnomAD ClinGen
CA363456522 rs1362971245	477	V>M		No	TOPMed gnomAD ClinGen
CA363456589 rs1213019738	478	I>M		No	TOPMed ClinGen
rs1582174768 CA363456562	478	I>V		No	Ensembl ClinGen
CA136908687 rs908339519	480	T>A		No	ClinGen Ensembl
rs570857631 CA136908692	482	T>I		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs570857631 CA3729483	482	T>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs779670171 CA3729484	483	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1562658753 CA363456715	483	R>H		No	Ensembl ClinGen
rs780388389 CA3729486	484	P>S		No	ExAC gnomAD ClinGen
rs528764402 CA363456789 CA3729488	485	V>L		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs528764402 CA363456791	485	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1187418307 CA363456826	486	P>T		No	gnomAD ClinGen
CA3729491 rs770904293	487	L>P		No	ClinGen ExAC gnomAD
CA3729490 rs748198192	487	L>V		No	ExAC gnomAD ClinGen
rs745743836 CA3729493	489	H>R		No	ExAC gnomAD ClinGen
CA3729492 rs776373528	489	H>Y		No	ExAC gnomAD ClinGen
rs769446596 CA3729494	490	Y>C		No	ExAC TOPMed gnomAD ClinGen
rs775172706 CA3729495	491	L>F		No	ExAC ClinGen
rs1025133175 CA136908737	493	T>A		No	TOPMed gnomAD ClinGen
CA363457260 rs1414100535	494	G>A		No	TOPMed ClinGen
rs1320005364 CA363457234	494	G>R		No	gnomAD ClinGen
rs1386592454 CA363457270	495	N>Y		No	gnomAD ClinGen
CA3729496 rs762617334	496	S>I		No	ExAC TOPMed gnomAD ClinGen
CA3729497 rs762617334	496	S>T		No	ExAC TOPMed gnomAD ClinGen
rs773859530 CA3729498	498	K>N		No	ExAC gnomAD ClinGen
rs1473923168 CA363457483	498	K>R		No	TOPMed ClinGen
rs546839196 CA3729499	502	E>D		No	1000Genomes ExAC gnomAD ClinGen
rs1366742948 CA363457654	502	E>Q		No	gnomAD ClinGen
TCGA novel	502	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303078996 CA363457847	505	L>S		No	ClinGen gnomAD
rs1184948228 CA363457917	508	D>N		No	ClinGen TOPMed
rs1323855773 CA363457958	509	S>F		No	gnomAD ClinGen
rs768131466 CA3729500	510	R>*		No	ClinGen ExAC gnomAD
CA363458005 rs1265825486	510	R>Q		No	TOPMed gnomAD ClinGen
CA3729501 rs750887403	512	A>T		No	ExAC gnomAD ClinGen
TCGA novel	512	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs566789909 CA136908760	515	T>R		No	Ensembl ClinGen
rs773814015 CA3729518	519	Y>C		No	ExAC gnomAD ClinGen
rs771449630 CA3729517	519	Y>N		No	ExAC gnomAD ClinGen
CA363458629 rs1413522825	523	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1159255525 CA363458754	526	K>T		No	gnomAD ClinGen
CA363458824 rs1403656726	527	E>G		No	gnomAD ClinGen
CA363458797 rs1413222398	527	E>K		No	gnomAD ClinGen
rs766951489 CA3729520	529	M>I		No	ExAC TOPMed gnomAD ClinGen
CA363458919 rs1165461512	529	M>T		No	gnomAD ClinGen
rs1407917075 CA363459060	532	H>R		No	TOPMed ClinGen
rs903311154 CA136908948	533	A>P		No	gnomAD ClinGen
CA363459098 rs903311154	533	A>T		No	gnomAD ClinGen
CA3729522 rs759920825	533	A>V		No	ExAC TOPMed gnomAD ClinGen
CA363459194 rs1247704791	535	T>A		No	TOPMed ClinGen
rs1442429269 CA363459225	535	T>I		No	gnomAD ClinGen
rs752938474 RCV001344030 CA3729524	538	A>G		No	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA363459318 rs1229523583	538	A>T		No	gnomAD ClinGen
rs200366794 CA3729525	539	K>R		No	ExAC TOPMed gnomAD ClinGen
rs1204923476 CA363459380	540	Q>*		No	gnomAD ClinGen
rs1250017814 CA363459478	541	P>S		No	gnomAD ClinGen
CA363459517 rs1439889222	542	T>I		No	gnomAD ClinGen
rs1772636037 RCV001302293	543	H>R		No	ClinVar dbSNP
rs777738325 CA3729526	544	Q>R		No	ExAC TOPMed ClinGen
rs756013706 CA3729528	545	G>E		No	ExAC TOPMed gnomAD ClinGen
rs751619652 CA3729527	545	G>W		No	ClinGen ExAC gnomAD
CA3729531 rs148748996	546	G>A		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs779912436 CA3729529	546	G>S		No	ExAC gnomAD ClinGen
rs778573164 CA3729532	549	Q>R		No	ExAC gnomAD ClinGen
rs1228634806 CA363460174	550	D>E		No	gnomAD ClinGen
CA3729548 rs757348882	550	D>N		No	ExAC gnomAD ClinGen
CA3729550 rs753741305	551	R>H		No	ExAC TOPMed gnomAD ClinGen
rs753741305 CA136909202	551	R>L		No	ExAC TOPMed gnomAD ClinGen
CA363460181 rs775680687	551	R>S		No	ExAC TOPMed gnomAD ClinGen
CA136909211 rs899575697	552	G>A		No	Ensembl ClinGen
CA3729552 rs144670908	552	G>R		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1206899509 CA363460494	556	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs1447449827 CA363460536	557	L>P		No	gnomAD ClinGen
CA3729556 rs777425724	562	R>C		No	ExAC TOPMed gnomAD ClinGen
rs147878364 CA3729557	562	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs147878364 CA3729558	562	R>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs764328308 CA3729559	564	R>C		No	ExAC gnomAD ClinGen
rs764328308 CA136909246	564	R>G		No	ExAC gnomAD ClinGen
CA363460815 rs1176782736	564	R>H		No	TOPMed gnomAD ClinGen
RCV001009103 rs766089213	566	Q>missing		No	ClinVar dbSNP
rs1290059466 CA363460928	567	L>V		No	gnomAD ClinGen
TCGA novel	568	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs970989202 CA136909262	569	V>G		No	Ensembl ClinGen
CA3729565 rs144147284	569	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1323436504 CA363461014	570	V>M		No	gnomAD ClinGen
CA363461103 rs774631467	572	F>L		No	ExAC gnomAD ClinGen
rs774631467 CA3729566	572	F>V		No	ExAC gnomAD ClinGen
rs1328669965 CA363461395	575	S>F		No	gnomAD ClinGen
CA3729568 rs374603181	576	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs761924927 CA3729567	576	R>W		No	ExAC TOPMed gnomAD ClinGen
CA3729569 rs145339784	577	G>S		No	ESP ExAC gnomAD ClinGen
rs762204789 CA3729570	578	R>C		No	ExAC TOPMed gnomAD ClinGen
CA3729571 rs765151233	578	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
TCGA novel	580	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3729573 rs758198940	581	E>A		No	ExAC gnomAD ClinGen
rs777354548 CA3729574	581	E>D		No	ExAC gnomAD ClinGen
rs752448333 CA3729572	581	E>K		No	ExAC gnomAD ClinGen
CA363461644 rs1433217703	582	Q>*		No	gnomAD ClinGen
CA363461762 rs1160700895	583	A>T		No	gnomAD ClinGen
TCGA novel	584	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1582176664 CA363461860	586	L>V		No	Ensembl ClinGen
rs1315052874 CA363461992	589	L>F		No	gnomAD ClinGen
CA3729577 rs780882273	590	D>H		No	ExAC gnomAD ClinGen
CA363462014 rs780882273	590	D>N		No	ExAC gnomAD ClinGen
CA363462037 rs780882273	590	D>Y		No	ExAC gnomAD ClinGen
rs1399537184 CA363462084	591	L>F		No	gnomAD ClinGen
CA363462136 rs1407150204	592	T>I		No	ClinGen gnomAD
rs1166948584 CA363462167	593	T>I		No	TOPMed ClinGen
CA136909333 rs867606706	595	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs1389930960 CA363462353	596	E>A		No	gnomAD ClinGen
rs1309394301 CA363462464	598	S>G		No	gnomAD ClinGen
CA363462562 rs1364125618	599	E>D		No	gnomAD ClinGen
rs928754951 CA136909348	604	L>P		No	Ensembl ClinGen
CA3729580 rs776056530	605	Q>R		No	ExAC TOPMed gnomAD ClinGen
COSM76434 rs78026291 CA3729581	606	R>C	ovary [Cosmic]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen cosmic curated
rs150251463 CA3729582	606	R>H		No	ESP ExAC gnomAD ClinGen
CA3729583 rs759038413	607	C>Y		No	ExAC gnomAD ClinGen
rs552856186 CA3729585	610	R>C		No	1000Genomes ExAC gnomAD ClinGen
rs773282359 CA3729586	610	R>H		No	ExAC TOPMed gnomAD ClinGen
CA136909371 rs552856186	610	R>S		No	1000Genomes ExAC gnomAD ClinGen
CA3729587 rs760688585	612	R>C		No	ExAC TOPMed gnomAD ClinGen
rs778513862 CA136909385	612	R>H		No	gnomAD ClinGen
CA3729588 rs765144228	613	G>S		No	ExAC gnomAD ClinGen
CA363463195 rs1266814577	614	S>P		No	TOPMed ClinGen
CA3729589 rs752675855	615	D>E		No	ExAC TOPMed gnomAD ClinGen
rs762696081 CA3729590	616	R>C		No	ExAC TOPMed gnomAD ClinGen
COSM3697757 CA3729591 COSM3697758 rs763973489	616	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA3729616 rs755632967	621	V>A		No	ExAC gnomAD ClinGen
CA136909579 rs996367827	623	H>Y		No	TOPMed gnomAD ClinGen
CA363463974 rs1420722473	624	M>I		No	gnomAD ClinGen
CA3729619 rs753243584	626	E>Q		No	ExAC gnomAD ClinGen
rs1370144895 CA363464148	627	L>V		No	gnomAD ClinGen
rs755510637 CA3729620	630	R>C		No	ExAC TOPMed gnomAD ClinGen
CA363464282 rs1431710354	630	R>H		No	TOPMed gnomAD ClinGen
CA363464427 rs1343386490	633	G>D		No	TOPMed gnomAD ClinGen
COSM185531 CA363464430 rs1343386490	633	G>V	large_intestine [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
CA136909600 rs888137651	634	V>M		No	TOPMed gnomAD ClinGen
rs772419565 CA3729623	635	H>Y		No	ExAC gnomAD ClinGen
CA3729625 rs370867663	636	H>R		No	ESP ExAC gnomAD ClinGen
CA3729624 rs778009998	636	H>Y		No	ExAC gnomAD ClinGen
rs745880262 CA3729628	638	G>D		No	ExAC TOPMed gnomAD ClinGen
rs776776928 CA363464656	638	G>R		No	ClinGen ExAC gnomAD
rs776776928 CA3729627	638	G>S		No	ExAC gnomAD ClinGen
rs768698024 CA3729629	640	L>V		No	ExAC TOPMed gnomAD ClinGen
CA363464852 rs1490307103	642	I>M		No	gnomAD ClinGen
CA3729632 rs767402765	644	K>E		No	ExAC gnomAD ClinGen
rs767402765 CA136909647	644	K>Q		No	ExAC gnomAD ClinGen
rs1453367102 CA363464969	646	I>S		No	TOPMed ClinGen
rs760402924 CA3729634	647	V>M		No	ExAC gnomAD ClinGen
CA363465216 rs1159829627	652	S>N		No	gnomAD ClinGen
CA3729635 rs373944361	653	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA3729636 rs753399636	653	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs770187296 CA136910407	661	A>S		No	TOPMed gnomAD ClinGen
CA363466627 rs1439728541	661	A>V		No	ClinGen gnomAD
rs892338498 CA363466815	667	M>R		No	TOPMed gnomAD ClinGen
rs892338498 CA136910415	667	M>T		No	TOPMed gnomAD ClinGen
rs764527586 CA3729659	668	G>R		No	ExAC gnomAD ClinGen
TCGA novel	668	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1005814010 CA136910422	669	V>E		No	Ensembl ClinGen
rs752021698 CA3729660	669	V>I		No	ExAC TOPMed gnomAD ClinGen
rs752021698 CA363466865	669	V>L		No	ExAC TOPMed gnomAD ClinGen
rs1206804092 CA363466956	671	M>I		No	TOPMed ClinGen
CA3729661 rs757560372	671	M>V		No	ClinGen ExAC gnomAD
rs781520306 CA3729662	672	P>A		No	ClinGen ExAC gnomAD
CA3729663 rs565924623	674	R>C		No	ExAC gnomAD ClinGen
CA363467061 rs1017591846	674	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs1017591846 CA363467075	674	R>L		No	ClinGen TOPMed gnomAD
rs1017591846 CA136910434	674	R>P		No	TOPMed gnomAD ClinGen
rs756360568 CA3729664	675	T>A		No	ExAC gnomAD ClinGen
CA363467101 rs1582180704	675	T>R		No	Ensembl ClinGen
rs749310490 CA3729667	679	D>N		No	ExAC gnomAD ClinGen
rs772145457 CA3729668	680	S>F		No	ExAC gnomAD ClinGen
CA363467332 rs1227185078	681	M>I		No	TOPMed gnomAD ClinGen
rs1339275665 CA363467307	681	M>L		No	gnomAD ClinGen
rs1341534503 CA363467329	681	M>T		No	gnomAD ClinGen
rs145789524 CA3729669	682	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs145789524 CA363467348	682	R>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs746886184 CA3729670	682	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs776392902 CA3729672	683	K>N		No	ExAC gnomAD ClinGen
rs1442411159 CA363467476	685	D>G		No	ClinGen TOPMed
rs1460092849 CA363467463	685	D>N		No	gnomAD ClinGen
CA3729676 rs762436773	687	S>F		No	ExAC gnomAD ClinGen
CA3729679 rs762289077	690	R>Q		No	ExAC TOPMed gnomAD ClinGen
CA363467699 rs1175338511	691	D>G		No	gnomAD ClinGen
rs1394654916 CA363467731	693	L>F		No	TOPMed ClinGen
rs767798348 CA3729680	695	G>E		No	ClinGen ExAC gnomAD
TCGA novel	695	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1382197331 CA363467996	699	Q>K		No	gnomAD ClinGen
rs754026159 CA3729685	700	M>T		No	ClinGen ExAC
CA3729686 rs755102226	702	G>C		No	ExAC gnomAD ClinGen
rs755102226 CA3729687	702	G>S		No	ClinGen ExAC gnomAD
rs1208303630 CA363468166	703	R>G		No	Ensembl ClinGen
CA363468186 rs1400992747	703	R>Q		No	gnomAD ClinGen
CA363468218 rs1282893706	704	A>G		No	gnomAD ClinGen
CA363468242 rs1321598587	706	R>W		No	TOPMed gnomAD ClinGen
CA136910489 rs990506632	707	R>M		No	Ensembl ClinGen
rs1179338822 CA363468332	708	G>C		No	TOPMed ClinGen
CA3729688 rs746897522	709	L>Q		No	ExAC gnomAD ClinGen
CA136910496 rs867117553	714	T>N		No	Ensembl ClinGen
rs775121469 CA3729693	717	L>V		No	ExAC gnomAD ClinGen
CA363468609 rs1198335310	718	L>F		No	ClinGen gnomAD
rs1266358803 CA363468655	719	C>F		No	gnomAD ClinGen
CA363468688 rs1481191819	720	K>R		No	gnomAD ClinGen
rs1273965128 CA363468719	721	G>D		No	TOPMed ClinGen
rs762491815 CA3729694	722	R>*		No	ExAC gnomAD ClinGen
rs768031925 CA3729696	722	R>P		No	ExAC TOPMed gnomAD ClinGen
CA363468768 rs1319870508	723	V>M		No	TOPMed ClinGen
CA3729699 rs750762742	725	E>K		No	ExAC gnomAD ClinGen
CA363468859 rs1224099604	726	M>I		No	TOPMed ClinGen
rs1352774123 CA363468982	730	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs761104695 CA3729700	731	R>C		No	ExAC TOPMed gnomAD ClinGen
rs372669695 CA3729701	731	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA136910582 rs935211069	732	M>I		No	gnomAD ClinGen
CA3729702 rs754079242	732	M>V		No	ExAC TOPMed gnomAD ClinGen
CA3729703 rs755155484	733	M>K		No	ExAC gnomAD ClinGen
rs971847707 CA136910614	734	M>T		No	TOPMed ClinGen
rs550491499 CA3729714	735	G>E		No	1000Genomes ExAC gnomAD ClinGen
CA363471158 rs1417433653	736	K>R		No	TOPMed ClinGen
rs773847921 CA3729716	737	P>A		No	ExAC gnomAD ClinGen
rs761159898 CA3729717	737	P>L		No	ExAC TOPMed gnomAD ClinGen
CA363471275 rs1183574699	738	S>F		No	gnomAD ClinGen
rs1446826278 CA363471523	743	Q>P		No	gnomAD ClinGen
CA363471556 rs1375496413	744	F>L		No	TOPMed ClinGen
rs1031101294 CA136912320	744	F>Y		No	Ensembl ClinGen
rs759867866 CA3729720	745	R>C		No	ExAC TOPMed gnomAD ClinGen
CA3729721 rs765432736	745	R>H		No	ExAC gnomAD ClinGen
rs1460696188 CA363471591	746	L>F		No	ClinGen TOPMed gnomAD
rs752777790 CA3729722	747	T>K		No	ClinGen ExAC gnomAD
CA363471613 rs752777790	747	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA3729723 rs141560712	750	M>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA136912370 rs988732321	753	N>S		No	TOPMed ClinGen
rs372977009 CA3729726	756	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs1294529905 CA363471813	756	R>P		No	gnomAD ClinGen
rs1294529905 CA363471806	756	R>Q		No	gnomAD ClinGen
CA136912380 rs376481016	758	D>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs376481016 CA3729727	758	D>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA363471909 rs1201304212	761	R>G		No	TOPMed ClinGen
CA136912405 rs976024780	763	E>G		No	gnomAD ClinGen
CA363471952 rs1582183063	763	E>K		No	Ensembl ClinGen
VAR_035945 CA3729728 rs557829269 COSM33090	765	M>I	large_intestine a colorectal cancer sample; somatic mutation [Cosmic, UniProt]	No	1000Genomes ExAC gnomAD ClinGen cosmic curated UniProt dbSNP
rs1201157358 CA363472064	766	M>K		No	gnomAD ClinGen
CA363472061 rs1201157358	766	M>T		No	ClinGen gnomAD
CA363472241 rs1229456770	772	E>D		No	TOPMed ClinGen
rs1484496821 CA363472216	772	E>K		No	gnomAD ClinGen
TCGA novel	773	F>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1341083770 CA363472279	774	P>A		No	TOPMed ClinGen
rs778610645 CA3729730	774	P>L		No	ClinGen ExAC gnomAD
CA3729731 rs747674437	776	R>C		No	ExAC TOPMed gnomAD ClinGen
rs771576902 CA363472332	776	R>H		No	ExAC gnomAD ClinGen
rs771576902 CA3729732	776	R>L		No	ExAC gnomAD ClinGen
CA3729733 rs773902859	777	K>N		No	ExAC gnomAD ClinGen
rs747539757 CA3729734	778	D>Y		No	ExAC gnomAD ClinGen
CA3729754 rs143437620	781	A>V		No	ESP ExAC TOPMed gnomAD ClinGen
rs1367777385 CA363472594	784	Q>*		No	TOPMed gnomAD ClinGen
CA363472628 rs1582183590	785	A>T		No	Ensembl ClinGen
CA3729755 rs770174472	787	A>G		No	ClinGen ExAC gnomAD
rs1284583500 CA363472776	792	R>K		No	TOPMed ClinGen
CA136912527 rs905626778	792	R>S		No	TOPMed gnomAD ClinGen
rs775670816 CA3729756	793	L>R		No	ExAC gnomAD ClinGen
CA3729757 rs763270377	794	G>R		No	ExAC gnomAD ClinGen
rs1330521711 CA363472828	795	A>T		No	TOPMed ClinGen
rs774431318 CA3729759	799	P>S		No	ExAC gnomAD ClinGen
rs1446857473 CA363473008	800	D>E		No	TOPMed ClinGen
TCGA novel	800	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1464530598 CA363473025	801	M>T		No	TOPMed ClinGen
CA363473073 rs1478398473	802	T>I		No	gnomAD ClinGen
CA363473204 rs753773712	807	D>H		No	ExAC TOPMed gnomAD ClinGen
CA3729762 rs753773712	807	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3729763 rs759295913	809	P>R		No	ExAC gnomAD ClinGen
CA136912574 rs553731414	810	E>G		No	TOPMed ClinGen
rs765100039 CA3729764	810	E>Q		No	ExAC gnomAD ClinGen
CA3729765 rs141771835	812	Y>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs758126450 CA3729766	813	S>R		No	ExAC gnomAD ClinGen
rs1325122102 CA363473378	813	S>T		No	TOPMed gnomAD ClinGen
rs573416738 CA3729768	814	W>*		No	ExAC TOPMed gnomAD ClinGen
rs148221996 CA3729770	814	W>*	Trichohepatoenteric syndrome 2 (thes2) [Ensembl]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA136912587 rs573416738	814	W>L		No	ExAC TOPMed gnomAD ClinGen
rs573416738 CA363473392	814	W>S		No	ClinGen ExAC TOPMed gnomAD
rs1012422525 CA136912592	815	G>W		No	TOPMed ClinGen
rs768446878	816	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768446878	816	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs770157900 CA363473503	817	E>K		No	ExAC TOPMed gnomAD ClinGen
CA3729773 rs770157900	817	E>Q		No	ExAC TOPMed gnomAD ClinGen
rs373423480 CA3729775	824	M>V		No	ESP ExAC TOPMed gnomAD ClinGen
CA136912622 rs903995100	826	Q>R		No	ClinGen TOPMed
rs767084483 CA3729791	827	R>*		No	ExAC TOPMed gnomAD ClinGen
rs749834562 CA3729792	827	R>Q		No	ExAC gnomAD ClinGen
CA3729793 rs563780071	828	R>C		No	ExAC TOPMed gnomAD ClinGen
rs563780071 CA3729794	828	R>G		No	ExAC TOPMed gnomAD ClinGen
CA3729795 rs774644201	828	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3729774 rs774413193	828	R>P		No	ExAC gnomAD ClinGen
TCGA novel	834	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3729797 rs779159857	835	G>R		No	ExAC TOPMed gnomAD ClinGen
rs1582184393 CA363474527	836	L>P		No	Ensembl ClinGen
CA363474597 rs1165864135	838	S>F		No	gnomAD ClinGen
CA3729799 rs773498365	839	L>*		No	ExAC gnomAD ClinGen
CA363474605 rs772244355	839	L>F		No	ClinGen ExAC TOPMed gnomAD
rs772244355 CA3729800	839	L>V		No	ExAC TOPMed gnomAD ClinGen
CA3729801 rs773348009	843	R>K		No	ExAC gnomAD ClinGen
CA363474809 rs1406035555	843	R>S		No	ClinGen gnomAD
rs1394844050 CA363474817	844	V>L		No	ClinGen gnomAD
TCGA novel	844	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3729802 rs142798666	846	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs1276556328 CA363475105	849	N>K		No	gnomAD ClinGen
rs1219360414 CA363475248	853	H>R		No	gnomAD ClinGen
CA3729807 rs561701823	855	A>E		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3729806 rs762889447	855	A>T		No	ClinGen ExAC gnomAD
CA363475355 rs561701823	855	A>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3729809 rs761560507	856	L>S		No	ExAC gnomAD ClinGen
rs1190689621 CA363475398	857	G>R		No	gnomAD ClinGen
rs1198203242 CA363475492	859	I>M		No	gnomAD ClinGen
rs750003646 CA3729811	859	I>T		No	ExAC gnomAD ClinGen
CA136912797 rs948323615	860	L>P		No	ClinGen TOPMed
rs1426656081 CA363475556	861	Q>*		No	gnomAD ClinGen
rs755572113 CA3729812	861	Q>R		No	ExAC gnomAD ClinGen
CA3729835 rs765832592 COSM1443436 COSM1443435	864	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs760042690 CA3729837	867	T>A		No	ExAC gnomAD ClinGen
CA3729838 rs765676057	867	T>S		No	ExAC gnomAD ClinGen
CA363476130 rs1312268716	869	R>G		No	ClinGen TOPMed
rs1263335183 CA363476143	869	R>K		No	gnomAD ClinGen
CA363476294 rs1489233563	871	F>L		No	ClinGen TOPMed gnomAD
CA363476378 rs373521874	873	T>I		No	TOPMed ClinGen
CA136913056 rs373521874	873	T>S		No	TOPMed ClinGen
rs1249262812 CA363476423	875	V>D		No	ClinGen gnomAD
CA3729840 rs538283459	877	C>G		No	1000Genomes ExAC gnomAD ClinGen
rs1007175851 CA136913063	877	C>Y		No	TOPMed ClinGen
CA3729841 rs139964934	878	D>G		No	ESP ExAC TOPMed gnomAD ClinGen
rs1172798948 CA363476676	882	S>C		No	gnomAD ClinGen
rs1458208592 CA363476693	883	Q>*		No	TOPMed ClinGen
rs1161214877 CA363476833	885	P>L		No	ClinGen TOPMed
rs1367748025 CA363476797	885	P>T		No	TOPMed ClinGen
TCGA novel	886	Q>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363476875 rs3911893	887	D>Y		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3729844 rs757460416	888	R>G		No	ExAC TOPMed gnomAD ClinGen
CA363476985 rs1212216240	890	P>L		No	TOPMed ClinGen
rs779220788 CA3729846	892	T>A		No	ExAC TOPMed gnomAD ClinGen
rs933070814 CA136913100	892	T>I		No	Ensembl ClinGen
CA3729847 rs768770270	895	V>L		No	ExAC gnomAD ClinGen
TCGA novel	897	Y>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1265240918 CA363477351	899	D>G		No	TOPMed ClinGen
rs778987194 CA3729848	901	L>F		No	ExAC gnomAD ClinGen
rs778987194 CA363477433	901	L>V		No	ExAC gnomAD ClinGen
CA363477539 rs1451686682	903	G>A		No	TOPMed gnomAD ClinGen
TCGA novel	903	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363477619 rs1250405540	907	F>S		No	gnomAD ClinGen
CA363477617 rs1245137161	907	F>V		No	gnomAD ClinGen
CA3729851 rs374893285	908	L>P		No	ESP ExAC TOPMed gnomAD ClinGen
rs532394381 CA363477718	909	P>H		No	gnomAD ClinGen
rs532394381 CA136913121	909	P>L		No	gnomAD ClinGen
rs1262780798 CA363477943	911	G>E		No	gnomAD ClinGen
rs148798682 CA3729866	918	V>I		No	ESP ExAC TOPMed gnomAD ClinGen
CA363478318 rs1465297608	922	P>L		No	gnomAD ClinGen
CA3729868 rs772010061	923	G>E		No	ExAC TOPMed gnomAD ClinGen
rs938320636 CA136913222	924	D>A		No	ClinGen TOPMed
CA363478407 rs1233823726	925	M>V		No	ClinGen TOPMed
rs770629609 CA3729871	926	A>T		No	ClinGen ExAC gnomAD
rs776263542 CA3729872	927	A>G		No	ExAC gnomAD ClinGen
CA363478489 rs1401517010	927	A>T		No	gnomAD ClinGen
CA363478556 rs1344394723	929	T>A		No	ClinGen gnomAD
rs759087987 CA3729873	929	T>I		No	ExAC TOPMed gnomAD ClinGen
CA363478600 rs1401599590	930	T>A		No	ClinGen TOPMed
rs1299846293 CA363478622	930	T>I		No	TOPMed gnomAD ClinGen
rs1299846293 CA363478616	930	T>N		No	TOPMed gnomAD ClinGen
CA363478619 rs1299846293	930	T>S		No	TOPMed gnomAD ClinGen
CA3729874 rs572579048	932	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
CA3729876 rs763374184	934	R>P		No	ExAC TOPMed gnomAD ClinGen
CA136913255 rs763374184	934	R>Q		No	ExAC TOPMed gnomAD ClinGen
rs774941528 CA3729875	934	R>W		No	ExAC TOPMed gnomAD ClinGen
rs1429174497 CA363478785	936	N>Y		No	ClinGen TOPMed
CA363478815 rs1176384598	937	G>R		No	gnomAD ClinGen
CA136913295 rs1024998831	940	I>M		No	Ensembl ClinGen
rs774634398 CA3729878	940	I>T		No	ExAC TOPMed gnomAD ClinGen
CA363479056 TCGA novel rs1427225971	944	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD NCI-TCGA ClinGen
RCV001342204 rs151323787 CA3729880	944	F>S		No	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs1290129953 CA363479093	945	S>R		No	gnomAD ClinGen
CA363479388 rs1582186817	953	K>E		No	Ensembl ClinGen
TCGA novel	956	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764745264 CA3729903	957	P>L		No	ExAC gnomAD ClinGen
TCGA novel	958	L>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1449513697 CA363479940	959	A>V		No	gnomAD ClinGen
rs751492583 CA3729906	960	A>S		No	ExAC gnomAD ClinGen
CA3729907 rs757138449	960	A>V		No	ExAC gnomAD ClinGen
rs745603860 CA363479999	961	V>L		No	ExAC TOPMed gnomAD ClinGen
CA3729909 rs745603860	961	V>M		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	962	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3729912 RCV001314280 rs144379005	970	R>C		No	ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA136913475 rs201629282	970	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
CA3729913 rs748786089	972	A>V		No	ClinGen ExAC gnomAD
rs768188649 CA3729914	974	A>P		No	ExAC gnomAD ClinGen
CA363480583 rs1413991692	975	H>P		No	gnomAD ClinGen
CA363480631 rs1240216445	976	P>S		No	TOPMed ClinGen
CA3729917 rs372400541	978	G>R		No	ESP ExAC TOPMed gnomAD ClinGen
CA363480775 rs1440659886	981	T>N		No	TOPMed ClinGen
CA363480815 rs773729244	983	D>H		No	ExAC TOPMed gnomAD ClinGen
CA3729918 rs773729244	983	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs761110835 CA3729919	985	V>I		No	ExAC gnomAD ClinGen
rs771128642 CA3729920	986	N>S		No	ExAC TOPMed gnomAD ClinGen
rs776883412 CA3729921	987	D>H		No	ExAC gnomAD ClinGen
rs1363918365 CA363480917	987	D>V		No	TOPMed ClinGen
rs776883412 CA363480905	987	D>Y		No	ExAC gnomAD ClinGen
TCGA novel	989	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1320076134 CA363481016	990	L>H		No	gnomAD ClinGen
rs150302655 CA3729922	993	M>T		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	997	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	998	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767427027 CA3729926	1001	R>Q		No	ExAC TOPMed gnomAD ClinGen
COSM4153269 CA3729925 rs139956599 COSM4153270	1001	R>W	ovary [Cosmic]	No	1000Genomes ExAC TOPMed gnomAD ClinGen cosmic curated
CA363481458 rs1477316026	1002	A>G		No	TOPMed gnomAD ClinGen
CA363481476 rs1477316026	1002	A>V		No	ClinGen TOPMed gnomAD
COSM3410961 rs755869572 CA3729928 COSM3410962	1003	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs772944763 CA3729927	1003	R>W		No	ExAC TOPMed gnomAD ClinGen
rs754542830 CA3729931	1006	E>A		No	ClinGen ExAC TOPMed gnomAD
rs550164903 CA3729932	1007	E>*		No	1000Genomes ExAC gnomAD ClinGen
CA3729933 rs571690158	1007	E>V		No	1000Genomes ExAC gnomAD ClinGen
rs959938764 CA136913544	1009	I>V		No	TOPMed ClinGen
CA3729934 rs772765651	1012	A>P		No	ExAC gnomAD ClinGen
CA3729935 rs772765651	1012	A>T		No	ExAC gnomAD ClinGen
rs747419368 CA3729936	1012	A>V		No	ExAC gnomAD ClinGen
CA363481896 rs1276536384	1013	Q>*		No	gnomAD ClinGen
CA3729937 rs771306878	1014	C>Y		No	ExAC TOPMed gnomAD ClinGen
CA363481976 rs1370321540	1015	V>G		No	TOPMed ClinGen
CA363481958 rs1274202417	1015	V>I		No	gnomAD ClinGen
CA363481996 rs1342734028	1016	H>Q		No	gnomAD ClinGen
CA136913579 rs762766204	1019	R>C		No	TOPMed gnomAD ClinGen
CA363482069 rs762766204	1019	R>G		No	TOPMed gnomAD ClinGen
TCGA novel	1019	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1019	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1019887424 CA136913584	1021	P>S		No	TOPMed gnomAD ClinGen
rs112151489 CA3729969	1025	L>M		No	ClinGen ExAC TOPMed gnomAD
rs920338145 CA136913761	1028	R>Q		No	Ensembl ClinGen
CA3729971 rs750969597	1028	R>W		No	ClinGen ExAC TOPMed gnomAD
RCV000497806 rs781544014 CA3729973	1030	R>*		No	ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
rs545274656 CA363482474	1030	R>P		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs545274656 CA3729974	1030	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA363485430 rs1420048168	1036	E>D		No	gnomAD ClinGen
rs201839019 CA3729976	1039	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA136913788 rs753813826	1039	R>W		No	gnomAD ClinGen
CA363485505 rs1459531634	1040	L>V		No	gnomAD ClinGen
CA3729977 rs143205619	1041	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA363485528 rs768797469	1041	R>H	Variant assessed as Somatic; 0.0001388 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs768797469 CA3729978	1041	R>P		No	ExAC gnomAD ClinGen
rs1464045836 CA363485553	1042	F>S		No	gnomAD ClinGen
rs200271795 CA3729981	1045	S>*		No	ESP ExAC TOPMed gnomAD ClinGen
rs200271795 CA136913850	1045	S>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs200271795 CA363485616	1045	S>W		No	ESP ExAC TOPMed gnomAD ClinGen
rs1230250546 CA363485741	1052	L>F		No	TOPMed ClinGen
CA3729982 rs770969965	1053	P>S		No	ExAC gnomAD ClinGen
rs1277070375 CA363485797	1054	E>G		No	gnomAD ClinGen
TCGA novel	1056	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759428204 CA3729984	1058	R>*		No	ClinGen ExAC gnomAD
rs527478841 CA3729985	1058	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363486413 rs142829063	1063	R>P		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3730002 rs142829063	1063	R>Q		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1480474662 CA363486421	1064	T>S		No	TOPMed ClinGen
CA363486588 rs1360396234	1068	V>A		No	TOPMed ClinGen
CA3730004 rs745824845	1068	V>M		No	ClinGen ExAC TOPMed gnomAD
rs12662961 CA363486644	1069	D>E		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3730005 rs769789895	1069	D>G		No	ExAC gnomAD ClinGen
CA3730007 rs141869095	1070	E>K		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs1173849706 CA363486743	1071	A>P		No	ClinGen gnomAD
rs747485797 CA136913999	1078	G>A		No	TOPMed gnomAD ClinGen
rs1288985145 CA363487073	1079	R>L		No	gnomAD ClinGen
CA136914001 rs534298987	1079	R>W		No	ClinGen TOPMed gnomAD
rs749876894 CA3730012	1080	V>G		No	ExAC gnomAD ClinGen
rs1386766251 CA363487156	1081	A>G		No	gnomAD ClinGen
CA3730013 rs761181075	1083	A>P		No	ClinGen ExAC gnomAD
rs58092713 CA3730015 RCV001297112	1084	M>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen ClinVar dbSNP
CA3730014 rs766854756	1084	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3730016 rs755307500	1085	S>N		No	ClinGen ExAC gnomAD
rs938088742 CA136914015	1087	H>P		No	TOPMed ClinGen
CA3730017 rs779247697	1088	E>*		No	ExAC gnomAD ClinGen
CA136914020 rs149771084	1089	L>W		No	ESP TOPMed ClinGen
CA363487619 rs1242831609	1090	L>F		No	gnomAD ClinGen
CA363487620 rs1186488558	1090	L>H		No	gnomAD ClinGen
rs752888146 CA3730018	1091	L>F		No	ClinGen ExAC TOPMed gnomAD
CA3730019 rs758606821	1095	M>V		No	ExAC TOPMed gnomAD ClinGen
rs777719969 CA3730020	1097	D>N		No	ExAC gnomAD ClinGen
CA363488221 rs1378218020	1101	S>N		No	ClinGen gnomAD
rs1157790575 CA363488201	1101	S>R		No	gnomAD ClinGen
CA3730022 rs554711461	1103	L>V		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3730024 rs749143182	1104	R>Q		No	ExAC gnomAD ClinGen
CA363488378 rs1324493996	1105	P>L		No	gnomAD ClinGen
CA3730025 rs768592793	1106	E>Q		No	ExAC TOPMed gnomAD ClinGen
CA3730027 rs761372198	1108	I>T		No	ExAC gnomAD ClinGen
rs200525706 CA3730028	1110	A>P		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363488556 rs200525706	1110	A>T		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3730030 rs760177303	1116	V>I		No	ExAC gnomAD ClinGen
rs759991280 CA3730033	1117	C>S		No	ExAC gnomAD ClinGen
rs753039579 CA3730035	1123	A>T		No	ExAC TOPMed gnomAD ClinGen
rs949861029 CA136914131	1124	G>R		No	TOPMed ClinGen
rs764365137 CA3730037	1133	Q>E		No	ExAC gnomAD ClinGen
rs765717865 CA3730053	1135	I>K		No	ExAC TOPMed gnomAD ClinGen
CA363489447 rs765717865	1135	I>T		No	ExAC TOPMed gnomAD ClinGen
rs775777502 CA3730054	1136	E>G		No	ExAC gnomAD ClinGen
CA3730057 rs764271478	1137	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3730056 rs764271478	1137	R>L		No	ExAC TOPMed gnomAD ClinGen
CA363489523 rs1373847630	1139	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
rs567780944 CA3730058	1139	R>W		No	ExAC TOPMed gnomAD ClinGen
CA363489591 rs1298103889	1143	K>R		No	gnomAD ClinGen
rs754925913 CA3730061 COSM1077756 COSM1077755	1144	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
CA363489697 rs1440477893	1148	V>D		No	gnomAD ClinGen
CA136914408 rs1024005534	1149	Q>H		No	gnomAD ClinGen
rs1257706988 CA363489745	1150	V>M		No	gnomAD ClinGen
CA363489789 rs1487690115	1152	C>G		No	gnomAD ClinGen
rs1190828809 CA363489791	1152	C>S		No	gnomAD ClinGen
VAR_060381 rs2734329 CA136914438	1153	G>R		No	Ensembl ClinGen UniProt dbSNP
rs1445290831 CA363489841	1155	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA363489850 rs1245059852	1156	Q>K		No	TOPMed ClinGen
CA363489858 rs747936095	1156	Q>R		No	ExAC TOPMed gnomAD ClinGen
COSM3410963 rs201764098 CA3730065 COSM3410964 RCV000731498	1157	T>M	central_nervous_system [Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated ClinVar dbSNP
CA363489874 rs1433178825	1158	V>M		No	gnomAD ClinGen
CA3730068 rs770504813	1159	E>A		No	ExAC gnomAD ClinGen
CA3730070 rs139750092	1161	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3730071 rs770272489	1162	V>A		No	ExAC TOPMed gnomAD ClinGen
CA363489989 rs770272489	1162	V>G		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	1163	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1164	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363490153 rs1582191455	1169	L>P		No	ClinGen Ensembl
CA3730074 rs764549241	1170	V>I		No	ExAC gnomAD ClinGen
TCGA novel	1172	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA363490220 rs1236156271	1172	V>I		No	ClinGen gnomAD
TCGA novel	1174	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772678931 CA3730075	1174	Y>H		No	ExAC TOPMed gnomAD ClinGen
CA363490376 rs1213979152	1177	A>G		No	ClinGen TOPMed gnomAD
CA3730076 rs762135217	1178	R>P		No	ExAC gnomAD ClinGen
CA363490396 rs762135217	1178	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
COSM741818 CA363490389 rs1263295962	1178	R>W	lung [Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated
CA363490599 rs749805656	1181	P>A		No	ExAC gnomAD ClinGen
rs749805656 CA3730090	1181	P>S		No	ClinGen ExAC gnomAD
rs1208679086 CA363490694	1184	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs769228093 CA3730091	1186	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1467561583 CA363490794	1187	G>R		No	gnomAD ClinGen
rs1426129992 CA363491086	1194	G>S		No	gnomAD ClinGen
rs1292115833 CA363491133	1196	V>M		No	ClinGen TOPMed
rs772461288 CA3730094	1197	V>I		No	ExAC gnomAD ClinGen
COSM303209 rs773464401 CA3730095	1198	R>C	central_nervous_system [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA3730096 rs760762616	1198	R>H		No	ExAC gnomAD ClinGen
rs773464401 CA363491170	1198	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3730097 rs766514567	1202	R>C		No	ExAC TOPMed gnomAD ClinGen
CA3730098 rs368453711	1202	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC gnomAD ClinGen NCI-TCGA
rs1463002281 CA363491337	1204	A>T		No	gnomAD ClinGen
CA363491414 rs372110283	1205	E>D		No	ClinGen ESP ExAC gnomAD
rs1562672226 CA363491440	1206	M>I		No	Ensembl ClinGen
rs144418335 CA3730100	1208	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
CA3730102 rs375183559	1208	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ESP ExAC gnomAD ClinGen NCI-TCGA
CA3730101 rs375183559	1208	R>P		No	ESP ExAC gnomAD ClinGen
CA3730103 rs780914425	1210	L>P		No	ExAC TOPMed gnomAD ClinGen
rs780914425 CA136914685	1210	L>Q		No	ExAC TOPMed gnomAD ClinGen
CA136914729 rs890871895	1211	R>P		No	TOPMed gnomAD ClinGen
CA363491627 rs890871895	1211	R>Q		No	TOPMed gnomAD ClinGen
rs750120175 CA3730105	1211	R>W		No	ExAC TOPMed ClinGen
CA363491655 rs1321119182	1212	G>R		No	gnomAD ClinGen
CA363491709 rs1562672447	1214	A>T		No	Ensembl ClinGen
CA3730106 rs755655461	1215	R>C		No	ExAC TOPMed gnomAD ClinGen
rs146598176 CA136914739	1215	R>H		No	ESP TOPMed gnomAD ClinGen
rs1015744027 CA136914744	1216	L>Q		No	ClinGen TOPMed
CA363491838 rs1562672503	1218	G>V		No	Ensembl ClinGen
CA363491850 rs1336293564	1219	E>Q		No	gnomAD ClinGen
rs779628909 CA3730107	1221	V>M		No	ExAC TOPMed gnomAD ClinGen
rs1480522939 CA363491985	1224	A>V		No	TOPMed gnomAD ClinGen
CA136914775 rs1027850789	1228	T>R		No	ClinGen Ensembl
rs531570604 CA3730110	1229	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	1000Genomes ExAC gnomAD ClinGen NCI-TCGA
CA363492221 rs1415859198	1231	T>A		No	gnomAD ClinGen
CA3730112 rs772589665	1231	T>N		No	ExAC gnomAD ClinGen
rs1165585227 CA363492285	1232	L>F		No	gnomAD ClinGen
rs142540780 CA3730115	1234	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA3730114 rs773412607	1234	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3730116 rs543924059	1235	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA363492344 rs1299713670	1235	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA136914813 rs565424838	1237	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	1237	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA136914816 VAR_060382 rs2746400	1238	V>G		No	Ensembl ClinGen UniProt dbSNP
rs764060843 CA363492477	1240	A>P		No	ClinGen ExAC TOPMed gnomAD
rs764060843 CA3730118	1240	A>S		No	ClinGen ExAC TOPMed gnomAD
CA3730121 rs767302498	1241	A>V		No	ClinGen ExAC gnomAD
CA363492628 rs1303923072	1245	T>N		No	TOPMed ClinGen
CA363492603 rs1253511721	1245	T>P		No	gnomAD ClinGen
rs1303923072 CA363492611	1245	T>S		No	TOPMed ClinGen
CA363492671 rs1582192938	1246	Q>H		No	Ensembl ClinGen

1 associated diseases with Q15477

[MIM: 614602]: Trichohepatoenteric syndrome 2 (THES2)

A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. {ECO:0000269|PubMed:22444670}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A syndrome characterized by intrauterine growth retardation, severe diarrhea in infancy requiring total parenteral nutrition, facial dysmorphism, immunodeficiency, and hair abnormalities, mostly trichorrhexis nodosa. Hepatic involvement contributes to the poor prognosis of affected patients. {ECO:0000269|PubMed:22444670}. Note=The disease is caused by variants affecting the gene represented in this entry.

6 regional properties for Q15477

Type	Name	Position	InterPro Accession
domain	Helicase, C-terminal	585 - 755	IPR001650
domain	DEAD/DEAH box helicase domain	314 - 460	IPR011545
domain	ATP-dependent RNA helicase Ski2/MTR4, C-terminal	1069 - 1245	IPR012961
domain	Helicase superfamily 1/2, ATP-binding domain	307 - 490	IPR014001
domain	rRNA-processing arch domain	763 - 1046	IPR025696
domain	Ski2, N-terminal domain	78 - 199	IPR040801

Functions

		Description
EC Number	3.6.4.13	Acting on ATP; involved in cellular and subcellular movement
Subcellular Localization	Nucleus Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.
Ski complex	A protein complex that regulates RNA degradation by the exosome complex. In Saccharomyces the complex has a heterotetrameric stoichiometry consisting of one copy each of Ski2p and Ski3 and two copies of Ski8p.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
hydrolase activity	Catalysis of the hydrolysis of various bonds, e.g. C-O, C-N, C-C, phosphoric anhydride bonds, etc.
RNA binding	Binding to an RNA molecule or a portion thereof.
RNA helicase activity	Unwinding of an RNA helix, driven by ATP hydrolysis.

2 GO annotations of biological process

Name	Definition
nuclear-transcribed mRNA catabolic process, 3'-5' exonucleolytic nonsense-mediated decay	The chemical reactions and pathways resulting in the breakdown of the nuclear-transcribed mRNA transcript body of an mRNA in which an amino-acid codon has changed to a nonsense codon; occurs when the 3' end is not protected by a 3'-poly(A) tail; degradation proceeds in the 3' to 5' direction.
RNA catabolic process	The chemical reactions and pathways resulting in the breakdown of RNA, ribonucleic acid, one of the two main type of nucleic acid, consisting of a long, unbranched macromolecule formed from ribonucleotides joined in 3',5'-phosphodiester linkage.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P35207	SKI2	Antiviral helicase SKI2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q8IYB8	SUPV3L1	ATP-dependent RNA helicase SUPV3L1, mitochondrial	Homo sapiens (Human)	PR
B9DFG3	ISE2	DExH-box ATP-dependent RNA helicase DExH15 chloroplastic	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MMETERLVLP	PPDPLDLPLR	AVELGCTGHW	ELLNLPGAPE	SSLPHGLPPC	APDLQQEAEQ
70	80	90	100	110	120
LFLSSPAWLP	LHGVEHSARK	WQRKTDPWSL	LAVLGAPVPS	DLQAQRHPTT	GQILGYKEVL
130	140	150	160	170	180
LENTNLSATT	SLSLRRPPGP	ASQSLWGNPT	QYPFWPGGMD	EPTITDLNTR	EEAEEEIDFE
190	200	210	220	230	240
KDLLTIPPGF	KKGMDFAPKD	CPTPAPGLLS	LSCMLEPLDL	GGGDEDENEA	VGQPGGPRGD
250	260	270	280	290	300
TVSASPCSAP	LARASSLEDL	VLKEASTAVS	TPEAPEPPSQ	EQWAIPVDAT	SPVGDFYRLI
310	320	330	340	350	360
PQPAFQWAFE	PDVFQKQAIL	HLERHDSVFV	AAHTSAGKTV	VAEYAIALAQ	KHMTRTIYTS
370	380	390	400	410	420
PIKALSNQKF	RDFRNTFGDV	GLLTGDVQLH	PEASCLIMTT	EILRSMLYSG	SDVIRDLEWV
430	440	450	460	470	480
IFDEVHYIND	VERGVVWEEV	LIMLPDHVSI	ILLSATVPNA	LEFADWIGRL	KRRQIYVIST
490	500	510	520	530	540
VTRPVPLEHY	LFTGNSSKTQ	GELFLLLDSR	GAFHTKGYYA	AVEAKKERMS	KHAQTFGAKQ
550	560	570	580	590	600
PTHQGGPAQD	RGVYLSLLAS	LRTRAQLPVV	VFTFSRGRCD	EQASGLTSLD	LTTSSEKSEI
610	620	630	640	650	660
HLFLQRCLAR	LRGSDRQLPQ	VLHMSELLNR	GLGVHHSGIL	PILKEIVEML	FSRGLVKVLF
670	680	690	700	710	720
ATETFAMGVN	MPARTVVFDS	MRKHDGSTFR	DLLPGEYVQM	AGRAGRRGLD	PTGTVILLCK
730	740	750	760	770	780
GRVPEMADLH	RMMMGKPSQL	QSQFRLTYTM	ILNLLRVDAL	RVEDMMKRSF	SEFPSRKDSK
790	800	810	820	830	840
AHEQALAELT	KRLGALEEPD	MTGQLVDLPE	YYSWGEELTE	TQHMIQRRIM	ESVNGLKSLS
850	860	870	880	890	900
AGRVVVVKNQ	EHHNALGVIL	QVSSNSTSRV	FTTLVLCDKP	LSQDPQDRGP	ATAEVPYPDD
910	920	930	940	950	960
LVGFKLFLPE	GPCDHTVVKL	QPGDMAAITT	KVLRVNGEKI	LEDFSKRQQP	KFKKDPPLAA
970	980	990	1000	1010	1020
VTTAVQELLR	LAQAHPAGPP	TLDPVNDLQL	KDMSVVEGGL	RARKLEELIQ	GAQCVHSPRF
1030	1040	1050	1060	1070	1080
PAQYLKLRER	MQIQKEMERL	RFLLSDQSLL	LLPEYHQRVE	VLRTLGYVDE	AGTVKLAGRV
1090	1100	1110	1120	1130	1140
ACAMSSHELL	LTELMFDNAL	STLRPEEIAA	LLSGLVCQSP	GDAGDQLPNT	LKQGIERVRA
1150	1160	1170	1180	1190	1200
VAKRIGEVQV	ACGLNQTVEE	FVGELNFGLV	EVVYEWARGM	PFSELAGLSG	TPEGLVVRCI
1210	1220	1230	1240
QRLAEMCRSL	RGAARLVGEP	VLGAKMETAA	TLLRRDIVFA	ASLYTQ