AiPD: Autoinhibited Protein Database

O15056

Gene name	SYNJ2 (KIAA0348)
Protein name	Synaptojanin-2
Names	Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:8871
EC number	3.1.3.36: Phosphoric monoester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1087-1256 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1087-1256 (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 O15056

Entry ID	Method	Resolution	Chain	Position	Source
1UFW	NMR	-	A	882-963	PDB
AF-O15056-F1	Predicted				AlphaFoldDB

1314 variants for O15056

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA150912011 rs748314269	4	S>G		No	ClinGen gnomAD
rs772290356 CA4069328	4	S>N		No	ClinGen ExAC gnomAD
rs1392809341 CA366229406	6	G>E		No	ClinGen gnomAD
rs967020102 CA366229427	8	R>W		No	ClinGen TOPMed gnomAD
rs766380668 CA4069331	10	L>R		No	ClinGen ExAC TOPMed
CA366229521 rs1290109451	15	A>S		No	ClinGen TOPMed
CA366229519 rs1290109451	15	A>T		No	ClinGen TOPMed
rs1296127481 CA366229537	16	E>D		No	ClinGen TOPMed
rs191836727 CA4069332	16	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA150912064 rs1034933145	17	G>E		No	ClinGen TOPMed gnomAD
CA150912073 rs960054593	18	D>Y		No	ClinGen TOPMed
CA366229586 rs1583268884	19	C>W		No	ClinGen Ensembl
rs1174817435 CA366229589	20	S>G		No	ClinGen TOPMed
rs1239100124 CA366229600	20	S>R		No	ClinGen TOPMed
CA366229612 rs1310377569	21	V>A		No	ClinGen gnomAD
CA366229607 rs1583268900	21	V>L		No	ClinGen Ensembl
CA150912081 rs566346927	22	L>V		No	ClinGen 1000Genomes TOPMed
CA4069334 rs760101780	26	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760101780 CA4069333	26	R>G		No	ClinGen ExAC TOPMed gnomAD
CA366229687 rs1248809028	26	R>H		No	ClinGen TOPMed
CA4069335 rs753105652	27	G>C		No	ClinGen ExAC TOPMed gnomAD
rs1483666610 CA366229711	28	R>C		No	ClinGen TOPMed
CA366229714 rs1255611827	28	R>L		No	ClinGen TOPMed
rs758709447 CA366229722	29	D>E		No	ClinGen ExAC TOPMed gnomAD
rs369228509 CA4069337	30	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA366229749 rs1200676560	34	F>L		No	ClinGen gnomAD
rs1228892489 CA366229767	36	A>V		No	ClinGen TOPMed
rs951407915 CA150912095	37	G>R		No	ClinGen Ensembl
CA366229776 rs1316127917	38	T>A		No	ClinGen TOPMed
rs1397549342 CA366229787	40	A>T		No	ClinGen TOPMed
rs901148515 CA150912104	41	T>A		No	ClinGen TOPMed
CA366229799 rs1449894549	41	T>K		No	ClinGen TOPMed
rs1168454087 CA366229810	43	A>P		No	ClinGen gnomAD
rs1369323621 CA366239243	49	V>A		No	ClinGen gnomAD
CA4069352 rs139326629	53	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069351 rs765679874	53	Q>K		No	ClinGen ExAC
rs1347734473 CA366239352	54	Y>C		No	ClinGen gnomAD
CA150942747 rs933154214	54	Y>H		No	ClinGen TOPMed gnomAD
CA366239363 rs1435548524	55	G>D		No	ClinGen gnomAD
rs763322625 CA4069353	56	K>N		No	ClinGen ExAC gnomAD
CA4069354 rs764426908	57	L>F		No	ClinGen ExAC gnomAD
rs750091072 CA4069356	58	T>M		No	ClinGen ExAC TOPMed gnomAD
rs750091072 CA4069357	58	T>R		No	ClinGen ExAC TOPMed gnomAD
rs375823772 CA4069359	59	D>G		No	ClinGen ESP ExAC gnomAD
CA150942808 rs778928276	60	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4069361 rs778928276	60	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4069362 COSM2157356 rs143362296	60	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP TOPMed
rs61733903 CA366239534	61	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs368702906 CA150942827	61	Y>N		No	ClinGen ESP TOPMed
TCGA novel	62	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4069368 rs777495427	62	G>S		No	ClinGen ExAC TOPMed gnomAD
rs527793217 CA150942884	63	C>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4069370 rs771187696	63	C>S		No	ClinGen ExAC gnomAD
rs747222262 CA4069369	63	C>S		No	ClinGen ExAC TOPMed gnomAD
rs527793217 CA4069371	63	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs769865827 CA4069373	64	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs895208662 CA150942902	65	G>R		No	ClinGen TOPMed
rs763439585 CA366239635	66	E>G		No	ClinGen ExAC
rs1411266467 CA366239628	66	E>K		No	ClinGen gnomAD
rs763439585 CA4069375	66	E>V		No	ClinGen ExAC
rs1404380385 CA366239648	67	L>P		No	ClinGen gnomAD
rs1318740215 CA366239682	68	R>K		No	ClinGen gnomAD
CA4069376 rs372749745	69	L>Q		No	ClinGen ESP ExAC gnomAD
rs199983838 CA4069377	71	S>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs773902545 CA4069449	74	T>M		No	ClinGen ExAC TOPMed gnomAD
rs868405074 CA150895324	75	S>P		No	ClinGen Ensembl
CA4069452 rs767406586	76	L>Q		No	ClinGen ExAC gnomAD
CA150895348 rs776867139	77	S>G		No	ClinGen TOPMed
rs773139248 CA4069453	77	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1246161326 CA366224767	78	F>L		No	ClinGen gnomAD
CA366224812 rs1256887449	82	V>M		No	ClinGen gnomAD
TCGA novel	84	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1424030912 CA366224860	85	C>R		No	ClinGen TOPMed
TCGA novel	86	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366224888 rs1425791273	87	S>C		No	ClinGen gnomAD
rs760330239 CA4069454	88	V>A		No	ClinGen ExAC TOPMed gnomAD
rs760330239 CA366224917	88	V>G		No	ClinGen ExAC TOPMed gnomAD
rs766256687 CA4069455	89	G>R		No	ClinGen ExAC gnomAD
CA366224928 rs766256687	89	G>S		No	ClinGen ExAC gnomAD
rs146500677 CA4069456	90	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1562337244 CA366224978	92	P>A		No	ClinGen Ensembl
rs755266262 CA4069457	93	D>N		No	ClinGen ExAC gnomAD
rs1268924041 CA366225022	95	E>K		No	ClinGen TOPMed
CA150895440 rs139968280	98	K>Q		No	ClinGen ESP TOPMed gnomAD
rs1583350651 CA366225123	100	T>P		No	ClinGen Ensembl
rs1380655693 CA366225184	100	T>S		No	ClinGen gnomAD
CA366225218 rs1393948542	102	T>I		No	ClinGen gnomAD
TCGA novel	102	T>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs142196925 CA4069461	105	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs778353772 CA4069462 COSM1311753	107	L>F	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1041654317 CA150895453	108	Q>H		No	ClinGen TOPMed gnomAD
CA366225409 rs1227362693	112	K>E		No	ClinGen TOPMed gnomAD
CA4069463 rs747527797	113	E>G		No	ClinGen ExAC gnomAD
CA366225439 rs1210651844	114	E>K		No	ClinGen TOPMed gnomAD
rs1562337343 CA366225461	115	E>*		No	ClinGen Ensembl
CA4069465 rs781667368	116	R>C	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs376223674 CA150895502 COSM1441844	116	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
rs1388619895 CA366225636	125	S>T		No	ClinGen TOPMed
rs373812551 COSM1075388 CA4069467	126	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1184799681 CA366225653	127	G>R		No	ClinGen gnomAD
rs1184799681 CA366225657	127	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA4069472 rs760734882	128	V>A		No	ClinGen ExAC TOPMed gnomAD
CA4069471 rs771584233	128	V>L		No	ClinGen ExAC TOPMed gnomAD
rs771584233 CA4069470	128	V>M		No	ClinGen ExAC TOPMed gnomAD
CA366225699 rs770599260	129	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	133	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	134	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4069475 rs150300534	134	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069477 rs765515889	135	N>K		No	ClinGen ExAC TOPMed gnomAD
CA4069478 rs147584404	136	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs147584404 CA366225818	136	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA366225857 rs1286234416	138	S>P		No	ClinGen gnomAD
CA4069479 rs764323909	139	R>C		No	ClinGen ExAC TOPMed gnomAD
CA4069480 rs142094400	139	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA366225892 rs142094400	139	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA366225949 rs1232766468	144	V>I		No	ClinGen TOPMed
CA4069482 rs199926568	145	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4069483 rs200841167	145	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs200841167 CA150895581	145	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA366225981 rs1483505641	146	T>M		No	ClinGen TOPMed gnomAD
CA366225983 rs1250092204	147	Q>K		No	ClinGen gnomAD
TCGA novel	150	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778480743 CA4069485	151	D>H		No	ClinGen ExAC gnomAD
CA366226032 rs778480743	151	D>N		No	ClinGen ExAC gnomAD
rs778480743 CA366226033	151	D>Y		No	ClinGen ExAC gnomAD
CA150895628 rs759833654	156	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs201774372 CA4069487	156	W>*		No	ClinGen 1000Genomes ExAC gnomAD
rs771567677 CA4069488	157	G>E		No	ClinGen ExAC gnomAD
rs529031448 CA4069489	158	N>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	158	N>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4069490 rs746897372	158	N>I		No	ClinGen ExAC gnomAD
rs746897372 CA4069491	158	N>S		No	ClinGen ExAC gnomAD
CA366226091 rs1304921023	159	S>C		No	ClinGen TOPMed gnomAD
CA366226097 rs1305749376	160	F>S		No	ClinGen gnomAD
rs769720492 CA4069494	162	W>L		No	ClinGen ExAC gnomAD
rs777311806 CA4069514	163	N>H		No	ClinGen ExAC gnomAD
rs1562341636 CA366226753	164	Q>*		No	ClinGen Ensembl
CA366226758 rs746487556	164	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs746487556 CA4069515	164	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs768270151 CA150898607	166	L>F		No	ClinGen Ensembl
CA4069517 rs781122324	167	H>R		No	ClinGen ExAC gnomAD
rs756724341 CA4069516	167	H>Y		No	ClinGen ExAC gnomAD
rs769705005 CA4069519	168	V>L		No	ClinGen ExAC TOPMed gnomAD
rs769705005 CA4069520	168	V>M		No	ClinGen ExAC TOPMed gnomAD
rs749120741 CA4069521	170	L>S		No	ClinGen ExAC gnomAD
CA366226842 rs1273172114	173	H>Y		No	ClinGen gnomAD
rs568247670 CA150898668	174	Q>*		No	ClinGen gnomAD
CA366226865 rs1186133195	174	Q>H		No	ClinGen gnomAD
rs774444972 CA4069523	174	Q>R		No	ClinGen ExAC gnomAD
TCGA novel	177	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs761898982 CA4069524	178	C>R		No	ClinGen ExAC gnomAD
CA4069525 rs767551369	180	W>*		No	ClinGen ExAC gnomAD
rs773765179 CA4069526	180	W>C		No	ClinGen ExAC gnomAD
rs761211857 CA4069527	181	L>P		No	ClinGen ExAC gnomAD
CA4069528 rs766709602	182	L>V		No	ClinGen ExAC gnomAD
rs1399583695 CA366226997	183	K>R		No	ClinGen TOPMed
rs995565614 CA150898690	184	I>T		No	ClinGen Ensembl
rs754151212 CA4069529	185	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4069531 rs201325150	186	C>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA150898695 rs778633911	186	C>Y		No	ClinGen Ensembl
CA4069532 rs376191774	187	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1583362930 CA366227083	188	V>G		No	ClinGen Ensembl
CA366227067 rs1449063664	188	V>M		No	ClinGen gnomAD
CA366227109 rs1583362960	190	T>P		No	ClinGen Ensembl
CA366227120 rs1182078306	190	T>S		No	ClinGen TOPMed
rs200842364 CA4069533	192	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069534 rs780631032	192	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4069536 rs756166754	194	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	197	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs568153239 CA4069537	198	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA4069538 rs749025885	199	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1442542234 CA366227257	201	A>P		No	ClinGen gnomAD
CA150898772 rs1030044089	203	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4069542 rs535069011 COSM1075390	206	V>I	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4069543 rs773216272	208	R>C		No	ClinGen ExAC TOPMed gnomAD
rs146752926 CA4069544	208	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs759832201 CA366227368	209	V>F		No	ClinGen ExAC TOPMed gnomAD
COSM1441846 CA4069547 rs759832201	209	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs765578650 CA4069548	211	C>R		No	ClinGen ExAC gnomAD
rs200442289 CA4069549	213	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA4069551 rs140274772	213	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140274772 CA4069550	213	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755691012 CA4069553	215	G>V		No	ClinGen ExAC gnomAD
CA4069556 rs753885769	217	R>C		No	ClinGen ExAC TOPMed gnomAD
rs778616482 COSM1672940 CA4069557	217	R>H	Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs778616482 CA4069558	217	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4069555 rs753885769	217	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1222340005 CA366227578 COSM1621143	218	F>C	liver [Cosmic]	No	ClinGen cosmic curated TOPMed
rs778000003 CA4069560	218	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1485143538 CA366227641	220	T>A		No	ClinGen gnomAD
rs538435329 CA4069562	221	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA4069563 rs777104909	221	R>H		No	ClinGen ExAC TOPMed gnomAD
rs143215663 CA4069565	223	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs763396168 CA366227717	224	N>K		No	ClinGen ExAC TOPMed gnomAD
CA4069566 rs775765108	224	N>S		No	ClinGen ExAC gnomAD
CA4069568 rs143803774	225	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs574864981 COSM1228264 CA4069570	226	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA4069572 rs147847428	227	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1332192735 CA366227816	231	N>D		No	ClinGen gnomAD
CA366227857 rs778933903	232	F>L		No	ClinGen ExAC gnomAD
rs760907692 CA150898929	232	F>V		No	ClinGen Ensembl
CA4069575 rs140077439	233	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs758215046 CA4069576	235	T>I		No	ClinGen ExAC gnomAD
CA366229834 rs1388185166	238	M>L		No	ClinGen gnomAD
rs1448779223 CA366229863	240	Y>*		No	ClinGen gnomAD
rs569118837 CA4069603	240	Y>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758908812 CA4069607	241	M>I		No	ClinGen ExAC gnomAD
CA4069605 rs770669836	241	M>K		No	ClinGen ExAC gnomAD
rs770669836 CA4069606	241	M>T		No	ClinGen ExAC gnomAD
rs746663072 CA4069604	241	M>V		No	ClinGen ExAC TOPMed gnomAD
CA4069609 rs775280662	242	D>E		No	ClinGen ExAC gnomAD
rs764856239 CA4069608	242	D>G		No	ClinGen ExAC gnomAD
rs763854356 COSM1228263 CA4069611	243	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA150906492 rs761033591	245	V>A		No	ClinGen Ensembl
CA4069614 rs767670359	247	S>P		No	ClinGen ExAC gnomAD
rs767670359 CA366229954	247	S>T		No	ClinGen ExAC gnomAD
TCGA novel	247	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366230062 rs1406061913	253	G>S		No	ClinGen TOPMed
rs142082418 CA4069618	255	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1075393 CA4069619 rs200593132	256	P>L	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA4069621 rs748459692	257	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4069622 rs772575524	258	F>L		No	ClinGen ExAC gnomAD
rs745596768 CA4069624	261	Q>E		No	ClinGen ExAC gnomAD
rs769151975 CA4069625	262	P>S		No	ClinGen ExAC gnomAD
CA366230205 rs1229980025	263	G>E		No	ClinGen gnomAD
CA366232291 rs1372529481	266	V>I		No	ClinGen gnomAD
rs1302094853 CA366232308	267	G>A		No	ClinGen gnomAD
CA366232311 rs1302094853	267	G>V		No	ClinGen gnomAD
rs779501548 CA4069638	270	H>P		No	ClinGen ExAC TOPMed gnomAD
rs753312094 CA366232360	271	L>V		No	ClinGen ExAC TOPMed gnomAD
rs912095920 CA150916248	272	R>G		No	ClinGen Ensembl
CA4069640 rs758827077	274	H>R		No	ClinGen ExAC gnomAD
rs1245959618 CA366232463	278	E>D		No	ClinGen gnomAD
CA4069641 rs778236741	278	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	278	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366232479 rs1192242585	279	A>G		No	ClinGen TOPMed gnomAD
rs1192242585 CA366232481	279	A>V		No	ClinGen TOPMed gnomAD
CA4069642 rs745485407	280	N>D		No	ClinGen ExAC gnomAD
CA366232520 rs769439682	281	A>D		No	ClinGen ExAC gnomAD
CA4069643 rs769439682	281	A>V		No	ClinGen ExAC gnomAD
rs200421403 CA150916267	282	P>L		No	ClinGen Ensembl
CA4069645 rs748728524	285	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1168073282 CA366232618	286	R>M		No	ClinGen gnomAD
CA366233163 rs1475212555	287	H>R		No	ClinGen TOPMed
rs1229315719 CA366233175	288	M>V		No	ClinGen TOPMed gnomAD
rs1295427562 CA366233217	290	L>P		No	ClinGen gnomAD
CA366233263 rs1156553882	294	Q>E		No	ClinGen gnomAD
CA366233271 rs1213024117	294	Q>H		No	ClinGen gnomAD
CA150922500 rs776738607	295	Y>*		No	ClinGen Ensembl
CA4069660 rs751911914	295	Y>C		No	ClinGen ExAC gnomAD
CA150922488 rs901532450	295	Y>H		No	ClinGen TOPMed gnomAD
CA4069662 CA4069661 rs374124975	296	G>R		No	ClinGen ESP ExAC gnomAD
rs1415332791 CA366233301	297	Q>H		No	ClinGen gnomAD
rs1242380509 CA366233294	297	Q>R		No	ClinGen TOPMed
rs933252631 CA150922530	298	Q>*		No	ClinGen TOPMed gnomAD
CA366233309 rs1474858198	298	Q>R		No	ClinGen gnomAD
rs149724554 CA366233337	301	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149724554 CA4069664	301	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1316305697 CA366233345	302	N>S		No	ClinGen gnomAD
CA366233350 rs1347540051	303	L>F		No	ClinGen gnomAD
TCGA novel	304	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366233373 rs1315208543	305	G>E		No	ClinGen gnomAD
CA366233385 rs1353906236	306	S>N		No	ClinGen gnomAD
rs1233017992 CA366233390	306	S>R		No	ClinGen gnomAD
rs747680097 CA4069666	308	G>D		No	ClinGen ExAC TOPMed gnomAD
CA366233425 rs1282874581	309	G>R		No	ClinGen gnomAD
rs1430461044 CA366233434	310	E>Q		No	ClinGen TOPMed
rs945320111 CA150922547	311	E>A		No	ClinGen TOPMed gnomAD
CA366233479 rs1583429099	312	V>G		No	ClinGen Ensembl
rs1254923045 CA366233467	312	V>M		No	ClinGen TOPMed gnomAD
rs1182615434 CA366233481	313	L>F		No	ClinGen gnomAD
rs1393047534 CA366233493	314	N>H		No	ClinGen TOPMed
CA4069668 rs773032136	316	A>T		No	ClinGen ExAC gnomAD
rs1562366485 CA366233537	317	F>V		No	ClinGen Ensembl
CA366233552 rs1156907527	318	K>R		No	ClinGen gnomAD
TCGA novel	321	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763029513 CA4069693	321	L>V		No	ClinGen ExAC gnomAD
rs764136744 CA4069695	323	A>S		No	ClinGen ExAC TOPMed gnomAD
rs375469616 CA150924413	324	S>P		No	ClinGen Ensembl
rs1167694163 CA366233952	325	C>Y		No	ClinGen gnomAD
rs148490195 CA150924428	326	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4069698 rs768034618	327	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4069699 COSM1075395 rs202038099	327	A>V	Variant assessed as Somatic; 0.0 impact. endometrium central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs573155993 CA150924452	328	G>D		No	ClinGen 1000Genomes
rs147574700 CA4069701	329	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069702 rs369496843	330	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs745741351 CA4069704	332	M>V		No	ClinGen ExAC TOPMed gnomAD
rs746939278 CA366234263	333	I>F		No	ClinGen ExAC TOPMed gnomAD
rs746939278 CA4069705	333	I>V		No	ClinGen ExAC TOPMed gnomAD
rs531202701 CA150924479	334	N>K		No	ClinGen Ensembl
rs781309176 CA4069707	334	N>S		No	ClinGen ExAC gnomAD
TCGA novel	336	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA150924484 rs947577563	341	A>P		No	ClinGen Ensembl
CA366234482 rs1264209302	343	G>R		No	ClinGen gnomAD
CA4069709 rs769722489	343	G>V		No	ClinGen ExAC gnomAD
CA366234508 rs1367056356	345	K>N		No	ClinGen TOPMed gnomAD
CA4069710 rs780408098	345	K>R		No	ClinGen ExAC gnomAD
CA4069712 rs768761112	347	E>Q		No	ClinGen ExAC gnomAD
rs1453917244 CA366234599	349	L>W		No	ClinGen gnomAD
CA4069714 rs761984788	350	E>G		No	ClinGen ExAC gnomAD
CA4069715 rs763085854	351	T>I		No	ClinGen ExAC gnomAD
rs61746418 CA4069717	352	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA366234649 rs1390229219	352	L>P		No	ClinGen TOPMed
rs61746418 CA366234647	352	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1320760855 CA366234664	353	L>F		No	ClinGen TOPMed
CA4069718 rs145826952	359	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA150924509 rs980799115	359	L>V		No	ClinGen TOPMed gnomAD
CA366234822 rs752361012	360	H>P		No	ClinGen ExAC TOPMed gnomAD
CA4069719 rs752361012	360	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1239865079 CA366234941	364	F>C		No	ClinGen gnomAD
CA150924517 rs980255176	364	F>V		No	ClinGen TOPMed gnomAD
CA150924526 rs960862281 CA366234974	365	D>E		No	ClinGen TOPMed
CA4069721 rs763826262	365	D>N		No	ClinGen ExAC TOPMed gnomAD
CA4069722 rs750989803	366	V>M		No	ClinGen ExAC gnomAD
CA4069723 rs756831001	369	K>N		No	ClinGen ExAC TOPMed gnomAD
rs370643062 CA4069725 CA4069726	370	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1244459427 CA366235089	370	G>V		No	ClinGen TOPMed
rs370643062 CA4069724	370	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1258446424	371	E>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA366235120 rs1420147964	372	N>D		No	ClinGen gnomAD
CA4069729 rs147803986	373	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200437978 CA4069731	374	S>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200437978 CA150924586	374	S>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4069732 rs748121871	375	P>T		No	ClinGen ExAC gnomAD
rs371150490 CA150924595	376	R>C		No	ClinGen ESP TOPMed gnomAD
rs371150490 CA366235217	376	R>G		No	ClinGen ESP TOPMed gnomAD
rs772199451 CA366235218 COSM2149100	376	R>H	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4069733 rs772199451	376	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1243925011 CA366235376	377	F>S		No	ClinGen TOPMed
rs1326704235 CA366235428	380	G>D		No	ClinGen gnomAD
CA366235443 rs1396838406	381	T>A		No	ClinGen TOPMed gnomAD
CA366235463 rs1264283824	382	L>S		No	ClinGen TOPMed
rs138316440 CA4069771	383	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069770 rs757370442	383	R>W		No	ClinGen ExAC TOPMed gnomAD
rs149231494 CA4069772	384	M>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366235486 rs149231494	384	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1317861741 CA366235515	385	N>S		No	ClinGen gnomAD
CA150926011 rs770157231	386	C>R		No	ClinGen Ensembl
rs1359576203 CA366235529	386	C>Y		No	ClinGen TOPMed
TCGA novel	387	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs775949373 CA4069774	391	D>A		No	ClinGen ExAC TOPMed gnomAD
CA4069776 rs144981380	392	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA150926027 rs138792733	392	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138792733 CA4069777	392	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs760093130 CA4069778	395	T>A		No	ClinGen ExAC TOPMed gnomAD
rs765983758 CA4069779	396	V>A		No	ClinGen ExAC gnomAD
CA4069780 rs776406102	397	Q>R		No	ClinGen ExAC gnomAD
rs1415568235 CA366235712	398	S>N		No	ClinGen gnomAD
rs141957604 CA366235766	400	I>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA366235756 rs1164090498	400	I>V		No	ClinGen gnomAD
rs374757119 CA4069783	401	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069784 rs148209966	401	A>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA4069788 rs141160611 CA366235820	403	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366235814 rs1583441317	403	E>G		No	ClinGen Ensembl
rs141249286 CA4069787	403	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA366236225 rs1441802925	404	V>I		No	ClinGen gnomAD
CA4069814 rs780708848	405	L>P		No	ClinGen ExAC gnomAD
CA150926666 rs892795248	406	H>P		No	ClinGen TOPMed
rs1176851126 CA366236283	409	L>V		No	ClinGen TOPMed gnomAD
CA366236299 rs1454827493	410	K>R		No	ClinGen gnomAD
CA4069817 rs150778836	411	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1311018374 CA366236320	413	G>R		No	ClinGen TOPMed
TCGA novel	414	L>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366236373 rs1414242608	417	K>N		No	ClinGen TOPMed gnomAD
CA150926677 rs139197569	418	P>H		No	ClinGen ESP TOPMed
rs762916532 CA4069819	419	I>T		No	ClinGen ExAC gnomAD
rs1402616202 CA366236401	420	V>A		No	ClinGen TOPMed
CA4069820 rs181805875	420	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs181805875 CA4069821	420	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563234772 CA4069822	422	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs563234772 CA366236412	422	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4069824 rs186355477	422	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4069823 rs563234772	422	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1344098186 CA366236425	424	V>A		No	ClinGen gnomAD
rs1344098186 CA366236426	424	V>G		No	ClinGen gnomAD
CA4069825 rs149967912	424	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA150926712 rs149967912	424	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1275114659 CA366236439	426	S>C		No	ClinGen gnomAD
CA366236454 rs1330039383	428	K>R		No	ClinGen TOPMed gnomAD
rs1200310744 CA366236458	429	A>S		No	ClinGen TOPMed
CA366236468 rs1223717362	430	M>I		No	ClinGen TOPMed gnomAD
CA366236467 rs1196841549	430	M>R		No	ClinGen TOPMed gnomAD
rs991609322 CA150926715	430	M>V		No	ClinGen TOPMed
CA366236479 rs1352290024	431	W>C		No	ClinGen TOPMed
rs765880256 CA4069829	434	N>K		No	ClinGen ExAC TOPMed gnomAD
rs753033885 CA4069830	435	G>D		No	ClinGen ExAC
TCGA novel	437	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366236533 rs1376120754	440	K>E		No	ClinGen gnomAD
CA4069831 rs149708219	442	F>L		No	ClinGen 1000Genomes ExAC gnomAD
CA4069868 rs771215497	454	V>G		No	ClinGen ExAC gnomAD
rs777001742 CA4069869	455	G>E		No	ClinGen ExAC gnomAD
CA4069870 rs759671170	456	K>N		No	ClinGen ExAC gnomAD
rs901615636 CA150926899	456	K>R		No	ClinGen TOPMed
rs765297573 CA150926905	457	L>V		No	ClinGen ExAC gnomAD
CA4069872 rs776032147	458	K>E		No	ClinGen ExAC gnomAD
CA150926926 rs966676878 COSM3948321	459	D>N	lung [Cosmic]	No	ClinGen cosmic curated Ensembl
rs199932988 CA366236686	462	R>L		No	ClinGen 1000Genomes ExAC gnomAD
rs199932988 CA4069875	462	R>P		No	ClinGen 1000Genomes ExAC gnomAD
rs199932988 CA4069874	462	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
rs879457100 CA150926944	462	R>W		No	ClinGen gnomAD
CA366236687 rs1418875501	463	S>A		No	ClinGen gnomAD
TCGA novel	464	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1357317578 CA366236697	464	M>K		No	ClinGen gnomAD
CA4069876 rs762179123	464	M>V		No	ClinGen ExAC gnomAD
rs766003401 CA4069877	466	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs753556219 CA4069878	466	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1583444605 CA366236710	467	T>P		No	ClinGen Ensembl
CA366236720 rs1339999851	468	I>T		No	ClinGen gnomAD
CA4069879 rs370684471	470	S>C		No	ClinGen ESP ExAC gnomAD
CA366236762 rs1351695083	474	D>N		No	ClinGen gnomAD
rs1477741603 CA366236775	475	G>E		No	ClinGen TOPMed
CA4069882 rs758232865	475	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1256037827 CA366236785	476	V>A		No	ClinGen gnomAD
CA366236787 rs1256037827	476	V>G		No	ClinGen gnomAD
rs777775591 CA4069883	476	V>M		No	ClinGen ExAC TOPMed gnomAD
CA366236804 rs1471450995	477	K>N		No	ClinGen TOPMed gnomAD
CA4069884 rs746738656	478	Q>H		No	ClinGen ExAC gnomAD
CA366236821 rs1288577422	479	E>K		No	ClinGen TOPMed
CA4069887 rs781556792	480	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781556792 CA4069886	480	A>T		No	ClinGen ExAC TOPMed gnomAD
CA150927000 rs866906958	480	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4069888 rs144218638 CA4069889	482	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1438646203 CA366236866	482	K>R		No	ClinGen gnomAD
rs1338264607 CA366236889	484	L>P		No	ClinGen TOPMed
CA150927022 rs866951163	486	V>A		No	ClinGen TOPMed
TCGA novel	487	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366236936 rs1392041193	488	D>G		No	ClinGen gnomAD
rs768978230 CA4069891	488	D>H		No	ClinGen ExAC gnomAD
rs768978230 CA366236926	488	D>N		No	ClinGen ExAC gnomAD
rs762162556 CA4069893	489	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4069894 rs762162556	489	V>I		No	ClinGen ExAC TOPMed gnomAD
CA4069896 rs772220600	490	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs147794148 CA4069898	491	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs199914990 CA4069901	492	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366237024 rs1583444984	494	V>G		No	ClinGen Ensembl
CA4069904 rs745696641	495	A>E		No	ClinGen ExAC gnomAD
CA4069903 rs781179208	495	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4069905 rs769866852	496	D>G		No	ClinGen ExAC gnomAD
CA366237096 rs1373584681	499	G>D		No	ClinGen gnomAD
rs780327238 CA4069906	499	G>S		No	ClinGen ExAC gnomAD
rs1373584681 CA366237100	499	G>V		No	ClinGen gnomAD
rs1333482025 CA366237122	500	M>I		No	ClinGen TOPMed gnomAD
CA366237116 rs1467070592	500	M>R		No	ClinGen TOPMed gnomAD
rs1446100022 CA366237132	501	L>Q		No	ClinGen TOPMed gnomAD
CA4069907 rs749315469	502	L>P		No	ClinGen ExAC gnomAD
rs377290975 CA4069909	504	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs377290975 CA366237197	504	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069910 rs762358770	505	T>M		No	ClinGen ExAC gnomAD
CA150927092 rs931719829	506	A>T		No	ClinGen Ensembl
rs370812713 CA4069912	506	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366238122 rs1340470555	510	T>P		No	ClinGen gnomAD
CA4069929 rs374716140	511	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	511	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1484984772 CA366238178	513	I>M		No	ClinGen TOPMed
CA366238221 rs1286433585	516	A>G		No	ClinGen gnomAD
CA4069930 rs747318468	517	M>T		No	ClinGen ExAC gnomAD
TCGA novel	517	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771397109 CA4069932	519	E>D		No	ClinGen ExAC gnomAD
CA4069933 rs774977682	520	R>C		No	ClinGen ExAC gnomAD
CA4069934 rs528543900	520	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366238283 rs528543900	520	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547054092 CA4069935	521	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs767505170 CA4069938 COSM285517	523	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine stomach [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs61601143 CA4069939	526	N>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1181289370 CA366238417	528	K>R		No	ClinGen gnomAD
rs1441721698 CA366238441	529	R>L		No	ClinGen TOPMed gnomAD
CA366238431 rs1441721698	529	R>Q		No	ClinGen TOPMed gnomAD
rs539018111 CA4069940	529	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151101142 CA4069942	531	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4069941 rs190730684	531	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755150315 CA4069943	532	I>V		No	ClinGen ExAC gnomAD
rs140670406 CA366238501	534	M>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs140670406 CA4069945	534	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4069944 rs141050493	534	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs758526992 CA4069946	535	G>E		No	ClinGen ExAC gnomAD
CA4069949 rs139026643	538	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069950 rs777008228	539	V>M		No	ClinGen ExAC TOPMed gnomAD
CA366238602 rs1427409089	540	N>S		No	ClinGen TOPMed
CA366238609 rs1440987518	541	G>*		No	ClinGen TOPMed gnomAD
CA366238613 rs1345527212	541	G>E		No	ClinGen gnomAD
rs1440987518 CA366238611	541	G>R		No	ClinGen TOPMed gnomAD
rs768358154 CA4069952	544	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA4069953 rs768358154	544	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs771748832 CA4069955	545	F>L		No	ClinGen ExAC gnomAD
CA4069957 rs201993080	546	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA4069956 rs367889806	546	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs558600689 CA4069958	547	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1203085059 CA366238692	548	N>S		No	ClinGen TOPMed
rs1379905982 CA366238698	549	V>M		No	ClinGen TOPMed gnomAD
CA366238715 rs1368343360	550	L>R		No	ClinGen TOPMed
rs150447307 CA150928096	552	T>M		No	ClinGen 1000Genomes TOPMed gnomAD
rs567190284 CA366238743	553	A>E		No	ClinGen ExAC gnomAD
rs567190284 CA4069960	553	A>V		No	ClinGen ExAC gnomAD
CA4069962 rs752979087	556	T>I		No	ClinGen ExAC gnomAD
rs1583449434 CA366238776	557	D>H		No	ClinGen Ensembl
rs1401906599 CA366238789	558	W>*		No	ClinGen gnomAD
rs1254756123 CA366238814	560	L>V		No	ClinGen Ensembl
rs1583449512 CA366238844	561	D>A		No	ClinGen Ensembl
CA4069964 CA366238853 rs777960971	561	D>E		No	ClinGen ExAC TOPMed gnomAD
CA4069963 rs183272327	561	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4069965 rs751616283	562	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA150928140 rs1011358573	562	S>P		No	ClinGen Ensembl
rs1020407563 CA150928173	563	P>H		No	ClinGen TOPMed gnomAD
CA4069967 rs781556364	563	P>S		No	ClinGen ExAC gnomAD
rs149600523 CA4069968	566	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4069971 rs747852087	567	G>R		No	ClinGen ExAC TOPMed gnomAD
CA366238938 rs1583449628	568	A>T		No	ClinGen Ensembl
CA4069973 rs148023347 COSM1075400	570	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs1280411272 CA366238989	571	S>Y		No	ClinGen TOPMed
CA366239002 rs1201508860	572	Q>P		No	ClinGen gnomAD
CA150929757 rs1053635249	573	D>E		No	ClinGen TOPMed
CA4069998 rs775229719	579	D>Y		No	ClinGen ExAC gnomAD
CA4069999 rs762663437	580	I>V		No	ClinGen ExAC gnomAD
rs764322131 CA4070000	584	G>E		No	ClinGen ExAC gnomAD
CA366239493 rs1199545543	587	E>K		No	ClinGen TOPMed
rs556512696 CA150929770	588	M>L		No	ClinGen Ensembl
rs556512696 CA150929769	588	M>V		No	ClinGen Ensembl
CA4070004 rs750552881	592	S>N		No	ClinGen ExAC gnomAD
CA4070007 rs745840620	593	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4070006 rs745840620	593	A>T		No	ClinGen ExAC TOPMed gnomAD
CA4070008 rs755353069	594	G>A		No	ClinGen ExAC gnomAD
rs901079706 CA150929794	596	I>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA366239645 rs1338777530	596	I>V		No	ClinGen gnomAD
CA4070028 rs754366975	601	T>A		No	ClinGen ExAC gnomAD
CA4070030 rs765566402	602	T>A		No	ClinGen ExAC TOPMed gnomAD
rs753131741 CA4070031	603	N>I		No	ClinGen ExAC gnomAD
rs756823424 CA4070032	603	N>K		No	ClinGen ExAC gnomAD
CA366239855 rs1198671483	604	K>R		No	ClinGen gnomAD
CA366239884 rs886359553	606	M>K		No	ClinGen Ensembl
CA150930549 rs886359553	606	M>T		No	ClinGen Ensembl
CA4070033 rs780830322	606	M>V		No	ClinGen ExAC TOPMed gnomAD
rs755679352 CA4070036	607	W>*		No	ClinGen ExAC gnomAD
CA4070035 rs745326416	607	W>R		No	ClinGen ExAC gnomAD
CA4070038 rs749223713	608	G>A		No	ClinGen ExAC gnomAD
CA4070037 rs779963575	608	G>S		No	ClinGen ExAC gnomAD
rs1294307929 CA366239952	610	Q>E		No	ClinGen gnomAD
CA4070039 rs768476966	612	Q>P		No	ClinGen ExAC gnomAD
rs778532316 CA4070040	613	K>R		No	ClinGen ExAC gnomAD
CA150930605 rs377511051	614	A>T		No	ClinGen gnomAD
CA4070041 rs747979746	616	S>L		No	ClinGen ExAC TOPMed gnomAD
COSM129564 rs772360288 CA4070042	617	R>C	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4070043 rs201236063	617	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA366240021 rs201236063	617	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1321388978 CA366240032	618	S>F		No	ClinGen TOPMed
CA4070044 rs373258920	619	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA150930609 rs1016044903	619	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs771170700 CA4070045	620	R>G		No	ClinGen ExAC gnomAD
CA366240050 rs1487419361	620	R>T		No	ClinGen TOPMed gnomAD
CA366240121 rs1303843363 COSM1075401	626	S>L	Variant assessed as Somatic; impact. endometrium breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs752940964 CA4070049	627	A>V		No	ClinGen ExAC gnomAD
CA4070050 rs199647543	628	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs182021107 CA150930656	628	Q>R		No	ClinGen 1000Genomes
rs1457260666 CA366240150	629	L>P		No	ClinGen TOPMed
CA4070051 rs767145022	631	G>D		No	ClinGen ExAC gnomAD
CA4070052 rs144180367	632	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA150930681 rs201303563	633	C>Y		No	ClinGen Ensembl
rs557693932 CA150930687	634	L>P		No	ClinGen 1000Genomes
rs755591103 CA4070053	635	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA4070054 rs779588953	636	I>L		No	ClinGen ExAC TOPMed gnomAD
CA366240223 rs1182799322	637	F>L		No	ClinGen TOPMed
rs747882037 CA4070058	639	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4070059 rs772055760	639	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1249759209 CA366240248	640	P>S		No	ClinGen TOPMed
CA366240256 rs1221491910	641	Y>C		No	ClinGen gnomAD
rs1562379798 CA366240271	643	V>D		No	ClinGen Ensembl
rs369102081 CA150930727	644	P>L		No	ClinGen ESP TOPMed gnomAD
rs1241443422 CA366240284	645	F>S		No	ClinGen gnomAD
CA4070062 rs771297231	646	I>T		No	ClinGen ExAC TOPMed
CA4070061 rs747280098	646	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1452315117 CA366240292	647	R>G		No	ClinGen TOPMed
CA4070090 rs776409601	649	V>I		No	ClinGen ExAC TOPMed gnomAD
CA366240319 rs776409601	649	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1345418126 CA366240326	650	A>D		No	ClinGen gnomAD
CA366240335 rs1220926481	651	I>T		No	ClinGen gnomAD
CA4070092 rs764849827	652	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1258959156 CA366240349	653	T>I		No	ClinGen TOPMed gnomAD
rs1258959156 CA366240348	653	T>R		No	ClinGen TOPMed gnomAD
CA150932566 rs901594228	653	T>S		No	ClinGen TOPMed
rs1366764529 CA366240350	654	V>M		No	ClinGen TOPMed
rs146694394 CA4070093	656	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA150932580 rs978817086	658	M>I		No	ClinGen TOPMed
rs1191854215 CA366240375	658	M>V		No	ClinGen TOPMed
CA4070095 rs764135611 CA150932611	659	G>R		No	ClinGen ExAC gnomAD
rs757135691 CA4070097	660	G>D		No	ClinGen ExAC gnomAD
rs1468846199 CA366240403	662	A>E		No	ClinGen TOPMed gnomAD
rs1468846199 CA366240405	662	A>V		No	ClinGen TOPMed gnomAD
rs368394869 CA150932671	667	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA4070102 rs755941692	668	V>I		No	ClinGen ExAC TOPMed gnomAD
rs1344730316 CA366240444	669	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs370339820 CA150932691	670	I>V		No	ClinGen ESP TOPMed
CA4070104 rs200952490	671	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4070106 rs748505774	671	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4070105 rs748505774	671	R>L		No	ClinGen ExAC TOPMed gnomAD
CA4070107 rs776122672	673	Q>H		No	ClinGen ExAC gnomAD
rs759174520 CA4070109	677	T>A		No	ClinGen ExAC gnomAD
rs149894562 CA4070110	677	T>I		No	ClinGen ESP ExAC gnomAD
CA366240504 rs1384883553	678	S>C		No	ClinGen TOPMed
rs969931475 CA150932730	678	S>N		No	ClinGen Ensembl
CA366240525 rs1398469922	681	F>V		No	ClinGen TOPMed
CA4070112 rs775077958	682	I>M		No	ClinGen ExAC gnomAD
rs1267409089 CA366240540	683	C>G		No	ClinGen gnomAD
rs144950375 CA150932744	683	C>Y		No	ClinGen ESP TOPMed gnomAD
CA4070113 rs762568514	684	S>C		No	ClinGen ExAC TOPMed gnomAD
CA4070114 rs762568514	684	S>G		No	ClinGen ExAC TOPMed gnomAD
CA150932746 rs1002211304	685	H>Q		No	ClinGen Ensembl
rs1034987223 CA150932760	686	L>R		No	ClinGen TOPMed gnomAD
CA4070115 rs149183400	686	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4070117 rs767395214	687	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1450254888 CA366240588	688	A>P		No	ClinGen TOPMed
CA366240599 rs140731520 CA4070120	689	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA150932776 rs868803360	691	S>Y		No	ClinGen Ensembl
CA366240639 rs1200898132	693	V>M		No	ClinGen Ensembl
CA150932778 rs145636503	694	K>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs145636503 CA4070121	694	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4070123 rs779360490	696	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs755117434 CA4070122	696	R>W		No	ClinGen ExAC gnomAD
CA150932825 rs984895797	700	Y>C		No	ClinGen TOPMed gnomAD
rs910813419 CA4070125	701	K>E		No	ClinGen Ensembl
CA366240752 rs1357259773	703	I>V		No	ClinGen gnomAD
rs200810101 CA4070127	704	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA150932870 rs922956765	706	K>Q		No	ClinGen TOPMed
rs151046990 CA4070129	707	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1264477140 CA366240812	708	C>Y		No	ClinGen gnomAD
CA366240824 rs1444788912	709	F>S		No	ClinGen gnomAD
rs1329346927 CA366240834	710	P>S		No	ClinGen TOPMed
rs1473550407 CA366240846	711	M>K		No	ClinGen gnomAD
rs1368704026 CA366240843	711	M>V		No	ClinGen gnomAD
CA4070150 rs140940655	712	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA366241411 rs140940655	712	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA366241425 rs1239015478	714	N>H		No	ClinGen gnomAD
rs1437082431	717	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs866552975 CA150938119	718	H>R		No	ClinGen Ensembl
CA366241489 rs1257081505	719	D>V		No	ClinGen gnomAD
CA4070151 rs768445873	721	V>I		No	ClinGen ExAC gnomAD
rs768445873 CA150938147	721	V>L		No	ClinGen ExAC gnomAD
rs1262134908 CA366241537	723	W>*		No	ClinGen gnomAD
COSM740261 CA366241549 rs1412269826	724	C>F	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs200377876 CA4070153 COSM1228266	726	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs773089199 CA4070155	728	N>K		No	ClinGen ExAC gnomAD
CA4070154 rs772032469	728	N>S		No	ClinGen ExAC gnomAD
CA366241604 rs1583469377	729	Y>S		No	ClinGen Ensembl
rs760486822 CA4070156	730	R>C		No	ClinGen ExAC TOPMed gnomAD
COSM1228268 CA366241615 rs1424035186	730	R>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1424035186 CA366241618	730	R>L		No	ClinGen TOPMed gnomAD
CA4070158 rs776430082	731	I>T		No	ClinGen ExAC gnomAD
CA4070157 rs766210345	731	I>V		No	ClinGen ExAC gnomAD
TCGA novel CA366241628 rs1583469430	732	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs759711239 CA4070159	735	Y>S		No	ClinGen ExAC gnomAD
rs1466369888 CA366241689	737	E>V		No	ClinGen gnomAD
CA4070162 rs758468690	738	V>A		No	ClinGen ExAC TOPMed gnomAD
rs369700198 CA4070161	738	V>F		No	ClinGen ESP ExAC gnomAD
TCGA novel	739	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs977819857 CA150938270	740	Y>C		No	ClinGen Ensembl
CA4070164 rs373635531	741	F>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366241727 rs1583469515	741	F>L		No	ClinGen Ensembl
CA366241745 rs1303825687	742	V>A		No	ClinGen gnomAD
rs757678495 CA4070165	744	R>C		No	ClinGen ExAC TOPMed gnomAD
rs781649992 CA4070166	744	R>H		No	ClinGen ExAC gnomAD
rs754612804 CA4070168	745	Q>R		No	ClinGen ExAC gnomAD
rs571120662 CA4070169	748	K>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1249254535 CA366241817	749	K>E		No	ClinGen gnomAD
CA366241829 rs1199941493	750	L>F		No	ClinGen TOPMed
rs1199941493 CA366241831	750	L>I		No	ClinGen TOPMed
rs1262693735 CA366241852	752	E>A		No	ClinGen TOPMed
rs747688900 CA4070170	753	F>L		No	ClinGen ExAC gnomAD
CA150938345 rs150206814	754	D>N		No	ClinGen ESP TOPMed
CA366241886 rs1335431975	755	Q>*		No	ClinGen TOPMed
CA4070171 rs138821296	756	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4070172 rs773179653	759	Q>R		No	ClinGen ExAC gnomAD
rs936503808 CA150938386	761	S>P		No	ClinGen Ensembl
CA4070173 rs746899141	762	S>N		No	ClinGen ExAC gnomAD
rs1428747998 CA366241964	762	S>R		No	ClinGen gnomAD
rs1172895735 CA366241983	764	K>R		No	ClinGen gnomAD
CA366242471 rs1446838167	765	I>T		No	ClinGen TOPMed
CA366242484 rs1282627412	766	F>C		No	ClinGen TOPMed
CA366242509 rs146014706	768	D>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA150940059 rs146014706	768	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4070193 rs146014706	768	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA366242529 rs1244890085	770	H>D		No	ClinGen gnomAD
CA4070195 rs769519988	771	E>G		No	ClinGen ExAC TOPMed gnomAD
CA150940066 rs951729369	771	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA366242564 rs1243212042	773	A>P		No	ClinGen TOPMed
rs1485577118 CA366242572	773	A>V		No	ClinGen gnomAD
rs763040548 CA4070198	775	N>S		No	ClinGen ExAC gnomAD
rs867216443 CA150940097	776	F>L		No	ClinGen Ensembl
CA4070199 rs768955220	776	F>L		No	ClinGen ExAC gnomAD
rs1343849932 CA366242620	778	P>S		No	ClinGen TOPMed
CA4070200 rs774506011	779	T>I		No	ClinGen ExAC gnomAD
CA4070201 rs774506011	779	T>N		No	ClinGen ExAC gnomAD
CA366242626 rs1583475026	779	T>P		No	ClinGen Ensembl
CA366242645 rs1409389706	780	Y>C		No	ClinGen gnomAD
rs138927100 CA4070204	783	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA4070205 rs142937613	784	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs199595114 CA366242729	788	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4070208 rs199595114	788	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4070210 rs756823954 COSM1698230	790	D>N	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA366242786 rs141642680	792	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs769796714 CA4070213	793	D>N		No	ClinGen ExAC gnomAD
rs542740914 CA4070215	795	C>G		No	ClinGen 1000Genomes ExAC gnomAD
rs542740914 CA4070214	795	C>R		No	ClinGen 1000Genomes ExAC gnomAD
CA4070216 COSM273319 rs768704530	796	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA4070217 rs774773792	796	R>H		No	ClinGen ExAC TOPMed gnomAD
rs761951261 CA4070218	797	T>P		No	ClinGen ExAC
CA4070219 rs761787048	798	P>H		No	ClinGen ExAC TOPMed gnomAD
CA150940261 rs761787048	798	P>L		No	ClinGen ExAC TOPMed gnomAD
CA366242848 rs766909086	799	A>P		No	ClinGen ExAC gnomAD
rs766909086 CA4070222	799	A>T		No	ClinGen ExAC gnomAD
CA366242852 rs1407813083	799	A>V		No	ClinGen gnomAD
CA366242871 rs1480487386	801	T>A		No	ClinGen gnomAD
CA366242875 rs1177909178	801	T>R		No	ClinGen gnomAD
rs1167481937 CA366242905	804	V>L		No	ClinGen gnomAD
rs1469006521 CA366242917	805	L>P		No	ClinGen gnomAD
TCGA novel	810	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1337058589 CA366243004	812	P>L		No	ClinGen TOPMed
TCGA novel	812	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4070225 rs749102058	816	T>I		No	ClinGen ExAC TOPMed gnomAD
CA150941438 rs895530538	818	G>E		No	ClinGen TOPMed gnomAD
TCGA novel	819	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1364827172 CA366243167	819	E>G		No	ClinGen gnomAD
rs1386308726 CA366243189	821	N>S		No	ClinGen gnomAD
CA4070260 rs746340452	824	D>G		No	ClinGen ExAC TOPMed gnomAD
CA150941468 rs773951537	825	S>G		No	ClinGen Ensembl
CA4070261 rs770320803	828	D>E		No	ClinGen ExAC TOPMed gnomAD
rs763322041 CA4070263	830	D>N		No	ClinGen ExAC TOPMed
rs1261627214 CA366243303	831	T>I		No	ClinGen TOPMed gnomAD
rs1261627214 CA366243301	831	T>S		No	ClinGen TOPMed gnomAD
rs1005450751 CA150941502	832	K>E		No	ClinGen Ensembl
CA366243313 rs1296437772	832	K>N		No	ClinGen TOPMed
CA4070264 rs150526454	833	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs150526454 CA4070265	833	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs765863217 CA4070267	835	H>D		No	ClinGen ExAC gnomAD
rs569419633 CA4070268	836	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA366243343 rs1163015921	836	T>P		No	ClinGen TOPMed
CA4070270 rs765278443	841	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1444761926 CA366243379	841	A>V		No	ClinGen gnomAD
rs747301950 CA4070274	842	L>P		No	ClinGen ExAC gnomAD
rs758332483 CA4070273	842	L>V		No	ClinGen ExAC gnomAD
CA150941597 rs781295476	843	Q>*		No	ClinGen ExAC gnomAD
CA4070276 rs781295476	843	Q>K		No	ClinGen ExAC gnomAD
CA366243386 rs1454285638	843	Q>R		No	ClinGen gnomAD
CA4070278 rs770228724	847	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs536966273 CA4070279	847	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs749650634 CA4070280	848	A>V		No	ClinGen ExAC TOPMed gnomAD
rs774599283 CA4070282	849	E>V		No	ClinGen ExAC gnomAD
rs770493097 CA4070285	851	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1338413675 CA366243442	852	A>E		No	ClinGen TOPMed
RCV000209855 rs869312665 CA354935	853	S>P		No	ClinGen ClinVar Ensembl dbSNP
CA4070287 rs765257801	854	D>H		No	ClinGen ExAC gnomAD
rs765257801 CA366243450	854	D>Y		No	ClinGen ExAC gnomAD
TCGA novel	857	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366243491 rs1323232608	858	V>M		No	ClinGen gnomAD
CA366243504 rs902197436	860	A>G		No	ClinGen TOPMed gnomAD
rs1394748576 CA366243500	860	A>T		No	ClinGen gnomAD
CA150943223 rs902197436	860	A>V		No	ClinGen TOPMed gnomAD
rs780065695 CA4070316	862	V>M		No	ClinGen ExAC TOPMed gnomAD
CA150943241 rs139752657	866	V>I		No	ClinGen ESP TOPMed
CA4070317 rs753917038	869	V>I		No	ClinGen ExAC gnomAD
rs779342553 COSM1698231 CA4070319	870	D>N	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs779342553 CA4070320	870	D>Y		No	ClinGen ExAC gnomAD
rs1249451988 CA366243573	871	V>M		No	ClinGen gnomAD
CA4070323 rs541233932	874	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs541233932 CA4070324	874	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4070322 rs145408972 COSM1754622	874	R>W	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs866287180 CA150943275	875	E>*		No	ClinGen Ensembl
rs1583488566 CA366243610	877	V>G		No	ClinGen Ensembl
rs369254348 CA4070327	879	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs184254046 CA4070329	881	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs184254046 CA150943288	881	V>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4070328 rs774224719	881	V>L		No	ClinGen ExAC TOPMed gnomAD
CA366243651 rs1164779941	884	F>V		No	ClinGen gnomAD
TCGA novel	890	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366243698 rs1433712631	891	T>S		No	ClinGen gnomAD
rs773014961 CA4070331	892	V>I		No	ClinGen ExAC gnomAD
rs1383618855 CA366243710	893	V>I		No	ClinGen gnomAD
rs1292987442 CA366243716	894	V>I		No	ClinGen gnomAD
rs1374624397 CA366243747	896	L>R		No	ClinGen TOPMed
CA4070332 rs760817255	897	Q>K		No	ClinGen ExAC gnomAD
CA4070334 rs753898543	898	S>L		No	ClinGen ExAC gnomAD
CA4070335 rs199914000	899	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1402355692 CA366243773	899	P>S		No	ClinGen TOPMed
CA150943316 rs973105145	900	T>N		No	ClinGen gnomAD
CA366243820 rs1469637117	903	E>D		No	ClinGen TOPMed
CA4070337 rs143255940	904	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA366243848 rs1246348597	906	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1449257927 CA366243863	907	F>L		No	ClinGen gnomAD
rs1475680209 CA366243908	910	D>E		No	ClinGen TOPMed
rs1387433819 CA366243918	911	L>R		No	ClinGen gnomAD
rs766155271 CA150943345	912	R>C		No	ClinGen TOPMed
CA4070340 COSM1441851 rs151268691	912	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA366243926 rs151268691	912	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA4070341 rs151268691	912	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs779912525 CA4070342	913	T>A		No	ClinGen ExAC gnomAD
CA4070346 rs747989144	915	L>V		No	ClinGen ExAC gnomAD
rs1453147975 CA366243973	916	M>I		No	ClinGen gnomAD
CA366243966 rs1300852216	916	M>T		No	ClinGen TOPMed gnomAD
rs752714124 CA150943388	917	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs766578940 CA4070350	920	G>E		No	ClinGen ExAC gnomAD
rs1583489044 CA366244035	922	Y>H		No	ClinGen Ensembl
CA4070352 rs759638647	923	G>R		No	ClinGen ExAC gnomAD
rs985655312 CA150943416	925	I>V		No	ClinGen Ensembl
CA150943424 rs1038003558	926	V>F		No	ClinGen TOPMed
rs1285582500 CA366244088	927	L>F		No	ClinGen gnomAD
rs758766618 CA4070355	927	L>H		No	ClinGen ExAC TOPMed gnomAD
CA150943435 rs944165757	928	V>L		No	ClinGen TOPMed
CA366244107 rs764712194	929	R>K		No	ClinGen ExAC gnomAD
CA4070356 rs764712194	929	R>T		No	ClinGen ExAC gnomAD
CA366244148 rs1480478206	930	I>N		No	ClinGen gnomAD
rs1480478206 CA366244149	930	I>S		No	ClinGen gnomAD
CA366244166 rs1417093630	932	Q>K		No	ClinGen TOPMed gnomAD
CA366244180 rs1373020889	933	G>R		No	ClinGen TOPMed
rs1326504290 CA366244204	935	M>L		No	ClinGen TOPMed
rs575125867 CA4070379	938	T>I		No	ClinGen 1000Genomes ExAC
rs778682179 CA4070380	940	A>V		No	ClinGen ExAC gnomAD
CA366244276 rs1158198126	941	D>E		No	ClinGen gnomAD
rs531752692 CA366244271	941	D>G		No	ClinGen TOPMed gnomAD
rs531752692 CA150943558	941	D>V		No	ClinGen TOPMed gnomAD
rs758373037 CA4070381	944	S>L		No	ClinGen ExAC TOPMed gnomAD
rs777664526 CA4070383	945	A>T		No	ClinGen ExAC gnomAD
rs988565941 CA150943578	946	L>I		No	ClinGen TOPMed
rs796386969 CA150943586	949	L>V		No	ClinGen Ensembl
CA4070385 rs150369649	951	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA366244384 rs1161103677	952	D>Y		No	ClinGen gnomAD
CA4070387 rs370402501	953	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs555598504 CA4070389	953	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs370402501 CA4070388	953	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA366244399 rs555598504	953	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA4070391 rs768909637	954	M>V		No	ClinGen ExAC gnomAD
CA4070408 rs749476483	956	V>A		No	ClinGen ExAC gnomAD
rs138094772 CA4070410	965	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs866558788 CA150944985	968	K>E		No	ClinGen Ensembl
CA366244545 rs1161381020	971	L>P		No	ClinGen gnomAD
CA4070413 rs772450786	972	K>E		No	ClinGen ExAC TOPMed gnomAD
CA150945004 rs772450786	972	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA4070414 rs201799213	975	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs368434138 CA4070415	975	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA366244580 rs1293033763	977	E>A		No	ClinGen TOPMed
CA366244578 rs1441464135	977	E>Q		No	ClinGen gnomAD
rs1297380714 CA366244587	978	I>F		No	ClinGen TOPMed gnomAD
CA4070418 rs372771013	980	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1187204 rs777010951 CA4070417	980	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs151009377 CA4070419	982	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs151009377 CA150945052	982	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs183505020 CA4070420	982	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756860929 CA4070421	983	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA4070422 rs78746658	984	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	985	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366244629 rs1425334905	985	M>T		No	ClinGen gnomAD
CA4070423 rs750424606	985	M>V		No	ClinGen ExAC gnomAD
rs756032117 CA4070424	986	A>D		No	ClinGen ExAC TOPMed gnomAD
CA366244634 rs1368023037	986	A>T		No	ClinGen TOPMed
CA366244641 rs1367768215	987	P>S		No	ClinGen gnomAD
rs779341189 CA4070428	988	V>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4070427 CA4070426 rs143886244	988	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs143886244 CA4070425	988	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA4070429 rs748204431	989	S>F		No	ClinGen ExAC gnomAD
rs1169197845 CA366244656	990	P>R		No	ClinGen TOPMed
CA366244660 rs1320136399	991	T>S		No	ClinGen gnomAD
rs1407303086 CA366244666	992	A>S		No	ClinGen gnomAD
CA4070430 rs772238958	993	N>I		No	ClinGen ExAC TOPMed gnomAD
CA366244673 rs772238958	993	N>T		No	ClinGen ExAC TOPMed gnomAD
CA366244681 rs1332797229	994	S>C		No	ClinGen gnomAD
CA4070432 rs747509703	996	L>W		No	ClinGen ExAC gnomAD
rs1435071966 CA366244739	1002	D>G		No	ClinGen TOPMed
rs1562399062 CA366244755	1004	T>I		No	ClinGen Ensembl
rs1227477948 CA366244758	1005	S>C		No	ClinGen gnomAD
rs1484122163 CA366244777	1007	D>E		No	ClinGen gnomAD
CA4070434 rs776920911	1010	S>*		No	ClinGen ExAC gnomAD
TCGA novel	1011	E>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1012	G>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4070451 rs747071191	1012	G>E		No	ClinGen ExAC gnomAD
CA366244829 rs1181499830	1013	D>G		No	ClinGen gnomAD
CA150945444 rs1016317958	1015	L>P		No	ClinGen Ensembl
CA4070452 rs771454251	1018	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	1019	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4070453 rs781715340	1019	E>K		No	ClinGen ExAC gnomAD
CA4070454 rs746202119	1020	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1197006449 CA366244875	1020	D>N		No	ClinGen gnomAD
CA366244886 rs1430728981	1021	Y>C		No	ClinGen gnomAD
rs1171052865 CA366244896	1022	L>F		No	ClinGen gnomAD
CA4070455 rs770193875	1023	V>M		No	ClinGen ExAC TOPMed gnomAD
rs761490159 CA4070457	1024	D>G		No	ClinGen ExAC TOPMed gnomAD
CA4070456 rs139862615	1024	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1309321862 CA366244919	1026	F>Y		No	ClinGen TOPMed
CA366244928 rs1369076213	1027	N>S		No	ClinGen TOPMed gnomAD
CA366244939 rs771631576	1028	Q>H		No	ClinGen ExAC gnomAD
rs772723028 CA4070460	1029	P>S		No	ClinGen ExAC TOPMed gnomAD
COSM4006186 rs201766381 CA4070462	1032	S>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1349292696 CA366244965	1033	D>G		No	ClinGen Ensembl
CA366244971 rs1223106162	1034	S>G		No	ClinGen gnomAD
rs1345316969 CA366244988	1036	L>F		No	ClinGen TOPMed
CA366244992 CA4070465 rs61743913	1037	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366245000 rs1336598453	1038	G>E		No	ClinGen gnomAD
rs1208293514 CA366244997	1038	G>R		No	ClinGen gnomAD
rs912901141 CA150945517	1039	D>G		No	ClinGen Ensembl
CA4070467 rs142934174	1040	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1190865182 CA366245019	1041	L>F		No	ClinGen gnomAD
rs61756208 CA4070469	1046	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA150945540 rs61756208	1046	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs61743922 CA150945557	1048	T>I		No	ClinGen ExAC TOPMed gnomAD
rs61743922 CA4070470	1048	T>K		No	ClinGen ExAC TOPMed gnomAD
CA4070471 rs757369036	1052	P>S		No	ClinGen ExAC TOPMed gnomAD
rs781649822 CA4070472	1053	P>H		No	ClinGen ExAC
CA4070473 rs746326562	1054	S>G		No	ClinGen ExAC gnomAD
rs1295191982 CA366245092	1054	S>I		No	ClinGen TOPMed gnomAD
rs1295191982 CA366245094	1054	S>N		No	ClinGen TOPMed gnomAD
rs1364177489 CA366245119	1058	A>S		No	ClinGen TOPMed gnomAD
CA4070474 rs749562600	1059	L>V		No	ClinGen ExAC TOPMed gnomAD
CA4070475 rs61745222	1060	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1323598218 CA366245147	1062	K>N		No	ClinGen gnomAD
CA4070476 rs749632069	1063	K>Q		No	ClinGen ExAC gnomAD
rs771744627 CA4070477	1064	Q>E		No	ClinGen ExAC gnomAD
TCGA novel	1066	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1281707405 CA366245178	1067	T>A		No	ClinGen TOPMed
CA4070479 rs140015862	1067	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs371440879 CA4070481	1068	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1431615287 CA366245213	1070	D>G		No	ClinGen gnomAD
CA4070507 rs567451101	1071	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200417174 CA366245226	1072	A>E		No	ClinGen 1000Genomes TOPMed
rs201667755 CA4070509	1072	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200417174 CA4070510	1072	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA TOPMed
rs1282391355 CA366245239	1074	L>P		No	ClinGen TOPMed gnomAD
CA366245242 rs61747269	1075	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4070513 rs61747269	1075	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs558954054 CA150947245	1076	E>D		No	ClinGen Ensembl
CA366245246 rs1179339385	1076	E>K		No	ClinGen gnomAD
rs754246337 CA4070514	1077	L>F		No	ClinGen ExAC gnomAD
CA4070515 rs61747264	1079	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366245267 rs1192562425	1079	R>W		No	ClinGen gnomAD
CA4070517 rs141289545	1080	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779078120 CA4070516	1080	E>K		No	ClinGen ExAC gnomAD
CA4070518 rs756955455	1082	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1306308637 CA366245296	1084	V>F		No	ClinGen TOPMed gnomAD
rs1306308637 CA366245294	1084	V>I		No	ClinGen TOPMed gnomAD
CA4070520 rs745339924	1085	G>R		No	ClinGen ExAC TOPMed gnomAD
CA366245307 rs1276764372	1086	E>*		No	ClinGen gnomAD
rs13437138 CA150947291	1086	E>G		No	ClinGen Ensembl
CA366245316 rs1264759144	1087	F>S		No	ClinGen TOPMed gnomAD
CA366245317 rs1264759144	1087	F>Y		No	ClinGen TOPMed gnomAD
CA4070521 rs769238000	1088	R>H		No	ClinGen ExAC TOPMed gnomAD
CA4070523 rs749142831	1089	H>R		No	ClinGen ExAC gnomAD
CA4070522 rs779638952	1089	H>Y		No	ClinGen ExAC gnomAD
rs1344989785 CA366245331	1090	R>C		No	ClinGen gnomAD
CA4070524 rs141300011	1090	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
TCGA novel	1091	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs915064236 CA150947320	1092	P>S		No	ClinGen TOPMed gnomAD
CA366245357 rs1394701548	1094	R>K		No	ClinGen TOPMed
rs1244565397 CA366245363	1095	S>P		No	ClinGen gnomAD
TCGA novel	1096	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1477591089 CA366245378	1097	S>W		No	ClinGen gnomAD
CA4070526 rs761657265	1099	P>S		No	ClinGen ExAC gnomAD
CA4070527 rs772281154	1100	N>K		No	ClinGen ExAC TOPMed gnomAD
CA366245394 rs1459260549	1100	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4070529 rs760905319	1101	R>P		No	ClinGen ExAC TOPMed gnomAD
CA366245398 rs760905319	1101	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs773467066 CA4070528	1101	R>W		No	ClinGen ExAC TOPMed gnomAD
rs377245636 CA4070532	1102	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs377245636 CA4070531	1102	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1346601633 CA366245400	1102	P>S		No	ClinGen TOPMed
CA366245407 rs765829961	1103	R>P		No	ClinGen ExAC TOPMed gnomAD
CA4070533 rs765829961	1103	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA366245405 rs1440409449	1103	R>W		No	ClinGen TOPMed gnomAD
rs1226933093 CA366245412	1104	P>L		No	ClinGen gnomAD
CA150947374 rs938688214	1104	P>S		No	ClinGen Ensembl
rs1270063484 CA366245415	1105	P>A		No	ClinGen gnomAD
CA4070534 rs753104397	1105	P>L		No	ClinGen ExAC gnomAD
rs370692122 CA150947382	1106	Q>*		No	ClinGen ESP
rs1229490386 CA366245431	1107	P>T		No	ClinGen gnomAD
rs555682578 CA150947397	1108	P>L		No	ClinGen 1000Genomes TOPMed gnomAD
rs148053948 CA4070535	1108	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366245470 rs1374854420	1110	R>S		No	ClinGen TOPMed
rs1249728086 CA366245476	1111	P>A		No	ClinGen TOPMed gnomAD
CA366245479 rs1583505921	1111	P>R		No	ClinGen Ensembl
CA366245474 rs1249728086	1111	P>T		No	ClinGen TOPMed gnomAD
rs541615722 CA4070541	1112	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4070542 rs140906779	1112	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA4070543 rs140906779	1112	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs61748684 CA150947482	1113	P>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61748684 CA4070548	1113	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs61748684 CA4070547	1113	P>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs776559046 CA366245514	1115	T>A		No	ClinGen ExAC TOPMed gnomAD
rs776559046 CA4070551	1115	T>P		No	ClinGen ExAC TOPMed gnomAD
rs769945195 CA4070571	1116	G>D		No	ClinGen ExAC gnomAD
rs776950886 CA4070569	1116	G>R		No	ClinGen ExAC TOPMed gnomAD
rs776950886 CA4070570	1116	G>S		No	ClinGen ExAC TOPMed gnomAD
rs912602378 CA150948612	1117	L>S		No	ClinGen TOPMed
CA366245910 rs1182942420	1118	M>I		No	ClinGen TOPMed gnomAD
rs1485401059 CA366245900	1118	M>L		No	ClinGen gnomAD
rs138506800 CA366245913	1119	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs138506800 CA4070572	1119	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366245922 rs1321139662	1120	K>E		No	ClinGen TOPMed
CA150948615 rs992417437	1122	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs764713952 CA4070574	1123	A>V		No	ClinGen ExAC TOPMed gnomAD
rs931154764 CA366245968	1124	S>*		No	ClinGen TOPMed gnomAD
CA150948621 rs931154764	1124	S>L		No	ClinGen TOPMed gnomAD
CA366245976 rs1562406315	1125	D>G		No	ClinGen Ensembl
rs928980299 CA150948628	1126	A>V		No	ClinGen TOPMed gnomAD
CA150948652 rs745333200	1127	S>F		No	ClinGen Ensembl
rs1309371920 CA366246018	1130	S>P		No	ClinGen gnomAD
CA4070578 rs771512849	1131	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1440843768 CA366246062	1134	G>E		No	ClinGen gnomAD
CA366246067 rs1332626429	1135	Q>*		No	ClinGen gnomAD
CA366246071 rs1436404773	1135	Q>R		No	ClinGen TOPMed
rs1347559461 CA366246088	1136	Y>*		No	ClinGen TOPMed
CA366246098 rs1171937872	1137	S>*		No	ClinGen TOPMed
CA4070580 rs138417208	1138	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752212604 CA4070581	1141	T>M	Variant assessed as Somatic; 4.634e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4070584 rs187927856	1144	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs746063991 CA4070587	1149	P>L		No	ClinGen ExAC gnomAD
CA4070586 rs780870423	1149	P>S		No	ClinGen ExAC gnomAD
rs1267810475 CA366246226	1150	Q>R		No	ClinGen TOPMed
CA366246253 rs1435308156	1152	P>L		No	ClinGen TOPMed gnomAD
CA366246313 rs1170243114	1153	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA4070605 rs750200037	1153	P>S		No	ClinGen ExAC TOPMed gnomAD
CA4070607 rs780491932	1154	K>E		No	ClinGen ExAC gnomAD
rs888666033 CA150949181	1155	A>D		No	ClinGen TOPMed gnomAD
CA4070608 rs749349982	1155	A>T		No	ClinGen ExAC gnomAD
rs888666033 CA366246333	1155	A>V		No	ClinGen TOPMed gnomAD
rs768909311 CA4070609	1156	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1357992410 CA366246337	1156	R>W		No	ClinGen TOPMed gnomAD
CA4070611 rs748652406	1158	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1222483796 CA366246363	1159	I>V		No	ClinGen TOPMed
rs772466864 CA4070612	1160	S>G		No	ClinGen ExAC gnomAD
CA4070613 rs773609518	1160	S>N		No	ClinGen ExAC gnomAD
CA366246375 rs772466864	1160	S>R		No	ClinGen ExAC gnomAD
CA366246394 rs1583515351	1161	K>N		No	ClinGen Ensembl
CA4070614 rs761091196	1162	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1583515361 CA366246399	1162	P>S		No	ClinGen Ensembl
rs1485857719 CA366246418	1164	N>H		No	ClinGen gnomAD
rs367810276 CA150949198	1165	V>I		No	ClinGen ESP
CA366246449 rs1182940541	1166	K>N		No	ClinGen TOPMed gnomAD
rs372165447 CA4070616	1167	Q>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA150949203 rs1014332934	1168	I>V		No	ClinGen TOPMed
CA4070617 COSM285518 rs762615484	1170	T>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1583515498 CA366246487	1170	T>P		No	ClinGen Ensembl
rs1213290680 CA366246493	1171	T>A		No	ClinGen TOPMed
CA150949208 rs1024305321	1172	N>S		No	ClinGen TOPMed gnomAD
rs763619274 CA4070618	1176	A>V		No	ClinGen ExAC gnomAD
rs751036988 CA4070619	1177	E>K		No	ClinGen ExAC gnomAD
rs376847776 CA4070620	1178	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA4070621 rs767414165	1179	A>E		No	ClinGen ExAC gnomAD
rs1304449775 CA366246580	1180	I>V		No	ClinGen gnomAD
rs750230285 CA4070623	1181	R>G		No	ClinGen ExAC TOPMed gnomAD
rs61756209 CA4070624	1181	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs750230285 CA4070622	1181	R>W		No	ClinGen ExAC TOPMed gnomAD
CA4070626 rs754068813	1182	C>G		No	ClinGen ExAC gnomAD
CA4070625 rs754068813	1182	C>R		No	ClinGen ExAC gnomAD
TCGA novel	1185	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4070627 rs148794986	1186	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1316627653 CA366246654	1188	G>R		No	ClinGen gnomAD
CA4070645 rs267600876	1192	E>K		No	ClinGen ExAC gnomAD
CA366250058 rs1269233473	1193	E>G		No	ClinGen gnomAD
CA4070646 rs765441595	1195	L>R		No	ClinGen ExAC
CA366250075 rs1210781149	1196	S>I		No	ClinGen TOPMed gnomAD
rs752788300 CA4070647	1196	S>R		No	ClinGen ExAC gnomAD
rs1389031130 CA366250084	1197	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs142695147 CA4070649	1198	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751190012 CA366250091	1199	A>S		No	ClinGen TOPMed gnomAD
rs751190012 CA150894084	1199	A>T		No	ClinGen TOPMed gnomAD
CA150894089 rs867890977	1200	P>S		No	ClinGen Ensembl
rs1192748931 CA366250100	1201	R>G		No	ClinGen TOPMed gnomAD
rs1393016255 CA366250108	1202	D>N		No	ClinGen gnomAD
CA366250119 rs1453787933	1203	L>P		No	ClinGen gnomAD
rs747473553 CA4070650	1206	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1206	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366250135 rs1390877115	1206	S>T		No	ClinGen gnomAD
rs1433574485 CA366250142	1207	S>T		No	ClinGen TOPMed
CA366250152 rs1583526047	1208	E>D		No	ClinGen Ensembl
rs768754078 CA4070652	1209	P>VPA*		No	ClinGen ExAC
CA366250163 rs1266534164	1210	E>A		No	ClinGen TOPMed
rs558068783 CA4070653	1211	P>A		No	ClinGen 1000Genomes ExAC gnomAD
CA366250178 rs1437428162	1212	T>I		No	ClinGen gnomAD
rs1469505377 CA366250173	1212	T>P		No	ClinGen Ensembl
CA4070655 rs746290137	1213	P>A		No	ClinGen ExAC TOPMed gnomAD
CA4070656 rs139844496	1213	P>L		No	ClinGen 1000Genomes ESP TOPMed gnomAD
rs139844496 CA4070657	1213	P>Q		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA366250181 rs139844496	1213	P>R		No	ClinGen 1000Genomes ESP TOPMed gnomAD
TCGA novel	1214	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1240621690 CA366250192	1215	A>G		No	ClinGen Ensembl
TCGA novel	1219	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4070662 rs771437341	1219	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1271646631 CA366250223	1220	T>A		No	ClinGen gnomAD
CA4070663 rs772883851	1221	P>S		No	ClinGen ExAC gnomAD
CA4070664 rs760626351	1222	Q>H		No	ClinGen ExAC gnomAD
CA4070665 rs766478029	1223	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4070668 rs369110258	1224	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	1225	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs147690185 CA150894258	1225	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs147690185 CA4070670	1225	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA4070671 rs142460538	1226	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs761465339	1226	L>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA366250253 rs142460538	1226	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1393802921 CA366250259	1227	L>V		No	ClinGen TOPMed
rs1156811180 CA366250270	1229	R>C		No	ClinGen Ensembl
rs764093717 CA4070672	1229	R>H		No	ClinGen ExAC TOPMed gnomAD
rs570177970 CA366250275	1230	R>G		No	ClinGen ExAC TOPMed gnomAD
rs544005647 CA4070675	1230	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4070674 rs544005647	1230	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4070673 rs570177970	1230	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4070677 rs555547760	1231	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs771695279	1232	P>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs780492602 CA4070679	1232	P>L		No	ClinGen ExAC gnomAD
rs747718685 CA4070680	1233	P>S		No	ClinGen ExAC gnomAD
CA4070681 rs373825080	1235	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA366250306 rs1179263694	1236	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA366250317 rs1172518021	1238	I>V		No	ClinGen gnomAD
CA4070683 rs772794278	1242	T>A		No	ClinGen ExAC gnomAD
rs1234757510 CA366250346	1242	T>N		No	ClinGen gnomAD
CA4070682 rs772794278	1242	T>P		No	ClinGen ExAC gnomAD
rs770957876 CA4070684	1243	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA4070685 rs776755766	1245	R>M		No	ClinGen ExAC gnomAD
CA366250372 rs1457385933	1246	T>I		No	ClinGen TOPMed
CA4070686 rs759538513	1246	T>P		No	ClinGen ExAC gnomAD
CA366250385 rs1271095187	1248	K>N		No	ClinGen TOPMed
rs772150502 CA4070745	1249	P>L		No	ClinGen ExAC gnomAD
CA4070748 rs565579056 COSM1228265	1252	P>L	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs945359262 CA150896625	1252	P>S		No	ClinGen TOPMed gnomAD
TCGA novel	1255	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1383795682 CA366250438	1255	Q>R		No	ClinGen gnomAD
rs1297827126 CA366250448	1256	F>L		No	ClinGen gnomAD
CA4070750 rs149087901	1259	Q>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA366250480 rs1418384040	1261	V>L		No	ClinGen TOPMed
rs1227043682 CA366250490	1262	H>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA366250495 rs1274018957	1263	F>V		No	ClinGen gnomAD
rs1055319536 CA150896640	1265	I>V		No	ClinGen TOPMed
CA4070753 rs765894767	1266	G>E		No	ClinGen ExAC gnomAD
rs377560882 CA4070752	1266	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1188734478 CA366250518	1267	P>A		No	ClinGen TOPMed gnomAD
CA150896647 rs1054058282	1267	P>L		No	ClinGen TOPMed gnomAD
CA366250521 rs1054058282	1267	P>R		No	ClinGen TOPMed gnomAD
rs1188734478 CA366250517	1267	P>S		No	ClinGen TOPMed gnomAD
CA4070755 rs143159477	1268	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA366250524 rs1427392698	1268	P>S		No	ClinGen TOPMed gnomAD
rs750033859 CA4070757	1269	E>G		No	ClinGen ExAC gnomAD
rs760287336 CA366250543	1271	S>I		No	ClinGen ExAC TOPMed gnomAD
CA4070759 rs760287336	1271	S>N		No	ClinGen ExAC TOPMed gnomAD
CA4070758 rs760287336	1271	S>T		No	ClinGen ExAC TOPMed gnomAD
rs371122643 CA4070763	1272	V>A		No	ClinGen ESP ExAC gnomAD
rs754883657 CA4070762	1272	V>F		No	ClinGen ExAC TOPMed gnomAD
CA4070761 rs754883657	1272	V>I		No	ClinGen ExAC TOPMed gnomAD
rs754883657 CA366250546	1272	V>L		No	ClinGen ExAC TOPMed gnomAD
rs758157941 CA4070766	1274	A>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1274	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4070768 rs747216181	1275	P>L		No	ClinGen ExAC gnomAD
rs771081928 CA4070769	1276	P>L		No	ClinGen ExAC gnomAD
CA150896725 rs375001218	1276	P>T		No	ClinGen ESP
CA366250577 rs199955411	1278	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA4070770 rs199955411	1278	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	1280	A>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4070772 rs770420458	1280	A>P		No	ClinGen ExAC gnomAD
TCGA novel	1281	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1258940128 CA366250595	1281	P>S		No	ClinGen gnomAD
rs200773114 CA4070774	1282	R>*		No	ClinGen ExAC TOPMed gnomAD
CA4070775 rs763382477	1282	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1408519200 CA366250602	1283	V>I		No	ClinGen gnomAD
CA366250613 rs1186759616	1284	P>H		No	ClinGen TOPMed
CA366250622 rs1156889319	1286	V>I		No	ClinGen gnomAD
CA366250630 rs1313574482	1287	P>L		No	ClinGen gnomAD
CA4070777 rs774607739	1287	P>S		No	ClinGen ExAC gnomAD
rs1377281625 CA366250639	1289	P>T		No	ClinGen gnomAD
rs543121828 CA150896813	1292	F>L		No	ClinGen gnomAD
CA366250669 rs1355966139	1293	Q>R		No	ClinGen TOPMed gnomAD
rs1562416771 CA366250687	1296	K>*		No	ClinGen Ensembl
CA150896822 rs958902952	1298	A>S		No	ClinGen TOPMed gnomAD
CA4070780 rs753310290	1298	A>V		No	ClinGen ExAC gnomAD
rs1220453238 CA366250704	1299	E>Q		No	ClinGen gnomAD
rs759108669 CA4070781	1300	R>G		No	ClinGen ExAC TOPMed gnomAD
CA4070782 rs764743991	1301	P>Q		No	ClinGen ExAC gnomAD
rs752568108 CA4070783	1302	S>C		No	ClinGen ExAC gnomAD
rs777577699 CA4070785	1303	H>L		No	ClinGen ExAC gnomAD
rs1233069441 CA366250765	1307	A>T		No	ClinGen gnomAD
CA4070787 rs757472497	1310	E>K		No	ClinGen ExAC TOPMed gnomAD
rs781630027 CA4070788	1312	P>T		No	ClinGen ExAC gnomAD
rs1028835979 CA150896864	1313	P>R		No	ClinGen Ensembl
rs954696010 CA150896903	1315	A>T		No	ClinGen gnomAD
CA150896952 rs753347831	1316	G>A		No	ClinGen Ensembl
rs780283439 CA4070791	1317	A>G		No	ClinGen ExAC TOPMed gnomAD
rs749760770 CA366250909	1319	V>L		No	ClinGen ExAC gnomAD
rs749760770 CA4070792	1319	V>M		No	ClinGen ExAC gnomAD
CA150896990 rs913123358	1322	P>S		No	ClinGen Ensembl
TCGA novel	1323	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs769063998 CA4070793	1324	E>K		No	ClinGen ExAC gnomAD
CA366250946 rs774752270	1325	A>E		No	ClinGen ExAC gnomAD
rs1235874757 CA366250943	1325	A>S		No	ClinGen TOPMed
rs774752270 CA4070794	1325	A>V		No	ClinGen ExAC gnomAD
CA4070796 rs137935231	1326	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs916941769 CA150897083	1327	P>L		No	ClinGen TOPMed
rs759196176 CA4070798	1327	P>S		No	ClinGen ExAC gnomAD
CA366250959 rs1375327870	1328	L>F		No	ClinGen TOPMed
rs374078059 CA4070799	1330	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs752174550 CA4070800	1332	V>L		No	ClinGen ExAC TOPMed gnomAD
CA366250992 rs1218165044	1333	P>L		No	ClinGen gnomAD
CA4070802 rs202164985	1334	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM252855 rs751365757 CA4070803	1334	P>L	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA4070801 rs202164985	1334	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA366250997 rs1468738115	1335	R>K		No	ClinGen gnomAD
rs1468738115 CA366250998	1335	R>T		No	ClinGen gnomAD
rs750606028 CA4070806	1335	R>W		No	ClinGen ExAC gnomAD
CA4070807 rs756434300	1337	K>N		No	ClinGen ExAC gnomAD
CA366251012 rs1431814376	1337	K>R		No	ClinGen TOPMed
rs1190703178 CA366251021	1338	K>R		No	ClinGen gnomAD
CA150897148 rs895356089	1340	A>V		No	ClinGen Ensembl
rs780230871 CA4070809	1341	P>A		No	ClinGen ExAC gnomAD
rs1168588142 CA366251039	1341	P>L		No	ClinGen TOPMed gnomAD
CA4070812 rs371916779	1342	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs371916779 CA4070813	1342	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs772360514 CA366251047	1343	A>D		No	ClinGen ExAC gnomAD
CA4070814 rs772360514	1343	A>G		No	ClinGen ExAC gnomAD
rs1436316547 CA366251056	1344	F>L		No	ClinGen gnomAD
rs1583535856 CA366251060	1345	H>P		No	ClinGen Ensembl
CA4070815 rs773602010	1345	H>Q		No	ClinGen ExAC gnomAD
CA366251075 rs769488315	1347	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA366251070 rs1212500789	1347	Q>K		No	ClinGen gnomAD
CA4070818 rs775034493	1348	V>I		No	ClinGen ExAC gnomAD
rs1583535934 CA366251096	1351	S>G		No	ClinGen Ensembl
CA366251114 rs1255067061	1353	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1215365436 CA366251117	1353	S>R		No	ClinGen gnomAD
CA4070820 rs764079839	1359	L>F		No	ClinGen ExAC gnomAD
rs1242837353 CA366251163	1360	T>I		No	ClinGen gnomAD
rs774099466 CA4070823	1361	Y>*		No	ClinGen ExAC gnomAD
rs764312080 CA4070822	1361	Y>*		No	ClinGen ExAC gnomAD
CA4070824 rs558392188	1364	S>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA4070825 rs767380559	1366	S>N		No	ClinGen ExAC gnomAD
rs1167570941 CA366251214	1367	P>L		No	ClinGen gnomAD
rs750264504 CA4070826	1368	S>C		No	ClinGen ExAC gnomAD
CA4070829 rs753944589	1370	H>P		No	ClinGen ExAC gnomAD
CA366251228 rs1185415096	1370	H>Y		No	ClinGen Ensembl
rs755067044 CA4070831	1371	P>L		No	ClinGen ExAC TOPMed gnomAD
rs755067044 CA4070830	1371	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA150897242 rs886703870	1371	P>S		No	ClinGen Ensembl
CA4070834 rs147528121	1372	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs747415759 CA366251249	1373	A>P		No	ClinGen ExAC gnomAD
rs747415759 CA4070835	1373	A>T		No	ClinGen ExAC gnomAD
rs775063411 CA4070837	1374	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1025704800 CA150897284	1374	A>V		No	ClinGen TOPMed gnomAD
rs1005580846 CA150897316	1375	G>D		No	ClinGen TOPMed gnomAD
CA366251267 rs1445172431	1375	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA366251291 rs1190325668	1377	V>A		No	ClinGen gnomAD
CA4070840 RCV000970782 rs61742384	1377	V>I		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA150897329 rs865854620	1382	D>N		No	ClinGen Ensembl
rs372374975 CA150897336	1383	F>S		No	ClinGen ESP
CA366251364 rs1442503536	1384	L>V		No	ClinGen TOPMed
rs1254958352 CA366251388	1386	T>A		No	ClinGen TOPMed
rs1486671073 CA366251412	1388	S>C		No	ClinGen TOPMed
CA4070845 rs760611759	1391	S>R		No	ClinGen ExAC TOPMed gnomAD
CA366251449 rs1266971840	1392	P>S		No	ClinGen gnomAD
CA150897375 rs1009135769	1393	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1310680392 CA366251481	1395	D>N		No	ClinGen TOPMed gnomAD
CA150897383 rs369687937	1397	T>I		No	ClinGen ESP TOPMed gnomAD
CA366251529 rs780434246	1399	A>G		No	ClinGen ExAC TOPMed gnomAD
CA4070847 rs753945291	1399	A>P		No	ClinGen ExAC TOPMed gnomAD
rs753945291 CA4070848	1399	A>S		No	ClinGen ExAC TOPMed gnomAD
CA4070849 rs780434246	1399	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs935769061 CA150897416	1400	M>K		No	ClinGen TOPMed
rs758875294 CA4070851	1402	P>L		No	ClinGen ExAC gnomAD
CA4070852 rs778319723	1403	E>K		No	ClinGen ExAC gnomAD
CA366251588 rs1321413817	1404	A>V		No	ClinGen TOPMed
rs1486031840 CA366251597	1405	A>G		No	ClinGen gnomAD
TCGA novel	1405	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366251613 rs978637089	1407	L>F		No	ClinGen TOPMed gnomAD
rs978637089 CA150897453	1407	L>I		No	ClinGen TOPMed gnomAD
CA366251627 rs1183009466	1408	L>P		No	ClinGen TOPMed gnomAD
rs1183009466 CA366251628	1408	L>R		No	ClinGen TOPMed gnomAD
rs1438385036 CA366251666	1412	Q>*		No	ClinGen gnomAD
rs1184832660 CA366251698	1414	P>L		No	ClinGen TOPMed
CA366251744 rs1158563274	1418	L>F		No	ClinGen TOPMed gnomAD
rs958021752 CA150897476	1421	H>L		No	ClinGen Ensembl
rs1207646892 CA366251779	1422	P>A		No	ClinGen TOPMed
CA4070855 rs781624441	1424	L>P		No	ClinGen ExAC gnomAD
CA366251871 rs1171159391	1429	W>C		No	ClinGen gnomAD
rs189170886 CA4070856	1430	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768377003 CA4070857	1433	S>I		No	ClinGen ExAC gnomAD
rs1330643525 CA366251919	1434	S>L		No	ClinGen gnomAD
TCGA novel	1435	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA4070859 rs747698598	1436	P>H		No	ClinGen ExAC gnomAD
TCGA novel	1440	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1348736746 CA366251992	1440	G>R		No	ClinGen gnomAD
CA4070862 rs201680213	1441	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA366252019 rs1344594560	1442	R>K		No	ClinGen gnomAD
rs1282322734 CA366252038	1443	S>N		No	ClinGen TOPMed
rs368772579 CA4070866	1445	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs765539326 CA4070867	1452	V>L		No	ClinGen ExAC gnomAD
rs1298618257 CA366252123	1455	G>C		No	ClinGen TOPMed
CA366252125 rs1254215684	1455	G>D		No	ClinGen gnomAD
rs1298618257 CA366252122	1455	G>S		No	ClinGen TOPMed
CA4070869 rs763080057	1456	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA4070870 rs372958923	1456	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA4070872 rs751997414	1459	A>P		No	ClinGen ExAC gnomAD
CA4070871 rs751997414	1459	A>T		No	ClinGen ExAC gnomAD
CA366252149 rs930212710	1460	K>*		No	ClinGen TOPMed gnomAD
CA150897571 rs930212710	1460	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA366252173 rs1562418520	1463	L>Q		No	ClinGen Ensembl
rs1394127489 CA366252179	1464	P>L		No	ClinGen gnomAD
CA150897573 rs1047082883	1465	P>L		No	ClinGen TOPMed
rs2502601 CA4070875 VAR_024507	1468	E>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA4070874 rs750846263	1468	E>K		No	ClinGen ExAC gnomAD
CA366252217 rs1299286284	1470	K>*		No	ClinGen gnomAD
rs545821738 CA150897594	1471	T>S		No	ClinGen 1000Genomes
rs778772580 CA4070876	1472	L>V		No	ClinGen ExAC gnomAD
rs1450807804 CA366252256	1475	W>*		No	ClinGen TOPMed
CA4070877 rs747646074	1476	V>L		No	ClinGen ExAC gnomAD
rs1187383297 CA366252273	1478	I>M		No	ClinGen TOPMed
rs530352356 CA4070878	1478	I>V		No	ClinGen ExAC TOPMed gnomAD
CA366252290 rs1447342938	1481	Q>K		No	ClinGen TOPMed
TCGA novel	1483	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA366252317 rs1248067858	1484	R>T		No	ClinGen TOPMed
CA366252322 rs1316255936	1485	T>A		No	ClinGen gnomAD
CA366252340 rs1198441976	1488	Q>*		No	ClinGen gnomAD
rs1274137855 CA366252342	1488	Q>R		No	ClinGen gnomAD
rs777423179 CA4070879	1489	V>L		No	ClinGen ExAC gnomAD
rs1199352292 CA366252355	1490	F>S		No	ClinGen TOPMed
CA366252365 rs1583537577	1491	D>E		No	ClinGen Ensembl
CA150897616 rs373062041	1492	P>L		No	ClinGen ESP gnomAD
CA150897617 rs781324202	1494	A>E		No	ClinGen gnomAD
TCGA novel	1494	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with O15056

6 regional properties for O15056

Type	Name	Position	InterPro Accession
domain	Inositol polyphosphate-related phosphatase	528 - 870	IPR000300
domain	RNA recognition motif domain	889 - 968	IPR000504
domain	SAC domain	61 - 444	IPR002013
domain	Endonuclease/exonuclease/phosphatase	535 - 813	IPR005135
domain	Synaptojanin-1/2, RNA recognition motif	863 - 1008	IPR015047
domain	Synaptojanin-2, RNA recognition motif	889 - 966	IPR034973

Functions

		Description
EC Number	3.1.3.36	Phosphoric monoester hydrolases
Subcellular Localization	Cytoplasm Cell membrane Membrane raft Presynapse Cytoplasm, cytoskeleton	Localizes at presynapse terminals in brain and at bundles of microtubules surrounding the nucleus in the elongating spermatids corresponding to the manchette (By similarity) Translocates from the cytoplasm to membrane ruffles in a RAC1-dependent manner (PubMed:11084340)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

8 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 projection	A prolongation or process extending from a cell, e.g. a flagellum or axon.
cytoskeleton	A cellular structure that forms the internal framework of eukaryotic and prokaryotic cells. The cytoskeleton includes intermediate filaments, microfilaments, microtubules, the microtrabecular lattice, and other structures characterized by a polymeric filamentous nature and long-range order within the cell. The various elements of the cytoskeleton not only serve in the maintenance of cellular shape but also have roles in other cellular functions, including cellular movement, cell division, endocytosis, and movement of organelles.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
presynapse	The part of a synapse that is part of the presynaptic cell.

7 GO annotations of molecular function

Name	Definition
phosphatidylinositol phosphate 4-phosphatase activity	Catalysis of the removal of the 4-phosphate group of a phosphatidylinositol phosphate.
phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3,5-bisphosphate + H2O = a 1-phosphatidyl-1D-myo-inositol 5-phosphate + phosphate + 2 H+.
phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity	Catalysis of the reaction: phosphatidylinositol-3,5-bisphosphate + H2O = phosphatidylinositol-3-phosphate + orthophosphate.
phosphatidylinositol-3-phosphatase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 3-phosphate + H2O = 1-phosphatidyl-1D-myo-inositol + phosphate.
phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity	Catalysis of the reaction: 1-phosphatidyl-1D-myo-inositol 4,5-bisphosphate + H(2)O = 1-phosphatidyl-1D-myo-inositol 4-phosphate + phosphate.
RNA binding	Binding to an RNA molecule or a portion thereof.
SH3 domain binding	Binding to a SH3 domain (Src homology 3) of a protein, small protein modules containing approximately 50 amino acid residues found in a great variety of intracellular or membrane-associated proteins.

6 GO annotations of biological process

Name	Definition
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
inositol phosphate dephosphorylation	The process of removing a phosphate group from any mono- or polyphosphorylated inositol.
membrane organization	A process which results in the assembly, arrangement of constituent parts, or disassembly of a membrane. A membrane is a double layer of lipid molecules that encloses all cells, and, in eukaryotes, many organelles; may be a single or double lipid bilayer; also includes associated proteins.
phosphatidylinositol biosynthetic process	The chemical reactions and pathways resulting in the formation of phosphatidylinositol, any glycophospholipid in which the sn-glycerol 3-phosphate residue is esterified to the 1-hydroxyl group of 1D-myo-inositol.
phosphatidylinositol dephosphorylation	The process of removing one or more phosphate groups from a phosphatidylinositol.
synaptic vesicle endocytosis	A vesicle-mediated transport process, in which the synaptic vesicle membrane constituents are retrieved from the presynaptic membrane on the axon terminal after neurotransmitter secretion by exocytosis. Synaptic vesicle endocytosis can occur via clathrin-dependent and clathrin-independent mechanisms.

1 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P32019	INPP5B	Type II inositol 1,4,5-trisphosphate 5-phosphatase	Homo sapiens (Human)	PR

10	20	30	40	50	60
MALSKGLRLL	GRLGAEGDCS	VLLEARGRDD	CLLFEAGTVA	TLAPEEKEVI	KGQYGKLTDA
70	80	90	100	110	120
YGCLGELRLK	SGGTSLSFLV	LVTGCTSVGR	IPDAEIYKIT	ATDFYPLQEE	AKEEERLIAL
130	140	150	160	170	180
KKILSSGVFY	FSWPNDGSRF	DLTVRTQKQG	DDSSEWGNSF	FWNQLLHVPL	RQHQVSCCDW
190	200	210	220	230	240
LLKIICGVVT	IRTVYASHKQ	AKACLVSRVS	CERTGTRFHT	RGVNDDGHVS	NFVETEQMIY
250	260	270	280	290	300
MDDGVSSFVQ	IRGSVPLFWE	QPGLQVGSHH	LRLHRGLEAN	APAFDRHMVL	LKEQYGQQVV
310	320	330	340	350	360
VNLLGSRGGE	EVLNRAFKKL	LWASCHAGDT	PMINFDFHQF	AKGGKLEKLE	TLLRPQLKLH
370	380	390	400	410	420
WEDFDVFTKG	ENVSPRFQKG	TLRMNCLDCL	DRTNTVQSFI	ALEVLHLQLK	TLGLSSKPIV
430	440	450	460	470	480
DRFVESFKAM	WSLNGHSLSK	VFTGSRALEG	KAKVGKLKDG	ARSMSRTIQS	NFFDGVKQEA
490	500	510	520	530	540
IKLLLVGDVY	GEEVADKGGM	LLDSTALLVT	PRILKAMTER	QSEFTNFKRI	RIAMGTWNVN
550	560	570	580	590	600
GGKQFRSNVL	RTAELTDWLL	DSPQLSGATD	SQDDSSPADI	FAVGFEEMVE	LSAGNIVNAS
610	620	630	640	650	660
TTNKKMWGEQ	LQKAISRSHR	YILLTSAQLV	GVCLYIFVRP	YHVPFIRDVA	IDTVKTGMGG
670	680	690	700	710	720
KAGNKGAVGI	RFQFHSTSFC	FICSHLTAGQ	SQVKERNEDY	KEITQKLCFP	MGRNVFSHDY
730	740	750	760	770	780
VFWCGDFNYR	IDLTYEEVFY	FVKRQDWKKL	LEFDQLQLQK	SSGKIFKDFH	EGAINFGPTY
790	800	810	820	830	840
KYDVGSAAYD	TSDKCRTPAW	TDRVLWWRKK	HPFDKTAGEL	NLLDSDLDVD	TKVRHTWSPG
850	860	870	880	890	900
ALQYYGRAEL	QASDHRPVLA	IVEVEVQEVD	VGARERVFQE	VSSFQGPLDA	TVVVNLQSPT
910	920	930	940	950	960
LEEKNEFPED	LRTELMQTLG	SYGTIVLVRI	NQGQMLVTFA	DSHSALSVLD	VDGMKVKGRA
970	980	990	1000	1010	1020
VKIRPKTKDW	LKGLREEIIR	KRDSMAPVSP	TANSCLLEEN	FDFTSLDYES	EGDILEDDED
1030	1040	1050	1060	1070	1080
YLVDEFNQPG	VSDSELGGDD	LSDVPGPTAL	APPSKSPALT	KKKQHPTYKD	DADLVELKRE
1090	1100	1110	1120	1130	1140
LEAVGEFRHR	SPSRSLSVPN	RPRPPQPPQR	PPPPTGLMVK	KSASDASISS	GTHGQYSILQ
1150	1160	1170	1180	1190	1200
TARLLPGAPQ	QPPKARTGIS	KPYNVKQIKT	TNAQEAEAAI	RCLLEARGGA	SEEALSAVAP
1210	1220	1230	1240	1250	1260
RDLEASSEPE	PTPGAAKPET	PQAPPLLPRR	PPPRVPAIKK	PTLRRTGKPL	SPEEQFEQQT
1270	1280	1290	1300	1310	1320
VHFTIGPPET	SVEAPPVVTA	PRVPPVPKPR	TFQPGKAAER	PSHRKPASDE	APPGAGASVP
1330	1340	1350	1360	1370	1380
PPLEAPPLVP	KVPPRRKKSA	PAAFHLQVLQ	SNSQLLQGLT	YNSSDSPSGH	PPAAGTVFPQ
1390	1400	1410	1420	1430	1440
GDFLSTSSAT	SPDSDGTKAM	KPEAAPLLGD	YQDPFWNLLH	HPKLLNNTWL	SKSSDPLDSG
1450	1460	1470	1480	1490
TRSPKRDPID	PVSAGASAAK	AELPPDHEHK	TLGHWVTISD	QEKRTALQVF	DPLAKT