AiPD: Autoinhibited Protein Database

Q07912

Gene name	TNK2 (ACK1)
Protein name	Activated CDC42 kinase 1
Names	Endothelial tyrosine kinase, HYK, STK1, Tunica interna endothelial cell kinase, Tyrosine kinase with Ig and EGF homology domains-2, Tyrosine-protein kinase receptor TEK, Tyrosine-protein kinase receptor TIE-2, mTIE2, p140 TEK, Endothelial tyrosine kinase, Tunica interna endothelial cell kinase, Tyrosine kinase with Ig and EGF homology domains-2, Tyrosine-protein kinase receptor TEK, Tyrosine-protein kinase receptor TIE-2, hTIE2, p140 TEK, ACK-1, Tyrosine kinase non-receptor protein 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:10188
EC number	2.7.10.2: Protein-tyrosine kinases
Protein Class	GENE 33 POLYPEPTIDE (PTHR14254)

Descriptions

Ack1 belongs to a family of nonreceptor tyrosine kinases. Ack1 is a 120-kDa protein with an N-terminal sterile α-motif (SAM) domain, a kinase domain, an SH3 domain, and a Cdc42-binding domain (CRIB). The large C-terminal portion of Ack1 contains several proline-rich sequences as well as a clathrin-binding motif, a ubiquitin-binding domain, and a region homologous to Mig6. The C-terminal Mig6 homology region (803-880) participates in inhibitory intramolecular interactions with the kinase domain.
The addition of Cdc42 (ligand for CRIB domain) or poly-proline peptides (ligands for SH3 domain) did not activate the purified construct of Ack1 in vitro. However, in cells expressing full-length Ack1, the co-expression of Cdc42 did activate Ack1

Autoinhibitory domains (AIDs)

Target domain	126-385 (Protein kinase domain)
Relief mechanism	Partner binding
Assay	Split protein assay, Mutagenesis experiment

AID

803-880 (Mig6 homology region)

Target domain

126-385 (Protein kinase domain)

Relief mechanism

Partner binding (Proteins binding to CRIB domain or SH3 domain)

Assay

Split protein assay, Mutagenesis experiment

Accessory elements

269-295 (Activation loop from InterPro)

Target domain	126-385 (Protein kinase domain)
Relief mechanism
Assay

References

Prieto-Echagüe V et al. (2010) "Cancer-associated mutations activate the nonreceptor tyrosine kinase Ack1", The Journal of biological chemistry, 285, 10605-15

Autoinhibited structure

Activated structure

18 structures for Q07912

Entry ID	Method	Resolution	Chain	Position	Source
1CF4	NMR	-	B	448-489	PDB
1U46	X-ray	200 A	A/B	109-395	PDB
1U4D	X-ray	210 A	A/B	109-395	PDB
1U54	X-ray	280 A	A/B	109-395	PDB
3EQP	X-ray	230 A	A/B	117-392	PDB
3EQR	X-ray	200 A	A/B	117-392	PDB
4EWH	X-ray	250 A	A/B	117-391	PDB
4HZR	X-ray	131 A	A/B	115-389	PDB
4HZS	X-ray	323 A	A/B/C/D	115-453	PDB
4ID7	X-ray	300 A	A	117-389	PDB
5ZXB	X-ray	220 A	A/B	117-391	PDB
6VQM	X-ray	287 A	A/B	109-395	PDB
7KP6	X-ray	179 A	A/B	110-391	PDB
8FE9	X-ray	320 A	A	110-391	PDB
8FZ3	X-ray	278 A	A/B/C/D	958-1038	PDB
8HMT	X-ray	317 A	A/B/C/D	117-389	PDB
8THA	X-ray	168 A	A	954-1038	PDB
AF-Q07912-F1	Predicted				AlphaFoldDB

1125 variants for Q07912

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs370013968 RCV000210445 CA357979	363	V>A	Parkinson disease [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000074437 RCV001258313 rs201407161 CA145365 VAR_076966 RCV000210440	638	V>M	Autosomal recessive infantile epilepsy Parkinson disease found in patients with childhood-onset epilepsy; unknown pathological significance; loss of interaction with NEDD4 and NEDD4L; increased protein abundance [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002057058 RCV000254280 rs112384084 RCV000210436 CA357967	877	R>H	Parkinson disease [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs571171423 CA357977 RCV000210443	977	A>V	Parkinson disease [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA355585192 rs1367479411	7	T>I		No	ClinGen gnomAD
rs1361175510 CA355585175	10	L>V		No	ClinGen gnomAD
rs1418084604 CA355585169	11	L>Q		No	ClinGen gnomAD
CA2777040 rs752513390	12	E>K		No	ClinGen ExAC gnomAD
rs1577091595 CA355585158	13	L>V		No	ClinGen Ensembl
rs1189343310 CA355585139	16	E>D		No	ClinGen gnomAD
rs774359188 CA2777037	16	E>K		No	ClinGen ExAC gnomAD
CA2777038 rs774359188	16	E>Q		No	ClinGen ExAC gnomAD
CA355585118 rs1478517535	20	Q>*		No	ClinGen gnomAD
rs771045180 RCV000488358 CA2777036	21	Q>H		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1404957310 CA355585105	21	Q>L		No	ClinGen Ensembl
CA355585100 rs1577091519	22	Y>S		No	ClinGen Ensembl
CA355585072 rs1196890974	24	L>P		No	ClinGen gnomAD
CA355585061 COSM1163338 rs1190516213 COSM1163339 COSM1163340	25	R>Q	pancreas [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2777033 rs370977320	25	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs377681378 CA2777032	27	R>*		No	ClinGen ESP ExAC gnomAD
rs776967843 CA2777031	27	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs924732805 CA90775215	29	D>A		No	ClinGen Ensembl
rs1431155849 CA355585010	29	D>N		No	ClinGen TOPMed
CA355584988 rs1171666373	30	L>P		No	ClinGen TOPMed
CA355584990 rs1300885861	30	L>V		No	ClinGen Ensembl
CA2777028 rs756816319	31	N>I		No	ClinGen ExAC gnomAD
COSM211523 rs756816319 COSM211524 CA2777027	31	N>S	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1398430273 CA355584955	32	V>D		No	ClinGen gnomAD
COSM1582575 COSM1582574 COSM1582576 CA2777025 rs556284618	32	V>I	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA355584938 rs1466375877	33	T>I		No	ClinGen gnomAD
rs756101437 CA2777024	33	T>P		No	ClinGen ExAC gnomAD
COSM294900 CA2777023 COSM294901 rs752593361	34	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2777022 rs767411309	34	R>H		No	ClinGen ExAC gnomAD
CA355584901 rs1335952597	36	S>Y		No	ClinGen TOPMed
rs1226097360 CA355584884	37	H>R		No	ClinGen gnomAD
CA2777019 rs766460416	41	V>I		No	ClinGen ExAC
rs773134248 CA2777017	43	N>S		No	ClinGen ExAC gnomAD
rs867181324 CA90775191	47	E>D		No	ClinGen TOPMed
rs1182022846 CA355584729	47	E>G		No	ClinGen gnomAD
CA90775189 rs369268499	49	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2777015 rs202061093	50	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs142416449 CA2777014	53	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs747290169 COSM1229928 CA2777012 COSM1229930 COSM1229929	53	R>Q	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2777013 rs142416449	53	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2776970 rs764715519	57	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs753886512 CA2776971	57	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2776969 rs571703490	58	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA355583952 rs1463460348	60	W>G		No	ClinGen TOPMed
rs753168690 CA2776968	61	E>K		No	ClinGen ExAC gnomAD
rs1192414943 CA355583934	62	A>S		No	ClinGen TOPMed
rs1192414943 CA355583936	62	A>T		No	ClinGen TOPMed
CA2776966 rs759919084	63	V>L		No	ClinGen ExAC gnomAD
rs1385750629 CA355583915	65	R>K		No	ClinGen TOPMed gnomAD
CA355583913 rs1385750629	65	R>M		No	ClinGen TOPMed gnomAD
CA2776965 rs773017523	66	R>S		No	ClinGen ExAC TOPMed gnomAD
CA90771234 rs886348574	68	A>T		No	ClinGen TOPMed
rs761446812 CA2776963	69	L>S		No	ClinGen ExAC gnomAD
rs56036945 VAR_032793 CA2776961	71	K>R		No	ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD
CA2776960 rs746926125	72	R>C		No	ClinGen ExAC gnomAD
CA2776959 rs779984663	72	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779984663 CA355583868	72	R>L		No	ClinGen ExAC TOPMed gnomAD
CA355583867 rs779984663	72	R>P		No	ClinGen ExAC TOPMed gnomAD
CA90771181 rs199747325	73	K>E		No	ClinGen Ensembl
CA2776956 rs199747325	73	K>Q		No	ClinGen Ensembl
rs745624130 CA2776954	74	S>L		No	ClinGen ExAC gnomAD
CA2776955 rs771787058	74	S>T		No	ClinGen ExAC gnomAD
CA90771178 rs745340302	78	K>E		No	ClinGen Ensembl
CA355583358 rs1290585194	79	V>L		No	ClinGen gnomAD
CA355583360 rs1290585194	79	V>M		No	ClinGen gnomAD
rs1219794555 CA355583331	80	F>L		No	ClinGen gnomAD
CA355583306 rs1464508086	82	G>R		No	ClinGen TOPMed
COSM35791 CA90769423 COSM1559646 rs199821504 COSM1559645	84	R>*	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA2776907 rs199821504	84	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA2776906 rs770023580	84	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs748223973 CA2776905	87	A>P		No	ClinGen ExAC gnomAD
CA355583228 rs1560522196	87	A>V		No	ClinGen Ensembl
rs1371845894 CA355583207	89	F>L		No	ClinGen gnomAD
rs1277067293 CA355583200	89	F>S		No	ClinGen gnomAD
CA2776904 rs781407295	90	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA355583186 rs781407295	90	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1296647183 CA355583190	90	P>S		No	ClinGen TOPMed
rs145550791 CA90769387	91	P>L		No	ClinGen ESP gnomAD
CA355583158 rs1400733406	92	H>Y		No	ClinGen TOPMed
rs1577076642 CA355583133	93	H>P		No	ClinGen Ensembl
CA355583094 rs1435944497	95	Q>R		No	ClinGen gnomAD
CA2776903 rs755608591	96	S>R		No	ClinGen ExAC gnomAD
rs1362272730 CA355583056	97	T>I		No	ClinGen gnomAD
CA355583064 rs1577076601	97	T>P		No	ClinGen Ensembl
rs1399848420 CA355583037	98	F>L		No	ClinGen TOPMed gnomAD
rs1399848420 CA355583039	98	F>L		No	ClinGen TOPMed gnomAD
COSM20645 rs113498671 CA2776901 VAR_032794	99	R>Q	ovary an ovarian mucinous carcinoma sample; somatic mutation; increased autophosphorylation at Y-284; increased function in phosphorylation of peptide substrates and WASP; no effect on subcellular localization to perinuclear region [Cosmic, UniProt]	No	ClinGen cosmic curated UniProt ExAC TOPMed dbSNP gnomAD
COSM1566484 rs3747673 COSM1566485 COSM1566483 RCV000878597 CA2776902 VAR_032795	99	R>W	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA355583021 rs1212557763	100	K>*		No	ClinGen TOPMed
CA355583011 rs1478109074	100	K>R		No	ClinGen gnomAD
CA355582990 rs1560521879	101	T>I		No	ClinGen Ensembl
rs144814844 CA2776900	102	S>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2776898 rs777342470	103	P>L		No	ClinGen ExAC gnomAD
CA355582949 rs767024079	104	A>G		No	ClinGen ExAC TOPMed gnomAD
CA2776896 rs752219628	104	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2776895 rs767024079	104	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1377985065 CA355582933	105	P>L		No	ClinGen TOPMed
CA355582939 rs1315439692	105	P>S		No	ClinGen gnomAD
CA355582930 rs1281350727	106	G>R		No	ClinGen gnomAD
rs1467436853 CA355582913	107	G>D		No	ClinGen TOPMed
CA355582906 rs1360090092	108	P>Q		No	ClinGen TOPMed
rs1281427642 CA355582908	108	P>S		No	ClinGen gnomAD
COSM3695991 CA2776893 COSM3695992 rs763489801 COSM3695990	109	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2776892 rs751516579	110	G>R		No	ClinGen ExAC gnomAD
rs766261410 CA2776891	110	G>V		No	ClinGen ExAC TOPMed gnomAD
CA355582853 rs1414952056	113	P>L		No	ClinGen TOPMed gnomAD
CA355582850 rs1428041483	114	L>M		No	ClinGen gnomAD
CA2776888 rs769966957	115	Q>E		No	ClinGen ExAC gnomAD
rs1333164994 CA355582817	115	Q>H		No	ClinGen TOPMed
CA2776887 rs762088785	116	S>G		No	ClinGen ExAC gnomAD
CA2776886 rs776926100	116	S>I		No	ClinGen ExAC gnomAD
CA2776884 rs747047174	118	T>P		No	ClinGen ExAC gnomAD
rs776174518 CA2776883	118	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2776881 rs746278409	121	I>T		No	ClinGen ExAC TOPMed gnomAD
CA90769323 rs1039593880	121	I>V		No	ClinGen gnomAD
rs55647828 CA2776880	122	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757500864 CA2776879	123	E>A		No	ClinGen ExAC TOPMed gnomAD
rs368727352 CA2776877	127	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355582619 rs1359669661	127	R>H		No	ClinGen TOPMed gnomAD
CA2776876 rs754511166	128	L>F		No	ClinGen ExAC gnomAD
rs1049098421 CA90769307	131	K>R		No	ClinGen TOPMed
rs1405296215 CA549007272	133	G>*		No	ClinGen gnomAD
CA355582547 rs1433188046	133	G>V		No	ClinGen gnomAD
CA2776875 rs774370696	135	G>S		No	ClinGen ExAC
CA355582533 rs1338908388	135	G>V		No	ClinGen gnomAD
CA2776871 rs762933162	139	V>M		No	ClinGen ExAC gnomAD
CA2776869 rs765083803	140	V>A		No	ClinGen ExAC gnomAD
CA2776867 rs777025989	141	R>C		No	ClinGen ExAC TOPMed gnomAD
rs768970594 CA2776866	141	R>H		No	ClinGen ExAC TOPMed gnomAD
rs768970594 CA355582499	141	R>L		No	ClinGen ExAC TOPMed gnomAD
CA355582500 rs768970594	141	R>P		No	ClinGen ExAC TOPMed gnomAD
CA355582497 rs1201070236	142	R>G		No	ClinGen gnomAD
CA2776864 rs200819943	144	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1393460104 CA355582472	145	W>C		No	ClinGen TOPMed
CA2776863 rs772523917	146	D>A		No	ClinGen ExAC gnomAD
COSM1229922 COSM1229923 CA2776861 rs138590895 COSM1229924	147	A>T	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2776860 rs771344043	147	A>V		No	ClinGen ExAC TOPMed gnomAD
CA90769249 rs370229258	150	G>E		No	ClinGen ESP TOPMed gnomAD
rs56161912 VAR_032796 CA2776856	152	T>M		No	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs757947685 CA2776837	153	V>A		No	ClinGen ExAC gnomAD
CA355582028 rs1577070266	155	V>G		No	ClinGen Ensembl
CA2776836 rs745338899	155	V>M		No	ClinGen ExAC gnomAD
CA355582023 rs1283331208	156	A>T		No	ClinGen gnomAD
CA90768483 rs1054632832	156	A>V		No	ClinGen TOPMed gnomAD
CA2776835 rs778957990	157	V>G		No	ClinGen ExAC
CA355582010 rs1343277055	157	V>L		No	ClinGen TOPMed gnomAD
rs1299587433 CA355581975	159	C>G		No	ClinGen gnomAD
rs1299587433 CA355581977	159	C>R		No	ClinGen gnomAD
rs954474352 CA90768462	162	P>S		No	ClinGen TOPMed gnomAD
CA90768466 rs954474352	162	P>T		No	ClinGen TOPMed gnomAD
CA90768450 rs370771145	163	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2776833 rs753750642	163	D>N		No	ClinGen ExAC TOPMed gnomAD
rs755912029 CA2776831	165	L>V		No	ClinGen ExAC gnomAD
CA355581873 rs1430123336	166	S>G		No	ClinGen gnomAD
rs752982509 CA2776830	166	S>R		No	ClinGen ExAC gnomAD
rs767598413 CA2776829	169	E>*		No	ClinGen ExAC gnomAD
rs1265629903 CA355581812	169	E>D		No	ClinGen TOPMed gnomAD
CA355581804 rs1194573822	170	A>V		No	ClinGen gnomAD
rs1455755949 CA355581788	171	M>T		No	ClinGen TOPMed
rs759706081 CA2776828	171	M>V		No	ClinGen ExAC gnomAD
rs1156927783 CA355581770	172	D>A		No	ClinGen TOPMed
rs55636345 CA2776827	172	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs766970227 CA2776826	173	D>N		No	ClinGen ExAC gnomAD
CA355581702 rs1442148085	175	I>M		No	ClinGen TOPMed gnomAD
COSM379332 CA2776824 rs773644614 COSM379333	176	R>Q	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs184412835 CA2776825	176	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355581652 rs1320709774	179	N>Y		No	ClinGen gnomAD
rs748462985 CA2776822	181	M>T		No	ClinGen ExAC gnomAD
rs1577069817 CA355581627	182	H>P		No	ClinGen Ensembl
CA2776821 rs775248747	182	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs377632238 CA90768396	183	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377632238 CA2776819	183	S>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1577069719 CA355581585	185	D>A		No	ClinGen Ensembl
CA2776817 rs770496107	185	D>N		No	ClinGen ExAC gnomAD
rs770496107 CA355581591	185	D>Y		No	ClinGen ExAC gnomAD
CA355581571 rs1577069689	186	H>P		No	ClinGen Ensembl
CA2776815 rs777800759	187	R>*		No	ClinGen ExAC gnomAD
rs756000040 CA2776814	187	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs374213988 CA2776813	188	N>K		No	ClinGen ESP ExAC gnomAD
rs994688493 CA90768376	188	N>S		No	ClinGen TOPMed
rs994688493 CA355581537	188	N>T		No	ClinGen TOPMed
rs1475943349 CA355581524	189	L>F		No	ClinGen gnomAD
rs755144718 CA2776812	191	R>C		No	ClinGen ExAC TOPMed gnomAD
rs755144718 CA2776811	191	R>G		No	ClinGen ExAC TOPMed gnomAD
rs751730320 CA2776810	191	R>H		No	ClinGen ExAC TOPMed
rs751730320 CA355581485	191	R>P		No	ClinGen ExAC TOPMed
CA355581471 rs1190784644	192	L>P		No	ClinGen gnomAD
rs1416261693 CA355581474	192	L>V		No	ClinGen TOPMed
CA2776808 rs766453551	193	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs750951757 CA2776806	194	G>E		No	ClinGen ExAC gnomAD
CA2776805 rs765694038	195	V>M		No	ClinGen ExAC gnomAD
CA90768361 rs780118233	196	V>G		No	ClinGen Ensembl
rs1017432613 CA90768363	196	V>M		No	ClinGen TOPMed gnomAD
rs1459113556 CA355581401	197	L>F		No	ClinGen TOPMed
CA2776804 rs762213900	198	T>M		No	ClinGen ExAC TOPMed gnomAD
rs759113376 CA2776801	199	P>L		No	ClinGen ExAC TOPMed gnomAD
rs771822142 CA2776802	199	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1010614296 CA90768341	202	K>N		No	ClinGen TOPMed
rs550978754 CA355581117	206	E>K		No	ClinGen 1000Genomes ExAC gnomAD
rs550978754 CA2776752	206	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA355581103 rs1213777596	207	L>M		No	ClinGen gnomAD
rs372035229 CA2776751	210	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2776750 rs779055442	211	G>E		No	ClinGen ExAC gnomAD
rs757310380 CA355581041	212	S>*		No	ClinGen ExAC TOPMed gnomAD
COSM1685943 rs757310380 COSM1685941 CA2776749 COSM1685942	212	S>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756635191 CA2776746	214	L>S		No	ClinGen ExAC gnomAD
CA2776745 rs143587665	215	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA2776742 rs199724610	216	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755339346 CA2776744	216	R>W		No	ClinGen ExAC gnomAD
rs776183972 CA2776740	218	R>C		No	ClinGen ExAC gnomAD
CA2776738 rs764003397	218	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355580962 rs764003397	218	R>P		No	ClinGen ExAC TOPMed gnomAD
rs776183972 CA2776739	218	R>S		No	ClinGen ExAC gnomAD
rs1202675063 CA355580906	222	G>S		No	ClinGen gnomAD
CA2776736 rs775346909	223	H>L		No	ClinGen ExAC TOPMed gnomAD
CA355580880 rs1246390924	224	F>I		No	ClinGen gnomAD
rs1483217741 CA355580845	226	L>P		No	ClinGen TOPMed
CA2776734 rs759284337	229	L>R		No	ClinGen ExAC gnomAD
CA90767805 rs565283012	231	R>C		No	ClinGen 1000Genomes TOPMed gnomAD
rs540529215 CA2776733	231	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs749390120 CA2776731	233	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1429784562 CA355580793	234	V>M		No	ClinGen TOPMed
CA2776729 rs769698485	237	A>V		No	ClinGen ExAC gnomAD
CA2776728 rs748682309	238	E>K		No	ClinGen ExAC gnomAD
rs781746773 CA2776727	242	Y>C		No	ClinGen ExAC gnomAD
CA2776726 rs375858242	243	L>P		No	ClinGen ESP ExAC gnomAD
rs751941326 CA2776725	245	S>F		No	ClinGen ExAC gnomAD
CA2776723 rs756928677	247	R>C		No	ClinGen ExAC TOPMed gnomAD
rs148932803 CA2776722	247	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA355580710 rs756928677	247	R>S		No	ClinGen ExAC TOPMed gnomAD
rs763672113 CA2776721	251	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2776720 rs760128364	251	R>H		No	ClinGen ExAC gnomAD
rs1443565757 CA355580664	254	A>G		No	ClinGen gnomAD
CA2776719 rs752659975	254	A>T		No	ClinGen ExAC
CA210222 RCV000201409 rs767408627	256	R>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs867699975 CA90767764	256	R>H		No	ClinGen TOPMed
rs759371915 CA2776718	257	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1241084314 CA355580636	259	L>P		No	ClinGen gnomAD
rs774178896 CA2776717	260	L>V		No	ClinGen ExAC gnomAD
CA2776716 rs763245790	261	A>G		No	ClinGen ExAC gnomAD
CA2776715 rs763245790	261	A>V		No	ClinGen ExAC gnomAD
rs748200070 CA2776712	263	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2776711 rs781775119	263	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355580618 rs748200070	263	R>S		No	ClinGen ExAC TOPMed gnomAD
COSM1421960 CA355580613 COSM1421958 COSM1421959 rs1434082281	264	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs747392056 CA2776708	265	L>P		No	ClinGen ExAC gnomAD
CA355580592 rs1395578524	267	K>R		No	ClinGen gnomAD
CA2776705 rs753548814	269	G>R		No	ClinGen ExAC gnomAD
rs752177519 CA2776702	275	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2776701 COSM1042984 COSM1154126 rs767496703	275	R>Q	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs759468401 CA2776700	276	A>P		No	ClinGen ExAC gnomAD
CA90767714 rs759468401	276	A>T		No	ClinGen ExAC gnomAD
rs1186147763 CA355580506	281	D>N		No	ClinGen TOPMed gnomAD
CA90767710 rs1051905867	282	D>E		No	ClinGen TOPMed
CA355580482 rs1283591444	284	Y>H		No	ClinGen gnomAD
CA2776695 rs765527874	285	V>I		No	ClinGen ExAC TOPMed
CA90767706 rs771739935	286	M>L		No	ClinGen gnomAD
rs1298225833 CA355580467	286	M>T		No	ClinGen gnomAD
rs1383078167 CA355580444	289	H>Y		No	ClinGen gnomAD
rs762033031 CA2776694	290	R>C		No	ClinGen ExAC gnomAD
rs776838071 CA2776693	290	R>H		No	ClinGen ExAC gnomAD
CA2776691 rs747564793	295	A>T		No	ClinGen ExAC gnomAD
CA2776669 rs774690219	298	A>V		No	ClinGen ExAC TOPMed gnomAD
COSM1421949 CA2776667 COSM1421950 rs747816316 COSM1421951	300	E>K	large_intestine haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA90766306 rs371973887	303	K>R		No	ClinGen ESP TOPMed
CA2776666 rs780777204	305	R>C		No	ClinGen ExAC TOPMed gnomAD
CA355579257 rs780777204	305	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2776664 rs746472227	306	T>A		No	ClinGen ExAC gnomAD
rs1445994216 CA355579240	306	T>I		No	ClinGen gnomAD
CA2776661 rs750311507	309	H>Y		No	ClinGen ExAC gnomAD
rs765137093 CA2776660	311	S>G		No	ClinGen ExAC gnomAD
rs1560507441 CA355579159	312	D>N		No	ClinGen Ensembl
rs764378910 CA2776657	314	W>*		No	ClinGen ExAC gnomAD
rs1162587603 CA355579091	316	F>Y		No	ClinGen gnomAD
CA2776655 rs752703999	317	G>R		No	ClinGen ExAC TOPMed gnomAD
CA355579068 rs1259251188	318	V>L		No	ClinGen TOPMed
CA2776652 rs759962175	325	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2776651 rs774784617	326	Y>C		No	ClinGen ExAC gnomAD
CA2776649 rs200104049	327	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355578929 rs1338808066	328	Q>L		No	ClinGen TOPMed
CA90766263 rs145559327	329	E>D		No	ClinGen ESP TOPMed gnomAD
rs1430068939 CA355578921	329	E>K		No	ClinGen TOPMed
rs1002165884 CA90766261	330	P>R		No	ClinGen Ensembl
CA355578883 rs1341590742	331	W>C		No	ClinGen TOPMed
rs965317967 CA90766259	332	I>S		No	ClinGen TOPMed
CA2776647 rs768172893	333	G>S		No	ClinGen ExAC gnomAD
CA355578857 rs55701110	335	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1322872022 CA355578859	335	N>S		No	ClinGen gnomAD
CA355578852 rs1168117363	336	G>D		No	ClinGen Ensembl
rs1410021195 CA355578855	336	G>S		No	ClinGen TOPMed gnomAD
CA2776619 rs200412744	342	K>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs752888000 CA2776618	342	K>R		No	ClinGen ExAC gnomAD
CA2776617 rs781438547	343	I>V		No	ClinGen ExAC gnomAD
rs1221920695 CA355578628	344	D>N		No	ClinGen TOPMed
rs373491945 CA355578604	345	K>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs373491945 CA355578608	345	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs373491945 CA2776615	345	K>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs369579729 CA90765892	345	K>R		No	ClinGen ESP TOPMed gnomAD
rs151330438 CA90765885	346	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs151330438 CA2776613	346	E>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs970946035 COSM20647 CA90765886 VAR_032797	346	E>K	an ovarian endometrioid cancer sample; somatic mutation; undergoes autoactivation and causes phosphorylation on Y-284 leading to activation of AKT1; increased autophosphorylation at Y-284; increased function in phosphorylation of peptide substrates and WASP; no effect on catalytic activity itself as the purified kinase domain has activity in vitro comparable to wild-type protein; no effect on subcellular localization to perinuclear region ovary [UniProt, Cosmic]	No	ClinGen cosmic curated UniProt TOPMed dbSNP
rs750876936 CA355578555	347	G>R		No	ClinGen ExAC gnomAD
CA2776612 rs750876936	347	G>W		No	ClinGen ExAC gnomAD
CA2776609 rs775043034 COSM241971 COSM241970	349	R>Q	prostate [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA2776610 rs762196782	349	R>W		No	ClinGen ExAC TOPMed gnomAD
rs767176473 CA2776608	350	L>P		No	ClinGen ExAC gnomAD
CA2776607 rs759173529	351	P>A		No	ClinGen ExAC TOPMed gnomAD
CA90765869 rs759173529	351	P>S		No	ClinGen ExAC TOPMed gnomAD
CA355578476 rs759173529	351	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1418694748 CA355578440	352	R>W		No	ClinGen TOPMed gnomAD
CA2776605 rs770494199	354	E>K		No	ClinGen ExAC gnomAD
CA355578398 rs770494199	354	E>Q		No	ClinGen ExAC gnomAD
CA2776604 rs749249077	355	D>E		No	ClinGen ExAC gnomAD
rs996493288 CA90765847	356	C>S		No	ClinGen TOPMed
rs1190256395 CA355578339	357	P>S		No	ClinGen Ensembl
CA355578320 rs1577046877	358	Q>P		No	ClinGen Ensembl
CA355578255 rs1316987163	360	I>M		No	ClinGen gnomAD
rs1560505442 CA355578270	360	I>V		No	ClinGen Ensembl
rs1300770750 CA355578171	365	V>F		No	ClinGen gnomAD
rs747947412 CA2776602	366	Q>*		No	ClinGen ExAC gnomAD
CA355578160 rs1577046746	366	Q>P		No	ClinGen Ensembl
rs1354716186 CA355578139	367	C>*		No	ClinGen gnomAD
CA355578118 rs1351615619	368	W>*		No	ClinGen TOPMed
rs755180846 CA2776599	370	H>Q		No	ClinGen ExAC TOPMed
rs1428155517 CA355578078	370	H>Y		No	ClinGen TOPMed gnomAD
rs1164768601 CA355578022	372	P>A		No	ClinGen gnomAD
rs200483577 CA2776596	375	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376442586 CA2776595	377	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs376442586 CA2776594	377	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs141404332 CA2776590 COSM98834	382	R>W	stomach [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA355577887 rs1481947428	383	D>Y		No	ClinGen gnomAD
CA355577852 rs1293932868	384	F>L		No	ClinGen gnomAD
rs749939902 CA2776568	388	A>V		No	ClinGen ExAC gnomAD
rs1209265078 CA355577639	390	P>S		No	ClinGen TOPMed
CA2776567 rs765154750	393	M>L		No	ClinGen ExAC gnomAD
CA2776565 rs776494851	394	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2776566 rs761815054	394	R>W		No	ClinGen ExAC TOPMed gnomAD
CA355577494 rs1457888475	397	Q>E		No	ClinGen TOPMed gnomAD
CA2776564 rs768463774	397	Q>R		No	ClinGen ExAC gnomAD
CA90765528 rs79264848	399	F>S		No	ClinGen Ensembl
CA2776563 rs148791867	402	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2776561 rs772268617	403	D>E		No	ClinGen ExAC gnomAD
rs1199323322 CA355577321	403	D>N		No	ClinGen gnomAD
rs1560504721 CA355577297	404	K>E		No	ClinGen Ensembl
rs1185846124 CA355577265	406	H>R		No	ClinGen TOPMed
rs1420217152 CA355577255	407	I>V		No	ClinGen TOPMed
rs1431363387 CA355577230	408	Q>R		No	ClinGen TOPMed
CA355577217 rs1171575832	409	M>L		No	ClinGen TOPMed
rs1560504633 CA355577167	411	D>N		No	ClinGen Ensembl
rs1188193080 CA355577148	411	D>V		No	ClinGen gnomAD
CA2776555 rs778382280	415	V>G		No	ClinGen ExAC gnomAD
CA355577067 rs1325257065	415	V>I		No	ClinGen TOPMed gnomAD
rs917910559 CA90765488	417	E>*		No	ClinGen Ensembl
rs145954545 CA2776471	422	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs772897441 CA2776472	422	N>Y		No	ClinGen ExAC TOPMed gnomAD
CA355573742 rs1464956309	423	Y>C		No	ClinGen TOPMed gnomAD
CA2776469 rs369790528	426	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA355573682 rs1202967022	426	R>S		No	ClinGen gnomAD
rs1577017694 CA355573659	427	G>A		No	ClinGen Ensembl
rs1256973384 CA355573618	429	N>S		No	ClinGen gnomAD
rs1211303089 CA355573596	431	R>Q		No	ClinGen TOPMed
CA2776468 rs139128052	431	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1256178343 CA355573584	433	L>P		No	ClinGen TOPMed
rs1229303254 CA355573581	434	C>R		No	ClinGen gnomAD
rs1364521091 CA355573565	436	G>E		No	ClinGen TOPMed gnomAD
CA2776467 rs746946667	437	P>L		No	ClinGen ExAC
rs1206253815 CA355573556	438	F>L		No	ClinGen TOPMed
rs780099540 CA2776466	439	P>L		No	ClinGen ExAC TOPMed gnomAD
rs780099540 CA355573545	439	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1403122471 CA355573543 COSM241968 COSM241969	440	R>C	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA90759620 rs988895408	440	R>H		No	ClinGen TOPMed gnomAD
CA355573527 rs1170403007	442	V>A		No	ClinGen gnomAD
CA355573529 rs1393270307	442	V>M		No	ClinGen gnomAD
rs750250778 CA2776464	444	T>I		No	ClinGen ExAC gnomAD
rs760763690 CA2776458	448	G>S		No	ClinGen ExAC gnomAD
COSM1308975 COSM233620 COSM233619 rs201070008 CA2776455	450	S>L	pancreas skin urinary_tract [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs766664708 CA2776453	453	D>E		No	ClinGen ExAC TOPMed gnomAD
CA355573445 rs1312277143	456	Q>K		No	ClinGen gnomAD
CA90759547 rs201981998	460	N>K		No	ClinGen 1000Genomes
rs1577017060 CA355573371	466	G>E		No	ClinGen Ensembl
CA2776449 rs746500207	469	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1223736093 CA355573347	470	S>G		No	ClinGen TOPMed gnomAD
CA355573343 rs1226126359	470	S>N		No	ClinGen TOPMed
CA2776448 rs200985709	471	D>A		No	ClinGen ExAC gnomAD
rs1329188399 CA355573330	472	P>S		No	ClinGen TOPMed
CA2776447 rs548592570	473	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM316048 COSM316047 CA2776446 rs566778334	473	R>H	lung [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs376221693 CA355573316	474	H>N		No	ClinGen ESP TOPMed gnomAD
rs778860799 CA2776445	474	H>R		No	ClinGen ExAC gnomAD
rs376221693 CA90759510	474	H>Y		No	ClinGen ESP TOPMed gnomAD
CA2776444 rs757024520	475	C>F		No	ClinGen ExAC TOPMed gnomAD
rs757024520 CA355573299	475	C>S		No	ClinGen ExAC TOPMed gnomAD
CA2776443 rs749498750	479	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1271424037 CA355573243	479	P>S		No	ClinGen gnomAD
rs200116122 CA2776441	483	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2776439 rs755481543	484	E>*		No	ClinGen ExAC TOPMed gnomAD
CA2776438 rs755481543	484	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1250794123 CA355572926	485	L>Q		No	ClinGen gnomAD
CA355572853 rs1304808729	490	P>H		No	ClinGen gnomAD
CA355572855 rs1304808729	490	P>L		No	ClinGen gnomAD
rs753720855 CA2776343	490	P>S		No	ClinGen ExAC gnomAD
CA2776341 rs760352970	491	M>L		No	ClinGen ExAC gnomAD
CA355572846 rs760352970	491	M>V		No	ClinGen ExAC gnomAD
CA355572830 rs1577004534	492	D>A		No	ClinGen Ensembl
rs775825907 CA2776340	492	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1384445935 CA355572814	493	P>H		No	ClinGen gnomAD
rs1384445935 CA355572812	493	P>L		No	ClinGen gnomAD
CA2776339 rs767616697	493	P>S		No	ClinGen ExAC gnomAD
rs1451340833 CA355572807	494	P>A		No	ClinGen gnomAD
rs1377270988 CA355572802	494	P>L		No	ClinGen gnomAD
rs1275695671 CA2776333	495	D>N		No	ClinGen TOPMed
CA355572770 rs1453318395	496	L>R		No	ClinGen TOPMed gnomAD
CA90754753 rs989818546	498	S>R		No	ClinGen Ensembl
rs773816929 CA355572745	498	S>R		No	ClinGen ExAC TOPMed gnomAD
rs770236030 CA2776330	499	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1038998831 CA90754741	500	E>G		No	ClinGen TOPMed
CA355572718 rs1203828910	501	L>M		No	ClinGen TOPMed gnomAD
CA355572712 rs1484426692	501	L>P		No	ClinGen gnomAD
rs956993645 CA355572701	502	S>I		No	ClinGen TOPMed
rs956993645 CA90754737	502	S>N		No	ClinGen TOPMed
rs748438905 CA2776329	503	T>A		No	ClinGen ExAC TOPMed gnomAD
CA355572686 rs1376482182	503	T>I		No	ClinGen TOPMed
rs748438905 CA355572695	503	T>P		No	ClinGen ExAC TOPMed gnomAD
rs567934916 CA355572674	505	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2776327 rs34189351	505	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs567934916 CA2776328	505	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2776323 rs113728103	506	P>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs113728103 CA2776322	506	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA355572662 rs113728103	506	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs556151043 CA2776325	506	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2776324 rs556151043	506	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2776319 rs369294867	507	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2776320 rs369294867	507	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs35759128 VAR_032799 CA2776321	507	P>S		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
rs1577003844 CA355572617	509	H>L		No	ClinGen Ensembl
rs1433056512 CA355572624	509	H>Y		No	ClinGen TOPMed
rs199636920 CA2776312	510	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1331730428 CA355572565	513	V>L		No	ClinGen gnomAD
rs764647043 CA2776261	516	P>A		No	ClinGen ExAC gnomAD
rs761090992 CA2776260	517	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1456216833 CA355571034	517	T>I		No	ClinGen TOPMed gnomAD
rs1234330136 CA355571030	518	Y>C		No	ClinGen TOPMed gnomAD
CA2776259 rs775833454	518	Y>H		No	ClinGen ExAC gnomAD
rs1051704649 CA90751738	519	D>E		No	ClinGen TOPMed gnomAD
rs1226008384 CA355571018	520	P>S		No	ClinGen gnomAD
rs1576994388 CA355571010	521	V>E		No	ClinGen Ensembl
rs143787673 CA2776258	522	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143787673 CA90751722	522	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs145536913 CA2776257	522	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs535561787 CA2776255	523	E>K		No	ClinGen ExAC TOPMed gnomAD
CA90751687 rs535561787	523	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs147053694 CA355570978	526	D>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA90751682 rs1043355120	526	D>N		No	ClinGen TOPMed
rs147053694 CA2776254	526	D>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355570980 rs1043355120	526	D>Y		No	ClinGen TOPMed
rs768711057 CA2776252	527	P>L		No	ClinGen ExAC gnomAD
rs776492917 CA90751679	527	P>S		No	ClinGen ExAC TOPMed gnomAD
rs776492917 CA2776253	527	P>T		No	ClinGen ExAC TOPMed gnomAD
rs1408614584 CA355570968	528	L>F		No	ClinGen gnomAD
CA2776250 rs758222454	528	L>S		No	ClinGen ExAC gnomAD
rs758222454 CA2776249	528	L>W		No	ClinGen ExAC gnomAD
rs1277707360 CA355570961	529	S>F		No	ClinGen gnomAD
CA2776247 rs112740728	530	S>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2776245 rs377663571	531	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1249584563 CA355570924	534	R>M		No	ClinGen TOPMed
CA355570917 rs1264052162	535	L>P		No	ClinGen gnomAD
rs764091709 CA355570913	536	G>D		No	ClinGen ExAC TOPMed gnomAD
rs764091709 CA2776244	536	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2776241 rs201768983	538	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs150245181 CA2776242	538	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA355570891 rs1387615483	540	P>R		No	ClinGen TOPMed
CA2776240 rs559512474	541	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs1365688755 CA355570884	542	L>M		No	ClinGen gnomAD
rs1291631613 CA355570881	542	L>P		No	ClinGen gnomAD
CA2776238 rs374337535	543	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA90751546 rs1007104079	544	R>*		No	ClinGen gnomAD
rs561269464 CA355570872	544	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2776235 rs561269464	544	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1237496903 CA355570848	548	L>P		No	ClinGen TOPMed
CA355570843 rs772037104	549	A>E		No	ClinGen ExAC TOPMed gnomAD
CA2776232 rs772037104	549	A>V		No	ClinGen ExAC TOPMed gnomAD
rs779066289 CA2776230	551	P>L		No	ClinGen ExAC gnomAD
rs200135214 CA2776229	552	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA355570827 rs1210902870	552	S>P		No	ClinGen TOPMed
rs777850590 CA2776227	553	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2776224 rs781648092	554	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2776225 rs578158862	554	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs755357120 COSM1537357 COSM1537359 COSM1537358 CA2776223	556	P>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs761541404 CA2776220	561	S>N		No	ClinGen ExAC gnomAD
rs1173782144 CA355570693	562	R>*		No	ClinGen gnomAD
rs753386713 CA2776219	562	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1294394132 CA355570684	563	G>S		No	ClinGen TOPMed
rs934457419 CA90751337	564	S>C		No	ClinGen Ensembl
rs934457419 CA355570653	564	S>G		No	ClinGen Ensembl
rs763730549 CA2776217	564	S>N		No	ClinGen ExAC gnomAD
CA355570638 rs760235668	564	S>R		No	ClinGen ExAC TOPMed gnomAD
rs369417335 CA2776215	565	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs369417335 CA355570624	565	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2776213 rs202068965	566	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2776214 rs202068965	566	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2776212 rs770581073	567	E>K		No	ClinGen ExAC TOPMed gnomAD
CA2776211 rs770581073	567	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA2776208 rs777940731	569	T>M		No	ClinGen ExAC TOPMed
CA355570468 rs781714123	572	D>H		No	ClinGen ExAC TOPMed gnomAD
rs781714123 CA2776205	572	D>N		No	ClinGen ExAC TOPMed gnomAD
CA355570465 rs781714123	572	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA355570399 rs1576993322	573	F>S		No	ClinGen Ensembl
CA355570388 rs1460672381	574	G>D		No	ClinGen TOPMed
rs751954076 CA2776203	574	G>S		No	ClinGen ExAC TOPMed gnomAD
CA355570352 rs1313378135	575	E>G		No	ClinGen gnomAD
CA2776202 rs551361062	577	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA210179 rs375205272 RCV000201369	578	V>M		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs941740281 CA90751182	579	V>A		No	ClinGen TOPMed
CA355570272 rs1462192787	579	V>I		No	ClinGen TOPMed gnomAD
CA355570259 rs1462192787	579	V>L		No	ClinGen TOPMed gnomAD
rs576322014 CA2776200	580	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1050661439 CA90751142	582	L>P		No	ClinGen TOPMed gnomAD
rs559335888 CA2776196	583	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs766876857 CA2776197	583	R>W		No	ClinGen ExAC TOPMed gnomAD
CA355570152 rs1480461528	584	P>L		No	ClinGen gnomAD
CA2776195 rs201643400	584	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1482889527 CA355570142	585	C>R		No	ClinGen TOPMed
CA2776192 rs368666965	586	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs965411369 CA90751109	586	A>V		No	ClinGen TOPMed gnomAD
CA355570086 rs1308593885	587	P>L		No	ClinGen gnomAD
CA355570098 rs1338557957	587	P>S		No	ClinGen TOPMed gnomAD
rs199694736 CA2776189	588	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2776187 rs200619114	589	L>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355570062 rs1449421834	589	L>V		No	ClinGen TOPMed
CA2776185 rs747585509	590	A>V		No	ClinGen ExAC TOPMed gnomAD
rs954504227 CA90751069	593	A>V		No	ClinGen gnomAD
rs755837994 CA2776180	594	M>I		No	ClinGen ExAC gnomAD
CA90751054 rs1013529100	594	M>T		No	ClinGen TOPMed
CA2776181 rs371531955	594	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA355569917 rs1239863985	595	D>G		No	ClinGen TOPMed gnomAD
rs367962373 CA2776179	596	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1209010646 CA355569890	597	C>S		No	ClinGen TOPMed gnomAD
CA2776176 rs751564145	598	S>C		No	ClinGen ExAC gnomAD
rs751564145 CA2776177	598	S>F		No	ClinGen ExAC gnomAD
CA2776174 rs762803119	601	D>G		No	ClinGen ExAC gnomAD
rs1375548377 CA355569843	601	D>N		No	ClinGen TOPMed gnomAD
rs375132869 CA2776172	602	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA355569810 rs1576992651	603	T>P		No	ClinGen Ensembl
CA2776171 rs762045788	604	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1323377600 CA355569788	604	P>S		No	ClinGen gnomAD
rs1419574236 CA355569696	608	P>L		No	ClinGen gnomAD
rs201512822 CA2776168	609	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1343794493 CA355569693	609	T>P		No	ClinGen TOPMed
rs779440042 CA2776164	610	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2776165 rs371483691	610	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA355569643 rs757652270	611	A>S		No	ClinGen ExAC TOPMed gnomAD
rs757652270 CA2776163	611	A>T		No	ClinGen ExAC TOPMed gnomAD
CA355569626 rs1352811113	612	L>V		No	ClinGen gnomAD
rs374257832 CA2776160	614	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs200673906 CA2776161	614	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2776158 rs765848680	615	P>S		No	ClinGen ExAC gnomAD
rs1327001495 CA355569562	617	H>R		No	ClinGen TOPMed
rs1043023850 CA90750911	618	P>L		No	ClinGen Ensembl
CA90750919 rs904433624	618	P>S		No	ClinGen Ensembl
rs750313243 CA2776156	619	T>A		No	ClinGen ExAC TOPMed gnomAD
COSM119714 CA2776155 rs765049741	619	T>M	ovary [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1175665015 CA355569439	624	W>*		No	ClinGen TOPMed gnomAD
CA355569417 rs1185425520	625	D>G		No	ClinGen Ensembl
rs775441917 CA355569400	626	A>E		No	ClinGen ExAC gnomAD
CA2776151 rs577968963	626	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775441917 CA2776150	626	A>V		No	ClinGen ExAC gnomAD
rs772225522 CA2776149	627	R>C		No	ClinGen ExAC TOPMed gnomAD
rs760147898 CA2776148	627	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355569398 rs772225522	627	R>S		No	ClinGen ExAC TOPMed gnomAD
CA2776147 rs774965640	628	P>L		No	ClinGen ExAC gnomAD
rs1051925368 CA90750895	628	P>T		No	ClinGen Ensembl
CA2776144 rs780964897	630	P>A		No	ClinGen ExAC
rs768199433 CA355569359	630	P>L		No	ClinGen ExAC gnomAD
CA2776143 rs768199433	630	P>R		No	ClinGen ExAC gnomAD
CA2776142 rs746616379	631	P>H		No	ClinGen ExAC gnomAD
CA355569352 rs1277234468	631	P>S		No	ClinGen gnomAD
CA2776138 rs778803763	632	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2776137 rs757105764	632	P>L		No	ClinGen ExAC TOPMed gnomAD
CA355569342 rs778803763	632	P>S		No	ClinGen ExAC TOPMed gnomAD
rs199549073 CA2776131	634	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1289520437 CA355569313	634	A>V		No	ClinGen TOPMed
rs752921253 CA2776130	635	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1576991827 CA355569294	636	D>G		No	ClinGen Ensembl
CA355569273 rs537157165	637	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2776128 rs555967551	637	D>N		No	ClinGen 1000Genomes ExAC TOPMed
rs1420478659 CA355569265	638	V>A		No	ClinGen gnomAD
rs201407161 CA2776126	638	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355569257 rs1405619159	639	A>P		No	ClinGen TOPMed
rs1477354282 CA355569253	639	A>V		No	ClinGen gnomAD
CA355569224 rs1368207572	641	D>E		No	ClinGen TOPMed
CA2776124 rs770147978	641	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs373278946 CA2776123	642	E>Q		No	ClinGen ESP ExAC gnomAD
CA2776122 rs779650881	643	D>N		No	ClinGen ExAC gnomAD
rs998844154 CA355569183	644	D>E		No	ClinGen TOPMed gnomAD
rs771622602 CA2776121	644	D>G		No	ClinGen ExAC gnomAD
CA355569195 rs1207341396	644	D>N		No	ClinGen gnomAD
rs1295462134 CA355569149	647	I>V		No	ClinGen gnomAD
CA2776118 rs778891910	649	S>A		No	ClinGen ExAC TOPMed gnomAD
rs778891910 CA90750696	649	S>P		No	ClinGen ExAC TOPMed gnomAD
CA355569088 rs1560475769	651	N>S		No	ClinGen Ensembl
rs1464219947 CA355569072	652	S>N		No	ClinGen gnomAD
CA2776116 rs753755395	653	T>I		No	ClinGen ExAC TOPMed gnomAD
rs755903649 CA2776114	654	L>F		No	ClinGen ExAC TOPMed gnomAD
CA355569046 rs1412957699	654	L>H		No	ClinGen gnomAD
rs1238205246 CA355569035	655	V>A		No	ClinGen gnomAD
CA2776112 rs370067409	655	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA2776110 rs201932629	657	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM1229920 CA90750659 rs866175307 COSM1229919 COSM1229921	657	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2776108 rs763392797	658	G>E		No	ClinGen ExAC gnomAD
rs746486555 CA355568996	659	V>F		No	ClinGen ExAC TOPMed gnomAD
CA2776106 rs746486555	659	V>I		No	ClinGen ExAC TOPMed gnomAD
rs762219173 CA2776105	660	P>S		No	ClinGen ExAC gnomAD
CA90750603 rs933181065	661	A>T		No	ClinGen TOPMed gnomAD
rs775184861 CA2776104	661	A>V		No	ClinGen ExAC gnomAD
CA355568958 rs146623412	662	G>A		No	ClinGen ESP ExAC gnomAD
CA2776101 rs146623412	662	G>E		No	ClinGen ESP ExAC gnomAD
rs371737738 CA2776102	662	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2776100 rs376888900	663	P>L		No	ClinGen ExAC gnomAD
CA90750566 rs1036101042	664	S>I		No	ClinGen gnomAD
CA355568935 rs1036101042	664	S>T		No	ClinGen gnomAD
rs1372268969 CA355568927	665	Q>E		No	ClinGen TOPMed
CA355568921 rs1412715211	665	Q>H		No	ClinGen TOPMed
rs749219777 CA2776099	666	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1182649859 CA355568903	667	Q>R		No	ClinGen Ensembl
rs777741134 CA2776098	668	T>I		No	ClinGen ExAC gnomAD
rs1437503575 CA355568885	669	N>D		No	ClinGen gnomAD
rs747969547 CA2776096	669	N>I		No	ClinGen ExAC gnomAD
rs199684133 CA2776095	669	N>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747969547 CA2776097	669	N>S		No	ClinGen ExAC gnomAD
CA355568850 rs368896724	671	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs368896724 CA2776093	671	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA355568833 rs1354962388	672	F>S		No	ClinGen gnomAD
rs765764522 CA2776089	674	P>H		No	ClinGen ExAC TOPMed gnomAD
rs765764522 CA2776088	674	P>L		No	ClinGen ExAC TOPMed gnomAD
rs143166115 CA2776090	674	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355568773 rs1386380592	676	Q>E		No	ClinGen gnomAD
rs776988340 CA2776086	676	Q>R		No	ClinGen ExAC
CA2776085 rs764388669	677	A>T		No	ClinGen ExAC gnomAD
CA2776084 rs371857601	677	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199680214 CA355568741	678	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199680214 CA2776080	678	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs748815812 CA2776082	678	R>W		No	ClinGen ExAC TOPMed gnomAD
rs769773996 CA2776079	679	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769773996 CA355568730	679	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA2776075 rs747276199	680	P>H		No	ClinGen ExAC TOPMed gnomAD
CA2776076 rs747276199	680	P>L		No	ClinGen ExAC TOPMed gnomAD
rs747276199 CA355568722	680	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2776077 rs781157859	680	P>S		No	ClinGen ExAC TOPMed gnomAD
CA90750398 rs1007853359	681	P>H		No	ClinGen TOPMed gnomAD
rs1423506632 CA355568718	681	P>S		No	ClinGen gnomAD
rs758468431 CA2776072	683	L>V		No	ClinGen ExAC gnomAD
rs778796034 CA2776070	684	E>G		No	ClinGen ExAC gnomAD
CA2776071 rs750515330	684	E>K		No	ClinGen ExAC gnomAD
rs1232816006 CA355568654	685	D>G		No	ClinGen TOPMed gnomAD
CA355568599 rs1299004946	687	L>P		No	ClinGen gnomAD
rs764478648 CA2776067	689	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2776066 rs761003004	690	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1297483717 CA355568551	690	P>T		No	ClinGen gnomAD
rs533205195 CA355568531	691	P>A		No	ClinGen 1000Genomes TOPMed
CA355568519 rs1576990512	691	P>R		No	ClinGen Ensembl
rs533205195 CA90750257	691	P>S		No	ClinGen 1000Genomes TOPMed
rs1576990478 CA355568513	692	Q>E		No	ClinGen Ensembl
CA2776064 rs559677615	692	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA90750255 rs559677615	692	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2776062 rs772790657	693	G>D		No	ClinGen ExAC
CA2776063 rs762445193	693	G>S		No	ClinGen ExAC gnomAD
COSM1485038 rs1173359856 CA355568485 COSM1485039 COSM1485037	694	G>E	breast [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
rs372090414 CA90750231	694	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs372090414 CA2776061	694	G>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355568476 rs1192168006	695	G>D		No	ClinGen gnomAD
rs761873521 CA2776060	695	G>S		No	ClinGen ExAC gnomAD
rs776680075 CA2776059	697	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776680075 CA90750199	697	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1256969807 CA355568422	697	P>S		No	ClinGen gnomAD
rs1200360613 CA355568392	698	P>L		No	ClinGen TOPMed gnomAD
CA2776057 rs746789643	698	P>S		No	ClinGen ExAC TOPMed gnomAD
rs139797100 RCV000248150 CA2776054	699	S>G		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1216723949 CA355568344	699	S>I		No	ClinGen TOPMed gnomAD
CA355568337 rs1216723949	699	S>T		No	ClinGen TOPMed gnomAD
rs947751079 CA90750151	700	S>F		No	ClinGen gnomAD
rs777846435 CA2776050	701	A>E		No	ClinGen ExAC gnomAD
rs374499086 CA2776052	701	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374499086 CA2776051	701	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA355568269 rs1400036820	702	Q>*		No	ClinGen gnomAD
rs1168909663 CA355568262	702	Q>H		No	ClinGen gnomAD
CA2776048 rs756264290	703	T>I		No	ClinGen ExAC TOPMed gnomAD
CA355568228 rs762787633	704	A>S		No	ClinGen ExAC TOPMed gnomAD
CA2776045 rs762787633	704	A>T		No	ClinGen ExAC TOPMed gnomAD
CA355568203 rs1288085238	704	A>V		No	ClinGen TOPMed
rs371555478 CA2776044	705	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA355568091 rs1457427373	708	Q>*		No	ClinGen gnomAD
rs768284271 CA2776040	708	Q>H		No	ClinGen ExAC gnomAD
CA355568039 rs543985364	709	A>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2776039 rs543985364	709	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1208673423 CA355567994	711	Q>*		No	ClinGen TOPMed
rs746207867 CA2776036	711	Q>L		No	ClinGen ExAC gnomAD
CA355567980 rs1310731001	712	Q>*		No	ClinGen gnomAD
CA2776035 rs779170934	712	Q>R		No	ClinGen ExAC TOPMed gnomAD
rs181582565 CA2776034	713	E>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA90750075 rs778321376	714	C>F		No	ClinGen ExAC gnomAD
rs778321376 CA2776032	714	C>Y		No	ClinGen ExAC gnomAD
CA355567911 rs1410935406	715	M>L		No	ClinGen TOPMed
CA355567909 rs1410935406	715	M>V		No	ClinGen TOPMed
rs1388860273 CA355567886	716	R>K		No	ClinGen gnomAD
rs1163216398 CA355567858	717	Q>*		No	ClinGen gnomAD
rs748226215 CA2776030	718	L>P		No	ClinGen ExAC TOPMed gnomAD
CA2776028 rs755185729	719	Q>*		No	ClinGen ExAC gnomAD
rs750183216 CA2776027	720	A>P		No	ClinGen ExAC gnomAD
rs750183216 CA355567796	720	A>S		No	ClinGen ExAC gnomAD
rs557924118 CA2776025	721	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs557924118 CA2776024	721	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs765135399 CA2776026	721	P>S		No	ClinGen ExAC gnomAD
CA2776021 rs565563192	723	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1351485834 CA355567705	724	S>F		No	ClinGen TOPMed
CA355567721 rs1354098895	724	S>P		No	ClinGen gnomAD
CA355567693 rs1393439951	725	P>A		No	ClinGen TOPMed
CA2776020 rs56260729 RCV000246369 RCV002058200 VAR_032800	725	P>L		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1306606639 CA355567680	726	A>S		No	ClinGen TOPMed gnomAD
rs1306606639 CA355567684	726	A>T		No	ClinGen TOPMed gnomAD
rs1265493204 CA355567677	726	A>V		No	ClinGen TOPMed
rs1438110863 CA355567643	727	P>L		No	ClinGen gnomAD
CA355567632 rs1323227352	728	S>C		No	ClinGen TOPMed gnomAD
CA355567634 rs1323227352	728	S>F		No	ClinGen TOPMed gnomAD
CA2776013 rs199747568	729	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA90749986 rs887526281	730	S>I		No	ClinGen Ensembl
CA355567593 rs781154321	730	S>R		No	ClinGen ExAC gnomAD
rs200231100 CA2776009	731	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200231100 CA2776010	731	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2776011 rs755168348	731	P>S		No	ClinGen ExAC gnomAD
rs531444440 CA2776005	732	G>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs531444440 CA2776006	732	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2776004 rs766944061	733	G>A		No	ClinGen ExAC TOPMed gnomAD
rs766944061 CA2776003	733	G>D		No	ClinGen ExAC TOPMed gnomAD
rs761901506 CA355567507	734	D>E		No	ClinGen ExAC TOPMed gnomAD
rs763273564 CA2775999	735	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2776000 rs766070718	735	D>G		No	ClinGen ExAC gnomAD
CA2776001 rs373598238	735	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2775998 rs773597954	737	P>L		No	ClinGen ExAC gnomAD
CA2775997 rs770236909	740	P>A		No	ClinGen ExAC gnomAD
rs940895312 CA90749810	740	P>L		No	ClinGen TOPMed
CA355565968 rs1231516551	741	P>L		No	ClinGen TOPMed gnomAD
rs201113520 CA2775995	742	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2775996 rs773964222	742	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2775992 rs374516264	743	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2775990 rs749048241	744	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2775988 rs756017235	745	I>M		No	ClinGen ExAC TOPMed gnomAD
rs777729121 CA2775989	745	I>V		No	ClinGen ExAC TOPMed gnomAD
CA355565796 rs1576988954	746	P>L		No	ClinGen Ensembl
rs551612119 CA2775987	746	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs551612119 CA355565834	746	P>T		No	ClinGen 1000Genomes ExAC gnomAD
CA355565785 rs1194346623	747	P>A		No	ClinGen gnomAD
rs1477418236 CA355565760	747	P>R		No	ClinGen gnomAD
rs1194346623 CA355565775	747	P>T		No	ClinGen gnomAD
CA355565754 rs202015088	748	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs57872314 CA355565746	748	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355565748 rs57872314	748	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
VAR_032801 rs57872314 CA2775984	748	R>Q		No	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs202015088 CA2775985	748	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355565734 rs529614594	749	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs529614594 CA2775982	749	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355565740 rs1560472879	749	P>S		No	ClinGen Ensembl
CA2775981 rs750728882	750	T>M		No	ClinGen ExAC TOPMed gnomAD
CA355565732 rs1320470602	750	T>P		No	ClinGen gnomAD
rs377360010 CA2775979	751	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200430444 CA2775978	751	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355565697 rs200430444	751	R>L		No	ClinGen ExAC TOPMed gnomAD
rs377360010 CA355565704	751	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs999242860 CA90749706	752	P>A		No	ClinGen TOPMed gnomAD
rs769251815 CA2775977	752	P>L		No	ClinGen ExAC gnomAD
rs999242860 CA90749697	752	P>S		No	ClinGen TOPMed gnomAD
CA355565660 rs760802031	753	H>P		No	ClinGen ExAC gnomAD
rs760802031 CA2775976	753	H>R		No	ClinGen ExAC gnomAD
CA355565666 rs1332469955	753	H>Y		No	ClinGen gnomAD
CA2775974 rs772366417	754	V>I		No	ClinGen ExAC TOPMed gnomAD
CA355565613 rs1311540830	755	Q>H		No	ClinGen TOPMed
CA355565617 rs1417289012	755	Q>L		No	ClinGen gnomAD
CA2775970 rs564644836	757	S>F		No	ClinGen 1000Genomes ExAC gnomAD
rs769465011 CA2775971	757	S>P		No	ClinGen ExAC TOPMed gnomAD
rs780962247 CA2775969	759	A>V		No	ClinGen ExAC TOPMed gnomAD
CA355565501 rs1198407541	760	P>S		No	ClinGen gnomAD
rs757978560 CA2775965	761	P>L		No	ClinGen ExAC TOPMed gnomAD
rs757978560 CA355565470	761	P>R		No	ClinGen ExAC TOPMed gnomAD
CA2775962 rs764995836	762	G>D		No	ClinGen ExAC gnomAD
CA355565457 rs1229344430	762	G>S		No	ClinGen gnomAD
rs754266209 CA355565431	763	E>A		No	ClinGen ExAC TOPMed gnomAD
rs754266209 CA2775960	763	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2775961 rs762059055	763	E>K		No	ClinGen ExAC TOPMed gnomAD
CA355565404 rs1445725462	764	E>D		No	ClinGen TOPMed gnomAD
CA355565406 rs1445725462	764	E>D		No	ClinGen TOPMed gnomAD
CA355565410 rs1331863683	764	E>G		No	ClinGen TOPMed gnomAD
CA90749551 rs903430449	766	T>I		No	ClinGen Ensembl
CA2775958 rs989870732	766	T>P		No	ClinGen Ensembl
CA355565335 rs1166856783	768	Q>*		No	ClinGen gnomAD
rs572068450 CA2775957	768	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs761282756 CA2775956	769	W>R		No	ClinGen ExAC
rs1412447562 CA355565278	770	P>L		No	ClinGen gnomAD
rs202205892 CA90749524	772	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2775955 rs202205892	772	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA355565252 rs1228010283	772	P>S		No	ClinGen TOPMed
rs914745340 CA90749515	773	A>T		No	ClinGen Ensembl
CA355565193 rs774416682	775	P>H		No	ClinGen ExAC gnomAD
CA2775952 rs774416682	775	P>L		No	ClinGen ExAC gnomAD
CA355565197 rs1178464753	775	P>S		No	ClinGen gnomAD
CA2775951 rs771225452	776	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2775948 rs371807471	777	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2775949 rs3749334	777	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA355565155 rs1202287442	778	V>L		No	ClinGen TOPMed
rs746952333 CA2775947	779	P>L		No	ClinGen ExAC gnomAD
rs976052461 CA90749458	779	P>S		No	ClinGen Ensembl
rs757888662 CA2775945	780	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1250048317 CA355565115	780	P>S		No	ClinGen TOPMed
rs764528408 CA2775940	781	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs75030861 CA2775942	781	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2775938 rs201891176	782	E>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2775937 rs768190584	782	E>D		No	ClinGen ExAC gnomAD
rs201891176 CA90749384	782	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201891176 CA2775939	782	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs774523252 CA2775935	783	P>H		No	ClinGen ExAC gnomAD
rs774523252 CA2775936	783	P>L		No	ClinGen ExAC gnomAD
CA355565036 rs1286557771	784	L>P		No	ClinGen TOPMed gnomAD
CA2775934 rs766464064	784	L>V		No	ClinGen ExAC TOPMed gnomAD
rs199949969 CA2775933	785	S>F		No	ClinGen 1000Genomes ExAC gnomAD
CA355565032 rs1427715415	785	S>P		No	ClinGen gnomAD
rs1279943865 CA355565002	786	P>L		No	ClinGen TOPMed
CA2775930 rs746862407	787	Q>R		No	ClinGen ExAC gnomAD
CA2775929 rs775383586	788	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2775927 rs745326890	789	S>L		No	ClinGen ExAC TOPMed gnomAD
rs745326890 CA2775928	789	S>W		No	ClinGen ExAC TOPMed gnomAD
rs756798638 CA2775925	791	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1314105755 CA355564907	792	P>S		No	ClinGen TOPMed gnomAD
CA2775924 rs748969153	793	S>I		No	ClinGen ExAC gnomAD
rs777351661 CA2775923	794	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1281324820 CA355564830	796	V>A		No	ClinGen TOPMed gnomAD
rs1401725905 CA355564827	797	P>T		No	ClinGen TOPMed gnomAD
rs756528141 CA2775922	798	P>A		No	ClinGen ExAC gnomAD
CA2775921 rs753155303	798	P>L		No	ClinGen ExAC gnomAD
rs369141570 CA2775920	800	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs3749333 VAR_057115 CA2775918	802	P>L		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA355564726 rs3749333	802	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2775919 rs755566982	802	P>S		No	ClinGen ExAC gnomAD
rs1427575241 CA355564701	803	L>P		No	ClinGen TOPMed gnomAD
rs200979285 CA2775916	804	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1478395728 CA355564661	805	P>L		No	ClinGen gnomAD
rs200026055 CA2775914	806	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2775915 rs368269910	806	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1033597707 CA90749194	809	S>G		No	ClinGen TOPMed
rs570333707 CA2775913	809	S>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775291990 CA2775912	810	S>L		No	ClinGen ExAC gnomAD
CA2775910 rs759528275	814	T>S		No	ClinGen ExAC TOPMed gnomAD
rs372158232 CA90749117	815	M>I		No	ClinGen ESP
CA2775908 rs770465067	815	M>T		No	ClinGen ExAC gnomAD
CA2775907 rs748800592	816	P>S		No	ClinGen ExAC gnomAD
CA355564430 rs1303086730	819	Q>R		No	ClinGen gnomAD
CA2775905 rs769602863	821	F>S		No	ClinGen ExAC gnomAD
rs1404366976 CA355564394	822	A>T		No	ClinGen gnomAD
CA2775904 rs748476187	822	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2775902 rs755476319	823	S>L		No	ClinGen ExAC gnomAD
rs1191184155 CA355564361	824	D>V		No	ClinGen gnomAD
rs1425658116 CA355564348	825	P>R		No	ClinGen gnomAD
CA355564335 rs1256907498	826	K>N		No	ClinGen TOPMed gnomAD
rs1256907498 CA355564333	826	K>N		No	ClinGen TOPMed gnomAD
rs552313951 CA355564315	828	A>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs552313951 CA2775900	828	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2775899 rs552313951	828	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2775897 rs148423089	829	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2775896 rs148423089	829	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752427250 COSM327894 CA2775895	830	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1475031162 CA355564292	830	P>S		No	ClinGen TOPMed
rs759310509 CA2775893	831	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1225083696 CA355564282	831	Q>K		No	ClinGen gnomAD
CA355564269 rs900630482	832	V>L		No	ClinGen TOPMed
CA90749005 rs900630482	832	V>M		No	ClinGen TOPMed
CA355564255 rs1451476860	833	I>V		No	ClinGen gnomAD
CA355564221 rs1333866000	835	A>V		No	ClinGen gnomAD
CA2775891 rs774327601	836	P>S		No	ClinGen ExAC gnomAD
CA2775890 rs762489031	837	G>D		No	ClinGen ExAC TOPMed gnomAD
rs1396165730 CA355564201	837	G>S		No	ClinGen gnomAD
rs762489031 CA2775889	837	G>V		No	ClinGen ExAC TOPMed gnomAD
CA2775888 rs144573163	838	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2775884 rs113120669	839	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2775883 rs113120669	839	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2775885 rs781059806	839	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1560470349 CA355564166	840	A>G		No	ClinGen Ensembl
CA355564163 rs1180333924	841	G>C		No	ClinGen gnomAD
CA355564152 rs780578357	842	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2775880 rs780578357	842	P>S		No	ClinGen ExAC TOPMed gnomAD
CA355564139 rs1194007173	843	C>Y		No	ClinGen gnomAD
CA2775878 rs750450303	844	I>T		No	ClinGen ExAC
rs149295036 CA2775876	846	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA355564112 rs759346611	847	I>M		No	ClinGen ExAC TOPMed gnomAD
rs764353654 CA2775874	847	I>V		No	ClinGen ExAC gnomAD
rs751345683 CA2775872	848	V>I		No	ClinGen ExAC TOPMed gnomAD
rs550521078 CA90748925	849	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762813304 CA2775870	849	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA2775871 rs550521078	849	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2775867 rs761465390	850	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2775868 rs368791865	850	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA90748886 rs915031121	852	K>N		No	ClinGen TOPMed gnomAD
rs916534153 CA90748887	852	K>R		No	ClinGen Ensembl
CA2775866 rs776400682	853	K>N		No	ClinGen ExAC gnomAD
CA355564083 rs139623696	853	K>R		No	ClinGen ESP gnomAD
CA90748885 rs139623696	853	K>T		No	ClinGen ESP gnomAD
CA90748863 rs991055441	854	V>I		No	ClinGen Ensembl
CA2775865 rs768232095	855	S>R		No	ClinGen ExAC gnomAD
rs1179377316 CA355564052	858	H>Y		No	ClinGen gnomAD
rs1224962791 CA355564042	859	Y>C		No	ClinGen TOPMed
CA2775864 rs747357159	860	Y>*		No	ClinGen ExAC gnomAD
rs1265780719 CA355564035	860	Y>C		No	ClinGen TOPMed
rs1349523219 CA355564024	862	L>M		No	ClinGen TOPMed
CA2775861 rs746375967	863	P>H		No	ClinGen ExAC TOPMed gnomAD
rs746375967 CA355564015	863	P>L		No	ClinGen ExAC TOPMed gnomAD
CA355564017 rs1464655598	863	P>S		No	ClinGen gnomAD
CA2775857 rs778020093	864	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2775859 rs143850445	864	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2775858 rs143850445	864	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs532011309 CA90748801	865	R>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs202157460 CA355564007	865	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs202157460 CA2775856	865	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2775855 rs751310823	866	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758336887 CA2775853	867	S>T		No	ClinGen ExAC gnomAD
rs1298821975 CA355563993	868	Y>C		No	ClinGen gnomAD
rs750374709 CA2775852	868	Y>H		No	ClinGen ExAC gnomAD
CA355563977 rs1467369796	870	E>D		No	ClinGen gnomAD
rs1156635783 CA355563984	870	E>K		No	ClinGen TOPMed gnomAD
rs1156635783 CA355563983	870	E>Q		No	ClinGen TOPMed gnomAD
CA2775849 rs776311761	871	R>C		No	ClinGen ExAC TOPMed gnomAD
CA2775848 rs763752077	871	R>H		No	ClinGen ExAC TOPMed gnomAD
CA355563962 rs1408328379	873	Q>*		No	ClinGen TOPMed
CA355563957 rs1288145659	873	Q>H		No	ClinGen TOPMed
rs760254621 CA2775847	874	R>C		No	ClinGen ExAC TOPMed gnomAD
CA355563956 rs760254621	874	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2775846 rs138330429	874	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2775844 rs746283844	877	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1222233042 CA355563922	879	A>V		No	ClinGen gnomAD
rs1292332735 CA355563919	880	Q>*		No	ClinGen TOPMed
rs202180187 CA90748673	880	Q>R		No	ClinGen Ensembl
CA2775843 rs771463435	881	S>G		No	ClinGen ExAC gnomAD
CA355563910 rs1430064841	881	S>I		No	ClinGen gnomAD
COSM4157927 COSM4157928 rs1490825822 COSM4157926 CA355563904	882	P>L	thyroid [Cosmic]	No	ClinGen cosmic curated TOPMed
CA2775842 rs749322028	883	E>K		No	ClinGen ExAC TOPMed gnomAD
rs777728501 CA2775841	884	E>K		No	ClinGen ExAC TOPMed gnomAD
CA355563877 rs1419871487	886	T>I		No	ClinGen TOPMed
CA355563879 rs1419871487	886	T>N		No	ClinGen TOPMed
CA90748615 rs80167201	886	T>P		No	ClinGen Ensembl
CA355563876 rs781536742	887	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2775836 rs111618622	887	P>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2775837 rs111618622	887	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781536742 CA2775838	887	P>S		No	ClinGen ExAC TOPMed gnomAD
rs753328003 CA90748587	888	L>M		No	ClinGen ExAC gnomAD
CA90748576 rs916463382	889	P>T		No	ClinGen TOPMed
rs148323328 CA2775832	890	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2775831 RCV000245873 rs148323328 RCV000877841	890	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752274977 CA2775830	891	P>S		No	ClinGen ExAC TOPMed gnomAD
rs759856513 CA2775828	892	L>P		No	ClinGen ExAC
rs759856513 CA355563852	892	L>Q		No	ClinGen ExAC
CA355563855 rs767242132	892	L>V		No	ClinGen ExAC gnomAD
CA355563851 rs1274295834	893	L>M		No	ClinGen gnomAD
CA355563849 rs1214444990	893	L>Q		No	ClinGen gnomAD
CA2775826 rs771373459	894	L>P		No	ClinGen ExAC gnomAD
CA2775825 rs763456446	895	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1335889456 CA355563832	896	P>L		No	ClinGen gnomAD
rs1335889456 CA355563833	896	P>R		No	ClinGen gnomAD
CA2775824 rs200078114	897	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs200078114 CA90748470	897	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA355563826 rs1329499408	898	S>G		No	ClinGen gnomAD
rs1329499408 CA355563827	898	S>R		No	ClinGen gnomAD
CA355563812 rs1254272117	899	T>I		No	ClinGen TOPMed
rs1444263058 CA355563808	900	P>S		No	ClinGen TOPMed
rs748310766 CA2775822	901	A>S		No	ClinGen ExAC gnomAD
rs781238826 CA2775821	901	A>V		No	ClinGen ExAC gnomAD
rs769029770 CA2775820	902	P>A		No	ClinGen ExAC TOPMed gnomAD
CA355563784 rs778864476	903	A>P		No	ClinGen ExAC TOPMed gnomAD
rs778864476 CA2775818	903	A>T		No	ClinGen ExAC TOPMed gnomAD
CA355563770 rs944837819	904	A>G		No	ClinGen TOPMed gnomAD
CA355563775 rs753711118	904	A>P		No	ClinGen ExAC TOPMed gnomAD
CA2775816 rs753711118	904	A>T		No	ClinGen ExAC TOPMed gnomAD
CA90748410 rs944837819	904	A>V		No	ClinGen TOPMed gnomAD
rs1359058416 CA355563761	905	P>L		No	ClinGen gnomAD
CA2775815 rs777822603	905	P>S		No	ClinGen ExAC TOPMed gnomAD
rs755551695 CA355563754	906	T>K		No	ClinGen ExAC TOPMed gnomAD
CA2775814 rs755551695	906	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1446228525 CA355563759	906	T>P		No	ClinGen TOPMed gnomAD
rs759204293 CA2775811	908	T>A		No	ClinGen ExAC gnomAD
CA355563739 rs759204293	908	T>P		No	ClinGen ExAC gnomAD
rs865814449 CA90748349	909	V>A		No	ClinGen TOPMed
rs865814449 CA90748358	909	V>G		No	ClinGen TOPMed
rs367967764 CA355563726	909	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs367967764 CA2775809	909	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs773572136 CA2775807	910	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs763435087 CA2775808	910	R>W		No	ClinGen ExAC gnomAD
CA355563703 rs1174357222	911	P>L		No	ClinGen TOPMed
CA2775805 rs761756559	912	M>T		No	ClinGen ExAC gnomAD
rs1468955097 CA355563680	913	P>L		No	ClinGen TOPMed
rs1469088086 CA355563672	914	Q>*		No	ClinGen gnomAD
rs1576984536 CA355563668	914	Q>P		No	ClinGen Ensembl
CA355563646 rs1427970272	916	A>V		No	ClinGen TOPMed
rs537763720 CA2775802	919	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1289594472 CA355563609	919	P>L		No	ClinGen gnomAD
rs537763720 CA2775801	919	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA355563608 rs1317734706	920	K>Q		No	ClinGen gnomAD
CA355563576 rs1449879950	922	N>S		No	ClinGen TOPMed gnomAD
CA355563577 rs1449879950	922	N>T		No	ClinGen TOPMed gnomAD
rs1281120090 CA355563567	923	F>L		No	ClinGen TOPMed
CA90748265 rs953766393	923	F>L		No	ClinGen Ensembl
rs1322623859 CA355563547	924	S>F		No	ClinGen TOPMed
rs777535887 CA2775795	925	T>I		No	ClinGen ExAC TOPMed gnomAD
rs1553902307 CA2775796	925	T>S		No	ClinGen Ensembl
rs752094998 CA2775793	926	N>K		No	ClinGen ExAC gnomAD
rs756101819 CA2775794	926	N>T		No	ClinGen ExAC TOPMed gnomAD
rs370771381 CA2775792	927	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA90748227 rs111695615	928	S>N		No	ClinGen Ensembl
CA355563457 rs1487123226	929	N>K		No	ClinGen TOPMed
rs751199844 CA2775790	933	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs376634615 CA2775791	933	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs766070915 CA2775789	934	P>S		No	ClinGen ExAC TOPMed gnomAD
CA355563351 rs1399341865	935	P>L		No	ClinGen gnomAD
CA2775788 rs758660418	936	P>S		No	ClinGen ExAC TOPMed gnomAD
CA355563326 rs1576984090	937	P>A		No	ClinGen Ensembl
CA2775787 COSM1268225 COSM1268227 rs750829725 COSM1268226	937	P>L	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA90748177 rs1005041076	939	A>T		No	ClinGen gnomAD
CA355563286 rs1260343240	940	T>A		No	ClinGen gnomAD
rs886520739 CA90748171	940	T>S		No	ClinGen TOPMed
CA355563228 rs1264701555	942	R>Q		No	ClinGen TOPMed gnomAD
rs371220744 CA2775785	942	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA355563187 rs1373597201	944	P>S		No	ClinGen gnomAD
rs1285027597 CA355563143	946	R>T		No	ClinGen TOPMed
rs1344798371 CA355563153	946	R>W		No	ClinGen TOPMed gnomAD
CA90748142 rs930623998	947	G>D		No	ClinGen TOPMed gnomAD
CA90748140 rs930623998	947	G>V		No	ClinGen TOPMed gnomAD
rs1383391131 CA355563069	948	C>F		No	ClinGen gnomAD
rs1383391131 CA355563075	948	C>Y		No	ClinGen gnomAD
CA355563065 rs1287952824	949	P>T		No	ClinGen gnomAD
CA355563016 rs1408770766	950	G>D		No	ClinGen gnomAD
rs1428129011 CA355563022	950	G>R		No	ClinGen gnomAD
CA355563008 rs764262169	951	D>H		No	ClinGen ExAC TOPMed gnomAD
CA2775783 rs764262169	951	D>N		No	ClinGen ExAC TOPMed gnomAD
rs760891753 CA2775782	952	G>R		No	ClinGen ExAC TOPMed gnomAD
rs775830823 CA2775781	953	P>L		No	ClinGen ExAC gnomAD
CA90748098 rs895168318	955	A>T		No	ClinGen gnomAD
rs772461175 CA2775780	955	A>V		No	ClinGen ExAC TOPMed gnomAD
CA2775778 rs773077514	956	G>D		No	ClinGen ExAC gnomAD
CA2775775 rs377754629	957	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2775776 rs748112786	957	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2775774 rs754464002	958	P>L		No	ClinGen ExAC gnomAD
CA355562831 rs1307569152	959	A>T		No	ClinGen gnomAD
CA355562818 rs1419391452	960	D>N		No	ClinGen gnomAD
rs1161153072 CA355562803	960	D>V		No	ClinGen TOPMed
rs201293924 CA2775771	961	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779640119 CA2775772	961	K>R		No	ClinGen ExAC gnomAD
rs750695335 CA2775770	963	Q>*		No	ClinGen ExAC gnomAD
CA2775769 rs765638177	964	M>V		No	ClinGen ExAC gnomAD
CA355562535 rs1560467055	965	A>D		No	ClinGen Ensembl
CA355562536 rs1262936305	965	A>S		No	ClinGen gnomAD
CA2775739 rs1560467055	965	A>V		No	ClinGen Ensembl
RCV000413786 rs202132773 CA2775736	966	M>L		No	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
CA2775737 rs202132773	966	M>V		No	ClinGen 1000Genomes TOPMed gnomAD
CA355562449 rs1335493016	968	H>Y		No	ClinGen gnomAD
CA355562327 rs1302610316	974	E>Q		No	ClinGen gnomAD
CA355562308 rs1458834659	975	C>R		No	ClinGen TOPMed
CA355562260 rs1160139215	976	Q>H		No	ClinGen gnomAD
rs768521543 CA2775733	976	Q>L		No	ClinGen ExAC gnomAD
rs775356328 CA2775732	978	A>V		No	ClinGen ExAC gnomAD
rs771593431 CA2775730	980	Q>R		No	ClinGen ExAC gnomAD
rs1198062476 CA355562116	982	H>R		No	ClinGen gnomAD
CA2775728 rs778594314	983	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1205311651 CA355562057	984	W>C		No	ClinGen gnomAD
rs143348369 CA2775727	985	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA2775725 rs552586640	986	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2775724 rs552586640	986	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753247115 CA2775723	987	Q>*		No	ClinGen ExAC TOPMed gnomAD
rs781598977 CA2775722	989	A>T		No	ClinGen ExAC gnomAD
CA2775721 rs755055610	989	A>V		No	ClinGen ExAC gnomAD
rs1381801081 CA355561954	990	A>T		No	ClinGen gnomAD
CA2775720 rs149178487	990	A>V		No	ClinGen ESP ExAC gnomAD
rs1156671788 CA355561917	991	Q>*		No	ClinGen gnomAD
rs1165092572 CA355561710	995	V>E		No	ClinGen gnomAD
rs1368121107 CA355561716	995	V>M		No	ClinGen gnomAD
rs1385068962 CA355561014	998	L>V		No	ClinGen gnomAD
CA355560976 rs766460454	999	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2775672 rs762513209	1000	G>R		No	ClinGen ExAC TOPMed gnomAD
CA2775670 rs764926717	1002	G>C		No	ClinGen ExAC TOPMed gnomAD
CA2775669 rs761374258	1002	G>V		No	ClinGen ExAC gnomAD
rs899560469 CA355560849	1004	R>L		No	ClinGen TOPMed gnomAD
CA90746160 rs899560469	1004	R>P		No	ClinGen TOPMed gnomAD
rs899560469 CA90746157	1004	R>Q		No	ClinGen TOPMed gnomAD
COSM1537365 rs761146719 COSM1537367 CA2775666 COSM1537366	1004	R>W	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs775944089 CA2775665	1005	P>R		No	ClinGen ExAC TOPMed gnomAD
rs745898054 CA2775663	1006	R>T		No	ClinGen ExAC TOPMed gnomAD
rs1244600380 CA355560793	1007	G>R		No	ClinGen TOPMed
CA2775662 rs778975686	1007	G>V		No	ClinGen ExAC gnomAD
rs771110943 CA2775661	1008	E>V		No	ClinGen ExAC gnomAD
CA355560718 rs1163181869	1010	H>Y		No	ClinGen gnomAD
CA355560663 rs1402831488	1012	V>M		No	ClinGen gnomAD
rs1323410135 CA355560609	1014	E>Q		No	ClinGen TOPMed
CA90746128 rs1024580193	1015	M>I		No	ClinGen TOPMed gnomAD
CA2775659 rs145862992	1016	F>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201887578 CA2775657	1017	D>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2775658 rs201887578	1017	D>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1490261283 CA355560487	1019	N>D		No	ClinGen gnomAD
rs1245221490 CA355560464	1020	L>V		No	ClinGen gnomAD
CA355560407 rs1318510950	1022	Q>K		No	ClinGen gnomAD
CA355560379 rs1284628974	1023	A>T		No	ClinGen gnomAD
rs749888511 CA2775654	1024	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1284694744 CA355560322	1025	C>G		No	ClinGen gnomAD
CA355560281 rs1405007818	1026	H>P		No	ClinGen gnomAD
CA2775653 rs764645856	1027	L>F		No	ClinGen ExAC gnomAD
CA90746030 rs866954304	1029	G>V		No	ClinGen Ensembl
rs761441151 CA2775650	1030	S>F		No	ClinGen ExAC gnomAD
rs540682153 CA2775649	1031	W>*		No	ClinGen ExAC TOPMed gnomAD
rs540682153 CA355560184	1031	W>C		No	ClinGen ExAC TOPMed gnomAD
CA355560178 rs1158827809	1032	G>D		No	ClinGen gnomAD
CA2775647 rs760907638	1034	A>V		No	ClinGen ExAC TOPMed gnomAD
CA355560113 rs1172460551	1035	H>R		No	ClinGen TOPMed
rs772508792 CA2775645	1035	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1480166810 CA355560099	1036	H>D		No	ClinGen gnomAD
CA2775644 rs140707536	1036	H>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs774898780 CA2775643	1036	H>Q		No	ClinGen ExAC gnomAD
CA355560086 rs140707536	1036	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1486311637 CA355560065	1037	K>R		No	ClinGen TOPMed gnomAD
CA2775618 rs201461833	1038	R>C		No	ClinGen ExAC TOPMed gnomAD
rs13433937 RCV002058202 VAR_032802 RCV000250824 CA2775617	1038	R>H		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD

No associated diseases with Q07912

9 regional properties for Q07912

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	126 - 385	IPR000719
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	126 - 385	IPR001245
domain	SH3 domain	388 - 448	IPR001452
active_site	Tyrosine-protein kinase, active site	248 - 260	IPR008266
domain	Cdc42 binding domain-like	450 - 513	IPR015116
binding_site	Protein kinase, ATP binding site	132 - 158	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	126 - 385	IPR020635
domain	Mig-6 domain	774 - 839	IPR021619
domain	Activated CDC42 kinase 1, UBA domain	958 - 1002	IPR030220

Functions

		Description
EC Number	2.7.10.2	Protein-tyrosine kinases
Subcellular Localization	Cell membrane Nucleus Endosome Cell junction, adherens junction Cytoplasmic vesicle membrane; Peripheral membrane protein; Cytoplasmic side Cytoplasmic vesicle, clathrin-coated vesicle Membrane, clathrin-coated pit Cytoplasm, perinuclear region Cytoplasm, cytosol	The Tyr-284 phosphorylated form is found both in the membrane and nucleus (By similarity) Co-localizes with EGFR on endosomes (PubMed:20333297) Nuclear translocation is CDC42-dependent (By similarity) Detected in long filamentous cytosolic structures where it co-localizes with CTPS1 (By similarity)
PANTHER Family	PTHR14254	GENE 33 POLYPEPTIDE
PANTHER Subfamily	PTHR14254:SF6	NON-SPECIFIC PROTEIN-TYROSINE KINASE
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

14 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.
clathrin-coated pit	A part of the endomembrane system in the form of an invagination of a membrane upon which a clathrin coat forms, and that can be converted by vesicle budding into a clathrin-coated vesicle. Coated pits form on the plasma membrane, where they are involved in receptor-mediated selective transport of many proteins and other macromolecules across the cell membrane, in the trans-Golgi network, and on some endosomes.
clathrin-coated vesicle	A vesicle with a coat formed of clathrin connected to the membrane via one of the clathrin adaptor complexes.
cytoophidium	A subcellular filamentary structure where CTP synthase is compartmentalized in a range of organisms including bacteria, yeast, fruit fly, rat and human.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytoplasmic vesicle membrane	The lipid bilayer surrounding a cytoplasmic vesicle.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
endosome	A vacuole to which materials ingested by endocytosis are delivered.
extrinsic component of cytoplasmic side of plasma membrane	The component of a plasma membrane consisting of gene products and protein complexes that are loosely bound to its cytoplasmic surface, but not integrated into the hydrophobic region.
Grb2-EGFR complex	A protein complex that contains the epidermal growth factor receptor (EGFR) and Grb2, and is involved in linking EGFR activation to the p21-Ras pathway.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
perinuclear region of cytoplasm	Cytoplasm situated near, or occurring around, the nucleus.
plasma membrane	The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.

13 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
epidermal growth factor receptor binding	Binding to an epidermal growth factor receptor.
GTPase inhibitor activity	Stops, prevents or reduces the activity of any enzyme that catalyzes the hydrolysis of GTP to GDP and orthophosphate.
identical protein binding	Binding to an identical protein or proteins.
metal ion binding	Binding to a metal ion.
non-membrane spanning protein tyrosine kinase activity	Catalysis of the reaction: ATP + protein L-tyrosine = ADP + protein L-tyrosine phosphate by a non-membrane spanning protein.
protein serine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate.
protein serine/threonine kinase activity	Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate.
protein serine/threonine/tyrosine kinase activity	Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; ATP + a protein threonine = ADP + protein threonine phosphate; and ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
protein tyrosine kinase activity	Catalysis of the reaction: ATP + a protein tyrosine = ADP + protein tyrosine phosphate.
signaling receptor binding	Binding to one or more specific sites on a receptor molecule, a macromolecule that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.
ubiquitin protein ligase binding	Binding to a ubiquitin protein ligase enzyme, any of the E3 proteins.
WW domain binding	Binding to a WW domain of a protein, a small module composed of 40 amino acids and plays a role in mediating protein-protein interactions via proline-rich regions.

9 GO annotations of biological process

Name	Definition
cell differentiation	The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
cell surface receptor signaling pathway	The series of molecular signals initiated by activation of a receptor on the surface of a cell. The pathway begins with binding of an extracellular ligand to a cell surface receptor, or for receptors that signal in the absence of a ligand, by ligand-withdrawal or the activity of a constitutively active receptor. The pathway ends with regulation of a downstream cellular process, e.g. transcription.
endocytosis	A vesicle-mediated transport process in which cells take up external materials or membrane constituents by the invagination of a small region of the plasma membrane to form a new membrane-bounded vesicle.
innate immune response	Innate immune responses are defense responses mediated by germline encoded components that directly recognize components of potential pathogens.
phosphorylation	The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of peptidyl-tyrosine phosphorylation	Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
regulation of clathrin-dependent endocytosis	Any process that modulates the frequency, rate or extent of clathrin-mediated endocytosis.
small GTPase mediated signal transduction	The series of molecular signals in which a small monomeric GTPase relays a signal.
transmembrane receptor protein tyrosine kinase signaling pathway	The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

29 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q17R13	TNK2	Activated CDC42 kinase 1	Bos taurus (Bovine)	SS
P43405	SYK	Tyrosine-protein kinase SYK	Homo sapiens (Human)	EV
P43403	ZAP70	Tyrosine-protein kinase ZAP-70	Homo sapiens (Human)	EV
Q13882	PTK6	Protein-tyrosine kinase 6	Homo sapiens (Human)	EV
P09769	FGR	Tyrosine-protein kinase Fgr	Homo sapiens (Human)	SS
P07948	LYN	Tyrosine-protein kinase Lyn	Homo sapiens (Human)	SS
P06241	FYN	Tyrosine-protein kinase Fyn	Homo sapiens (Human)	SS
P12931	SRC	Proto-oncogene tyrosine-protein kinase Src	Homo sapiens (Human)	EV
P06239	LCK	Tyrosine-protein kinase Lck	Homo sapiens (Human)	EV
P51451	BLK	Tyrosine-protein kinase Blk	Homo sapiens (Human)	SS
P08631	HCK	Tyrosine-protein kinase HCK	Homo sapiens (Human)	EV
P07947	YES1	Tyrosine-protein kinase Yes	Homo sapiens (Human)	SS
P42685	FRK	Tyrosine-protein kinase FRK	Homo sapiens (Human)	EV
Q08881	ITK	Tyrosine-protein kinase ITK/TSK	Homo sapiens (Human)	EV
Q06187	BTK	Tyrosine-protein kinase BTK	Homo sapiens (Human)	EV
P51813	BMX	Cytoplasmic tyrosine-protein kinase BMX	Homo sapiens (Human)	SS
P42680	TEC	Tyrosine-protein kinase Tec	Homo sapiens (Human)	SS
P42679	MATK	Megakaryocyte-associated tyrosine-protein kinase	Homo sapiens (Human)	SS
P41240	CSK	Tyrosine-protein kinase CSK	Homo sapiens (Human)	SS
Q14289	PTK2B	Protein-tyrosine kinase 2-beta	Homo sapiens (Human)	PR
Q05397	PTK2	Focal adhesion kinase 1	Homo sapiens (Human)	EV
Q13470	TNK1	Non-receptor tyrosine-protein kinase TNK1	Homo sapiens (Human)	PR
P16591	FER	Tyrosine-protein kinase Fer	Homo sapiens (Human)	PR
Q6J9G0	STYK1	Tyrosine-protein kinase STYK1	Homo sapiens (Human)	PR
P42684	ABL2	Tyrosine-protein kinase ABL2	Homo sapiens (Human)	SS
P00519	ABL1	Tyrosine-protein kinase ABL1	Homo sapiens (Human)	EV
Q99ML2	Tnk1	Non-receptor tyrosine-protein kinase TNK1	Mus musculus (Mouse)	PR
O54967	Tnk2	Activated CDC42 kinase 1	Mus musculus (Mouse)	SS
Q5U2X5	Tnk2	Activated CDC42 kinase 1	Rattus norvegicus (Rat)	SS

10	20	30	40	50	60
MQPEEGTGWL	LELLSEVQLQ	QYFLRLRDDL	NVTRLSHFEY	VKNEDLEKIG	MGRPGQRRLW
70	80	90	100	110	120
EAVKRRKALC	KRKSWMSKVF	SGKRLEAEFP	PHHSQSTFRK	TSPAPGGPAG	EGPLQSLTCL
130	140	150	160	170	180
IGEKDLRLLE	KLGDGSFGVV	RRGEWDAPSG	KTVSVAVKCL	KPDVLSQPEA	MDDFIREVNA
190	200	210	220	230	240
MHSLDHRNLI	RLYGVVLTPP	MKMVTELAPL	GSLLDRLRKH	QGHFLLGTLS	RYAVQVAEGM
250	260	270	280	290	300
GYLESKRFIH	RDLAARNLLL	ATRDLVKIGD	FGLMRALPQN	DDHYVMQEHR	KVPFAWCAPE
310	320	330	340	350	360
SLKTRTFSHA	SDTWMFGVTL	WEMFTYGQEP	WIGLNGSQIL	HKIDKEGERL	PRPEDCPQDI
370	380	390	400	410	420
YNVMVQCWAH	KPEDRPTFVA	LRDFLLEAQP	TDMRALQDFE	EPDKLHIQMN	DVITVIEGRA
430	440	450	460	470	480
ENYWWRGQNT	RTLCVGPFPR	NVVTSVAGLS	AQDISQPLQN	SFIHTGHGDS	DPRHCWGFPD
490	500	510	520	530	540
RIDELYLGNP	MDPPDLLSVE	LSTSRPPQHL	GGVKKPTYDP	VSEDQDPLSS	DFKRLGLRKP
550	560	570	580	590	600
GLPRGLWLAK	PSARVPGTKA	SRGSGAEVTL	IDFGEEPVVP	ALRPCAPSLA	QLAMDACSLL
610	620	630	640	650	660
DETPPQSPTR	ALPRPLHPTP	VVDWDARPLP	PPPAYDDVAQ	DEDDFEICSI	NSTLVGAGVP
670	680	690	700	710	720
AGPSQGQTNY	AFVPEQARPP	PPLEDNLFLP	PQGGGKPPSS	AQTAEIFQAL	QQECMRQLQA
730	740	750	760	770	780
PAGSPAPSPS	PGGDDKPQVP	PRVPIPPRPT	RPHVQLSPAP	PGEEETSQWP	GPASPPRVPP
790	800	810	820	830	840
REPLSPQGSR	TPSPLVPPGS	SPLPPRLSSS	PGKTMPTTQS	FASDPKYATP	QVIQAPGPRA
850	860	870	880	890	900
GPCILPIVRD	GKKVSSTHYY	LLPERPSYLE	RYQRFLREAQ	SPEEPTPLPV	PLLLPPPSTP
910	920	930	940	950	960
APAAPTATVR	PMPQAALDPK	ANFSTNNSNP	GARPPPPRAT	ARLPQRGCPG	DGPEAGRPAD
970	980	990	1000	1010	1020
KIQMAMVHGV	TTEECQAALQ	CHGWSVQRAA	QYLKVEQLFG	LGLRPRGECH	KVLEMFDWNL
1030
EQAGCHLLGS	WGPAHHKR