AiPD: Autoinhibited Protein Database

O95347

Gene name	SMC2 (CAPE, SMC2L1, PRO0324)
Protein name	Structural maintenance of chromosomes protein 2
Names	SMC protein 2, SMC-2, Chromosome-associated protein E, hCAP-E, XCAP-E homolog
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10592
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

28-97 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

28-97 (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

2 structures for O95347

Entry ID	Method	Resolution	Chain	Position	Source
4U4P	X-ray	189 A	A	476-707	PDB
AF-O95347-F1	Predicted				AlphaFoldDB

841 variants for O95347

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001291258 rs1834436764	921	K>N	Wiedemann-Rautenstrauch-like progeroid syndrome [ClinVar]	Yes	ClinVar dbSNP
rs1482257659 CA374273623	3	I>V		No	ClinGen TOPMed gnomAD
rs1484351079 CA374273645	4	K>R		No	ClinGen gnomAD
CA197296825 rs943691076	5	S>L		No	ClinGen TOPMed
CA5163985 rs772505501	6	I>V		No	ClinGen ExAC TOPMed gnomAD
rs780437577 CA5163986	7	I>L		No	ClinGen ExAC gnomAD
rs768247237 CA5163989	8	L>I		No	ClinGen ExAC TOPMed gnomAD
rs761246411 CA5163990	9	E>G		No	ClinGen ExAC gnomAD
CA197296865 rs375159580	10	G>E		No	ClinGen ESP TOPMed
rs769337879 CA5163991	13	S>F		No	ClinGen ExAC gnomAD
CA374273782 rs1587876282	13	S>P		No	ClinGen Ensembl
CA374273813 rs1388069477	15	A>G		No	ClinGen gnomAD
CA5163992 rs772652461	15	A>S		No	ClinGen ExAC
CA374273842 rs1349170852	17	R>K		No	ClinGen gnomAD
rs762922993 CA5163994	21	N>D		No	ClinGen ExAC TOPMed gnomAD
CA5163995 rs766265764	21	N>S		No	ClinGen ExAC gnomAD
CA5163996 rs751352637	24	D>N		No	ClinGen ExAC gnomAD
rs1329300975 CA374273963	25	P>L		No	ClinGen TOPMed
rs1215455879 CA374273961	25	P>S		No	ClinGen gnomAD
CA374274013 rs1467090794	28	N>S		No	ClinGen TOPMed
rs995331900 CA197296915	30	I>V		No	ClinGen TOPMed
CA5163998 rs148002848	31	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA5163999 rs148002848	31	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA374274240 rs1451109943	40	N>K		No	ClinGen gnomAD
CA5164005 rs747315426	44	S>C		No	ClinGen ExAC gnomAD
rs769012155 CA5164006	45	I>V		No	ClinGen ExAC gnomAD
rs781602877 CA5164007	47	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1054329 CA197297010	48	L>F		No	ClinGen Ensembl
CA374274433 rs1318789046	51	I>L		No	ClinGen gnomAD
TCGA novel	52	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1367549584 CA374274453	52	S>F		No	ClinGen gnomAD
CA5164008 rs199888056	53	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1175018117 CA374274461	53	N>S		No	ClinGen gnomAD
rs181793444 CA5164009	55	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1278480404 CA374274493	56	Q>E		No	ClinGen TOPMed
CA5164027 rs748548699	58	R>Q		No	ClinGen ExAC gnomAD
rs979418822 CA197297647	58	R>W		No	ClinGen Ensembl
CA374274673 rs1472221980	59	A>P		No	ClinGen gnomAD
rs1180158523 CA374274685	59	A>V		No	ClinGen gnomAD
CA374274746 rs1365585818	62	L>F		No	ClinGen gnomAD
CA374274813 rs1379878036	65	L>S		No	ClinGen TOPMed
rs1235078705 CA374274817	66	V>I		No	ClinGen gnomAD
rs777307453 CA5164029	69	N>S		No	ClinGen ExAC gnomAD
CA5164031 rs770346055	73	G>D		No	ClinGen ExAC gnomAD
CA5164032 rs141742964	76	K>N		No	ClinGen ESP ExAC gnomAD
CA5164033 rs745778970	78	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs113600437 CA197297729	79	V>A		No	ClinGen Ensembl
CA5164034 rs772178039	81	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1342421682 CA374275093	82	T>A		No	ClinGen gnomAD
CA374275101 rs1236304618	82	T>S		No	ClinGen gnomAD
CA374275176 rs1202967392	87	D>G		No	ClinGen gnomAD
TCGA novel	87	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374275168 rs1482716825	87	D>Y		No	ClinGen gnomAD
rs773310415 CA5164038	88	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1046241661 CA197297749	88	K>R		No	ClinGen TOPMed gnomAD
rs1198183754 CA374275633	89	K>E		No	ClinGen gnomAD
CA374275647 rs763300920 CA5164039	89	K>N		No	ClinGen ExAC gnomAD
CA5164040 rs766433128	90	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs766433128 CA374275665	90	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA374275681 rs1174709534	91	S>G		No	ClinGen gnomAD
CA5164041 rs751684382	97	V>I		No	ClinGen ExAC gnomAD
TCGA novel	98	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5164042 rs755444333	98	H>R		No	ClinGen ExAC gnomAD
CA374275875 rs1397763158	101	I>L		No	ClinGen gnomAD
rs1458888019 CA374275899	102	T>A		No	ClinGen TOPMed gnomAD
rs768040662 CA5164043	103	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1337044942 CA374276096	108	V>I		No	ClinGen gnomAD
CA5164068 rs778733809	109	I>M		No	ClinGen ExAC TOPMed gnomAD
rs376791512 CA197303775	109	I>T		No	ClinGen ESP TOPMed
rs1214334749 CA374276104	109	I>V		No	ClinGen TOPMed gnomAD
rs79656676 CA197303778	110	G>C		No	ClinGen Ensembl
rs1463708870 CA374276117	111	G>S		No	ClinGen gnomAD
TCGA novel	112	R>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749896885 CA5164069	113	N>S		No	ClinGen ExAC gnomAD
rs779678324 CA5164071	116	L>S		No	ClinGen ExAC gnomAD
rs746903710 CA5164072	123	N>S		No	ClinGen ExAC gnomAD
rs746903710 CA374276273	123	N>T		No	ClinGen ExAC gnomAD
RCV000969897 rs61755310 CA5164073	124	N>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA374276327 rs1210434426	128	Q>P		No	ClinGen TOPMed
rs554183025 CA5164076	131	F>V		No	ClinGen ExAC TOPMed gnomAD
rs774567646 CA5164077	132	C>Y		No	ClinGen ExAC gnomAD
rs1395168256 CA374276378	133	S>C		No	ClinGen gnomAD
CA374276379 rs1395168256	133	S>F		No	ClinGen gnomAD
rs1008551755 CA197303852	140	N>H		No	ClinGen Ensembl
CA5164079 rs772127542	141	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1006087229 CA197303872	142	H>N		No	ClinGen TOPMed gnomAD
rs377071933 CA5164080	146	M>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs777202321 CA5164102	149	R>*		No	ClinGen ExAC TOPMed gnomAD
rs762474355 CA5164103	149	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA374276600 rs1479378211	151	T>I		No	ClinGen TOPMed gnomAD
CA374276597 rs1479378211	151	T>K		No	ClinGen TOPMed gnomAD
rs1462299301 CA374276603	152	K>E		No	ClinGen gnomAD
CA374276626 rs1410418176	153	V>I		No	ClinGen TOPMed
TCGA novel	154	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs948795706 CA197304694	157	K>E		No	ClinGen TOPMed gnomAD
CA374276724 rs1170522452	160	E>Q		No	ClinGen TOPMed
TCGA novel	161	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1363207747 CA374276809	161	I>N		No	ClinGen TOPMed
rs1363207747 CA374276813	161	I>T		No	ClinGen TOPMed
CA374276852 rs1390084155	164	M>I		No	ClinGen TOPMed
rs1229840254 CA374276842	164	M>V		No	ClinGen gnomAD
CA5164124 rs182149326	165	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	166	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs146270183 CA5164125	167	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA374276940 rs1445660905	172	R>G		No	ClinGen Ensembl
rs1037921343 CA197305109	176	Y>*		No	ClinGen Ensembl
CA197305108 rs368900789	176	Y>C		No	ClinGen ESP TOPMed
rs140049238 CA5164128	179	I>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1190851291	179	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373566631 CA5164129	179	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs140049238 CA5164127	179	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5164130 rs764044934	180	A>S		No	ClinGen ExAC gnomAD
TCGA novel	182	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374277013 rs1360162781	182	Q>R		No	ClinGen TOPMed
CA374277030 rs1268755623	184	T>I		No	ClinGen TOPMed gnomAD
rs1268755623 CA374277028	184	T>N		No	ClinGen TOPMed gnomAD
CA374277036 rs1215691385	185	I>K		No	ClinGen gnomAD
CA374277032 rs1564069569	185	I>V		No	ClinGen Ensembl
rs1019395053 CA197305134	186	E>A		No	ClinGen Ensembl
rs1564069590 CA374277038 COSM13928	186	E>K	skin [Cosmic]	No	ClinGen cosmic curated Ensembl
CA5164131 rs753576647	190	A>T		No	ClinGen ExAC TOPMed gnomAD
CA5164132 rs757082503	195	I>M		No	ClinGen ExAC gnomAD
rs778642908 CA5164133	196	K>R		No	ClinGen ExAC gnomAD
rs1274728081 CA374277118	197	T>A		No	ClinGen gnomAD
rs200540431 CA374277119	197	T>K		No	ClinGen ExAC TOPMed gnomAD
CA5164134 COSM1103430 rs200540431 COSM1103431	197	T>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA374277980 rs1333884038	201	E>K		No	ClinGen gnomAD
CA5164157 rs749782940	202	E>K		No	ClinGen ExAC TOPMed gnomAD
rs367818044 CA5164158	205	P>L		No	ClinGen ESP ExAC gnomAD
CA374278065 rs1355581416	206	T>A		No	ClinGen gnomAD
rs1237649413 CA374278078	207	I>F		No	ClinGen TOPMed gnomAD
rs1237649413 CA374278076	207	I>V		No	ClinGen TOPMed gnomAD
rs1352358378 CA374278152	211	K>R		No	ClinGen gnomAD
CA5164185 rs567910817	213	E>G		No	ClinGen ExAC TOPMed gnomAD
CA5164186 COSM1103432 COSM1103433 rs747631183	215	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs143564986 CA5164188	217	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA197307017 rs143564986	217	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5164189 rs763050068	219	E>K		No	ClinGen ExAC TOPMed gnomAD
CA374278744 rs1467319232	220	Y>*		No	ClinGen TOPMed
rs199963799 CA197307039	223	V>I		No	ClinGen Ensembl
CA374278820 rs1442881154	224	M>T		No	ClinGen gnomAD
rs372395337 CA197307045	227	I>M		No	ClinGen Ensembl
CA5164190 rs766262481	227	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1034504889 CA197307054	231	S>G		No	ClinGen Ensembl
CA5164191 rs774329965	231	S>R		No	ClinGen ExAC gnomAD
rs1225165289 CA374279005	232	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA5164192 rs760941119 COSM1459028 COSM1459029	232	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA374279029 rs1340184928	234	Y>C		No	ClinGen gnomAD
CA374279079 rs764245140	236	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	236	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764245140 CA5164194	236	A>V		No	ClinGen ExAC TOPMed gnomAD
CA5164195 rs753899101	237	Y>S		No	ClinGen ExAC gnomAD
rs765428640 CA5164197	238	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	240	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5164198 rs750919073	241	L>V		No	ClinGen ExAC gnomAD
CA197307127 rs993032742	242	A>S		No	ClinGen Ensembl
CA5164199 rs540966382	242	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5164200 rs767457806	243	E>K		No	ClinGen ExAC TOPMed gnomAD
CA5164201 rs201613718	244	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs756988255 CA374279299	245	T>I		No	ClinGen ExAC gnomAD
rs756988255 CA5164202	245	T>N		No	ClinGen ExAC gnomAD
rs1319540048 CA374279339	248	R>C		No	ClinGen TOPMed
rs148946777 CA5164203	248	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA5164204 rs148946777	248	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1222337384 CA374279374	250	A>T		No	ClinGen TOPMed
rs560803104 CA5164205	252	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA5164206 rs772835208	256	M>I		No	ClinGen ExAC TOPMed gnomAD
CA374279525 rs1383972635	256	M>T		No	ClinGen TOPMed gnomAD
CA374279558 rs1320269861	257	Q>R		No	ClinGen gnomAD
rs967317989 CA374279666	262	K>N		No	ClinGen gnomAD
CA5164207 rs749214431	264	Q>R		No	ClinGen ExAC gnomAD
rs1564072726 CA374279776	268	S>F		No	ClinGen Ensembl
rs201081276 COSM3716187 COSM3716186 CA5164209	274	I>M	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC
TCGA novel	274	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771025327 CA5164208	274	I>R		No	ClinGen ExAC gnomAD
CA5164210 rs759417795	275	K>I		No	ClinGen ExAC gnomAD
rs978828938 CA374279916	275	K>N		No	ClinGen Ensembl
CA374279926 rs1207238672	276	A>E		No	ClinGen TOPMed gnomAD
CA5164212 rs764311792	276	A>T		No	ClinGen ExAC gnomAD
rs1207238672 CA374279930	276	A>V		No	ClinGen TOPMed gnomAD
RCV000915474 CA5164214 rs61755103	277	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs750539371 CA5164216	278	N>H		No	ClinGen ExAC TOPMed gnomAD
rs1475862295 CA374279966	279	H>R		No	ClinGen gnomAD
CA5164217 rs758860924	281	I>L		No	ClinGen ExAC gnomAD
CA374280002 rs1362805829	282	E>K		No	ClinGen gnomAD
CA374280019 rs1451414461	283	E>K		No	ClinGen TOPMed gnomAD
CA5164219 rs751860347	287	R>G		No	ClinGen ExAC gnomAD
rs755301933 CA5164220	287	R>I		No	ClinGen ExAC TOPMed gnomAD
rs781668942 CA5164221	287	R>S		No	ClinGen ExAC gnomAD
rs1280492655 CA374280097	288	K>T		No	ClinGen TOPMed gnomAD
rs752276825 CA374280108	289	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5164222 rs752276825	289	D>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	292	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374280778 rs1290950637	294	G>D		No	ClinGen TOPMed
rs369190262 CA5164266	295	I>T		No	ClinGen ESP ExAC gnomAD
rs1305283350 CA374280797	296	L>I		No	ClinGen TOPMed gnomAD
RCV001314913 rs761107909 CA5164267	297	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
rs1258350155 CA374280817	297	R>P		No	ClinGen TOPMed gnomAD
CA374280814 rs1258350155	297	R>Q		No	ClinGen TOPMed gnomAD
rs146955946 CA5164268	298	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs757022801 CA374280859	301	D>G		No	ClinGen ExAC TOPMed gnomAD
rs757022801 CA5164270	301	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1185888119 CA374280865	302	A>G		No	ClinGen gnomAD
rs764814020 CA374280863	302	A>P		No	ClinGen ExAC gnomAD
rs764814020 CA5164271	302	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA374280866 rs1185888119	302	A>V		No	ClinGen gnomAD
rs758216677 CA5164273	303	L>F		No	ClinGen ExAC TOPMed gnomAD
rs1171432338 CA374280876	304	A>G		No	ClinGen gnomAD
CA5164275 rs746713433	306	A>S		No	ClinGen ExAC gnomAD
CA5164276 rs754760774	308	R>Q		No	ClinGen ExAC gnomAD
CA197307682 rs915217294	309	V>F		No	ClinGen TOPMed
rs749487482 CA5164278	311	T>A		No	ClinGen ExAC gnomAD
CA5164279 rs771183137	313	S>C		No	ClinGen ExAC gnomAD
rs771183137 CA374280933	313	S>F		No	ClinGen ExAC gnomAD
rs774373948 CA5164280	314	Q>E		No	ClinGen ExAC gnomAD
CA5164281 rs745974283	315	S>N		No	ClinGen ExAC gnomAD
rs199917130 CA197307755	316	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199917130 CA5164283	316	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs34755397 CA5164284	318	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA374280972 rs1291528879	319	L>R		No	ClinGen gnomAD
rs1172254029 CA374280981	321	K>E		No	ClinGen TOPMed
rs1465706165 CA374280990	322	K>E		No	ClinGen TOPMed
CA5164287 rs138115955 RCV000973434	325	A>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs765008229 CA5164288	326	C>G		No	ClinGen ExAC gnomAD
rs545573886 CA5164289	327	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs1479255559 CA374281038	329	S>G		No	ClinGen TOPMed
rs757927242 CA5164290	329	S>N		No	ClinGen ExAC gnomAD
rs1167400493 CA374281048	330	K>R		No	ClinGen gnomAD
rs180923911 CA5164291 COSM1459037 COSM1459036	331	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs751500565 CA5164292	331	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5164293 rs754955939	333	E>K		No	ClinGen ExAC gnomAD
rs1347523516 CA374281094	334	L>Q		No	ClinGen gnomAD
rs1040907916 CA197307845	338	M>T		No	ClinGen TOPMed
CA374281144 rs1401156819	338	M>V		No	ClinGen gnomAD
CA374281183 rs1312733359	340	E>D		No	ClinGen gnomAD
rs1277576551 CA374283680	341	D>G		No	ClinGen TOPMed
rs933925280 CA197315477	344	T>I		No	ClinGen gnomAD
rs752423202 CA5164315	348	K>R		No	ClinGen ExAC TOPMed gnomAD
rs777489147 CA5164317	351	E>*		No	ClinGen ExAC
TCGA novel	351	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA197315506 rs141160131	352	V>F		No	ClinGen ESP TOPMed gnomAD
rs1292285535 CA374283899	353	K>R		No	ClinGen TOPMed
TCGA novel	354	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1437243775 CA374283933	355	I>L		No	ClinGen TOPMed gnomAD
rs1437243775 CA374283931	355	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	356	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1179965149 CA374283960	357	D>G		No	ClinGen TOPMed gnomAD
rs376093249 CA5164318	359	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs780145094 CA5164320	360	H>Y		No	ClinGen ExAC gnomAD
CA374284021 rs1393873596	361	A>S		No	ClinGen TOPMed gnomAD
rs1393873596 CA374284016	361	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
TCGA novel	364	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747112609 CA5164321	366	S>N		No	ClinGen ExAC gnomAD
TCGA novel	368	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5164322 rs769232155	369	D>V		No	ClinGen ExAC gnomAD
CA5164324 rs564322861	370	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5164325 rs770178646	372	A>V		No	ClinGen ExAC gnomAD
rs762632542 CA5164327	374	A>V		No	ClinGen ExAC gnomAD
CA5164328 rs770521510	376	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	378	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1194128126 CA374284320	379	H>N		No	ClinGen gnomAD
rs868154702 CA197315611	379	H>R		No	ClinGen Ensembl
CA374284354 rs773800424	381	N>I		No	ClinGen ExAC gnomAD
rs773800424 COSM4163173 COSM4163172 CA5164329	381	N>S	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5164330 rs375645056	382	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA374284382 rs1376968987	384	S>A		No	ClinGen gnomAD
rs760655816 CA5164333	385	A>S		No	ClinGen ExAC TOPMed gnomAD
rs760655816 CA5164334	385	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA374284395 rs1200233383	385	A>V		No	ClinGen TOPMed gnomAD
rs753609822 CA5164335	387	L>M		No	ClinGen ExAC gnomAD
CA5164336 rs201880531	388	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201880531 CA374284423	388	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1474818592 CA374284419	388	S>P		No	ClinGen gnomAD
rs780156200 CA5164337	389	S>N		No	ClinGen ExAC gnomAD
TCGA novel	391	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA197315651 rs960881407	392	D>G		No	ClinGen Ensembl
rs755100222 CA5164339	394	A>G		No	ClinGen ExAC TOPMed gnomAD
CA374284515 rs1388345860	396	A>T		No	ClinGen gnomAD
CA197315658 rs367743590	396	A>V		No	ClinGen TOPMed
rs781477090 CA197315682	398	L>F		No	ClinGen ExAC TOPMed gnomAD
CA5164340 rs781477090	398	L>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA5164341 rs748641374	399	A>G		No	ClinGen ExAC gnomAD
CA374284560 rs149471302	400	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5164342 rs149471302	400	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs144046688 CA5164343	402	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA374284633 rs1401714427	405	C>W		No	ClinGen TOPMed
CA374284645 rs1189477597	406	K>R		No	ClinGen Ensembl
TCGA novel	407	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749636234 CA5164344	409	I>T		No	ClinGen ExAC TOPMed gnomAD
CA374284720 rs1232935382	412	A>G		No	ClinGen TOPMed gnomAD
CA374284722 rs1232935382	412	A>V		No	ClinGen TOPMed gnomAD
CA5164345 rs770558864	413	Q>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA197315754 rs780008274	415	E>K		No	ClinGen Ensembl
rs1253720492 CA374285425	419	A>T		No	ClinGen gnomAD
CA5164367 rs564129335	424	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1363014864 CA374285485	427	Q>P		No	ClinGen gnomAD
rs745491224 CA5164368	428	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs745491224 CA5164369	428	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA5164370 rs531941465	432	N>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5164371 rs746519184	434	Q>R		No	ClinGen ExAC gnomAD
rs776424588 CA5164373	436	E>A		No	ClinGen ExAC gnomAD
CA5164374 rs761864328	439	K>R		No	ClinGen ExAC gnomAD
rs765098627 CA5164375	441	D>N		No	ClinGen ExAC gnomAD
rs773178865 CA5164376	442	S>G		No	ClinGen ExAC gnomAD
rs767873506 CA5164378	444	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA5164377 rs759790525	444	Y>C		No	ClinGen ExAC gnomAD
rs1587937529 CA374285642	445	R>K		No	ClinGen Ensembl
TCGA novel	449	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA197317474 rs375181843	449	E>D		No	ClinGen ESP TOPMed gnomAD
rs372310010 CA374285716	450	A>G		No	ClinGen TOPMed
rs372310010 CA197317492	450	A>V		No	ClinGen TOPMed
CA374285722 rs1489612426	451	L>V		No	ClinGen TOPMed gnomAD
rs756153101 CA5164380	453	A>T		No	ClinGen ExAC gnomAD
rs764293352 CA5164381	454	V>I		No	ClinGen ExAC TOPMed gnomAD
CA197317495 rs868200088	457	L>I		No	ClinGen Ensembl
CA374285811 rs1173473656	457	L>P		No	ClinGen TOPMed
CA5164383 rs757824607	458	K>N		No	ClinGen ExAC gnomAD
rs779211029 CA5164384	459	E>G		No	ClinGen ExAC TOPMed gnomAD
CA374285831 rs1380903849	459	E>K		No	ClinGen TOPMed gnomAD
rs746255469 CA5164385	461	L>F		No	ClinGen ExAC TOPMed gnomAD
CA590045979 rs1361002207	461	L>IYD*		No	ClinGen gnomAD
rs757990935 CA5164386	462	E>K		No	ClinGen ExAC gnomAD
CA5164387 rs779689461	464	E>A		No	ClinGen ExAC gnomAD
rs61762664 CA5164388	465	M>I		No	ClinGen ExAC gnomAD
CA374285917 rs1398336625	465	M>T		No	ClinGen gnomAD
CA5164389 rs768034031	467	K>E		No	ClinGen ExAC gnomAD
CA5164390 rs369822773	467	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA5164391 rs748001380	468	L>P		No	ClinGen ExAC gnomAD
rs1233305273 CA374285974	469	N>S		No	ClinGen gnomAD
rs77050953 CA5164393	470	Y>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77050953 CA5164394	470	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5164392 rs769881830	470	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA374286003 rs1200075998	471	E>G		No	ClinGen gnomAD
rs1358385053 CA374286121	475	E>V		No	ClinGen TOPMed
CA374286137 rs1478818737	477	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs749304562 CA5164415	477	S>R		No	ClinGen ExAC TOPMed gnomAD
rs770827404 CA374286148	479	L>V		No	ClinGen ExAC gnomAD
CA5164419 rs768947235	482	R>C		No	ClinGen ExAC TOPMed gnomAD
rs776518199 CA5164421 COSM126323	482	R>H	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5164420 rs776518199	482	R>L		No	ClinGen ExAC TOPMed gnomAD
CA374286175 rs1430648534	483	R>K		No	ClinGen gnomAD
rs148257629 CA5164422	485	L>P		No	ClinGen ESP ExAC gnomAD
TCGA novel	486	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5164423 rs750921145	487	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1401285860 CA374286200	487	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA374286207 rs1413439065	488	D>G		No	ClinGen TOPMed
CA5164424 rs763495522	493	K>E		No	ClinGen ExAC gnomAD
CA374286246 rs1178309380	494	E>Q		No	ClinGen TOPMed
COSM1553794 COSM1553795 CA5164426 rs751981726	496	Y>C	lung Variant assessed as Somatic; 0.0003259 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs780909705 CA5164428	498	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1194473918 CA374286280	499	L>V		No	ClinGen gnomAD
CA374286295 rs1183748760	501	A>G		No	ClinGen gnomAD
CA374286291 rs1471941160	501	A>T		No	ClinGen gnomAD
CA374286307 rs1267738929	503	F>S		No	ClinGen TOPMed
rs376463312 CA5164429	505	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA5164430 rs755680693	505	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1157436912 CA374286331	507	R>*		No	ClinGen gnomAD
rs370550727 CA5164432	507	R>P		No	ClinGen ESP ExAC gnomAD
rs370550727 CA5164431	507	R>Q		No	ClinGen ESP ExAC gnomAD
CA5164434 rs778526245	509	A>T		No	ClinGen ExAC gnomAD
CA5164453 rs565543975	512	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs565543975 CA197320745	512	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1343024569 CA374286497	513	P>A		No	ClinGen gnomAD
rs117674294 CA5164455	514	E>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5164454 rs528014102	514	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA374286518 rs1457471933	515	K>E		No	ClinGen TOPMed gnomAD
CA374286586 rs1196916373	518	N>K		No	ClinGen gnomAD
CA197320748 rs958923640	519	R>K		No	ClinGen Ensembl
CA5164456 rs748334171	520	N>S		No	ClinGen ExAC gnomAD
CA374286624 rs1453757455	521	C>F		No	ClinGen gnomAD
rs1013486610 CA197320754	523	K>T		No	ClinGen Ensembl
TCGA novel	525	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5164457 rs770031875	525	L>H		No	ClinGen ExAC gnomAD
CA5164458 rs201083116	528	S>F		No	ClinGen ExAC gnomAD
rs771273932 CA5164460	530	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1404721944 CA374286781	534	D>H		No	ClinGen TOPMed
rs547023955 CA197320783	535	T>A		No	ClinGen Ensembl
CA5164463 rs767892508	535	T>N		No	ClinGen ExAC gnomAD
rs370728212 CA197320801	536	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs370728212 CA5164464	536	S>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs867308548 CA197320828	537	A>E		No	ClinGen Ensembl
CA5164466 rs763851296	538	T>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	541	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374286881 rs1455326010	542	E>V		No	ClinGen TOPMed
rs753330404 CA5164467	545	A>D		No	ClinGen ExAC gnomAD
CA374286923 rs753330404	545	A>V		No	ClinGen ExAC gnomAD
CA5164469 rs764708428	547	E>G		No	ClinGen ExAC gnomAD
CA5164470 rs750348729	548	R>Q		No	ClinGen ExAC gnomAD
CA197320879 rs1056377483	550	Y>C		No	ClinGen TOPMed gnomAD
CA5164472 rs779787783	550	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs756274323 CA5164474	551	N>S		No	ClinGen ExAC TOPMed gnomAD
rs61755104 CA197320884	552	V>F		No	ClinGen TOPMed
rs61755309 CA5164475	553	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5164476 rs61755309	553	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5164477 rs749789398	556	T>I		No	ClinGen ExAC TOPMed gnomAD
CA374287025 rs1587942209	557	E>D		No	ClinGen Ensembl
rs1428758652 CA374287080	558	V>I		No	ClinGen gnomAD
CA197322239 rs1022801445	560	G>V		No	ClinGen Ensembl
TCGA novel	565	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA197322262 CA374287201 rs374741734	566	R>S		No	ClinGen ESP TOPMed gnomAD
CA197322280 rs905810912	567	G>R		No	ClinGen Ensembl
rs1385676483 CA374287227	568	E>D		No	ClinGen TOPMed gnomAD
rs1359789229	568	E>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs745947609 COSM1624372 CA5164505 COSM1624373	568	E>Q	liver [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA5164506 rs772638726 COSM1103436 COSM1103437	571	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5164507 rs367564983	571	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5164509 rs200921540	572	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1103440 CA197322325 rs905096447 COSM1103441	573	Y>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA5164511 rs761490427	574	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1287544583 CA374287297	574	T>I		No	ClinGen gnomAD
CA5164512 rs761490427	574	T>S		No	ClinGen ExAC TOPMed gnomAD
CA5164513 rs375330343	575	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA374287326 rs1361437208	576	I>M		No	ClinGen gnomAD
CA5164514 rs762377635	577	P>L		No	ClinGen ExAC gnomAD
CA374287352 rs1480051421	579	N>H		No	ClinGen TOPMed
rs759519328 CA5164517	579	N>S		No	ClinGen ExAC gnomAD
TCGA novel	580	K>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767269599 CA5164518	584	R>K		No	ClinGen ExAC gnomAD
rs988464594 CA197322412	584	R>S		No	ClinGen TOPMed gnomAD
rs752456956 CA5164519	585	C>R		No	ClinGen ExAC gnomAD
rs757442132 CA5164520	585	C>S		No	ClinGen ExAC gnomAD
CA374287453 rs1192692708	586	I>V		No	ClinGen TOPMed
rs1465589429 CA374287474	587	A>V		No	ClinGen gnomAD
TCGA novel	589	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5164523 rs373121324	590	T>S		No	ClinGen ESP ExAC
CA374287526 rs780327985	591	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA5164524 rs780327985	591	L>R		No	ClinGen ExAC TOPMed gnomAD
CA374287521 rs1250429411	591	L>V		No	ClinGen TOPMed
CA374287527 rs1453912808	592	R>G		No	ClinGen gnomAD
rs1331119788 CA374287556	593	V>D		No	ClinGen gnomAD
CA5164526 rs747484594	593	V>I		No	ClinGen ExAC
CA5164527 rs376298987	594	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1242985754 CA374287580	595	Q>R		No	ClinGen gnomAD
rs1258112782 CA374287607	597	L>V		No	ClinGen TOPMed
rs748758756 CA5164560	599	G>C		No	ClinGen ExAC TOPMed gnomAD
rs756423115 CA5164561	599	G>V		No	ClinGen ExAC TOPMed gnomAD
rs187855168 CA197323765	601	D>N		No	ClinGen 1000Genomes
rs146281336 CA5164563 CA5164564	602	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1421356520 CA374287840	602	N>S		No	ClinGen TOPMed
CA374287842 rs773792221	603	V>F		No	ClinGen ExAC gnomAD
CA5164565 rs773792221	603	V>I		No	ClinGen ExAC gnomAD
rs773792221 CA374287843	603	V>L		No	ClinGen ExAC gnomAD
rs757537511 CA5164566	604	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1475504948 CA374287863	606	A>G		No	ClinGen Ensembl
CA5164567 rs771678803	606	A>S		No	ClinGen ExAC gnomAD
rs1215027199 CA374287865	607	L>I		No	ClinGen TOPMed
rs1215909680 CA374287883	609	L>F		No	ClinGen gnomAD
rs1587954406 CA374287893	611	E>A		No	ClinGen Ensembl
CA197323842 rs958700363	611	E>D		No	ClinGen TOPMed gnomAD
CA5164570 rs529040950	614	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs776595054 CA5164571	617	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA197323853 rs76421718	619	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5164572 RCV000949539 rs76421718	619	A>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA374287947 rs76421718	619	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143609098 CA5164573	619	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1261373411 CA374287971	622	F>S		No	ClinGen gnomAD
rs1276769616 CA374287976	623	V>L		No	ClinGen TOPMed
rs751626872 CA5164574	626	T>R		No	ClinGen ExAC gnomAD
rs766677630 CA197323880	627	T>A		No	ClinGen Ensembl
TCGA novel	628	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374288031 rs1330642800	631	D>G		No	ClinGen TOPMed
CA5164576 rs767697615	632	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1356124135 CA374288049	633	M>I		No	ClinGen TOPMed
rs753123238 CA5164578	633	M>T		No	ClinGen ExAC gnomAD
rs1366728810 CA374288043	633	M>V		No	ClinGen gnomAD
CA5164579 rs756686738	634	D>H		No	ClinGen ExAC TOPMed gnomAD
rs756686738 CA197323903	634	D>N		No	ClinGen ExAC TOPMed gnomAD
CA5164580 rs777959814	635	N>Y		No	ClinGen ExAC gnomAD
COSM1459045 CA5164581 COSM1459044 rs754224682	636	A>V	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	639	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs139309078 CA5164583	640	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs139309078 CA374288090	640	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs745577163 CA5164584	641	F>L		No	ClinGen ExAC gnomAD
CA5164585 rs771457863	642	D>G		No	ClinGen ExAC TOPMed gnomAD
CA374288113 rs1360050606	643	K>R		No	ClinGen gnomAD
CA374288124 rs746877120	645	I>L		No	ClinGen ExAC TOPMed gnomAD
rs776513663 CA5164589	645	I>M		No	ClinGen ExAC TOPMed gnomAD
CA5164588 rs768657081	645	I>R		No	ClinGen ExAC gnomAD
CA5164587 rs746877120	645	I>V		No	ClinGen ExAC TOPMed gnomAD
CA374288143 rs1437244733	648	R>G		No	ClinGen gnomAD
CA374288156 rs1310755491	650	V>I		No	ClinGen TOPMed
CA374288174 rs1482520681	653	G>R		No	ClinGen gnomAD
CA374288198 rs1439630675	656	V>A		No	ClinGen gnomAD
rs769781627 CA5164591	656	V>M		No	ClinGen ExAC gnomAD
CA374288204 rs1157344662	657	F>C		No	ClinGen gnomAD
rs1004780388 CA197323982	660	H>P		No	ClinGen TOPMed gnomAD
CA374288224 rs1004780388	660	H>R		No	ClinGen TOPMed gnomAD
CA5164593 rs374570493	660	H>Y		No	ClinGen ESP ExAC gnomAD
TCGA novel	662	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs968188553 CA197323990	664	S>N		No	ClinGen Ensembl
rs767283364 CA374288505	668	R>G		No	ClinGen gnomAD
rs779375255 CA197325124	668	R>Q		No	ClinGen gnomAD
CA374288532 rs1244540039	670	Q>R		No	ClinGen gnomAD
rs750817612 CA5164620	671	A>E		No	ClinGen ExAC gnomAD
CA374288568 rs1275787879	673	S>A		No	ClinGen gnomAD
rs888494864 CA197325134	674	I>T		No	ClinGen TOPMed
rs374266125 CA374288630	677	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA374288641 rs1198693178	678	F>C		No	ClinGen gnomAD
CA5164622 rs766064050	679	Q>E		No	ClinGen ExAC gnomAD
rs1479141994 CA374288668	681	L>R		No	ClinGen TOPMed gnomAD
rs754501045 CA5164624	682	K>R		No	ClinGen ExAC TOPMed gnomAD
CA5164625 rs780902402	684	V>I		No	ClinGen ExAC gnomAD
rs748069141 CA5164626	685	Q>E		No	ClinGen ExAC gnomAD
rs536652729 CA197325200	689	R>K		No	ClinGen 1000Genomes
rs368177715 CA5164629	691	K>E		No	ClinGen ESP ExAC gnomAD
TCGA novel	692	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752667607 CA197325208	693	N>D		No	ClinGen Ensembl
rs770697414 CA5164630	693	N>S		No	ClinGen ExAC TOPMed gnomAD
CA374288855 rs145598831	696	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149999543 CA374288859	696	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5164632 rs149999543	696	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1103442 CA5164631 COSM1103443 rs145598831	696	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA5164634 rs776720159	697	A>G		No	ClinGen ExAC gnomAD
CA374288884 rs1349174230	699	E>K		No	ClinGen TOPMed
COSM1314330 rs1340444872 COSM1314331 CA374288903	700	E>K	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs765743184 CA5164636	702	L>S		No	ClinGen ExAC gnomAD
TCGA novel	703	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773378335 CA5164637	703	A>T		No	ClinGen ExAC gnomAD
CA197325278 rs902192890	704	G>S		No	ClinGen TOPMed gnomAD
rs999566005 CA197325290	705	L>P		No	ClinGen gnomAD
TCGA novel	707	N>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5164641 rs751204383	708	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1190531795 CA374289020	708	T>I		No	ClinGen TOPMed gnomAD
CA374289021 rs1190531795	708	T>S		No	ClinGen TOPMed gnomAD
CA5164643 rs754721023	709	A>D		No	ClinGen ExAC gnomAD
CA5164642 rs754721023	709	A>G		No	ClinGen ExAC gnomAD
rs142563992 CA5164671	711	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs755121798 COSM382595 CA5164672 COSM382594	713	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA5164673 rs781384156	713	R>H		No	ClinGen ExAC TOPMed gnomAD
CA5164674 rs201329464	716	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374290178 rs1237461518	717	Q>E		No	ClinGen gnomAD
rs200332660 CA5164675	717	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
rs749766716 CA5164677	719	W>R		No	ClinGen ExAC gnomAD
CA5164678 rs771365550	720	E>*		No	ClinGen ExAC gnomAD
CA374290242 rs771365550	720	E>K		No	ClinGen ExAC gnomAD
TCGA novel	721	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs774719559 CA5164679	727	D>H		No	ClinGen ExAC gnomAD
rs1178333992 CA374290465	733	L>I		No	ClinGen TOPMed
rs1408826835 CA374290477	734	Q>R		No	ClinGen TOPMed gnomAD
CA197327828 rs868030541	736	S>R		No	ClinGen Ensembl
CA5164681 rs772632686	737	S>P		No	ClinGen ExAC gnomAD
CA5164683 rs760442084	738	Y>C		No	ClinGen ExAC gnomAD
rs1308520267 CA374290531	739	H>D		No	ClinGen gnomAD
rs753307179 CA5164685	739	H>R		No	ClinGen ExAC gnomAD
CA374290566 rs1473334121	742	Q>R		No	ClinGen gnomAD
TCGA novel	744	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201775203 CA5164687	751	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA374290669 rs1564103092	751	T>N		No	ClinGen Ensembl
rs1257129093	751	T>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA374290672 rs1564103102	752	I>V		No	ClinGen Ensembl
CA374290687 rs1251365325	753	E>Q		No	ClinGen gnomAD
CA5164719 rs758995648	754	E>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs780507949 CA5164720	759	L>F		No	ClinGen ExAC gnomAD
rs915779719 CA197329166	763	K>E		No	ClinGen TOPMed
CA374291162 rs915779719	763	K>Q		No	ClinGen TOPMed
CA374291204 rs1490519325	767	R>G		No	ClinGen TOPMed gnomAD
TCGA novel	767	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747335066 CA5164721	767	R>K		No	ClinGen ExAC gnomAD
rs533007517 CA5164722	768	K>Q		No	ClinGen ExAC gnomAD
rs1266414745 CA374291225	769	A>T		No	ClinGen TOPMed
rs1587975887 CA374291239	770	E>G		No	ClinGen Ensembl
COSM455078 CA5164723 rs776131090 COSM455079	770	E>K	Variant assessed as Somatic; 4.653e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA5164726 rs144804318	777	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA197329237 rs968544978	778	N>S		No	ClinGen TOPMed gnomAD
rs762832036 CA5164728	782	N>H		No	ClinGen ExAC
rs1386611191 CA374291409	784	E>D		No	ClinGen gnomAD
CA5164730 rs774065596	785	A>G		No	ClinGen ExAC gnomAD
rs147960477 CA5164729	785	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5164732 rs767405439	787	R>G		No	ClinGen ExAC gnomAD
CA197329271 rs924705333	788	E>A		No	ClinGen TOPMed gnomAD
CA5164733 rs376788348	789	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1317051608 CA374291467	791	L>V		No	ClinGen gnomAD
CA374291480 rs1240214574	792	K>T		No	ClinGen TOPMed gnomAD
rs1223290650 CA374291529	796	K>R		No	ClinGen gnomAD
TCGA novel	798	L>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs945417062 CA197329276	798	L>V		No	ClinGen Ensembl
TCGA novel	799	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5164736 rs750542706	799	D>H		No	ClinGen ExAC TOPMed gnomAD
rs1242942485 COSM370960 CA374291579 COSM370961	800	C>F	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1242942485 CA374291575	800	C>Y		No	ClinGen gnomAD
CA374291598 rs1460241113	802	K>E		No	ClinGen gnomAD
rs1425663361 CA374291650	804	K>T		No	ClinGen TOPMed
rs1186006686 CA374291659	805	A>S		No	ClinGen gnomAD
CA374291675 rs1244287418	806	D>G		No	ClinGen gnomAD
CA374291668 rs1356461557	806	D>H		No	ClinGen TOPMed gnomAD
rs925398152 CA197329301	807	A>T		No	ClinGen TOPMed gnomAD
rs1176136072 CA374291716	809	S>N		No	ClinGen TOPMed gnomAD
rs1176136072 CA374291718	809	S>T		No	ClinGen TOPMed gnomAD
rs1405072467 CA374291744	811	K>R		No	ClinGen gnomAD
CA374291754 rs780698253	812	M>K		No	ClinGen ExAC gnomAD
rs780698253 CA5164738	812	M>T		No	ClinGen ExAC gnomAD
TCGA novel	816	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374291826 rs1290940811	816	Q>H		No	ClinGen TOPMed
rs372968302 CA5164740	817	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1343883650 CA374292048	820	E>Q		No	ClinGen gnomAD
CA374292102 rs1284357607	825	E>Q		No	ClinGen gnomAD
rs1432383562 CA374292188	830	K>E		No	ClinGen TOPMed
rs556871194 CA5164762	830	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751982454 CA5164763	832	E>D		No	ClinGen ExAC gnomAD
rs1173908872 CA374292262	834	T>A		No	ClinGen TOPMed
CA374292279 rs1418808103	835	S>Y		No	ClinGen TOPMed
rs781366175 CA5164765	837	K>R		No	ClinGen ExAC TOPMed gnomAD
rs753121778 CA5164766	838	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA374292382 rs1201086379	841	E>D		No	ClinGen gnomAD
CA374292392 rs1587980914	842	A>T		No	ClinGen Ensembl
CA5164768 rs777397842	842	A>V		No	ClinGen ExAC gnomAD
CA5164769 rs749000276	843	V>L		No	ClinGen ExAC gnomAD
rs1421551829 CA374292444	846	A>P		No	ClinGen gnomAD
rs778514799 CA5164771	846	A>V		No	ClinGen ExAC gnomAD
rs200800207 CA197330558	847	I>V		No	ClinGen 1000Genomes
rs369907847 CA5164773	849	S>F		No	ClinGen ESP ExAC gnomAD
rs760538345 CA5164775	850	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA5164776 rs768625468	852	S>C		No	ClinGen ExAC gnomAD
CA374292536 rs768625468	852	S>G		No	ClinGen ExAC gnomAD
CA374292546 rs1225697037	852	S>R		No	ClinGen gnomAD
CA5164778 rs763303418	857	M>I		No	ClinGen ExAC gnomAD
CA374292611 rs1350341000	857	M>T		No	ClinGen TOPMed
CA5164777 rs373788565	857	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA374292640 rs1259327799	858	A>V		No	ClinGen TOPMed
CA374292654 rs1587981216	859	A>G		No	ClinGen Ensembl
rs1587981227 CA374292694	861	V>G		No	ClinGen Ensembl
CA197330612 rs78636739	862	A>G		No	ClinGen Ensembl
COSM3413207 CA197330603 rs867223678 COSM3413208	862	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated Ensembl
rs892727294 CA197331038	866	E>K		No	ClinGen TOPMed
CA5164807 rs11554260	867	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1469608171 CA374293520	871	A>V		No	ClinGen gnomAD
rs1385636562 CA374293594	874	E>V		No	ClinGen gnomAD
rs775956025 CA5164808	875	V>M		No	ClinGen ExAC TOPMed gnomAD
CA374293622 rs1587983145	876	T>I		No	ClinGen Ensembl
CA5164810 rs764390870	878	Q>R		No	ClinGen ExAC gnomAD
rs948684510 CA197331074	880	E>D		No	ClinGen gnomAD
CA5164812 rs756792636	880	E>K		No	ClinGen ExAC gnomAD
CA5164813 rs756792636	880	E>Q		No	ClinGen ExAC gnomAD
TCGA novel	880	E>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374293713 rs1291512075	881	V>G		No	ClinGen TOPMed
CA5164814 rs750097797	881	V>L		No	ClinGen ExAC gnomAD
rs890876303 CA197331079	883	T>I		No	ClinGen TOPMed
rs757900289 CA5164815	885	Q>R		No	ClinGen ExAC gnomAD
rs1260962545 CA374293774	886	D>N		No	ClinGen gnomAD
rs1380136867 CA374293801	887	T>A		No	ClinGen TOPMed
rs1269860088 CA374293812	887	T>I		No	ClinGen TOPMed
CA374293810 rs1269860088	887	T>S		No	ClinGen TOPMed
CA197331097 rs867096425	888	V>I		No	ClinGen Ensembl
rs779467663 CA5164816	889	I>V		No	ClinGen ExAC gnomAD
rs1347327247 CA374293880	891	A>D		No	ClinGen TOPMed
CA5164817 rs746900256	891	A>T		No	ClinGen ExAC gnomAD
rs1564109280 CA374293912	894	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	895	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	895	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1461374127 CA374293981	899	H>Y		No	ClinGen TOPMed
CA374293999 rs1249938288	900	K>E		No	ClinGen gnomAD
CA374294021 rs1392989465	901	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA374294033 rs754989973	902	Q>E		No	ClinGen ExAC gnomAD
rs754989973 CA5164818	902	Q>K		No	ClinGen ExAC gnomAD
CA5164819 rs781080156	904	N>H		No	ClinGen ExAC TOPMed gnomAD
CA5164820 rs201493765	904	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3847229 COSM3847230 rs1480198372 CA374294077	905	D>N	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
COSM1103449 COSM1103448 rs1174732035 CA374294101	906	S>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA5164822 rs774619405	907	Q>L		No	ClinGen ExAC gnomAD
CA374294166 rs1298081261	911	K>R		No	ClinGen gnomAD
CA5164823 rs746125688	913	L>*		No	ClinGen ExAC
rs1309536051 CA374294188	913	L>I		No	ClinGen gnomAD
rs370655070 CA5164824	914	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1184430757 CA374294233	916	N>D		No	ClinGen TOPMed
CA197331139 rs963719576	916	N>K		No	ClinGen TOPMed gnomAD
rs1476238254 CA374294238	916	N>S		No	ClinGen TOPMed
rs1212912967 CA374294249	917	I>V		No	ClinGen TOPMed
rs1281180482 CA374294262	918	S>R		No	ClinGen gnomAD
rs761111335 CA5164826	918	S>R		No	ClinGen ExAC gnomAD
CA5164828 rs764587095	920	H>L		No	ClinGen ExAC gnomAD
CA374294299 rs764587095	920	H>R		No	ClinGen ExAC gnomAD
CA5164830 rs559315136	922	R>Q		No	ClinGen ExAC gnomAD
rs777188494 CA5164829	922	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1564109644 CA374294373	925	E>D		No	ClinGen Ensembl
rs750058411 CA5164832	929	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1587990066 CA374294871	931	V>G		No	ClinGen Ensembl
rs1223645202 CA374294865	931	V>L		No	ClinGen TOPMed
CA5164855 rs751327918	934	M>L		No	ClinGen ExAC TOPMed gnomAD
CA374294892 rs751327918	934	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1288103464 CA374294924	936	K>N		No	ClinGen TOPMed gnomAD
rs1022475090 CA197332349	937	D>H		No	ClinGen TOPMed
rs759108029 CA5164856	937	D>V		No	ClinGen ExAC gnomAD
rs564171583 CA5164857	938	Y>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs564171583 CA5164858	938	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577771068 CA5164861	939	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs777577593 CA5164860	939	D>H		No	ClinGen ExAC gnomAD
rs1292050298 CA374294969	941	I>L		No	ClinGen gnomAD
rs1322561804 CA374294980	942	N>Y		No	ClinGen gnomAD
rs1473065330 CA374295015	945	R>T		No	ClinGen TOPMed
rs1323211062 CA374295024	946	H>P		No	ClinGen TOPMed gnomAD
COSM1292762 CA5164863 rs140696209 COSM1292763	946	H>Y	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA5164865 rs747280786	948	F>C		No	ClinGen ExAC gnomAD
rs747280786 CA5164864	948	F>S		No	ClinGen ExAC gnomAD
rs781278479 CA5164866	949	G>R		No	ClinGen ExAC gnomAD
CA374295061 rs1443259536	950	Q>R		No	ClinGen gnomAD
CA374295073 rs1470363706	951	P>L		No	ClinGen TOPMed
CA5164867 rs539905204	951	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs1195293822 CA374295080	952	N>S		No	ClinGen TOPMed gnomAD
CA374295110 rs1587990467	955	Y>C		No	ClinGen Ensembl
rs1157883800 CA374295108	955	Y>D		No	ClinGen gnomAD
rs1458609166 CA374295118	956	D>H		No	ClinGen gnomAD
CA374295133 rs1587990507	957	F>S		No	ClinGen Ensembl
CA5164870 rs559828856	959	T>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1405282888 CA374295155	959	T>I		No	ClinGen TOPMed gnomAD
rs1405282888 CA374295154	959	T>S		No	ClinGen TOPMed gnomAD
rs1251683890 CA374295174	961	N>S		No	ClinGen TOPMed
CA5164871 rs182733927	962	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774125126 CA5164872	963	K>T		No	ClinGen ExAC gnomAD
CA5164873 rs759303126	966	G>R		No	ClinGen ExAC gnomAD
rs767096568 CA5164874	967	Q>R		No	ClinGen ExAC gnomAD
rs752172644 CA5164875	968	R>G		No	ClinGen ExAC gnomAD
rs1482549596 CA374295286	970	Q>E		No	ClinGen TOPMed
CA5164876 rs145975657	970	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5164877 rs763931950	972	L>S		No	ClinGen ExAC gnomAD
CA5164878 rs753870672	973	Q>K		No	ClinGen ExAC gnomAD
rs372349786 CA5164879	974	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA374295410 rs1409291224	976	K>R		No	ClinGen TOPMed gnomAD
rs765052047 CA5164880	977	E>D		No	ClinGen ExAC gnomAD
rs1240723215 CA374295456	981	R>G		No	ClinGen TOPMed
CA374295464 rs1370971913	981	R>I		No	ClinGen TOPMed gnomAD
CA5164882 rs755211724	984	N>D		No	ClinGen ExAC gnomAD
rs781272229 CA5164883	984	N>S		No	ClinGen ExAC gnomAD
CA374295520 rs1311724244	985	M>V		No	ClinGen TOPMed
CA5164884 rs748183229	988	M>L		No	ClinGen ExAC TOPMed gnomAD
rs748183229 CA374295596	988	M>V		No	ClinGen ExAC TOPMed gnomAD
rs756285638 CA5164885	989	N>S		No	ClinGen ExAC gnomAD
TCGA novel	997	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749859821 CA5164887	997	R>Q		No	ClinGen ExAC gnomAD
CA5164910 rs746227793	999	N>H		No	ClinGen ExAC gnomAD
CA5164911 rs201268937	999	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA374270752 rs1430479168	1002	M>K		No	ClinGen gnomAD
rs1293559509 CA374270776	1005	K>R		No	ClinGen TOPMed
rs1564115938 CA374270784	1006	R>K		No	ClinGen Ensembl
CA5164913 rs746710682	1007	I>T		No	ClinGen ExAC gnomAD
rs4562395 CA197281056 VAR_047489	1009	E>K		No	ClinGen UniProt Ensembl dbSNP
CA5164915 rs776226533	1013	S>C		No	ClinGen ExAC gnomAD
CA374270839 rs1324659078	1014	K>R		No	ClinGen gnomAD
rs765162261 CA5164917	1017	T>K		No	ClinGen ExAC gnomAD
rs1461046825 CA374270862	1018	T>A		No	ClinGen TOPMed
CA5164918 rs773202830	1019	I>V		No	ClinGen ExAC gnomAD
rs368448171 CA5164919	1024	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA374270969 rs1353856808	1033	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA374270992 rs1446180317	1036	K>Q		No	ClinGen gnomAD
CA374272178 rs1564118965	1038	N>S		No	ClinGen Ensembl
CA5164940 rs762988408	1039	K>R		No	ClinGen ExAC gnomAD
rs762988408 CA5164939	1039	K>T		No	ClinGen ExAC gnomAD
rs371859745 CA5164944	1040	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA5164942 rs760754268	1040	D>V		No	ClinGen ExAC gnomAD
rs774227464 CA5164941	1040	D>Y		No	ClinGen ExAC gnomAD
rs761959232 CA5164945	1044	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1046	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200488464 CA5164946	1047	T>A		No	ClinGen ExAC TOPMed gnomAD
rs200488464 CA197282873	1047	T>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1048	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5164948 rs758965994	1050	P>L		No	ClinGen ExAC gnomAD
rs113443856 CA197282887	1051	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA5164949 rs113443856	1051	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA374272379 rs1334176020	1053	N>D		No	ClinGen gnomAD
CA374272386 rs369017202	1053	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369017202 CA5164951	1053	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA374272406 rs1226145038	1055	M>V		No	ClinGen TOPMed gnomAD
rs780811901 CA5164952	1056	L>F		No	ClinGen ExAC gnomAD
rs1329580502 CA374272430	1057	A>P		No	ClinGen gnomAD
CA5164953 rs202147412	1057	A>V		No	ClinGen ExAC TOPMed gnomAD
CA197282927 rs373478734	1058	P>L		No	ClinGen ESP TOPMed
CA374272448 rs372796365	1058	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs372796365 CA5164955	1058	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs749136526 CA5164956	1059	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1482215562 CA374272476	1060	E>D		No	ClinGen gnomAD
rs1588004994 CA374272531	1063	T>A		No	ClinGen Ensembl
rs1328637005 CA374272550	1064	V>I		No	ClinGen TOPMed
CA5164960 rs772039298	1066	D>G		No	ClinGen ExAC gnomAD
CA5164959 rs759373262	1066	D>N		No	ClinGen ExAC TOPMed gnomAD
CA374272681 rs1422291747	1069	E>K		No	ClinGen TOPMed
CA5164961 RCV000959077 rs61741732	1071	K>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs7872034 CA374272852	1074	L>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1075	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374272895 rs1407668934	1076	N>S		No	ClinGen TOPMed gnomAD
rs1407668934 CA374272883	1076	N>T		No	ClinGen TOPMed gnomAD
CA374272945 rs1360242066	1077	T>I		No	ClinGen TOPMed gnomAD
rs913714487 CA197282971	1079	K>Q		No	ClinGen Ensembl
CA197282977 rs982032741	1079	K>T		No	ClinGen TOPMed gnomAD
rs1350957522 CA374273086	1081	N>K		No	ClinGen gnomAD
rs1385998041 CA374273091	1082	L>I		No	ClinGen TOPMed gnomAD
rs1385998041 CA374273092	1082	L>V		No	ClinGen TOPMed gnomAD
rs749774203 CA5164963	1083	T>P		No	ClinGen ExAC TOPMed gnomAD
CA374273320 rs1233835477	1090	R>K		No	ClinGen gnomAD
CA5165008 rs758419284	1091	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1229617285 CA374274080	1094	A>D		No	ClinGen gnomAD
CA374274085 rs1229617285	1094	A>V		No	ClinGen gnomAD
rs1207414603 CA374274259	1101	M>I		No	ClinGen gnomAD
rs1238661949 CA374274399	1108	P>S		No	ClinGen gnomAD
CA5165010 rs142619238	1109	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA5165011 rs768627525	1110	Y>C		No	ClinGen ExAC gnomAD
rs1263718445 CA374274465	1111	I>M		No	ClinGen TOPMed
rs749514735 CA5165013	1119	L>F		No	ClinGen ExAC gnomAD
rs774318098 CA5165015	1121	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1045337612 CA197285944	1122	S>F		No	ClinGen TOPMed
rs1424391981 CA374274660	1123	H>N		No	ClinGen gnomAD
CA374274678 rs1412619292	1123	H>R		No	ClinGen gnomAD
TCGA novel	1127	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1127	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374274864 rs1306376922	1130	M>I		No	ClinGen gnomAD
rs1588015865 CA374274836	1130	M>L		No	ClinGen Ensembl
rs201237445 COSM1226817 COSM1226816 CA197285948	1132	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
COSM3788128 rs772576514 CA5165017 COSM3788129	1132	R>H	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
TCGA novel	1134	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1138	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA374275263 rs564888728	1141	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA374275259 rs564888728	1141	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5165032 rs564888728	1141	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs113637923 CA197286735	1144	S>P		No	ClinGen Ensembl
CA197286744 rs376246589	1147	E>*		No	ClinGen ESP
CA374275365 rs1186785479	1147	E>G		No	ClinGen gnomAD
rs771073402 CA5165035	1151	N>S		No	ClinGen ExAC gnomAD
rs1451125764 CA374275441	1151	N>Y		No	ClinGen TOPMed
CA374275456 rs1405045429	1152	N>D		No	ClinGen TOPMed
CA5165036 rs778988810	1155	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1588018424 CA374275656	1162	V>E		No	ClinGen Ensembl
CA374275767 rs1444433876	1167	T>I		No	ClinGen gnomAD
CA5165038 rs772199439	1168	V>A		No	ClinGen ExAC TOPMed gnomAD
rs371103736 CA5165040	1169	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs769012805 CA5165041	1172	T>I		No	ClinGen ExAC gnomAD
CA374275883 rs1366719618	1173	Q>*		No	ClinGen gnomAD
rs761457668 CA5165043	1175	Q>E		No	ClinGen ExAC gnomAD
CA5165044 rs764792231	1175	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs150649651 CA197286844	1177	G>R		No	ClinGen ESP TOPMed gnomAD
TCGA novel	1178	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5165047 rs766026185	1179	I>M		No	ClinGen ExAC gnomAD
rs762527682 CA5165046	1179	I>N		No	ClinGen ExAC
CA374276072 rs1485593792	1180	S>*		No	ClinGen TOPMed
rs540282391 CA197286937	1182	E>K		No	ClinGen Ensembl
CA374276162 rs1206718212	1185	S>Y		No	ClinGen gnomAD
rs752440345 CA5165051	1188	K>E		No	ClinGen ExAC gnomAD
CA5165052 rs756007314	1190	P>H		No	ClinGen ExAC gnomAD
CA374276239 rs756007314	1190	P>L		No	ClinGen ExAC gnomAD
rs1366951646 CA374276241	1191	K>Q		No	ClinGen gnomAD
rs778992416 CA5165053	1192	G>A		No	ClinGen ExAC gnomAD
CA374276284 rs990552269	1194	H>P		No	ClinGen TOPMed
rs990552269 CA197286984	1194	H>R		No	ClinGen TOPMed
CA374276314 rs1314770342	1196	E>Q		No	ClinGen TOPMed

No associated diseases with O95347

4 regional properties for O95347

Type	Name	Position	InterPro Accession
domain	RecF/RecN/SMC, N-terminal	2 - 671	IPR003395-1
domain	RecF/RecN/SMC, N-terminal	862 - 1163	IPR003395-2
domain	SMCs flexible hinge	520 - 640	IPR010935
domain	Smc2, ATP-binding cassette domain	1 - 172	IPR027120

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm Chromosome	In interphase cells, the majority of the condensin complex is found in the cytoplasm, while a minority of the complex is associated with chromatin A subpopulation of the complex however remains associated with chromosome foci in interphase cells During mitosis, most of the condensin complex is associated with the chromatin At the onset of prophase, the regulatory subunits of the complex are phosphorylated by CDC2, leading to condensin's association with chromosome arms and to chromosome condensation Dissociation from chromosomes is observed in late telophase
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
chromatin	The ordered and organized complex of DNA, protein, and sometimes RNA, that forms the chromosome.
condensed chromosome	A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct structure.
condensed nuclear chromosome	A highly compacted molecule of DNA and associated proteins resulting in a cytologically distinct nuclear chromosome.
condensin complex	A multisubunit protein complex that plays a central role in chromosome condensation in meiosis and mitosis.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
nuclear chromosome	A chromosome that encodes the nuclear genome and is found in the nucleus of a eukaryotic cell during the cell cycle phases when the nucleus is intact.
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.

4 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.
chromatin binding	Binding to chromatin, the network of fibers of DNA, protein, and sometimes RNA, that make up the chromosomes of the eukaryotic nucleus during interphase.
single-stranded DNA binding	Binding to single-stranded DNA.

8 GO annotations of biological process

Name	Definition
cell division	The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells.
kinetochore organization	A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the kinetochore, a multisubunit complex that is located at the centromeric region of DNA and provides an attachment point for the spindle microtubules.
meiotic chromosome condensation	Compaction of chromatin structure prior to meiosis in eukaryotic cells.
meiotic chromosome segregation	The process in which genetic material, in the form of chromosomes, is organized into specific structures and then physically separated and apportioned to two or more sets during M phase of the meiotic cell cycle.
mitotic chromosome condensation	The cell cycle process in which chromatin structure is compacted prior to and during mitosis in eukaryotic cells.
positive regulation of chromosome condensation	Any process that activates or increases the frequency, rate or extent of chromosome condensation.
positive regulation of chromosome segregation	Any process that activates or increases the frequency, rate or extent of chromosome segregation, the process in which genetic material, in the form of chromosomes, is organized and then physically separated and apportioned to two or more sets.
positive regulation of chromosome separation	Any process that activates or increases the frequency, rate or extent of chromosome separation.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MHIKSIILEG	FKSYAQRTEV	NGFDPLFNAI	TGLNGSGKSN	ILDSICFLLG	ISNLSQVRAS
70	80	90	100	110	120
NLQDLVYKNG	QAGITKASVS	ITFDNSDKKQ	SPLGFEVHDE	ITVTRQVVIG	GRNKYLINGV
130	140	150	160	170	180
NANNTRVQDL	FCSVGLNVNN	PHFLIMQGRI	TKVLNMKPPE	ILSMIEEAAG	TRMYEYKKIA
190	200	210	220	230	240
AQKTIEKKEA	KLKEIKTILE	EEITPTIQKL	KEERSSYLEY	QKVMREIEHL	SRLYIAYQFL
250	260	270	280	290	300
LAEDTKVRSA	EELKEMQDKV	IKLQEELSEN	DKKIKALNHE	IEELEKRKDK	ETGGILRSLE
310	320	330	340	350	360
DALAEAQRVN	TKSQSAFDLK	KKNLACEESK	RKELEKNMVE	DSKTLAAKEK	EVKKITDGLH
370	380	390	400	410	420
ALQEASNKDA	EALAAAQQHF	NAVSAGLSSN	EDGAEATLAG	QMMACKNDIS	KAQTEAKQAQ
430	440	450	460	470	480
MKLKHAQQEL	KNKQAEVKKM	DSGYRKDQEA	LEAVKRLKEK	LEAEMKKLNY	EENKEESLLE
490	500	510	520	530	540
KRRQLSRDIG	RLKETYEALL	ARFPNLRFAY	KDPEKNWNRN	CVKGLVASLI	SVKDTSATTA
550	560	570	580	590	600
LELVAGERLY	NVVVDTEVTG	KKLLERGELK	RRYTIIPLNK	ISARCIAPET	LRVAQNLVGP
610	620	630	640	650	660
DNVHVALSLV	EYKPELQKAM	EFVFGTTFVC	DNMDNAKKVA	FDKRIMTRTV	TLGGDVFDPH
670	680	690	700	710	720
GTLSGGARSQ	AASILTKFQE	LKDVQDELRI	KENELRALEE	ELAGLKNTAE	KYRQLKQQWE
730	740	750	760	770	780
MKTEEADLLQ	TKLQQSSYHK	QQEELDALKK	TIEESEETLK	NTKEIQRKAE	EKYEVLENKM
790	800	810	820	830	840
KNAEAERERE	LKDAQKKLDC	AKTKADASSK	KMKEKQQEVE	AITLELEELK	REHTSYKQQL
850	860	870	880	890	900
EAVNEAIKSY	ESQIEVMAAE	VAKNKESVNK	AQEEVTKQKE	VITAQDTVIK	AKYAEVAKHK
910	920	930	940	950	960
EQNNDSQLKI	KELDHNISKH	KREAEDGAAK	VSKMLKDYDW	INAERHLFGQ	PNSAYDFKTN
970	980	990	1000	1010	1020
NPKEAGQRLQ	KLQEMKEKLG	RNVNMRAMNV	LTEAEERYND	LMKKKRIVEN	DKSKILTTIE
1030	1040	1050	1060	1070	1080
DLDQKKNQAL	NIAWQKVNKD	FGSIFSTLLP	GANAMLAPPE	GQTVLDGLEF	KVALGNTWKE
1090	1100	1110	1120	1130	1140
NLTELSGGQR	SLVALSLILS	MLLFKPAPIY	ILDEVDAALD	LSHTQNIGQM	LRTHFTHSQF
1150	1160	1170	1180	1190
IVVSLKEGMF	NNANVLFKTK	FVDGVSTVAR	FTQCQNGKIS	KEAKSKAKPP	KGAHVEV