AiPD: Autoinhibited Protein Database

O94985

Gene name	CLSTN1 (CS1, KIAA0911)
Protein name	Calsyntenin-1
Names	Alcadein-alpha, Alc-alpha, Alzheimer-related cadherin-like protein, Non-classical cadherin XB31alpha
Species	Homo sapiens (Human)
KEGG Pathway	hsa:22883
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

884-981 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

884-981 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for O94985

Entry ID	Method	Resolution	Chain	Position	Source
AF-O94985-F1	Predicted				AlphaFoldDB

797 variants for O94985

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs1222974396 CA338305840	2	L>Q		No	ClinGen TOPMed
rs1341646545 CA338305845	2	L>V		No	ClinGen gnomAD
rs1413087774 CA338305787	7	P>L		No	ClinGen gnomAD
CA338305794 rs1368787777	7	P>S		No	ClinGen Ensembl
CA17827538 rs550528003	8	A>T		No	ClinGen 1000Genomes TOPMed
CA338305752 rs1372493528	11	P>A		No	ClinGen TOPMed gnomAD
rs938030743 CA17827533	11	P>R		No	ClinGen TOPMed
rs1570536982 CA338305740	12	A>P		No	ClinGen Ensembl
rs1352083215 CA338305721	13	A>V		No	ClinGen Ensembl
rs1308654188 CA338305716	14	R>W		No	ClinGen gnomAD
rs1429374940 CA338305696	17	L>V		No	ClinGen TOPMed gnomAD
CA338305635 rs1158173729	25	G>V		No	ClinGen TOPMed
rs1401065770 CA338305602	28	A>T		No	ClinGen TOPMed
rs1557732199 CA338305589	29	A>T		No	ClinGen Ensembl
CA17827530 rs940106219	29	A>V		No	ClinGen TOPMed
CA578792 rs202203353	31	V>A		No	ClinGen ExAC gnomAD
CA578790 rs750754639	32	N>D		No	ClinGen ExAC gnomAD
rs1386679578 CA338300074	34	H>Y		No	ClinGen gnomAD
rs1275002263 CA338300044	36	P>A		No	ClinGen TOPMed
rs751665483 CA578787	36	P>H		No	ClinGen ExAC gnomAD
CA578786 rs764231960	39	E>K		No	ClinGen ExAC gnomAD
CA338299967 rs1452550271	41	T>S		No	ClinGen gnomAD
rs765385691 CA578783	44	G>S		No	ClinGen ExAC gnomAD
rs868693172 CA17793089	44	G>V		No	ClinGen Ensembl
CA17793082 rs970750136	47	T>I		No	ClinGen TOPMed gnomAD
CA578781 rs772938237	49	N>I		No	ClinGen ExAC gnomAD
rs772026402 CA338299851	49	N>K		No	ClinGen ExAC TOPMed gnomAD
CA578779 rs748077184	50	D>N		No	ClinGen ExAC gnomAD
CA578778 rs774302451	51	N>H		No	ClinGen ExAC gnomAD
CA338299824 rs1299037672	51	N>K		No	ClinGen gnomAD
rs1468237630 CA338299827	51	N>T		No	ClinGen TOPMed
CA578777 rs768104036	53	V>A		No	ClinGen ExAC gnomAD
CA338299808 rs1363487449	53	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs990663202 CA17793031	54	L>F		No	ClinGen Ensembl
CA578776 rs748810181	55	L>V		No	ClinGen ExAC TOPMed gnomAD
CA338299764 rs111570799	56	D>E		No	ClinGen gnomAD
rs755786179 CA578774	56	D>N		No	ClinGen ExAC TOPMed gnomAD
rs781456104 CA578772	58	P>A		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	58	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA578771 rs757749011	58	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757749011 CA338299753	58	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA338299754 rs757749011	58	P>R		No	ClinGen ExAC TOPMed gnomAD
rs781456104 CA338299756	58	P>T		No	ClinGen ExAC TOPMed gnomAD
CA338299745 rs1191982401	60	I>F		No	ClinGen gnomAD
rs140488038 CA338299741	60	I>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA578768 rs758488803	61	A>G		No	ClinGen ExAC TOPMed gnomAD
CA338299740 rs1257860388	61	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA17792933 rs758488803	61	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs765484346 CA578766	62	L>M		No	ClinGen ExAC gnomAD
TCGA novel	63	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1366387964 CA338299720	64	K>R		No	ClinGen TOPMed
CA338299703 rs1323092498	66	A>V		No	ClinGen TOPMed
CA578764 rs369969883	67	P>H		No	ClinGen ESP ExAC gnomAD
rs369969883 CA17792879	67	P>L		No	ClinGen ESP ExAC gnomAD
rs1008350318 CA17792871	69	R>Q		No	ClinGen TOPMed gnomAD
RCV000974072 CA578763 rs1129358	70	F>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1342441243 CA338299682	71	A>T		No	ClinGen gnomAD
rs1330029550 CA338329841	72	E>D		No	ClinGen gnomAD
CA578734 rs371133484	73	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA338329817 rs1432026911	74	F>S		No	ClinGen TOPMed
CA338329752 rs1295606017	76	V>L		No	ClinGen Ensembl
rs748627439 CA578732	81	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1301200754 CA338329249	83	E>D		No	ClinGen TOPMed gnomAD
CA17818480 rs903901061	88	K>E		No	ClinGen Ensembl
rs1470611256 CA338328960	91	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338328973 rs1365731833 CA338328968	91	G>R		No	ClinGen TOPMed gnomAD
CA338328920 rs1557700062	92	Q>H		No	ClinGen Ensembl
CA578716 rs199722695	99	V>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338328750 rs1428262898	99	V>M		No	ClinGen gnomAD
rs768526747 CA17818453	100	V>I		No	ClinGen Ensembl
rs1043755996 CA17818445	101	V>G		No	ClinGen TOPMed gnomAD
CA578715 rs773031798	105	T>A		No	ClinGen ExAC TOPMed gnomAD
rs772518007 CA578714	105	T>I		No	ClinGen ExAC gnomAD
CA17818425 rs1035711848	107	E>D		No	ClinGen TOPMed
rs748558238 CA578713	108	G>R		No	ClinGen ExAC TOPMed gnomAD
CA338328521 rs1238291264	109	V>A		No	ClinGen TOPMed gnomAD
rs150592481 CA578711 RCV000898434	109	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs527900694 CA578707	111	R>C		No	ClinGen ExAC TOPMed gnomAD
CA17818356 rs527900694	111	R>G		No	ClinGen ExAC TOPMed gnomAD
COSM1718430 CA578706 rs758125751	111	R>H	NS [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA578705 rs758125751	111	R>L		No	ClinGen ExAC TOPMed gnomAD
CA338328495 rs1342569243	112	S>T		No	ClinGen gnomAD
CA578703 rs765076870	113	K>N		No	ClinGen ExAC gnomAD
rs752606599 CA578704	113	K>R		No	ClinGen ExAC TOPMed
CA17818309 rs775295993	117	D>Y		No	ClinGen Ensembl
rs200072176 CA578701	119	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	120	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA578699 rs200353490	124	Y>*		No	ClinGen 1000Genomes ExAC
CA338328314 rs1373154130	124	Y>C		No	ClinGen gnomAD
rs767280489 CA578697	129	Q>E		No	ClinGen ExAC gnomAD
CA17818269 rs771792328	130	A>T		No	ClinGen Ensembl
CA578696 rs762077534	131	Y>C		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	134	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA578695 rs774835957	137	P>T		No	ClinGen ExAC gnomAD
CA338328124 rs1190350803	138	D>N		No	ClinGen gnomAD
CA338328102 rs1474263329	139	G>V		No	ClinGen gnomAD
CA338328093 rs1423022071	140	T>S		No	ClinGen TOPMed
rs1269318534 CA338328083	141	N>S		No	ClinGen gnomAD
CA338328059 rs1483311509	143	K>R		No	ClinGen gnomAD
TCGA novel	147	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338326790 rs1272192083	148	A>V		No	ClinGen gnomAD
rs766434293 CA578677	151	H>R		No	ClinGen ExAC TOPMed gnomAD
CA17814708 rs1014179276	151	H>Y		No	ClinGen TOPMed
rs755616693 CA578676	153	Q>R		No	ClinGen ExAC gnomAD
CA578673 rs761575947	156	D>G		No	ClinGen ExAC TOPMed gnomAD
CA578674 rs767264166 COSM239350	156	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs767264166 CA338326702	156	D>Y		No	ClinGen ExAC gnomAD
CA578671 rs769322836	157	V>M		No	ClinGen ExAC TOPMed gnomAD
rs372016780 CA17814630	159	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs372016780 CA578669	159	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA17814600 rs113953501	160	Y>C		No	ClinGen TOPMed
CA578667 rs759601198	160	Y>H		No	ClinGen ExAC gnomAD
rs202155496 CA578665	161	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA578664 rs148669446	161	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA338326612 rs1195222600	162	P>L		No	ClinGen gnomAD
rs749102307 CA17814516	163	V>L		No	ClinGen ExAC TOPMed gnomAD
COSM3782503 rs749102307 CA578661	163	V>M	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1801914 CA17814508	168	S>Y		No	ClinGen Ensembl
rs756176905 CA578658	169	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs749929476 CA578657	170	K>E		No	ClinGen ExAC gnomAD
rs199918030 CA578656	171	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs756745445 CA578655	172	T>A		No	ClinGen ExAC TOPMed gnomAD
rs186533239 CA338326482	172	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs186533239 CA578654	172	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA578652 rs763373857	173	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1382854238 CA338326454	175	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs35331030 CA578651	176	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1224744181 CA338326444	176	G>R		No	ClinGen TOPMed
CA17814397 rs900152504	179	Y>C		No	ClinGen TOPMed gnomAD
CA578649 rs760081150	180	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA338326330 rs1452329860	185	V>L		No	ClinGen TOPMed gnomAD
CA338326332 rs1452329860	185	V>M		No	ClinGen TOPMed gnomAD
rs777153994 CA578648	186	E>D		No	ClinGen ExAC gnomAD
CA338326321 rs1394324940	186	E>K		No	ClinGen gnomAD
rs1344767453 CA338326311	187	A>S		No	ClinGen TOPMed
TCGA novel	187	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA578646 rs145314187	188	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776558821 CA17814367	191	D>E		No	ClinGen Ensembl
rs1192983186 CA338326267	191	D>H		No	ClinGen TOPMed
CA338326230 rs1485720686	194	P>A		No	ClinGen gnomAD
rs773419325 CA17814365	195	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs773419325 CA578645	195	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs772246978 CA578644 CA338326196	196	F>L		No	ClinGen ExAC TOPMed gnomAD
rs780043383 CA578642	197	S>I		No	ClinGen ExAC gnomAD
rs780043383 CA578643	197	S>N		No	ClinGen ExAC gnomAD
rs992853015 CA17814352	198	Q>R		No	ClinGen TOPMed gnomAD
rs993041687 CA17814346	199	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA578641 rs769822670	201	S>G		No	ClinGen ExAC gnomAD
CA578639 rs781009622	203	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1570452261 CA338326096	204	I>M		No	ClinGen Ensembl
rs756730315 CA578638	204	I>V		No	ClinGen ExAC TOPMed gnomAD
rs530164655 CA17814313	205	I>V		No	ClinGen TOPMed gnomAD
rs777471267 CA578637	206	T>I		No	ClinGen ExAC gnomAD
CA578636 rs777471267	206	T>S		No	ClinGen ExAC gnomAD
CA338326066 COSM397651 rs1570452246	207	P>L	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
CA338326052 rs140241620 CA338326050	208	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338326063 rs1314646373	208	D>H		No	ClinGen gnomAD
CA578635 rs201695495	208	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577670142 CA17814283	209	V>M		No	ClinGen 1000Genomes gnomAD
rs1370922864 CA338326033	210	P>L		No	ClinGen gnomAD
CA578632 rs759917625	212	T>A		No	ClinGen ExAC gnomAD
rs1557698311 CA338326007	213	V>I		No	ClinGen Ensembl
rs368965847 CA578630	214	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1259052061 CA338325992	214	D>N		No	ClinGen TOPMed gnomAD
rs760806523 CA578629	216	D>E		No	ClinGen ExAC gnomAD
rs985420517 CA17812625	218	Y>F		No	ClinGen TOPMed
rs764413464 CA578606	222	T>I		No	ClinGen ExAC TOPMed gnomAD
CA578605 rs764413464	222	T>K		No	ClinGen ExAC TOPMed gnomAD
rs1441408904 CA338324771	227	Y>C		No	ClinGen TOPMed gnomAD
rs199545035 CA338324751	228	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA gnomAD
rs199545035 CA578603	228	G>W		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA338324611 rs1250951972	231	H>R		No	ClinGen gnomAD
CA578602 rs770873661	232	Q>E		No	ClinGen ExAC gnomAD
rs528895645 CA578600	232	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1202257321 CA338324552	234	K>E		No	ClinGen TOPMed gnomAD
rs771512664 CA578599	234	K>T		No	ClinGen ExAC gnomAD
rs113139409 CA17812566	235	L>P		No	ClinGen Ensembl
rs778535987 CA578596	237	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs754685327 CA578595	240	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA17812552 rs997641390	240	Y>D		No	ClinGen TOPMed gnomAD
rs1570450173 CA338324320	246	R>G		No	ClinGen Ensembl
rs1318843042 CA338324286	248	T>S		No	ClinGen TOPMed
CA338324242 rs1286486327	250	D>G		No	ClinGen TOPMed gnomAD
rs1368640882 CA338324179	253	V>L		No	ClinGen TOPMed
rs1348407475 CA338324135	254	K>N		No	ClinGen TOPMed gnomAD
CA578593 rs780320305	255	I>V		No	ClinGen ExAC gnomAD
CA578591 rs750842415	257	I>F		No	ClinGen ExAC gnomAD
CA338324015 rs1397960645	259	P>S		No	ClinGen TOPMed
CA338324001 rs1435366752	260	T>A		No	ClinGen gnomAD
CA338323933 rs1398454144	264	G>A		No	ClinGen gnomAD
rs1319666461 CA338323937	264	G>R		No	ClinGen gnomAD
rs775304743 CA17812517	265	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs781763162 CA578568	267	G>E		No	ClinGen ExAC gnomAD
CA338323814 rs1438086100	268	W>C		No	ClinGen gnomAD
CA338323791 rs1307912879	269	N>S		No	ClinGen gnomAD
CA578566 rs751661418	272	I>L		No	ClinGen ExAC gnomAD
CA578565 rs375565731	272	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1407591955 CA338323712	273	E>D		No	ClinGen TOPMed
CA338323654 rs1423367408	276	P>L		No	ClinGen TOPMed
CA578563 rs372203726	277	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA338323627 rs1570449829	278	T>P		No	ClinGen Ensembl
CA578560 rs546336550	279	G>D		No	ClinGen 1000Genomes ExAC gnomAD
COSM913619 CA17812181 rs368481775	279	G>S	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP NCI-TCGA
CA578558 rs761776002	280	A>S		No	ClinGen ExAC TOPMed gnomAD
CA338323589 rs761776002	280	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1245004194 CA338323581	280	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA338323561 rs1317462562	281	L>F		No	ClinGen TOPMed
CA578554 rs558535211	283	V>I		No	ClinGen ExAC TOPMed gnomAD
rs746204455 CA578552	287	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1570449734 CA338323456	288	H>P		No	ClinGen Ensembl
rs1570449726 CA338323442	289	L>R		No	ClinGen Ensembl
rs1480817241 CA338323386	294	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA578549 rs747470501	299	V>I		No	ClinGen ExAC gnomAD
CA578548 rs186712596	300	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs950943165 CA17812009	300	Q>R		No	ClinGen Ensembl
CA578547 rs758347592	302	T>I		No	ClinGen ExAC gnomAD
rs1312631914 CA338323266	303	V>A		No	ClinGen gnomAD
CA17811994 rs976236350 CA17811991	303	V>L		No	ClinGen TOPMed
CA338323246 rs1299490360	304	E>V		No	ClinGen TOPMed
CA17811989 rs752892610	305	L>I		No	ClinGen ExAC gnomAD
CA578544 rs755278736	307	T>I		No	ClinGen ExAC TOPMed gnomAD
CA578545 rs778992549	307	T>P		No	ClinGen ExAC gnomAD
rs750184582 CA578543	308	S>R		No	ClinGen ExAC gnomAD
rs200578027 CA578542	309	H>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs757062858 CA578541	310	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1459933010 CA338323123	311	G>E		No	ClinGen gnomAD
rs534268651 CA17811949	313	G>A		No	ClinGen TOPMed
rs534268651 CA17811936	313	G>V		No	ClinGen TOPMed
rs199790550 CA578539	315	D>N		No	ClinGen ExAC gnomAD
CA578538 rs762365313	316	R>G		No	ClinGen ExAC
rs775122160 CA578537	316	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1212792732 CA338322973	319	Y>C		No	ClinGen gnomAD
rs1239059851 CA338322966	320	S>P		No	ClinGen TOPMed
rs1239059851 CA338322967	320	S>T		No	ClinGen TOPMed
rs1457164191 CA338322942	321	E>G		No	ClinGen gnomAD
rs759225595 CA578535	324	L>I		No	ClinGen ExAC gnomAD
CA578534 rs771364918	325	H>Q		No	ClinGen ExAC gnomAD
CA338322880 rs1466726573	325	H>Y		No	ClinGen gnomAD
rs1022677397 CA17811823	326	R>Q		No	ClinGen TOPMed gnomAD
CA578532 rs747382655	326	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1400712399 CA338321970	330	A>T		No	ClinGen TOPMed
CA578505 rs544719240	330	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA578502 rs7550295 VAR_048582	332	A>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA578501 rs141878883	332	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs555700908 CA578499	334	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs555700908 CA338321937	334	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199917305 CA578496	336	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA578497 rs778720820	336	E>K		No	ClinGen ExAC gnomAD
TCGA novel	339	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA578494 rs573501912	341	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA338321873 rs1348218415	342	S>G		No	ClinGen TOPMed gnomAD
rs1348218415 CA338321875	342	S>R		No	ClinGen TOPMed gnomAD
rs1570444219 CA338321867	342	S>R		No	ClinGen Ensembl
rs140324308 COSM109342 CA578491	344	S>F	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA338321826 rs1415513125	346	N>K		No	ClinGen TOPMed gnomAD
rs539478884 CA578489	346	N>T		No	ClinGen 1000Genomes ExAC gnomAD
rs769214503 CA578488	349	M>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA17805662 rs980659551	352	P>S		No	ClinGen TOPMed gnomAD
rs149058241 CA578487	353	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs904951587 CA17805651	354	D>N		No	ClinGen TOPMed
CA578485 rs41300106	355	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338321673 rs1463152478	356	G>S		No	ClinGen gnomAD
rs535575565 CA578484	357	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1421057338 CA338321652	357	H>R		No	ClinGen TOPMed gnomAD
CA338321636 rs1420634872	358	D>G		No	ClinGen gnomAD
rs771834572 CA578482	358	D>N		No	ClinGen ExAC gnomAD
rs757763373 CA578480	360	D>N		No	ClinGen ExAC TOPMed gnomAD
CA338321598 rs1353749991	360	D>V		No	ClinGen TOPMed
CA338321568 rs1331786218	362	V>E		No	ClinGen TOPMed
rs1331786218 CA338321564	362	V>G		No	ClinGen TOPMed
CA338321570 rs572007265 CA578478	362	V>L		No	ClinGen ExAC gnomAD
CA17805614 rs140031896	363	F>L		No	ClinGen ESP
rs779673799 CA578477	364	E>G		No	ClinGen ExAC TOPMed gnomAD
CA338321520 rs1257674369	366	N>D		No	ClinGen gnomAD
CA578476 COSM1492140 rs375488055	366	N>S	kidney liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs767077034 CA578474	367	G>S		No	ClinGen ExAC gnomAD
rs997471779 CA17805588	371	V>M		No	ClinGen Ensembl
rs1175166677 CA338321397	374	P>A		No	ClinGen TOPMed
rs564647610 CA578473	374	P>L		No	ClinGen ExAC TOPMed gnomAD
rs147818557 CA578471	376	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1461504571 CA338321359	377	V>A		No	ClinGen gnomAD
rs553735504 CA578469	377	V>I		No	ClinGen ExAC TOPMed gnomAD
CA578467 rs759541267	378	V>M		No	ClinGen ExAC TOPMed gnomAD
rs267598783 CA17805501	379	S>L		No	ClinGen TOPMed gnomAD
CA578465 rs771118255	380	V>F		No	ClinGen ExAC TOPMed gnomAD
rs1570443961 CA338321319	380	V>G		No	ClinGen Ensembl
CA338321317 rs1438243720	381	S>R		No	ClinGen TOPMed gnomAD
CA338321291 rs1448639727	382	P>R		No	ClinGen TOPMed
CA578464 rs371416743	383	K>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768605004 CA578462	384	E>A		No	ClinGen ExAC TOPMed gnomAD
CA578463 rs778895511	384	E>K		No	ClinGen ExAC TOPMed gnomAD
rs780150429 CA578460	385	P>L		No	ClinGen ExAC TOPMed gnomAD
rs749191900 CA578461	385	P>S		No	ClinGen ExAC gnomAD
CA338321187 rs77609933	388	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA578457 rs780881043	388	I>T		No	ClinGen ExAC TOPMed gnomAD
rs77609933 CA578458	388	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA338321168 rs1441242457	389	S>L		No	ClinGen gnomAD
rs1043627702 CA17805474	390	V>E		No	ClinGen TOPMed gnomAD
CA338321163 rs1320970406	390	V>M		No	ClinGen gnomAD
rs751890819 CA578455	392	M>L		No	ClinGen ExAC TOPMed gnomAD
COSM3978002 rs980320079 CA17805467	396	P>S	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs377706199 CA578453	398	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs377706199 CA578452	398	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA338320909 rs1194673780	399	R>G		No	ClinGen gnomAD
rs1326406289 CA338320880	400	K>E		No	ClinGen TOPMed gnomAD
rs765802465 CA578451	401	K>E		No	ClinGen ExAC TOPMed gnomAD
CA578449 rs372662099	404	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs909340223 CA17805447	405	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs760770785 CA578447	410	K>E		No	ClinGen ExAC TOPMed gnomAD
CA338320569 rs1218756753	411	T>R		No	ClinGen gnomAD
CA338319836 rs1397591676	412	D>G		No	ClinGen gnomAD
rs760825053 CA578429	413	M>I		No	ClinGen ExAC TOPMed gnomAD
rs766323290 CA578430	413	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1450963098 CA338319810	413	M>V		No	ClinGen TOPMed
CA338319756 rs1475462835	414	N>T		No	ClinGen gnomAD
CA338319766 rs1189543532	414	N>Y		No	ClinGen TOPMed gnomAD
CA578427 rs550602731	415	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA578428 rs115074130	415	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA578426 rs762824452	416	H>P		No	ClinGen ExAC gnomAD
CA578425 rs775471152	417	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA578424 rs769739258	418	Y>C		No	ClinGen ExAC gnomAD
rs1378175712 CA338319604	420	L>V		No	ClinGen TOPMed
CA578421 rs373343024	421	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA17805072 rs965666257	422	V>I		No	ClinGen TOPMed
rs369660230 CA17805033 COSM180416	424	G>R	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA
rs1235578523 CA338319498	425	C>F		No	ClinGen gnomAD
rs201253862 CA578417	426	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA578418 rs375187320	426	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	428	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338319422 rs1250763097	429	F>V		No	ClinGen gnomAD
CA578415 rs368470193	432	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs767080492 CA578414	432	R>H		No	ClinGen ExAC TOPMed gnomAD
rs767080492 CA338319358	432	R>L		No	ClinGen ExAC TOPMed gnomAD
CA578413 rs369888064	434	D>G		No	ClinGen ESP ExAC gnomAD
CA578412 rs141634052	435	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA578410 rs767821997	437	E>K		No	ClinGen ExAC TOPMed gnomAD
CA578409 rs762165689	438	E>G		No	ClinGen ExAC gnomAD
TCGA novel	439	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338319286 rs1329615258	439	K>T		No	ClinGen gnomAD
CA338319233 rs1395393883	443	P>R		No	ClinGen gnomAD
CA338319221 rs1292790160	444	A>V		No	ClinGen gnomAD
CA338319198 rs146951714	446	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA578405 rs759387434	449	K>T		No	ClinGen ExAC gnomAD
TCGA novel	453	V>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA338318647 rs1385126137	455	D>G		No	ClinGen TOPMed gnomAD
rs749590800 COSM1185302 CA578378	455	D>N	lung oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA338318637 rs1400473339	456	E>D		No	ClinGen TOPMed gnomAD
CA578376 rs770312182	456	E>K		No	ClinGen ExAC TOPMed gnomAD
CA338318594 rs1362383179	460	H>Y		No	ClinGen gnomAD
rs1570440514 CA338318585	461	Y>N		No	ClinGen Ensembl
CA578373 rs757338951	462	V>A		No	ClinGen ExAC gnomAD
rs531192953 CA578374	462	V>I		No	ClinGen ExAC TOPMed gnomAD
rs777836577 CA578371	464	N>S		No	ClinGen ExAC TOPMed gnomAD
CA578368 rs755918924	466	E>D		No	ClinGen ExAC TOPMed gnomAD
rs750298682 CA578366	468	P>L		No	ClinGen ExAC gnomAD
rs1570440466 CA338318504	468	P>S		No	ClinGen Ensembl
rs761212513 CA578364	470	V>M		No	ClinGen ExAC TOPMed gnomAD
CA17803200 rs373007657	472	L>V		No	ClinGen ESP TOPMed
CA338318473 rs1422573758	473	Y>C		No	ClinGen TOPMed
rs1422573758 CA338318474	473	Y>S		No	ClinGen TOPMed
VAR_039552 rs17853245 CA17803199	474	V>A		No	ClinGen UniProt Ensembl dbSNP
rs149973700 CA17803196	477	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs149973700 CA578362	477	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs149973700 CA338318447	477	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs775303416 CA338318433	479	H>Q		No	ClinGen ExAC TOPMed gnomAD
RCV000925404 CA578359 rs139120667	480	E>K		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA338318422 rs1557693381	481	P>H		No	ClinGen Ensembl
CA338318418 rs1220577812	482	F>L		No	ClinGen TOPMed gnomAD
CA338318407 rs542380649	483	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs542380649 CA578358 COSM415207	483	S>F	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
CA578357 rs777273228	484	V>A		No	ClinGen ExAC gnomAD
rs1296316873 CA338318404	484	V>L		No	ClinGen gnomAD
CA338318384 rs1464177206	487	D>G		No	ClinGen gnomAD
rs140099588 CA578355	487	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA578354 COSM180415 rs375763180	489	P>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA578352 rs748347711	490	L>F		No	ClinGen ExAC gnomAD
rs1038519082 CA17803122	491	H>R		No	ClinGen Ensembl
rs779114616 CA578351	493	S>F		No	ClinGen ExAC gnomAD
CA338318322 rs1443342284	495	I>M		No	ClinGen gnomAD
rs373410826 CA578350	495	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	496	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1259072406 CA338318303	497	T>S		No	ClinGen TOPMed
CA578349 rs750272417	498	Q>H		No	ClinGen ExAC gnomAD
rs1258972576 CA338318274	500	V>A		No	ClinGen gnomAD
rs751480577 CA338318278	500	V>L		No	ClinGen ExAC TOPMed gnomAD
CA578346 rs751480577 COSM3806197	500	V>M	breast [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1403336047 CA338318270	501	V>L		No	ClinGen TOPMed
CA578345 rs763608960	502	G>V		No	ClinGen ExAC gnomAD
rs1316185271 CA338318252	503	A>S		No	ClinGen gnomAD
CA338318232 rs1276220540	504	C>S		No	ClinGen gnomAD
rs1449191921 CA338317399	507	E>V		No	ClinGen gnomAD
CA338317327 rs1374208232	511	V>L		No	ClinGen gnomAD
rs1330043982 CA338317284	513	N>D		No	ClinGen TOPMed gnomAD
CA578318 rs766710441	513	N>S		No	ClinGen ExAC gnomAD
CA338317252 rs1373344334	514	D>N		No	ClinGen TOPMed
rs773767177 CA578316	515	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1180910642 CA338317149	518	E>K		No	ClinGen gnomAD
CA578314 rs374489493	519	P>A		No	ClinGen ESP ExAC gnomAD
CA578313 rs146242353	519	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs146242353 CA17800737	519	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA578311 rs749460579	522	V>G		No	ClinGen ExAC TOPMed gnomAD
rs17853244 CA17800726 VAR_039553	524	S>C		No	ClinGen UniProt Ensembl dbSNP
CA338317016 rs1269375680	524	S>P		No	ClinGen gnomAD
CA338316991 rs1305878640	525	A>S		No	ClinGen gnomAD
rs772014923 CA578287	526	G>D		No	ClinGen ExAC gnomAD
rs902636997 CA17799612	527	G>D		No	ClinGen TOPMed gnomAD
rs1341620862 CA338316270	528	D>N		No	ClinGen gnomAD
CA578285 rs778999869	529	L>P		No	ClinGen ExAC gnomAD
CA17799603 rs373606260	531	M>V		No	ClinGen ESP TOPMed gnomAD
CA338316146 rs1171249549	534	F>C		No	ClinGen TOPMed
rs1171249549 CA338316144	534	F>Y		No	ClinGen TOPMed
CA338316101 COSM1345084 rs1477902252	536	R>*	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs370456121 CA578284	536	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA578283 rs148680047	538	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA338316014 rs1487367439	540	A>S		No	ClinGen TOPMed
rs202090528 CA17799598	540	A>V		No	ClinGen gnomAD
CA338315988 rs1195842206	541	G>A		No	ClinGen gnomAD
CA338315995 rs1424213131	541	G>S		No	ClinGen gnomAD
CA578280 rs750117820	543	T>A		No	ClinGen ExAC TOPMed gnomAD
rs867897873 CA17799582	543	T>I		No	ClinGen Ensembl
rs1210563815 CA338315949	544	L>F		No	ClinGen gnomAD
rs767722800 CA578279	545	R>C		No	ClinGen ExAC TOPMed gnomAD
CA578278 rs757629219	545	R>H		No	ClinGen ExAC TOPMed gnomAD
CA338315930 rs757629219	545	R>L		No	ClinGen ExAC TOPMed gnomAD
COSM122206 CA338315913 rs1202455341	546	S>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
CA578276 CA338315911 rs72633875	547	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759629198 CA338315824	550	A>E		No	ClinGen ExAC TOPMed gnomAD
CA578273 rs147362643	550	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs147362643 CA338315832	550	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs759629198 CA578272	550	A>V		No	ClinGen ExAC TOPMed gnomAD
CA578270 rs771928842	552	K>E		No	ClinGen ExAC gnomAD
rs747910266 CA17799535	553	K>E		No	ClinGen Ensembl
CA578268 rs576095743	556	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1178994332 CA338315543	558	L>M		No	ClinGen TOPMed
rs1570434972 CA338315473	560	T>P		No	ClinGen Ensembl
rs748805500 CA578266	561	C>R		No	ClinGen ExAC gnomAD
rs779387484 CA578265	562	K>R		No	ClinGen ExAC gnomAD
rs538511837 CA17799517	564	G>R		No	ClinGen ExAC gnomAD
rs745451405 CA578263	564	G>V		No	ClinGen ExAC gnomAD
rs538511837 CA578264	564	G>W		No	ClinGen ExAC gnomAD
CA338315369 rs1570434926	566	D>G		No	ClinGen Ensembl
rs1028181393 CA17799507	566	D>N		No	ClinGen TOPMed
CA338315329 rs1570434906	569	V>G		No	ClinGen Ensembl
CA338315335 rs1307377822	569	V>I		No	ClinGen gnomAD
rs201640412 CA578258 COSM279942	571	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs753270557 CA578257	573	S>G		No	ClinGen ExAC gnomAD
CA338315291 rs1447719003	573	S>T		No	ClinGen gnomAD
rs1329350063 CA338315227	576	G>A		No	ClinGen gnomAD
CA578256 rs765173165	576	G>S		No	ClinGen ExAC TOPMed gnomAD
rs780890059 CA578253	577	V>L		No	ClinGen ExAC TOPMed gnomAD
CA578254 rs780890059 COSM122205	577	V>M	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1215228013 CA338315062	579	I>T		No	ClinGen TOPMed
rs758112647 CA578213	580	Q>R		No	ClinGen ExAC gnomAD
CA338315027 rs1241636326	581	A>G		No	ClinGen TOPMed
rs765052589 CA578211	582	H>L		No	ClinGen ExAC TOPMed gnomAD
rs765052589 CA338315022	582	H>P		No	ClinGen ExAC TOPMed gnomAD
CA338315013 rs1359412590	582	H>Q		No	ClinGen gnomAD
CA17799227 rs1002347258	582	H>Y		No	ClinGen TOPMed
VAR_039554 rs17853243 CA17799211	583	P>R		No	ClinGen UniProt Ensembl dbSNP
rs754248703 CA17799217	583	P>S		No	ClinGen Ensembl
CA578208 rs765808624	587	V>I		No	ClinGen ExAC gnomAD
CA578207 rs765808624	587	V>L		No	ClinGen ExAC gnomAD
CA578206 rs760243098	589	T>I		No	ClinGen ExAC gnomAD
CA578204 rs560687258	593	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA578202 rs774733895	594	D>E		No	ClinGen ExAC TOPMed gnomAD
rs748426720 CA578203	594	D>H		No	ClinGen ExAC gnomAD
rs1258041083 CA338314863	595	L>V		No	ClinGen TOPMed gnomAD
CA338314854 rs764464757 CA578200	596	G>R		No	ClinGen ExAC TOPMed gnomAD
rs746005770 CA578197	597	E>D		No	ClinGen ExAC TOPMed gnomAD
CA578198 rs756260826	597	E>G		No	ClinGen ExAC TOPMed gnomAD
COSM1345083 CA338314846 rs1481403093	597	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA578195 rs757540763	599	D>G		No	ClinGen ExAC TOPMed gnomAD
CA338314822 rs1413603130	599	D>H		No	ClinGen TOPMed gnomAD
CA338314820 rs1413603130	599	D>Y		No	ClinGen TOPMed gnomAD
CA578194 rs190578331	602	M>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1557690465 CA338314756	604	H>R		No	ClinGen Ensembl
rs143807802 CA578193	604	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1557690460 CA338314746	605	I>V		No	ClinGen Ensembl
CA578191 rs146784822	606	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA578188 rs772816826	610	S>C		No	ClinGen ExAC gnomAD
rs1394547462 CA338314680	611	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM3356653 CA578187 rs373789499	611	R>W	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1424803630 CA338314652	615	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA578182 rs776131151	617	G>A		No	ClinGen ExAC gnomAD
CA578183 rs149710128	617	G>R		No	ClinGen ESP ExAC gnomAD
CA338314637 rs1398036369	618	I>V		No	ClinGen TOPMed
TCGA novel	619	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs913887224 CA17799066	619	R>H		No	ClinGen TOPMed gnomAD
rs200412650 CA17799057	621	L>I		No	ClinGen Ensembl
CA17799043 rs945728891	622	K>E		No	ClinGen Ensembl
CA338314561 rs1422930899	624	T>S		No	ClinGen TOPMed
CA578180 rs745913768	625	S>G		No	ClinGen ExAC gnomAD
rs1340908576 CA338314521	627	I>M		No	ClinGen TOPMed gnomAD
rs779773162 CA578156	629	C>G		No	ClinGen ExAC gnomAD
CA578157 rs779773162	629	C>R		No	ClinGen ExAC gnomAD
rs755912817 CA578155	629	C>W		No	ClinGen ExAC
rs1224013397 CA338314421	632	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	633	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA578154 rs750303998	634	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA17798734 rs951561476	634	T>P		No	ClinGen TOPMed gnomAD
CA17798729 rs369749745	637	S>L		No	ClinGen TOPMed gnomAD
rs200033935 CA578150	639	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1286269199 CA338314327	639	P>S		No	ClinGen gnomAD
CA578147 rs765639580	640	P>L		No	ClinGen ExAC TOPMed gnomAD
CA578148 rs765639580	640	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA17798708 rs765639580	640	P>R		No	ClinGen ExAC TOPMed gnomAD
CA338314316 rs1276298831	640	P>S		No	ClinGen TOPMed
rs1216273867 CA338314310	641	V>I		No	ClinGen TOPMed
rs377640022 CA578144	645	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA17798685 CA17798680 rs150571457	646	M>I		No	ClinGen ESP gnomAD
rs760775670 CA578143	646	M>V		No	ClinGen ExAC gnomAD
CA578142 rs773233514	647	V>I		No	ClinGen ExAC gnomAD
CA578140 rs748307565	649	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1557690183 CA338314238	649	Q>H		No	ClinGen Ensembl
CA578141 rs748307565	649	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA17798665 rs145838193	650	P>L		No	ClinGen 1000Genomes
CA578139 rs774557268	650	P>T		No	ClinGen ExAC gnomAD
CA578137 rs142701954	651	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1431352136 CA338314206	654	K>N		No	ClinGen gnomAD
CA578136 rs781169892	655	I>M		No	ClinGen ExAC gnomAD
CA578135 rs757184895	656	S>C		No	ClinGen ExAC gnomAD
rs1444876013 CA338314173	659	G>V		No	ClinGen gnomAD
CA578133 rs560870976 COSM1345081	660	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA338314160 rs1325148200	661	H>Q		No	ClinGen gnomAD
CA578132 rs757997283	662	H>N		No	ClinGen ExAC gnomAD
CA10714753 rs1426847807	664	A>S		No	ClinGen TOPMed
CA17798645 rs982931919	665	R>*		No	ClinGen TOPMed
CA578131 rs199654377	665	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1476544726 CA338314128	667	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1341682292 CA338314106	670	F>S		No	ClinGen gnomAD
rs1461554787 CA338314092	672	S>N		No	ClinGen TOPMed
rs142244630 CA578129	672	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs754193154 CA578128	673	S>P		No	ClinGen ExAC gnomAD
CA338314079 rs761036714	674	E>A		No	ClinGen ExAC TOPMed gnomAD
CA578126 rs761036714	674	E>G		No	ClinGen ExAC TOPMed gnomAD
CA578127 rs766796356	674	E>K		No	ClinGen ExAC gnomAD
CA17798587 rs895557375	676	V>L		No	ClinGen Ensembl
CA578124 rs144945908	677	F>L		No	ClinGen ESP ExAC gnomAD
rs774547335 CA578122	680	P>R		No	ClinGen ExAC gnomAD
CA578121 rs768813003	681	E>D		No	ClinGen ExAC gnomAD
CA17798547 rs745647810	683	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM913611 CA578119 rs776252132	683	R>H	kidney large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs745647810 CA578120	683	R>S		No	ClinGen ExAC TOPMed gnomAD
rs777858203 CA17798540	689	T>K		No	ClinGen ExAC TOPMed gnomAD
rs777858203 CA578116	689	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs757968676 CA578115	691	E>K		No	ClinGen ExAC gnomAD
CA338313938 rs1253320519	696	G>E		No	ClinGen gnomAD
CA578111 rs369359240	697	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA578110 rs766593308	698	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1354446719 CA338313917	700	E>Q		No	ClinGen TOPMed
TCGA novel	701	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA578109 rs756502212	702	P>R		No	ClinGen ExAC gnomAD
rs1489760049 CA338313433	705	Q>*		No	ClinGen TOPMed
CA338313414 rs1290507745	706	E>G		No	ClinGen TOPMed
rs1283925666 CA338313419	706	E>Q		No	ClinGen gnomAD
rs1363422279 CA338313407	707	S>P		No	ClinGen gnomAD
CA578082 rs760515594	708	L>R		No	ClinGen ExAC TOPMed gnomAD
CA338313376 rs1373230819	710	S>A		No	ClinGen TOPMed
CA338313377 rs1373230819	710	S>P		No	ClinGen TOPMed
CA578078 rs774347924	711	E>K		No	ClinGen ExAC TOPMed gnomAD
rs370874432 CA578077	713	I>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs139721760 CA578076	713	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA578074 rs144169927	714	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs757633315 CA338313312	715	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA578070 COSM426883 rs201194236	716	D>N	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA578069 rs778410610	718	D>N		No	ClinGen ExAC gnomAD
CA578068 rs758395217	719	T>I		No	ClinGen ExAC gnomAD
CA338313271 rs1267767869	722	V>I		No	ClinGen TOPMed
CA578067 rs539065478	723	T>M		No	ClinGen ExAC gnomAD
rs994607754 CA17797904	723	T>P		No	ClinGen TOPMed
rs148442003 CA578065	724	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA578063 rs767351766	728	E>G		No	ClinGen ExAC gnomAD
CA338313219 rs1363601731	728	E>K		No	ClinGen gnomAD
rs767351766 CA338313213	728	E>V		No	ClinGen ExAC gnomAD
rs1311021040 CA338313176	732	E>K		No	ClinGen TOPMed gnomAD
rs774138520 CA578061	737	E>K		No	ClinGen ExAC gnomAD
rs1043184829 CA17797870	738	V>M		No	ClinGen gnomAD
CA578060 rs764138125	739	D>G		No	ClinGen ExAC gnomAD
rs1429225476 CA338313063	740	M>I		No	ClinGen gnomAD
rs762342887 CA578059	741	A>T		No	ClinGen ExAC gnomAD
CA578058 rs139269753	742	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA578057 rs769318735	742	R>H		No	ClinGen ExAC TOPMed gnomAD
rs745468008 CA578056	745	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA578055 rs776271865	746	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs771283334 CA578054	746	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA338312978 rs1201881943	747	G>S		No	ClinGen gnomAD
rs747464837 CA578053	748	I>V		No	ClinGen ExAC gnomAD
rs1452702018 CA338312937	750	V>M		No	ClinGen TOPMed
CA338312905 rs1255384641	752	S>I		No	ClinGen gnomAD
rs778121632 CA578052	755	L>V		No	ClinGen ExAC
CA338312838 rs1389313985	758	T>I		No	ClinGen TOPMed
rs200387779 CA578051	760	T>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752627658 CA578024	762	V>L		No	ClinGen ExAC TOPMed gnomAD
rs752627658 CA578023	762	V>M		No	ClinGen ExAC TOPMed gnomAD
CA338312786 rs1444248041	763	D>G		No	ClinGen gnomAD
CA578022 rs765217344	763	D>H		No	ClinGen ExAC TOPMed gnomAD
rs753388096 CA338312778	764	T>I		No	ClinGen ExAC TOPMed gnomAD
rs753388096 CA578020	764	T>N		No	ClinGen ExAC TOPMed gnomAD
CA578018 rs760317052	767	S>G		No	ClinGen ExAC TOPMed gnomAD
CA578016 rs772477530	767	S>R		No	ClinGen ExAC TOPMed gnomAD
rs762138596 CA578015	768	Y>H		No	ClinGen ExAC gnomAD
CA578013 rs145174340	769	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1355248018 CA338312742	770	E>K		No	ClinGen gnomAD
rs769780907 CA578010	776	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1405921597 CA338312701	776	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA578008 rs781337343 COSM1345079	778	R>Q	Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA338312683 rs1301679401	778	R>W		No	ClinGen gnomAD
CA17797096 rs868413951	780	W>*		No	ClinGen Ensembl
CA338312663 rs1385969593	780	W>R		No	ClinGen gnomAD
rs1188960507 CA338312643	781	H>R		No	ClinGen TOPMed
rs555571455 CA578007	782	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150414844 CA578006	783	R>G		No	ClinGen ESP ExAC TOPMed
CA578005 rs778793437	784	S>T		No	ClinGen ExAC TOPMed gnomAD
CA578004 rs754859166	784	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA578003 rs151276321	785	L>F		No	ClinGen ESP ExAC gnomAD
rs1212492200 CA338312606	785	L>V		No	ClinGen TOPMed
CA338312568 rs1270731621	788	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs374568789 CA578002	791	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1347999047 CA338312457	797	L>R		No	ClinGen gnomAD
CA338312442 rs1394454074	798	N>K		No	ClinGen TOPMed gnomAD
CA577999 rs141353908	800	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199987563 CA338312429	800	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs199987563 CA577998	800	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1428132669 CA338312424	801	Y>H		No	ClinGen TOPMed
rs1349486575 CA338312413	802	I>L		No	ClinGen Ensembl
CA17797055 rs372309624	802	I>M		No	ClinGen Ensembl
rs1347968294 CA338312407	802	I>N		No	ClinGen TOPMed gnomAD
rs769167202 CA577996 COSM1345078	805	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs776052634 CA577972	810	V>A		No	ClinGen ExAC TOPMed gnomAD
rs763481681 CA577973	810	V>M		No	ClinGen ExAC TOPMed gnomAD
CA577970 rs759632489	811	N>H		No	ClinGen ExAC TOPMed gnomAD
CA577969 rs776534564	811	N>T		No	ClinGen ExAC gnomAD
CA577966 rs773489566	814	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA577964 rs751301278	815	T>M		No	ClinGen ExAC TOPMed gnomAD
CA17793390 rs868100712	816	A>T		No	ClinGen Ensembl
CA577962 rs755962798	818	P>A		No	ClinGen ExAC gnomAD
rs1447153753 CA338311393	819	M>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA338311409 rs1283682956	819	M>V		No	ClinGen gnomAD
CA338311363 rs1398113971	821	H>R		No	ClinGen gnomAD
CA338311354 rs780514489	822	A>S		No	ClinGen ExAC TOPMed gnomAD
CA577960 rs780514489	822	A>T		No	ClinGen ExAC TOPMed gnomAD
CA577959 rs756835009	823	N>S		No	ClinGen ExAC gnomAD
rs373215137 CA577957	825	M>L		No	ClinGen ExAC gnomAD
CA577958 rs373215137	825	M>V		No	ClinGen ExAC gnomAD
CA17793316 rs977988295	827	A>D		No	ClinGen TOPMed
rs758814609 CA577956	827	A>P		No	ClinGen ExAC
rs1163891143 CA338311241	829	P>S		No	ClinGen gnomAD
rs970958348 CA17793307	830	Q>L		No	ClinGen Ensembl
CA577953 rs759913228	832	V>A		No	ClinGen ExAC TOPMed gnomAD
rs765666780 CA577954	832	V>M		No	ClinGen ExAC TOPMed gnomAD
rs375568117 CA577952	834	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA338311132 rs1431544325	836	H>D		No	ClinGen TOPMed
CA338311109 COSM913607 rs1328461877	837	R>C	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs773397450 CA577949	837	R>H		No	ClinGen ExAC TOPMed gnomAD
CA338311072 rs1292980914	839	F>S		No	ClinGen gnomAD
rs1570429543 CA338311033	841	D>A		No	ClinGen Ensembl
rs772315972 CA338311028	841	D>E		No	ClinGen ExAC TOPMed gnomAD
CA577947 rs748431467	842	L>Q		No	ClinGen ExAC gnomAD
CA577946 rs775095876	848	A>P		No	ClinGen ExAC gnomAD
CA577943 rs756818423	849	N>K		No	ClinGen ExAC gnomAD
rs146135346 CA577944	849	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA577941 rs746567140	850	P>S		No	ClinGen ExAC TOPMed gnomAD
CA577939 rs758085574	851	H>Q		No	ClinGen ExAC gnomAD
rs754287069 CA338310839	854	A>S		No	ClinGen ExAC gnomAD
rs754287069 CA577935 COSM1345076	854	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs548045526	855	V>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs751722195 CA577910 COSM1345075	856	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs17855572 CA17792643 VAR_039555	857	P>H		No	ClinGen UniProt Ensembl dbSNP
CA338310716 rs1378887933	858	S>N		No	ClinGen gnomAD
CA17792638 rs996775430	859	T>A		No	ClinGen TOPMed
CA338310693 rs1557687865	859	T>I		No	ClinGen Ensembl
TCGA novel	859	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1312705742 CA338310687	860	A>T		No	ClinGen TOPMed
rs764430444 CA577909	860	A>V		No	ClinGen ExAC TOPMed gnomAD
CA577907 rs371099358	862	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs773348768 CA577905	864	I>M		No	ClinGen ExAC gnomAD
rs986446737 CA17792595	865	V>M		No	ClinGen TOPMed
CA577903 rs771468126	866	V>M		No	ClinGen ExAC gnomAD
CA338310557 rs778399511	868	V>F		No	ClinGen ExAC TOPMed gnomAD
CA577901 rs778399511	868	V>I		No	ClinGen ExAC TOPMed gnomAD
VAR_039556 rs17855573 CA17792568	870	F>S		No	ClinGen UniProt Ensembl dbSNP
CA338310499 rs1570428842	873	F>L		No	ClinGen Ensembl
CA338310478 rs1188003065	874	M>I		No	ClinGen gnomAD
rs748957553 CA338310487	874	M>L		No	ClinGen ExAC TOPMed gnomAD
rs748957553 CA577899	874	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	876	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA17792537 rs954941549	877	L>P		No	ClinGen Ensembl
CA338310433 rs1557687805	878	G>E		No	ClinGen Ensembl
rs535818167 CA17792531	878	G>W		No	ClinGen Ensembl
rs996378179 CA17792525	880	F>V		No	ClinGen Ensembl
CA577896 rs746371855	881	R>L		No	ClinGen ExAC gnomAD
rs754798318 CA577897	881	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1255150887 CA338310384	883	R>P		No	ClinGen TOPMed gnomAD
CA338310386 rs1255150887	883	R>Q		No	ClinGen TOPMed gnomAD
CA577895 COSM3386406 rs781753617	883	R>W	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs757264934 CA577894	884	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA17792438 rs764111313	885	A>S		No	ClinGen ExAC TOPMed gnomAD
CA577892 rs764111313	885	A>T		No	ClinGen ExAC TOPMed gnomAD
CA577890 rs202199314	886	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA338310359 rs1570428744	886	H>Y		No	ClinGen Ensembl
CA577889 rs372839499	887	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs760603431 CA577888	888	R>G		No	ClinGen ExAC TOPMed gnomAD
rs773260041 CA577887	888	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs760603431 CA17792415	888	R>W		No	ClinGen ExAC TOPMed gnomAD
CA338310331 rs1299079171	889	T>I		No	ClinGen gnomAD
CA17792403 rs902567044	890	M>I		No	ClinGen Ensembl
CA338310326 rs1342648951	890	M>V		No	ClinGen TOPMed
CA577886 rs138774376	891	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148167401 CA17792401	891	R>W		No	ClinGen ESP gnomAD
rs761687045 CA577885	892	D>N		No	ClinGen ExAC gnomAD
CA338310291 rs1557687722	893	Q>E		No	ClinGen Ensembl
rs1234718584 CA338310279	894	D>N		No	ClinGen TOPMed gnomAD
rs1185544711 CA338310246	896	G>A		No	ClinGen gnomAD
rs1387125116 CA338310251	896	G>R		No	ClinGen TOPMed gnomAD
rs768060851 CA577883	897	K>R		No	ClinGen ExAC TOPMed gnomAD
rs775193138 CA577881	899	N>K		No	ClinGen ExAC TOPMed gnomAD
rs762629054 CA577880	900	E>K		No	ClinGen ExAC gnomAD
TCGA novel	901	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs746283962 CA577879	901	M>V		No	ClinGen ExAC gnomAD
rs937876766 CA17792367	902	D>Y		No	ClinGen Ensembl
rs777853230 CA577875	905	D>A		No	ClinGen ExAC gnomAD
rs1419652684 CA338310124	905	D>E		No	ClinGen TOPMed
rs747494193 CA338310132	905	D>H		No	ClinGen ExAC TOPMed gnomAD
rs747494193 CA577876	905	D>N		No	ClinGen ExAC TOPMed gnomAD
CA338310079 rs1340362394	910	I>V		No	ClinGen gnomAD
CA577873 rs752952745	911	T>S		No	ClinGen ExAC gnomAD
TCGA novel	912	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs749984511 CA577871	912	V>I		No	ClinGen ExAC TOPMed gnomAD
CA17792304 rs764604815	915	M>I		No	ClinGen gnomAD
CA338309902 rs1364464463	918	Y>C		No	ClinGen gnomAD
CA338309900 rs1364464463	918	Y>F		No	ClinGen gnomAD
CA577832 rs780195994	919	E>K		No	ClinGen ExAC gnomAD
CA577829 rs777576529	921	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs758283175 CA577828	922	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA338309834 rs1360291902	923	S>N		No	ClinGen TOPMed
TCGA novel	924	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142472808 CA577825	925	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA338309812 rs1427424051	925	E>Q		No	ClinGen gnomAD
rs1474045649 CA338309791	926	E>G		No	ClinGen gnomAD
rs1183689503 CA338309799	926	E>K		No	ClinGen gnomAD
CA338309784 rs1236274192	927	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA338309748 rs1277219390	929	E>K		No	ClinGen gnomAD
rs1277219390 CA338309747	929	E>Q		No	ClinGen gnomAD
CA338309701 rs1292558482	932	E>*		No	ClinGen gnomAD
TCGA novel	932	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA577816 rs760402974	933	E>D		No	ClinGen ExAC gnomAD
CA577811 rs142492603	937	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA577809 rs768841934	939	G>S		No	ClinGen ExAC TOPMed gnomAD
COSM913602 rs1002647679 CA17791407	940	E>K	lung Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	941	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1034338356 CA17791376	942	E>A		No	ClinGen TOPMed
CA338309617 rs1570427204	942	E>K		No	ClinGen Ensembl
rs1373976573 CA338309608	943	D>G		No	ClinGen TOPMed
CA338309590 rs1406667417	945	I>M		No	ClinGen gnomAD
CA577805 rs769868425	946	T>P		No	ClinGen ExAC gnomAD
rs777490716 CA577804	947	S>R		No	ClinGen ExAC TOPMed gnomAD
rs370461158 CA577802	948	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs748076549 CA577801	948	A>V		No	ClinGen ExAC TOPMed gnomAD
CA338309573 rs1180529851	949	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA577800 rs778883380	950	S>L		No	ClinGen ExAC TOPMed gnomAD
CA577796 rs148584143	951	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA577797 rs72633874	951	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs767988315 CA577794	952	S>R		No	ClinGen ExAC gnomAD
CA577795 rs146107596	952	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA338309547 rs1329802827	953	S>G		No	ClinGen gnomAD
rs199996642 CA577793	953	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA577792 rs139391580	954	E>K		No	ClinGen ESP ExAC gnomAD
CA577791 rs764551371	957	E>G		No	ClinGen ExAC gnomAD
rs1349492569 CA338309518	957	E>K		No	ClinGen gnomAD
rs1317951338 CA338309509	958	G>A		No	ClinGen TOPMed
CA338309510 rs1317951338	958	G>E		No	ClinGen TOPMed
rs769931265 CA577788 CA338309511	958	G>R		No	ClinGen ExAC TOPMed gnomAD
rs769931265 CA577789	958	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1424946310 CA338309493	960	Q>H		No	ClinGen gnomAD
rs1231014485 CA338309488	961	G>D		No	ClinGen TOPMed
rs1570426960 CA338309483	962	D>A		No	ClinGen Ensembl
CA577781 rs150910188	962	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776908677 CA577782	962	D>N		No	ClinGen ExAC TOPMed gnomAD
rs778708047 CA577779	965	N>I		No	ClinGen ExAC gnomAD
rs778708047 CA338309462	965	N>T		No	ClinGen ExAC gnomAD
rs749257979 CA577777 COSM3806196	966	A>T	Variant assessed as Somatic; 5.55e-05 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1570426906 CA338309453	967	T>P		No	ClinGen Ensembl
CA577776 rs199861622	967	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA577774 rs750086603	968	R>Q		No	ClinGen ExAC gnomAD
rs755716425 CA577775	968	R>W		No	ClinGen ExAC TOPMed gnomAD
rs112805379 CA17791184	969	Q>R		No	ClinGen TOPMed gnomAD
CA338309419 rs1570426862	972	L>R		No	ClinGen Ensembl
CA577773 rs767325519	973	E>V		No	ClinGen ExAC gnomAD
CA338309408 rs1570426846	974	W>G		No	ClinGen Ensembl
CA338309401 rs1270013360	975	D>N		No	ClinGen gnomAD
rs757662499 CA338309387	976	D>E		No	ClinGen ExAC gnomAD
rs751934795 CA577771	977	S>F		No	ClinGen ExAC TOPMed gnomAD
CA338309372 rs1301725067	979	L>F		No	ClinGen gnomAD
rs764542791 CA577770	980	S>G		No	ClinGen ExAC gnomAD
CA338309366 rs1365109069	980	S>N		No	ClinGen gnomAD
rs763310976 CA577769	980	S>R		No	ClinGen ExAC gnomAD
rs753256517 CA577768	981	Y>C		No	ClinGen ExAC gnomAD

No associated diseases with O94985

2 regional properties for O94985

Type	Name	Position	InterPro Accession
domain	Cadherin-like	37 - 265	IPR002126
domain	Calsyntenin, C-terminal	566 - 919	IPR045588

Functions

		Description
EC Number
Subcellular Localization	Postsynaptic cell membrane ; Single-pass type I membrane protein Endoplasmic reticulum membrane ; Single-pass type I membrane protein Golgi apparatus membrane ; Single-pass type I membrane protein Cell projection, neuron projection	Localized in the postsynaptic membrane of both excitatory and inhibitory synapses
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

12 GO annotations of cellular component

Name	Definition
anchoring junction	A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix.
cell surface	The external part of the cell wall and/or plasma membrane.
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
glutamatergic synapse	A synapse that uses glutamate as a neurotransmitter.
Golgi membrane	The lipid bilayer surrounding any of the compartments of the Golgi apparatus.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
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.
postsynaptic density	An electron dense network of proteins within and adjacent to the postsynaptic membrane of an asymmetric, neuron-neuron synapse. Its major components include neurotransmitter receptors and the proteins that spatially and functionally organize them such as anchoring and scaffolding molecules, signaling enzymes and cytoskeletal components.
postsynaptic endosome	An endosomal compartment that is part of the post-synapse. Only early and recycling endosomes are typically present in the postsynapse.
postsynaptic membrane	A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane.

4 GO annotations of molecular function

Name	Definition
amyloid-beta binding	Binding to an amyloid-beta peptide/protein.
calcium ion binding	Binding to a calcium ion (Ca2+).
kinesin binding	Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation.
X11-like protein binding	Binding to X11-like protein, a neuron-specific adaptor protein.

8 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
homophilic cell adhesion via plasma membrane adhesion molecules	The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.
neurotransmitter receptor transport to postsynaptic membrane	The directed movement of neurotransmitter receptor to the postsynaptic membrane in transport vesicles.
positive regulation of synapse assembly	Any process that activates, maintains or increases the frequency, rate or extent of synapse assembly, the aggregation, arrangement and bonding together of a set of components to form a synapse.
positive regulation of synaptic transmission	Any process that activates or increases the frequency, rate or extent of synaptic transmission, the process of communication from a neuron to a target (neuron, muscle, or secretory cell) across a synapse.
regulation of cell growth	Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of synapse maturation	Any process that modulates the extent of synapse maturation, the process that organizes a synapse so that it attains its fully functional state.
vesicle-mediated transport in synapse	Any vesicle-mediated transport that occurs in a synapse.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9EPL2	Clstn1	Calsyntenin-1	Mus musculus (Mouse)	PR
Q6Q0N0	Clstn1	Calsyntenin-1	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MLRRPAPALA	PAARLLLAGL	LCGGGVWAAR	VNKHKPWLEP	TYHGIVTEND	NTVLLDPPLI
70	80	90	100	110	120
ALDKDAPLRF	AESFEVTVTK	EGEICGFKIH	GQNVPFDAVV	VDKSTGEGVI	RSKEKLDCEL
130	140	150	160	170	180
QKDYSFTIQA	YDCGKGPDGT	NVKKSHKATV	HIQVNDVNEY	APVFKEKSYK	ATVIEGKQYD
190	200	210	220	230	240
SILRVEAVDA	DCSPQFSQIC	SYEIITPDVP	FTVDKDGYIK	NTEKLNYGKE	HQYKLTVTAY
250	260	270	280	290	300
DCGKKRATED	VLVKISIKPT	CTPGWQGWNN	RIEYEPGTGA	LAVFPNIHLE	TCDEPVASVQ
310	320	330	340	350	360
ATVELETSHI	GKGCDRDTYS	EKSLHRLCGA	AAGTAELLPS	PSGSLNWTMG	LPTDNGHDSD
370	380	390	400	410	420
QVFEFNGTQA	VRIPDGVVSV	SPKEPFTISV	WMRHGPFGRK	KETILCSSDK	TDMNRHHYSL
430	440	450	460	470	480
YVHGCRLIFL	FRQDPSEEKK	YRPAEFHWKL	NQVCDEEWHH	YVLNVEFPSV	TLYVDGTSHE
490	500	510	520	530	540
PFSVTEDYPL	HPSKIETQLV	VGACWQEFSG	VENDNETEPV	TVASAGGDLH	MTQFFRGNLA
550	560	570	580	590	600
GLTLRSGKLA	DKKVIDCLYT	CKEGLDLQVL	EDSGRGVQIQ	AHPSQLVLTL	EGEDLGELDK
610	620	630	640	650	660
AMQHISYLNS	RQFPTPGIRR	LKITSTIKCF	NEATCISVPP	VDGYVMVLQP	EEPKISLSGV
670	680	690	700	710	720
HHFARAASEF	ESSEGVFLFP	ELRIISTITR	EVEPEGDGAE	DPTVQESLVS	EEIVHDLDTC
730	740	750	760	770	780
EVTVEGEELN	HEQESLEVDM	ARLQQKGIEV	SSSELGMTFT	GVDTMASYEE	VLHLLRYRNW
790	800	810	820	830	840
HARSLLDRKF	KLICSELNGR	YISNEFKVEV	NVIHTANPME	HANHMAAQPQ	FVHPEHRSFV
850	860	870	880	890	900
DLSGHNLANP	HPFAVVPSTA	TVVIVVCVSF	LVFMIILGVF	RIRAAHRRTM	RDQDTGKENE
910	920	930	940	950	960
MDWDDSALTI	TVNPMETYED	QHSSEEEEEE	EEEEESEDGE	EEDDITSAES	ESSEEEEGEQ
970	980
GDPQNATRQQ	QLEWDDSTLS	Y