AiPD: Autoinhibited Protein Database

Q9Y5I2

Gene name	PCDHA10 (CNRS8)
Protein name	Protocadherin alpha-10
Names	PCDH-alpha-10
Species	Homo sapiens (Human)
KEGG Pathway	hsa:56139
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

855-948 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

855-948 (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 Q9Y5I2

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9Y5I2-F1	Predicted				AlphaFoldDB

992 variants for Q9Y5I2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA174669 COSM205093 COSM462064 RCV000149260 rs193920994	389	T>M	lung cervix Malignant tumor of prostate Variant assessed as Somatic; 0.0 impact. large_intestine prostate [Cosmic, ClinVar, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD
RCV000508600 CA3454461 rs150254638	805	R>H	Hirschsprung disease, susceptibility to, 1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA3450841 rs782444703	2	V>F		No	ClinGen ExAC TOPMed gnomAD
rs782444703 CA3450840	2	V>I		No	ClinGen ExAC TOPMed gnomAD
CA361297834 rs1486914006	4	R>I		No	ClinGen TOPMed
rs782207999 CA3450842	5	C>S		No	ClinGen ExAC gnomAD
CA361297916 rs149846721	7	C>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs533914587 CA3450844	8	L>V		No	ClinGen ExAC gnomAD
rs369328632 CA3450845	9	G>R		No	ClinGen ESP ExAC TOPMed
TCGA novel	10	V>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781798552 CA128373249	12	C>R		No	ClinGen TOPMed
CA361298012 rs1554148156	13	L>P		No	ClinGen gnomAD
rs1383515995 CA361298049	15	L>F		No	ClinGen TOPMed
rs782183125 CA3450851	18	L>F		No	ClinGen ExAC gnomAD
CA361298140 rs1554148182	19	L>V		No	ClinGen gnomAD
CA361298156 rs1562504289	20	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1177053165 CA361298171	21	A>E		No	ClinGen TOPMed
COSM1130899 COSM1130900 rs781975666 CA3450854	21	A>T	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3450855 rs782115498	22	A>P		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	22	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361298175 rs782115498	22	A>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	23	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3450856 rs782797869	23	W>S		No	ClinGen ExAC gnomAD
COSM262757 rs782167466 CA3450858	24	E>D	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs782020835 CA3450857	24	E>G		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	24	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	25	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554148229 CA361298281	27	S>N		No	ClinGen gnomAD
CA3450862 rs149039484 CA3450861	27	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3450863 rs201064172	28	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs781872854 CA3450864	30	L>F		No	ClinGen ExAC gnomAD
CA3450865 rs782672623	31	H>R		No	ClinGen ExAC gnomAD
rs782449893 CA3450867	32	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361298348 rs1554148241	32	Y>D		No	ClinGen gnomAD
rs782602500 CA3450868	33	S>A		No	ClinGen ExAC gnomAD
rs782007386 CA3450871	34	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361298417 rs1554148270	35	Y>*		No	ClinGen gnomAD
CA361298402 rs1554148266	35	Y>C		No	ClinGen gnomAD
CA361298399 rs1554148266	35	Y>S		No	ClinGen gnomAD
rs533990024 CA3450873	36	E>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3450872 rs147800828	36	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3450874 rs781924604	38	A>S		No	ClinGen ExAC gnomAD
CA361298505 rs1554148289	39	R>K		No	ClinGen gnomAD
CA3450876 rs141221498	40	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1562505427 CA361298525	40	H>Y		No	ClinGen Ensembl
rs200441286 CA128373378	41	G>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361298538 rs200441286	41	G>R		No	ClinGen ExAC TOPMed gnomAD
rs200441286 CA3450878	41	G>S		No	ClinGen ExAC TOPMed gnomAD
CA3450879 rs782775861	42	T>I		No	ClinGen ExAC gnomAD
rs782775861 CA361298554	42	T>N		No	ClinGen ExAC gnomAD
rs200004763 CA128373398	43	F>L		No	ClinGen 1000Genomes
CA3450880 rs138092357	43	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782159422 CA3450881	43	F>S		No	ClinGen ExAC gnomAD
rs782689818 CA361298575	44	V>L		No	ClinGen ExAC gnomAD
rs782689818 CA3450882	44	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs781803033 CA3450883	45	G>C		No	ClinGen ExAC gnomAD
rs781803033 CA3450884	45	G>S		No	ClinGen ExAC gnomAD
CA3450885 rs782636519	46	R>C		No	ClinGen ExAC gnomAD
rs1554148335 CA361298612	46	R>H		No	ClinGen gnomAD
rs782636519 CA361298603	46	R>S		No	ClinGen ExAC gnomAD
rs781874204 CA3450886	47	I>V		No	ClinGen ExAC gnomAD
TCGA novel	48	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3409837 CA3450887 COSM3409838 rs773891459	48	A>V	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA128373425 rs941778432	49	Q>*		No	ClinGen Ensembl
rs1299614347 CA361298673	49	Q>R		No	ClinGen TOPMed
CA3450889 rs782182532	50	D>H		No	ClinGen ExAC gnomAD
CA361298709 rs1463727286	51	L>P		No	ClinGen TOPMed gnomAD
CA361298712 rs1463727286	51	L>R		No	ClinGen TOPMed gnomAD
CA3450891 rs150172685	52	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3450894 rs556174610	54	E>D		No	ClinGen 1000Genomes ExAC gnomAD
CA128373438 rs374070531	55	L>V		No	ClinGen Ensembl
CA3450895 rs781995878	56	A>E		No	ClinGen ExAC TOPMed gnomAD
rs781995878 CA361298773	56	A>V		No	ClinGen ExAC TOPMed gnomAD
rs782417138 CA3450897	59	V>M		No	ClinGen ExAC gnomAD
CA361298828 rs1254513889	60	Q>E		No	ClinGen TOPMed
CA3450898 rs149352769	60	Q>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1062268 COSM1062267 rs17844338 CA361298855	61	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs17844338 CA361298854	61	R>G		No	ClinGen gnomAD
CA128373443 rs17844339	61	R>L		No	ClinGen TOPMed gnomAD
CA361298859 rs17844339	61	R>P		No	ClinGen TOPMed gnomAD
CA128373442 rs17844338	61	R>S		No	ClinGen gnomAD
TCGA novel	64	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1250461159 CA361298898	64	R>W		No	ClinGen TOPMed
rs1202551683 CA361298921	65	V>A		No	ClinGen TOPMed gnomAD
rs782062442 CA3450899	66	A>V		No	ClinGen ExAC gnomAD
TCGA novel	68	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3450901 rs545226629	69	R>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361298970 rs545226629	69	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	69	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361298979 rs1554148458	69	R>T		No	ClinGen gnomAD
CA3450904 rs199529084	71	G>R		No	ClinGen ExAC TOPMed gnomAD
rs782445424 CA3450905	71	G>V		No	ClinGen ExAC gnomAD
rs199529084 CA3450903	71	G>W		No	ClinGen ExAC TOPMed gnomAD
CA361299038 rs1309055685	72	D>E		No	ClinGen TOPMed gnomAD
CA361299050 rs1581394564	73	L>P		No	ClinGen Ensembl
rs367902357 CA3450907	74	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782472888 CA3450908	75	E>*		No	ClinGen ExAC TOPMed gnomAD
CA361299068 rs782472888	75	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554148476 CA361299134	77	N>K		No	ClinGen gnomAD
rs1428005980 CA361299131	77	N>S		No	ClinGen TOPMed
rs782635462 CA3450909	78	L>P		No	ClinGen ExAC TOPMed gnomAD
rs1164216826 CA361299165	79	Q>P		No	ClinGen TOPMed
rs143002904 CA3450911	81	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3450910 rs138367057	81	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143002904 CA3450912	81	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782180138 CA3450913	82	I>V		No	ClinGen ExAC TOPMed gnomAD
rs782114957 CA3450916	86	N>H		No	ClinGen ExAC gnomAD
CA128373483 rs782323132	86	N>S		No	ClinGen Ensembl
TCGA novel	88	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3450917 rs782387382	88	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs200204071 CA3450921	90	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3450922 rs782092511	91	R>C		No	ClinGen ExAC gnomAD
CA3450924 rs781846770	92	E>V		No	ClinGen ExAC gnomAD
rs1353633021 CA361299404	93	E>K		No	ClinGen TOPMed
CA361299462 rs1262477114	96	G>R		No	ClinGen TOPMed gnomAD
COSM1541934 CA3450928 COSM1541935 rs781903292	97	R>L	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3450927 rs781903292	97	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs782782390 CA3450926	97	R>W		No	ClinGen ExAC gnomAD
rs1554148561 CA361299498	98	S>G		No	ClinGen gnomAD
rs782584293 CA3450929	98	S>I		No	ClinGen ExAC TOPMed gnomAD
rs782584293 CA361299500	98	S>N		No	ClinGen ExAC TOPMed gnomAD
CA361299510 rs1286159283	98	S>R		No	ClinGen TOPMed gnomAD
rs782335067 CA3450930	99	V>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs199611545 CA128373538	100	E>A		No	ClinGen TOPMed
rs199611545 CA361299540	100	E>V		No	ClinGen TOPMed
CA361299583 rs1404888364	102	S>I		No	ClinGen TOPMed
CA3450931 rs782497272	103	I>N		No	ClinGen ExAC gnomAD
rs782497272 CA361299605	103	I>T		No	ClinGen ExAC gnomAD
rs782661319 CA3450932	106	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782430101 CA361299696	108	I>M		No	ClinGen ExAC TOPMed gnomAD
CA128373543 rs568319142	109	V>E		No	ClinGen Ensembl
CA3450935 rs781914523	109	V>M		No	ClinGen ExAC gnomAD
CA361299736 rs1554148611	110	D>E		No	ClinGen gnomAD
rs1053203263 CA128373552	112	P>Q		No	ClinGen gnomAD
CA361299795 rs1554148624	114	Q>R		No	ClinGen gnomAD
CA361299811 rs1554148627	115	V>I		No	ClinGen gnomAD
rs782124565 CA3450939	116	F>L		No	ClinGen ExAC TOPMed gnomAD
CA361299851 rs1554148635	117	H>P		No	ClinGen gnomAD
rs782023286 CA3450941	117	H>Q		No	ClinGen ExAC gnomAD
rs782776522 CA3450940	117	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs782164641 CA3450942	118	V>A		No	ClinGen ExAC TOPMed gnomAD
CA128373558 rs782447462	119	D>N		No	ClinGen TOPMed gnomAD
rs782709201 COSM1062272 COSM1062271 CA3450943	120	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1263156096 CA361299917	121	E>Q		No	ClinGen TOPMed
rs199720508 CA128373567	122	V>A		No	ClinGen Ensembl
CA3450945 rs782470045	124	D>H		No	ClinGen ExAC TOPMed gnomAD
rs782470045 CA3450946	124	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554148675 CA361300006	125	I>F		No	ClinGen gnomAD
CA3450947 rs200722492	126	N>I		No	ClinGen ExAC TOPMed gnomAD
rs377709063 CA128373581	126	N>K		No	ClinGen ESP TOPMed
CA3450949 rs782670614	127	D>G		No	ClinGen ExAC TOPMed gnomAD
rs782109045 CA3450948	127	D>H		No	ClinGen ExAC TOPMed gnomAD
CA361300044 rs782109045	127	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3450950 rs782173275	128	N>S		No	ClinGen ExAC gnomAD
CA3450952 rs551569829	129	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs551569829 CA3450953	129	P>R		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	132	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554148741 CA361300163	134	V>A		No	ClinGen Ensembl
rs782383115 CA3450955	134	V>L		No	ClinGen ExAC
rs782213392 CA128373622	135	T>A		No	ClinGen Ensembl
rs1383276232 CA361300206	137	Q>*		No	ClinGen TOPMed
rs782279735 CA3450957	139	L>F		No	ClinGen ExAC gnomAD
rs782438318 CA3450958	141	I>M		No	ClinGen ExAC gnomAD
CA361300277 rs868928248	141	I>V		No	ClinGen TOPMed
CA361300303 rs1471191080	142	P>L		No	ClinGen TOPMed gnomAD
CA361300304 rs1554148759	143	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs954604818 CA128373649	145	R>G		No	ClinGen Ensembl
rs1430387773 CA361300341	145	R>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA361300357 rs1554148765	146	L>P		No	ClinGen gnomAD
rs1171656977 CA361300364	147	L>V		No	ClinGen TOPMed
rs781922775 CA3450959	148	D>H		No	ClinGen ExAC gnomAD
CA361300419 rs782069130	150	R>L		No	ClinGen ExAC TOPMed
CA3450960 rs782069130	150	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed
CA3450962 rs371158035	151	F>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs1193359159 CA361300499	154	E>D		No	ClinGen TOPMed gnomAD
rs1554148790 CA361300502	155	G>S		No	ClinGen gnomAD
CA3450966 rs781905206	155	G>V		No	ClinGen ExAC gnomAD
CA128373695 rs781942781	156	A>S		No	ClinGen Ensembl
rs374162485 CA3450968	157	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361300596 rs1246166621	159	A>E		No	ClinGen TOPMed gnomAD
CA361300588 rs1554148798	159	A>T		No	ClinGen gnomAD
CA361300601 rs1461628453	160	D>Y		No	ClinGen TOPMed
rs1277596666 CA361300644	162	G>R		No	ClinGen TOPMed gnomAD
CA3450969 rs182448614	162	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782543512 CA3450973 COSM3826985 CA3450974 COSM3826986	163	E>D	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3450972 rs781878255	163	E>G		No	ClinGen ExAC gnomAD
rs782625131 CA3450971	163	E>Q		No	ClinGen ExAC gnomAD
CA361300676 rs1554148838	164	N>K		No	ClinGen gnomAD
CA3450975 rs782181557	164	N>S		No	ClinGen ExAC gnomAD
rs1554148841 CA361300688	165	A>S		No	ClinGen gnomAD
CA361300680 rs1554148841	165	A>T		No	ClinGen gnomAD
rs1229307542 CA361300693	165	A>V		No	ClinGen TOPMed
rs1319185539 CA361300755	169	Y>H		No	ClinGen TOPMed gnomAD
CA3450976 rs372031038 CA3450977	170	K>N		No	ClinGen 1000Genomes ExAC gnomAD
CA361300790 rs782226001	171	L>F		No	ClinGen ExAC TOPMed gnomAD
rs782375648 CA3450979	171	L>R		No	ClinGen ExAC gnomAD
CA3450978 rs782226001	171	L>V		No	ClinGen ExAC TOPMed gnomAD
CA361300811 rs1554148859	172	S>N		No	ClinGen gnomAD
rs201902460 CA3450980	172	S>R		No	ClinGen ExAC TOPMed gnomAD
CA361300842 rs1554148862	174	N>Y		No	ClinGen gnomAD
rs782165615 CA3450981	175	E>A		No	ClinGen ExAC TOPMed gnomAD
CA361300862 rs1554148868	175	E>Q		No	ClinGen gnomAD
CA361300887 rs1448391443	176	Y>*		No	ClinGen TOPMed
CA361300914 rs1554148885	178	V>A		No	ClinGen gnomAD
CA3450982 rs537848812	178	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1185371115 CA361300940	180	D>N		No	ClinGen TOPMed
CA361300984 rs1554148896	181	I>M		No	ClinGen gnomAD
rs782731502 CA3450986	182	I>K		No	ClinGen ExAC gnomAD
rs782076669 CA3450985	182	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361301043 rs1554148909	184	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs200468399 CA3450988 COSM3381112 COSM3381113	186	D>H	pancreas [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed
TCGA novel	186	D>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361301124 rs782134319	188	D>N		No	ClinGen ExAC TOPMed gnomAD
rs782801357 CA3450990	188	D>V		No	ClinGen ExAC gnomAD
CA3450989 rs782134319	188	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA3450991 rs781909908	189	K>I		No	ClinGen ExAC gnomAD
rs1554148924 CA361301159	190	F>V		No	ClinGen gnomAD
rs981734320 CA128373729	193	L>I		No	ClinGen Ensembl
CA3450993 rs782588371	194	V>A		No	ClinGen ExAC TOPMed gnomAD
CA3450992 rs782445037	194	V>L		No	ClinGen ExAC gnomAD
rs1341590061 CA361301277	196	R>Q		No	ClinGen TOPMed
rs1554148950 CA361301321	198	L>R		No	ClinGen gnomAD
rs371868883 CA3450995	201	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361301399 rs1554148959	203	E>*		No	ClinGen gnomAD
rs782626089 CA3450996	206	Q>*		No	ClinGen ExAC gnomAD
CA3450999 rs782417357	209	L>F		No	ClinGen ExAC gnomAD
rs782337552 CA3451002	213	A>G		No	ClinGen ExAC gnomAD
rs782337552 CA3451003	213	A>V		No	ClinGen ExAC gnomAD
rs1554148983 CA361301633	214	T>A		No	ClinGen gnomAD
CA361301695 rs1554148991	217	G>D		No	ClinGen gnomAD
CA361301735 rs1413055800	219	P>S		No	ClinGen TOPMed
rs554030052 CA3451005	220	E>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361301814 rs1233191211	223	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1233191211 CA361301810	223	G>R		No	ClinGen TOPMed gnomAD
CA361301822 rs1482820775	223	G>V		No	ClinGen TOPMed gnomAD
rs1043107454 CA128373771	225	V>I		No	ClinGen Ensembl
rs782022822 CA3451009	227	L>Q		No	ClinGen ExAC gnomAD
CA3451007 rs782794939	227	L>R		No	ClinGen ExAC
TCGA novel	228	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs369958206 CA3451010	230	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA3451011 rs17844341	232	L>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA128373799 rs996216348	233	D>G		No	ClinGen Ensembl
rs146132566 CA3451012	234	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361301966 rs1554149050	235	N>D		No	ClinGen gnomAD
CA3451013 rs201595428	235	N>S		No	ClinGen ExAC gnomAD
rs536378352 CA3451015	236	D>N		No	ClinGen 1000Genomes ExAC gnomAD
CA361303104 rs1562513958	236	D>V		No	ClinGen Ensembl
CA3451017 rs148775418	237	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs377564040 CA3451019	238	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs377564040 CA3451020	238	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs781789539 CA3451018	238	A>P		No	ClinGen ExAC gnomAD
rs377564040 CA361303140	238	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1004781576 CA128373820	239	P>A		No	ClinGen TOPMed gnomAD
rs782226484 CA3451021	239	P>L		No	ClinGen ExAC gnomAD
rs782497691 CA3451022	241	F>L		No	ClinGen ExAC TOPMed gnomAD
CA361303210 rs782634261	243	R>I		No	ClinGen ExAC gnomAD
CA3451023 rs782634261	243	R>T		No	ClinGen ExAC gnomAD
CA361303222 rs1554149103	244	P>L		No	ClinGen gnomAD
CA3451024 rs782280474	244	P>S		No	ClinGen ExAC gnomAD
rs374159724 CA3451025	249	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs781924329 CA3451026	250	M>L		No	ClinGen ExAC TOPMed gnomAD
CA361303313 rs116416365	250	M>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451027 rs116416365	250	M>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782347816 CA3451029	252	E>A		No	ClinGen ExAC gnomAD
CA3451030 rs782347816	252	E>V		No	ClinGen ExAC gnomAD
rs1554149136 CA361303365	254	Q>E		No	ClinGen gnomAD
rs782118456 CA3451031	254	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA361303384 rs1158226302	255	V>A		No	ClinGen TOPMed
CA361303397 rs1471486955	256	N>S		No	ClinGen TOPMed
CA361303409 rs1249945409	257	Q>*		No	ClinGen TOPMed
CA361303429 rs1554149155	258	T>R		No	ClinGen gnomAD
rs782049467 CA3451035	259	L>F		No	ClinGen ExAC gnomAD
rs1554149171 CA361303433	259	L>S		No	ClinGen gnomAD
CA361303442 rs1201833720	260	V>A		No	ClinGen TOPMed
rs370105926 CA3451036	260	V>I		No	ClinGen ESP ExAC gnomAD
CA361303452 rs1554149191	261	I>T		No	ClinGen gnomAD
rs781823533 CA3451037	261	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1554149194 CA361303461	262	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361303484 rs1246162498	264	N>S		No	ClinGen TOPMed
rs781868199 CA3451041	265	A>P		No	ClinGen ExAC TOPMed gnomAD
rs781868199 CA3451040	265	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782696740 CA3451042	265	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361303515 rs1327483649	267	D>E		No	ClinGen TOPMed
TCGA novel	267	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128373888 rs140022509 COSM110040	268	S>L	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361303520 rs200165258	268	S>P		No	ClinGen Ensembl
rs1386939569 CA361303526	269	D>H		No	ClinGen TOPMed
TCGA novel	270	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1554149232 CA361303572	273	N>K		No	ClinGen gnomAD
rs1554149241 CA361303593	275	E>D		No	ClinGen gnomAD
rs1554149238 CA361303590	275	E>G		No	ClinGen gnomAD
rs1554149244 TCGA novel CA361303605	276	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen gnomAD
rs782182859 CA3451043	276	M>T		No	ClinGen ExAC gnomAD
rs969097575 COSM271448 CA128373900	278	Y>C	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA3451046 rs782469336	281	S>N		No	ClinGen ExAC TOPMed gnomAD
CA361303666 rs1432277991	281	S>R		No	ClinGen TOPMed gnomAD
rs267600397 CA128373906	282	S>F		No	ClinGen Ensembl
TCGA novel	286	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361303719 rs1319775845	287	T>R		No	ClinGen TOPMed gnomAD
rs782378927 CA3451049	288	I>V		No	ClinGen ExAC TOPMed gnomAD
CA361303733 rs1554149290	289	R>K		No	ClinGen gnomAD
rs782649806 CA3451050	290	R>T		No	ClinGen ExAC gnomAD
rs1554149295 CA361303755	291	K>I		No	ClinGen gnomAD
CA361303761 rs1178891192	292	F>Y		No	ClinGen TOPMed
CA3451051 rs782283116	293	W>*		No	ClinGen ExAC gnomAD
CA361303790 rs1554149303	295	N>K		No	ClinGen gnomAD
rs1554149306 CA361303797	296	E>G		No	ClinGen gnomAD
rs1554149308 CA361303810	297	R>S		No	ClinGen gnomAD
rs782304851 CA361303814	298	T>K		No	ClinGen ExAC gnomAD
COSM3826988 CA3451053 rs782304851 COSM272042	298	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA361303821 rs1424566635	299	G>A		No	ClinGen TOPMed gnomAD
rs1433920847 CA361303816	299	G>R		No	ClinGen TOPMed
rs1486886568 CA361303827	300	E>A		No	ClinGen TOPMed gnomAD
CA3451055 rs372611675	300	E>K		No	ClinGen ESP ExAC gnomAD
CA361303829 rs1486886568	300	E>V		No	ClinGen TOPMed gnomAD
TCGA novel	302	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451057 rs781976306	303	V>A		No	ClinGen ExAC gnomAD
rs782354826 CA3451056	303	V>I		No	ClinGen ExAC gnomAD
rs1554149344 CA361303871	305	D>H		No	ClinGen gnomAD
CA128373967 rs374996136	307	I>T		No	ClinGen Ensembl
rs782128989 CA3451058	307	I>V		No	ClinGen ExAC gnomAD
CA3451059 rs782790207	308	D>A		No	ClinGen ExAC TOPMed gnomAD
CA361303909 rs1554149355	309	F>L		No	ClinGen gnomAD
CA128373969 rs913394686	310	E>D		No	ClinGen Ensembl
rs576037609 CA3451060	312	S>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1463839145 CA361303954	313	N>D		No	ClinGen TOPMed
CA361303963 rs144244943	313	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554149390 CA361303972	314	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3451062 rs781903903	315	Y>*		No	ClinGen ExAC TOPMed gnomAD
rs201643490 CA3451064	315	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA361304007 rs1215860604	318	H>Q		No	ClinGen TOPMed gnomAD
CA361304012 rs1554149409	319	V>G		No	ClinGen gnomAD
rs74982530 CA3451065	319	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1365266931 CA361304013	320	D>N		No	ClinGen TOPMed gnomAD
rs782647115 CA3451066	321	V>A		No	ClinGen ExAC gnomAD
rs1319836535 CA361304030	322	T>A		No	ClinGen TOPMed
CA361304044 rs1554149440	324	K>E		No	ClinGen gnomAD
rs782539359 CA3451068	328	P>H		No	ClinGen ExAC gnomAD
CA361304075 rs782539359	328	P>L		No	ClinGen ExAC gnomAD
rs370499942 CA3451067	328	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1358871197 CA361304082	329	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs374158544 CA3451069	329	M>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1303154996 CA361304078	329	M>V		No	ClinGen TOPMed
rs1174179572 CA361304087	330	V>F		No	ClinGen TOPMed gnomAD
CA3451071 rs201811819	332	H>L		No	ClinGen ESP ExAC gnomAD
CA3451070 rs147770909	332	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
COSM3826993 rs1390810771 COSM3826992 CA361304115	334	T>M	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
TCGA novel	335	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361304147 rs1448127309	340	L>M		No	ClinGen TOPMed
rs1245365064 CA361304151	340	L>R		No	ClinGen TOPMed
CA3451074 rs782238591	342	E>G		No	ClinGen ExAC gnomAD
rs782381292 CA3451075	343	N>H		No	ClinGen ExAC gnomAD
rs782010117 CA3451076	343	N>T		No	ClinGen ExAC gnomAD
rs782160195 CA3451077	344	D>H		No	ClinGen ExAC TOPMed gnomAD
CA3451078 rs782316831	347	P>S		No	ClinGen ExAC TOPMed gnomAD
CA3451079 rs781941290	349	V>G		No	ClinGen ExAC gnomAD
rs1554149523 CA361304208	349	V>L		No	ClinGen gnomAD
rs782084085 CA3451080	350	I>T		No	ClinGen ExAC
CA3451081 rs782765383	351	V>G		No	ClinGen ExAC gnomAD
rs1562518295 CA361304236	354	L>V		No	ClinGen Ensembl
CA3451083 rs782131761	356	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3451084 rs141258804	357	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1296144895 CA361304253	357	P>S		No	ClinGen TOPMed
TCGA novel	358	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451085 rs781904873	359	K>N		No	ClinGen ExAC gnomAD
CA361304282 rs1554149562	361	D>V		No	ClinGen gnomAD
rs1554149565 CA361304287	362	A>S		No	ClinGen gnomAD
CA361304292 rs868969318	363	Q>*		No	ClinGen Ensembl
rs1554149566 CA361304303	364	V>A		No	ClinGen gnomAD
rs1554149566 CA361304302	364	V>E		No	ClinGen gnomAD
CA3451086 rs782455438	365	G>D		No	ClinGen ExAC gnomAD
rs145115378 CA361304317	367	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451087 COSM736169 rs145115378 COSM736170	367	V>I	lung endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA3451088 rs147581214	369	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA361304332 rs147581214	369	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361304337 rs1371246447	370	L>P		No	ClinGen TOPMed gnomAD
rs782653443 CA3451090	371	I>M		No	ClinGen ExAC gnomAD
CA3451091 CA361304350 rs782269515	372	S>R		No	ClinGen ExAC TOPMed gnomAD
rs1554149611 CA361304354	373	V>D		No	ClinGen gnomAD
rs1554149609 CA361304351	373	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3451092 rs199584063	374	S>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs149086377 CA3451093	376	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs149086377 CA3451094	376	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA361304373 rs149086377	376	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA3451095 rs782349051	377	D>G		No	ClinGen ExAC TOPMed gnomAD
CA361304380 rs782349051	377	D>V		No	ClinGen ExAC TOPMed gnomAD
CA3451097 rs781971977	379	G>R		No	ClinGen ExAC gnomAD
rs202051639 CA128374047	380	A>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
rs782390373 CA3451099	380	A>T		No	ClinGen ExAC TOPMed gnomAD
rs202051639 CA361304397	380	A>V		No	ClinGen 1000Genomes gnomAD
CA3451100 rs782018937	381	N>H		No	ClinGen ExAC gnomAD
CA361304402 rs1554149645	381	N>K		No	ClinGen gnomAD
CA3451101 rs782160902	381	N>T		No	ClinGen ExAC gnomAD
TCGA novel	382	G>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1219541 CA361304405 rs1581433906 COSM1219540	382	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA3451102 rs560343247	385	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451104 rs202111737	386	C>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554149670 CA361304439	387	S>C		No	ClinGen gnomAD
rs374547664 CA3451105	387	S>P		No	ClinGen ESP ExAC TOPMed
CA361304460 rs1554149674	391	H>P		No	ClinGen gnomAD
rs146953582 CA3451106	391	H>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs373834853 CA128374101	392	V>F		No	ClinGen TOPMed gnomAD
CA361304465 rs373834853	392	V>I		No	ClinGen TOPMed gnomAD
rs1554149683 CA361304470	393	P>A		No	ClinGen gnomAD
rs1266010631 CA361304474	393	P>L		No	ClinGen TOPMed gnomAD
rs1266010631 CA361304472	393	P>Q		No	ClinGen TOPMed gnomAD
rs781784109 CA361304494	396	L>M		No	ClinGen ExAC gnomAD
rs192745808 CA3451111	399	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs140390466 CA3451112	400	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554149715 CA361304529	401	K>N		No	ClinGen gnomAD
CA361304534 rs1554149722	402	N>S		No	ClinGen gnomAD
CA361304539 rs1307623486	403	Y>H		No	ClinGen TOPMed
CA128374111 rs969366268	405	S>*		No	ClinGen Ensembl
CA3451113 rs145652579	405	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554149751 CA361304569	407	V>A		No	ClinGen gnomAD
rs1457787239 CA361304565	407	V>M		No	ClinGen TOPMed
rs1473120345 CA361304583	409	D>E		No	ClinGen TOPMed
TCGA novel	409	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA128374134 rs541123870	410	S>R		No	ClinGen TOPMed gnomAD
rs1554149759 CA361304584	410	S>R		No	ClinGen TOPMed
TCGA novel	411	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM482107 CA3451118 COSM482108 rs782434219	411	A>S	kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA361304593 rs782434219	411	A>T		No	ClinGen ExAC TOPMed gnomAD
CA361304599 rs1554149780	412	L>V		No	ClinGen gnomAD
CA361304611 rs782208845	414	R>G		No	ClinGen ExAC TOPMed
CA3451122 rs782361309	414	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782361309 CA361304614	414	R>L		No	ClinGen ExAC gnomAD
CA3451120 COSM736167 COSM736168 rs782208845	414	R>S	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA3451125 rs782789358	416	R>M		No	ClinGen ExAC gnomAD
rs138197407 CA3451127	419	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782722148 CA3451128	420	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA361304656 rs781828328	421	E>A		No	ClinGen ExAC gnomAD
rs911975248 CA128374153	421	E>D		No	ClinGen Ensembl
rs781828328 CA3451129	421	E>G		No	ClinGen ExAC gnomAD
CA361304654 rs1287991839	421	E>Q		No	ClinGen TOPMed gnomAD
rs1562521184 CA361304668	423	V>A		No	ClinGen Ensembl
rs200630375 CA3451133	426	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1554149849 CA361304687	427	R>G	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA3451134 rs782673935	427	R>P		No	ClinGen ExAC gnomAD
CA361304698 rs782461373	428	D>E		No	ClinGen ExAC TOPMed gnomAD
CA361304695 rs1554149861	428	D>G		No	ClinGen gnomAD
TCGA novel	428	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs200210897 CA3451137 CA3451138	429	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs995138526 CA128374170	430	G>D		No	ClinGen Ensembl
rs782392001 CA3451139	431	S>*		No	ClinGen ExAC gnomAD
rs782392001 CA361304711	431	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782392001 CA361304712	431	S>W		No	ClinGen ExAC gnomAD
CA3451141 rs565903992	432	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782309251 CA3451142	433	P>L		No	ClinGen ExAC gnomAD
CA361304720 rs1554149884	433	P>S		No	ClinGen gnomAD
CA361304734 rs1197611806	435	W>*		No	ClinGen TOPMed
CA361304738 rs1449369579	436	A>S		No	ClinGen TOPMed gnomAD
CA361304737 rs1449369579	436	A>T		No	ClinGen TOPMed gnomAD
rs782141581 CA3451147	437	T>A		No	ClinGen ExAC gnomAD
CA361304755 rs1209229228	439	S>G		No	ClinGen TOPMed
CA361304759 rs1464300143	439	S>N		No	ClinGen TOPMed gnomAD
CA3451150 VAR_048535 CA3451149 rs251362	439	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt dbSNP
rs1347476888 CA361304784	443	E>D		No	ClinGen TOPMed
rs1554149916 CA361304778	443	E>K		No	ClinGen gnomAD
rs1232678115 CA361304792	445	A>T		No	ClinGen TOPMed
rs782509093 CA3451153	446	D>E		No	ClinGen ExAC gnomAD
rs1300471931 CA361304803	446	D>V		No	ClinGen TOPMed
rs369919324 CA3451154 CA3451155	447	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA361304805 rs369919324 COSM1062284 COSM1062283	447	V>M	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA3451157 rs142727326	448	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs146099067 CA3451158	449	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146099067 CA3451159	449	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782631166 CA3451160 COSM116346	450	N>K	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1554149957 CA361304824	450	N>Y		No	ClinGen gnomAD
rs375062704 CA361304830	451	A>P		No	ClinGen ESP TOPMed gnomAD
CA361304831 rs375062704	451	A>S		No	ClinGen ESP TOPMed gnomAD
CA361304829 rs375062704	451	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA3451163 rs782020024	452	P>H		No	ClinGen ExAC gnomAD
CA3451168 rs782751627	455	A>G		No	ClinGen ExAC gnomAD
CA361304857 rs782751627	455	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	458	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451169 rs781871079	460	T>K		No	ClinGen ExAC TOPMed gnomAD
CA361304892 rs781871079	460	T>M		No	ClinGen ExAC TOPMed gnomAD
CA361304893 rs781871079	460	T>R		No	ClinGen ExAC TOPMed gnomAD
rs953563882 CA128374261	462	F>I		No	ClinGen Ensembl
rs912006741 CA128374267	463	V>M		No	ClinGen gnomAD
rs1554150035 CA361304916	464	K>R		No	ClinGen gnomAD
CA361304924 rs1554150038	465	E>G		No	ClinGen gnomAD
CA361304920 rs1554150037	465	E>K		No	ClinGen gnomAD
CA3451171 rs144782261	466	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3451172 rs781784518	467	N>T		No	ClinGen ExAC
rs782451627 CA3451173	468	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs545328956 CA361304948	469	P>S		No	ClinGen 1000Genomes TOPMed gnomAD
rs545328956 CA128374288	469	P>T		No	ClinGen 1000Genomes TOPMed gnomAD
rs1581448736 CA361304956	470	G>A		No	ClinGen Ensembl
TCGA novel	470	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1562523612 CA361304963	471	C>F		No	ClinGen Ensembl
rs148598290 CA3451180	472	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA3451179 rs782545869	472	H>R		No	ClinGen ExAC gnomAD
CA3451178 rs782280236	472	H>Y		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	473	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451181 rs782202072	477	S>C		No	ClinGen ExAC gnomAD
rs1562523780 CA361305000	477	S>T		No	ClinGen Ensembl
CA361305006 rs1554150087	478	A>E		No	ClinGen gnomAD
CA361305007 rs1554150087	478	A>G		No	ClinGen gnomAD
rs1554150101 CA361305013	479	W>C		No	ClinGen gnomAD
CA361305012 rs1044921765	479	W>L		No	ClinGen TOPMed gnomAD
CA3451183 rs781790244	479	W>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA128374316 rs1044921765	479	W>S		No	ClinGen TOPMed gnomAD
CA361305022 CA3451184 rs782255025	480	D>E		No	ClinGen ExAC gnomAD
rs1554150104 CA361305016	480	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361305023 rs1168742927	481	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1554150112 CA361305026	481	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs189056024 CA3451186	482	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1388292827 CA361305029	482	D>N		No	ClinGen TOPMed gnomAD
TCGA novel	485	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361305054 rs1554150134	485	E>G		No	ClinGen Ensembl
rs1554150129 CA361305051	485	E>Q		No	ClinGen gnomAD
TCGA novel	486	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1187112079 CA361305062	486	N>S		No	ClinGen TOPMed
rs782043318 CA3451187	487	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361305074 rs1554150153	488	L>P		No	ClinGen gnomAD
rs781950263 CA3451189	489	V>L		No	ClinGen ExAC gnomAD
rs782094851 CA3451190	491	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA361305115 rs1554150171	494	V>A		No	ClinGen gnomAD
CA361305134 rs1413308998	496	R>Q		No	ClinGen TOPMed
rs781876036 CA3451192	496	R>W		No	ClinGen ExAC TOPMed gnomAD
CA3451195 rs192376340	497	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs192376340 CA3451194	497	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782605707 CA3451197	498	L>V		No	ClinGen ExAC TOPMed gnomAD
CA3451198 rs782244721	499	G>S		No	ClinGen ExAC gnomAD
rs1408742148 CA361305165	499	G>V		No	ClinGen TOPMed
rs782667639 CA3451200	500	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1554150192 CA361305167	500	E>K		No	ClinGen gnomAD
CA361305180 rs1554150197	501	R>G		No	ClinGen gnomAD
rs782300527 CA361305185	501	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs782300527 CA3451202	501	R>P		No	ClinGen ExAC TOPMed gnomAD
CA3451204 rs782203645	502	S>A		No	ClinGen ExAC TOPMed gnomAD
rs781993692 CA3451206	503	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3451207 rs782138602	504	S>T		No	ClinGen ExAC gnomAD
rs550275293 CA3451208	504	S>W		No	ClinGen 1000Genomes ExAC gnomAD
CA3451209 rs782037850	505	S>R		No	ClinGen ExAC gnomAD
rs1254291079 CA361305234	506	Y>H		No	ClinGen TOPMed gnomAD
rs139473255 CA3451210	507	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	507	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782707848 CA3451211	508	S>*		No	ClinGen ExAC TOPMed gnomAD
rs782707848 CA361305256 COSM1310662 COSM1310663	508	S>L	upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. urinary_tract [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs782707848 CA3451212	508	S>W		No	ClinGen ExAC TOPMed gnomAD
CA361305264 rs1452756689	509	V>G		No	ClinGen TOPMed gnomAD
CA3451214 rs142356019	509	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs782567056 CA3451217	511	A>E		No	ClinGen ExAC gnomAD
rs782552455 CA3451216	511	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
TCGA novel	512	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	513	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361305318 rs1554150286	514	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1554150286 CA361305320	514	G>V		No	ClinGen gnomAD
CA361305331 CA3451221 rs782606088	515	K>N		No	ClinGen ExAC gnomAD
CA3451219 rs782473553	515	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1554150300 CA361305335	516	V>L		No	ClinGen gnomAD
rs782398517 CA361305365	518	A>S		No	ClinGen ExAC TOPMed gnomAD
rs782398517 CA3451222	518	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361305378 rs1294714828	519	L>P		No	ClinGen TOPMed gnomAD
rs565842920 CA3451225	520	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
rs1436552212 CA361305401	521	P>R		No	ClinGen TOPMed gnomAD
rs1554150364 CA361305436	524	H>P		No	ClinGen gnomAD
rs782083775 CA3451227	524	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs1554150390 CA361305459	525	E>D		No	ClinGen gnomAD
CA128374434 rs962164938	525	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1554150395 CA361305486	528	E>K		No	ClinGen gnomAD
rs972522376 CA128374439	530	L>P		No	ClinGen Ensembl
rs1554150415 CA361305528	531	Q>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1193059751 CA361305545	532	F>L		No	ClinGen TOPMed gnomAD
CA3451232 rs781790360	532	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1406049950 CA361305541	532	F>S		No	ClinGen TOPMed
rs782060988 CA3451233	533	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs782724813 CA3451234	534	V>M		No	ClinGen ExAC TOPMed gnomAD
CA3451235 rs781834004	535	S>G		No	ClinGen ExAC gnomAD
rs1466552947 CA361305581	535	S>R		No	ClinGen TOPMed
CA3451236 rs782490979	536	A>G		No	ClinGen ExAC gnomAD
rs1554150444 CA361305585	536	A>T		No	ClinGen gnomAD
CA361305595 rs1207727837	537	R>C		No	ClinGen TOPMed
COSM3428995 CA128374457 rs17844344	537	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA3451237 rs17844344	537	R>L		No	ClinGen ExAC TOPMed gnomAD
rs782577621 CA3451241	538	D>E		No	ClinGen ExAC TOPMed gnomAD
CA361305605 rs368920437	538	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451239 rs368920437	538	D>Y		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA128374478 COSM336806 rs201104305	539	G>A	lung kidney Variant assessed as Somatic; 0.0 impact. urinary_tract central_nervous_system [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA3451242 rs377441915	539	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs375722457 CA3451244	540	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA3451243 rs375722457	540	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA361305633 rs1581464132	541	V>E		No	ClinGen Ensembl
CA128374490 rs926570494	541	V>M		No	ClinGen Ensembl
rs372854727 CA3451246	542	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs372854727 CA3451245	542	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1178476676 CA361305655	543	P>L		No	ClinGen TOPMed
CA361305650 rs1343696069	543	P>S		No	ClinGen TOPMed gnomAD
rs1554150504 CA361305657	544	L>V		No	ClinGen gnomAD
rs1554150517 CA361305673	545	G>V		No	ClinGen gnomAD
rs189067845 CA361305706	548	L>*		No	ClinGen 1000Genomes TOPMed
rs189067845 CA361305703	548	L>S		No	ClinGen 1000Genomes TOPMed
CA3451250 rs184684054	548	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361305704 rs189067845	548	L>W		No	ClinGen 1000Genomes TOPMed
rs1554150531 CA361305716	549	T>K		No	ClinGen gnomAD
rs1554150531 CA361305719	549	T>R		No	ClinGen gnomAD
CA361305730 rs1554150537	551	Q>*		No	ClinGen gnomAD
CA3451251 rs782327503	552	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1554150547 CA361305765	554	V>L		No	ClinGen gnomAD
CA3451252 rs781941638	555	L>P		No	ClinGen ExAC gnomAD
CA361305800 rs139533789	556	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781995177 CA3451255	557	E>D		No	ClinGen ExAC gnomAD
rs782771327 CA361305803	557	E>K		No	ClinGen ExAC TOPMed gnomAD
rs782771327 CA3451254	557	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3451257 CA3451258 rs371525843	558	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1277501257 CA361305830	559	D>G		No	ClinGen TOPMed gnomAD
CA3451260 rs782731784	559	D>H		No	ClinGen ExAC gnomAD
TCGA novel	559	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781841380 CA3451261	560	N>K		No	ClinGen ExAC TOPMed gnomAD
rs782671299 CA3451263	561	A>D		No	ClinGen ExAC gnomAD
CA3451262 rs782508750	561	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1554150585 CA361305872	563	A>E		No	ClinGen gnomAD
rs782288464 CA3451264	563	A>S		No	ClinGen ExAC gnomAD
rs782288464 CA361305866	563	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361305882 rs1380363248	564	L>R		No	ClinGen TOPMed
rs375305711 CA3451266	565	L>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs375305711 CA361305886	565	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782206343 CA3451267	566	A>E		No	ClinGen ExAC gnomAD
CA361305892 rs1374937613	566	A>S		No	ClinGen TOPMed gnomAD
CA3451268 rs782353510	567	S>Y		No	ClinGen ExAC gnomAD
CA3451270 rs781977975	568	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3451269 rs781977975	568	P>S		No	ClinGen ExAC TOPMed gnomAD
rs782054220 CA3451273	569	A>P		No	ClinGen ExAC TOPMed gnomAD
CA3451275 rs782736508	570	G>A		No	ClinGen ExAC TOPMed gnomAD
rs782736508 CA3451274	570	G>D		No	ClinGen ExAC TOPMed gnomAD
rs782102895 CA3451276 COSM3409842	572	A>V	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
TCGA novel	573	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs374400381 COSM1541925 CA3451279	573	G>S	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA128374556 rs926604630	574	G>C		No	ClinGen gnomAD
CA361305970 rs926604630	574	G>R		No	ClinGen gnomAD
rs1554150651 CA361305984	575	A>G		No	ClinGen gnomAD
CA361305988 rs1554150651	575	A>V		No	ClinGen gnomAD
rs554890390 CA3451281	576	V>I		No	ClinGen 1000Genomes ExAC gnomAD
CA3451283 rs782611887	579	L>Q		No	ClinGen ExAC gnomAD
CA3451287 rs782663646	582	R>L		No	ClinGen ExAC gnomAD
CA3451286 rs782663646	582	R>Q		No	ClinGen ExAC gnomAD
rs368399538 CA3451285	582	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA361306787 rs1554150678	583	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361306799 rs1554150681	584	V>E		No	ClinGen gnomAD
TCGA novel	584	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451289 VAR_048536 rs251364	585	V>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1311256758 CA361306829	586	A>E		No	ClinGen TOPMed gnomAD
rs1311256758 CA361306832 COSM482109	586	A>V	kidney prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs1411794040 CA361306853	588	H>Y		No	ClinGen TOPMed
rs17844346 CA3451290	589	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs781991402 CA3451292	590	V>L		No	ClinGen ExAC gnomAD
rs782420102 CA3451294	593	V>E		No	ClinGen ExAC gnomAD
CA3451295 rs781917564	594	R>G		No	ClinGen ExAC gnomAD
rs1554150713 COSM1433995 CA361306939	595	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA128374583 rs903622049	595	A>V		No	ClinGen Ensembl
rs781828595 CA3451298	598	A>T		No	ClinGen ExAC gnomAD
CA3451301 rs782775653	600	S>C		No	ClinGen ExAC gnomAD
CA3451300 rs782107328	600	S>P		No	ClinGen ExAC gnomAD
CA3451303 COSM1719878 rs782556733	601	G>R	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA3451304 rs782574851	602	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA361307046 rs1554150749	602	Y>H		No	ClinGen gnomAD
CA361307072 rs1415276512	603	N>K		No	ClinGen TOPMed gnomAD
CA3451305 rs781810921	604	A>S		No	ClinGen ExAC gnomAD
rs1554150765 CA361307089	604	A>V		No	ClinGen gnomAD
CA128374613 rs890760526	605	W>R		No	ClinGen Ensembl
TCGA novel	606	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs782242383 CA3451308	607	S>L		No	ClinGen ExAC gnomAD
CA3451310 COSM1719880 rs782670114	609	E>K	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs782327077 CA3451312	612	S>*		No	ClinGen ExAC gnomAD
CA3451313 rs782327077	612	S>L		No	ClinGen ExAC gnomAD
CA3451315 rs782362061	615	V>F		No	ClinGen ExAC gnomAD
CA3451317 rs373881159	616	G>D		No	ClinGen ESP ExAC gnomAD
CA361307286 rs1554150821	618	R>C		No	ClinGen gnomAD
rs782807567 CA3451318	618	R>H		No	ClinGen ExAC gnomAD
rs1554150826 CA361307296	619	I>L		No	ClinGen gnomAD
CA3451319 rs781796196	619	I>N		No	ClinGen ExAC gnomAD
CA361307318 rs1250345336	620	P>L		No	ClinGen TOPMed
rs1554150840 CA361307330	621	F>L		No	ClinGen gnomAD
CA361307358 rs1489456152	622	R>C		No	ClinGen TOPMed gnomAD
rs559667430 CA128374639	622	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA gnomAD
CA361307364 rs1265955881 COSM1433996	623	V>M	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA361307393 rs1243844248	624	G>W		No	ClinGen TOPMed
rs1554150855 CA361307400	625	L>M		No	ClinGen gnomAD
CA3451323 rs782519535	625	L>P		No	ClinGen ExAC gnomAD
rs782519535 CA361307402	625	L>R		No	ClinGen ExAC gnomAD
CA361307419 rs1351185942	626	Y>*		No	ClinGen TOPMed gnomAD
rs1291686886 CA361307413	626	Y>C		No	ClinGen TOPMed gnomAD
rs1291686886 CA361307416	626	Y>F		No	ClinGen TOPMed gnomAD
CA361307406 rs1332380211	626	Y>H		No	ClinGen TOPMed
CA128374643 rs529968685	627	T>K		No	ClinGen 1000Genomes gnomAD
CA361307437 COSM3776287 rs529968685	627	T>M	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes gnomAD
CA361307426 rs1554150876	627	T>P		No	ClinGen gnomAD
rs1581479966 CA361307442	628	G>C		No	ClinGen Ensembl
rs1554150890 CA361307451	629	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA361307472 rs1554150893	630	I>V		No	ClinGen gnomAD
CA128374646 rs898070295	631	S>I		No	ClinGen Ensembl
rs782648009 CA3451324	632	T>M		No	ClinGen ExAC gnomAD
CA361307511 rs1392688299	633	T>A		No	ClinGen TOPMed
CA361307514 rs1554150906	633	T>K		No	ClinGen gnomAD
CA361307522 rs1160932490	634	R>C		No	ClinGen TOPMed gnomAD
COSM1062297 rs1554150927 CA361307530	634	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
CA361307524 rs1160932490	634	R>S		No	ClinGen TOPMed gnomAD
rs569786768 CA361307539	635	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs569786768 CA3451327	635	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1179131182 CA361307585	638	E>*		No	ClinGen TOPMed gnomAD
rs630162 CA3451328 VAR_048537	639	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA361307611 rs630162	639	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1212933789 CA361307631	640	D>H		No	ClinGen TOPMed
CA3451331 rs782641512	641	S>*		No	ClinGen ExAC TOPMed gnomAD
rs782641512 CA3451330	641	S>L		No	ClinGen ExAC TOPMed gnomAD
rs114376757 CA3451332	642	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3451334 rs782181380	643	R>C		No	ClinGen ExAC TOPMed gnomAD
CA361307692 rs782181380	643	R>S		No	ClinGen ExAC TOPMed gnomAD
rs377577023 CA361307741	645	R>C		No	ClinGen ESP TOPMed
rs377577023 CA128374663	645	R>G		No	ClinGen ESP TOPMed
rs782329809 CA3451336	645	R>H		No	ClinGen ExAC TOPMed gnomAD
rs782329809 CA3451335	645	R>P		No	ClinGen ExAC TOPMed gnomAD
CA361307762 rs1554150982	646	L>P		No	ClinGen gnomAD
CA361307766 rs1562532129	647	L>M		No	ClinGen Ensembl
CA3451338 rs370495338	647	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA361307772 rs370495338	647	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1554150990 CA361307789	648	V>E		No	ClinGen gnomAD
rs570220982 CA3451339	648	V>L		No	ClinGen 1000Genomes ExAC gnomAD
rs782150278 CA3451340	649	L>V		No	ClinGen ExAC gnomAD
rs782820218 CA361307834	652	D>H		No	ClinGen ExAC gnomAD
CA3451341 rs782820218	652	D>N		No	ClinGen ExAC gnomAD
CA361307870 rs1383838363	653	H>Q		No	ClinGen TOPMed gnomAD
CA3451342 rs373238139	654	G>S		No	ClinGen ESP ExAC gnomAD
CA3451343 rs782468153	655	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1554151014 CA361307892	655	E>V		No	ClinGen gnomAD
CA3451345 rs781847343	656	P>L		No	ClinGen ExAC gnomAD
rs782738271 CA3451344	656	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1562532510 CA361307920	657	S>W		No	ClinGen Ensembl
rs782656168 CA3451347	659	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3451348 rs534379807	661	T>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361307995 rs1249815194	662	A>V		No	ClinGen TOPMed
CA3451351 rs782597618	664	V>A		No	ClinGen ExAC gnomAD
CA361308024 rs1446194845	665	L>F		No	ClinGen TOPMed gnomAD
CA361308031 rs1446194845	665	L>I		No	ClinGen TOPMed gnomAD
CA361308037 rs1283856648	666	V>M		No	ClinGen TOPMed
CA361308060 rs1203574330	667	S>*		No	ClinGen TOPMed gnomAD
rs1203574330 CA361308062	667	S>W		No	ClinGen TOPMed gnomAD
rs1233644213 CA361308081	669	V>L		No	ClinGen TOPMed gnomAD
rs781982906 CA3451354	670	E>G		No	ClinGen ExAC gnomAD
CA3451356 rs17844348	671	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451355 rs200045353	671	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451357 rs200661444	673	Q>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA128374712 rs576753961	674	A>T		No	ClinGen 1000Genomes
CA3451358 rs782061637	675	P>S		No	ClinGen ExAC gnomAD
rs782716439 CA3451360	676	K>*		No	ClinGen ExAC TOPMed gnomAD
CA3451359 rs782716439	676	K>Q		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	677	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451361 rs782110139	677	A>V		No	ClinGen ExAC gnomAD
CA361308217 rs782778779	678	S>L		No	ClinGen ExAC TOPMed gnomAD
rs782778779 CA3451362	678	S>W		No	ClinGen ExAC TOPMed gnomAD
rs781886260 CA3451363	679	S>L		No	ClinGen ExAC gnomAD
CA361308238 rs782702941	680	R>P		No	ClinGen ExAC TOPMed gnomAD
rs782702941 CA3451365	680	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1554151138 CA361308235	680	R>W		No	ClinGen gnomAD
CA3451367 rs782483771	685	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs782612207 CA3451368	686	A>V		No	ClinGen ExAC
CA361308321 rs781859966	687	P>H		No	ClinGen ExAC TOPMed gnomAD
CA3451369 rs781859966	687	P>L		No	ClinGen ExAC TOPMed gnomAD
CA3451371 rs782673373	688	E>*		No	ClinGen ExAC gnomAD
CA361308328 rs782673373 COSM1062299	688	E>K	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1581491002 CA361308354	689	V>G		No	ClinGen Ensembl
rs1191323415 CA361308367	690	A>D		No	ClinGen TOPMed
CA3451372 COSM1062300 rs140097524	690	A>T	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA3451373 rs782310474	691	L>P		No	ClinGen ExAC gnomAD
rs1444406371 CA361308377	691	L>V		No	ClinGen TOPMed gnomAD
rs1554151191 CA361308393	692	V>E		No	ClinGen gnomAD
rs1258479453 CA361308419	694	V>D		No	ClinGen TOPMed
CA3451376 rs782090771	694	V>I		No	ClinGen ExAC gnomAD
rs1554151203 CA361308441	695	N>K		No	ClinGen gnomAD
rs781998170 CA3451377	695	N>S		No	ClinGen ExAC TOPMed
rs1215623176 CA361308452	696	V>E		No	ClinGen TOPMed gnomAD
rs1215623176 CA361308456	696	V>G		No	ClinGen TOPMed gnomAD
rs1277423393 CA361308450	696	V>L		No	ClinGen TOPMed gnomAD
CA361308445 rs1277423393	696	V>M		No	ClinGen TOPMed gnomAD
rs577433161 CA3451378	697	Y>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361308481 rs1247420166	698	L>P		No	ClinGen TOPMed
CA128374757 rs782394316	698	L>V		No	ClinGen Ensembl
CA3451380 rs781919234	699	I>F		No	ClinGen ExAC gnomAD
CA128374762 rs993741287	699	I>T		No	ClinGen Ensembl
rs782725386 CA3451382	701	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3451383 rs781842183	702	I>M		No	ClinGen ExAC gnomAD
rs782113419 CA3451384	703	C>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	703	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451387 rs781899082	704	A>S		No	ClinGen ExAC TOPMed gnomAD
rs781899082 CA3451386	704	A>T		No	ClinGen ExAC TOPMed gnomAD
CA3451388 rs782574934	704	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1409243603 CA361308571	705	V>M		No	ClinGen TOPMed
rs782491809 CA3451390	709	L>V		No	ClinGen ExAC gnomAD
CA361308675 rs1417282608	712	T>M		No	ClinGen TOPMed gnomAD
rs782680459 CA3451394	717	T>A		No	ClinGen ExAC TOPMed gnomAD
CA361308745 rs1418909754	717	T>I		No	ClinGen TOPMed gnomAD
CA361308788 rs781984728	720	R>G		No	ClinGen gnomAD
rs781984728 CA128374796	720	R>W		No	ClinGen gnomAD
CA361308801 rs1554151274	721	C>S		No	ClinGen gnomAD
rs1205846373 CA361308831	722	S>L		No	ClinGen TOPMed
rs1554151287 CA361308836	723	A>T		No	ClinGen gnomAD
CA361308865 COSM448813 rs1554151292	724	A>V	breast [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	727	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451400 rs782000026	727	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA361308895 rs782000026	727	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA3451401 rs782153266	729	A>E		No	ClinGen ExAC TOPMed gnomAD
CA128374804 rs1014024880	729	A>S		No	ClinGen TOPMed gnomAD
CA361308941 rs782153266	729	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554151322 CA361308974	732	P>A		No	ClinGen gnomAD
rs781796341 CA3451403	732	P>L		No	ClinGen ExAC gnomAD
CA3451404 rs781796341	732	P>R		No	ClinGen ExAC gnomAD
CA3451406 rs782165070	734	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1554151333 CA361309031	735	P>H		No	ClinGen gnomAD
CA361309039 rs1325415176	736	T>A		No	ClinGen TOPMed
CA3451407 rs782505724	736	T>M		No	ClinGen ExAC gnomAD
rs782801879 CA361309080	738	V>L		No	ClinGen ExAC gnomAD
CA3451408 rs782801879	738	V>M		No	ClinGen ExAC gnomAD
rs781901851 CA3451409	739	C>R		No	ClinGen ExAC TOPMed gnomAD
rs367651349 CA3451412	741	S>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554151358 CA361309115	741	S>N		No	ClinGen gnomAD
rs374506056 CA3451414	742	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1231696084 CA361309151	743	V>A		No	ClinGen TOPMed
CA3451417 rs782040852	745	S>I		No	ClinGen ExAC TOPMed gnomAD
CA361309274 rs782040852	745	S>N		No	ClinGen ExAC TOPMed gnomAD
CA3451418 rs782182754	746	W>*		No	ClinGen ExAC gnomAD
CA3451419 rs369786229	746	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs781955598 CA3451420	748	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA3451421 rs782112368	748	Y>S		No	ClinGen ExAC
rs1212201302 CA361309374	749	S>A		No	ClinGen TOPMed
CA3451422 rs551967990	749	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782690239 CA3451425	753	R>G		No	ClinGen ExAC
COSM1062301 rs1554151408 CA361309470	753	R>Q	lung large_intestine endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1276572732 CA361309494	754	Q>R		No	ClinGen TOPMed gnomAD
CA3451426 rs781800844	755	R>S		No	ClinGen ExAC
rs1581503195 CA361309528	756	V>G		No	ClinGen Ensembl
CA361309541 rs1554151418	757	C>R		No	ClinGen gnomAD
rs1441459097 CA361309555	757	C>Y		No	ClinGen TOPMed
CA361309720 rs1323713253	764	K>E		No	ClinGen TOPMed
rs528199752 CA128374859	765	A>V		No	ClinGen 1000Genomes gnomAD
CA3451434 rs782668038	766	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3451433 rs371621182	766	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1160044351 CA361309801	768	M>L		No	ClinGen TOPMed
CA3451437 rs782580844	769	A>D		No	ClinGen ExAC TOPMed gnomAD
rs782457995 CA3451436	769	A>T		No	ClinGen ExAC gnomAD
CA3451438 rs782216764	770	F>V		No	ClinGen ExAC gnomAD
rs943751481 CA128374875	771	S>G		No	ClinGen TOPMed gnomAD
CA3451439 rs782369682	771	S>N		No	ClinGen ExAC TOPMed gnomAD
CA361309870 rs782369682	771	S>T		No	ClinGen ExAC TOPMed gnomAD
CA361309903 rs1455132420	773	S>G		No	ClinGen TOPMed
CA361309976 rs1252920038	776	P>L		No	ClinGen TOPMed
TCGA novel	778	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3451442 rs782413045	779	M>T		No	ClinGen ExAC TOPMed gnomAD
CA3451441 rs181849631	779	M>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361310052 rs1260966424	780	V>A		No	ClinGen TOPMed
TCGA novel	780	V>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA361310069 rs1214576702	781	D>E		No	ClinGen TOPMed gnomAD
CA361310139 CA361310143 rs185971380	784	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs185971380 CA3451444	784	G>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA361310172 rs1554151554	785	E>D		No	ClinGen gnomAD
CA3451445 rs782740609	787	Q>H		No	ClinGen ExAC
rs150984635 CA3451448	789	I>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs150984635 CA3451447	789	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1301119075 CA361310249	790	G>*		No	ClinGen TOPMed
CA361310244 rs1301119075	790	G>R		No	ClinGen TOPMed
rs550257645 CA3451450	792	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3451451 rs373682195	793	H>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361310296 rs373682195	793	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA361310320 rs1554151596	794	S>C		No	ClinGen gnomAD
rs782697989 CA3451452	796	K>E		No	ClinGen ExAC gnomAD
rs781811192 CA361310365	796	K>N		No	ClinGen ExAC gnomAD
rs782073950 CA3454452	797	P>R		No	ClinGen ExAC gnomAD
CA361259520 rs1490306705	797	P>S		No	ClinGen TOPMed
rs374951627 CA3454453	798	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs781913955 CA3454454	798	R>L		No	ClinGen ExAC gnomAD
CA3454455 rs781913955	798	R>Q		No	ClinGen ExAC gnomAD
rs782109224 CA3454458	803	D>H		No	ClinGen ExAC
COSM3696815 COSM3696819 COSM3696826 COSM3696817 CA3454459 COSM3696814 COSM3696822 COSM3696816 COSM3696828 COSM3696812 COSM3696820 rs782774245 COSM3696813 COSM3696823 COSM3696825 COSM3696821 COSM3696827 COSM3696818 COSM3696824	804	W>L	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA361259640 rs782774245	804	W>S		No	ClinGen ExAC gnomAD
CA3454460 rs141879545	805	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454463 rs781815387	808	A>D		No	ClinGen ExAC TOPMed gnomAD
rs138901709 CA3454464	809	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs782686641 CA3454465	810	L>P		No	ClinGen ExAC gnomAD
rs1363421000 CA361259736	811	R>I		No	ClinGen TOPMed
rs1586790986 CA361259751	812	A>G		No	ClinGen Ensembl
CA3454466 rs782253140	813	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3454467 rs782336746	814	M>V		No	ClinGen ExAC
CA361259787 rs1554240128	815	H>N		No	ClinGen gnomAD
rs149397164 CA3454468	816	S>G		No	ClinGen ESP ExAC gnomAD
rs782426631 CA3454484	817	S>A		No	ClinGen ExAC TOPMed gnomAD
rs782587733 CA3454485	817	S>C		No	ClinGen ExAC gnomAD
rs782426631 CA361260538	817	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1181664726 CA361260559	818	V>A		No	ClinGen TOPMed gnomAD
CA361260577 rs1554244276	819	H>P		No	ClinGen gnomAD
COSM1062442 COSM1062448 COSM1062450 rs782273708 COSM1062445 COSM1062454 COSM1062455 COSM1062443 COSM1062452 COSM1062456 COSM1062457 COSM1062451 COSM1062453 COSM1062449 COSM1062447 CA3454486 COSM1062444	819	H>Y	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA3454488 rs782634646	821	E>G		No	ClinGen ExAC gnomAD
CA3454487 rs782419098	821	E>Q		No	ClinGen ExAC gnomAD
rs147537783 CA3454489	822	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs981642614 CA128362369	823	A>T		No	ClinGen Ensembl
rs782347331 CA3454490	824	G>D		No	ClinGen ExAC TOPMed gnomAD
CA361260711 rs1468199443	825	I>V		No	ClinGen TOPMed
rs555523473 CA3454493	827	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs139355257 CA3454492	827	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs782025005 CA3454494	829	G>A		No	ClinGen ExAC TOPMed gnomAD
CA361260802 rs1278779763	830	P>T		No	ClinGen TOPMed gnomAD
CA3454495 rs201991205	832	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454497 rs201572428	834	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA3454496 rs782766562	834	D>V		No	ClinGen ExAC
rs1554244431 CA361260933	836	Q>R		No	ClinGen gnomAD
CA3454498 rs782094765	837	W>C		No	ClinGen ExAC gnomAD
CA3454499 RCV000950135 rs79247475	838	P>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA128362405 rs369053351	838	P>T		No	ClinGen ESP TOPMed gnomAD
rs1554244455 CA361260996	839	T>A		No	ClinGen gnomAD
CA3454501 rs782544627	840	V>L		No	ClinGen ExAC TOPMed gnomAD
CA3454502 rs577838197	842	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA3454504 rs781852534	842	S>I		No	ClinGen ExAC gnomAD
rs781852534 CA3454503	842	S>N		No	ClinGen ExAC gnomAD
rs782605920 CA3454505	842	S>R		No	ClinGen ExAC gnomAD
rs199851685 CA3454506	844	T>A		No	ClinGen 1000Genomes ExAC gnomAD
CA3454507 rs782437404	845	P>A		No	ClinGen ExAC gnomAD
rs560422677 CA3454508	845	P>L		No	ClinGen 1000Genomes ExAC gnomAD
rs560422677 CA3454509	845	P>R		No	ClinGen 1000Genomes ExAC gnomAD
CA361261129 rs782437404	845	P>S		No	ClinGen ExAC gnomAD
rs782179145 CA3454531	846	E>G		No	ClinGen ExAC gnomAD
CA3454532 rs782321757	849	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1554262240 CA361268348	851	E>G		No	ClinGen gnomAD
rs781996586 CA3454536	857	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	858	A>V	lung prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1588246273 CA361268557	860	V>G		No	ClinGen Ensembl
CA3454540 rs782068657	860	V>I		No	ClinGen ExAC gnomAD
rs1563727066 CA361268679	864	S>N		No	ClinGen Ensembl
COSM139598 COSM139601 COSM139604 COSM139606 COSM139609 COSM139603 COSM139600 COSM139611 COSM139608 rs1554262287 COSM139599 COSM139607 COSM139602 COSM139605 COSM139610 CA361268865	870	G>E	skin [Cosmic]	No	ClinGen cosmic curated gnomAD
rs900919931 CA128372514	870	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1554262289 CA361268920	872	G>D		No	ClinGen gnomAD
CA3454542 rs575518914	874	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1175529844 CA361268995	875	K>R		No	ClinGen TOPMed gnomAD
CA3454543 rs782119637	877	S>C		No	ClinGen ExAC gnomAD
CA3454546 rs552954748	878	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552954748 CA3454545	878	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs373683237 CA3454547	879	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486746921 CA361269173	880	G>S		No	ClinGen TOPMed
CA128372547 rs1057913	884	D>A		No	ClinGen Ensembl
rs371269236 CA3454551	884	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3454552 rs782334415	885	K>I		No	ClinGen ExAC TOPMed gnomAD
CA3454553 rs782623559	888	I>V		No	ClinGen ExAC gnomAD
CA3454555 rs782328874	889	P>A		No	ClinGen ExAC TOPMed gnomAD
CA3454556 rs200822345	890	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3454559 rs782009776	894	I>M		No	ClinGen ExAC TOPMed gnomAD
rs142720081 CA361269729	894	I>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA3454558 rs142720081	894	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs782087059 CA3454560	895	I>F		No	ClinGen ExAC gnomAD
rs1289763016 CA361269834	897	I>V		No	ClinGen TOPMed
rs760426957 CA3454562	898	R>Q		No	ClinGen ExAC gnomAD
COSM1166265 COSM1166271 COSM1166266 COSM1166268 COSM1166267 COSM1166273 COSM1166276 COSM1166277 COSM1166272 COSM1166264 COSM1166279 rs147351924 CA3454561 COSM1166275 COSM1166269 COSM1166278 COSM1166270 COSM1166274	898	R>W	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA361269875 rs1554262408	899	Q>K		No	ClinGen gnomAD
CA361269953 rs1554262420	901	P>A		No	ClinGen gnomAD
CA361269962 rs1359138927	901	P>R		No	ClinGen TOPMed gnomAD
rs1314860754 CA361269972	902	T>A		No	ClinGen TOPMed
CA361270002 rs1554262437	903	N>K		No	ClinGen TOPMed
CA3454564 rs148436868	904	S>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1554262456 CA361270119	906	I>T		No	ClinGen gnomAD
rs781853535 CA3454565	906	I>V		No	ClinGen ExAC TOPMed gnomAD
rs529364872 CA128372646	907	D>E		No	ClinGen Ensembl
CA3454567 rs142570778	907	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA128372638 rs782057926	907	D>Y		No	ClinGen TOPMed gnomAD
CA3454568 rs781835321	908	K>N		No	ClinGen ExAC gnomAD
rs782451974 CA3454569	911	F>Y		No	ClinGen ExAC gnomAD
CA3454570 rs782578873	913	T>I		No	ClinGen ExAC
rs782274123 CA3454571	914	F>S		No	ClinGen ExAC gnomAD
COSM216699 COSM216705 CA3454573 COSM216710 rs782642898 COSM1158471 COSM216696 COSM216700 COSM216702 COSM216709 COSM216704 COSM216698 COSM216697 COSM216706 COSM216707 COSM216701 COSM216703 COSM216708	915	G>S	Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3454574 rs782270689	917	K>M		No	ClinGen ExAC gnomAD
rs782270689 CA361270554	917	K>R		No	ClinGen ExAC gnomAD
rs1259591783 CA361270565	918	E>Q		No	ClinGen TOPMed
CA361270593 rs1554262487	919	E>D		No	ClinGen gnomAD
CA3454575 rs782348993	920	T>I		No	ClinGen ExAC gnomAD
rs781972089 CA3454577	921	K>E		No	ClinGen ExAC gnomAD
rs1554262492 CA361270633	921	K>R		No	ClinGen gnomAD
rs374660085 CA3454578	926	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA361270828 rs1554262513	927	K>R		No	ClinGen gnomAD
CA3454579 rs782413551	928	K>R		No	ClinGen ExAC TOPMed gnomAD
rs782413551 CA361270853	928	K>T		No	ClinGen ExAC TOPMed gnomAD
rs1307653192 CA361270984	931	K>N		No	ClinGen TOPMed
CA128372721 rs184181976	931	K>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
rs1554262529 CA361271070	934	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs782776948 CA3454583	936	K>N		No	ClinGen ExAC gnomAD
CA3454584 rs781954349	939	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA361271296 rs1295693430	940	N>D		No	ClinGen TOPMed
rs1554262551 CA361271322	940	N>K		No	ClinGen gnomAD
CA361271306 rs1415929182	940	N>S		No	ClinGen TOPMed
CA128372734 rs958247947	941	S>G		No	ClinGen Ensembl
CA128372735 rs17855798	941	S>N		No	ClinGen Ensembl
COSM1434122 COSM1434119 CA3454585 COSM1434134 COSM1434133 COSM1434130 COSM1434131 COSM1434125 COSM1434126 COSM1434124 COSM1434127 COSM1434129 COSM1434121 COSM1434120 COSM1434123 rs199928168 COSM1434128 COSM1434132	942	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA361271405 rs1301104421	943	T>A		No	ClinGen TOPMed
CA361271440 rs1554262572	944	D>E		No	ClinGen gnomAD
CA361271462 rs1463725058	945	N>Y		No	ClinGen TOPMed

No associated diseases with Q9Y5I2

11 regional properties for Q9Y5I2

Type	Name	Position	InterPro Accession
domain	Cadherin-like	49 - 137	IPR002126-1
domain	Cadherin-like	138 - 246	IPR002126-2
domain	Cadherin-like	246 - 351	IPR002126-3
domain	Cadherin-like	352 - 566	IPR002126-4
domain	Cadherin-like	583 - 687	IPR002126-5
domain	Cadherin, N-terminal	34 - 116	IPR013164
conserved_site	Cadherin conserved site	234 - 244	IPR020894-1
conserved_site	Cadherin conserved site	444 - 454	IPR020894-2
conserved_site	Cadherin conserved site	554 - 564	IPR020894-3
domain	Cadherin, C-terminal catenin-binding domain	815 - 936	IPR031904
domain	Cadherin, cytoplasmic C-terminal domain	692 - 775	IPR032455

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

2 GO annotations of cellular component

Name	Definition
extracellular region	The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
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
Q5DRF4	PCDHA10	Protocadherin alpha-10	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
Q9UN75	PCDHA12	Protocadherin alpha-12	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
MVSRCSCLGV	QCLLLSLLLL	AAWEVGSGQL	HYSVYEEARH	GTFVGRIAQD	LGLELAELVQ
70	80	90	100	110	120
RLFRVASKRH	GDLLEVNLQN	GILFVNSRID	REELCGRSVE	CSIHLEVIVD	RPLQVFHVDV
130	140	150	160	170	180
EVKDINDNPP	RFSVTEQKLS	IPESRLLDSR	FPLEGASDAD	VGENALLTYK	LSPNEYFVLD
190	200	210	220	230	240
IINKKDKDKF	PVLVLRKLLD	REENPQLKLL	LTATDGGKPE	FTGSVSLLIL	VLDANDNAPI
250	260	270	280	290	300
FDRPVYEVKM	YENQVNQTLV	IRLNASDSDE	GINKEMMYSF	SSLVPPTIRR	KFWINERTGE
310	320	330	340	350	360
IKVNDAIDFE	DSNTYEIHVD	VTDKGNPPMV	GHCTVLVELL	DENDNSPEVI	VTSLSLPVKE
370	380	390	400	410	420
DAQVGTVIAL	ISVSDHDSGA	NGQVTCSLTP	HVPFKLVSTY	KNYYSLVLDS	ALDRERVSAY
430	440	450	460	470	480
ELVVTARDGG	SPPLWATASV	SVEVADVNDN	APAFAQSEYT	VFVKENNPPG	CHIFTVSAWD
490	500	510	520	530	540
ADAQENALVS	YSLVERRLGE	RSLSSYVSVH	AESGKVYALQ	PLDHEELELL	QFQVSARDGG
550	560	570	580	590	600
VPPLGSNLTL	QVFVLDENDN	APALLASPAG	SAGGAVSELV	LRSVVAGHVV	AKVRAVDADS
610	620	630	640	650	660
GYNAWLSYEL	QSAAVGARIP	FRVGLYTGEI	STTRALDETD	SPRQRLLVLV	KDHGEPSLTA
670	680	690	700	710	720
TATVLVSLVE	GSQAPKASSR	ASVGVAPEVA	LVDVNVYLII	AICAVSSLLV	LTLLLYTALR
730	740	750	760	770	780
CSAAPTEGAC	GPVKPTLVCS	SAVGSWSYSQ	QRRQRVCSGE	GLPKADLMAF	SPSLPPCPMV
790	800	810	820	830	840
DVDGEDQSIG	GDHSRKPRQP	NPDWRYSASL	RAGMHSSVHL	EEAGILRAGP	GGPDQQWPTV
850	860	870	880	890	900
SSATPEPEAG	EVSPPVGAGV	NSNSWTFKYG	PGNPKQSGPG	ELPDKFIIPG	SPAIISIRQE
910	920	930	940
PTNSQIDKSD	FITFGKKEET	KKKKKKKKGN	KTQEKKEKGN	STTDNSDQ