AiPD: Autoinhibited Protein Database

Q9UN75

Gene name	PCDHA12
Protein name	Protocadherin alpha-12
Names	PCDH-alpha-12
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56137
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

760-829 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

760-829 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

1 structures for Q9UN75

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UN75-F1	Predicted				AlphaFoldDB

953 variants for Q9UN75

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000508600 CA3454461 rs150254638	798	R>H	Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1486371 CA361334218 rs1186466080	4	I>T	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1054729038 CA128380971	4	I>V		No	ClinGen Ensembl
rs367652529 CA3452322 CA3452321	5	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554167702 CA361334267	6	P>Q		No	ClinGen gnomAD
CA361334307 rs1178647780	8	G>S		No	ClinGen TOPMed
CA361334345 rs782226561	9	P>L		No	ClinGen ExAC gnomAD
CA3452323 rs782226561	9	P>Q		No	ClinGen ExAC gnomAD
CA361334368 rs1457273881	10	G>E		No	ClinGen TOPMed
rs1554167711 CA361334420	11	S>C		No	ClinGen gnomAD
rs186070067 CA128380978	13	R>L		No	ClinGen 1000Genomes
rs1554167713 CA361334475	13	R>S		No	ClinGen gnomAD
CA3452326 rs782167817	14	L>V		No	ClinGen ExAC gnomAD
rs1554167725 CA361334559	16	L>P		No	ClinGen gnomAD
CA128380980 rs1039645706	17	S>*		No	ClinGen gnomAD
rs782004877 CA3452328	20	L>F		No	ClinGen ExAC TOPMed gnomAD
rs114654172 CA3452329	21	L>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782766953 CA3452330	24	W>C		No	ClinGen ExAC TOPMed gnomAD
CA3452331 CA361334773 rs558501431	25	E>D		No	ClinGen 1000Genomes ExAC TOPMed
rs782463775 CA3452332	26	V>M		No	ClinGen ExAC gnomAD
rs1335716065 CA361334809	28	S>N		No	ClinGen TOPMed
TCGA novel	29	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361334854 rs1554167756	30	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361334876 rs1554167760	31	L>F		No	ClinGen gnomAD
CA361334882 rs1327477761	31	L>P		No	ClinGen TOPMed
CA361334910 rs1389005721	32	H>R		No	ClinGen TOPMed
CA128380990 rs950708451	34	S>F		No	ClinGen Ensembl
CA361335051 CA361335054 rs1381718234	36	Y>*		No	ClinGen TOPMed gnomAD
CA3452338 rs552791418	36	Y>C		No	ClinGen 1000Genomes ExAC gnomAD
CA128380993 rs534589966	36	Y>H		No	ClinGen 1000Genomes gnomAD
CA361335039 rs552791418	36	Y>S		No	ClinGen 1000Genomes ExAC gnomAD
CA361335055 rs1158750138	37	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1554167782 CA361335253	40	K>E		No	ClinGen gnomAD
rs1438500941 CA361335281	40	K>R		No	ClinGen TOPMed gnomAD
rs1554167787 CA361335309	42	G>R		No	ClinGen gnomAD
TCGA novel	43	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452341 rs782421314	45	V>L		No	ClinGen ExAC TOPMed gnomAD
rs1452104012 CA361335386	46	G>S		No	ClinGen TOPMed
rs1554167804 CA361335416	47	R>L		No	ClinGen gnomAD
rs1554167806 CA361335511	49	A>V		No	ClinGen gnomAD
CA128380999 rs574545388	55	E>G		No	ClinGen 1000Genomes TOPMed gnomAD
CA361335662 rs574545388	55	E>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs782380583 CA3452345	57	A>T		No	ClinGen ExAC gnomAD
rs781973102 CA3452346	58	E>D		No	ClinGen ExAC gnomAD
CA3452348 rs782085221	60	V>A		No	ClinGen ExAC gnomAD
CA3452347 rs782085221	60	V>E		No	ClinGen ExAC gnomAD
CA361335842 rs782085221	60	V>G		No	ClinGen ExAC gnomAD
CA361335849 rs1554167829	61	P>A		No	ClinGen gnomAD
rs781924559 CA3452349	61	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA361335846 rs1554167829	61	P>S		No	ClinGen gnomAD
rs1241102848 CA361335885	62	R>L		No	ClinGen TOPMed
rs782159181 CA3452350	62	R>S		No	ClinGen ExAC gnomAD
rs782787124 CA3452351	64	F>L		No	ClinGen ExAC gnomAD
rs781866030 CA3452352	65	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1554167843 CA361335992	66	V>M		No	ClinGen gnomAD
CA3452354 rs782757213	69	K>*		No	ClinGen ExAC gnomAD
CA361336116 rs1554167850	69	K>N		No	ClinGen gnomAD
TCGA novel	69	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452355 rs781819090	70	R>T		No	ClinGen ExAC gnomAD
rs1236163720 CA361336146	71	H>L		No	ClinGen TOPMed
CA361336157 rs563250653 CA361336159	71	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3452357 rs17844351	72	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1130895 rs1554167867 CA361336249	73	D>E	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3452358 rs781893034	74	L>V		No	ClinGen ExAC gnomAD
TCGA novel	76	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554167877 CA361336415	78	N>S		No	ClinGen gnomAD
rs782640816 CA361336422	79	L>M		No	ClinGen ExAC TOPMed gnomAD
rs782640816 CA3452360	79	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1298475184 CA361336509	82	G>A		No	ClinGen TOPMed
CA361336555 rs1554167893	83	I>T		No	ClinGen gnomAD
CA3452363 rs782599011	83	I>V		No	ClinGen ExAC gnomAD
rs782184518 CA3452364	87	N>D		No	ClinGen ExAC TOPMed gnomAD
CA3452365 rs376701509	88	S>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361336736 rs376701509	88	S>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361336783 rs1197047985	89	R>L		No	ClinGen TOPMed gnomAD
CA361336778 rs1197047985	89	R>Q		No	ClinGen TOPMed gnomAD
rs377133743 CA3452367	90	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452369 rs781967971	90	I>N		No	ClinGen ExAC gnomAD
rs781967971 CA361336791	90	I>T		No	ClinGen ExAC gnomAD
rs377133743 CA3452368	90	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452371 rs782705899	91	D>H		No	ClinGen ExAC TOPMed gnomAD
COSM1062332 CA361336811 rs782705899	91	D>N	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3452372 rs782705899	91	D>Y	Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782144486 CA3452373	92	R>S		No	ClinGen ExAC TOPMed gnomAD
CA3452374 rs782793601 COSM1219547	93	E>K	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3452376 rs782489258	94	K>E		No	ClinGen ExAC TOPMed gnomAD
rs782489258 CA361336938	94	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs781811926 CA3452378	96	C>*		No	ClinGen ExAC TOPMed gnomAD
rs1562702075 CA361337045	96	C>R		No	ClinGen Ensembl
COSM1261246 CA3452381 rs373515339 CA3452380	97	G>R	oesophagus [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361337072 rs373515339	97	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA361337121 rs1554167926	98	R>L		No	ClinGen gnomAD
TCGA novel	98	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782377276 CA3452382	98	R>W		No	ClinGen ExAC gnomAD
rs997656321 CA128381022	99	S>N		No	ClinGen TOPMed
rs782227729 CA3452384	99	S>R		No	ClinGen ExAC gnomAD
CA361337152 rs997656321	99	S>T		No	ClinGen TOPMed
rs182160950 CA361337219	100	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1434027 CA3452385 rs182160950	100	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs782174383 CA3452387	102	C>R		No	ClinGen ExAC
CA361337358 rs1174243985	103	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3452389 rs782000038	104	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3452393 rs782073142	108	V>A		No	ClinGen ExAC gnomAD
CA361337558 rs1185652968	108	V>L		No	ClinGen TOPMed
CA3452394 rs377753022	109	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370212231 CA128381030	111	D>H		No	ClinGen ESP TOPMed
rs782785462 CA3452397	115	Q>*		No	ClinGen ExAC gnomAD
rs1262566792 CA361337806	115	Q>H		No	ClinGen TOPMed gnomAD
CA3452398 rs570265935	115	Q>P		No	ClinGen ExAC gnomAD
CA361337837 rs1582235158	116	V>G		No	ClinGen Ensembl
CA361337936 rs1554167977	118	H>Y		No	ClinGen gnomAD
CA361337972 rs1259125673	119	V>G		No	ClinGen TOPMed gnomAD
rs782702520 CA3452401	120	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1562703586 CA361338084	121	V>A		No	ClinGen Ensembl
rs782436615 CA3452402	121	V>L		No	ClinGen ExAC TOPMed gnomAD
CA361338082 rs782436615	121	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1582236595 CA361338104	122	E>G		No	ClinGen Ensembl
rs1582236751 CA361338120	123	V>G		No	ClinGen Ensembl
CA3452403 rs782682417	124	K>E		No	ClinGen ExAC gnomAD
CA3452404 rs782260600	125	D>N		No	ClinGen ExAC gnomAD
rs1554167985 CA361338184	126	I>V		No	ClinGen gnomAD
rs970551953 CA128381038	127	N>D		No	ClinGen Ensembl
CA361338212 COSM1062337 rs1448268904	128	D>N	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1381473536 CA361338299	129	N>K		No	ClinGen TOPMed
rs782371058 CA3452405	129	N>S		No	ClinGen ExAC gnomAD
rs782371058 CA361338255	129	N>T		No	ClinGen ExAC gnomAD
rs781972677 CA361338326	131	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA3452406 rs781972677	131	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3452408 rs782331349	132	V>M		No	ClinGen ExAC gnomAD
rs1554168013 CA361338458	134	R>T		No	ClinGen gnomAD
TCGA novel	135	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	136	R>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128381043 rs531777396	138	Q>*		No	ClinGen gnomAD
CA3452412 rs201813340	138	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA3452415 rs782733393	139	K>N		No	ClinGen ExAC TOPMed gnomAD
rs782107591 CA3452413	139	K>R		No	ClinGen ExAC gnomAD
rs781902632 CA3452418	140	V>A		No	ClinGen ExAC gnomAD
CA3452416 rs782453395	140	V>I		No	ClinGen ExAC TOPMed gnomAD
rs782453395 CA3452417	140	V>L		No	ClinGen ExAC TOPMed gnomAD
rs781840611 CA128381045	141	P>S		No	ClinGen Ensembl
CA361338677 rs1183868015	142	V>L		No	ClinGen TOPMed
CA361338719 rs1554168051	143	S>C		No	ClinGen gnomAD
rs192382804 CA361338732	144	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs192382804 CA3452420	144	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA361338773 rs1554168057	145	S>P		No	ClinGen gnomAD
rs1554168058 CA361338788	146	A>E		No	ClinGen gnomAD
rs782225928 CA3452421	148	L>R		No	ClinGen ExAC TOPMed gnomAD
rs782082764 CA3452423	150	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA128381048 rs371728021	150	S>P		No	ClinGen ESP TOPMed
rs782181544 CA3452425	151	H>P		No	ClinGen ExAC TOPMed gnomAD
rs782181544 CA361338959	151	H>R		No	ClinGen ExAC TOPMed gnomAD
rs782580460 CA3452424	151	H>Y		No	ClinGen ExAC gnomAD
rs1554168093 CA361339029	153	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3452427 rs782673398	154	L>I		No	ClinGen ExAC gnomAD
TCGA novel	155	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781964808 CA3452430	155	E>K		No	ClinGen ExAC gnomAD
rs375005102 CA3452431	156	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361339246 rs1306170767	159	D>E		No	ClinGen TOPMed gnomAD
CA361339227 rs1554168112	159	D>H		No	ClinGen gnomAD
CA361339250 rs1292449525	160	A>E		No	ClinGen TOPMed
CA3452436 rs782793293	161	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1358206666 CA361339305	162	I>V		No	ClinGen TOPMed
CA361339367 rs1448292250	163	G>R		No	ClinGen TOPMed
TCGA novel	164	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781855552 CA3452438	166	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1554168125 CA361339468	166	S>P		No	ClinGen gnomAD
rs17844352 CA128381059	167	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs17844352 CA361339488 COSM1541913	167	L>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3452439 rs782102743	167	L>P		No	ClinGen ExAC gnomAD
rs534648937 CA3452441	169	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs782696437 CA3452444	170	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs200521027 CA3452442	170	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs782628581 CA3452447	173	S>G		No	ClinGen ExAC gnomAD
rs574636926 CA3452449	174	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs574636926 CA3452448	174	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1441666431 CA361339852	175	N>K		No	ClinGen TOPMed
rs1408776164 CA361339871	176	E>K		No	ClinGen TOPMed
TCGA novel	178	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361340000 rs1177191662	179	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA3452450 rs371785405	182	I>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	182	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452452 rs371785405	182	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361340179 rs1554168175	182	I>V		No	ClinGen gnomAD
rs782016830 CA3452454	183	K>N		No	ClinGen ExAC gnomAD
CA3452455 rs782132751	184	T>A		No	ClinGen ExAC TOPMed gnomAD
rs868965758 CA361340277	184	T>K		No	ClinGen gnomAD
TCGA novel	187	D>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554168208 COSM1434029 CA361340442	187	D>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1554168212 CA361340493	189	S>G		No	ClinGen gnomAD
TCGA novel	189	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554168215 CA361340502	189	S>R		No	ClinGen gnomAD
CA361340525 rs1554168219	190	I>K		No	ClinGen gnomAD
CA3452456 rs782361513	190	I>M		No	ClinGen ExAC gnomAD
CA361340514 rs1554168216	190	I>V		No	ClinGen gnomAD
rs1241831258 CA361340550	191	L>S		No	ClinGen TOPMed
TCGA novel	192	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1305657261 CA361340590	192	P>L		No	ClinGen TOPMed
CA3452457 rs781957967	192	P>S		No	ClinGen ExAC TOPMed gnomAD
rs367948106 CA3452459	193	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs782670279 CA128381073	195	V>I		No	ClinGen Ensembl
rs781906188 CA3452460	196	L>F		No	ClinGen ExAC gnomAD
CA361340740 rs782151232	197	R>G		No	ClinGen ExAC TOPMed gnomAD
CA3452461 rs782151232	197	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	198	K>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs371336139 COSM1219549 CA3452462	205	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA3452463 rs371336139	205	T>R		No	ClinGen ESP ExAC gnomAD
TCGA novel	206	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452464 rs782479233	208	L>F		No	ClinGen ExAC gnomAD
CA3452465 rs782479233	208	L>I		No	ClinGen ExAC gnomAD
rs781801828 CA3452466	208	L>P		No	ClinGen ExAC gnomAD
rs781801828 CA361341079	208	L>R		No	ClinGen ExAC gnomAD
rs1554168263 CA361341238	213	M>V		No	ClinGen TOPMed
rs1037777164 CA128381081	214	V>E		No	ClinGen TOPMed
CA361341341 rs1421736359	215	I>T		No	ClinGen TOPMed
rs895150841 CA128381083	217	G>S		No	ClinGen Ensembl
rs782527674 CA3452470	218	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361341492 rs782626047	219	K>*		No	ClinGen ExAC gnomAD
CA3452471 rs782626047	219	K>E		No	ClinGen ExAC gnomAD
rs906423754 CA128381086	220	P>A		No	ClinGen Ensembl
rs782217370 CA3452473	221	E>D		No	ClinGen ExAC gnomAD
rs782331817 CA3452475	222	L>R		No	ClinGen ExAC
rs1554168285 CA361341669	223	T>A		No	ClinGen gnomAD
CA3452479 rs75398909	225	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452478 rs782406571	225	S>P		No	ClinGen ExAC TOPMed gnomAD
rs781957040 CA3452482	228	I>F		No	ClinGen ExAC gnomAD
rs1554168308 CA361341895	228	I>T		No	ClinGen gnomAD
CA361341952 rs1582262337	230	I>T		No	ClinGen Ensembl
CA361341989 rs1554168313	231	T>I		No	ClinGen gnomAD
CA361341995 rs1554168317	232	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781910243 CA3452486	233	L>P		No	ClinGen ExAC gnomAD
rs957879450 CA128381098	234	D>E		No	ClinGen TOPMed
TCGA novel	234	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369965805 CA3452487	234	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782772220 CA3452488	236	N>K		No	ClinGen ExAC gnomAD
rs1554168344 CA361342328	239	G>S		No	ClinGen gnomAD
rs1313911800 CA361342383	240	P>L		No	ClinGen TOPMed
CA361342374 rs1313911800	240	P>Q		No	ClinGen TOPMed
COSM736155 rs782463342 CA3452492	240	P>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3452491 rs782463342	240	P>T		No	ClinGen ExAC gnomAD
CA3452494 rs782432614	241	A>G		No	ClinGen ExAC TOPMed gnomAD
rs1343468592 CA361342449	243	D>N		No	ClinGen TOPMed gnomAD
CA361343676 rs1402082324	246	S>G		No	ClinGen TOPMed
rs782372222 CA3452497	247	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs782252921 CA3452496	247	Y>C		No	ClinGen ExAC gnomAD
rs782252921 CA361343742	247	Y>S		No	ClinGen ExAC gnomAD
rs1360937276 CA361343786	248	K>N		No	ClinGen TOPMed
rs1451679036 CA361343780	248	K>T		No	ClinGen TOPMed
CA128381105 rs976376933	249	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA361343791 rs976376933 CA361343788	249	V>L		No	ClinGen TOPMed gnomAD
CA3452500 rs782218758	252	S>F		No	ClinGen ExAC gnomAD
CA361343936 rs1428769390	253	E>D		No	ClinGen TOPMed gnomAD
CA3452501 rs782328225	255	V>A		No	ClinGen ExAC TOPMed gnomAD
rs782328225 CA3452502	255	V>D		No	ClinGen ExAC TOPMed gnomAD
CA3452503 rs782170059	256	Q>E		No	ClinGen ExAC gnomAD
CA3452505 rs782003806	257	N>S		No	ClinGen ExAC gnomAD
CA3452508 rs782761082	261	V>A		No	ClinGen ExAC
CA3452511 rs782047443	262	I>M		No	ClinGen ExAC gnomAD
CA3452510 rs781806447	262	I>N		No	ClinGen ExAC gnomAD
CA361344133 rs1554168418	262	I>V		No	ClinGen gnomAD
rs1554168431 CA361344163	263	Q>*		No	ClinGen gnomAD
CA361344191 rs1554168436	264	L>I		No	ClinGen gnomAD
CA3452512 rs782810123	267	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1554168448 CA361344284	268	D>H		No	ClinGen gnomAD
TCGA novel	268	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452514 rs782516629	269	P>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361344312 rs1554168451	269	P>Q		No	ClinGen gnomAD
CA3452515 rs782516629	269	P>S		No	ClinGen ExAC gnomAD
CA3452516 rs781831935	271	E>A		No	ClinGen ExAC TOPMed gnomAD
rs1295181054 CA361344384	271	E>D		No	ClinGen TOPMed
CA3452517 rs782471001	272	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3452518 rs201253884	274	N>S		No	ClinGen ExAC TOPMed gnomAD
CA361344472 rs1337465467	275	G>A		No	ClinGen TOPMed
rs1469744425 CA361344491	276	E>*		No	ClinGen TOPMed gnomAD
CA3452519 rs782182425	276	E>D		No	ClinGen ExAC TOPMed gnomAD
rs868927753 CA3452520	279	Y>*		No	ClinGen TOPMed
CA361344593 rs1167952130	280	G>R		No	ClinGen TOPMed gnomAD
CA3452523 rs782671827	282	K>E		No	ClinGen ExAC TOPMed gnomAD
rs146464308 CA3452524	284	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361344711 rs1554168484	284	I>T		No	ClinGen gnomAD
CA361344699 rs146464308	284	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452525 rs782377581	288	S>C		No	ClinGen ExAC TOPMed gnomAD
CA361344803 rs782377581	288	S>G		No	ClinGen ExAC TOPMed gnomAD
CA361344805 rs1554168487	288	S>N		No	ClinGen gnomAD
rs1554168488 CA361344843	289	E>*		No	ClinGen gnomAD
rs1554168492 CA361344921	291	C>F		No	ClinGen gnomAD
CA361344901 rs1196276310	291	C>R		No	ClinGen TOPMed gnomAD
rs1196276310 CA361344897	291	C>S		No	ClinGen TOPMed gnomAD
rs781967314 CA3452526	293	F>V		No	ClinGen ExAC TOPMed gnomAD
rs1554168496 CA361345104	297	P>S		No	ClinGen gnomAD
rs782065777 CA3452527	298	D>G		No	ClinGen ExAC gnomAD
rs564115297 CA3452528	299	T>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3452529 rs564115297	299	T>R		No	ClinGen 1000Genomes ExAC gnomAD
rs782140152 CA3452530	300	G>D		No	ClinGen ExAC gnomAD
TCGA novel	302	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	302	I>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361345291 rs1554168503	302	I>M		No	ClinGen gnomAD
TCGA novel	303	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373053230 CA3452532	307	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs1562712555 CA361345515	308	L>P		No	ClinGen Ensembl
CA361345548 rs782094508	309	D>A		No	ClinGen ExAC gnomAD
rs782094508 CA3452533	309	D>G		No	ClinGen ExAC gnomAD
CA361345529 rs1554168515	309	D>Y		No	ClinGen gnomAD
rs1361779592 CA361345601	311	E>K		No	ClinGen TOPMed gnomAD
CA3452535 rs781814727	312	E>D		No	ClinGen ExAC gnomAD
rs1554168548 CA361345737	314	N>K		No	ClinGen gnomAD
CA3452537 rs782679956	315	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3452538 rs267600399	319	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs1562712994 CA361345892	321	N>D		No	ClinGen Ensembl
CA361345904 rs1380633697	321	N>K		No	ClinGen TOPMed
CA361345935 rs1554168557	322	A>V		No	ClinGen gnomAD
CA361345958 rs369023443	323	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs369023443 CA3452539	323	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361345985 rs1554168564	324	D>E		No	ClinGen gnomAD
rs782638942 CA3452540	324	D>Y		No	ClinGen ExAC gnomAD
rs1396307044 CA361346069	326	G>V		No	ClinGen TOPMed
rs1554168573 CA361346119	328	P>L		No	ClinGen gnomAD
CA361346138 rs1554168578	329	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782233071 CA3452542	330	M>T		No	ClinGen ExAC TOPMed gnomAD
rs1459131060 CA361346151	331	A>T		No	ClinGen TOPMed gnomAD
rs1385416022 CA361346239	335	M>V		No	ClinGen TOPMed
rs782344970 CA3452543	336	V>I		No	ClinGen ExAC gnomAD
rs372044061 CA3452544	337	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452546 rs782413739	339	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	342	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781995151 CA3452547 COSM1434030	343	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1554168614 CA361346455	345	D>G		No	ClinGen gnomAD
CA3452549 rs782353975	346	N>K		No	ClinGen ExAC gnomAD
rs782112140 CA3452548	346	N>S		No	ClinGen ExAC gnomAD
CA3452550 rs559810221	347	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3452552 rs782705478	348	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3452551 rs782076196	348	P>S		No	ClinGen ExAC gnomAD
rs1554168632 CA361346609	351	M>I		No	ClinGen gnomAD
CA3452553 rs375358450	353	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452555 rs782148318	355	L>P		No	ClinGen ExAC
rs1030865953 CA128381154	356	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782388773 CA128381156	357	L>P		No	ClinGen gnomAD
rs1281346113 CA361346733	358	P>L		No	ClinGen TOPMed
rs781855200 CA3452557	360	Q>R		No	ClinGen ExAC gnomAD
CA128381159 rs369915148	362	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs371696514 CA3452559	365	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554168675 CA361346930	366	G>A		No	ClinGen gnomAD
rs1302204057 CA361346922	366	G>R		No	ClinGen TOPMed gnomAD
rs1302204057 CA361346916	366	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
COSM1434031 CA361346951 rs1554168680	368	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA128381163 rs1018443767	369	I>T		No	ClinGen Ensembl
rs1554168681 CA361346979	369	I>V		No	ClinGen gnomAD
rs782654448 CA3452562	370	A>G		No	ClinGen ExAC gnomAD
rs782256478 CA3452563	372	I>L		No	ClinGen ExAC gnomAD
CA3452564 rs201129017	372	I>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	373	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361347107 rs1469576623	374	V>L		No	ClinGen TOPMed
rs1361945795 CA361347139 COSM1261242	375	S>L	oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	376	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143847585 COSM3827027 CA361347168	377	R>C	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs572945874 CA128381168	377	R>P		No	ClinGen gnomAD
rs143847585 CA3452566	377	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1582292779 CA361347237	378	D>A		No	ClinGen Ensembl
rs1480667665 CA361347257	379	S>A		No	ClinGen TOPMed
CA361347267 rs1267902187	379	S>F		No	ClinGen TOPMed
CA3452569 rs781928314	382	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3452567 rs116001450	382	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452570 rs782423759	383	G>E		No	ClinGen ExAC TOPMed gnomAD
rs782004207 CA3452571	385	V>G		No	ClinGen ExAC gnomAD
rs782117235 CA3452572	386	I>V		No	ClinGen ExAC gnomAD
CA361347473 rs1554168754	388	S>L		No	ClinGen gnomAD
CA361347478 rs1554168755	389	L>V		No	ClinGen gnomAD
rs782741498 CA3452573	390	T>I		No	ClinGen ExAC gnomAD
rs782741498 CA361347504	390	T>R		No	ClinGen ExAC gnomAD
rs782068706 CA3452575	393	V>A		No	ClinGen ExAC gnomAD
rs782068706 CA3452576	393	V>G		No	ClinGen ExAC gnomAD
CA3452574 rs372867848	393	V>I		No	ClinGen ESP ExAC gnomAD
CA3452577 rs781890773	394	P>L		No	ClinGen ExAC TOPMed gnomAD
rs782771484 CA3452579	397	L>R		No	ClinGen ExAC TOPMed gnomAD
CA3452580 rs781830697	398	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3452581 rs782473628	400	T>I		No	ClinGen ExAC gnomAD
CA3452583 rs782568001	401	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA3452582 rs782568001	401	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1554168774 CA361347721	401	Y>H		No	ClinGen gnomAD
rs782561315 COSM1062345 CA3452584	402	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3452585 rs782671923	403	N>Y		No	ClinGen ExAC gnomAD
rs782371303 CA3452587	404	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs782271076 CA3452586	404	Y>H		No	ClinGen ExAC gnomAD
CA361347778 rs1554168790	405	Y>C		No	ClinGen gnomAD
CA361347783 rs1382110439	406	S>T		No	ClinGen TOPMed
rs1196941664 CA361347808	408	V>M		No	ClinGen TOPMed
rs1554168805 CA361347837	410	D>E		No	ClinGen gnomAD
CA361347851 rs369536692	411	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs570565884 CA3452593	415	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs374218090 CA3452595	415	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452594 rs374218090	415	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA361347889 rs570565884	415	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361347900 rs1554168825	416	E>*		No	ClinGen gnomAD
CA3452598 rs781797133	416	E>D		No	ClinGen ExAC gnomAD
rs1554168825 CA361347897 COSM1219548	416	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3452599 rs782039603	417	S>N		No	ClinGen ExAC TOPMed gnomAD
rs782820769 CA361347917	417	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	418	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs140611870 CA361347923	418	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs140611870 CA3452601	418	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200398819 CA3452603	419	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452602 rs200398819	419	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361347946 COSM1243490 rs1338047769	420	A>T	oesophagus [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3452605 rs782483829	420	A>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	423	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782650836 CA3452609	423	L>R		No	ClinGen ExAC gnomAD
CA361347989 rs1554168860	424	V>L		No	ClinGen gnomAD
rs1411489174 CA361347997	425	V>A		No	ClinGen TOPMed
rs782242909 CA3452610	425	V>L		No	ClinGen ExAC gnomAD
CA3452613 rs374137138	427	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374137138 CA3452612	427	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782357436 CA3452611	427	A>S		No	ClinGen ExAC gnomAD
rs782357436 CA361348005	427	A>T		No	ClinGen ExAC gnomAD
rs782037862 CA3452615	428	R>P		No	ClinGen ExAC gnomAD
CA3452616 rs535720832	429	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA361348023 rs1554168887	430	G>A		No	ClinGen gnomAD
rs1562718507 CA361348028	431	G>D		No	ClinGen Ensembl
CA361348035 rs1462172871	432	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782103064 CA3452619	434	S>*		No	ClinGen ExAC gnomAD
rs373638459 CA128381212	435	L>M		No	ClinGen ESP TOPMed
CA3452624 rs368135366	436	W>*		No	ClinGen ESP ExAC gnomAD
rs782434844 COSM1062347 CA3452623	436	W>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3452625 rs372500794	437	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs372500794 CA361348083	437	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361348094 COSM168082 rs1554168921	438	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1336979041 CA361348087	438	T>S		No	ClinGen TOPMed
rs1246016078 CA361348095	439	A>S		No	ClinGen TOPMed
rs782617794 CA3452627	440	R>T		No	ClinGen ExAC gnomAD
CA3452629 rs782321220	441	V>M		No	ClinGen ExAC gnomAD
rs201565376 CA3452632	444	E>G		No	ClinGen 1000Genomes TOPMed gnomAD
rs1554168956 CA361348161	445	V>A		No	ClinGen gnomAD
CA361348170 rs1554168959	446	A>V		No	ClinGen gnomAD
CA3452637 rs782365798	448	V>G		No	ClinGen ExAC gnomAD
CA128381224 rs571648883	448	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3452636 rs571648883 COSM590012	448	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3452638 rs781959784	449	N>K		No	ClinGen ExAC gnomAD
rs1554168970 CA361348215	451	N>S		No	ClinGen gnomAD
rs1554168978 CA361348231	452	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199585768 CA3452641	453	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452640 rs782699472	453	P>S		No	ClinGen ExAC gnomAD
rs782753877 CA3452643	455	F>L		No	ClinGen ExAC gnomAD
CA3452646 rs782712356	457	Q>*		No	ClinGen ExAC gnomAD
CA3452648 rs200154646	458	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200154646 CA3452647	458	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361348295 rs1562720449	459	E>A		No	ClinGen Ensembl
CA361348291 rs1481885077 COSM3429005	459	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA361348309 rs1554169034	460	Y>C		No	ClinGen gnomAD
rs1293540004 CA361348322	461	T>R		No	ClinGen TOPMed
CA361348330 rs1554169044	462	V>A		No	ClinGen gnomAD
TCGA novel	463	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361348352 rs1225401565	464	V>A		No	ClinGen TOPMed gnomAD
COSM1219546 rs1554169053 CA361348345	464	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3452655 rs563777938	466	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA361348387 rs781921402 CA3452656	467	N>K		No	ClinGen ExAC gnomAD
CA361348392 rs1582319583	468	N>T		No	ClinGen Ensembl
CA361348407 rs1305242755	469	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1367174318 CA361348399	469	P>T		No	ClinGen TOPMed
rs192756440 CA3452660	471	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452661 rs782742455 COSM1062353	471	G>D	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3452659 rs192756440	471	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361348437 rs1409299527	473	H>D		No	ClinGen TOPMed gnomAD
CA3452662 rs373414098	473	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	474	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452663 rs782046911	474	I>V		No	ClinGen ExAC gnomAD
CA3452664 rs782804184	475	F>L		No	ClinGen ExAC gnomAD
CA3452665 rs781884794	476	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361348476 rs781884794	476	T>R		No	ClinGen ExAC gnomAD
rs564258415 CA128381247	477	V>M		No	ClinGen 1000Genomes
CA3452666 COSM1434033 rs782526620	478	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs782597420 CA3452670	479	A>T		No	ClinGen ExAC gnomAD
TCGA novel	480	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452672 rs184817309	480	W>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3452673 rs184817309	480	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782247870 CA3452674	483	D>G		No	ClinGen ExAC gnomAD
rs1554169106 CA361348552	484	A>P		No	ClinGen gnomAD
CA361348564 rs1554169109	485	Q>*		No	ClinGen gnomAD
CA361348562 rs1554169109	485	Q>E		No	ClinGen gnomAD
rs782589579 CA3452676	485	Q>P		No	ClinGen ExAC gnomAD
CA3452677 rs188405716	486	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs377563074 CA3452678	487	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	488	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3941071 CA361348600 rs1554169119	488	A>V	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361348606 rs1554169125	489	L>Q		No	ClinGen gnomAD
CA3452681 rs200121350	490	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3452684 rs550148099	491	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs1554169144 CA361348633	492	Y>F		No	ClinGen gnomAD
CA361348628 rs1345066567	492	Y>H		No	ClinGen TOPMed
rs1455444799 CA361348656	494	L>P		No	ClinGen TOPMed gnomAD
rs1455444799 CA361348654	494	L>R		No	ClinGen TOPMed gnomAD
rs1291888381 CA361348650	494	L>V		No	ClinGen TOPMed gnomAD
CA3452685 rs782751017	495	V>L		No	ClinGen ExAC gnomAD
rs1159087379 CA361348672	496	E>G		No	ClinGen TOPMed
rs1562723002 CA361348667	496	E>Q		No	ClinGen Ensembl
CA3452687 rs782051302	497	R>G		No	ClinGen ExAC gnomAD
CA3452688 rs375871457	497	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361348687 rs1554169161	498	R>P		No	ClinGen gnomAD
CA361348685 rs1554169161	498	R>Q		No	ClinGen gnomAD
rs781890307 CA3452689	498	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782613091 CA3452691	499	V>G		No	ClinGen ExAC gnomAD
rs200960356 CA361348689	499	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200960356 CA3452690	499	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA361348700 rs1554169165	500	G>C		No	ClinGen gnomAD
rs1479921830 CA361348701	500	G>D		No	ClinGen TOPMed
TCGA novel	500	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452694 rs782572252	501	E>G		No	ClinGen ExAC gnomAD
CA361348718 rs782283591	502	H>D		No	ClinGen ExAC TOPMed gnomAD
rs782283591 CA3452695	502	H>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361348721 rs782413550	502	H>P		No	ClinGen ExAC TOPMed gnomAD
CA3452696 rs782413550	502	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1554169178 CA361348730	503	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3452697 rs782646541	503	A>V		No	ClinGen ExAC gnomAD
TCGA novel	505	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781957201 CA3452700	506	S>I		No	ClinGen ExAC TOPMed gnomAD
rs781957201 CA361348757	506	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1222630901 CA361348771	507	Y>F		No	ClinGen TOPMed gnomAD
rs375771604 CA128381266 CA361348776	508	V>L		No	ClinGen TOPMed gnomAD
CA361348774 rs375771604	508	V>M		No	ClinGen TOPMed gnomAD
rs1024280391 CA128381268	509	S>A		No	ClinGen TOPMed gnomAD
rs782308798 CA3452702	509	S>W		No	ClinGen ExAC gnomAD
rs191376557 CA3452704	510	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361348805 rs1433546348	511	H>Q		No	ClinGen TOPMed
CA361348824 rs1177640704	513	E>V		No	ClinGen TOPMed
CA3452707 rs559122507	514	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs371309003 CA3452708	515	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA361348841 rs781790454	515	G>D		No	ClinGen ExAC TOPMed gnomAD
CA3452709 rs781790454	515	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1554169255 CA361348865	518	Y>H		No	ClinGen gnomAD
rs376609696 CA3452711	519	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs376609696 CA3452710	519	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452712 rs367864661	519	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed
CA361348885 rs1554169262	520	L>V		No	ClinGen gnomAD
rs1562724958 CA361348891	521	Q>*		No	ClinGen Ensembl
rs782624599 CA3452714	522	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361348914 rs1252847205	523	L>P		No	ClinGen TOPMed gnomAD
rs372059660 CA3452719	525	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554169270 CA361348947	526	E>G		No	ClinGen gnomAD
CA3452720 rs376952553	526	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554169275 CA361348957	527	E>Q		No	ClinGen gnomAD
rs566250084 CA3452722	528	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3452721 rs566250084	528	L>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3452723 rs369562052	529	E>G		No	ClinGen ESP ExAC TOPMed
rs1300201825 CA361349004	532	Q>*		No	ClinGen TOPMed gnomAD
rs1050946101 CA128381284	532	Q>H		No	ClinGen Ensembl
CA361349042 rs1554169291	535	V>L		No	ClinGen Ensembl
CA361349057 rs113692468 CA128381287	536	S>R		No	ClinGen TOPMed
CA3452727 rs201590988	537	A>S		No	ClinGen ExAC gnomAD
rs782722834 CA3452731	540	A>G		No	ClinGen ExAC gnomAD
CA3452729 rs201209762	540	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452730 rs201209762	540	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361349124 COSM3776294 rs1554169320	542	V>L	urinary_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs782669477 CA3452734	543	P>Q		No	ClinGen ExAC gnomAD
CA361349146 rs1182980941	543	P>S		No	ClinGen TOPMed
rs782607272 CA3452737	544	P>L		No	ClinGen ExAC gnomAD
rs1012975289 CA128381293	545	L>P		No	ClinGen Ensembl
CA3452739 rs370191624	546	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs782188760 CA3452738	546	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3452740 rs370191624	546	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452741 rs575080243	547	S>G		No	ClinGen 1000Genomes ExAC gnomAD
rs782384853 CA3452742	547	S>I		No	ClinGen ExAC TOPMed gnomAD
CA361349229 rs781979355	549	V>L		No	ClinGen ExAC TOPMed gnomAD
rs781979355 CA3452743	549	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3452744 rs782093528	550	T>A		No	ClinGen ExAC gnomAD
CA361349295 rs782727100	550	T>M		No	ClinGen ExAC gnomAD
rs782727100 CA3452745	550	T>R		No	ClinGen ExAC gnomAD
CA3452746 rs781947378	552	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA3452747 rs782052511	552	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	552	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361349402 rs1339173132	554	F>L		No	ClinGen TOPMed gnomAD
rs782812769 CA3452748	555	V>A		No	ClinGen ExAC gnomAD
CA361349413 rs1554169356	555	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3452749 rs781891057	556	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3452750 rs782522652	557	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	557	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554169360 CA361349449	557	D>Y		No	ClinGen gnomAD
rs543806401 CA3452751	558	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs370292278 CA361349594	560	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370292278 CA128381306	560	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs370292278 CA3452755	560	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs782559744 CA3452756	561	N>K		No	ClinGen ExAC TOPMed gnomAD
CA361349648 rs1471783281	562	A>P		No	ClinGen TOPMed
rs1471783281 CA361349647 COSM259196	562	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs782531082 CA3452758	563	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361349685 rs782531082	563	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA3452759 rs782642663	564	A>S		No	ClinGen ExAC gnomAD
CA3452760 rs782243946	564	A>V		No	ClinGen ExAC gnomAD
CA3452763 rs371577720	567	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452764 rs370071106	569	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1554169414 CA361349803	569	P>T		No	ClinGen gnomAD
rs782037799 CA3452765	570	A>T		No	ClinGen ExAC gnomAD
rs1554169429 CA361349851	571	G>A		No	ClinGen gnomAD
COSM1541910 CA3452766 rs201399892	571	G>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361349903 rs1554169431	572	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3452767 rs370743077	573	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452768 rs370743077	573	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361349947 rs1554169443	574	G>E		No	ClinGen gnomAD
CA3452769 rs202102698	574	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452770 rs782703953	575	G>A		No	ClinGen ExAC gnomAD
CA3452771 rs781787046	576	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3452772 rs781787046	576	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1345698735 CA361349976	576	A>V		No	ClinGen TOPMed
rs782807049 CA361350018 CA3452774	578	S>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	581	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452775 rs571871387	582	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3452776 rs571871387	582	P>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs560974692 CA128381323	583	R>P		No	ClinGen 1000Genomes gnomAD
rs560974692 CA361350130 COSM1062362	583	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA gnomAD
CA3452778 rs200698690 COSM1062361	583	R>W	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs199811254 CA3452779	584	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452780 rs199811254	584	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452781 rs782403008	588	G>D		No	ClinGen ExAC gnomAD
CA361351354 rs1554169505	590	V>G		No	ClinGen gnomAD
CA361351347 rs1481558429	590	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs201483899 CA3452782	591	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361351392 rs1198393990	592	A>T		No	ClinGen TOPMed
CA3452783 rs782249614	592	A>V		No	ClinGen ExAC gnomAD
rs1554169514 CA361351402	593	K>T		No	ClinGen gnomAD
CA3452784 rs782364296	595	R>P		No	ClinGen ExAC TOPMed gnomAD
CA361351431 rs1554169516	595	R>S		No	ClinGen gnomAD
CA361351451 rs1206242754	596	A>S		No	ClinGen TOPMed
CA361351462 rs1554169532	597	V>A		No	ClinGen gnomAD
CA128381982 rs80241760	598	D>G		No	ClinGen Ensembl
CA361351503 rs1266651704	599	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs781933102 CA3452785	601	S>C		No	ClinGen ExAC gnomAD
rs1324679559 CA361351589	601	S>P		No	ClinGen TOPMed gnomAD
rs1038142877 CA128381985	602	G>C		No	ClinGen TOPMed gnomAD
rs1038142877 CA361351606	602	G>S		No	ClinGen TOPMed gnomAD
rs782014601 CA3452788	603	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs782432213 CA3452787	603	Y>D		No	ClinGen ExAC gnomAD
rs1318334277 CA361351672	604	N>K		No	ClinGen TOPMed gnomAD
CA3452790 rs76220347	605	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361351706 rs1386310658	606	W>*		No	ClinGen TOPMed
CA3452792 rs782747810	606	W>G		No	ClinGen ExAC gnomAD
rs782747810 CA3452791	606	W>R		No	ClinGen ExAC gnomAD
rs527823173 CA3452793	607	L>V		No	ClinGen ExAC TOPMed gnomAD
rs374061607 CA3452798 CA3452797	609	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782559386 CA3452796	609	Y>D		No	ClinGen ExAC gnomAD
CA361351794 rs782559386 COSM482117	609	Y>H	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3452799 rs782513442	610	E>Q		No	ClinGen ExAC gnomAD
CA361351871 rs1554169576	612	Q>E		No	ClinGen gnomAD
CA3452801 rs371801888	613	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371801888 CA361351911	613	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3452803 rs782681304	614	A>T		No	ClinGen ExAC
rs1193928342 CA361351979	616	V>F		No	ClinGen TOPMed gnomAD
CA3452806 rs781978703	616	V>G		No	ClinGen ExAC
TCGA novel	616	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554169599 CA361351997	617	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782336745 CA361352034	618	A>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782336745 CA3452808	618	A>S		No	ClinGen ExAC gnomAD
rs782817195 CA3452811	619	H>R		No	ClinGen ExAC gnomAD
CA3452810 rs782056111	619	H>Y		No	ClinGen ExAC gnomAD
rs782027925 CA3452812	621	P>A		No	ClinGen ExAC gnomAD
CA361352127 rs375199455	621	P>L		No	ClinGen ESP TOPMed gnomAD
rs375199455 CA361352124	621	P>Q		No	ClinGen ESP TOPMed gnomAD
CA128382002 rs375199455	621	P>R		No	ClinGen ESP TOPMed gnomAD
rs1554169617 CA361352183	622	F>L		No	ClinGen gnomAD
CA3452814 rs782755927	623	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
rs1010108182 CA128382004	623	H>Y		No	ClinGen Ensembl
rs1462091033 CA361352198 COSM1261244	624	V>M	oesophagus large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1554169631 CA361352234	626	L>P		No	ClinGen gnomAD
TCGA novel	629	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361352337 rs1453276727	630	E>D		No	ClinGen TOPMed
CA3452815 rs199937567 COSM1062364	630	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361352396 rs1358364554	632	S>G		No	ClinGen TOPMed
rs201967192 CA361352417	632	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452816 rs201967192	632	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201135340 CA3452817	633	T>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3452818 rs781905172	633	T>R		No	ClinGen ExAC gnomAD
CA3452819 rs782534808	634	T>P		No	ClinGen ExAC gnomAD
CA3452820 rs782650940	635	R>G		No	ClinGen ExAC gnomAD
CA3452821 rs782239316	635	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3452825 rs782310487	638	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1186041410 CA361352614	639	E>G		No	ClinGen TOPMed
rs782042077 CA3452826	640	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361352707 rs375548936	641	D>E		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs538259450 CA3452827	641	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs1554169669 CA361352691	641	D>N		No	ClinGen gnomAD
rs781989521 CA3452829	642	A>S		No	ClinGen ExAC TOPMed gnomAD
rs782097203 CA3452830	643	P>A		No	ClinGen ExAC gnomAD
rs1237282908 CA361352761	643	P>L		No	ClinGen TOPMed gnomAD
rs199806507 CA3452832	644	R>H	Variant assessed as Somatic; 0.0001387 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs199806507 CA361352780	644	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554169686 CA361352808	645	H>Q		No	ClinGen gnomAD
rs1554169685 CA361352792	645	H>R		No	ClinGen gnomAD
CA3452834 rs782157769	646	R>L		No	ClinGen ExAC TOPMed gnomAD
rs782157769 CA3452833	646	R>P		No	ClinGen ExAC TOPMed gnomAD
rs1554169714 CA361352929	648	L>Q		No	ClinGen gnomAD
rs1282242153 CA361352966	649	V>A		No	ClinGen TOPMed
rs782190793 CA128382020	649	V>L		No	ClinGen gnomAD
rs782574302 CA3452840	654	H>N		No	ClinGen ExAC gnomAD
rs1354877569 CA361353164 COSM3674308	655	G>S	Variant assessed as Somatic; impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA361353208 rs1554169741	656	E>K		No	ClinGen gnomAD
rs782552942 CA3452842	658	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
CA3452843 rs782657623	658	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1406485859 CA361353443	660	T>A		No	ClinGen TOPMed gnomAD
CA3452845 rs782361627	660	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3452847 rs782196648	662	T>A		No	ClinGen ExAC gnomAD
CA3452848 rs73263833	662	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3452850 rs782125799	663	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3452851 rs782373755	664	T>M		No	ClinGen ExAC
rs781957457 CA3452852	666	L>M		No	ClinGen ExAC gnomAD
CA128382034 rs928334566	668	S>*		No	ClinGen Ensembl
TCGA novel	670	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782077464 CA3452853	670	V>M		No	ClinGen ExAC gnomAD
rs543675270 CA3452854	671	E>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781785108 CA361353800 CA3452855	672	N>K		No	ClinGen ExAC TOPMed gnomAD
CA361353785 rs1293347310	672	N>T		No	ClinGen TOPMed
CA3452856 rs782165291	673	G>R		No	ClinGen ExAC gnomAD
CA3452857 rs563591404	675	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532509235 CA361353935	678	T>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs532509235 CA3452859	678	T>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs892674985 CA361353993 COSM673936	679	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs892674985 CA128382044	679	S>W		No	ClinGen TOPMed gnomAD
rs1582389090 CA361354025	680	S>L		No	ClinGen Ensembl
rs782271327 CA3452864	682	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361354127 rs1562735759	685	G>S		No	ClinGen Ensembl
rs1554169807 CA361354155	685	G>V		No	ClinGen gnomAD
TCGA novel	686	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	686	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361354244 rs1402880820	688	D>E		No	ClinGen TOPMed
rs1413175649 CA361354246	689	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1044322759 CA361354268	690	E>K		No	ClinGen gnomAD
rs1044322759 CA128382046	690	E>Q		No	ClinGen gnomAD
rs782624202 CA3452867	691	A>E		No	ClinGen ExAC TOPMed gnomAD
rs782624202 CA3452866	691	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782342116 CA3452868	692	A>V		No	ClinGen ExAC TOPMed gnomAD
rs781933436 CA3452869	694	V>A		No	ClinGen ExAC gnomAD
CA128382052 rs267600400	695	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3452870 rs782179941	696	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361354461 rs1582392588	697	N>D		No	ClinGen Ensembl
CA3452871 rs782415331	698	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3452873 rs782129855	699	Y>*		No	ClinGen ExAC gnomAD
CA3452872 rs782021677	699	Y>C		No	ClinGen ExAC gnomAD
CA361354541 rs1487907484 COSM1219544	699	Y>H	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1244471489 CA361354606	701	I>M		No	ClinGen TOPMed
TCGA novel	701	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554169886 CA361354614	702	I>L		No	ClinGen gnomAD
CA361354641 rs1217870231	702	I>T		No	ClinGen TOPMed
rs1554169892 CA361354658	703	A>P		No	ClinGen gnomAD
rs559831598 CA3452875	703	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA361354689 COSM379713 rs1267289072	704	I>M	lung [Cosmic]	No	ClinGen cosmic curated TOPMed
CA3452876 rs782090888	704	I>N		No	ClinGen ExAC
CA361354760 rs1554169905 COSM590005	706	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs782719581 CA3452877	708	S>A		No	ClinGen ExAC gnomAD
CA361354813 rs1582395644	709	S>C		No	ClinGen Ensembl
rs1554169914 CA361354874	710	L>V		No	ClinGen gnomAD
rs376081263 CA3452878	711	L>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs782533203 CA3452879	712	V>A		No	ClinGen ExAC gnomAD
rs1554169925 CA361354936	713	L>F		No	ClinGen gnomAD
CA361355068 rs1554169929	718	Y>C		No	ClinGen gnomAD
rs1554169929 CA361355043	718	Y>F		No	ClinGen gnomAD
CA361355074 rs782765998	719	T>A		No	ClinGen ExAC gnomAD
CA3452880 rs782765998	719	T>P		No	ClinGen ExAC gnomAD
CA361355108 rs1220029307	720	A>E		No	ClinGen TOPMed gnomAD
rs1366996546 CA361355116	721	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361355166 rs1554169939 COSM1434045	722	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA361355167 rs1554169943	722	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3452881 rs548787462	723	C>W		No	ClinGen 1000Genomes ExAC gnomAD
CA3452882 rs782472866	725	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3452883 rs369703340	726	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369703340 CA361355300	726	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA361355338 rs1456022709	727	P>L		No	ClinGen TOPMed gnomAD
CA361355335 rs1456022709	727	P>R		No	ClinGen TOPMed gnomAD
CA361355362 rs868936879	728	T>I		No	ClinGen Ensembl
CA361355371 rs1554169952	729	V>L		No	ClinGen gnomAD
rs1176424464 CA361355402	730	S>R		No	ClinGen TOPMed gnomAD
CA361355413 rs1432170411	731	R>Q		No	ClinGen TOPMed
rs1554169960 CA361355412	731	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3452885 rs782433528	732	C>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs548426920 CA3452886	733	A>T		No	ClinGen 1000Genomes ExAC gnomAD
CA3452888 rs782395925	734	P>A		No	ClinGen ExAC gnomAD
rs1187719075 CA361355469	734	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361355463 rs782395925	734	P>S		No	ClinGen ExAC gnomAD
CA361355484 rs781985023	735	G>D		No	ClinGen ExAC TOPMed gnomAD
CA361355480 rs868992566	735	G>S		No	ClinGen Ensembl
CA3452889 rs781985023	735	G>V		No	ClinGen ExAC TOPMed gnomAD
rs1554169975 CA361355507	737	P>S		No	ClinGen gnomAD
rs1247391418 CA361355513	738	T>A		No	ClinGen TOPMed
rs377753884 COSM125183 CA3452890	738	T>M	upper_aerodigestive_tract pancreas [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs377753884 CA361355532	738	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	742	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361355633 rs1554169994	742	S>P		No	ClinGen gnomAD
CA361355658 rs1554169995	743	S>G		No	ClinGen gnomAD
CA3452891 rs782346022	744	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3452892 rs781946062	744	A>V		No	ClinGen ExAC TOPMed gnomAD
rs142399025 CA3452894	745	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA128382074 rs974017564	745	V>M		No	ClinGen Ensembl
CA361355770 rs1230755122	746	G>E		No	ClinGen TOPMed
TCGA novel	746	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781999747 CA3452897	748	W>G		No	ClinGen ExAC TOPMed gnomAD
rs781999747 CA361355828	748	W>R		No	ClinGen ExAC TOPMed gnomAD
CA361355923 rs781814794	752	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA3452900 rs781814794	752	Q>E		No	ClinGen ExAC TOPMed gnomAD
COSM1261245 rs1554170045 CA361355947	753	Q>E	oesophagus [Cosmic]	No	ClinGen cosmic curated gnomAD
rs782465464 CA3452901	753	Q>R		No	ClinGen ExAC gnomAD
rs979836328 CA128382081	755	R>K		No	ClinGen Ensembl
CA3452902 rs539793128	756	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs189370080 CA3452903	756	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361356085 rs1554170071	758	V>A		No	ClinGen gnomAD
CA3452904 rs200651425	758	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361356102 rs1554170075	759	C>R		No	ClinGen gnomAD
CA3452906 rs782249537	760	S>F		No	ClinGen ExAC gnomAD
rs782654875 CA3452905	760	S>P		No	ClinGen ExAC gnomAD
rs782480713 CA3452907	762	E>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	763	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782609531 CA3452908	763	S>T		No	ClinGen ExAC gnomAD
rs1357034359 CA361356265	764	P>L		No	ClinGen TOPMed
CA3452909 rs377126743	765	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA361356314 rs1449599637	766	K>R		No	ClinGen TOPMed
CA128382089 rs372461540	767	T>K		No	ClinGen ESP ExAC gnomAD
COSM1434046 rs372461540 CA3452910	767	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
TCGA novel	767	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452911 rs782686661	768	D>Y		No	ClinGen ExAC gnomAD
rs1389004100 CA361356400	770	M>I		No	ClinGen TOPMed gnomAD
CA361356561 rs782259804	774	P>S		No	ClinGen ExAC TOPMed gnomAD
rs782259804 CA3452912	774	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1554170117 CA361356648	777	Q>L		No	ClinGen gnomAD
TCGA novel	780	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3452914 rs782370638	780	R>G		No	ClinGen ExAC TOPMed gnomAD
CA361356708 rs1256619106	780	R>L		No	ClinGen TOPMed
rs782076422 CA3452916	781	E>D		No	ClinGen ExAC gnomAD
CA3452915 rs781966059	781	E>K		No	ClinGen ExAC gnomAD
CA361356752 rs1254536256	782	D>G		No	ClinGen TOPMed
rs146522449 CA3452917	782	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361356888 rs1554170159	786	P>L		No	ClinGen gnomAD
CA3452918 rs781916987	786	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3452919 rs782156769	787	P>L		No	ClinGen ExAC TOPMed
CA361356899 rs1226856696	787	P>S		No	ClinGen TOPMed
rs1313925880 CA361356939	789	E>*		No	ClinGen TOPMed gnomAD
CA361356949 rs1395855806	789	E>G		No	ClinGen TOPMed gnomAD
CA361356937 rs1313925880	789	E>K		No	ClinGen TOPMed gnomAD
rs782073950 CA3454452	790	P>R		No	ClinGen ExAC gnomAD
CA361259520 rs1490306705	790	P>S		No	ClinGen TOPMed
rs374951627 CA3454453	791	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs781913955 CA3454454	791	R>L		No	ClinGen ExAC gnomAD
CA3454455 rs781913955	791	R>Q		No	ClinGen ExAC gnomAD
rs782109224 CA3454458	796	D>H		No	ClinGen ExAC
COSM3696815 COSM3696819 COSM3696826 COSM3696817 CA3454459 COSM3696814 COSM3696822 COSM3696816 COSM3696828 COSM3696812 COSM3696820 rs782774245 COSM3696813 COSM3696823 COSM3696825 COSM3696821 COSM3696827 COSM3696818 COSM3696824	797	W>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361259640 rs782774245	797	W>S		No	ClinGen ExAC gnomAD
CA3454460 rs141879545	798	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454463 rs781815387	801	A>D		No	ClinGen ExAC TOPMed gnomAD
rs138901709 CA3454464	802	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs782686641 CA3454465	803	L>P		No	ClinGen ExAC gnomAD
rs1363421000 CA361259736	804	R>I		No	ClinGen TOPMed
rs1586790986 CA361259751	805	A>G		No	ClinGen Ensembl
CA3454466 rs782253140	806	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3454467 rs782336746	807	M>V		No	ClinGen ExAC
CA361259787 rs1554240128	808	H>N		No	ClinGen gnomAD
rs149397164 CA3454468	809	S>G		No	ClinGen ESP ExAC gnomAD
rs782426631 CA3454484	810	S>A		No	ClinGen ExAC TOPMed gnomAD
rs782587733 CA3454485	810	S>C		No	ClinGen ExAC gnomAD
rs782426631 CA361260538	810	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1181664726 CA361260559	811	V>A		No	ClinGen TOPMed gnomAD
CA361260577 rs1554244276	812	H>P		No	ClinGen gnomAD
COSM1062442 COSM1062448 COSM1062450 rs782273708 COSM1062445 COSM1062454 COSM1062455 COSM1062443 COSM1062452 COSM1062456 COSM1062457 COSM1062451 COSM1062453 COSM1062449 COSM1062447 CA3454486 COSM1062444	812	H>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3454488 rs782634646	814	E>G		No	ClinGen ExAC gnomAD
CA3454487 rs782419098	814	E>Q		No	ClinGen ExAC gnomAD
rs147537783 CA3454489	815	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs981642614 CA128362369	816	A>T		No	ClinGen Ensembl
rs782347331 CA3454490	817	G>D		No	ClinGen ExAC TOPMed gnomAD
CA361260711 rs1468199443	818	I>V		No	ClinGen TOPMed
rs555523473 CA3454493	820	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139355257 CA3454492	820	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782025005 CA3454494	822	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361260802 rs1278779763	823	P>T		No	ClinGen TOPMed gnomAD
CA3454495 rs201991205	825	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454497 rs201572428	827	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3454496 rs782766562	827	D>V		No	ClinGen ExAC
rs1554244431 CA361260933	829	Q>R		No	ClinGen gnomAD
CA3454498 rs782094765	830	W>C		No	ClinGen ExAC gnomAD
CA3454499 RCV000950135 rs79247475	831	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA128362405 rs369053351	831	P>T		No	ClinGen ESP TOPMed gnomAD
rs1554244455 CA361260996	832	T>A		No	ClinGen gnomAD
CA3454501 rs782544627	833	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3454502 rs577838197	835	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3454504 rs781852534	835	S>I		No	ClinGen ExAC gnomAD
rs781852534 CA3454503	835	S>N		No	ClinGen ExAC gnomAD
rs782605920 CA3454505	835	S>R		No	ClinGen ExAC gnomAD
rs199851685 CA3454506	837	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3454507 rs782437404	838	P>A		No	ClinGen ExAC gnomAD
rs560422677 CA3454508	838	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs560422677 CA3454509	838	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361261129 rs782437404	838	P>S		No	ClinGen ExAC gnomAD
rs782179145 CA3454531	839	E>G		No	ClinGen ExAC gnomAD
CA3454532 rs782321757	842	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554262240 CA361268348	844	E>G		No	ClinGen gnomAD
rs781996586 CA3454536	850	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
COSM1179266 rs782079089 COSM1179264 COSM1179272 COSM1179273 COSM1179269 COSM1179270 COSM1179277 COSM1179268 COSM1179263 COSM1179271 COSM1179278 COSM1179275 COSM1179276 COSM1179265 CA3454537 COSM1179267 COSM1179274	851	A>V	lung prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1588246273 CA361268557	853	V>G		No	ClinGen Ensembl
CA3454540 rs782068657	853	V>I		No	ClinGen ExAC gnomAD
rs1563727066 CA361268679	857	S>N		No	ClinGen Ensembl
COSM139598 COSM139601 COSM139604 COSM139606 COSM139609 COSM139603 COSM139600 COSM139611 COSM139608 rs1554262287 COSM139599 COSM139607 COSM139602 COSM139605 COSM139610 CA361268865	863	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs900919931 CA128372514	863	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554262289 CA361268920	865	G>D		No	ClinGen gnomAD
CA3454542 rs575518914	867	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1175529844 CA361268995	868	K>R		No	ClinGen TOPMed gnomAD
CA3454543 rs782119637	870	S>C		No	ClinGen ExAC gnomAD
CA3454546 rs552954748	871	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552954748 CA3454545	871	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373683237 CA3454547	872	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486746921 CA361269173	873	G>S		No	ClinGen TOPMed
CA128372547 rs1057913	877	D>A		No	ClinGen Ensembl
rs371269236 CA3454551	877	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454552 rs782334415	878	K>I		No	ClinGen ExAC TOPMed gnomAD
CA3454553 rs782623559	881	I>V		No	ClinGen ExAC gnomAD
CA3454555 rs782328874	882	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3454556 rs200822345	883	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454559 rs782009776	887	I>M		No	ClinGen ExAC TOPMed gnomAD
rs142720081 CA361269729	887	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3454558 rs142720081	887	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782087059 CA3454560	888	I>F		No	ClinGen ExAC gnomAD
rs1289763016 CA361269834	890	I>V		No	ClinGen TOPMed
rs760426957 CA3454562	891	R>Q		No	ClinGen ExAC gnomAD
COSM1166265 COSM1166271 COSM1166266 COSM1166268 COSM1166267 COSM1166273 COSM1166276 COSM1166277 COSM1166272 COSM1166264 COSM1166279 rs147351924 CA3454561 COSM1166275 COSM1166269 COSM1166278 COSM1166270 COSM1166274	891	R>W	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361269875 rs1554262408	892	Q>K		No	ClinGen gnomAD
CA361269953 rs1554262420	894	P>A		No	ClinGen gnomAD
CA361269962 rs1359138927	894	P>R		No	ClinGen TOPMed gnomAD
rs1314860754 CA361269972	895	T>A		No	ClinGen TOPMed
CA361270002 rs1554262437	896	N>K		No	ClinGen TOPMed
CA3454564 rs148436868	897	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554262456 CA361270119	899	I>T		No	ClinGen gnomAD
rs781853535 CA3454565	899	I>V		No	ClinGen ExAC TOPMed gnomAD
rs529364872 CA128372646	900	D>E		No	ClinGen Ensembl
CA3454567 rs142570778	900	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA128372638 rs782057926	900	D>Y		No	ClinGen TOPMed gnomAD
CA3454568 rs781835321	901	K>N		No	ClinGen ExAC gnomAD
rs782451974 CA3454569	904	F>Y		No	ClinGen ExAC gnomAD
CA3454570 rs782578873	906	T>I		No	ClinGen ExAC
rs782274123 CA3454571	907	F>S		No	ClinGen ExAC gnomAD
COSM216699 COSM216705 CA3454573 COSM216710 rs782642898 COSM1158471 COSM216696 COSM216700 COSM216702 COSM216709 COSM216704 COSM216698 COSM216697 COSM216706 COSM216707 COSM216701 COSM216703 COSM216708	908	G>S	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3454574 rs782270689	910	K>M		No	ClinGen ExAC gnomAD
rs782270689 CA361270554	910	K>R		No	ClinGen ExAC gnomAD
rs1259591783 CA361270565	911	E>Q		No	ClinGen TOPMed
CA361270593 rs1554262487	912	E>D		No	ClinGen gnomAD
CA3454575 rs782348993	913	T>I		No	ClinGen ExAC gnomAD
rs781972089 CA3454577	914	K>E		No	ClinGen ExAC gnomAD
rs1554262492 CA361270633	914	K>R		No	ClinGen gnomAD
rs374660085 CA3454578	919	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361270828 rs1554262513	920	K>R		No	ClinGen gnomAD
CA3454579 rs782413551	921	K>R		No	ClinGen ExAC TOPMed gnomAD
rs782413551 CA361270853	921	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1307653192 CA361270984	924	K>N		No	ClinGen TOPMed
CA128372721 rs184181976	924	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1554262529 CA361271070	927	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782776948 CA3454583	929	K>N		No	ClinGen ExAC gnomAD
CA3454584 rs781954349	932	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361271296 rs1295693430	933	N>D		No	ClinGen TOPMed
rs1554262551 CA361271322	933	N>K		No	ClinGen gnomAD
CA361271306 rs1415929182	933	N>S		No	ClinGen TOPMed
CA128372734 rs958247947	934	S>G		No	ClinGen Ensembl
CA128372735 rs17855798	934	S>N		No	ClinGen Ensembl
COSM1434122 COSM1434119 CA3454585 COSM1434134 COSM1434133 COSM1434130 COSM1434131 COSM1434125 COSM1434126 COSM1434124 COSM1434127 COSM1434129 COSM1434121 COSM1434120 COSM1434123 rs199928168 COSM1434128 COSM1434132	935	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361271405 rs1301104421	936	T>A		No	ClinGen TOPMed
CA361271440 rs1554262572	937	D>E		No	ClinGen gnomAD
CA361271462 rs1463725058	938	N>Y		No	ClinGen TOPMed

No associated diseases with Q9UN75

10 regional properties for Q9UN75

Type	Name	Position	InterPro Accession
domain	Cadherin-like	28 - 133	IPR002126-1
domain	Cadherin-like	134 - 242	IPR002126-2
domain	Cadherin-like	242 - 350	IPR002126-3
domain	Cadherin-like	351 - 565	IPR002126-4
domain	Cadherin-like	581 - 678	IPR002126-5
domain	Cadherin, N-terminal	30 - 111	IPR013164
conserved_site	Cadherin conserved site	230 - 240	IPR020894-1
conserved_site	Cadherin conserved site	443 - 453	IPR020894-2
conserved_site	Cadherin conserved site	553 - 563	IPR020894-3
domain	Cadherin, C-terminal catenin-binding domain	791 - 924	IPR031904

Functions

		Description
EC Number
Subcellular Localization	Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
integral component of plasma membrane	The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.

1 GO annotations of molecular function

Name	Definition
calcium ion binding	Binding to a calcium ion (Ca2+).

3 GO annotations of biological process

Name	Definition
cell adhesion	The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules.
homophilic cell adhesion via plasma membrane adhesion molecules	The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.

47 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q3SWX5	CDH6	Cadherin-6	Bos taurus (Bovine)	PR
P79995	CDH10	Cadherin-10	Gallus gallus (Chicken)	PR
Q8UVJ7	CDHR1	Cadherin-related family member 1	Gallus gallus (Chicken)	PR
Q5DRC8	PCDHB6	Protocadherin beta-6	Pan troglodytes (Chimpanzee)	PR
Q5DRE4	PCDHA8	Protocadherin alpha-8	Pan troglodytes (Chimpanzee)	PR
Q5DRE6	PCDHA6	Protocadherin alpha-6	Pan troglodytes (Chimpanzee)	PR
Q5DRF0	PCDHA2	Protocadherin alpha-2	Pan troglodytes (Chimpanzee)	PR
Q5DRE7	PCDHA5	Protocadherin alpha-5	Pan troglodytes (Chimpanzee)	PR
Q5DRF2	PCDHA12	Protocadherin alpha-12	Pan troglodytes (Chimpanzee)	PR
Q9VJB6	CadN2	Putative neural-cadherin 2	Drosophila melanogaster (Fruit fly)	PR
Q9ULB4	CDH9	Cadherin-9	Homo sapiens (Human)	PR
P12830	CDH1	Cadherin-1	Homo sapiens (Human)	PR
Q9H159	CDH19	Cadherin-19	Homo sapiens (Human)	PR
Q9Y6N8	CDH10	Cadherin-10	Homo sapiens (Human)	PR
P55285	CDH6	Cadherin-6	Homo sapiens (Human)	PR
P19022	CDH2	Cadherin-2	Homo sapiens (Human)	PR
Q6ZTQ4	CDHR3	Cadherin-related family member 3	Homo sapiens (Human)	PR
Q9BZA8	PCDH11Y	Protocadherin-11 Y-linked	Homo sapiens (Human)	PR
Q08174	PCDH1	Protocadherin-1	Homo sapiens (Human)	PR
Q9HC56	PCDH9	Protocadherin-9	Homo sapiens (Human)	PR
Q9P2E7	PCDH10	Protocadherin-10	Homo sapiens (Human)	PR
Q9Y5H8	PCDHA3	Protocadherin alpha-3	Homo sapiens (Human)	PR
Q9Y5I2	PCDHA10	Protocadherin alpha-10	Homo sapiens (Human)	PR
Q9UN72	PCDHA7	Protocadherin alpha-7	Homo sapiens (Human)	PR
Q9UN74	PCDHA4	Protocadherin alpha-4	Homo sapiens (Human)	PR
Q9Y5I1	PCDHA11	Protocadherin alpha-11	Homo sapiens (Human)	PR
Q9Y5H7	PCDHA5	Protocadherin alpha-5	Homo sapiens (Human)	PR
Q9UN73	PCDHA6	Protocadherin alpha-6	Homo sapiens (Human)	PR
Q9Y5H6	PCDHA8	Protocadherin alpha-8	Homo sapiens (Human)	PR
Q9Y5I3	PCDHA1	Protocadherin alpha-1	Homo sapiens (Human)	PR
Q9Y5H9	PCDHA2	Protocadherin alpha-2	Homo sapiens (Human)	PR
Q9Y5H3	PCDHGA10	Protocadherin gamma-A10	Homo sapiens (Human)	PR
O60330	PCDHGA12	Protocadherin gamma-A12	Homo sapiens (Human)	PR
Q9Y5G4	PCDHGA9	Protocadherin gamma-A9	Homo sapiens (Human)	PR
Q9Y5G0	PCDHGB5	Protocadherin gamma-B5	Homo sapiens (Human)	PR
Q9Y5E3	PCDHB6	Protocadherin beta-6	Homo sapiens (Human)	PR
Q9Y5F1	PCDHB12	Protocadherin beta-12	Homo sapiens (Human)	PR
P09803	Cdh1	Cadherin-1	Mus musculus (Mouse)	PR
P15116	Cdh2	Cadherin-2	Mus musculus (Mouse)	PR
P70407	Cdh9	Cadherin-9	Mus musculus (Mouse)	PR
P97326	Cdh6	Cadherin-6	Mus musculus (Mouse)	PR
P70408	Cdh10	Cadherin-10	Mus musculus (Mouse)	PR
Q8VHF2	Cdhr5	Cadherin-related family member 5	Mus musculus (Mouse)	PR
Q91Y11	Pcdha9	Protocadherin alpha-9	Mus musculus (Mouse)	PR
P55280	Cdh6	Cadherin-6	Rattus norvegicus (Rat)	PR
Q9Z1Y3	Cdh2	Cadherin-2	Rattus norvegicus (Rat)	PR
Q767I8	Pcdha4	Protocadherin alpha-4	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MVIIGPRGPG	SQRLLLSLLL	LAAWEVGSGQ	LHYSVYEEAK	HGTFVGRIAQ	DLGLELAELV
70	80	90	100	110	120
PRLFRVASKR	HGDLLEVNLQ	NGILFVNSRI	DREKLCGRSA	ECSIHLEVIV	DRPLQVFHVD
130	140	150	160	170	180
VEVKDINDNP	PVFREREQKV	PVSESAPLDS	HFPLEGASDA	DIGVNSLLTY	ALSLNENFEL
190	200	210	220	230	240
KIKTKKDKSI	LPELVLRKLL	DREQTPKLNL	LLMVIDGGKP	ELTGSVQIQI	TVLDVNDNGP
250	260	270	280	290	300
AFDKPSYKVV	LSENVQNDTR	VIQLNASDPD	EGLNGEISYG	IKMILPVSEK	CMFSINPDTG
310	320	330	340	350	360
EIRIYGELDF	EENNAYEIQV	NAIDKGIPSM	AGHSMVLVEV	LDVNDNVPEV	MVTSLSLPVQ
370	380	390	400	410	420
EDAQVGTVIA	LISVSDRDSG	ANGQVICSLT	PHVPFKLVST	YKNYYSLVLD	SALDRESVSA
430	440	450	460	470	480
YELVVTARDG	GSPSLWATAR	VSVEVADVND	NAPAFAQPEY	TVFVKENNPP	GCHIFTVSAW
490	500	510	520	530	540
DADAQKNALV	SYSLVERRVG	EHALSSYVSV	HAESGKVYAL	QPLDHEELEL	LQFQVSARDA
550	560	570	580	590	600
GVPPLGSNVT	LQVFVLDEND	NAPALLATPA	GSAGGAVSEL	VPRSVGAGHV	VAKVRAVDAD
610	620	630	640	650	660
SGYNAWLSYE	LQPAAVGAHI	PFHVGLYTGE	ISTTRILDEA	DAPRHRLLVL	VKDHGEPALT
670	680	690	700	710	720
STATVLVSLV	ENGQAPKTSS	RASVGAVDPE	AALVDINVYL	IIAICAVSSL	LVLTLLLYTA
730	740	750	760	770	780
LRCSAPPTVS	RCAPGKPTLV	CSSAVGSWSY	SQQRRQRVCS	AESPPKTDLM	AFSPSLQLSR
790	800	810	820	830	840
EDCLNPPSEP	RQPNPDWRYS	ASLRAGMHSS	VHLEEAGILR	AGPGGPDQQW	PTVSSATPEP
850	860	870	880	890	900
EAGEVSPPVG	AGVNSNSWTF	KYGPGNPKQS	GPGELPDKFI	IPGSPAIISI	RQEPTNSQID
910	920	930	940
KSDFITFGKK	EETKKKKKKK	KGNKTQEKKE	KGNSTTDNSD	Q