AiPD: Autoinhibited Protein Database

Q15262

Gene name	PTPRK (PTPK)
Protein name	Receptor-type tyrosine-protein phosphatase kappa
Names	Protein-tyrosine phosphatase kappa, R-PTP-kappa
Species	Homo sapiens (Human)
KEGG Pathway	hsa:5796
EC number	3.1.3.48: Phosphoric monoester hydrolases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

813-889 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

813-889 (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

3 structures for Q15262

Entry ID	Method	Resolution	Chain	Position	Source
2C7S	X-ray	195 A	A	865-1154	PDB
8A1F	X-ray	300 A	A/B	28-385	PDB
AF-Q15262-F1	Predicted				AlphaFoldDB

919 variants for Q15262

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001251073 rs1482980901 COSM399523 CA365595217	599	Y>C	lung sellar metastasis from primary bronchial carcinoid tumor [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP
rs1447400226 CA365826381	2	D>H		No	ClinGen gnomAD
CA365826372 rs913300266	3	T>K		No	gnomAD ClinGen
rs913300266 CA147038546	3	T>M		No	gnomAD ClinGen
rs913300266 CA365826371	3	T>R		No	gnomAD ClinGen
rs755860640 CA147038542	7	A>P		No	ExAC TOPMed gnomAD ClinGen
rs755860640 CA3992170	7	A>S		No	ExAC TOPMed gnomAD ClinGen
CA147038536 rs966968566	7	A>V		No	TOPMed ClinGen
CA147038532 rs914892596	8	A>V		No	TOPMed gnomAD ClinGen
rs1562691518 CA365826340	9	L>Q		No	ClinGen Ensembl
rs1383936583 CA365826338	10	P>A		No	ClinGen gnomAD
rs1383936583 CA365826337	10	P>S		No	gnomAD ClinGen
CA3992169 rs756292487	11	A>P		No	ExAC TOPMed gnomAD ClinGen
CA3992168 rs569212551	11	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3992167 rs767726156	15	L>F		No	ExAC gnomAD ClinGen
CA365826237 rs1217084813	20	P>L		No	ClinGen gnomAD
rs550181213 CA3992164	20	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs970556224 CA147038498	21	W>C		No	ClinGen TOPMed
rs766846104 CA3992163	21	W>S		No	ExAC gnomAD ClinGen
rs147407880 CA3992162	22	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA365826218 rs1227726831	22	P>S		No	gnomAD ClinGen
CA365826187 rs1446996939	25	G>E		No	ClinGen TOPMed gnomAD
rs773519076 CA3992161	25	G>R		No	ExAC gnomAD ClinGen
CA3992160 rs142802605	26	S>L		No	ESP ExAC gnomAD ClinGen
rs879066240 CA147038489	26	S>P		No	Ensembl ClinGen
rs746682312 CA3992159	27	A>T	Variant assessed as Somatic; 5.187e-05 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3992157 rs771678013	28	Q>E		No	ExAC TOPMed gnomAD ClinGen
rs920203749 CA147038480	28	Q>R		No	ClinGen Ensembl
rs1406502289 CA365826153	29	G>C		No	ClinGen gnomAD
CA365826152 rs1413835020	29	G>D		No	gnomAD ClinGen
CA365826136 rs1183123606	30	Q>H		No	ClinGen gnomAD
CA147038473 rs531770624	31	F>L		No	ClinGen 1000Genomes
rs745426658 CA3992156	32	S>P		No	ExAC TOPMed gnomAD ClinGen
CA3992155 rs564496981	33	A>S		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA147880313 rs376326051	34	G>D		No	ClinGen ESP TOPMed
CA365603370 rs1220815934	36	C>R		No	gnomAD ClinGen
rs774110138 CA3992048	36	C>Y		No	ClinGen ExAC gnomAD
rs1300361619 CA365603364	37	T>A		No	TOPMed ClinGen
CA365603361 rs1341535302	37	T>S		No	TOPMed ClinGen
rs199678395 CA3992047	39	D>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA365603328 rs1216983087	42	P>A		No	TOPMed gnomAD ClinGen
CA365603329 rs1216983087	42	P>S		No	ClinGen TOPMed gnomAD
rs1296665034 CA365603319	43	G>A		No	gnomAD ClinGen
rs1317543723 CA365603323 CA365603322	43	G>R		No	gnomAD ClinGen
CA3992046 rs368459175	44	A>P		No	ESP ExAC TOPMed gnomAD ClinGen
rs368459175 CA147880312	44	A>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA365603317 rs368459175	44	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA3992045 rs753430773	49	Q>H		No	ExAC gnomAD ClinGen
CA365603280 rs1293437396	49	Q>K		No	gnomAD ClinGen
rs769706717 CA147880311	50	D>H		No	ClinGen ExAC TOPMed gnomAD
rs769706717 CA3992044	50	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA3992043 rs748713805	53	D>H		No	ExAC gnomAD ClinGen
CA365603226 rs1463685234	56	E>D		No	ClinGen gnomAD
CA147880310 rs865830987	56	E>K		No	ClinGen Ensembl
rs1170785121 CA365603191	61	S>T		No	ClinGen gnomAD
CA3992039 rs150846194	64	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA365603172 rs747431535	64	E>K		No	ExAC gnomAD ClinGen
CA3992040 rs747431535	64	E>Q		No	ExAC gnomAD ClinGen
rs141428509 CA3992038	66	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs973610355 CA147880309	66	H>Y		No	TOPMed ClinGen
CA365603106 rs1196844753	69	P>A		No	gnomAD ClinGen
rs563899988 CA3992036	70	P>T		No	1000Genomes ExAC gnomAD ClinGen
rs983513819 CA365603086	71	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs983513819 CA147880307	71	E>Q		No	ClinGen TOPMed gnomAD
rs1163869553 CA3992034	72	M>I		No	TOPMed ClinGen
CA365599512 rs1299260005	75	G>V		No	ClinGen TOPMed gnomAD
CA147871909 rs868427142	76	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA365599488 rs1213655511	79	I>V		No	TOPMed ClinGen
rs746266003 CA3991995	80	V>M		No	ExAC gnomAD ClinGen
CA3991993 rs769399446	85	H>D		No	ClinGen ExAC gnomAD
rs184596227 CA3991991	86	D>E		No	1000Genomes ExAC gnomAD ClinGen
rs1323042656 CA365599418	86	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
TCGA novel	88	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs962704052 CA147871907	89	E>V		No	ClinGen gnomAD
CA365599330 rs1562281824	91	A>T		No	ClinGen Ensembl
rs746982340 CA3991989	93	L>R		No	ExAC gnomAD ClinGen
TCGA novel	94	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3991988 rs142881943	97	T>A		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs750247117 CA3991986	98	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1233471622 CA365599191	99	K>R		No	gnomAD ClinGen
CA3991985 rs765081328	100	E>V		No	ClinGen ExAC gnomAD
rs1268132441 CA365599139	101	N>S		No	gnomAD ClinGen
CA147871905 rs764167756	102	D>N		No	ClinGen TOPMed gnomAD
CA365599055 rs1562281629	106	I>T		No	Ensembl ClinGen
rs757429434 CA3991984	106	I>V		No	ClinGen ExAC gnomAD
rs1398380929 CA365598930	113	Y>F		No	ClinGen gnomAD
TCGA novel	115	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1167624323 CA365598885	116	K>E		No	ClinGen gnomAD
CA147871904 rs775688909	117	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1375183632 CA365598848	118	L>M		No	gnomAD ClinGen
rs776730682 CA147871903	118	L>R		No	ClinGen TOPMed
CA365598838 rs1197325195	119	N>D		No	ClinGen gnomAD
TCGA novel	120	P>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs886329149 CA147871902	122	T>A		No	TOPMed gnomAD ClinGen
CA147871901 rs1027706157	124	N>K		No	ClinGen Ensembl
CA3991977 rs774646180	125	I>V		No	ClinGen ExAC gnomAD
CA3991976 rs771313117	127	V>F		No	ExAC gnomAD ClinGen
CA3991975 rs146049848	130	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs776233165 CA3991974	134	L>F		No	ClinGen ExAC gnomAD
CA147871898 rs879030125	135	A>S		No	Ensembl ClinGen
rs200718777 CA3991973	135	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA147871897 rs866713652	137	P>L		No	Ensembl ClinGen
CA365598525 rs1370170994	138	I>V		No	gnomAD ClinGen
CA3991972 rs746541555	139	W>C		No	ClinGen ExAC gnomAD
rs1326266335 CA365598486	140	N>H		No	ClinGen TOPMed
CA3991970 rs771903608	142	T>A		No	ClinGen ExAC gnomAD
COSM3947990 COSM3947989 CA3991968 rs138453562	145	T>M	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA365598399 rs1171203841	146	G>S		No	gnomAD ClinGen
CA3991965 rs778165650	148	D>N		No	ClinGen ExAC TOPMed gnomAD
CA147871894 rs148979001	150	L>F		No	ESP TOPMed gnomAD ClinGen
CA365598356 rs752830168	151	R>G		No	ClinGen ExAC TOPMed gnomAD
rs767701377 CA3991962	151	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA3991963 rs752830168	151	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3991961 rs61757812 RCV000974415	162	N>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs773979573 CA3991914	166	V>I		No	ExAC gnomAD ClinGen
rs1175660944 CA365600230	168	F>L		No	TOPMed gnomAD ClinGen
TCGA novel	169	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1480437114 CA365600218	169	E>K		No	ClinGen gnomAD
rs1233740630 CA365600206	170	A>T		No	gnomAD ClinGen
rs765974469 CA3991913	172	V>G		No	ExAC gnomAD ClinGen
CA365600164 rs1235718778	173	S>*		No	ClinGen gnomAD
CA365600168 rs1583657205	173	S>T		No	ClinGen Ensembl
CA147862944 rs199547215	174	G>E		No	ClinGen 1000Genomes TOPMed gnomAD
CA365600133 rs1334780932	176	R>K		No	ClinGen TOPMed
CA3991911 rs773252542	177	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1449851125 CA365600080	180	I>L		No	ClinGen TOPMed
rs1302791181 CA365600062	181	A>G		No	ClinGen gnomAD
rs1302791181 CA365600060	181	A>V		No	gnomAD ClinGen
rs769814278 CA3991910	182	I>T		No	ExAC gnomAD ClinGen
CA365600001 rs1376983192	186	Q>R		No	ClinGen TOPMed
rs776229528 CA3991908	187	V>I		No	ClinGen ExAC TOPMed gnomAD
rs776229528 CA365599996	187	V>L		No	ClinGen ExAC TOPMed gnomAD
rs768924864 CA3991907	188	L>M		No	ExAC gnomAD ClinGen
TCGA novel	189	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1172904613 CA365599948	190	Y>F		No	ClinGen gnomAD
rs971152529 CA147862941	191	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs774473823 CA3991859	193	D>G		No	ClinGen ExAC gnomAD
rs770893725 CA3991858	194	K>R		No	ClinGen ExAC TOPMed gnomAD
rs778174636 CA3991856	195	S>T		No	ExAC gnomAD ClinGen
rs770286963 CA3991855	196	P>S		No	ExAC gnomAD ClinGen
rs1274282799 CA365599277	197	H>Y		No	TOPMed gnomAD ClinGen
TCGA novel	199	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781634717 CA3991853	200	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA147862686 rs565466379	205	E>D		No	TOPMed ClinGen
CA365599054 rs1246363061	206	V>M		No	TOPMed ClinGen
CA365599018 rs1180710136	208	A>E		No	ClinGen gnomAD
rs1253751416 CA365599008	209	G>R		No	ClinGen gnomAD
rs1206809372 CA365598919	212	A>G		No	ClinGen TOPMed
CA3991847 rs763956147	213	T>A		No	ClinGen ExAC gnomAD
rs1279342358 CA365598845	215	Q>H		No	gnomAD ClinGen
CA3991846 rs760596885	217	I>F		No	ExAC gnomAD ClinGen
CA3991845 rs752557971	221	R>S		No	ClinGen ExAC gnomAD
rs1229276797 CA365598698	222	D>E		No	TOPMed gnomAD ClinGen
rs767288000 CA3991844	224	V>L		No	ExAC TOPMed gnomAD ClinGen
rs767288000 CA365598672	224	V>M		No	ExAC TOPMed gnomAD ClinGen
CA365598641 rs1414630227	225	H>R		No	ClinGen TOPMed gnomAD
rs13198026 CA365598617	226	N>S		No	ClinGen gnomAD
rs13198026 CA147862685	226	N>T		No	gnomAD ClinGen
CA365598505 rs1336779218	231	Q>R		No	gnomAD ClinGen
CA3991764 rs750140925	233	R>*		No	ExAC gnomAD ClinGen
CA3991762 rs757490289	233	R>L		No	ClinGen ExAC TOPMed gnomAD
CA3991763 rs757490289	233	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3991760 rs764260327	236	E>K		No	ExAC gnomAD ClinGen
rs761317393 CA3991759	237	D>G		No	ClinGen ExAC TOPMed gnomAD
CA3991758 rs753217686	238	I>M		No	ExAC gnomAD ClinGen
rs866368847 CA147860299	239	P>L		No	Ensembl ClinGen
CA365596305 rs1430005126	241	A>D		No	gnomAD ClinGen
rs371540453 CA3991757	241	A>S		No	ClinGen ESP ExAC gnomAD
rs1439009896 CA365596268	244	K>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
TCGA novel	244	K>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3991756 rs559585767	246	I>V		No	1000Genomes ExAC gnomAD ClinGen
CA365596218 rs1164207239	247	N>S		No	ClinGen gnomAD
CA3991755 rs774523572	249	R>K		No	ExAC TOPMed gnomAD ClinGen
rs1448317956 CA365596165	253	A>P		No	TOPMed gnomAD ClinGen
rs1448317956 COSM1595801 CA365596164 COSM203623	253	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic]	No	TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA147860298 rs772271201	254	S>T		No	ClinGen Ensembl
rs761448355 CA3991753	261	T>I		No	ClinGen ExAC gnomAD
CA147860296 rs200951004	262	K>R		No	1000Genomes gnomAD ClinGen
CA365596102 rs200951004	262	K>T		No	1000Genomes gnomAD ClinGen
rs368072598 CA147860295	264	D>N		No	ClinGen ESP TOPMed
TCGA novel	265	Q>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1489366429 CA365596077	266	D>N		No	ClinGen gnomAD
CA365596075 rs1489366429	266	D>Y		No	gnomAD ClinGen
CA3991752 rs189581872	267	L>F		No	1000Genomes ExAC ClinGen
CA365596058 rs1192439578	268	Y>F		No	ClinGen TOPMed
CA3991751 rs768130815	269	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs746956631 CA3991750	273	Q>H		No	ClinGen ExAC gnomAD
CA3991748 rs771852470	276	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs771852470 CA3991749	276	R>G		No	ClinGen ExAC gnomAD
CA365596009 rs745686352	276	R>P		No	ExAC TOPMed gnomAD ClinGen
CA3991747 rs745686352	276	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA147860294 rs893458936	279	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
TCGA novel	280	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	280	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs778040917 CA3991743	281	S>T		No	ExAC gnomAD ClinGen
CA3991742 rs756249062	282	N>S		No	ExAC TOPMed gnomAD ClinGen
CA365595897 rs1430979742	284	A>V		No	TOPMed gnomAD ClinGen
CA365595872 rs768084512	285	Q>H		No	ExAC TOPMed gnomAD ClinGen
rs937776510 CA147860293	286	L>F		No	ClinGen TOPMed
CA3991739 rs543677042	287	I>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1376694805 CA365595841	287	I>T		No	ClinGen gnomAD
CA3991738 rs543677042	287	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1562811510 CA365595813	289	R>K		No	Ensembl ClinGen
rs750733128 CA365600637	290	E>D		No	ClinGen ExAC gnomAD
rs763818255 CA3991716	291	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
rs374539512 CA365600617	294	P>S		No	ClinGen ESP TOPMed gnomAD
CA147856350 rs374539512	294	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ESP TOPMed gnomAD ClinGen NCI-TCGA
CA365600613 rs1213891749	295	I>L		No	ClinGen gnomAD
rs1394828423 CA365600606	296	A>T		No	TOPMed ClinGen
rs1202338042 CA365600599	297	P>A		No	gnomAD ClinGen
rs267600800 CA147856349	297	P>L		No	ClinGen Ensembl
CA365600595 rs1327332012	298	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA147856348 rs982597185	302	G>D		No	TOPMed ClinGen
CA365600560 rs1352753634	303	V>A		No	gnomAD ClinGen
CA365600563 rs1229367167	303	V>I		No	ClinGen gnomAD
rs1339312771 CA365600548	305	P>L		No	gnomAD ClinGen
rs76677621 CA3991710	312	L>R		No	1000Genomes ExAC TOPMed ClinGen
rs1316560599 CA365600487	315	N>H		No	ClinGen TOPMed
CA365600470 rs1562746443	317	I>N		No	Ensembl ClinGen
CA365600462 rs1413950685	318	I>T		No	gnomAD ClinGen
rs1472436088 CA365600453	320	D>N		No	ClinGen TOPMed gnomAD
rs748303660 CA3991706	321	G>A		No	ExAC gnomAD ClinGen
rs371948278 CA3991705	323	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs267600798 CA3991704	324	I>T		No	ClinGen ExAC gnomAD
TCGA novel	324	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1421677163 CA365600378 COSM1073073	331	R>*	endometrium [Cosmic]	No	Ensembl ClinGen cosmic curated
CA3991703 rs747047747	331	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA365600374 rs1209626384	332	M>V		No	gnomAD ClinGen
rs1411335756 CA365600366	333	T>P		No	ClinGen gnomAD
TCGA novel	334	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3991701 rs758842627	335	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs147847281 CA3991699	337	W>R		No	ClinGen ESP ExAC gnomAD
rs1193578008 CA365600314	341	H>D		No	ClinGen TOPMed
rs755841341 CA3991698	342	A>V		No	ClinGen ExAC gnomAD
CA3991697 rs111411145	344	N>S		No	ExAC TOPMed gnomAD ClinGen
CA147856343 rs867079869	345	A>V		No	ClinGen TOPMed
CA3991695 rs759140592	346	P>L		No	ExAC gnomAD ClinGen
CA365600278 rs1166549071	347	T>A		No	TOPMed ClinGen
rs1354605817 CA365600255	349	K>R		No	ClinGen TOPMed gnomAD
TCGA novel	350	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414411546 CA365600214	351	W>*		No	gnomAD ClinGen
rs1404607466 CA365600221	351	W>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	TOPMed gnomAD ClinGen NCI-TCGA
rs1404607466 CA365600223	351	W>L		No	TOPMed gnomAD ClinGen
TCGA novel	354	D>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs766425950 CA3991693	355	P>T		No	ExAC gnomAD ClinGen
CA147856342 rs1008871650	357	T>A		No	TOPMed gnomAD ClinGen
COSM1672745 CA147856341 COSM1672746 rs369678964	358	E>K	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ESP TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
rs773116376 CA3991691	360	E>D		No	ExAC gnomAD ClinGen
rs769452445 CA3991690	362	R>*		No	ClinGen ExAC gnomAD
COSM1595802 COSM1073072 rs762135502 CA3991689	362	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs1292608132 CA365600020	365	L>F		No	ClinGen gnomAD
rs1167747638 CA365600005	366	T>I		No	ClinGen gnomAD
CA365599978 rs1226883938	368	P>H		No	ClinGen gnomAD
rs1226883938 CA365599976	368	P>R		No	gnomAD ClinGen
rs1339166934 CA365599984	368	P>T		No	TOPMed ClinGen
CA3991687 rs768871413	369	G>A		No	ClinGen ExAC gnomAD
CA3991685 rs375229548	370	E>G		No	ESP ExAC gnomAD ClinGen
CA3991686 rs747101063 COSM1754476 COSM1754475	370	E>K	urinary_tract [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs746355380 CA3991683	371	G>D		No	ClinGen ExAC gnomAD
rs772631440 CA3991684	371	G>S		No	ExAC gnomAD ClinGen
CA3991680 rs754182499	373	T>M		No	ClinGen ExAC TOPMed gnomAD
CA3991681 rs757597593	373	T>S		No	ExAC gnomAD ClinGen
rs1031996202 CA147856338	375	L>P		No	ClinGen gnomAD
CA3991677 rs765972344	379	P>L		No	ClinGen ExAC TOPMed gnomAD
rs765972344 CA3991676	379	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs754612668 CA3991678	379	P>S		No	ExAC TOPMed gnomAD ClinGen
rs763031778 CA3991675	384	T>R		No	ExAC gnomAD ClinGen
rs763860744 CA3991653	388	E>G		No	ClinGen ExAC TOPMed gnomAD
CA3991652 rs760929668	389	P>L		No	ClinGen ExAC gnomAD
rs775723243 CA3991651	390	M>V		No	ClinGen ExAC TOPMed gnomAD
rs767680641 CA3991650	392	T>S		No	ClinGen ExAC gnomAD
rs1376996521 CA365597224	394	K>E		No	ClinGen gnomAD
CA365597218 rs1302345755	394	K>N		No	ClinGen gnomAD
TCGA novel	395	T>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759551672 CA3991649	397	K>M		No	ClinGen ExAC gnomAD
rs759551672 CA365597201	397	K>T		No	ExAC gnomAD ClinGen
CA365597169 rs1256998259	402	Q>K		No	ClinGen TOPMed
rs771408955 CA3991646	403	A>S		No	ClinGen ExAC gnomAD
CA147845470 rs973031950	404	R>S		No	TOPMed ClinGen
rs564971605 CA3991644	405	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA3991645 rs749791286	405	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA3991641 rs144005793	411	E>A		No	ClinGen ESP
CA365597087 rs753765707	414	G>A		No	gnomAD ClinGen
CA147845469 rs753765707	414	G>V		No	gnomAD ClinGen
CA3991639 rs557353424	418	T>M		No	ClinGen 1000Genomes ExAC gnomAD
rs1002627542 CA147845468	418	T>S		No	TOPMed ClinGen
CA365597057 COSM740239 rs1439315253	419	R>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA365597032 rs1582955511	422	T>N		No	Ensembl ClinGen
CA365597027 rs1328168015	423	F>S		No	gnomAD ClinGen
CA3991637 rs745371597	426	T>N		No	ClinGen ExAC gnomAD
rs545192765 CA147845467	427	I>L		No	1000Genomes ExAC gnomAD ClinGen
rs1488403027 CA365597002	427	I>T		No	TOPMed ClinGen
CA3991636 rs545192765	427	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA3991635 rs757197327	430	H>R		No	ExAC TOPMed gnomAD ClinGen
COSM1595804 COSM1073070 rs375480354 CA3991633	433	R>C	endometrium Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
rs755929142 CA3991632	433	R>H		No	ClinGen ExAC TOPMed gnomAD
rs149802467 CA3991630 CA147845466	436	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	437	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1440361 CA3991629 rs759799993 COSM1440360	437	E>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed
CA365596926 rs1407205940	438	S>N		No	TOPMed ClinGen
CA365596920 rs1165561241	439	K>E		No	ClinGen TOPMed
CA3991626 rs766461424	440	A>S		No	ClinGen ExAC TOPMed gnomAD
CA365596913 rs766461424	440	A>T		No	ExAC TOPMed gnomAD ClinGen
rs770375325 CA3991622	441	D>G		No	ExAC TOPMed gnomAD ClinGen
CA3991623 rs370959041	441	D>Y		No	ESP ExAC TOPMed ClinGen
CA365596887 rs1386581406	444	D>N		No	gnomAD ClinGen
rs762282122 CA3991621	445	M>V		No	ExAC gnomAD ClinGen
CA365596865 rs1464167376	446	D>E		No	gnomAD ClinGen
TCGA novel	447	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777065040 CA3991620	447	P>R		No	ClinGen ExAC gnomAD
rs1262079112 CA365596861	447	P>S		No	ClinGen gnomAD
TCGA novel	448	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	451	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365596826 rs745517107	452	H>L		No	ClinGen ExAC gnomAD
CA3991618 rs745517107	452	H>R		No	ExAC gnomAD ClinGen
rs1277245244 CA365596819	453	V>A		No	ClinGen TOPMed
CA365596817 rs1223157915	454	V>M		No	TOPMed gnomAD ClinGen
rs1295496390 CA365596801	456	H>Y		No	gnomAD ClinGen
CA147845464 rs921484379	461	T>A		No	ClinGen TOPMed
rs748700551 CA3991615	462	N>D		No	ClinGen ExAC gnomAD
rs199513206 CA3991614	462	N>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365596719 rs1562564173	468	I>N		No	ClinGen Ensembl
CA365596700 rs1366822695	471	N>S		No	gnomAD ClinGen
rs549289586 CA3991610	475	R>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365596653 rs1182545728	478	S>G		No	TOPMed ClinGen
CA365596649 rs1413117521	478	S>N		No	TOPMed ClinGen
rs377399622 CA3991607	479	E>G		No	ESP ExAC TOPMed gnomAD ClinGen
CA365596626 rs1362365544	481	T>I		No	ClinGen TOPMed
CA365596628 rs1362365544	481	T>K		No	ClinGen TOPMed
rs765839785 CA3991605	482	I>V		No	ClinGen ExAC TOPMed gnomAD
CA3991604 rs762401037	483	I>T		No	ClinGen ExAC gnomAD
CA147845462 rs760644863	488	D>E		No	Ensembl ClinGen
TCGA novel	491	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs61756668 CA3991585	493	V>I		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA147844825 rs61756668	493	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs775654572 CA3991583	499	Q>R		No	ExAC TOPMed gnomAD ClinGen
CA147844823 rs1010967885	501	T>A		No	gnomAD ClinGen
CA365596485 rs1470810529	502	S>T		No	ClinGen gnomAD
CA147844822 rs200501268	505	N>S		No	ClinGen 1000Genomes
CA365596441 rs1562552976	508	F>I		No	Ensembl ClinGen
CA147844819 rs111324205	510	N>D		No	TOPMed gnomAD ClinGen
CA365596408 rs1158639909	510	N>I		No	TOPMed gnomAD ClinGen
rs111324205 CA365596412	510	N>Y		No	TOPMed gnomAD ClinGen
CA3991579 rs369711492	512	K>E		No	ClinGen ESP ExAC gnomAD
CA3991578 rs747614626	513	E>D		No	ClinGen ExAC gnomAD
CA365596366 rs1470475669	513	E>V		No	gnomAD ClinGen
rs776651524 CA3991577	517	P>T		No	ClinGen ExAC gnomAD
CA3991576 rs768418509	518	N>D		No	ExAC gnomAD ClinGen
CA3991575 rs746824856	518	N>S		No	ClinGen ExAC gnomAD
rs1205850168 CA365596286	520	I>V		No	gnomAD ClinGen
rs1267893323 CA365596269	521	I>V		No	gnomAD ClinGen
CA365596258 rs1170581209	522	T>A		No	TOPMed ClinGen
rs746065031 CA3991572	523	Q>R		No	ExAC TOPMed gnomAD ClinGen
rs141536662 CA147844816	525	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs749452894	526	I>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA365595708 rs1486066477	526	I>T		No	gnomAD ClinGen
CA365595694 rs1389747416	528	Y>C		No	gnomAD ClinGen
rs962203719 CA147844705	530	S>N		No	ClinGen TOPMed
CA3991549 rs777701770	532	R>I		No	ExAC TOPMed ClinGen
CA3991550 rs765901467	532	R>INPI*		No	ClinGen ExAC
CA365595664 rs777701770	532	R>K		No	ClinGen ExAC TOPMed
CA3991546 rs753117011	533	S>T		No	ClinGen ExAC
CA3991541 rs770354840	534	F>Y		No	ExAC ClinGen
CA147844704 COSM1073068 COSM1595805 rs781707391	537	A>V	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
CA365595629 rs1245356572	538	V>I		No	ClinGen gnomAD
CA3991539 rs755356478	539	P>A		No	ClinGen ExAC gnomAD
CA3991538 rs751860553	539	P>L		No	ExAC TOPMed gnomAD ClinGen
CA365595622 rs755356478	539	P>S		No	ClinGen ExAC gnomAD
CA3991537 rs764870951	541	A>G		No	ClinGen ExAC gnomAD
rs1339507189 CA365595611	541	A>T		No	gnomAD ClinGen
rs764870951 CA365595609	541	A>V		No	ClinGen ExAC gnomAD
rs753446297 CA365595595	544	P>A		No	ExAC TOPMed gnomAD ClinGen
rs753446297 CA3991535	544	P>S		No	ExAC TOPMed gnomAD ClinGen
CA365595587 rs1272849804	545	Q>P		No	gnomAD ClinGen
rs1346043011 CA365595576	547	V>L		No	ClinGen gnomAD
TCGA novel	548	S>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	550	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867004413 CA147844702	551	W>*		No	TOPMed ClinGen
rs867004413 CA365595543	551	W>C		No	ClinGen TOPMed
rs1427855723 CA365595519	555	H>D		No	gnomAD ClinGen
CA3991528 rs759411376	559	M>I		No	ClinGen ExAC TOPMed gnomAD
CA3991529 rs772079987	559	M>K		No	ExAC TOPMed gnomAD ClinGen
rs775319360 CA3991530	559	M>L		No	ExAC gnomAD ClinGen
rs1176143736 CA365595480	560	H>R		No	ClinGen TOPMed gnomAD
rs774284983 CA3991527	561	L>F		No	ExAC TOPMed gnomAD ClinGen
rs749453569 CA3991525	562	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA3991526 rs150342971	562	H>Y		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs183464331 CA3991524	563	P>R		No	1000Genomes ExAC gnomAD ClinGen
CA3991523 rs201423083	566	T>M	Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA]	No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3991521 rs137966328	571	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA147844699 rs866373642	572	R>K		No	Ensembl ClinGen
CA3991520 rs755407828	574	S>N		No	ClinGen ExAC gnomAD
CA147844698 rs950582289	575	T>M		No	TOPMed ClinGen
rs1372614538 CA365595344	581	P>L		No	ClinGen gnomAD
CA147844696 rs1026170077	582	A>T		No	ClinGen Ensembl
CA147844695 rs981362519	584	A>T		No	ClinGen Ensembl
CA365595326 rs1298815416	584	A>V		No	ClinGen gnomAD
CA3991516 rs753400981	585	I>V		No	ExAC gnomAD ClinGen
rs763760310 CA3991515	586	N>S		No	ExAC gnomAD ClinGen
rs146941015 CA3991514	587	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs146941015 CA3991513	587	V>L		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	595	T>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1342217112 CA365595246	595	T>S		No	TOPMed ClinGen
CA365595241 rs1206625806	596	L>V		No	TOPMed ClinGen
CA365595229 rs1444860329	598	D>N		No	ClinGen gnomAD
rs1482980901 CA365595218	599	Y>S		No	TOPMed ClinGen
rs968224441 CA147844279	600	E>G		No	TOPMed ClinGen
COSM203605 rs767114634 CA3991494	602	V>A	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs767114634 CA365595197	602	V>D		No	ClinGen ExAC TOPMed gnomAD
rs1203138385 CA365595194	603	D>H		No	gnomAD ClinGen
rs1261200103 CA365595177	605	S>F		No	gnomAD ClinGen
CA3991493 rs755010148	607	N>S		No	ExAC gnomAD ClinGen
CA365595158 rs1319945582	608	E>G		No	ClinGen gnomAD
CA147844278 rs956201795	610	A>D		No	ClinGen gnomAD
rs766293736 CA3991491	613	I>V		No	ClinGen ExAC gnomAD
CA365595117 rs1452466697	615	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
TCGA novel	617	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772989952 CA3991489	621	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs1291083842 CA365595068	622	A>V		No	ClinGen gnomAD
CA3991488 rs765441726	627	I>V		No	ExAC gnomAD ClinGen
CA365602703 rs1268043408	633	V>A		No	gnomAD ClinGen
CA147191727 rs770053385	638	H>Q		No	TOPMed ClinGen
rs775635931 CA3991467 CA3991466	640	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs772515451 CA365602653	641	R>*		No	ExAC TOPMed gnomAD ClinGen
rs772515451 CA365602654	641	R>G		No	ExAC TOPMed gnomAD ClinGen
CA3991464 rs200838927	641	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365602647 rs1400122829	642	T>N		No	gnomAD ClinGen
rs370400586 COSM2149282 COSM2149281 CA3991463	643	K>E	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ESP ExAC gnomAD ClinGen cosmic curated NCI-TCGA
rs147857312 CA3991462	643	K>N		No	ClinGen ESP ExAC gnomAD
CA365602638 rs1410547835	644	R>G		No	TOPMed ClinGen
rs528419212 CA147191717	644	R>K		No	Ensembl ClinGen
rs564029141 CA147191714	645	E>K		No	Ensembl ClinGen
rs1158646476 CA365602622	646	A>D		No	TOPMed ClinGen
rs377188182 CA3991460	647	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1225903196 CA365602609	648	A>V		No	ClinGen gnomAD
CA3991458 COSM740241 rs746581345	649	M>I	lung [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
CA3991459 rs754614588	649	M>V		No	ClinGen ExAC TOPMed gnomAD
CA3991457 rs779600131	651	C>R		No	ClinGen ExAC gnomAD
rs758312693 CA3991456	654	V>A		No	ExAC gnomAD ClinGen
rs1224059293 CA365602530	658	Y>C		No	TOPMed ClinGen
CA365602522 rs535311665	659	Q>*		No	ClinGen 1000Genomes gnomAD
CA365602520 rs535311665	659	Q>E		No	1000Genomes gnomAD ClinGen
CA147191703 rs535311665	659	Q>K		No	1000Genomes gnomAD ClinGen
CA3991453 rs757066790	660	N>I		No	ClinGen ExAC
rs1176983763 CA365602458	662	M>I		No	ClinGen gnomAD
CA147191695 rs1053196378	662	M>T		No	ClinGen Ensembl
CA147191690 rs1016379668	663	S>G		No	ClinGen TOPMed gnomAD
CA147191687 rs747546213	663	S>I		No	ClinGen gnomAD
rs747546213 CA365602446	663	S>T		No	ClinGen gnomAD
CA3991452 rs753570615 CA147191684	664	G>R		No	ExAC gnomAD ClinGen
rs1438514512 CA365602435	665	G>C		No	gnomAD ClinGen
rs760874630 CA3991450	665	G>D		No	ClinGen ExAC TOPMed gnomAD
rs760874630 CA365602429	665	G>V		No	ExAC TOPMed gnomAD ClinGen
CA365602407 rs1202042530	667	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
rs759496055 CA3991447	671	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
TCGA novel	675	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs867114186 CA147191667	675	P>S		No	ClinGen Ensembl
rs1279524835 CA365602284	676	P>L		No	gnomAD ClinGen
rs1237649529 CA365602281	677	G>R		No	ClinGen gnomAD
CA3991444 rs771511753	678	N>D		No	ClinGen ExAC gnomAD
CA365602263 rs1481144830	678	N>S		No	ClinGen TOPMed
CA365602209 rs1176884785	682	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs768478474 CA3991441	684	P>L		No	ExAC gnomAD ClinGen
TCGA novel	684	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365602123 rs1470857059	689	D>G		No	gnomAD ClinGen
CA365602107 rs1394498557	690	N>S		No	ClinGen TOPMed
rs370127622 CA3991437	691	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
CA3991438 rs771642405	691	R>W	Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs757118189 CA3991435	696	F>I		No	ClinGen ExAC gnomAD
rs1444217914 CA365601970	700	P>L		No	gnomAD ClinGen
CA365601961 rs1374203084	701	L>W		No	TOPMed ClinGen
CA365601949 rs1562523269	702	A>V		No	ClinGen Ensembl
CA3991433 rs777523499	703	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs752996625 CA3991431	704	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3991430 rs201874890	704	R>H		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs759679651 CA3991429	705	K>E		No	ExAC gnomAD ClinGen
rs751529805 CA3991428	705	K>N		No	ClinGen ExAC TOPMed gnomAD
CA147191612 rs948979625	706	G>E		No	TOPMed gnomAD ClinGen
rs1243228293 CA365601927	706	G>R		No	gnomAD ClinGen
rs948979625 CA365601924	706	G>V		No	ClinGen TOPMed gnomAD
CA365601915 rs1324497811	708	N>D		No	gnomAD ClinGen
CA365601896 rs1317470515	710	Y>C		No	gnomAD ClinGen
rs139493141 CA147191608	713	A>V		No	ESP TOPMed gnomAD ClinGen
CA365601864 CA365601865 rs1161739247	714	M>I		No	ClinGen TOPMed gnomAD
CA365601837 rs1582829849	718	E>G		No	ClinGen Ensembl
CA365601840 rs1424138902	718	E>K		No	gnomAD ClinGen
CA3991424 rs770248575	719	K>M		No	ExAC gnomAD ClinGen
rs112498575 CA147190751	722	K>R		No	Ensembl ClinGen
CA3991403 rs762251977	726	V>I		No	ExAC TOPMed gnomAD ClinGen
CA3991404 rs762251977	726	V>L		No	ExAC TOPMed gnomAD ClinGen
CA3991402 COSM362487 rs377279284	727	R>C	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA365601429 rs377279284	727	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA3991401 rs767266357	727	R>H		No	ExAC gnomAD ClinGen
rs759089264 CA3991400	730	T>I		No	ExAC gnomAD ClinGen
rs773892380 CA3991399	732	A>S		No	ClinGen ExAC gnomAD
rs1314081772 CA365605841	733	A>G		No	ClinGen TOPMed
rs915710761 CA147188946	733	A>P		No	ClinGen TOPMed
CA3991366 rs746748895	734	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3991365 rs780434331	736	E>A		No	ExAC gnomAD ClinGen
CA365605794 rs1460178656	740	I>M		No	TOPMed ClinGen
rs746011952 CA3991363	740	I>T		No	ExAC gnomAD ClinGen
rs1200861363 CA365605791	741	P>S		No	TOPMed ClinGen
rs1051756905 CA147188935	744	A>D		No	ClinGen Ensembl
rs754334076 CA365605772	744	A>S		No	ExAC TOPMed gnomAD ClinGen
rs754334076 CA3991360	744	A>T		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	747	T>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1453770204 CA365605746	748	D>H		No	gnomAD ClinGen
CA365605737 rs1176043175	749	R>K		No	TOPMed ClinGen
CA3991359 rs189751935	751	V>M		No	1000Genomes ExAC gnomAD ClinGen
CA3991358 rs756486782	762	V>M		No	ExAC gnomAD ClinGen
rs752995547 CA3991357	766	L>I		No	ClinGen ExAC gnomAD
rs149435736 CA3991356	769	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs149435736 CA3991355	769	V>L		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
rs139946703 CA3991353	770	V>A		No	ESP ExAC TOPMed ClinGen
rs776453278 CA3991351	771	I>L		No	ExAC TOPMed gnomAD ClinGen
rs776453278 CA3991352	771	I>V		No	ExAC TOPMed gnomAD ClinGen
CA147188911 rs941947091	772	L>I		No	ClinGen Ensembl
rs1258026893 CA365605587	773	I>T		No	ClinGen gnomAD
CA365605584 rs1307225530	774	V>I		No	ClinGen gnomAD
TCGA novel	776	K>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365605367 rs1310555489	778	K>N		No	ClinGen TOPMed
rs1372005916 CA365605349	781	K>T		No	TOPMed ClinGen
TCGA novel	782	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150668582 CA3991294	783	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA3991293 rs143992147	783	R>H		No	ESP ExAC TOPMed gnomAD ClinGen
CA365605334 rs143992147	783	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA365605337 rs150668582	783	R>S		No	ESP ExAC TOPMed gnomAD ClinGen
TCGA novel	783	R>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3991289 rs767630089	785	D>E		No	ExAC TOPMed gnomAD ClinGen
rs752190356 CA3991291	785	D>G		No	ExAC gnomAD ClinGen
CA3991290 rs752190356	785	D>V		No	ClinGen ExAC gnomAD
rs1297530585 CA365605316 COSM1568086 COSM1568087	786	A>D	large_intestine [Cosmic]	No	gnomAD ClinGen cosmic curated
rs1400647255 CA365605312	787	M>L		No	ClinGen gnomAD
TCGA novel	787	M>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3991288 rs376245074	790	T>I		No	ESP ExAC TOPMed gnomAD ClinGen
rs199961149 CA3991287	791	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1404970228 CA365605285	791	R>W		No	ClinGen gnomAD
CA3991286 rs766169588	795	T>I		No	ExAC gnomAD ClinGen
rs1372973061 CA365605242	797	M>V		No	ClinGen gnomAD
rs112315205 CA3991284	798	V>A		No	ClinGen ExAC gnomAD
rs762618719 CA3991285	798	V>M		No	ClinGen ExAC TOPMed gnomAD
CA147187598 rs138044811	803	R>Q		No	ESP gnomAD ClinGen
CA365605195 rs1219705848	804	S>G		No	ClinGen gnomAD
rs765381074 CA3991283	804	S>N		No	ExAC gnomAD ClinGen
CA3991282 rs200901139	807	D>H		No	1000Genomes ExAC gnomAD ClinGen
rs867660083 CA147187593	808	Q>*		No	ClinGen Ensembl
CA147187591 rs527469108	809	S>N		No	1000Genomes ClinGen
rs1204595402 CA365605154	810	T>A		No	ClinGen Ensembl
COSM3777082 COSM3777083 CA365605147 rs1436393002	811	L>V	Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA3991281 rs776685235	814	E>D		No	ClinGen ExAC TOPMed gnomAD
CA3991280 rs146950732	815	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs776256048 CA3991278	817	L>P		No	ClinGen ExAC TOPMed gnomAD
CA3991277 rs776256048	817	L>R		No	ClinGen ExAC TOPMed gnomAD
rs142735468 CA3991276	819	I>L		No	ESP ExAC TOPMed gnomAD ClinGen
rs142735468 CA3991275	819	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs769568034 CA3991273	823	D>G		No	ClinGen ExAC gnomAD
CA3991274 rs777572122	823	D>H		No	ExAC gnomAD ClinGen
rs747719411 CA3991272	824	Q>E		No	ExAC gnomAD ClinGen
CA147187567 rs560357867	824	Q>L		No	1000Genomes ClinGen
rs1171904258 CA365605055	825	H>R		No	ClinGen TOPMed gnomAD
rs754914695 CA3991270	825	H>Y		No	ClinGen ExAC gnomAD
rs769375380 CA147187559	826	N>D		No	ClinGen Ensembl
CA365605047 rs373618059	826	N>K		No	ESP ExAC TOPMed gnomAD ClinGen
rs965366458 CA147187555	827	F>S		No	ClinGen TOPMed
CA365604877 rs1199256365	831	Y>C		No	ClinGen gnomAD
CA3991196 rs138674624	833	N>K		No	ESP ExAC TOPMed gnomAD ClinGen
rs917532015 CA147184662	833	N>S		No	ClinGen TOPMed gnomAD
rs780769669 CA3991195	834	H>D		No	ExAC gnomAD ClinGen
CA365604832 rs1445715492	838	A>T		No	gnomAD ClinGen
rs1309138913 CA365604810	841	S>C		No	TOPMed ClinGen
COSM1241636 CA3991192 COSM1241635 rs201848981	842	R>C	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA3991191 rs201761262	842	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201745222 CA3991190	843	L>F		No	ExAC TOPMed gnomAD ClinGen
TCGA novel	844	L>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1467671238 CA365604788	845	D>Y		No	gnomAD ClinGen
rs372471881 CA3991188	846	V>I		No	1000Genomes ExAC gnomAD ClinGen
CA3991187 rs199733311	848	R>C		No	ESP ExAC TOPMed gnomAD ClinGen
rs149112314 COSM1440352 CA3991186 COSM1440353	848	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ESP ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA365604766 rs1442313818	849	Y>H		No	ClinGen TOPMed gnomAD
rs762769916 CA3991185	850	L>I		No	ExAC gnomAD ClinGen
CA147184633 rs373153257	851	C>R		No	ClinGen ESP TOPMed gnomAD
rs145087914 CA3991183	852	E>K		No	ESP ExAC TOPMed gnomAD ClinGen
rs1238961835 CA365604737	853	G>E		No	gnomAD ClinGen
rs747139450 COSM1440351 CA3991179 COSM1440350	854	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA365604711 rs1225173599	857	P>R		No	ClinGen gnomAD
CA365604705 rs1172207833	858	Y>C		No	ClinGen TOPMed
rs1416629341 CA365604694	859	Q>H		No	ClinGen gnomAD
CA365604692 rs1411981481	860	T>A		No	ClinGen TOPMed
rs372899705 CA3991176	860	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1370369086 CA365604673	863	L>V		No	TOPMed ClinGen
CA3991173 rs754164127	866	A>V		No	ClinGen ExAC gnomAD
rs375206155 CA147184594	867	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
CA147184587 rs758815269	869	V>G		No	Ensembl ClinGen
CA365604587 rs1214824316	876	I>N		No	TOPMed ClinGen
rs371512330 CA147184578	877	N>S		No	ESP TOPMed gnomAD ClinGen
TCGA novel	878	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1328523387 CA365604557	880	K>R		No	ClinGen TOPMed gnomAD
CA3991170 rs751111661	882	S>*		No	ExAC gnomAD ClinGen
CA365604541 rs1349725443	883	D>H		No	gnomAD ClinGen
CA365604523 rs1292492882	885	Y>S		No	ClinGen TOPMed
TCGA novel	893	S>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3991149 rs757847010	894	F>L		No	ExAC gnomAD ClinGen
CA3991148 rs558701826	895	F>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	895	F>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA147183643 rs866763128	898	Q>H		No	Ensembl ClinGen
CA365604407 rs1436009411	899	S>P		No	gnomAD ClinGen
CA365604400 rs1389799295	900	A>S		No	ClinGen TOPMed
rs765150382 CA3991146	901	S>C		No	ExAC gnomAD ClinGen
rs1445057798 CA365604376	903	D>E		No	gnomAD ClinGen
CA365604379 rs1244830343	903	D>V		No	ClinGen gnomAD
CA3991145 rs761792508	904	V>I		No	ClinGen ExAC TOPMed gnomAD
rs377176766 CA147183632	907	K>Q		No	Ensembl ClinGen
rs1381895355 CA365604347	908	D>H		No	ClinGen TOPMed
rs763877925	908	D>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA365604348 rs1381895355	908	D>N		No	ClinGen TOPMed
CA3991141 rs760499409	912	A>P		No	ExAC gnomAD ClinGen
CA3991140 rs533847533	914	N>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	914	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM1222663 rs1477472561 COSM1222662 CA365604299	914	N>K	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA365604296 COSM1263492 rs1397159308 COSM1263491	915	R>*	liver oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs746002316 COSM3393801 CA3991138 COSM3393800	915	R>L	pancreas [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs746002316 CA365604295	915	R>P		No	ClinGen ExAC TOPMed gnomAD
rs746002316 CA3991139	915	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA365604236 rs1353346924	922	Y>C		No	gnomAD ClinGen
CA147182662 rs902630929	923	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
CA365604211 rs1387930956	926	R>G		No	ClinGen TOPMed gnomAD
rs1310555538 CA365604203	927	V>L		No	ClinGen TOPMed
rs1225879032 CA365604185	929	L>F		No	ClinGen gnomAD
rs756843098 CA3991106	931	P>L		No	ExAC TOPMed gnomAD ClinGen
rs1010869659 CA365604175	931	P>S		No	ClinGen TOPMed gnomAD
CA147182656 rs1010869659	931	P>T		No	ClinGen TOPMed gnomAD
CA3991104 rs567633729	932	V>I		No	ExAC TOPMed gnomAD ClinGen
rs1255314738 CA365604159	934	D>N		No	ClinGen TOPMed
CA3991102 rs538587261	935	D>G		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA365604144 rs1159505160	936	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA365604081 rs1475530494	945	Y>H		No	gnomAD ClinGen
rs1488072117 CA365604062	947	D>G		No	gnomAD ClinGen
rs1214597941 CA365604066	947	D>N		No	gnomAD ClinGen
rs1014035242 CA147180648	951	R>I		No	ClinGen gnomAD
rs757366265 CA3991055	956	I>T		No	ClinGen ExAC gnomAD
CA365603932 rs1279088548	956	I>V		No	TOPMed gnomAD ClinGen
rs202200835 CA3991037	962	V>I		No	ExAC gnomAD ClinGen
rs764050379 CA3991036	963	H>N		No	ExAC gnomAD ClinGen
CA147179687 rs868817217	964	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
CA3991035 rs756169195	965	T>I		No	ExAC gnomAD ClinGen
CA3991034 rs753269824	966	V>A		No	ExAC gnomAD ClinGen
rs1401587284 CA365603858	966	V>L		No	gnomAD ClinGen
CA365603851 rs1310877991	967	Y>N		No	ClinGen Ensembl
TCGA novel	969	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365603819 rs1161894838	971	R>G		No	ClinGen gnomAD
TCGA novel	972	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768068004 CA3991033	972	M>T		No	ExAC gnomAD ClinGen
CA3991032 rs760043516	974	W>C		No	ExAC gnomAD ClinGen
rs1377320240 CA365603771	977	Q>P		No	gnomAD ClinGen
rs1187986953 CA365603750	980	C>S		No	gnomAD ClinGen
rs1475920176 CA365603745	981	I>L		No	ClinGen gnomAD
CA365603724 rs1482196311	984	V>I		No	TOPMed ClinGen
CA365603715 rs1192008386	985	T>K		No	gnomAD ClinGen
TCGA novel	987	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1303546895 CA365603675	991	G>C		No	ClinGen gnomAD
CA3991030 rs774840923	991	G>V		No	ExAC gnomAD ClinGen
rs1334011560	992	R>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA3991029 rs745973696	992	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs867371885 CA147179627 COSM1073062 COSM1595809	992	R>W	Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic]	No	TOPMed ClinGen cosmic curated NCI-TCGA
rs1357389766 CA365603640	995	C>Y		No	TOPMed ClinGen
CA365603632 rs1257807538	996	Y>C		No	ClinGen gnomAD
rs146586134 CA3991016	1001	D>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA365603588 rs1391103295	1002	D>N		No	TOPMed ClinGen
CA147179265 rs1016470486	1002	D>V		No	TOPMed gnomAD ClinGen
CA3991015 rs752818034	1003	T>I		No	ExAC gnomAD ClinGen
rs200372095 CA3991013	1005	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs752009976 CA3991012	1006	Y>C		No	ClinGen ExAC gnomAD
TCGA novel	1007	G>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868122151 CA147179222	1007	G>D		No	ClinGen Ensembl
CA147179220 rs932483875	1010	K>R		No	gnomAD ClinGen
CA365603520 rs1445176709	1012	T>K		No	ClinGen TOPMed gnomAD
COSM1672742 COSM1672741 CA365603519 rs1445176709	1012	T>M	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA3991011 rs766681454	1014	V>A		No	ClinGen ExAC gnomAD
COSM1440345 rs1354520365 COSM1440344 CA365603509	1014	V>I	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
COSM1634476 rs763331052 COSM1634477 CA3991010	1016	M>V	liver [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
CA147179197 rs761311482	1018	P>T		No	ClinGen Ensembl
rs763737762 CA3991008	1020	A>S		No	ExAC gnomAD ClinGen
CA365603440 rs1453476758	1024	V>F		No	TOPMed gnomAD ClinGen
CA365603442 rs1453476758	1024	V>I		No	ClinGen TOPMed gnomAD
CA365603434 rs1395448859	1025	R>K		No	gnomAD ClinGen
CA365603424 rs1319029715	1026	T>I		No	gnomAD ClinGen
rs368958277 CA3991007	1027	F>L		No	ESP ExAC TOPMed gnomAD ClinGen
CA365603412 rs755908605	1028	T>I		No	ClinGen TOPMed gnomAD
CA147179192 rs755908605	1028	T>S		No	TOPMed gnomAD ClinGen
CA365603406 rs1270599618	1030	E>Q		No	ClinGen TOPMed
rs61757811 CA365603150 CA3990991	1032	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs532852314 CA3990989	1033	G>A		No	1000Genomes ExAC gnomAD ClinGen
rs532852314 CA147175713	1033	G>E		No	ClinGen 1000Genomes ExAC gnomAD
CA365603138 rs767045023	1034	Y>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC TOPMed gnomAD ClinGen NCI-TCGA
CA3990987 rs767045023	1034	Y>S		No	ExAC TOPMed gnomAD ClinGen
rs758998288 CA3990986	1035	N>D		No	ClinGen ExAC gnomAD
rs139586825 CA3990985	1035	N>S		No	ESP ExAC TOPMed gnomAD ClinGen
CA3990984 rs766336327	1038	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs762712619 CA3990983	1038	R>H		No	ExAC TOPMed gnomAD ClinGen
rs375068975 CA3990981	1040	V>F		No	ESP ExAC TOPMed gnomAD ClinGen
rs748410575 CA3990980	1041	K>E		No	ExAC gnomAD ClinGen
rs201396562 CA3990979	1046	T>M		No	ClinGen ExAC TOPMed gnomAD
CA365602983 rs1159613628	1047	G>V		No	gnomAD ClinGen
rs1415612274 CA365602981	1048	W>R		No	ClinGen gnomAD
TCGA novel	1050	D>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs996017827 CA147175672	1051	H>R		No	TOPMed gnomAD ClinGen
rs1475581280 CA365602948	1052	G>A		No	ClinGen gnomAD
TCGA novel	1055	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA365602921 rs1485700786	1056	H>L		No	gnomAD ClinGen
CA365602922 rs1485700786	1056	H>R		No	gnomAD ClinGen
rs987656941 CA147175649	1058	T>S		No	ClinGen Ensembl
rs1243020600 CA365602905	1059	G>W		No	ClinGen gnomAD
rs779219457 CA3990973	1062	S>F		No	ClinGen ExAC gnomAD
rs201674956 CA3990971	1065	R>Q		No	1000Genomes ExAC TOPMed gnomAD ClinGen
CA3990972 rs757577999	1065	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3990969 rs754548492	1066	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA365602825 rs1179430735	1072	P>R		No	ClinGen TOPMed gnomAD
CA3990966 rs762912929	1078	I>V		No	ExAC gnomAD ClinGen
CA3990964 rs765143497	1079	V>I		No	ExAC TOPMed gnomAD ClinGen
rs1428114359 CA365602778	1080	V>L		No	ClinGen gnomAD
CA3990942 rs764462908	1084	A>D		No	ClinGen ExAC gnomAD
rs760920964 CA3990941	1085	G>V		No	ClinGen ExAC gnomAD
rs958047179 CA147173691	1087	G>E		No	Ensembl ClinGen
rs1302382517 CA365602500	1088	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1221941376 CA365602494	1089	T>A		No	ClinGen TOPMed
CA365602451 rs1562380417	1092	Y>C		No	Ensembl ClinGen
rs1234772256 CA365602359	1098	M>I		No	TOPMed gnomAD ClinGen
CA147173684 rs1033152922	1100	D>G		No	ClinGen Ensembl
CA365602326 rs1332712796	1101	M>V		No	ClinGen gnomAD
CA3990938 rs759477821	1105	E>G		No	ExAC gnomAD ClinGen
rs1390833759 CA365602268	1105	E>Q		No	gnomAD ClinGen
CA365602238 rs1300037774	1107	V>D		No	gnomAD ClinGen
rs1300037774 CA365602234	1107	V>G		No	ClinGen gnomAD
rs999458334 CA147173651	1108	V>A		No	gnomAD ClinGen
CA365602218 rs1375095077	1109	D>Y		No	ClinGen gnomAD
rs1174614289 CA365602194	1110	I>M		No	gnomAD ClinGen
TCGA novel	1111	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777693873 CA3990936	1112	N>S		No	ClinGen ExAC TOPMed gnomAD
rs770010293 CA3990933	1116	A>P		No	ExAC gnomAD ClinGen
CA365602074 rs899809154	1119	S>F		No	gnomAD ClinGen
CA147173631 rs899809154	1119	S>Y		No	gnomAD ClinGen
CA147173607 rs576979836	1120	R>Q		No	ClinGen 1000Genomes gnomAD
CA3990932 rs746692317 COSM276955	1120	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA365602060 rs1172139367	1121	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	TOPMed ClinGen NCI-TCGA
COSM1440340 COSM1440341 rs758400881 CA3990931	1121	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs757927142 CA3990930	1122	I>V		No	ClinGen ExAC TOPMed gnomAD
CA147173601 rs79403846	1125	V>A		No	ClinGen Ensembl
rs749951891 CA3990929	1125	V>F		No	ExAC gnomAD ClinGen
TCGA novel	1125	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779054647 CA3990928	1126	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1336319802 CA365601989	1126	Q>R		No	ClinGen gnomAD
CA147173397 rs75254225	1130	Q>K		No	Ensembl ClinGen
CA365601791 rs1324951923	1131	Y>*		No	ClinGen gnomAD
rs1345883420 CA365601789	1132	I>V		No	TOPMed ClinGen
rs1391388112 CA365601777	1133	F>L		No	ClinGen gnomAD
CA365601780 rs1383161476	1133	F>Y		No	ClinGen gnomAD
CA3990908 rs778539463	1135	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA3990907 rs756788142	1136	D>N		No	ClinGen ExAC gnomAD
CA365601757 rs1210609455	1136	D>V		No	ClinGen Ensembl
CA147173334 rs768283200	1138	I>V		No	Ensembl ClinGen
CA3990906 rs753849275	1141	A>G		No	ExAC gnomAD ClinGen
TCGA novel	1142	C>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3990905 rs777515739	1144	C>S		No	ClinGen ExAC gnomAD
rs1371015617 CA365601701	1144	C>W		No	ClinGen gnomAD
rs76046317 CA147173292	1146	E>K		No	Ensembl ClinGen
CA365601673 rs1453275791	1149	I>L		No	TOPMed ClinGen
CA3990904 rs755943623	1150	P>T		No	ExAC gnomAD ClinGen
rs1050650422 CA147173263	1151	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs752419969 CA3990903	1153	E>Q		No	ExAC TOPMed gnomAD ClinGen
CA365601596 rs1209448082	1160	D>G		No	TOPMed gnomAD ClinGen
CA3990901 rs139802408	1160	D>H		No	1000Genomes ExAC gnomAD ClinGen
rs1230118620 CA365601591	1161	M>V		No	gnomAD ClinGen
CA3990900 rs751739800	1162	I>V		No	ExAC gnomAD ClinGen
CA365601553 rs1269836879	1166	S>A		No	ClinGen gnomAD
rs967983277 CA147173245	1166	S>C		No	ClinGen TOPMed gnomAD
CA3990899 rs766465793	1167	Q>R		No	ClinGen ExAC gnomAD
CA3990896 rs144386522	1174	K>M		No	1000Genomes ESP ExAC TOPMed gnomAD ClinGen
CA3990895 rs762299146	1174	K>N		No	ClinGen ExAC gnomAD
rs144386522 CA147173222	1174	K>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA147173214 rs558972783	1175	D>G		No	gnomAD ClinGen
rs1393799344 CA365601428	1177	F>L		No	ClinGen gnomAD
rs900109837 CA147173207	1177	F>S		No	Ensembl ClinGen
rs112076638 CA147171594	1180	L>P		No	ClinGen gnomAD
TCGA novel	1182	S>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs764575325 CA365601328	1185	P>S		No	ClinGen ExAC gnomAD
rs764575325 CA3990876	1185	P>T		No	ExAC gnomAD ClinGen
CA365601321 rs376055065	1186	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA3990874 rs376055065	1186	R>Q		No	ESP ExAC TOPMed gnomAD ClinGen
rs1322706703 CA365601303	1189	A>G		No	ClinGen gnomAD
rs1222532615 CA365601276	1193	S>G		No	gnomAD ClinGen
CA365601268 rs1350646471	1194	I>V		No	gnomAD ClinGen
CA365601250 rs1397147770	1196	C>*		No	Ensembl ClinGen
rs1409933983 CA365601253	1196	C>Y		No	gnomAD ClinGen
CA3990872 rs748854407	1201	H>Y		No	ExAC TOPMed gnomAD ClinGen
rs1298447761 CA365601196	1204	N>T		No	ClinGen gnomAD
TCGA novel	1205	R>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1413853270 CA365601175	1207	M>V		No	gnomAD ClinGen
CA3990870 rs769306958	1208	D>N		No	ExAC gnomAD ClinGen
rs1398859729 CA365601149	1210	L>P		No	gnomAD ClinGen
CA365601133 rs1159952227	1213	D>Y		No	gnomAD ClinGen
rs1378019873 CA365601123	1214	R>K		No	ClinGen gnomAD
rs1372477208 CA365601099	1218	F>V		No	TOPMed ClinGen
CA365601091 TCGA novel rs1473621261	1219	L>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA gnomAD ClinGen
CA3990866 rs746799113	1222	I>T		No	ClinGen ExAC TOPMed gnomAD
CA3990867 rs754768985	1222	I>V		No	ExAC gnomAD ClinGen
rs755259082 CA147171479	1223	D>H		No	ClinGen Ensembl
CA3990865 rs780309494	1225	E>K		No	ClinGen ExAC gnomAD
rs758599531 CA3990864	1226	S>G		No	ClinGen ExAC gnomAD
rs1446884520 CA365601046	1226	S>N		No	ClinGen gnomAD
CA365601016 rs1228413926	1230	I>V		No	ClinGen gnomAD
rs750560191 CA3990863	1231	N>S		No	ClinGen ExAC gnomAD
rs778894405 CA3990862	1235	M>L		No	ClinGen ExAC gnomAD
rs1368891495 CA365600973	1236	D>G		No	ClinGen TOPMed
CA365600941 rs1428214348	1238	Y>*		No	gnomAD ClinGen
CA3990840 rs753214445	1240	Q>K		No	ClinGen ExAC gnomAD
rs1190965656 CA365600930	1240	Q>R		No	gnomAD ClinGen
TCGA novel	1241	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3990839 rs768014865	1245	I>V		No	ClinGen ExAC TOPMed gnomAD
rs750045161 CA3990837	1246	V>I		No	ClinGen ExAC gnomAD
CA365600894 rs750045161	1246	V>L		No	ExAC gnomAD ClinGen
CA365600871 rs1562369368	1249	Y>C		No	Ensembl ClinGen
TCGA novel	1250	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1256	K>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs541915496 CA147168069	1257	D>E		No	ClinGen 1000Genomes
rs775361374 CA3990831	1262	V>A		No	ExAC gnomAD ClinGen
TCGA novel	1270	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs745610670 CA3990829	1270	I>T		No	ClinGen ExAC gnomAD
CA3990827 rs373557186	1275	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs749378103 CA3990826	1276	V>A		No	ClinGen ExAC gnomAD
rs755526385 CA3990824	1277	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA3990802 rs187454402	1283	P>R		No	ClinGen 1000Genomes ExAC gnomAD
rs755484947 CA3990801	1284	Q>P		No	ExAC gnomAD ClinGen
TCGA novel	1285	Y>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	1286	W>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3990799 rs199704388	1288	E>D		No	1000Genomes ExAC TOPMed gnomAD ClinGen
rs1484510294 CA365599832	1288	E>K		No	gnomAD ClinGen
CA3990798 rs758644032	1291	M>V		No	ExAC gnomAD ClinGen
CA3990797 COSM22163 rs753506595	1293	R>Q	large_intestine skin [Cosmic]	No	ExAC gnomAD ClinGen cosmic curated
rs1247122795 CA365599747	1294	Y>C		No	TOPMed ClinGen
rs1355927881 CA365599714	1297	I>V		No	TOPMed ClinGen
CA3990795 rs755687508	1301	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1290334481 CA365599664	1302	M>I		No	ClinGen gnomAD
CA365599668 rs1583473485	1302	M>V		No	ClinGen Ensembl
TCGA novel	1305	S>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1335226778 COSM1496204 CA365599636 COSM1496203	1306	M>I	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1340120314 CA365599639	1306	M>T		No	gnomAD ClinGen
CA3990794 COSM1263488 rs752191853 COSM1263487	1306	M>V	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs546082322 CA3990793	1307	D>A		No	ExAC gnomAD ClinGen
CA3990790 rs550345209	1313	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA3990791 rs774105670	1313	R>W		No	ClinGen ExAC TOPMed gnomAD
rs773635255 CA3990787	1317	I>L		No	ClinGen ExAC gnomAD
CA365599557 rs1367568238	1318	C>R		No	gnomAD ClinGen
CA3990786 rs763776391	1319	N>S		No	ExAC TOPMed gnomAD ClinGen
rs564806342 CA147164195	1322	R>T		No	ClinGen 1000Genomes gnomAD
CA365599348 rs1171772863	1329	M>I		No	ClinGen gnomAD
CA3990768 rs762899461	1329	M>V		No	ExAC gnomAD ClinGen
CA3990767 rs750219826	1330	V>A		No	ClinGen ExAC gnomAD
CA3990765 rs762155610	1331	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
CA3990763 rs768796074	1337	G>A		No	ExAC TOPMed ClinGen
rs1421669318 CA365599200	1337	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	gnomAD ClinGen NCI-TCGA
CA3990762 rs760606085	1341	H>R		No	ClinGen ExAC gnomAD
rs1274310045 CA365599135	1341	H>Y		No	ClinGen gnomAD
CA365599099 rs1183878078	1342	R>*		No	ClinGen gnomAD
CA3990761 rs754669062	1342	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA147162516 rs746283964	1346	G>*		No	ClinGen ExAC TOPMed gnomAD
CA3990757 rs771248561	1346	G>A		No	ClinGen ExAC gnomAD
rs771248561 CA3990758	1346	G>E		No	ClinGen ExAC gnomAD
rs746283964 CA3990759	1346	G>R		No	ExAC TOPMed gnomAD ClinGen
rs967998403 CA147162477	1348	K>I		No	TOPMed gnomAD ClinGen
rs967998403 CA365599001	1348	K>R		No	TOPMed gnomAD ClinGen
CA3990755 rs780639444	1353	K>E		No	ClinGen ExAC gnomAD
CA365598812 rs1167657194	1356	L>F		No	gnomAD ClinGen
rs754580293 CA3990754	1361	W>*	Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA]	No	ExAC gnomAD ClinGen NCI-TCGA
rs751016158 CA3990753	1363	E>G		No	ExAC gnomAD ClinGen
CA3990752 rs780189309	1364	E>G		No	ExAC gnomAD ClinGen
rs1237020467 CA365598653	1364	E>K		No	ClinGen gnomAD
CA3990750 rs750344286	1365	C>S		No	ExAC ClinGen
rs765145160 CA3990749	1366	E>K		No	ExAC gnomAD ClinGen
rs761644619 CA3990748	1371	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA365598474 rs1344743013	1371	R>W		No	ClinGen gnomAD
CA365598461 rs1219126507	1372	T>A		No	ClinGen gnomAD
rs754096532 COSM1440322 CA3990747 COSM1440321	1372	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated NCI-TCGA
CA3990729 rs764430451	1380	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA147162110 rs1018096744	1380	G>S		No	ClinGen TOPMed
CA3990728 rs746247295	1381	G>R		No	ClinGen ExAC TOPMed gnomAD
CA3990725 rs759543702	1382	R>G		No	ExAC TOPMed gnomAD ClinGen
COSM1697906 COSM1697907 CA365598270 rs1239642954	1382	R>Q	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
CA365598221 rs1464878847	1385	M>I		No	ClinGen gnomAD
rs1207348742 CA365598228	1385	M>T		No	ClinGen gnomAD
CA365598150 rs1208845788	1389	I>T		No	gnomAD ClinGen
CA3990724 rs774902832	1389	I>V		No	ClinGen ExAC gnomAD
rs766854719 CA3990723	1391	I>V		No	ExAC TOPMed gnomAD ClinGen
CA3990722 rs779184617	1392	V>I		No	ExAC TOPMed gnomAD ClinGen
rs1413374816 CA365598103	1393	V>I		No	gnomAD ClinGen
CA365598067 rs1161496257	1395	M>V		No	ClinGen gnomAD
rs746662465 CA3990719	1397	K>Q		No	ClinGen ExAC gnomAD
CA3990717 rs771714409	1398	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs370374055 CA3990718	1398	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA3990715 rs779052722	1399	Q>R		No	ClinGen ExAC gnomAD
CA365597944 rs1412576677	1402	V>F		No	TOPMed ClinGen
TCGA novel	1402	V>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA3990713 rs774535346	1403	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1405	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1406208713 CA365597866	1407	A>T		No	ClinGen gnomAD
CA365597692 rs1562362767	1418	M>V		No	ClinGen Ensembl
CA3990709 rs767719211	1419	V>L		No	ClinGen ExAC TOPMed gnomAD
rs937106097 CA147161884	1420	E>G		No	ClinGen Ensembl
COSM1222657 COSM143669 CA3990707 rs751611291	1422	P>L	large_intestine skin [Cosmic]	No	ExAC TOPMed gnomAD ClinGen cosmic curated
TCGA novel	1423	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1270609978 COSM3777074 COSM3777073 CA365597366	1426	R>C	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	gnomAD ClinGen cosmic curated NCI-TCGA
rs1202657000 CA365597365	1426	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs1218315577 CA365597345	1429	Y>H		No	TOPMed ClinGen
rs201114977 CA3990693	1430	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA365597334 rs1482603051	1430	D>G		No	ClinGen gnomAD
CA3990692 rs769542308	1432	A>P		No	ClinGen ExAC gnomAD
rs747922514 CA3990691	1434	E>*		No	ExAC gnomAD ClinGen
CA365597283 rs1300626406	1437	E>G		No	gnomAD ClinGen
CA147160653 rs971347783	1438	S>P		No	ClinGen Ensembl
TCGA novel	1439	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

No associated diseases with Q15262

15 regional properties for Q15262

Type	Name	Position	InterPro Accession
domain	Tyrosine-specific protein phosphatase, PTPase domain	886 - 1143	IPR000242-1
domain	Tyrosine-specific protein phosphatase, PTPase domain	1172 - 1437	IPR000242-2
domain	Tyrosine-specific protein phosphatases domain	1061 - 1132	IPR000387-1
domain	Tyrosine-specific protein phosphatases domain	1349 - 1426	IPR000387-2
domain	MAM domain	31 - 194	IPR000998
domain	Protein-tyrosine phosphatase, catalytic	1039 - 1140	IPR003595-1
domain	Protein-tyrosine phosphatase, catalytic	1329 - 1434	IPR003595-2
domain	Immunoglobulin subtype	201 - 289	IPR003599
domain	Fibronectin type III	291 - 389	IPR003961-1
domain	Fibronectin type III	390 - 476	IPR003961-2
domain	Fibronectin type III	488 - 595	IPR003961-3
domain	Immunoglobulin-like domain	196 - 281	IPR007110
domain	Immunoglobulin I-set	201 - 278	IPR013098
active_site	Protein-tyrosine phosphatase, active site	1080 - 1090	IPR016130-1
active_site	Protein-tyrosine phosphatase, active site	1374 - 1384	IPR016130-2

Functions

		Description
EC Number	3.1.3.48	Phosphoric monoester hydrolases
Subcellular Localization	Cell junction, adherens junction Cell membrane; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
adherens junction	A cell-cell junction composed of the epithelial cadherin-catenin complex. The epithelial cadherins, or E-cadherins, of each interacting cell extend through the plasma membrane into the extracellular space and bind to each other. The E-cadherins bind to catenins on the cytoplasmic side of the membrane, where the E-cadherin-catenin complex binds to cytoskeletal components and regulatory and signaling molecules.
cell junction	A cellular component that forms a specialized region of connection between two or more cells, or between a cell and the extracellular matrix, or between two membrane-bound components of a cell, such as flagella.
cell surface	The external part of the cell wall and/or plasma membrane.
cell-cell junction	A cell junction that forms a connection between two or more cells of an organism; excludes direct cytoplasmic intercellular bridges, such as ring canals in insects.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
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.
intracellular membrane-bounded organelle	Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
leading edge membrane	The portion of the plasma membrane surrounding the leading edge of a motile cell.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

5 GO annotations of molecular function

Name	Definition
beta-catenin binding	Binding to a catenin beta subunit.
gamma-catenin binding	Binding to catenin complex gamma subunit.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein tyrosine phosphatase activity	Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.
transmembrane receptor protein tyrosine phosphatase activity	Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate.

14 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.
cell migration	The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms.
cellular response to reactive oxygen species	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a reactive oxygen species stimulus. Reactive oxygen species include singlet oxygen, superoxide, and oxygen free radicals.
cellular response to UV	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an ultraviolet radiation (UV light) stimulus. Ultraviolet radiation is electromagnetic radiation with a wavelength in the range of 10 to 380 nanometers.
focal adhesion assembly	The aggregation and bonding together of a set of components to form a focal adhesion, a complex of intracellular signaling and structural proteins that provides a structural link between the internal actin cytoskeleton and the ECM, and also function as a locus of signal transduction activity.
negative regulation of cell cycle	Any process that stops, prevents or reduces the rate or extent of progression through the cell cycle.
negative regulation of cell migration	Any process that stops, prevents, or reduces the frequency, rate or extent of cell migration.
negative regulation of cell population proliferation	Any process that stops, prevents or reduces the rate or extent of cell proliferation.
negative regulation of DNA-templated transcription	Any process that stops, prevents, or reduces the frequency, rate or extent of cellular DNA-templated transcription.
negative regulation of keratinocyte proliferation	Any process that decreases the rate, frequency or extent of keratinocyte proliferation. Keratinocyte proliferation is the multiplication or reproduction of keratinocytes, resulting in the expansion of a cell population.
protein dephosphorylation	The process of removing one or more phosphoric residues from a protein.
protein localization to cell surface	A process in which a protein is transported to, or maintained in, a location within the external part of the cell wall and/or plasma membrane.
signal transduction	The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell.
transforming growth factor beta receptor signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a transforming growth factor beta receptor on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription.

9 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P08575	PTPRC	Receptor-type tyrosine-protein phosphatase C	Homo sapiens (Human)	PR
P28827	PTPRM	Receptor-type tyrosine-protein phosphatase mu	Homo sapiens (Human)	PR
P10586	PTPRF	Receptor-type tyrosine-protein phosphatase F	Homo sapiens (Human)	PR
P23468	PTPRD	Receptor-type tyrosine-protein phosphatase delta	Homo sapiens (Human)	PR
Q13332	PTPRS	Receptor-type tyrosine-protein phosphatase S	Homo sapiens (Human)	PR
P43378	PTPN9	Tyrosine-protein phosphatase non-receptor type 9	Homo sapiens (Human)	PR
P49446	Ptpre	Receptor-type tyrosine-protein phosphatase epsilon	Mus musculus (Mouse)	PR
Q64487	Ptprd	Receptor-type tyrosine-protein phosphatase delta	Mus musculus (Mouse)	PR
P35822	Ptprk	Receptor-type tyrosine-protein phosphatase kappa	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MDTTAAAALP	AFVALLLLSP	WPLLGSAQGQ	FSAGGCTFDD	GPGACDYHQD	LYDDFEWVHV
70	80	90	100	110	120
SAQEPHYLPP	EMPQGSYMIV	DSSDHDPGEK	ARLQLPTMKE	NDTHCIDFSY	LLYSQKGLNP
130	140	150	160	170	180
GTLNILVRVN	KGPLANPIWN	VTGFTGRDWL	RAELAVSTFW	PNEYQVIFEA	EVSGGRSGYI
190	200	210	220	230	240
AIDDIQVLSY	PCDKSPHFLR	LGDVEVNAGQ	NATFQCIATG	RDAVHNKLWL	QRRNGEDIPV
250	260	270	280	290	300
AQTKNINHRR	FAASFRLQEV	TKTDQDLYRC	VTQSERGSGV	SNFAQLIVRE	PPRPIAPPQL
310	320	330	340	350	360
LGVGPTYLLI	QLNANSIIGD	GPIILKEVEY	RMTSGSWTET	HAVNAPTYKL	WHLDPDTEYE
370	380	390	400	410	420
IRVLLTRPGE	GGTGLPGPPL	ITRTKCAEPM	RTPKTLKIAE	IQARRIAVDW	ESLGYNITRC
430	440	450	460	470	480
HTFNVTICYH	YFRGHNESKA	DCLDMDPKAP	QHVVNHLPPY	TNVSLKMILT	NPEGRKESEE
490	500	510	520	530	540
TIIQTDEDVP	GPVPVKSLQG	TSFENKIFLN	WKEPLDPNGI	ITQYEISYSS	IRSFDPAVPV
550	560	570	580	590	600
AGPPQTVSNL	WNSTHHVFMH	LHPGTTYQFF	IRASTVKGFG	PATAINVTTN	ISAPTLPDYE
610	620	630	640	650	660
GVDASLNETA	TTITVLLRPA	QAKGAPISAY	QIVVEELHPH	RTKREAGAME	CYQVPVTYQN
670	680	690	700	710	720
AMSGGAPYYF	AAELPPGNLP	EPAPFTVGDN	RTYQGFWNPP	LAPRKGYNIY	FQAMSSVEKE
730	740	750	760	770	780
TKTQCVRIAT	KAATEEPEVI	PDPAKQTDRV	VKIAGISAGI	LVFILLLLVV	ILIVKKSKLA
790	800	810	820	830	840
KKRKDAMGNT	RQEMTHMVNA	MDRSYADQST	LHAEDPLSIT	FMDQHNFSPR	YENHSATAES
850	860	870	880	890	900
SRLLDVPRYL	CEGTESPYQT	GQLHPAIRVA	DLLQHINLMK	TSDSYGFKEE	YESFFEGQSA
910	920	930	940	950	960
SWDVAKKDQN	RAKNRYGNII	AYDHSRVILQ	PVEDDPSSDY	INANYIDGYQ	RPSHYIATQG
970	980	990	1000	1010	1020
PVHETVYDFW	RMIWQEQSAC	IVMVTNLVEV	GRVKCYKYWP	DDTEVYGDFK	VTCVEMEPLA
1030	1040	1050	1060	1070	1080
EYVVRTFTLE	RRGYNEIREV	KQFHFTGWPD	HGVPYHATGL	LSFIRRVKLS	NPPSAGPIVV
1090	1100	1110	1120	1130	1140
HCSAGAGRTG	CYIVIDIMLD	MAEREGVVDI	YNCVKALRSR	RINMVQTEEQ	YIFIHDAILE
1150	1160	1170	1180	1190	1200
ACLCGETAIP	VCEFKAAYFD	MIRIDSQTNS	SHLKDEFQTL	NSVTPRLQAE	DCSIACLPRN
1210	1220	1230	1240	1250	1260
HDKNRFMDML	PPDRCLPFLI	TIDGESSNYI	NAALMDSYRQ	PAAFIVTQYP	LPNTVKDFWR
1270	1280	1290	1300	1310	1320
LVYDYGCTSI	VMLNEVDLSQ	GCPQYWPEEG	MLRYGPIQVE	CMSCSMDCDV	INRIFRICNL
1330	1340	1350	1360	1370	1380
TRPQEGYLMV	QQFQYLGWAS	HREVPGSKRS	FLKLILQVEK	WQEECEEGEG	RTIIHCLNGG
1390	1400	1410	1420	1430
GRSGMFCAIG	IVVEMVKRQN	VVDVFHAVKT	LRNSKPNMVE	APEQYRFCYD	VALEYLESS