AiPD: Autoinhibited Protein Database

Q9Y5H8

Gene name	PCDHA3
Protein name	Protocadherin alpha-3
Names	PCDH-alpha-3
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56145
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

859-933 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

859-933 (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 Q9Y5H8

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y5H8-F1	Predicted				AlphaFoldDB

981 variants for Q9Y5H8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000034872 rs587776956 CA130976	584	S>P	Variant of unknown significance [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000508600 CA3454461 rs150254638	807	R>H	Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs782110175 CA3446159	5	W>*		No	ClinGen ExAC gnomAD
CA3446160 rs782740358	5	W>*		No	ClinGen ExAC gnomAD
rs781998335 CA3446158	5	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1482637194 CA361255015	6	R>G		No	ClinGen TOPMed gnomAD
rs539562114 CA3446161	6	R>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA3446163 rs782702902	8	D>G		No	ClinGen ExAC
rs782060470 CA3446162	8	D>H		No	ClinGen ExAC gnomAD
rs782060470 CA361255077	8	D>N		No	ClinGen ExAC gnomAD
CA3446165 rs781901922	9	P>A		No	ClinGen ExAC TOPMed gnomAD
rs781901922 CA3446164	9	P>T		No	ClinGen ExAC TOPMed gnomAD
rs143390889 CA3446166	10	G>E		No	ClinGen ESP ExAC TOPMed
CA128371483 rs557580137	10	G>R		No	ClinGen 1000Genomes gnomAD
rs782473874 CA3446168	11	A>G		No	ClinGen ExAC TOPMed gnomAD
rs782589053 CA3446169	12	Q>H		No	ClinGen ExAC gnomAD
rs1554121325 CA361255219	12	Q>R		No	ClinGen gnomAD
CA3446171 rs782420859	16	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3446173 rs782251011	22	A>E		No	ClinGen ExAC gnomAD
rs1554121337 CA361255444	22	A>S		No	ClinGen gnomAD
CA3446174 rs782368455	24	S>W		No	ClinGen ExAC TOPMed gnomAD
CA3446176 rs782078417	25	E>G		No	ClinGen ExAC gnomAD
CA3446175 rs781968055	25	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1554121348 CA361255584	27	G>R		No	ClinGen Ensembl
CA3446177 CA3446178 COSM3946918 rs150081104	28	S>R	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3446179 rs782159759	29	G>C		No	ClinGen ExAC TOPMed gnomAD
CA361255614 rs782159759	29	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1554121357 CA361255674	31	L>F		No	ClinGen gnomAD
TCGA novel	31	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361255680 rs1554121363	31	L>P		No	ClinGen gnomAD
CA361255691 rs1554121367	32	H>R		No	ClinGen gnomAD
CA128371559 rs376147788	33	Y>H		No	ClinGen ESP TOPMed gnomAD
CA3446181 rs781856490	33	Y>S		No	ClinGen ExAC gnomAD
CA3446182 rs782102566	34	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1554121379 COSM1219563 CA361255755	35	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA3446185 rs782440931	36	S>Y		No	ClinGen ExAC gnomAD
CA3446187 rs781891946	38	E>A		No	ClinGen ExAC gnomAD
CA3446186 rs782696520	38	E>K		No	ClinGen ExAC gnomAD
rs1489581574 CA361255850	39	A>D		No	ClinGen TOPMed gnomAD
rs200755369 CA3446188	41	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA361255881 rs1266329271	41	H>Y		No	ClinGen TOPMed gnomAD
CA3446190 rs138727039	42	G>R		No	ClinGen ESP ExAC
COSM1219571 CA361255935 rs1554121393	43	T>N	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361255995 rs1581641335	46	G>R		No	ClinGen Ensembl
rs1554121401 COSM1219565 CA361256026	47	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs782016888 CA3446195 COSM1486357	48	I>M	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM283795 rs782257139 CA3446196	49	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs574825520 CA3446197	49	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	50	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361256062 rs1554121412	50	Q>R		No	ClinGen gnomAD
rs1554121420 CA361256089	52	L>P		No	ClinGen gnomAD
CA361256094 CA361256095 rs1554121426	53	G>R		No	ClinGen gnomAD
rs199783721 CA361256123 COSM3239602 CA3446200	55	E>D	liver [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA361256119 rs1554121433	55	E>G		No	ClinGen gnomAD
rs542094254 CA3446201	57	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1456655666 CA361256147	58	E>A		No	ClinGen TOPMed
CA3446202 rs782156109	58	E>Q		No	ClinGen ExAC gnomAD
CA361256171 rs1581641791	60	V>G		No	ClinGen Ensembl
rs781848330 CA3446204	60	V>L		No	ClinGen ExAC gnomAD
rs781848330 CA361256166	60	V>M		No	ClinGen ExAC gnomAD
VAR_061060 CA3446205 rs7731327	61	P>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1554121455 CA361256177	61	P>S		No	ClinGen gnomAD
rs782738715 CA3446206	62	R>G		No	ClinGen ExAC gnomAD
CA3446207 rs147415938	62	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446209 rs782680310	63	L>Q		No	ClinGen ExAC gnomAD
rs1554121466 CA361256208	64	F>L		No	ClinGen gnomAD
CA361256198 rs1581641946	64	F>L		No	ClinGen Ensembl
TCGA novel	65	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1433600970 CA361256240	67	A>T		No	ClinGen TOPMed
CA128371638 rs985372322	69	K>Q		No	ClinGen Ensembl
CA361256348 rs149543626	72	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446215 rs149543626	72	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3446213 COSM3239606 CA3446214 rs201362111	72	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs781922932 CA3446217	73	D>E		No	ClinGen ExAC gnomAD
CA3446219 rs528555541	75	L>M		No	ClinGen 1000Genomes ExAC gnomAD
CA3446221 rs782125063	77	V>A		No	ClinGen ExAC gnomAD
rs782008104 CA3446220	77	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs782752855 CA3446222	79	L>R		No	ClinGen ExAC TOPMed gnomAD
rs776837907 CA3446223	80	Q>H		No	ClinGen ExAC gnomAD
CA3446224 rs782061266	82	G>D		No	ClinGen ExAC gnomAD
rs546691914 CA3446225	83	I>T		No	ClinGen 1000Genomes ExAC gnomAD
CA361256550 rs1554121478	83	I>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361256584 rs1313179646	84	L>F		No	ClinGen TOPMed
CA128371687 rs180779710	84	L>M		No	ClinGen 1000Genomes TOPMed
rs562041671 CA128371707	85	F>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA361256605 rs1554121484	86	V>M		No	ClinGen gnomAD
rs1231634560 CA361258308	88	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1562179138 CA361258316 COSM1061856	89	R>Q	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs781900612 CA3446226	89	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361258345 rs1366673472	90	I>L		No	ClinGen TOPMed
rs782148660 CA3446227	90	I>T		No	ClinGen ExAC
rs781855381 CA3446229	91	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1433804601 CA361258361	91	D>H		No	ClinGen TOPMed
TCGA novel	91	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782595645 CA3446231	92	R>L		No	ClinGen ExAC
CA3446230 rs782465156	92	R>S		No	ClinGen ExAC TOPMed gnomAD
rs782568249 CA361258460	95	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3446233 rs782568249	95	L>Q		No	ClinGen ExAC TOPMed gnomAD
rs529252017 COSM1541722 CA3446235	96	C>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs1554121508 CA361258498	97	G>E		No	ClinGen gnomAD
CA361258495 COSM736336 CA361258489 rs1392326756	97	G>R	lung kidney prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA361258492 rs1392326756	97	G>W		No	ClinGen TOPMed gnomAD
CA3446236 rs782381789	98	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361258542 rs1554121517	99	S>R		No	ClinGen gnomAD
rs569133317 CA3446238	101	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs539262034 CA3446239	101	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA361258566 rs1554121521	102	C>R		No	ClinGen gnomAD
TCGA novel	102	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	103	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	105	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs566462269 CA3446242	106	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3446243 rs782003148	110	V>M		No	ClinGen ExAC gnomAD
rs533872769 CA3446245	113	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1343853054 CA361258715	113	P>L		No	ClinGen TOPMed gnomAD
rs533872769 CA3446246	113	P>T		No	ClinGen 1000Genomes ExAC gnomAD
rs369003662 CA3446247	116	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581643370 CA361258757	116	V>G		No	ClinGen Ensembl
rs1554121539 CA361258763	117	F>L		No	ClinGen gnomAD
CA3446250 rs374486178	118	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs782806333 CA3446248	118	H>R		No	ClinGen ExAC TOPMed gnomAD
rs782642948 CA3446251	119	V>G		No	ClinGen ExAC gnomAD
TCGA novel	120	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361258846 rs1554121548	121	V>A		No	ClinGen gnomAD
CA3446253 CA11982828 rs782460705	121	V>L		No	ClinGen ExAC TOPMed gnomAD
rs782460705 CA361258834	121	V>M		No	ClinGen ExAC TOPMed gnomAD
rs782579018 CA3446254	123	V>L		No	ClinGen ExAC gnomAD
CA361258923 rs1554121550	125	D>G		No	ClinGen gnomAD
rs545790169 CA128371857	128	D>G		No	ClinGen Ensembl
CA128371873 rs896701889	130	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA361259056 rs1581643759	131	P>L		No	ClinGen Ensembl
CA3446256 rs782429900	131	P>S		No	ClinGen ExAC gnomAD
rs554968998 CA128371897	132	V>I		No	ClinGen 1000Genomes
CA3446258 rs782256695	133	F>V		No	ClinGen ExAC gnomAD
rs868943817 CA361259116	134	P>L		No	ClinGen gnomAD
CA361259107 rs1431439199	134	P>S		No	ClinGen TOPMed gnomAD
CA361259142 rs1554121564	135	M>I		No	ClinGen gnomAD
rs1554121563 CA361259128	135	M>T		No	ClinGen gnomAD
rs377695293 CA3446259	135	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
COSM205041 rs781971806 CA3446260	136	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs371019133 CA3446261	136	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581643978 CA361259183	137	V>G		No	ClinGen Ensembl
rs782314428 CA3446262	137	V>I		No	ClinGen ExAC gnomAD
CA3446266 rs146287685 CA3446265 COSM1219575	138	K>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD NCI-TCGA
CA128371918 rs902709557	139	N>I		No	ClinGen Ensembl
rs781989124 CA3446267	140	L>Q		No	ClinGen ExAC gnomAD
rs782603795 CA3446269	143	S>*		No	ClinGen ExAC gnomAD
rs1554121583 CA361259329	143	S>Y		No	ClinGen gnomAD
rs1554121590 CA361259353	144	E>Q		No	ClinGen gnomAD
TCGA novel	145	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361259369 rs1554121592	145	S>T		No	ClinGen gnomAD
CA3446270 rs782739143	145	S>Y		No	ClinGen ExAC gnomAD
rs368118741 CA128371924	146	R>G		No	ClinGen ESP
CA3446271 rs781799825	146	R>L		No	ClinGen ExAC gnomAD
CA361259403 rs139627437	147	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446273 rs139627437	147	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs139627437 CA3446274	147	Q>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3446276 rs782644121	148	P>L		No	ClinGen ExAC TOPMed gnomAD
rs144280703 CA128371932	148	P>S		No	ClinGen ESP
CA3446278 rs782455687	151	R>P		No	ClinGen ExAC gnomAD
TCGA novel	155	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3446281 rs782405787	156	G>S		No	ClinGen ExAC gnomAD
rs1554121620 CA361259542	157	A>P		No	ClinGen gnomAD
CA3446284 rs557240435	159	D>G		No	ClinGen 1000Genomes ExAC gnomAD
rs781947710 CA3446285	161	D>A		No	ClinGen ExAC gnomAD
rs781947710 CA361259641	161	D>G		No	ClinGen ExAC gnomAD
rs563939423 CA3446286	162	I>T		No	ClinGen ExAC TOPMed gnomAD
CA128371965 rs111499856	163	G>E		No	ClinGen TOPMed
CA3446288 rs782708273 CA3446287	163	G>R		No	ClinGen ExAC TOPMed gnomAD
CA361259684 rs111499856	163	G>V		No	ClinGen TOPMed
rs782155880 CA3446289	165	N>K		No	ClinGen ExAC TOPMed gnomAD
CA3446292 rs35124371 COSM1061860	166	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3446291 rs35124371	166	S>W		No	ClinGen TOPMed
CA3446296 rs782584193	170	Y>*		No	ClinGen ExAC gnomAD
CA3446298 rs782723045	170	Y>*		No	ClinGen ExAC gnomAD
rs546101434 CA361259825	170	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA3446297 rs546101434	170	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA128371982 rs374513389	174	S>C		No	ClinGen ESP TOPMed
rs1554121645 CA361259896	176	E>K		No	ClinGen gnomAD
rs1554121649 CA361259929	178	F>C		No	ClinGen gnomAD
CA3446301 rs371671577	180	L>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA128372021 rs965302343	182	V>G		No	ClinGen gnomAD
rs1554121657 CA361259978	182	V>I		No	ClinGen gnomAD
rs1181981505 CA361260014	185	N>D		No	ClinGen TOPMed
CA361260043 rs1554121673	187	E>G		No	ClinGen gnomAD
rs782663776 CA3446302	187	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782260016 CA3446303	188	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782500534 CA3446304	191	S>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs199857246 CA128372037	192	L>F		No	ClinGen Ensembl
rs564667115 CA3446305	192	L>P		No	ClinGen 1000Genomes ExAC gnomAD
CA3446306 rs143901113	193	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA128372041 rs372016432	194	L>F		No	ClinGen ESP TOPMed gnomAD
rs983876946 CA128372052	195	V>A		No	ClinGen Ensembl
CA3446309 rs782302106	195	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1230159283 CA361260241	196	L>W		No	ClinGen TOPMed gnomAD
rs782409849 CA3446312	199	N>D		No	ClinGen ExAC gnomAD
rs782411180	199	N>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1439840316 CA361260330	199	N>K		No	ClinGen TOPMed gnomAD
rs782411180	199	N>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3446313 rs141036392	200	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361260384 rs782120718	202	R>P		No	ClinGen ExAC gnomAD
rs782120718 CA3446314	202	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs375139618 CA128372082	204	D>G		No	ClinGen ESP TOPMed
rs927009690 CA128372083	205	T>I		No	ClinGen TOPMed gnomAD
rs781955396 CA361260420	205	T>P		No	ClinGen ExAC gnomAD
CA3446316 rs781955396	205	T>S		No	ClinGen ExAC gnomAD
CA361260432 rs1393875873	206	P>A		No	ClinGen TOPMed
rs1163331311 CA361260439	206	P>H		No	ClinGen TOPMed gnomAD
rs1163331311 CA361260442	206	P>L		No	ClinGen TOPMed gnomAD
rs782046235 CA3446317	208	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1562181721 CA361260486	208	H>Q		No	ClinGen Ensembl
CA128372085 rs369589944	208	H>R		No	ClinGen ESP TOPMed
rs782046235 CA3446318	208	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs781883611 CA3446320	209	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA3446319 rs782251225	209	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs1378951068 CA361260528	210	L>S		No	ClinGen TOPMed
CA3446322 rs782758348	214	A>T		No	ClinGen ExAC gnomAD
TCGA novel	215	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3446323 rs781833245	216	D>E		No	ClinGen ExAC TOPMed gnomAD
COSM736334 rs1465290845 CA361260723	218	G>E	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs782466455 CA3446324	218	G>R		No	ClinGen ExAC gnomAD
CA361260737 rs1581646062	219	K>I		No	ClinGen Ensembl
CA361260754 rs782570230	220	P>A		No	ClinGen ExAC gnomAD
CA3446325 rs782570230	220	P>S		No	ClinGen ExAC gnomAD
CA361260795 rs781796006	221	E>G		No	ClinGen ExAC TOPMed gnomAD
rs781796006 CA3446326	221	E>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	223	T>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782680832 CA3446328	224	G>C		No	ClinGen ExAC gnomAD
rs375984847 CA3446329	225	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs375984847 CA3446330	225	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs782622621 CA3446331	226	T>A		No	ClinGen ExAC TOPMed gnomAD
CA3446332 rs373073076	227	Q>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs782326685 CA3446333	229	K>E		No	ClinGen ExAC TOPMed gnomAD
CA3446334 rs782030457	230	I>V		No	ClinGen ExAC
rs1562182134 CA361261058	231	T>A		No	ClinGen Ensembl
rs782143369 CA3446335	231	T>I		No	ClinGen ExAC gnomAD
CA128372210 rs782272543	232	V>I		No	ClinGen Ensembl
COSM1061866 CA3446336 rs782383281	233	L>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA361261175 rs1389986057	236	N>K		No	ClinGen TOPMed
rs1554121756 CA361261181	237	D>H		No	ClinGen gnomAD
CA361261228 rs1554121763	238	N>K		No	ClinGen gnomAD
rs377749394 CA3446338	238	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs781803444 CA361261252	239	A>D		No	ClinGen ExAC TOPMed gnomAD
rs782723863 CA361261243	239	A>P		No	ClinGen ExAC TOPMed gnomAD
rs782723863 CA3446339	239	A>S		No	ClinGen ExAC TOPMed gnomAD
CA361261240 rs782723863	239	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781803444 CA3446340	239	A>V		No	ClinGen ExAC TOPMed gnomAD
CA128372239 rs936870383	240	P>L		No	ClinGen TOPMed gnomAD
rs782045551 CA3446341	240	P>S		No	ClinGen ExAC gnomAD
CA3446342 rs782821105	241	A>V		No	ClinGen ExAC gnomAD
CA3446345 rs374257547	244	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446346 rs374257547	244	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA361261365 rs1554121771	245	T>K		No	ClinGen gnomAD
rs1554121775 CA361261395	247	Y>C		No	ClinGen gnomAD
rs1189907348 CA361261447	250	R>G		No	ClinGen TOPMed
rs1053967488 CA128372306	251	L>F		No	ClinGen gnomAD
CA3446350 rs782295263	251	L>S		No	ClinGen ExAC TOPMed gnomAD
rs1554121782 CA361261480	252	L>F		No	ClinGen gnomAD
CA361261525 rs1554121786	254	N>K		No	ClinGen gnomAD
CA128372308 rs782413136	254	N>S		No	ClinGen Ensembl
CA3446351 rs782400821	255	A>V		No	ClinGen ExAC gnomAD
CA3446353 rs145878786	256	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446352 rs17844252	256	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782352875 CA3446355	258	G>D		No	ClinGen ExAC gnomAD
rs781928400	258	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1019600841 CA128372309	259	T>N		No	ClinGen Ensembl
rs148995634 CA3446356	260	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs782630700 CA3446357	261	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1199727898 CA361261616	261	V>L		No	ClinGen TOPMed
COSM589707 CA128372343 rs994082843	263	T>I	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs782305894 CA3446358	264	V>F		No	ClinGen ExAC gnomAD
CA3446359 rs782305894	264	V>L		No	ClinGen ExAC gnomAD
rs1554121819 CA361261686 COSM205045	266	A>T	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1554121822 CA361261697	266	A>V		No	ClinGen gnomAD
CA361261705 rs868957551	267	T>I		No	ClinGen Ensembl
CA361261750 rs1301585258	270	D>H		No	ClinGen TOPMed gnomAD
rs952664867 CA128372367	272	G>R		No	ClinGen gnomAD
rs983887476 CA128372368	274	N>S		No	ClinGen Ensembl
CA361261830 rs1554121829	275	K>R		No	ClinGen gnomAD
CA361261899 rs1230635185	277	I>M		No	ClinGen TOPMed
rs1554121830 CA361261906	278	A>S		No	ClinGen gnomAD
CA361261932 rs1554121833	279	Y>H		No	ClinGen gnomAD
rs782776274 CA361262023	282	N>K		No	ClinGen ExAC gnomAD
rs781990436 CA3446363	283	T>K		No	ClinGen ExAC TOPMed gnomAD
rs781990436 CA3446362	283	T>M		No	ClinGen ExAC TOPMed gnomAD
CA361262058 rs1361472766	284	D>H		No	ClinGen TOPMed
rs782437392 CA3446366	285	M>I		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	285	M>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781808156 CA3446365	285	M>T		No	ClinGen ExAC gnomAD
CA361262089 rs1554121847	285	M>V		No	ClinGen gnomAD
rs17844253 CA3446368	286	S>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs17844253 CA3446367	286	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554121856 CA361262153	288	D>G		No	ClinGen gnomAD
rs3733709 VAR_048524 CA3446369	289	I>T		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1554121857 CA361262169	289	I>V		No	ClinGen gnomAD
CA361262206 rs1554121864	291	S>*		No	ClinGen gnomAD
rs1554121862 CA361262194	291	S>T		No	ClinGen Ensembl
CA3446370 rs782606319	294	H>R		No	ClinGen ExAC gnomAD
rs978364846 CA128372411	298	V>I		No	ClinGen TOPMed
CA361262423 rs1418174507	301	Q>L		No	ClinGen TOPMed
CA3446374 rs370933207	306	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs370933207 CA3446373	306	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs17844255 CA128372432	307	N>S		No	ClinGen Ensembl
TCGA novel	308	I>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782414359 CA3446375	308	I>M		No	ClinGen ExAC TOPMed gnomAD
rs924147913 CA128372444	308	I>T		No	ClinGen TOPMed
rs1554121874 CA361262577	308	I>V		No	ClinGen gnomAD
CA361262604 rs1554121877	309	D>Y		No	ClinGen gnomAD
CA128372451 rs782244607	311	E>K		No	ClinGen ExAC TOPMed gnomAD
CA3446377 rs782244607	311	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1484578726 CA361262707	313	S>G		No	ClinGen TOPMed
rs1554121883 CA361262716	313	S>N		No	ClinGen gnomAD
CA361262738 rs1554121887	314	K>Q		No	ClinGen gnomAD
rs781954887 CA361262773	315	S>*		No	ClinGen ExAC gnomAD
rs781954887 CA3446379	315	S>L		No	ClinGen ExAC gnomAD
CA361262767 rs1278406367	315	S>P		No	ClinGen TOPMed
rs1554121894 CA361262797	316	Y>*		No	ClinGen gnomAD
rs782702448 CA3446381	316	Y>C		No	ClinGen ExAC gnomAD
rs1053927999 CA128372470	316	Y>H		No	ClinGen Ensembl
CA3446382 rs200090365	317	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs782759775 CA361262836	318	I>N		No	ClinGen ExAC TOPMed gnomAD
rs782759775 CA3446384	318	I>T		No	ClinGen ExAC TOPMed gnomAD
VAR_021874 CA3446383 rs3733708	318	I>V		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3446385 rs781836341	319	Q>E		No	ClinGen ExAC gnomAD
CA3446386 rs782459087	320	V>I		No	ClinGen ExAC TOPMed gnomAD
CA3446387 rs782724131 COSM3409808	323	T>M	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1554121915 CA361262980	324	D>E		No	ClinGen gnomAD
CA361262972 rs1353989161	324	D>G		No	ClinGen TOPMed gnomAD
rs1353989161 CA361262974	324	D>V		No	ClinGen TOPMed gnomAD
rs148196865 CA128372481	326	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs146951816 CA3446388	328	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446389 rs146951816	328	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	329	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782510527 CA3446392	330	M>I		No	ClinGen ExAC gnomAD
CA3446391 rs782273094	330	M>T		No	ClinGen ExAC gnomAD
rs782672395 CA3446390	330	M>V		No	ClinGen ExAC gnomAD
rs138143542 CA3446393	331	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1581648778 CA361263137	332	D>V		No	ClinGen Ensembl
TCGA novel	334	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782325970 CA3446395	334	C>S		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	334	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554121944 CA361263205	335	T>R		No	ClinGen gnomAD
rs1554121948 CA361263214	336	V>I		No	ClinGen gnomAD
rs1554121948 CA361263217	336	V>L		No	ClinGen gnomAD
CA3446396 rs782580003	338	L>F		No	ClinGen ExAC gnomAD
rs1406650011 CA361263267	339	E>*		No	ClinGen TOPMed gnomAD
COSM1061874 CA361263261 rs1406650011	339	E>K	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs1562184152 CA361263301	340	I>T		No	ClinGen Ensembl
CA361263310 rs1554121955	341	V>M		No	ClinGen gnomAD
CA3446398 rs782389437	342	D>H		No	ClinGen ExAC gnomAD
rs782098091 CA3446400	348	P>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	351	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3446404 rs782045341	354	S>*		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	354	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361263677 rs1581649332	356	S>C		No	ClinGen Ensembl
CA361263713 rs1232566500	358	P>S		No	ClinGen TOPMed
rs781881144 CA3446406	360	L>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1202505238 CA361263779	361	E>D		No	ClinGen TOPMed
rs370205855 CA3446407	362	D>V		No	ClinGen ESP ExAC gnomAD
rs958561465 CA361263820	363	S>F		No	ClinGen TOPMed gnomAD
TCGA novel	363	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361263805 rs1323608017	363	S>T		No	ClinGen TOPMed gnomAD
rs958561465 CA128372531	363	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1554122000 CA361263844	365	L>V		No	ClinGen gnomAD
TCGA novel	366	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128372534 rs992529407	366	S>N		No	ClinGen Ensembl
rs1554122006 CA361263914	367	T>R		No	ClinGen gnomAD
CA3446409 rs373674603	368	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA
CA3446410 rs782478059	369	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361263966 rs1290587407	370	A>S		No	ClinGen TOPMed gnomAD
rs1290587407 COSM176943 CA361263962	370	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs782597355 CA3446411	370	A>V		No	ClinGen ExAC TOPMed gnomAD
CA361263987 rs782640012	371	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3446416 rs782357287	373	S>N		No	ClinGen ExAC gnomAD
TCGA novel	374	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372206309 CA3446418	374	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA361264103 rs1581649993	376	D>A		No	ClinGen Ensembl
CA361264117 rs1554122039	376	D>E		No	ClinGen gnomAD
CA361264096 rs1459793883	376	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1459793883 CA361264099	376	D>Y		No	ClinGen TOPMed
rs1554122041 CA361264138	377	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782306537 CA3446419 COSM205047	378	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA361264287 rs925654009	382	N>K		No	ClinGen TOPMed gnomAD
CA3446420 rs782026683	383	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1407472224 CA361264365	384	Q>*		No	ClinGen TOPMed
CA3446421 rs782137990	384	Q>H		No	ClinGen ExAC gnomAD
CA361264414 rs1175732642	385	V>I		No	ClinGen TOPMed
CA361264446 rs1489467507	386	T>A		No	ClinGen TOPMed
CA3446422 rs782400027	387	C>F		No	ClinGen ExAC gnomAD
CA361264608 rs1467501869	390	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1467501869 CA361264606	390	T>R		No	ClinGen TOPMed gnomAD
CA3446427 rs782055752	391	P>L		No	ClinGen ExAC gnomAD
rs781811725 CA3446426	391	P>S		No	ClinGen ExAC gnomAD
rs1270625936 CA361264674	392	H>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA128372675 rs782096760	392	H>R		No	ClinGen gnomAD
CA128372693 rs782803218	393	V>F		No	ClinGen ExAC TOPMed gnomAD
CA3446428 rs782803218	393	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361264687 rs782803218	393	V>L		No	ClinGen ExAC TOPMed gnomAD
CA361264735 rs1304325749	394	P>L		No	ClinGen TOPMed gnomAD
rs782625772 CA3446431	395	F>I		No	ClinGen ExAC TOPMed gnomAD
CA361264771 rs1554122092	395	F>L		No	ClinGen gnomAD
rs375377871 CA128372698	396	K>N		No	ClinGen ESP TOPMed
rs1302053906 CA361264779	396	K>Q		No	ClinGen TOPMed gnomAD
rs201585398 CA128372718	400	T>A		No	ClinGen Ensembl
CA361264940 rs1321170045	400	T>I		No	ClinGen TOPMed
rs781823322 CA3446433	401	F>I		No	ClinGen ExAC gnomAD
rs368374216 CA3446434	402	K>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554122100 CA361265053	403	N>S		No	ClinGen gnomAD
CA3446436 rs782292816	404	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1554122110 CA361265155	405	Y>C		No	ClinGen gnomAD
CA361265139 rs1554122105	405	Y>H		No	ClinGen gnomAD
TCGA novel	406	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128372740 rs138645965	408	V>L		No	ClinGen ESP TOPMed
COSM589695 CA361265268 rs1554122119	409	L>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA128372745 rs1047484049	411	S>R		No	ClinGen gnomAD
CA3446440 rs782361767	412	P>A		No	ClinGen ExAC TOPMed gnomAD
rs1452683213 CA361265420	414	D>N		No	ClinGen TOPMed
CA3446442 rs782205225	415	R>G		No	ClinGen ExAC gnomAD
rs782314655 CA3446443	415	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3446445 rs782040160 CA3446444	417	S>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC TOPMed gnomAD NCI-TCGA
rs111580112 CA128372754	418	V>A		No	ClinGen Ensembl
CA3446447 rs149312681	418	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149312681 CA3446446	418	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446448 rs573377233 COSM287627	419	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD
rs372311136 CA3446450	421	Y>C		No	ClinGen ESP ExAC gnomAD
CA3446449 rs782703795	421	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs540789660 CA3446451	422	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs781868454 CA3446453	422	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3446452 rs540789660	422	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361265843 rs1231379923	424	V>G		No	ClinGen TOPMed
rs1279226863 CA361265812	424	V>M		No	ClinGen TOPMed
CA361265870 rs1296125051	426	T>S		No	ClinGen TOPMed
CA128372783 rs1014002832	427	A>P		No	ClinGen Ensembl
rs782212000 CA3446456	427	A>V		No	ClinGen ExAC gnomAD
rs1466401935 CA361268598	428	R>P		No	ClinGen TOPMed gnomAD
CA361268582 rs1466401935	428	R>Q		No	ClinGen TOPMed gnomAD
rs998632844 CA128372804	429	D>A		No	ClinGen Ensembl
rs782301588 CA361268615	429	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3446459 rs782301588	429	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA3446461 rs371780452	430	G>A		No	ClinGen ESP ExAC gnomAD
rs782408810 CA3446460	430	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs17844259 CA3446462	431	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142880719 CA3446465	433	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446464 rs142880719	433	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376536820 CA3446467	436	W>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA361268911 rs376536820	436	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446466 rs782816418	436	W>G		No	ClinGen ExAC gnomAD
CA3446468 rs533106648	437	A>T		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	439	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361269011 rs1260307397	439	A>V		No	ClinGen TOPMed
CA3446472 rs782713590	440	S>G		No	ClinGen ExAC TOPMed gnomAD
VAR_048525 rs7701755 CA3446473	440	S>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs7701755 CA361269048	440	S>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446475 rs370096540	441	V>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs577444100 CA361269060	441	V>L		No	ClinGen ExAC gnomAD
CA3446474 rs577444100	441	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3446476 rs781874116	442	S>F		No	ClinGen ExAC gnomAD
rs1554122186 CA361269161	443	V>M		No	ClinGen gnomAD
CA361269248 rs1554122187	445	V>L		No	ClinGen gnomAD
TCGA novel	446	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782305354 CA3446480	448	V>A		No	ClinGen ExAC gnomAD
CA3446479 COSM1261255 rs782192647	448	V>M	lung Variant assessed as Somatic; 0.0 impact. liver oesophagus [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs374473436 CA3446482	449	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs782666755 CA3446481	449	N>S		No	ClinGen ExAC TOPMed gnomAD
CA361269399 rs1305664229	450	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA3446487 rs781941410	453	P>T		No	ClinGen ExAC gnomAD
CA3446488 rs782054123	454	A>S		No	ClinGen ExAC gnomAD
CA361269537 rs782054123	454	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361269571 rs1314796100	454	A>V		No	ClinGen TOPMed
rs868939985 CA361269634 COSM233056	456	S>L	Variant assessed as Somatic; impact. skin central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
rs1554122216 CA361269649	457	Q>E		No	ClinGen gnomAD
rs1415125623 CA361269657	457	Q>P		No	ClinGen TOPMed gnomAD
rs1554122218 CA361269708	458	S>Y		No	ClinGen gnomAD
CA361269725 rs1312440472	459	E>K		No	ClinGen TOPMed
CA3446490 rs781885871	460	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA361269854 rs1371799609	463	F>L		No	ClinGen TOPMed
CA361269931 rs1475704020	464	V>A		No	ClinGen TOPMed gnomAD
rs781821131 CA3446494 CA361269925	464	V>L		No	ClinGen ExAC gnomAD
CA3446493 rs781821131	464	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782569286 CA3446495	465	K>R		No	ClinGen ExAC TOPMed gnomAD
CA128373053 CA361270093 rs922814873	467	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1581652947 CA361270122	468	N>T		No	ClinGen Ensembl
rs782651284 CA3446498	469	P>A		No	ClinGen ExAC gnomAD
rs782651284 CA361270194	469	P>S		No	ClinGen ExAC gnomAD
CA3446500 rs782355104	470	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3446499 rs782236184	470	P>S		No	ClinGen ExAC gnomAD
CA361270276 rs1194686534	471	G>A		No	ClinGen TOPMed gnomAD
TCGA novel	471	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	472	C>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361270376 rs1554122246	473	H>Q		No	ClinGen gnomAD
rs1554122250 CA361270404	475	F>L		No	ClinGen gnomAD
TCGA novel	476	T>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782202213 CA3446502	476	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs1554122255 CA361270562	478	S>F		No	ClinGen gnomAD
rs782317211 CA3446503	479	A>T		No	ClinGen ExAC gnomAD
CA361270589 rs1554122256	479	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3446504 rs527490380	480	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782385485 CA3446506	481	D>E		No	ClinGen ExAC TOPMed gnomAD
rs868995021 CA361270624	481	D>N		No	ClinGen Ensembl
rs781988680 CA3446507	482	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361270754 rs1230044523	483	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM1061882 rs941404430 CA128373121	484	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs781790782 CA3446510	485	Q>*		No	ClinGen ExAC gnomAD
rs782788996 CA3446512	486	E>D		No	ClinGen ExAC gnomAD
rs782166217 CA3446511	486	E>G		No	ClinGen ExAC gnomAD
TCGA novel	486	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1581653520 CA361270960	488	A>S		No	ClinGen Ensembl
rs139431952 CA3446513	488	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA361271004 rs1328452691	489	L>P		No	ClinGen TOPMed gnomAD
rs1554122266 CA361271015	490	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782733330 CA361271051	491	S>C		No	ClinGen ExAC TOPMed gnomAD
CA3446515 rs782733330	491	S>F		No	ClinGen ExAC TOPMed gnomAD
CA361271081 rs1554122273	492	Y>C		No	ClinGen gnomAD
rs373853046 CA3446516	493	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs373853046 CA3446517	493	S>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1363976699 CA361271191	495	V>L		No	ClinGen TOPMed
rs1435507405 CA361271317	497	R>P		No	ClinGen TOPMed gnomAD
CA361271342 rs782575320	498	R>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3446519 rs782575320	498	R>P		No	ClinGen ExAC gnomAD
rs782575320 CA3446518	498	R>Q		No	ClinGen ExAC gnomAD
rs782536982 CA3446520	499	V>G		No	ClinGen ExAC gnomAD
rs1268823463 CA361271365	499	V>L		No	ClinGen TOPMed gnomAD
rs1268823463 CA361271359	499	V>M		No	ClinGen TOPMed gnomAD
CA3446525 rs567043012	501	E>G		No	ClinGen 1000Genomes
CA3446524 rs781931721	501	E>Q		No	ClinGen ExAC gnomAD
rs531269900 CA3446528	502	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531269900 CA3446527	502	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361271476 rs1554122295	502	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361271466 rs531269900	502	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782128283 CA3446530	503	A>V		No	ClinGen ExAC gnomAD
CA128373253 rs528768034	505	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554122299 CA361271566	505	S>P		No	ClinGen gnomAD
CA361271606 rs1554122306	506	S>N		No	ClinGen gnomAD
CA361271669 rs1554122310	508	V>L		No	ClinGen gnomAD
rs781795094 CA3446536	511	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA3446538 rs782560612	512	A>S		No	ClinGen ExAC gnomAD
rs782560612 CA3446537	512	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361271877 rs1554122323	514	S>N		No	ClinGen gnomAD
CA3446540 rs141107649	515	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA361271910 rs1554122326	515	G>S		No	ClinGen gnomAD
CA3446539 rs141107649	515	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs782614211 CA3446541	516	K>R		No	ClinGen ExAC gnomAD
rs782212948 CA3446542	519	A>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361272074 rs1386150414	519	A>P		No	ClinGen TOPMed
rs782690309 CA3446544	521	Q>*		No	ClinGen ExAC gnomAD
rs782279296 CA3446545	521	Q>R		No	ClinGen ExAC gnomAD
rs782384957 CA3446546	522	P>L		No	ClinGen ExAC TOPMed gnomAD
CA361272293 rs1554122342	526	E>G		No	ClinGen gnomAD
CA128373375 rs964267504	527	E>G		No	ClinGen Ensembl
CA128373373 rs1017296773	527	E>K		No	ClinGen TOPMed gnomAD
CA3446550 rs781939384	528	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	529	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361272374 rs1554122360	529	E>G		No	ClinGen gnomAD
rs375690529 CA3446552	532	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446555 rs782135685	537	A>E		No	ClinGen ExAC TOPMed gnomAD
CA361272685 rs782135685	537	A>G		No	ClinGen ExAC TOPMed gnomAD
rs781845951 CA3446557	538	R>C		No	ClinGen ExAC TOPMed
CA3446561 rs145590069	539	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA128373426 rs909930689	539	D>Y		No	ClinGen Ensembl
rs991420459 CA128373428	540	A>G		No	ClinGen TOPMed
rs991420459 CA361272813	540	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782640007 CA3446563	541	G>D		No	ClinGen ExAC gnomAD
rs781849256 CA3446564	542	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361272883 rs374629500	543	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446566 rs374629500	543	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446565 rs374629500	543	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1376843925 CA361272899	544	P>L		No	ClinGen TOPMed gnomAD
rs1562189220 CA361272923	545	L>P		No	ClinGen Ensembl
CA361272927 rs782195436	546	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3446567 rs782195436	546	G>S		No	ClinGen ExAC TOPMed gnomAD
rs782694897 CA3446569	548	N>K		No	ClinGen ExAC TOPMed gnomAD
rs782279925 CA3446570	549	V>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361273009 rs782279925 COSM1219567	549	V>M	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
COSM1433757 CA3446571 rs782401655	550	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs148243447 CA3446573	552	Q>K		No	ClinGen ESP ExAC gnomAD
rs567006708 CA361273113	554	F>I		No	ClinGen 1000Genomes ExAC gnomAD
rs567006708 CA3446574	554	F>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1554122419 CA361273166	555	V>A		No	ClinGen gnomAD
rs1241489643 CA361273160	555	V>L		No	ClinGen TOPMed gnomAD
rs199682432 CA3446577	557	D>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	558	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128373482 rs915930472	558	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361273265 rs1554122424	559	N>S		No	ClinGen gnomAD
CA361273262 rs1554122424	559	N>T		No	ClinGen gnomAD
rs782103564 CA361273276	560	D>N		No	ClinGen ExAC gnomAD
CA3446579 rs782103564	560	D>Y		No	ClinGen ExAC gnomAD
CA128373508 rs200608373	562	A>E		No	ClinGen Ensembl
rs190722768 CA3446580	562	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs934549073 CA361273375	565	L>V		No	ClinGen TOPMed
TCGA novel	568	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758831845 CA3446583	568	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3446584 rs758831845	568	P>R		No	ClinGen ExAC TOPMed gnomAD
CA3446582 rs782451626	568	P>S		No	ClinGen ExAC gnomAD
CA3446585 rs782553261	569	R>G		No	ClinGen ExAC gnomAD
CA361273456 rs782553261	569	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782648396 CA3446586 COSM589691	570	V>M	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1357765961 CA361273496	571	G>R		No	ClinGen TOPMed
CA361273492 rs1357765961	571	G>S		No	ClinGen TOPMed
CA3446587 rs544698058	572	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782605739 CA3446589	573	I>V		No	ClinGen ExAC TOPMed gnomAD
rs892863974 CA361273547	574	G>C		No	ClinGen gnomAD
CA128373546 rs892863974	574	G>R		No	ClinGen gnomAD
rs145535421 CA3446590	575	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446591 rs782417048	576	A>S		No	ClinGen ExAC TOPMed gnomAD
CA361273576 rs782417048	576	A>T		No	ClinGen ExAC TOPMed gnomAD
CA361273618 rs1554122449	577	V>A		No	ClinGen gnomAD
rs1418647702 CA361273593	577	V>M		No	ClinGen TOPMed
rs1166121837 CA361273642	578	S>R		No	ClinGen TOPMed gnomAD
CA361273646 rs1554122453	579	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs782015955 CA3446592	580	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361273735 TCGA novel rs1581656451	581	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
rs1187038094 CA361273781	582	P>L		No	ClinGen TOPMed
CA3446595 rs780506250	582	P>S		No	ClinGen ExAC gnomAD
rs782172179 CA3446599	583	R>L		No	ClinGen ExAC TOPMed gnomAD
rs782172179 CA361273809	583	R>P		No	ClinGen ExAC TOPMed gnomAD
rs782172179 CA361273803 COSM1433759	583	R>Q	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs375111738 CA3446598	583	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	584	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782235300 CA128373559	585	V>A		No	ClinGen TOPMed gnomAD
rs1206653490 CA361273846	585	V>L		No	ClinGen TOPMed gnomAD
rs1272838585 CA361273873	586	G>S		No	ClinGen TOPMed
rs368124157 CA3446601	587	A>V		No	ClinGen ESP ExAC gnomAD
CA128373561 rs901539492	589	H>Q		No	ClinGen Ensembl
rs1554122488 CA361274010	590	V>G		No	ClinGen gnomAD
CA361273995 rs577958641 CA361273999	590	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3446602 rs577958641	590	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3446603 rs782761119	591	V>I		No	ClinGen ExAC gnomAD
rs782454635 CA3446606	592	A>P		No	ClinGen ExAC gnomAD
CA3446605 rs782454635	592	A>T		No	ClinGen ExAC gnomAD
rs1554122491 CA361274066 COSM403822	592	A>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs782276594 CA3446607	593	K>T		No	ClinGen ExAC gnomAD
CA361274118 rs1353160652	594	V>G		No	ClinGen TOPMed
rs1299551760 CA361274146	595	R>C		No	ClinGen TOPMed gnomAD
rs1299551760 CA361274136	595	R>S		No	ClinGen TOPMed gnomAD
CA361274229 rs1462941214	598	D>G		No	ClinGen TOPMed gnomAD
rs782634798 CA3446609	598	D>H		No	ClinGen ExAC TOPMed gnomAD
CA361274233 rs1462941214	598	D>V		No	ClinGen TOPMed gnomAD
CA3446610 rs782219037	599	A>T		No	ClinGen ExAC gnomAD
CA3446612 rs781934902	600	D>E		No	ClinGen ExAC gnomAD
CA361274302 rs1562190625	600	D>Y		No	ClinGen Ensembl
CA3446613 rs782171071	601	S>*		No	ClinGen ExAC TOPMed gnomAD
rs782171071 CA361274324	601	S>L		No	ClinGen ExAC TOPMed gnomAD
CA361274343 rs1554122512	602	G>A		No	ClinGen gnomAD
CA3446615 rs372042203	604	N>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA361274396 rs1411845849	604	N>K		No	ClinGen TOPMed gnomAD
CA361274421 rs982936754	605	A>G		No	ClinGen TOPMed
rs782140638 CA3446616	605	A>S		No	ClinGen ExAC TOPMed gnomAD
CA128373611 rs982936754	605	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361274438 rs1554122524	606	W>*		No	ClinGen gnomAD
rs1554122523 CA361274428	606	W>R		No	ClinGen gnomAD
rs1470197301 CA361274449	607	L>V		No	ClinGen TOPMed
CA361274484 rs1274408864 COSM3609586	608	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA361274486 rs1274408864	608	S>W		No	ClinGen TOPMed gnomAD
rs782082974 COSM736322 CA3446619	609	Y>*	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361274511 rs1308617274	609	Y>C		No	ClinGen TOPMed
rs1554122531 CA361274554	610	E>G		No	ClinGen gnomAD
CA3446621 rs781793277	613	P>L		No	ClinGen ExAC gnomAD
CA3446620 rs782709763	613	P>S		No	ClinGen ExAC gnomAD
rs1554122539 CA361274710	614	G>A		No	ClinGen gnomAD
CA3446622 rs782532560 COSM1541708	614	G>R	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1554122539 CA361274714	614	G>V		No	ClinGen gnomAD
CA361274701 rs782532560	614	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1554122543 CA361274728	615	T>I		No	ClinGen gnomAD
CA361274720 rs1554122542	615	T>P		No	ClinGen gnomAD
CA3446624 rs142788061	616	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA361274741 rs142788061	616	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3446623 rs142788061	616	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554122549 CA361274766	617	G>C		No	ClinGen gnomAD
rs1554122549 CA361274771	617	G>S		No	ClinGen gnomAD
rs376717092 CA3446625	618	A>V		No	ClinGen ESP ExAC gnomAD
TCGA novel	619	R>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1061900 rs1554122554 CA361274824	619	R>H	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1554122554 CA361274825	619	R>P		No	ClinGen gnomAD
CA361274812 rs1442523455	619	R>S		No	ClinGen TOPMed
CA361274864 rs782603015	620	I>M		No	ClinGen ExAC TOPMed gnomAD
rs782186555 CA3446627	621	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1554122562 CA361274935	623	R>G		No	ClinGen gnomAD
CA3446630 rs782285589	623	R>L		No	ClinGen ExAC gnomAD
rs1346757216 CA361275036	626	L>P		No	ClinGen TOPMed
rs781941927 CA3446635	627	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs782345607 CA3446634	627	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs782345607 CA361275075	627	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA361275089 rs1407582648	628	T>P		No	ClinGen TOPMed gnomAD
rs868930578 CA361275131	629	G>E		No	ClinGen Ensembl
rs782050127 CA3446636	629	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3446637 rs782438161	633	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs139788338 CA361275267	635	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs139788338 CA3446641	635	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA128373703 rs950112713	637	L>R		No	ClinGen TOPMed gnomAD
CA3446642 rs781825644	637	L>V		No	ClinGen ExAC gnomAD
CA128373705 rs981760111	638	D>E		No	ClinGen Ensembl
CA361275337 rs1217002511	638	D>G		No	ClinGen TOPMed
rs1581658412 CA361275370	639	E>D		No	ClinGen Ensembl
rs1554122584 CA361275440	642	A>D		No	ClinGen gnomAD
CA3446644 rs142727818	643	P>A		No	ClinGen ExAC gnomAD
CA3446645 rs781899440	643	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361275459 rs781899440	643	P>R		No	ClinGen ExAC TOPMed gnomAD
CA128373708 rs142727818	643	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
RCV000122560 CA232330 rs386352345	644	R>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA361275481 rs1554122591	644	R>P		No	ClinGen gnomAD
rs781861660 CA3446647	645	H>R		No	ClinGen ExAC gnomAD
CA361275560 rs1554122593	646	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3446648 rs782496418	646	R>H		No	ClinGen ExAC TOPMed gnomAD
CA361275570 rs782496418	646	R>L		No	ClinGen ExAC TOPMed gnomAD
rs149374718 CA3446649	647	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3446652 rs782677776	649	V>M		No	ClinGen ExAC gnomAD
rs782366845 CA3446654	653	D>A		No	ClinGen ExAC gnomAD
CA361275733 rs1554122600	653	D>N		No	ClinGen gnomAD
CA361275754 rs782366845	653	D>V		No	ClinGen ExAC gnomAD
CA3446655 rs781969076	654	H>N		No	ClinGen ExAC gnomAD
rs200661884 CA128373730	654	H>Q		No	ClinGen gnomAD
CA3446656 rs782083603	655	G>R		No	ClinGen ExAC gnomAD
CA361275906 rs1554122607	657	P>H		No	ClinGen gnomAD
rs1581658956 CA361275976	660	T>P		No	ClinGen Ensembl
CA3446658 rs781920190	661	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3446659 rs17844261 COSM448731	662	T>M	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA361276064 rs1554122631	663	A>D		No	ClinGen gnomAD
CA361276059 rs1554122630	663	A>S		No	ClinGen gnomAD
TCGA novel	663	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	665	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361276146 rs781991461	666	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3446662 rs782115337	667	V>M		No	ClinGen ExAC gnomAD
rs1554122639 CA361276188	668	S>L		No	ClinGen gnomAD
rs782739618 CA3446663	670	V>G		No	ClinGen ExAC gnomAD
rs1485763647 CA361276206	670	V>M		No	ClinGen TOPMed gnomAD
TCGA novel	675	A>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782463768 CA3446665	675	A>T		No	ClinGen ExAC gnomAD
rs1212593321 CA361276372	676	P>H		No	ClinGen TOPMed
rs148554584 CA3446666	676	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781909871 CA3446667	677	K>N		No	ClinGen ExAC gnomAD
rs782531842 CA3446668	678	A>T		No	ClinGen ExAC gnomAD
rs1554122661 CA3446670	679	S>W		No	ClinGen Ensembl
rs1554122668 COSM589687 CA361276476	680	S>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs782475199 CA361276464	680	S>P		No	ClinGen ExAC TOPMed gnomAD
rs782475199 CA3446673	680	S>T		No	ClinGen ExAC TOPMed gnomAD
rs1296238860 CA361276523	682	A>P		No	ClinGen TOPMed gnomAD
rs1296238860 CA361276521	682	A>T		No	ClinGen TOPMed gnomAD
CA128373804 rs782357905	683	S>F		No	ClinGen Ensembl
CA3446674 rs782577100	684	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3446676 rs782417260	687	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361276637 rs1581659688	687	T>P		No	ClinGen Ensembl
CA361276653 rs782417260	687	T>R		No	ClinGen ExAC gnomAD
rs564787047 CA3446678	689	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs782081759 CA3446681	692	A>V		No	ClinGen ExAC gnomAD
rs781928066 CA3446683	694	V>M		No	ClinGen ExAC
CA3446684 rs782172629	695	D>G		No	ClinGen ExAC gnomAD
rs782799500 CA3446685	696	V>I		No	ClinGen ExAC TOPMed gnomAD
CA361276910 rs1554122687	698	V>G		No	ClinGen gnomAD
rs781851356 CA3446686	698	V>L		No	ClinGen ExAC gnomAD
rs781851356 CA361276899	698	V>M		No	ClinGen ExAC gnomAD
CA361276947 rs1312324296	700	L>*		No	ClinGen TOPMed
rs1554122693 CA361276956	700	L>F		No	ClinGen gnomAD
rs1375244170 CA361276994	702	V>F		No	ClinGen TOPMed
rs145031481 CA3446690	703	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs782683295 CA3446691	704	I>V		No	ClinGen ExAC gnomAD
CA361277087 rs782516303	706	A>E		No	ClinGen ExAC gnomAD
TCGA novel	706	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421917213 CA361277083	706	A>T		No	ClinGen TOPMed
CA3446693 rs782516303	706	A>V		No	ClinGen ExAC gnomAD
TCGA novel	707	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3446696 rs782343160	708	S>C		No	ClinGen ExAC gnomAD
CA3446697 rs782343160	708	S>F		No	ClinGen ExAC gnomAD
TCGA novel	709	S>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361277137 rs1190601909	709	S>R		No	ClinGen TOPMed gnomAD
CA361277193 rs1581660314	711	L>W		No	ClinGen Ensembl
rs782428668 CA3446699	713	L>F		No	ClinGen ExAC gnomAD
CA361277239 rs1485778021	715	L>M		No	ClinGen TOPMed gnomAD
rs1485778021 CA361277242	715	L>V		No	ClinGen TOPMed gnomAD
rs1481348508 CA361277319	719	T>I		No	ClinGen TOPMed gnomAD
TCGA novel	720	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3446704 rs782740317	722	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs372773080 COSM1219569 CA361277364	722	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361277426 rs1356277408	725	A>S		No	ClinGen TOPMed
rs781949159 CA3446705 COSM1261257	725	A>V	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3446706 rs782056345	727	P>L		No	ClinGen ExAC gnomAD
CA361277461 rs1554122766	728	T>A		No	ClinGen gnomAD
CA361277488 rs547051375	729	E>*		No	ClinGen 1000Genomes ExAC gnomAD
rs782777686 CA3446710 CA3446711	729	E>D		No	ClinGen ExAC gnomAD
CA3446709 rs547051375	729	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs782489307 CA3446712	730	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3446713 rs782603912	732	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1554122787 CA361277550	732	C>S		No	ClinGen gnomAD
CA3446715 rs781917643	734	P>L		No	ClinGen ExAC gnomAD
rs781917643 CA128373925	734	P>Q		No	ClinGen ExAC gnomAD
CA3446717 rs782279690	735	G>A		No	ClinGen ExAC gnomAD
TCGA novel	735	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782612711 CA3446719	737	P>H		No	ClinGen ExAC gnomAD
CA361277638 rs1554122792	737	P>T		No	ClinGen gnomAD
CA3446720 rs1554122799	738	T>P		No	ClinGen Ensembl
CA128373961 rs369771411	738	T>R		No	ClinGen Ensembl
rs1554122804 CA361277674	739	L>V		No	ClinGen Ensembl
CA361277731 rs1554122806	742	S>C		No	ClinGen gnomAD
rs1554122806 CA361277733	742	S>F		No	ClinGen gnomAD
rs782209415 COSM736318 CA128373968 CA3446722	743	S>R	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3446725 rs781912218	744	A>E		No	ClinGen ExAC gnomAD
CA3446724 rs781912218	744	A>G		No	ClinGen ExAC gnomAD
rs1554122811 CA361277782	745	V>L		No	ClinGen gnomAD
CA361277806 rs369373965 CA3446727	746	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA361277807 rs369373965	746	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	748	W>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361277924 rs1554122823	749	S>L		No	ClinGen gnomAD
CA361277906 rs1194770937	749	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1554122826 CA361277929	750	Y>N		No	ClinGen gnomAD
TCGA novel	751	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361278008 rs1214042918	751	S>L		No	ClinGen TOPMed
rs1554122835 CA361278056	753	Q>*		No	ClinGen gnomAD
rs372857774 CA3446733	753	Q>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
CA3446734 rs781912049	754	R>K		No	ClinGen ExAC gnomAD
rs782807269 CA3446735	755	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA361278111 rs1283758442	755	Q>L		No	ClinGen TOPMed
rs1337823109 CA361278128	756	Q>K		No	ClinGen TOPMed
rs1581661706 CA361278149	757	R>K		No	ClinGen Ensembl
CA361278199 rs1307758444	758	V>A		No	ClinGen TOPMed
CA361278202 rs1307758444	758	V>G		No	ClinGen TOPMed
rs781860611 CA3446738	758	V>L		No	ClinGen ExAC gnomAD
rs781860611 CA3446737	758	V>M		No	ClinGen ExAC gnomAD
CA3446740 rs782177204	759	C>*		No	ClinGen ExAC gnomAD
rs2240694 CA361278213	759	C>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs2240694 VAR_021875 CA3446739	759	C>Y		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3446742 rs782674659	761	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA128374009 rs372995948	762	E>A		No	ClinGen ESP TOPMed
CA3446743 CA361278295 rs782257079	762	E>D		No	ClinGen ExAC gnomAD
rs1562194526 CA361278338	763	G>E		No	ClinGen Ensembl
rs1562194564 CA361278354	764	L>V		No	ClinGen Ensembl
rs140331962 CA3446745	765	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs782376383 CA3446744	765	P>S		No	ClinGen ExAC gnomAD
rs1581662033 CA361278397	766	K>Q		No	ClinGen Ensembl
CA3446746 rs782087846	768	D>N		No	ClinGen ExAC gnomAD
rs377026931 CA3446747	769	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA361280253 rs1554122852	770	M>T		No	ClinGen gnomAD
CA3446749 rs782173902	773	S>T		No	ClinGen ExAC gnomAD
CA3446750 rs782792820	774	P>A		No	ClinGen ExAC TOPMed gnomAD
rs782792820 CA361280303	774	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1554122865 CA361280329	776	L>P		No	ClinGen gnomAD
CA3446751 rs781877015	778	P>A		No	ClinGen ExAC
rs560711675 CA128374571	778	P>L		No	ClinGen gnomAD
CA361280349 rs560711675	778	P>R		No	ClinGen gnomAD
CA361280355 rs1562194851	779	C>G		No	ClinGen Ensembl
rs1554122870 CA361280366	780	P>A		No	ClinGen gnomAD
rs782740421 CA3446753	781	I>T		No	ClinGen ExAC gnomAD
rs782432564 CA3446756 CA3446755	782	S>R		No	ClinGen ExAC TOPMed gnomAD
rs777744369 CA361280408	783	R>L		No	ClinGen ExAC TOPMed gnomAD
rs777744369 CA3446758	783	R>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	783	R>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374412215 CA3446759	785	R>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554122885 CA361280432	785	R>S		No	ClinGen gnomAD
rs782622093 CA3446760	787	E>V		No	ClinGen ExAC gnomAD
CA3446761 rs782224885	789	Q>E		No	ClinGen ExAC gnomAD
rs1554122889 CA361280495	790	D>G		No	ClinGen gnomAD
CA128374614 rs898664223	791	V>A		No	ClinGen gnomAD
CA3446762 rs782466651	792	D>A		No	ClinGen ExAC gnomAD
rs1306203317 CA361280525	793	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361280526 rs1306203317	793	V>L		No	ClinGen TOPMed
rs782597617 CA3446763	794	D>V		No	ClinGen ExAC TOPMed gnomAD
rs1321959847 CA361280568	797	A>T		No	ClinGen TOPMed gnomAD
CA3446764 rs782182345	797	A>V		No	ClinGen ExAC TOPMed gnomAD
CA3446765 rs782421319	798	K>E		No	ClinGen ExAC gnomAD
rs376686641 CA3446766	798	K>T		No	ClinGen ExAC TOPMed gnomAD
rs782073950 CA3454452	799	P>R		No	ClinGen ExAC gnomAD
CA361259520 rs1490306705	799	P>S		No	ClinGen TOPMed
rs374951627 CA3454453	800	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs781913955 CA3454454	800	R>L		No	ClinGen ExAC gnomAD
CA3454455 rs781913955	800	R>Q		No	ClinGen ExAC gnomAD
rs782109224 CA3454458	805	D>H		No	ClinGen ExAC
COSM3696815 COSM3696819 COSM3696826 COSM3696817 CA3454459 COSM3696814 COSM3696822 COSM3696816 COSM3696828 COSM3696812 COSM3696820 rs782774245 COSM3696813 COSM3696823 COSM3696825 COSM3696821 COSM3696827 COSM3696818 COSM3696824	806	W>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361259640 rs782774245	806	W>S		No	ClinGen ExAC gnomAD
CA3454460 rs141879545	807	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454463 rs781815387	810	A>D		No	ClinGen ExAC TOPMed gnomAD
rs138901709 CA3454464	811	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs782686641 CA3454465	812	L>P		No	ClinGen ExAC gnomAD
rs1363421000 CA361259736	813	R>I		No	ClinGen TOPMed
rs1586790986 CA361259751	814	A>G		No	ClinGen Ensembl
CA3454466 rs782253140	815	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3454467 rs782336746	816	M>V		No	ClinGen ExAC
CA361259787 rs1554240128	817	H>N		No	ClinGen gnomAD
rs149397164 CA3454468	818	S>G		No	ClinGen ESP ExAC gnomAD
rs782426631 CA3454484	819	S>A		No	ClinGen ExAC TOPMed gnomAD
rs782587733 CA3454485	819	S>C		No	ClinGen ExAC gnomAD
rs782426631 CA361260538	819	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1181664726 CA361260559	820	V>A		No	ClinGen TOPMed gnomAD
CA361260577 rs1554244276	821	H>P		No	ClinGen gnomAD
COSM1062442 COSM1062448 COSM1062450 rs782273708 COSM1062445 COSM1062454 COSM1062455 COSM1062443 COSM1062452 COSM1062456 COSM1062457 COSM1062451 COSM1062453 COSM1062449 COSM1062447 CA3454486 COSM1062444	821	H>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3454488 rs782634646	823	E>G		No	ClinGen ExAC gnomAD
CA3454487 rs782419098	823	E>Q		No	ClinGen ExAC gnomAD
rs147537783 CA3454489	824	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs981642614 CA128362369	825	A>T		No	ClinGen Ensembl
rs782347331 CA3454490	826	G>D		No	ClinGen ExAC TOPMed gnomAD
CA361260711 rs1468199443	827	I>V		No	ClinGen TOPMed
rs555523473 CA3454493	829	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139355257 CA3454492	829	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782025005 CA3454494	831	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361260802 rs1278779763	832	P>T		No	ClinGen TOPMed gnomAD
CA3454495 rs201991205	834	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454497 rs201572428	836	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3454496 rs782766562	836	D>V		No	ClinGen ExAC
rs1554244431 CA361260933	838	Q>R		No	ClinGen gnomAD
CA3454498 rs782094765	839	W>C		No	ClinGen ExAC gnomAD
CA3454499 RCV000950135 rs79247475	840	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA128362405 rs369053351	840	P>T		No	ClinGen ESP TOPMed gnomAD
rs1554244455 CA361260996	841	T>A		No	ClinGen gnomAD
CA3454501 rs782544627	842	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3454502 rs577838197	844	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3454504 rs781852534	844	S>I		No	ClinGen ExAC gnomAD
rs781852534 CA3454503	844	S>N		No	ClinGen ExAC gnomAD
rs782605920 CA3454505	844	S>R		No	ClinGen ExAC gnomAD
rs199851685 CA3454506	846	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3454507 rs782437404	847	P>A		No	ClinGen ExAC gnomAD
rs560422677 CA3454508	847	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs560422677 CA3454509	847	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361261129 rs782437404	847	P>S		No	ClinGen ExAC gnomAD
rs782179145 CA3454531	848	E>G		No	ClinGen ExAC gnomAD
CA3454532 rs782321757	851	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554262240 CA361268348	853	E>G		No	ClinGen gnomAD
rs781996586 CA3454536	859	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	860	A>V	lung prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1588246273 CA361268557	862	V>G		No	ClinGen Ensembl
CA3454540 rs782068657	862	V>I		No	ClinGen ExAC gnomAD
rs1563727066 CA361268679	866	S>N		No	ClinGen Ensembl
COSM139598 COSM139601 COSM139604 COSM139606 COSM139609 COSM139603 COSM139600 COSM139611 COSM139608 rs1554262287 COSM139599 COSM139607 COSM139602 COSM139605 COSM139610 CA361268865	872	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs900919931 CA128372514	872	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554262289 CA361268920	874	G>D		No	ClinGen gnomAD
CA3454542 rs575518914	876	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1175529844 CA361268995	877	K>R		No	ClinGen TOPMed gnomAD
CA3454543 rs782119637	879	S>C		No	ClinGen ExAC gnomAD
CA3454546 rs552954748	880	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552954748 CA3454545	880	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373683237 CA3454547	881	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486746921 CA361269173	882	G>S		No	ClinGen TOPMed
CA128372547 rs1057913	886	D>A		No	ClinGen Ensembl
rs371269236 CA3454551	886	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454552 rs782334415	887	K>I		No	ClinGen ExAC TOPMed gnomAD
CA3454553 rs782623559	890	I>V		No	ClinGen ExAC gnomAD
CA3454555 rs782328874	891	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3454556 rs200822345	892	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454559 rs782009776	896	I>M		No	ClinGen ExAC TOPMed gnomAD
rs142720081 CA361269729	896	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3454558 rs142720081	896	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782087059 CA3454560	897	I>F		No	ClinGen ExAC gnomAD
rs1289763016 CA361269834	899	I>V		No	ClinGen TOPMed
rs760426957 CA3454562	900	R>Q		No	ClinGen ExAC gnomAD
COSM1166265 COSM1166271 COSM1166266 COSM1166268 COSM1166267 COSM1166273 COSM1166276 COSM1166277 COSM1166272 COSM1166264 COSM1166279 rs147351924 CA3454561 COSM1166275 COSM1166269 COSM1166278 COSM1166270 COSM1166274	900	R>W	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361269875 rs1554262408	901	Q>K		No	ClinGen gnomAD
CA361269953 rs1554262420	903	P>A		No	ClinGen gnomAD
CA361269962 rs1359138927	903	P>R		No	ClinGen TOPMed gnomAD
rs1314860754 CA361269972	904	T>A		No	ClinGen TOPMed
CA361270002 rs1554262437	905	N>K		No	ClinGen TOPMed
CA3454564 rs148436868	906	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554262456 CA361270119	908	I>T		No	ClinGen gnomAD
rs781853535 CA3454565	908	I>V		No	ClinGen ExAC TOPMed gnomAD
rs529364872 CA128372646	909	D>E		No	ClinGen Ensembl
CA3454567 rs142570778	909	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA128372638 rs782057926	909	D>Y		No	ClinGen TOPMed gnomAD
CA3454568 rs781835321	910	K>N		No	ClinGen ExAC gnomAD
rs782451974 CA3454569	913	F>Y		No	ClinGen ExAC gnomAD
CA3454570 rs782578873	915	T>I		No	ClinGen ExAC
rs782274123 CA3454571	916	F>S		No	ClinGen ExAC gnomAD
COSM216699 COSM216705 CA3454573 COSM216710 rs782642898 COSM1158471 COSM216696 COSM216700 COSM216702 COSM216709 COSM216704 COSM216698 COSM216697 COSM216706 COSM216707 COSM216701 COSM216703 COSM216708	917	G>S	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3454574 rs782270689	919	K>M		No	ClinGen ExAC gnomAD
rs782270689 CA361270554	919	K>R		No	ClinGen ExAC gnomAD
rs1259591783 CA361270565	920	E>Q		No	ClinGen TOPMed
CA361270593 rs1554262487	921	E>D		No	ClinGen gnomAD
CA3454575 rs782348993	922	T>I		No	ClinGen ExAC gnomAD
rs781972089 CA3454577	923	K>E		No	ClinGen ExAC gnomAD
rs1554262492 CA361270633	923	K>R		No	ClinGen gnomAD
rs374660085 CA3454578	928	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361270828 rs1554262513	929	K>R		No	ClinGen gnomAD
CA3454579 rs782413551	930	K>R		No	ClinGen ExAC TOPMed gnomAD
rs782413551 CA361270853	930	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1307653192 CA361270984	933	K>N		No	ClinGen TOPMed
CA128372721 rs184181976	933	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1554262529 CA361271070	936	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782776948 CA3454583	938	K>N		No	ClinGen ExAC gnomAD
CA3454584 rs781954349	941	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361271296 rs1295693430	942	N>D		No	ClinGen TOPMed
rs1554262551 CA361271322	942	N>K		No	ClinGen gnomAD
CA361271306 rs1415929182	942	N>S		No	ClinGen TOPMed
CA128372734 rs958247947	943	S>G		No	ClinGen Ensembl
CA128372735 rs17855798	943	S>N		No	ClinGen Ensembl
COSM1434122 COSM1434119 CA3454585 COSM1434134 COSM1434133 COSM1434130 COSM1434131 COSM1434125 COSM1434126 COSM1434124 COSM1434127 COSM1434129 COSM1434121 COSM1434120 COSM1434123 rs199928168 COSM1434128 COSM1434132	944	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361271405 rs1301104421	945	T>A		No	ClinGen TOPMed
CA361271440 rs1554262572	946	D>E		No	ClinGen gnomAD
CA361271462 rs1463725058	947	N>Y		No	ClinGen TOPMed

No associated diseases with Q9Y5H8

11 regional properties for Q9Y5H8

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	338 - 348	IPR020894-2
conserved_site	Cadherin conserved site	443 - 453	IPR020894-3
conserved_site	Cadherin conserved site	553 - 563	IPR020894-4
domain	Cadherin, C-terminal catenin-binding domain	800 - 933	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.

45 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
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
Q9UN75	PCDHA12	Protocadherin alpha-12	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
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
MLFSWREDPG	AQCLLLSLLL	LAASEVGSGQ	LHYSVSEEAK	HGTFVGRIAQ	DLGLELAELV
70	80	90	100	110	120
PRLFRVASKR	HGDLLEVNLQ	NGILFVNSRI	DREELCGRSA	ECSIHLEVIV	DRPLQVFHVE
130	140	150	160	170	180
VEVKDINDNA	PVFPMAVKNL	FISESRQPGS	RFSLEGASDA	DIGTNSLLTY	SLDSTEYFTL
190	200	210	220	230	240
DVKRNDEEIK	SLGLVLKKNL	NREDTPKHYL	LITAIDGGKP	ELTGTTQLKI	TVLDVNDNAP
250	260	270	280	290	300
AFERTIYKVR	LLENAPNGTL	VVTVNATDLD	EGVNKDIAYS	FNTDMSADIL	SKFHLDPVNG
310	320	330	340	350	360
QISVKGNIDF	EESKSYEIQV	EATDKGNPPM	SDHCTVLLEI	VDINDNVPEL	VIQSLSLPVL
370	380	390	400	410	420
EDSPLSTVIA	LISVSDRDSG	VNGQVTCSLT	PHVPFKLVST	FKNYYSLVLD	SPLDRESVSA
430	440	450	460	470	480
YELVVTARDG	GSPSLWATAS	VSVEVADVND	NAPAFSQSEY	TVFVKENNPP	GCHIFTVSAR
490	500	510	520	530	540
DADAQENALV	SYSLVERRVG	ERALSSYVSV	HAESGKVYAL	QPLDHEELEL	LQFQVSARDA
550	560	570	580	590	600
GVPPLGSNVT	LQVFVLDEND	NAPALLMPRV	GGIGGAVSEL	VPRSVGAGHV	VAKVRAVDAD
610	620	630	640	650	660
SGYNAWLSYE	LQPGTGGARI	PFRVGLYTGE	ISTTRALDEV	DAPRHRLLVL	VKDHGEPSLT
670	680	690	700	710	720
ATATVLVSLV	ESGQAPKASS	QASAGATGPE	AALVDVNVYL	IVAICAVSSL	LVLTLLLYTA
730	740	750	760	770	780
LRCSAPPTEG	DCGPGKPTLV	CSSAVGSWSY	SQQRQQRVCS	GEGLPKTDLM	AFSPSLPPCP
790	800	810	820	830	840
ISRDREEKQD	VDVDLSAKPR	QPNPDWRYSA	SLRAGMHSSV	HLEEAGILRA	GPGGPDQQWP
850	860	870	880	890	900
TVSSATPEPE	AGEVSPPVGA	GVNSNSWTFK	YGPGNPKQSG	PGELPDKFII	PGSPAIISIR
910	920	930	940
QEPTNSQIDK	SDFITFGKKE	ETKKKKKKKK	GNKTQEKKEK	GNSTTDNSDQ