AiPD: Autoinhibited Protein Database

Q96RG2

Gene name	PASK (KIAA0135)
Protein name	PAS domain-containing serine/threonine-protein kinase
Names	PAS-kinase, PASKIN, hPASK
Species	Homo sapiens (Human)
KEGG Pathway	hsa:23178
EC number	2.7.11.1: Protein-serine/threonine kinases
Protein Class	MAP/MICROTUBULE AFFINITY-REGULATING KINASE (PTHR24346)

Descriptions

PASK is PAS (Per-Arnt-Sim) domain-containing serine/threonine-protein kinase and is involved in energy homeostasis and regulation of protein synthesis. The N-terminal domain (PAS-A) directly inhibits its kinase domain, specifically the FG loop at residues 185-194. The FG loop directly binds the kinase domain, thus inhibiting its kinase activity. The binding of organic compounds to the hydrophobic core of PAS-A induces conformational changes and relieves the inhibition.

Autoinhibitory domains (AIDs)

Target domain	950-1323 (Kinase domain)
Relief mechanism	Ligand binding
Assay	Mutagenesis experiment, Structural analysis

AID

185-194 (The FG loop of the PAS-A domain)

Target domain

950-1323 (Kinase domain)

Relief mechanism

Ligand binding (Binding of organic compounds to regulatory region)

Assay

Mutagenesis experiment, Structural analysis

Accessory elements

1145-1167 (Activation loop from InterPro)

Target domain	999-1251 (Protein kinase domain)
Relief mechanism
Assay

References

Amezcua CA et al. (2002) "Structure and interactions of PAS kinase N-terminal PAS domain: model for intramolecular kinase regulation", Structure (London, England : 1993), 10, 1349-61

Rutter J et al. (2001) "PAS kinase: an evolutionarily conserved PAS domain-regulated serine/threonine kinase", Proceedings of the National Academy of Sciences of the United States of America, 98, 8991-6

Autoinhibited structure

Activated structure

3 structures for Q96RG2

Entry ID	Method	Resolution	Chain	Position	Source
1LL8	NMR	-	A	131-237	PDB
3DLS	X-ray	230 A	A/B/C/D/E/F	977-1300	PDB
AF-Q96RG2-F1	Predicted				AlphaFoldDB

1129 variants for Q96RG2

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs767271662 CA2213863	4	G>R		No	ClinGen ExAC TOPMed gnomAD
rs767271662 CA351360936	4	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1341883398 CA351360923	5	G>D		No	ClinGen TOPMed
rs761714947 CA2213862	7	T>I		No	ClinGen ExAC gnomAD
rs762800336 CA2213858	9	F>L		No	ClinGen ExAC gnomAD
COSM21070 CA351360864 rs1277219458 VAR_040986	11	E>K	a metastatic melanoma sample; somatic mutation skin [UniProt, Cosmic]	No	ClinGen cosmic curated UniProt TOPMed dbSNP
CA2213856 rs765429010	12	D>N		No	ClinGen ExAC TOPMed gnomAD
rs973892297 CA68225449	13	Q>H		No	ClinGen TOPMed
CA2213855 rs759790683	14	R>K		No	ClinGen ExAC gnomAD
CA351360817 rs1489062327	15	C>Y		No	ClinGen gnomAD
rs777032152 CA2213854	16	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2213853 rs371304253	17	S>F		No	ClinGen ESP ExAC
rs1575343704 CA351360783	18	Q>H		No	ClinGen Ensembl
rs6709619 CA2213852	18	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1222967601 CA351360777	19	S>C		No	ClinGen TOPMed gnomAD
CA2213851 rs367813291	20	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA351360762 rs1247083089	21	P>T		No	ClinGen gnomAD
CA2213850 rs772573669	22	L>*		No	ClinGen ExAC gnomAD
CA351360706 rs1403487526	27	E>A		No	ClinGen TOPMed
rs1403487526 CA351360705	27	E>G		No	ClinGen TOPMed
CA351360711 rs1421429296	27	E>K		No	ClinGen TOPMed
CA2213847 rs755664624	28	G>S		No	ClinGen ExAC gnomAD
CA2213843 rs751298156	31	A>P		No	ClinGen ExAC TOPMed gnomAD
rs751298156 CA351360673	31	A>S		No	ClinGen ExAC TOPMed gnomAD
CA351360666 rs1349921758	32	Q>*		No	ClinGen TOPMed
rs763806405 CA2213842	32	Q>H		No	ClinGen ExAC gnomAD
CA351360648 rs1433089910	34	T>A		No	ClinGen TOPMed gnomAD
CA351360645 rs1373310444	34	T>I		No	ClinGen gnomAD
rs752711792 CA2213840	35	A>P		No	ClinGen ExAC gnomAD
CA2213839 rs765374524	40	S>L		No	ClinGen ExAC TOPMed gnomAD
rs776991168 CA2213837	41	F>S		No	ClinGen ExAC gnomAD
rs1253232369 CA351360564	42	S>F		No	ClinGen TOPMed gnomAD
CA2213836 rs766557272	42	S>T		No	ClinGen ExAC gnomAD
CA68225377 rs1043445239	44	A>S		No	ClinGen Ensembl
CA351360540 rs1190167316	45	H>L		No	ClinGen gnomAD
CA2213835 rs371648413	46	R>S		No	ClinGen ESP ExAC gnomAD
rs1234551095 CA351360527	47	H>Y		No	ClinGen gnomAD
rs1416345788 CA351360512	48	L>R		No	ClinGen gnomAD
CA2213833 rs773581075	50	R>G		No	ClinGen ExAC gnomAD
CA68225366 rs1011658675	51	R>K		No	ClinGen Ensembl
rs1272146553 CA351360463	53	G>E		No	ClinGen gnomAD
CA2213832 rs772357308	54	L>F		No	ClinGen ExAC TOPMed gnomAD
CA351360436 rs1323566938	56	R>S		No	ClinGen TOPMed
rs140584638 CA2213830	59	Q>*		No	ClinGen ESP ExAC
CA351360404 rs1386335177	59	Q>H		No	ClinGen gnomAD
CA2213829 rs769277970	61	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2213828 rs144572631 COSM298244 COSM298243	62	T>I	kidney large_intestine urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA351360367 rs756873070	63	A>G		No	ClinGen ExAC TOPMed
rs756873070 CA2213826	63	A>V		No	ClinGen ExAC TOPMed
rs1559401740 CA351360361	64	L>F		No	ClinGen Ensembl
rs777583685 CA2213824	65	S>P		No	ClinGen ExAC TOPMed gnomAD
rs1312538176 CA351359581	66	E>G		No	ClinGen gnomAD
rs753861631 CA2213800	70	S>N		No	ClinGen ExAC gnomAD
CA2213798 RCV000974959 rs148125949	71	S>F		No	ClinGen ClinVar 1000Genomes ESP TOPMed dbSNP gnomAD
CA2213797 rs780155337	72	Y>H		No	ClinGen ExAC gnomAD
CA68223838 rs369219690	76	S>*		No	ClinGen Ensembl
rs1026221667 CA68223829	79	A>T		No	ClinGen TOPMed
CA351359362 rs1367813833	83	C>R		No	ClinGen gnomAD
CA351359363 rs1367813833	83	C>S		No	ClinGen gnomAD
CA2213792 rs200411100	83	C>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs375444737 CA2213790	84	T>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213789 rs375444737	84	T>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs375444737 CA351359341	84	T>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1266251495 CA351359296	88	H>R		No	ClinGen gnomAD
rs1559399263 CA351359275	89	C>F		No	ClinGen Ensembl
rs1265345346 CA351359232	92	A>G		No	ClinGen gnomAD
CA2213787 rs146184812	92	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs534656298 CA2213786	93	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs534656298 CA2213785	93	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs747825731 CA2213784	94	E>A		No	ClinGen ExAC gnomAD
rs778811482 CA2213782	96	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2213780 rs749231115	98	P>L		No	ClinGen ExAC TOPMed gnomAD
CA351359129 rs749231115	98	P>R		No	ClinGen ExAC TOPMed gnomAD
COSM1018863 CA2213777 rs199606444 COSM1018864	100	E>K	endometrium prostate [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs781260193 CA2213776	101	P>L		No	ClinGen ExAC gnomAD
rs372983773 CA68223736	102	R>Q		No	ClinGen ESP TOPMed gnomAD
rs751807232 CA2213774	102	R>W		No	ClinGen ExAC TOPMed gnomAD
CA2213772 rs377528813	103	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213771 rs377528813	103	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA351359022 rs570276350	104	S>R		No	ClinGen 1000Genomes gnomAD
CA351358981 rs1267301152	107	C>F		No	ClinGen gnomAD
CA351358962 rs1344764319	108	C>F		No	ClinGen gnomAD
rs1208536697 CA351358970	108	C>R		No	ClinGen TOPMed gnomAD
rs1275726904 CA351358953	109	S>C		No	ClinGen gnomAD
rs548770002 CA2213770	112	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351358919 rs1233368699	113	G>A		No	ClinGen gnomAD
CA351358922 rs1233368699	113	G>E		No	ClinGen gnomAD
rs1276226921 CA351358927	113	G>R		No	ClinGen gnomAD
CA351358862 rs1329961737	117	G>R		No	ClinGen TOPMed gnomAD
rs1393000821 CA351358822	119	S>P		No	ClinGen gnomAD
rs772548362 CA2213768	122	L>P		No	ClinGen ExAC gnomAD
CA2213767 rs767167976	123	L>F		No	ClinGen ExAC gnomAD
CA351358765 rs1427550443	123	L>R		No	ClinGen gnomAD
rs970393882 CA68223674	124	P>L		No	ClinGen TOPMed
rs1333811894 CA351358749	124	P>S		No	ClinGen gnomAD
rs749108005 CA2213763	125	A>D		No	ClinGen ExAC TOPMed gnomAD
rs201151513 CA2213764	125	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2213761 rs769557555	127	V>L		No	ClinGen ExAC TOPMed
CA2213762 rs769557555	127	V>L		No	ClinGen ExAC TOPMed
rs541156371 CA2213760	129	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA68223656 rs148143770	129	N>S		No	ClinGen ESP TOPMed gnomAD
rs1462182311 CA351358627	132	K>E		No	ClinGen TOPMed
CA351358608 rs1169119445	133	A>V		No	ClinGen gnomAD
rs1280332865 CA351358602	134	I>V		No	ClinGen TOPMed gnomAD
rs149007060 CA2213757	136	T>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2213756 rs146901373	136	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA351358515 rs765658424	138	D>G		No	ClinGen ExAC TOPMed gnomAD
rs752947531 CA2213754	138	D>N		No	ClinGen ExAC gnomAD
CA2213753 rs765658424	138	D>V		No	ClinGen ExAC TOPMed gnomAD
CA2213752 rs755400071	139	A>V		No	ClinGen ExAC gnomAD
CA2213751 rs754437014	140	K>R		No	ClinGen ExAC gnomAD
CA2213750 rs767116928	142	T>A		No	ClinGen ExAC gnomAD
CA351358419 rs1415197969	142	T>R		No	ClinGen gnomAD
rs780775907 CA2213733	145	L>V		No	ClinGen ExAC gnomAD
CA2213730 rs763680309	147	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1303972970 CA351358135	149	D>N		No	ClinGen gnomAD
rs372276485 CA2213728	149	D>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1180994248 CA351358077	153	G>E		No	ClinGen TOPMed
CA2213726 rs759434203	153	G>R		No	ClinGen ExAC TOPMed gnomAD
CA351358070 rs1414962258	154	L>H		No	ClinGen TOPMed
rs776544055 CA2213725	156	G>A		No	ClinGen ExAC gnomAD
CA68223217 rs111253891	156	G>R		No	ClinGen Ensembl
CA68223208 rs563285359	158	S>G		No	ClinGen 1000Genomes TOPMed gnomAD
CA351358040 rs563285359	158	S>R		No	ClinGen 1000Genomes TOPMed gnomAD
CA351358007 rs1313193012	160	Q>H		No	ClinGen gnomAD
rs1575334479 CA351357998	161	D>G		No	ClinGen Ensembl
CA351357984 rs1366182144	162	L>P		No	ClinGen gnomAD
CA68223191 rs146285779	163	I>M		No	ClinGen ESP TOPMed gnomAD
rs200170758 CA68223200	163	I>T		No	ClinGen TOPMed
CA68223203 rs1057184817	163	I>V		No	ClinGen TOPMed
rs202240278 CA2213722	165	Q>*		No	ClinGen ESP ExAC TOPMed
rs373907266 CA2213720	166	K>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA351357927 rs200237047	167	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA2213719 rs200237047	167	L>I		No	ClinGen 1000Genomes ExAC gnomAD
CA2213717 rs370920141	168	T>M		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA351357901 rs1304632897	169	Q>H		No	ClinGen TOPMed
rs1229781206 CA351357905	169	Q>R		No	ClinGen TOPMed
CA351357869 rs1380598876	172	L>M		No	ClinGen TOPMed gnomAD
CA68223170 rs915078036	176	S>C		No	ClinGen TOPMed
CA2213714 rs750997125	177	D>E		No	ClinGen ExAC gnomAD
rs777111708 CA2213713	178	V>M		No	ClinGen ExAC
CA2213712 rs192087715	179	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759191603 CA2213708	182	L>F		No	ClinGen ExAC gnomAD
COSM574398 rs376133084 CA2213707 COSM574399	183	S>R	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2213705 rs374134139	184	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213704 rs374134139	184	E>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs772035971 CA2213703	186	H>Y		No	ClinGen ExAC gnomAD
rs762023707 CA2213702	187	M>V		No	ClinGen ExAC TOPMed gnomAD
rs780524189 CA2213698	191	G>S		No	ClinGen ExAC TOPMed gnomAD
rs149488988 CA2213697	192	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs781751338 CA2213695	193	A>T		No	ClinGen ExAC TOPMed gnomAD
rs976411724 CA68223017	194	A>E		No	ClinGen TOPMed gnomAD
rs757842510 CA2213694	194	A>S		No	ClinGen ExAC TOPMed gnomAD
CA351357567 rs976411724	194	A>V		No	ClinGen TOPMed gnomAD
rs1167827414 CA351357555	195	V>L		No	ClinGen gnomAD
rs754586924 CA2213691	197	F>L		No	ClinGen ExAC TOPMed gnomAD
CA2213692 rs754586924	197	F>V		No	ClinGen ExAC TOPMed gnomAD
CA2213690 rs753531286	199	T>M		No	ClinGen ExAC gnomAD
CA351356908 rs369472153	201	V>L		No	ClinGen ESP ExAC gnomAD
rs369472153 CA2213664	201	V>M		No	ClinGen ESP ExAC gnomAD
rs532393560 CA2213663	204	I>V		No	ClinGen 1000Genomes ExAC gnomAD
CA2213662 rs759690530	206	R>C		No	ClinGen ExAC TOPMed gnomAD
rs150458539 CA2213660	206	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs150458539 CA2213661	206	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs773767726 CA2213657	208	G>E		No	ClinGen ExAC TOPMed gnomAD
CA68222084 rs916067164	208	G>R		No	ClinGen TOPMed gnomAD
rs768151280 CA2213656	211	I>S		No	ClinGen ExAC gnomAD
rs1212081748 CA351356639	212	P>A		No	ClinGen TOPMed gnomAD
CA2213654 rs142624414	213	V>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs565024984 CA2213653	217	M>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1297850202 CA351356404	218	K>R		No	ClinGen gnomAD
rs1227061149 CA351356375	220	M>V		No	ClinGen gnomAD
rs143641186 CA2213651	221	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2213652 COSM3743723 COSM3743724 rs377417785	221	R>W	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC gnomAD
CA2213650 rs757047840	223	E>G		No	ClinGen ExAC gnomAD
rs145741558 COSM72078 CA2213649	224	R>C	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs777921319 CA2213648	224	R>H		No	ClinGen ExAC gnomAD
rs372849391 CA2213647	225	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs139355972 COSM1018861 COSM1018862 CA2213646	225	R>H	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA68222000 rs1029774843	227	C>R		No	ClinGen Ensembl
CA351356131 rs1332606116	229	V>M		No	ClinGen TOPMed
CA2213642 rs766753361	230	V>M		No	ClinGen ExAC gnomAD
rs1268762868 CA351356104	231	V>I		No	ClinGen gnomAD
rs1274951949 CA351355991	235	V>A		No	ClinGen gnomAD
rs773573059 CA2213640	235	V>M		No	ClinGen ExAC gnomAD
CA68221972 rs1031356023	236	E>G		No	ClinGen TOPMed gnomAD
CA351355933 rs1337024634	237	R>K		No	ClinGen gnomAD
CA351355929 rs1239485614	237	R>S		No	ClinGen TOPMed
rs772512917 CA351355926	238	V>F		No	ClinGen ExAC TOPMed gnomAD
CA2213639 rs772512917	238	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2213638 rs61733883 RCV000909360	239	S>L		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs745508457 CA2213634	241	W>*		No	ClinGen ExAC gnomAD
rs769223842 CA2213635	241	W>*		No	ClinGen ExAC gnomAD
CA2213633 rs780763956	243	A>T		No	ClinGen ExAC TOPMed gnomAD
CA2213632 rs770752947	243	A>V		No	ClinGen ExAC gnomAD
rs746732655 CA2213631	245	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs758361460 CA2213629	247	D>A		No	ClinGen ExAC gnomAD
rs752711772 CA2213628	247	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1429234384 CA351355731	247	D>Y		No	ClinGen gnomAD
rs1283539069 CA351355570	248	G>D		No	ClinGen TOPMed
rs1222582964 CA351355574	248	G>S		No	ClinGen TOPMed
rs1470414 VAR_028293 CA2213601	250	V>I		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2213600 rs771542461	251	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2213598 rs764439031	253	C>R		No	ClinGen ExAC gnomAD
rs764439031 CA351355490	253	C>S		No	ClinGen ExAC gnomAD
CA2213597 rs763527303	253	C>Y		No	ClinGen ExAC gnomAD
rs775953047 CA2213596	255	S>G		No	ClinGen ExAC gnomAD
rs144120874 CA351355444	255	S>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2213595 rs144120874	255	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1200335134 CA351355440	256	L>I		No	ClinGen TOPMed
rs773058115 CA351355399	259	H>N		No	ClinGen ExAC TOPMed gnomAD
rs773058115 CA2213593	259	H>Y		No	ClinGen ExAC TOPMed gnomAD
rs1453129115 CA351355386	260	L>F		No	ClinGen gnomAD
rs1290404832 CA351355379	261	H>D		No	ClinGen gnomAD
rs372015883 CA2213591 COSM210630 COSM210629	262	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2213589 COSM210630 rs372015883 COSM210629	262	G>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
COSM3962657 rs372015883 CA2213590 COSM3962658	262	G>W	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs555625605 CA2213588	263	Y>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351355334 rs1347030594	264	V>G		No	ClinGen TOPMed
rs533685624 CA2213586	264	V>M		No	ClinGen ExAC TOPMed gnomAD
rs746072955 CA2213584	265	S>T		No	ClinGen ExAC TOPMed gnomAD
CA351355319 rs1352116585	266	G>W		No	ClinGen gnomAD
rs1290237009 CA351355308	267	E>V		No	ClinGen TOPMed
rs1424400626 CA351355304	268	D>N		No	ClinGen TOPMed gnomAD
CA351355300 rs1424400626	268	D>Y		No	ClinGen TOPMed gnomAD
CA351355289 rs573164247	269	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2213580 rs573164247	269	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2213581 rs573164247	269	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM4133714 rs764539012 COSM4133715 CA2213578	271	G>W	thyroid [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA351355264 rs1575327542	272	Q>E		No	ClinGen Ensembl
CA351355238 rs1190723399	274	I>V		No	ClinGen TOPMed
rs753287024 CA2213577	276	D>E		No	ClinGen ExAC gnomAD
rs1479007595 CA351355208	277	L>V		No	ClinGen gnomAD
CA2213574 rs760327884	281	V>L		No	ClinGen ExAC TOPMed gnomAD
rs760327884 CA351355167	281	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2213573 rs749958140	283	L>H		No	ClinGen ExAC TOPMed gnomAD
CA351355127 rs1289865234	284	P>R		No	ClinGen gnomAD
CA68221372 rs958374516	285	P>S		No	ClinGen TOPMed
CA2213572 rs767222904	286	S>P		No	ClinGen ExAC TOPMed gnomAD
rs761581299 CA2213571	289	H>R		No	ClinGen ExAC gnomAD
CA351355030 rs1452829760	290	I>F		No	ClinGen gnomAD
CA2213570 rs773979191	291	P>L		No	ClinGen ExAC gnomAD
CA351355016 rs1272462634	291	P>S		No	ClinGen gnomAD
CA351355008 rs1370425880	292	K>E		No	ClinGen gnomAD
CA351354909 rs1337439842	294	L>F		No	ClinGen gnomAD
CA351354904 rs1460405388	294	L>H		No	ClinGen gnomAD
rs1460405388 COSM1291477 CA351354903 COSM1291478	294	L>P	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated gnomAD
rs772189304 CA2213541	304	R>G		No	ClinGen ExAC gnomAD
rs748488652 CA2213540	305	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2213537 rs148298829	306	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213538 rs755503794	306	G>S		No	ClinGen ExAC gnomAD
CA2213536 rs780830844	309	F>L		No	ClinGen ExAC TOPMed gnomAD
CA351354689 rs1289337541	310	P>S		No	ClinGen TOPMed gnomAD
CA351354657 rs1409915953	312	S>G		No	ClinGen TOPMed
CA351354576 rs1446747777	317	S>C		No	ClinGen gnomAD
CA2213533 rs763731640	318	Q>R		No	ClinGen ExAC gnomAD
rs752437474 CA2213532	319	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2213530 rs765045785	319	P>R		No	ClinGen ExAC TOPMed gnomAD
rs752437474 CA2213531	319	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1559393419 CA351354544	320	S>R		No	ClinGen Ensembl
rs371146374 CA2213528	322	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
COSM1406913 rs556062263 CA2213527 COSM1406912	324	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA351354476 rs1575324808	325	T>P		No	ClinGen Ensembl
rs1207422567 CA351354463	326	T>S		No	ClinGen TOPMed
rs748350976 CA2213523	327	G>S		No	ClinGen ExAC TOPMed gnomAD
CA351354430 rs1243180919	328	E>G		No	ClinGen gnomAD
CA2213522 rs373497968	329	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1021639110 CA351354398	330	A>S		No	ClinGen TOPMed gnomAD
COSM1531633 rs1021639110 CA68220698 COSM1531634	330	A>T	lung [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA2213519 rs780777762	331	P>A		No	ClinGen ExAC gnomAD
rs546274198 CA2213518	333	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs369664516 CA68220676	334	G>S		No	ClinGen ESP gnomAD
CA2213516 rs777166866	335	Y>*		No	ClinGen ExAC gnomAD
rs141291099 CA2213514	336	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs141291099 CA2213513	336	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2213515 rs113552265	336	R>W		No	ClinGen ExAC TOPMed gnomAD
rs185494757 CA68220668	337	A>E		No	ClinGen 1000Genomes
rs1428483834 CA351354306	337	A>P		No	ClinGen gnomAD
rs754824423 CA2213512	338	S>F		No	ClinGen ExAC gnomAD
rs1003239214 CA68220656	338	S>T		No	ClinGen Ensembl
CA351354275 rs1490604621	339	V>I		No	ClinGen gnomAD
CA351354273 rs1490604621	339	V>L		No	ClinGen gnomAD
CA68220639 rs922175441	341	V>A		No	ClinGen TOPMed gnomAD
rs922175441 CA351354238	341	V>G		No	ClinGen TOPMed gnomAD
rs1290585195 CA351354214	343	C>R		No	ClinGen gnomAD
CA351354195 rs1219725853	344	T>P		No	ClinGen gnomAD
CA2213511 rs753770204	345	I>V		No	ClinGen ExAC TOPMed gnomAD
CA351354166 rs1226023160	346	S>G		No	ClinGen TOPMed gnomAD
CA2213510 rs766283136	349	I>V		No	ClinGen ExAC gnomAD
rs760553041 CA2213509	350	T>P		No	ClinGen ExAC gnomAD
rs1575324402 CA351354104	351	L>P		No	ClinGen Ensembl
rs544202410 CA2213506	353	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351354086 rs1423045424	353	P>S		No	ClinGen gnomAD
CA2213504 rs769142294	354	D>G		No	ClinGen ExAC TOPMed gnomAD
rs749601507 CA351354057	356	T>P		No	ClinGen ExAC gnomAD
rs749601507 CA2213503	356	T>S		No	ClinGen ExAC gnomAD
rs770283138 CA2213501	359	G>D		No	ClinGen ExAC gnomAD
rs1480977249 CA351354025	359	G>S		No	ClinGen TOPMed gnomAD
rs1025001208 CA68220568	361	N>K		No	ClinGen TOPMed
CA351353959 rs1575324257	363	S>R		No	ClinGen Ensembl
rs145134713 CA2213499	365	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213498 COSM1018855 rs757893760 COSM1018856	365	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA351353915 rs1423472173	366	L>P		No	ClinGen TOPMed
CA68220544 rs1039865311	368	L>V		No	ClinGen Ensembl
CA351353852 rs1444079544	369	F>C		No	ClinGen gnomAD
CA351353833 rs1337776810	369	F>L		No	ClinGen gnomAD
CA2213494 rs139054084	369	F>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA351353829 rs555355660	370	G>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2213493 rs555355660	370	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs750379832 CA2213491	371	Y>*		No	ClinGen ExAC TOPMed gnomAD
CA2213490 rs767624345	372	G>R		No	ClinGen ExAC TOPMed gnomAD
CA351353064 rs377122334	374	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213489 COSM3695402 rs377122334 COSM3695403	374	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2213488 rs751698339	375	E>A		No	ClinGen ExAC gnomAD
rs1174788085 CA351352955	379	K>E		No	ClinGen TOPMed gnomAD
CA2213464 rs759886465	381	I>T		No	ClinGen ExAC gnomAD
rs1459342133 CA351352711	381	I>V		No	ClinGen TOPMed
rs777059311 CA2213463	383	F>L		No	ClinGen ExAC gnomAD
rs761201439 CA2213462	383	F>L		No	ClinGen ExAC TOPMed gnomAD
CA351352632 rs1401513178	386	P>T		No	ClinGen TOPMed
CA68219518 rs531959362	389	Y>C		No	ClinGen Ensembl
CA351352550 rs1246849685	390	S>G		No	ClinGen TOPMed gnomAD
CA2213457 rs748954870	391	Y>C		No	ClinGen ExAC gnomAD
rs745587892 CA2213454	392	M>R		No	ClinGen ExAC gnomAD
rs745587892 CA351352517	392	M>T		No	ClinGen ExAC gnomAD
rs769488790 CA2213455	392	M>V		No	ClinGen ExAC TOPMed gnomAD
CA2213453 rs781067196	393	D>V		No	ClinGen ExAC gnomAD
CA2213451 rs777980574	395	A>E		No	ClinGen ExAC TOPMed gnomAD
CA351352491 rs1575320815	395	A>T		No	ClinGen Ensembl
rs777980574 COSM1406908 COSM1406909 CA2213450	395	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA351352468 rs1163752241	396	Y>C		No	ClinGen gnomAD
CA68219501 rs375855876	396	Y>N		No	ClinGen ESP TOPMed
rs765310070 CA2213447	398	S>G		No	ClinGen ExAC
CA2213446 rs755241683	398	S>I		No	ClinGen ExAC gnomAD
rs755241683 CA351352431	398	S>N		No	ClinGen ExAC gnomAD
rs1356940412 CA351352350	403	P>L		No	ClinGen TOPMed gnomAD
CA2213443 rs761146447	408	C>S		No	ClinGen ExAC gnomAD
CA2213442 rs773763642	410	D>A		No	ClinGen ExAC gnomAD
rs763340627 CA2213440	411	V>I		No	ClinGen ExAC TOPMed gnomAD
rs149425605 CA2213438	412	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs149425605 CA2213437	412	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213436 rs776539745	413	N>S		No	ClinGen ExAC gnomAD
rs372343266 CA2213435	414	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA351352236 rs1287861537	414	E>G		No	ClinGen gnomAD
rs1363294686 CA351352222	415	S>I		No	ClinGen gnomAD
CA351352211 rs1270083682	416	G>E		No	ClinGen gnomAD
rs1347710214 CA351352204	417	C>Y		No	ClinGen gnomAD
CA2213434 rs746932602	419	E>D		No	ClinGen ExAC gnomAD
CA68219431 rs564018694	421	T>I		No	ClinGen 1000Genomes gnomAD
CA351352142 rs1171967553	423	D>N		No	ClinGen gnomAD
CA351352141 rs1171967553	423	D>Y		No	ClinGen gnomAD
rs200392839 CA2213431	424	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200392839 CA351352130	424	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2213432 rs758362194	424	P>S		No	ClinGen ExAC gnomAD
rs35187712 CA351352106	426	Q>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs35187712 VAR_040987 CA2213429	426	Q>R		No	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA2213428 rs755123998	428	Q>H		No	ClinGen ExAC gnomAD
CA68219397 rs755123998	428	Q>H		No	ClinGen ExAC gnomAD
CA351352083 rs1198377359	428	Q>R		No	ClinGen gnomAD
CA351352072 rs1245148972	430	P>T		No	ClinGen gnomAD
rs1397286077 CA351352040	433	G>V		No	ClinGen gnomAD
rs766713864 CA2213426	434	G>D		No	ClinGen ExAC gnomAD
CA2213424 rs756535845	435	Q>L		No	ClinGen ExAC gnomAD
CA2213403 rs752160965	437	P>S		No	ClinGen ExAC gnomAD
rs1419940636 CA351351302	438	R>G		No	ClinGen gnomAD
rs1274842137 CA351351297	438	R>K		No	ClinGen gnomAD
rs759154055 CA2213401	440	N>D		No	ClinGen ExAC gnomAD
rs148893670 CA68216908	441	V>D		No	ClinGen ESP TOPMed gnomAD
rs753404210 CA2213400	441	V>I		No	ClinGen ExAC gnomAD
rs112438433 CA351351240	442	V>L		No	ClinGen ExAC TOPMed gnomAD
CA2213398 rs112438433	442	V>M		No	ClinGen ExAC TOPMed gnomAD
CA2213396 rs761641861	443	L>F		No	ClinGen ExAC gnomAD
CA2213395 rs761641861	443	L>I		No	ClinGen ExAC gnomAD
CA351351209 rs1422976302	445	G>A		No	ClinGen TOPMed
CA351351201 rs1306575777	446	G>D		No	ClinGen gnomAD
CA351351203 rs1466256693	446	G>S		No	ClinGen TOPMed
CA2213394 rs774411443	447	H>R		No	ClinGen ExAC gnomAD
COSM1018852 rs563062107 COSM1018853 CA2213392	448	V>I	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA68216868 rs563062107	448	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2213391 rs140101325	451	R>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA68216863 rs140101325	451	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2213390 rs368743806	451	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA351351115 rs781392698	454	I>M		No	ClinGen ExAC TOPMed gnomAD
CA2213389 rs746132737	454	I>V		No	ClinGen ExAC gnomAD
CA2213385 rs1553613835	455	R>Q		No	ClinGen Ensembl
rs61752510 CA2213387 RCV000946706	455	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs952760877 CA68216852	457	L>M		No	ClinGen TOPMed gnomAD
rs752009013 CA2213384	458	M>L		No	ClinGen ExAC TOPMed gnomAD
rs1264408838 CA351351043	459	E>G		No	ClinGen gnomAD
CA2213383 rs778277596	461	Q>H		No	ClinGen ExAC gnomAD
rs1220399722 CA351350997	462	D>N		No	ClinGen TOPMed
CA2213382 rs758989346	463	I>V		No	ClinGen ExAC gnomAD
CA351350919 rs1559386730	465	T>I		No	ClinGen Ensembl
CA68216841 rs908342866	466	G>R		No	ClinGen TOPMed gnomAD
rs766018375 CA351350894	467	T>A		No	ClinGen ExAC TOPMed gnomAD
rs766018375 CA2213380	467	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2213378 rs146088324	476	Q>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2213377 rs767209891	477	L>R		No	ClinGen ExAC TOPMed gnomAD
rs1411738199 CA351350327	478	L>F		No	ClinGen TOPMed
rs761600654 CA2213376	479	S>C		No	ClinGen ExAC
rs374651084 CA68215100	480	C>S		No	ClinGen ESP
rs1559386607 CA351350275	482	S>*		No	ClinGen Ensembl
CA2213373 rs762904323	485	P>L		No	ClinGen ExAC TOPMed gnomAD
CA351350241 rs762904323	485	P>R		No	ClinGen ExAC TOPMed gnomAD
rs768587311 CA2213374	485	P>S		No	ClinGen ExAC gnomAD
CA351350238 rs1296259179	486	A>T		No	ClinGen TOPMed
rs1366397073 CA351350213	488	G>A		No	ClinGen gnomAD
rs1559379405 CA351349844	490	D>V		No	ClinGen Ensembl
CA2213353 rs765299242	491	N>S		No	ClinGen ExAC gnomAD
rs1456400954 CA351349826	493	P>S		No	ClinGen gnomAD
rs776589557 CA2213351	495	G>R		No	ClinGen ExAC gnomAD
rs771137371 CA2213350	496	S>G		No	ClinGen ExAC TOPMed
rs1233434624 CA351349804	496	S>R		No	ClinGen gnomAD
rs773595410 CA2213348	500	H>R		No	ClinGen ExAC gnomAD
CA2213346 rs748660121	501	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1249729027 CA351349772	502	E>K		No	ClinGen Ensembl
CA2213344 rs755554702	504	A>V		No	ClinGen ExAC gnomAD
rs761019929 CA2213342	507	K>R		No	ClinGen ExAC gnomAD
rs201275460 CA2213341	508	D>G		No	ClinGen ExAC TOPMed gnomAD
rs1350325662 CA351349724	509	Q>P		No	ClinGen TOPMed gnomAD
CA68211842 rs1020368788	510	Q>H		No	ClinGen Ensembl
rs751215262 CA2213340	511	I>V		No	ClinGen ExAC gnomAD
CA2213339 rs56033464 VAR_040988	512	T>A		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752496501 CA2213337	513	A>S		No	ClinGen ExAC gnomAD
VAR_028294 rs2240543 CA2213336	514	L>S		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351349682 rs1177475856	516	R>K		No	ClinGen gnomAD
CA68211828 rs1054788158	517	E>D		No	ClinGen Ensembl
CA351349674 rs1378260839	517	E>V		No	ClinGen TOPMed gnomAD
rs370786709 CA2213335	519	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs776733626 CA2213334	520	V>A		No	ClinGen ExAC gnomAD
CA2213333 rs766410959	521	A>T		No	ClinGen ExAC gnomAD
CA2213330 rs772426453	522	I>M		No	ClinGen ExAC gnomAD
CA2213331 rs773373848	522	I>T		No	ClinGen ExAC TOPMed gnomAD
rs760937320 CA2213332	522	I>V		No	ClinGen ExAC TOPMed gnomAD
CA68211810 rs201390908	524	S>T		No	ClinGen TOPMed gnomAD
rs1440681902 CA351349620	526	G>E		No	ClinGen gnomAD
COSM442630 CA2213327 COSM442629 rs146166509	526	G>R	breast [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs201080865 CA2213326	527	Q>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2213325 rs780727668	527	Q>R		No	ClinGen ExAC gnomAD
rs758062545 CA2213322	529	L>H		No	ClinGen ExAC gnomAD
rs758062545 CA2213321	529	L>P		No	ClinGen ExAC gnomAD
rs746673696 CA2213323	529	L>V		No	ClinGen ExAC gnomAD
rs1416000770 CA351349585	532	E>G		No	ClinGen TOPMed
rs752441496 CA2213320	535	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1183667033 CA351349551	537	P>S		No	ClinGen gnomAD
CA351349546 rs1466025802	538	V>L		No	ClinGen TOPMed
rs754913621 CA2213318	539	D>H		No	ClinGen ExAC TOPMed gnomAD
rs754913621 CA351349541	539	D>N		No	ClinGen ExAC TOPMed gnomAD
CA351349537 rs1195065303	539	D>V		No	ClinGen gnomAD
CA351349516 rs1447322254	542	P>L		No	ClinGen gnomAD
rs983163152 CA68211720	542	P>T		No	ClinGen Ensembl
CA351349498 rs1216222654	545	S>F		No	ClinGen gnomAD
CA351349490 rs1435098591	546	C>F		No	ClinGen TOPMed
CA2213316 rs766475442	547	E>K		No	ClinGen ExAC TOPMed gnomAD
rs113857001 CA2213315	548	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1217203990 CA351349448	552	P>L		No	ClinGen TOPMed
CA2213314 rs750542511	554	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1341578797 CA351349415	557	D>E		No	ClinGen gnomAD
rs574763541 CA68211714	559	G>C		No	ClinGen gnomAD
rs369051566 CA2213313	559	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs574763541 CA351349408	559	G>S		No	ClinGen gnomAD
CA351349390 rs1451162820	561	D>E		No	ClinGen TOPMed
CA2213312 rs762155290	563	G>A		No	ClinGen ExAC gnomAD
rs988878271 CA68211701	564	M>I		No	ClinGen TOPMed
CA351349373 rs1222362830	564	M>T		No	ClinGen TOPMed
rs376643711 CA68211688	570	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs376643711 CA2213309	570	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA351349330 rs1396571943	570	K>R		No	ClinGen gnomAD
rs373515430 CA2213305	575	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs770342439 CA2213306	575	R>W		No	ClinGen ExAC TOPMed gnomAD
CA351349292 rs1408478899	576	M>I		No	ClinGen gnomAD
rs777290783 CA351349286	577	G>A		No	ClinGen ExAC gnomAD
rs777290783 CA2213304	577	G>E		No	ClinGen ExAC gnomAD
CA351349282 rs1478017571	578	V>L		No	ClinGen TOPMed
CA351349267 rs771674044	580	G>D		No	ClinGen ExAC TOPMed gnomAD
CA2213303 rs771674044	580	G>V		No	ClinGen ExAC TOPMed gnomAD
CA68211673 rs747840826	581	P>S		No	ClinGen ExAC TOPMed gnomAD
rs747840826 CA2213302	581	P>T		No	ClinGen ExAC TOPMed gnomAD
rs754795919 CA2213300	583	G>S		No	ClinGen ExAC TOPMed gnomAD
rs753671346 CA2213299	583	G>V		No	ClinGen ExAC TOPMed gnomAD
CA351349245 rs1211768742	584	S>*		No	ClinGen TOPMed gnomAD
rs1278030445 CA351349238	585	D>A		No	ClinGen gnomAD
CA351349237 rs1341589700	585	D>E		No	ClinGen TOPMed
CA351349239 rs1278030445	585	D>G		No	ClinGen gnomAD
rs756097707 CA2213298	586	L>I		No	ClinGen ExAC TOPMed gnomAD
rs756097707 CA2213297	586	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1575286758 CA351349229	587	W>G		No	ClinGen Ensembl
rs1293713316 CA351349227	587	W>S		No	ClinGen gnomAD
rs1356215952 CA351349217	588	A>V		No	ClinGen TOPMed
CA351349210 rs762100373	590	A>P		No	ClinGen ExAC gnomAD
CA2213295 rs762100373	590	A>S		No	ClinGen ExAC gnomAD
rs762100373 CA2213294	590	A>T		No	ClinGen ExAC gnomAD
CA351349200 rs149308428	592	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs149308428 CA2213292	592	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA351349194 rs1487434547	593	A>P		No	ClinGen TOPMed
CA351349195 rs1487434547	593	A>T		No	ClinGen TOPMed
CA2213288 rs760067317	595	P>L		No	ClinGen ExAC TOPMed gnomAD
CA351349176 rs1431753537	596	Q>*		No	ClinGen gnomAD
CA2213287 rs374548274	596	Q>H		No	ClinGen ESP ExAC gnomAD
rs1477805905 CA351349167	597	A>S		No	ClinGen gnomAD
rs747787560 CA2213285	598	K>M		No	ClinGen ExAC TOPMed gnomAD
rs771621011 CA2213286	598	K>Q		No	ClinGen ExAC gnomAD
rs747787560 CA68211640	598	K>R		No	ClinGen ExAC TOPMed gnomAD
CA351349156 rs1458619081	599	G>C		No	ClinGen gnomAD
CA351349153 rs1257904376	599	G>V		No	ClinGen gnomAD
CA351349149 rs1197180350	600	Q>R		No	ClinGen TOPMed gnomAD
COSM720869 CA2213284 rs773924956 COSM720870	602	A>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs779929634 CA2213281	604	G>C		No	ClinGen ExAC TOPMed gnomAD
CA2213280 rs755970798	604	G>D		No	ClinGen ExAC gnomAD
CA68211617 rs541534852	606	L>H		No	ClinGen gnomAD
CA351349116 rs1399458085	606	L>I		No	ClinGen TOPMed gnomAD
rs1559378223 CA351349094	609	H>R		No	ClinGen Ensembl
rs892962312 CA68211595	609	H>Y		No	ClinGen Ensembl
CA2213275 rs781405486	610	C>Y		No	ClinGen ExAC gnomAD
CA2213274 rs557473549	611	P>R		No	ClinGen ExAC gnomAD
rs146219306 CA2213272	613	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs751696479 CA2213273	613	Y>N		No	ClinGen ExAC gnomAD
CA68211563 rs201644179	614	G>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2213270 rs201644179	614	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA2213268 rs765674792	617	W>R		No	ClinGen ExAC gnomAD
CA2213265 rs766875141	620	W>*		No	ClinGen ExAC TOPMed gnomAD
rs777182398 CA2213266	620	W>*		No	ClinGen ExAC TOPMed gnomAD
COSM1663326 rs761254378 COSM1663325 CA2213264	621	W>C	kidney [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA351349015 rs1575286104	621	W>G		No	ClinGen Ensembl
rs773934506 CA2213263	622	R>*		No	ClinGen ExAC TOPMed
rs201276177 CA2213261	622	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs749006064 CA2213260	624	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs775120867 CA2213259	625	D>H		No	ClinGen ExAC gnomAD
CA351348990 rs775120867	625	D>Y		No	ClinGen ExAC gnomAD
rs769767333 CA2213258	627	A>V		No	ClinGen ExAC gnomAD
rs375258850 CA2213257	628	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213256 rs781211912	628	P>L		No	ClinGen ExAC TOPMed gnomAD
rs914316966 CA68211511	629	S>G		No	ClinGen TOPMed
rs1433737867 CA351348953	631	S>P		No	ClinGen TOPMed gnomAD
CA351348948 rs757276188	632	G>R		No	ClinGen ExAC TOPMed gnomAD
rs757276188 CA2213254	632	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1047478785 CA68211506	634	A>V		No	ClinGen Ensembl
CA2213253 rs747041166	635	G>D		No	ClinGen ExAC gnomAD
rs753013231 CA2213250	637	S>L		No	ClinGen ExAC TOPMed gnomAD
rs147566928 CA2213251	637	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA351348907 rs1407237886	638	F>L		No	ClinGen TOPMed gnomAD
CA2213247 rs371959153	640	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs766820104 CA2213246	641	P>S		No	ClinGen ExAC gnomAD
rs1216940707 CA351348885	642	T>I		No	ClinGen gnomAD
rs1247460484 CA351348881	643	L>P		No	ClinGen gnomAD
rs367885509 CA68211475	644	D>G		No	ClinGen ESP TOPMed gnomAD
CA351348868 rs1231420121	645	E>G		No	ClinGen TOPMed
COSM4128267 rs201811589 CA2213245 COSM4128268	646	P>L	ovary [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA351348862 rs201811589	646	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA68211473 rs868174550	646	P>S		No	ClinGen Ensembl
CA351348848 rs1255523318	648	L>P		No	ClinGen gnomAD
rs763704992 CA2213242	650	V>E		No	ClinGen ExAC gnomAD
rs763704992 CA351348837	650	V>G		No	ClinGen ExAC gnomAD
CA351348833 rs1400909172	651	E>*		No	ClinGen TOPMed gnomAD
rs1400909172 CA351348835	651	E>K		No	ClinGen TOPMed gnomAD
CA351348826 rs1360116078	652	N>D		No	ClinGen gnomAD
CA2213241 rs371696575	652	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs140205085 CA2213238 COSM1219340 COSM1219341	653	D>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs1575285471 CA351348817	653	D>V		No	ClinGen Ensembl
rs140205085 CA2213239	653	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs200120797 CA2213237	654	R>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213236 rs371233463	654	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213235 rs747011460	655	E>A		No	ClinGen ExAC gnomAD
CA351348808 rs747011460	655	E>G		No	ClinGen ExAC gnomAD
CA351348784 rs1487767180	658	Q>H		No	ClinGen gnomAD
rs777693579 CA2213234	659	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1026829639 CA68211405	659	T>S		No	ClinGen TOPMed
rs987049605 CA68211395	660	C>S		No	ClinGen TOPMed
rs1398749637 CA351348764	662	I>V		No	ClinGen TOPMed
CA2213232 rs368254000	665	Q>*		No	ClinGen ESP ExAC gnomAD
CA351348742 rs368254000	665	Q>E		No	ClinGen ESP ExAC gnomAD
CA68211391 rs779041258	665	Q>H		No	ClinGen ExAC gnomAD
CA351348739 rs1465499793	665	Q>R		No	ClinGen TOPMed
rs754161474 CA2213229	667	S>F		No	ClinGen ExAC TOPMed gnomAD
CA351348724 rs1340123279	668	Q>*		No	ClinGen gnomAD
CA351348718 rs1296536423	669	L>V		No	ClinGen gnomAD
rs1385135283 CA351348708	670	S>N		No	ClinGen TOPMed
CA2213227 rs780435991	671	L>F		No	ClinGen ExAC gnomAD
rs756587282 CA2213226	672	A>G		No	ClinGen ExAC TOPMed gnomAD
rs756587282 CA351348695	672	A>V		No	ClinGen ExAC TOPMed gnomAD
rs569998006 CA68211376	674	A>T		No	ClinGen 1000Genomes
rs763505116 CA2213224	676	D>A		No	ClinGen ExAC gnomAD
rs762454646 CA2213223	677	V>I		No	ClinGen ExAC gnomAD
rs989317833 CA68211373	678	P>L		No	ClinGen Ensembl
rs764936793 CA2213221	680	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200053420 CA2213220	680	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770898947 CA2213218	681	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1207509563 CA351348637	682	L>H		No	ClinGen TOPMed
CA351348633 rs773268908	683	V>F		No	ClinGen ExAC gnomAD
CA2213216 rs773268908 COSM210626 COSM210625	683	V>I	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs773268908 CA351348634	683	V>L		No	ClinGen ExAC gnomAD
CA2213215 rs56372985	684	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_040989 rs56372985 CA2213214	684	P>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1165503215 CA351348625	685	T>P		No	ClinGen TOPMed gnomAD
RCV000968934 rs139743003 CA2213212 COSM3695400 COSM3695401	685	T>R	large_intestine [Cosmic]	No	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1235790220 CA351348609	687	C>Y		No	ClinGen TOPMed gnomAD
CA2213210 rs370982349	690	V>I		No	ClinGen ESP ExAC gnomAD
rs756563834 CA2213209	691	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1014092729 CA68211319	691	T>I		No	ClinGen Ensembl
rs886109968 CA351348579	692	A>D		No	ClinGen TOPMed gnomAD
rs781679866 CA2213207	692	A>T		No	ClinGen ExAC TOPMed gnomAD
rs886109968 CA68211318	692	A>V		No	ClinGen TOPMed gnomAD
CA351348576 rs1398611761	693	P>A		No	ClinGen gnomAD
rs1398611761 CA351348575	693	P>S		No	ClinGen gnomAD
rs6727226 CA2213205 RCV000970609 VAR_028295	694	V>M		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs764883930 CA2213204	695	S>L		No	ClinGen ExAC TOPMed gnomAD
rs766272789 CA2213201	696	S>P		No	ClinGen ExAC gnomAD
CA351348548 rs1456358723	698	D>N		No	ClinGen gnomAD
rs772897849 CA2213199	700	G>E		No	ClinGen ExAC TOPMed gnomAD
CA351348524 rs1345987476	702	R>G		No	ClinGen gnomAD
rs377507108 CA2213197	703	D>H		No	ClinGen ESP ExAC gnomAD
CA2213196 rs774390598	704	L>R		No	ClinGen ExAC gnomAD
CA2213194 rs749503575	705	C>R		No	ClinGen ExAC TOPMed gnomAD
CA2213192 rs769919647	706	G>D		No	ClinGen ExAC TOPMed gnomAD
rs746197536 CA2213191	707	G>A		No	ClinGen ExAC
CA351348485 rs1194794495	708	C>Y		No	ClinGen TOPMed
COSM1406905 CA2213190 COSM1406904 rs575148483	709	T>M	large_intestine bone [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA2213188 rs201354315	710	G>D		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351348476 rs1170390299	710	G>S		No	ClinGen gnomAD
CA2213186 rs778553939	714	A>V		No	ClinGen ExAC gnomAD
rs1369196206 CA351348073	715	C>R		No	ClinGen TOPMed
rs754602643 CA2213185	715	C>Y		No	ClinGen ExAC gnomAD
CA2213184 rs753404251	716	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA2213183 rs766000502	717	A>G		No	ClinGen ExAC gnomAD
CA68211239 COSM220549 COSM220548 rs148835699	717	A>T	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP
CA2213182 rs199611259	719	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs767264831 CA2213181	720	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2213180 rs767264831	720	T>R		No	ClinGen ExAC TOPMed gnomAD
CA351348035 rs1356119938	721	D>E		No	ClinGen gnomAD
rs150123032 CA2213178	721	D>N		No	ClinGen ESP ExAC
rs575246734 CA2213177	722	L>F		No	ClinGen 1000Genomes ExAC gnomAD
CA2213176 RCV000925111 rs201982321	722	L>P		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs2005771 VAR_028296 CA2213175	725	G>D		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1349167304 CA351348017	725	G>S		No	ClinGen gnomAD
CA351348011 rs1575284017	726	L>V		No	ClinGen Ensembl
CA68211182 rs988856277	727	E>V		No	ClinGen TOPMed
rs1311898448 CA351348000	728	A>S		No	ClinGen TOPMed
CA351347990 rs1246010107	729	V>A		No	ClinGen gnomAD
CA2213174 rs770021127	732	Q>*		No	ClinGen ExAC gnomAD
rs1311405706 CA351347965	733	E>K		No	ClinGen gnomAD
rs1575283903 CA351347954	734	V>G		No	ClinGen Ensembl
rs1359591549 CA351347959	734	V>I		No	ClinGen TOPMed
CA2213172 rs777034936	736	V>G		No	ClinGen ExAC gnomAD
CA351347945 rs1297323994	736	V>M		No	ClinGen gnomAD
rs960813374 COSM1018849 COSM1018848 CA68211166	738	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA351347920 rs1352469169	739	F>L		No	ClinGen TOPMed
rs747513524 CA2213170	740	S>P		No	ClinGen ExAC TOPMed gnomAD
CA351347900 rs1472409757	741	W>C		No	ClinGen gnomAD
rs1244133088 CA351347885	742	N>K		No	ClinGen TOPMed
CA2213169 rs140723245	743	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA351347862 rs1181851142	744	K>N		No	ClinGen TOPMed
rs772720602 CA351347848	745	E>D		No	ClinGen ExAC TOPMed gnomAD
rs1257455638 CA351347858	745	E>K		No	ClinGen TOPMed
rs748760231 CA2213167	746	L>P		No	ClinGen ExAC gnomAD
CA351347818 rs1264088457	748	F>S		No	ClinGen gnomAD
rs969874308 CA68211149	749	S>G		No	ClinGen TOPMed gnomAD
rs779467871 CA2213166	749	S>I		No	ClinGen ExAC TOPMed gnomAD
CA351347808 rs779467871	749	S>N		No	ClinGen ExAC TOPMed gnomAD
rs750100266 CA2213165	749	S>R		No	ClinGen ExAC gnomAD
rs1346803292 CA351347798	750	D>A		No	ClinGen TOPMed
CA68211141 rs142455788	750	D>N		No	ClinGen ESP TOPMed gnomAD
CA351347790 rs1575283554	751	Q>*		No	ClinGen Ensembl
CA351347776 rs1464333787	752	T>A		No	ClinGen TOPMed
CA351347769 rs781032414	753	D>H		No	ClinGen ExAC gnomAD
rs781032414 CA2213163	753	D>N		No	ClinGen ExAC gnomAD
rs1356251600 CA351347767	753	D>V		No	ClinGen gnomAD
rs373734894 CA351347740	755	T>K		No	ClinGen ExAC TOPMed gnomAD
rs373734894 CA2213161	755	T>M		No	ClinGen ExAC TOPMed gnomAD
CA2213159 rs762912238	758	N>D		No	ClinGen ExAC gnomAD
rs1428191081 CA351347711	758	N>S		No	ClinGen TOPMed gnomAD
rs1323643220 CA351347696	759	C>F		No	ClinGen gnomAD
CA351347685 rs1404752975	760	S>C		No	ClinGen gnomAD
CA351347686 rs1404752975	760	S>F		No	ClinGen gnomAD
rs1172558817 CA351347659	763	T>A		No	ClinGen gnomAD
CA2213156 rs150014507	763	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351347649 rs1310863932	764	S>A		No	ClinGen TOPMed
CA351347594 rs1424632489	769	T>A		No	ClinGen gnomAD
rs773737144 CA2213153	770	P>H		No	ClinGen ExAC gnomAD
rs773737144 CA2213152	770	P>R		No	ClinGen ExAC gnomAD
rs771190438 CA2213154	770	P>S		No	ClinGen ExAC gnomAD
CA351347570 rs1222377111	771	S>F		No	ClinGen gnomAD
CA351347551 rs1451544619	773	L>F		No	ClinGen TOPMed gnomAD
rs748713125 CA2213150	774	A>S		No	ClinGen ExAC gnomAD
rs763050254 CA68211064	775	V>M		No	ClinGen Ensembl
rs769254338 CA2213148	778	D>H		No	ClinGen ExAC TOPMed gnomAD
rs769254338 CA351347511	778	D>N		No	ClinGen ExAC TOPMed gnomAD
CA351347494 rs769570519	779	P>L		No	ClinGen gnomAD
CA68211043 rs769570519	779	P>R		No	ClinGen gnomAD
rs151273822 CA351347486	780	D>G		No	ClinGen 1000Genomes ExAC gnomAD
CA2213147 rs151273822	780	D>V		No	ClinGen 1000Genomes ExAC gnomAD
rs543135540 CA2213146	781	V>I		No	ClinGen ExAC TOPMed gnomAD
rs543135540 CA68211012	781	V>L		No	ClinGen ExAC TOPMed gnomAD
CA351347466 rs1466052321	782	G>A		No	ClinGen gnomAD
RCV000889928 rs142426138 CA2213145	782	G>R		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs777586933 CA2213143	783	S>G		No	ClinGen ExAC TOPMed gnomAD
rs758313612 CA2213142	784	L>I		No	ClinGen ExAC gnomAD
CA2213141 rs752638662	786	E>K		No	ClinGen ExAC gnomAD
rs1175031862 CA351347434	787	Q>*		No	ClinGen TOPMed
rs765359392 CA2213139	787	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA2213137 rs753967050	789	S>L		No	ClinGen ExAC TOPMed gnomAD
rs1252976713 CA351347414	790	C>S		No	ClinGen TOPMed gnomAD
CA351347410 rs1181098879	791	V>I		No	ClinGen gnomAD
rs761010947 CA2213135	795	R>W		No	ClinGen ExAC gnomAD
rs35129131 CA2213134 VAR_040990	796	E>K		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351347358 rs1278840559	799	L>I		No	ClinGen gnomAD
CA2213133 rs772622229	799	L>Q		No	ClinGen ExAC gnomAD
CA351347346 rs1345179858	801	T>N		No	ClinGen gnomAD
rs151042801 CA351347343	802	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213131 rs151042801	802	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs538304339 CA68210928	803	T>I		No	ClinGen Ensembl
rs769215194 CA2213129	805	V>I		No	ClinGen ExAC gnomAD
rs1257953742 CA351347319	806	D>N		No	ClinGen TOPMed
CA351347310 rs1438503955	807	L>I		No	ClinGen TOPMed
CA351347306 rs1449908751	808	G>S		No	ClinGen gnomAD
rs745313386 CA2213128	810	G>A		No	ClinGen ExAC gnomAD
CA2213127 rs776234374	811	R>*		No	ClinGen ExAC TOPMed gnomAD
CA2213126 rs770541749	811	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs934132161 CA68210864	812	R>Q		No	ClinGen Ensembl
rs777535373 CA2213125	812	R>W		No	ClinGen ExAC TOPMed gnomAD
rs147915414 COSM3962651 CA2213123 COSM3962652	813	F>L	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs778659166 CA2213121	814	R>Q		No	ClinGen ExAC gnomAD
CA2213122 rs144695933	814	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213120 rs754967605	815	E>*		No	ClinGen ExAC gnomAD
rs753823992 CA2213119	816	S>N		No	ClinGen ExAC gnomAD
CA68210833 rs149329797	816	S>R		No	ClinGen ESP TOPMed
rs766613011 CA351347254	817	C>F		No	ClinGen ExAC gnomAD
CA2213118 rs766613011	817	C>S		No	ClinGen ExAC gnomAD
rs1168511966 CA351347246	818	V>A		No	ClinGen TOPMed
CA351347244 rs1410076407	819	G>R		No	ClinGen TOPMed
rs767857098 CA2213115	820	H>L		No	ClinGen ExAC TOPMed gnomAD
rs111270674 CA68210826	823	T>A		No	ClinGen TOPMed
CA2213113 rs774797247	825	P>L		No	ClinGen ExAC TOPMed gnomAD
CA2213110 rs763553572	826	L>V		No	ClinGen ExAC gnomAD
rs1302040485 CA351347192	827	E>A		No	ClinGen gnomAD
rs564275122 CA2213109	828	V>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA351347186 rs564275122	828	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770488647 CA2213108	830	L>W		No	ClinGen ExAC gnomAD
CA351347150 rs1368663928	831	V>L		No	ClinGen gnomAD
CA351347127 rs1363750079	833	S>F		No	ClinGen gnomAD
CA351347116 rs1322771586	834	E>D		No	ClinGen gnomAD
CA2213107 rs746664049	835	H>R		No	ClinGen ExAC gnomAD
rs1217149024 CA351347112	835	H>Y		No	ClinGen TOPMed
CA2213106 rs772789021	837	A>V		No	ClinGen ExAC gnomAD
CA2213105 rs771726835	838	A>G		No	ClinGen ExAC gnomAD
CA351347086 rs1278153569	838	A>T		No	ClinGen TOPMed
rs150511923 CA2213104	839	S>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1018843 COSM1018842 rs780854501 CA68210801	840	D>N	endometrium [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1487705868 CA351347037	842	E>G		No	ClinGen gnomAD
CA2213102 rs754842914	842	E>Q		No	ClinGen ExAC gnomAD
rs36082918 CA351347015	844	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs36082918 VAR_040991 CA2213099	844	P>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2213100 rs749304653	844	P>S		No	ClinGen ExAC gnomAD
CA2213096 rs145387091	847	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1280283513 CA351346965	849	S>A		No	ClinGen gnomAD
rs757530228 CA2213095	850	T>A		No	ClinGen ExAC TOPMed gnomAD
RCV000970608 CA2213094 rs73112175	850	T>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA68210742 rs973722217	851	L>M		No	ClinGen Ensembl
CA2213092 rs763357825	854	G>S		No	ClinGen ExAC gnomAD
CA351346875 rs201783480	857	D>E		No	ClinGen 1000Genomes ExAC gnomAD
CA2213090 rs151196041	857	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146044486 CA2213088	858	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351346856 rs141663644	859	C>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2213086 RCV000888056 rs141663644	859	C>Y		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351346842 rs1259126513	860	P>L		No	ClinGen gnomAD
CA2213082 rs749037753	864	E>D		No	ClinGen ExAC TOPMed gnomAD
CA351346770 rs1559375152	867	L>P		No	ClinGen Ensembl
CA351346747 rs1246769207	869	V>D		No	ClinGen TOPMed
rs754280192 CA2213080	869	V>I		No	ClinGen ExAC TOPMed gnomAD
CA2213079 rs150248398	870	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA2213077 rs757396684	872	T>A		No	ClinGen ExAC gnomAD
rs778156479 CA2213076	872	T>I		No	ClinGen ExAC TOPMed gnomAD
rs757396684 CA351346721	872	T>P		No	ClinGen ExAC gnomAD
CA351346703 rs777996664	874	T>A		No	ClinGen ExAC TOPMed gnomAD
CA2213074 rs758723236	874	T>M		No	ClinGen ExAC gnomAD
rs777996664 CA2213075	874	T>S		No	ClinGen ExAC TOPMed gnomAD
CA2213071 rs565698930	876	V>M		No	ClinGen 1000Genomes TOPMed
rs76049785 CA2213068	878	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA351346653 rs1386720295	879	M>T		No	ClinGen TOPMed
rs373048417 CA2213067	880	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs761364192 CA2213066 COSM1197093 COSM1197092	880	R>H	lung large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2213064 rs149167340	881	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1433216112 CA351346637	881	G>R		No	ClinGen gnomAD
CA2213063 rs762782709	882	A>S		No	ClinGen ExAC TOPMed gnomAD
rs769822477 CA2213061	884	G>D		No	ClinGen ExAC gnomAD
rs769822477 CA2213062	884	G>V		No	ClinGen ExAC gnomAD
rs771110790 CA2213059	887	R>G		No	ClinGen ExAC TOPMed gnomAD
CA2213057 rs747065146	887	R>Q		No	ClinGen ExAC gnomAD
rs771110790 CA2213058	887	R>W		No	ClinGen ExAC TOPMed gnomAD
rs777993653 CA2213056	888	E>K		No	ClinGen ExAC gnomAD
CA2213054 rs753023940	889	I>M		No	ClinGen ExAC TOPMed gnomAD
CA2213053 rs779293021	890	Q>H		No	ClinGen ExAC gnomAD
rs1379690957 CA351346501	892	G>D		No	ClinGen gnomAD
CA351346507 rs1439414186	892	G>S		No	ClinGen gnomAD
CA351346494 rs1362617103	893	A>V		No	ClinGen gnomAD
CA2213051 rs766797956	894	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs766797956 CA2213050	894	Y>F		No	ClinGen ExAC TOPMed gnomAD
CA351346480 rs1280333672	895	S>A		No	ClinGen TOPMed
rs763762031 CA2213047	896	G>E		No	ClinGen ExAC TOPMed gnomAD
rs534891436 CA2213048	896	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs762733484 CA2213046	897	S>T		No	ClinGen ExAC gnomAD
rs1180859445 CA351346423	899	Y>*		No	ClinGen gnomAD
CA351346432 rs77674262	899	Y>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs77674262 RCV000957831 CA2213044	899	Y>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs765180142 CA2213043	900	H>D		No	ClinGen ExAC TOPMed gnomAD
rs1202468509 COSM1018839 CA351346399 COSM1018838	901	R>*	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA351346392 rs1486114211	901	R>L		No	ClinGen TOPMed gnomAD
CA351346395 rs1486114211	901	R>P		No	ClinGen TOPMed gnomAD
CA351346397 rs1486114211	901	R>Q		No	ClinGen TOPMed gnomAD
rs1363992300 CA351346383	902	D>G		No	ClinGen TOPMed
rs1232099149 CA351346370	903	G>S		No	ClinGen gnomAD
rs747062664 CA2213039	905	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs146183956 CA2213040	905	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1319365567 CA351345395	907	S>N		No	ClinGen gnomAD
CA351345381 rs1559371894	909	Q>*		No	ClinGen Ensembl
CA351345369 rs1292595572	910	F>L		No	ClinGen TOPMed gnomAD
CA68209134 rs978546445	912	V>G		No	ClinGen Ensembl
CA351345357 rs1425239033	912	V>M		No	ClinGen TOPMed
CA2213006 rs753641772	914	R>Q		No	ClinGen ExAC gnomAD
rs147501491 CA2213007	914	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2213005 rs766139528	915	V>G		No	ClinGen ExAC gnomAD
rs760650369 CA2213004	916	E>G		No	ClinGen ExAC
rs750396584 CA2213003	918	Q>P		No	ClinGen ExAC
CA68209113 rs1051318032	921	T>I		No	ClinGen TOPMed
rs767453623 CA2213002	921	T>P		No	ClinGen ExAC
CA2213000 rs774441537	924	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1269082382 CA351345275	926	C>G		No	ClinGen gnomAD
rs1348577299 CA351345274	926	C>S		No	ClinGen TOPMed
CA351345267 rs1427997248	927	W>G		No	ClinGen gnomAD
CA351345268 rs1427997248	927	W>R		No	ClinGen gnomAD
rs768832046 CA68209083	928	L>V		No	ClinGen ExAC gnomAD
CA2212998 rs763132591	929	V>G		No	ClinGen ExAC gnomAD
rs1575272850 CA351345240	931	D>A		No	ClinGen Ensembl
rs143318840 CA2212996	934	H>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs1159016713 CA351345221	934	H>Y		No	ClinGen gnomAD
CA351345206 rs1369786141	936	Q>*		No	ClinGen TOPMed
rs146901521 CA2212994	937	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
VAR_040992 CA2212992 RCV000973019 rs56139954	937	R>H		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs56139954 CA2212993	937	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2212988 rs753495000	938	D>E		No	ClinGen ExAC TOPMed gnomAD
CA2212990 rs144073408	938	D>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs779898732 CA2212987	939	S>*		No	ClinGen ExAC gnomAD
CA2212986 rs755804719	940	A>P		No	ClinGen ExAC gnomAD
CA2212984 rs369141980	941	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs1193593886 CA351345176	942	R>G		No	ClinGen gnomAD
rs866377195 CA68209027	943	T>P		No	ClinGen Ensembl
CA2212982 rs534252134	944	R>C		No	ClinGen 1000Genomes ExAC gnomAD
CA2212983 rs534252134	944	R>G		No	ClinGen 1000Genomes ExAC gnomAD
CA2212981 rs149738932	944	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2212980 rs149738932	944	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1303501109 CA351345134	949	S>T		No	ClinGen gnomAD
CA2212978 rs770070248	950	L>P		No	ClinGen ExAC gnomAD
rs759771883 CA2212977	951	P>L		No	ClinGen ExAC gnomAD
CA2212975 rs771534365	952	G>S		No	ClinGen ExAC TOPMed gnomAD
rs747572389 CA2212974	953	S>T		No	ClinGen ExAC gnomAD
CA2212973 rs551726343	956	S>T		No	ClinGen 1000Genomes ExAC gnomAD
rs1170807482 CA351345090	957	T>A		No	ClinGen TOPMed
CA2212971 rs780391515	958	A>T		No	ClinGen ExAC TOPMed gnomAD
CA68208973 rs1040638477	959	A>P		No	ClinGen Ensembl
CA351345080 rs1040638477	959	A>S		No	ClinGen Ensembl
CA2212970 rs779520844	959	A>V		No	ClinGen ExAC gnomAD
CA351345070 rs1393766311	960	E>D		No	ClinGen TOPMed gnomAD
rs755820425 CA2212969	961	L>F		No	ClinGen ExAC TOPMed gnomAD
CA2212967 rs781010431	962	T>S		No	ClinGen ExAC TOPMed gnomAD
rs1270954938 CA351345060	962	T>S		No	ClinGen gnomAD
CA2212966 rs547785761	963	G>R		No	ClinGen ExAC TOPMed gnomAD
rs1559371209 CA351345027	968	E>K		No	ClinGen Ensembl
CA351344913 rs1290698406	974	P>L		No	ClinGen gnomAD
CA351344916 rs1575267585	974	P>S		No	ClinGen Ensembl
CA68208033 rs370212818	975	W>C		No	ClinGen ExAC
rs370212818 CA2212941	975	W>C		No	ClinGen ExAC
rs142573601 CA2212943	975	W>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA351344890 rs1157411201	977	E>G		No	ClinGen gnomAD
rs537042742 CA2212938	979	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs1186831122 CA351344849	980	P>L		No	ClinGen gnomAD
CA2212936 rs761066205	981	K>R		No	ClinGen ExAC gnomAD
CA351344830 rs1186525772	982	A>D		No	ClinGen gnomAD
CA351344789 rs1461682962	986	E>*		No	ClinGen TOPMed
CA2212934 rs548086369	987	G>E		No	ClinGen ExAC TOPMed gnomAD
rs147512351 CA2212931	989	A>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs147512351 CA2212932	989	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA68207938 rs1039645361	990	A>S		No	ClinGen Ensembl
CA2212929 rs776206557	990	A>V		No	ClinGen ExAC gnomAD
rs376197185 CA2212928	991	C>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376197185 CA2212927	991	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA2212926 rs777663495	992	E>G		No	ClinGen ExAC gnomAD
rs1273823926 CA351344718	993	G>D		No	ClinGen gnomAD
rs866190090 CA68207910	994	E>K		No	ClinGen TOPMed gnomAD
rs1292803293 CA351344682	996	S>F		No	ClinGen TOPMed
rs1292803293 CA351344683	996	S>Y		No	ClinGen TOPMed
rs1335495080 CA351344679	997	Q>*		No	ClinGen TOPMed
CA2212924 rs372263691	997	Q>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1041413679 CA68207902	998	K>N		No	ClinGen Ensembl
rs368360065 CA2212923	1000	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA2212920 rs374635333	1004	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA351344590 rs374635333	1004	P>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA2212921 rs753982709	1004	P>S		No	ClinGen ExAC
rs750727879 CA351344564	1007	S>I		No	ClinGen ExAC TOPMed gnomAD
rs750727879 CA351344563	1007	S>N		No	ClinGen ExAC TOPMed gnomAD
rs750727879 CA2212918	1007	S>T		No	ClinGen ExAC TOPMed gnomAD
COSM4128265 rs746309155 CA2212915 COSM4128266	1011	G>S	ovary [Cosmic]	No	ClinGen cosmic curated TOPMed
CA351344503 rs762220676	1013	V>L		No	ClinGen ExAC TOPMed gnomAD
rs762220676 CA2212914	1013	V>M		No	ClinGen ExAC TOPMed gnomAD
rs752038023 CA2212913	1016	A>T		No	ClinGen ExAC gnomAD
rs758996133 CA2212911	1018	D>E		No	ClinGen ExAC gnomAD
rs1348733356 CA351344448	1018	D>G		No	ClinGen gnomAD
CA351344441 rs1312763356	1019	K>E		No	ClinGen TOPMed
rs2302050 CA351344432	1019	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2212908 rs760425223	1020	E>G		No	ClinGen ExAC TOPMed gnomAD
CA2212909 rs770541620	1020	E>K		No	ClinGen ExAC gnomAD
rs1325689488 CA351344418	1021	K>E		No	ClinGen gnomAD
CA2212901 rs138846266	1023	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2212902 rs138846266	1023	K>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs778160138 CA2212868	1027	V>A		No	ClinGen ExAC gnomAD
CA68201139 rs917008838	1027	V>M		No	ClinGen TOPMed gnomAD
rs145051433 CA2212867	1031	K>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1353400192 CA351342222	1031	K>R		No	ClinGen gnomAD
rs1238736296 CA351342141	1033	E>A		No	ClinGen gnomAD
CA351342118 rs1222668746	1034	K>E		No	ClinGen TOPMed
rs1348261778 CA351342099	1034	K>M		No	ClinGen TOPMed gnomAD
rs1348261778 CA351342107	1034	K>T		No	ClinGen TOPMed gnomAD
rs765741155 CA2212865	1038	D>N		No	ClinGen ExAC TOPMed gnomAD
rs1354343048 CA351341922	1041	I>V		No	ClinGen gnomAD
CA351341785 rs1374772698	1046	L>F		No	ClinGen gnomAD
CA351341788 rs1374772698	1046	L>V		No	ClinGen gnomAD
rs1310526337 CA351341746	1048	K>E		No	ClinGen gnomAD
rs1402388354 CA351341736	1048	K>R		No	ClinGen gnomAD
CA2212863 rs146720543	1051	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs764045481 CA2212860	1054	A>S		No	ClinGen ExAC gnomAD
COSM2910159 rs764045481 COSM2910160 CA2212859	1054	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs775509775 CA2212856	1055	I>V		No	ClinGen ExAC TOPMed gnomAD
rs769639150 CA2212853	1057	S>F		No	ClinGen ExAC TOPMed gnomAD
rs1017600387 CA68201084	1059	V>L		No	ClinGen TOPMed
rs1017600387 CA351341532	1059	V>M		No	ClinGen TOPMed
CA351341517 rs1275434712	1060	E>K		No	ClinGen TOPMed gnomAD
CA2212852 rs149867394	1061	H>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs771163808 CA2212850	1062	A>T		No	ClinGen ExAC TOPMed gnomAD
CA351341475 rs1432238214	1062	A>V		No	ClinGen gnomAD
rs1326484539 CA351341465	1063	N>S		No	ClinGen TOPMed gnomAD
CA351341452 rs1317605295	1064	I>N		No	ClinGen gnomAD
rs775476953 CA351341423	1066	K>N		No	ClinGen gnomAD
CA68201058 rs781538401	1066	K>T		No	ClinGen Ensembl
CA68200964 rs948379366	1067	V>L		No	ClinGen gnomAD
rs948379366 CA351341376	1067	V>L		No	ClinGen gnomAD
rs1437991602 CA351341350	1070	I>V		No	ClinGen gnomAD
rs1202364145 CA351341306	1074	Q>E		No	ClinGen gnomAD
CA68200951 rs755304659	1080	V>G		No	ClinGen TOPMed gnomAD
rs749824329 CA2212821	1081	M>T		No	ClinGen ExAC gnomAD
CA68200935 rs916893007	1084	H>Y		No	ClinGen Ensembl
rs756661701 CA2212819 COSM1018825 COSM1018824	1085	G>S	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA2212817 rs777525056	1087	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1575237806 CA351341121	1089	D>A		No	ClinGen Ensembl
CA351341111 rs1427847029	1090	L>F		No	ClinGen gnomAD
rs201455432 CA2212814	1092	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1575237684 CA351341045	1095	D>A		No	ClinGen Ensembl
CA2212811 rs368841404	1095	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs368841404 CA68200903	1095	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs144684431 CA2212810	1096	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA68200897 rs935769696	1096	R>H		No	ClinGen TOPMed gnomAD
CA351341023 rs1575237641	1097	H>P		No	ClinGen Ensembl
CA351341009 rs1421908907	1098	P>R		No	ClinGen TOPMed
CA68200887 rs760066997	1104	L>M		No	ClinGen Ensembl
CA351340943 rs1254384240	1104	L>R		No	ClinGen gnomAD
rs201337454 CA351340935	1105	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201337454 CA2212809	1105	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs760698873 CA2212808	1106	S>N		No	ClinGen ExAC TOPMed gnomAD
rs1334119441 CA351340894	1108	I>M		No	ClinGen TOPMed
CA2212806 rs772254456	1108	I>V		No	ClinGen ExAC gnomAD
CA351340875 rs1286089009	1110	R>*		No	ClinGen TOPMed gnomAD
CA351340877 rs1286089009	1110	R>G		No	ClinGen TOPMed gnomAD
CA2212805 rs762076400	1110	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1237105563 CA351339237	1113	V>A		No	ClinGen gnomAD
rs745681548 CA2212754	1113	V>M		No	ClinGen ExAC gnomAD
rs374823988 CA2212753	1116	V>M		No	ClinGen ESP ExAC gnomAD
CA2212752 rs142827509	1117	G>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM236816 CA351339175 COSM236815 rs1375013740	1120	R>C	prostate [Cosmic]	No	ClinGen cosmic curated TOPMed gnomAD
CA2212751 RCV000918104 rs150127553	1120	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2212749 rs758544347	1125	I>T		No	ClinGen ExAC gnomAD
rs752899994 CA2212747	1127	R>C		No	ClinGen ExAC TOPMed gnomAD
rs370099607 CA2212745	1127	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA2212746 rs370099607	1127	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs754287737 CA2212744	1133	N>T		No	ClinGen ExAC gnomAD
CA351339030 rs1575229070	1134	I>T		No	ClinGen Ensembl
CA2212742 rs761296133	1135	V>M		No	ClinGen ExAC gnomAD
rs914190062 CA68199467	1137	A>T		No	ClinGen TOPMed gnomAD
rs145485934 CA2212739	1138	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs145485934 COSM442628 COSM442627 CA2212738	1138	E>K	breast [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs769465755 CA2212737	1140	F>V		No	ClinGen ExAC gnomAD
CA2212736 rs745630114	1142	I>V		No	ClinGen ExAC gnomAD
rs1348146313 CA351338926	1145	I>L		No	ClinGen gnomAD
rs781012525 CA2212735	1145	I>R		No	ClinGen ExAC gnomAD
CA351338921 rs781012525	1145	I>T		No	ClinGen ExAC gnomAD
rs1348146313 CA351338927	1145	I>V		No	ClinGen gnomAD
CA351338901 rs1388591554	1147	F>V		No	ClinGen gnomAD
rs770760526 CA2212734 COSM1018819 COSM1018818	1149	S>L	endometrium [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs770760526 CA351338877	1149	S>W		No	ClinGen ExAC TOPMed gnomAD
rs777576860 CA2212732	1150	A>T		No	ClinGen ExAC gnomAD
rs964180942 CA68199412	1151	A>T		No	ClinGen TOPMed gnomAD
rs1575228819 CA351338827	1154	E>G		No	ClinGen Ensembl
rs1160268720 CA351338819	1155	R>K		No	ClinGen gnomAD
CA2212730 rs752848450	1156	G>*		No	ClinGen ExAC gnomAD
CA68199406 rs56057015	1156	G>E		No	ClinGen Ensembl
rs779238858 CA2212729	1157	K>R		No	ClinGen ExAC TOPMed gnomAD
CA351338786 rs1295040092	1158	L>*		No	ClinGen TOPMed
rs755294138 CA351338762	1160	Y>C		No	ClinGen ExAC TOPMed
rs755294138 CA2212728	1160	Y>F		No	ClinGen ExAC TOPMed
CA351338713 rs1256127223	1165	T>N		No	ClinGen gnomAD
CA2212726 rs766828977	1166	I>M		No	ClinGen ExAC gnomAD
rs371133886 CA2212727	1166	I>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs761086145 CA2212725	1167	E>K		No	ClinGen ExAC gnomAD
rs377512534 CA2212722	1171	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA68199367 rs267599295	1171	P>S		No	ClinGen Ensembl
rs142226392 CA2212718	1174	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA68199363 rs1054834258	1175	M>T		No	ClinGen gnomAD
COSM1692261 rs746793482 COSM1692262 CA2212716	1178	P>L	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1250403733 CA351337317	1181	G>W		No	ClinGen gnomAD
rs148102267 CA2212678	1182	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs767351698 CA2212679	1182	P>S		No	ClinGen ExAC gnomAD
rs1218381348 CA351337250	1186	M>I		No	ClinGen gnomAD
CA351337232 rs1449692949	1188	S>P		No	ClinGen TOPMed
rs749420303 CA2212675	1190	G>E		No	ClinGen ExAC gnomAD
rs775386666 CA2212674	1191	V>I		No	ClinGen ExAC gnomAD
rs781473332 CA2212671	1193	L>V		No	ClinGen ExAC gnomAD
rs1361367040 CA351337198	1194	Y>C		No	ClinGen gnomAD
CA2212670 rs41266953 COSM210623 COSM210624	1195	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA2212667 rs758861242	1196	L>P		No	ClinGen ExAC gnomAD
CA351337185 rs1472679481	1197	V>I		No	ClinGen gnomAD
CA351337124 rs1559351854	1202	P>A		No	ClinGen Ensembl
VAR_028297 CA2212664 rs10167000	1210	V>M		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA351337014 rs1559351795	1212	A>P		No	ClinGen Ensembl
CA2212663 rs750106237	1213	A>G		No	ClinGen ExAC
CA351337001 rs1440557153	1213	A>T		No	ClinGen gnomAD
CA2212662 rs767261813	1214	I>L		No	ClinGen ExAC gnomAD
CA2212661 rs761744693	1214	I>T		No	ClinGen ExAC gnomAD
rs764152107 CA2212659	1215	H>N		No	ClinGen ExAC TOPMed
rs762743279 CA2212657	1215	H>P		No	ClinGen ExAC gnomAD
CA351336988 rs764152107	1215	H>Y		No	ClinGen ExAC TOPMed
CA2212655 rs769833623	1216	P>L		No	ClinGen ExAC gnomAD
CA351336943 rs776888105	1219	L>V		No	ClinGen ExAC gnomAD
CA351336920 rs1322890188	1221	S>F		No	ClinGen gnomAD
rs1457467594 CA351336914	1222	K>E		No	ClinGen TOPMed gnomAD
CA351336902 rs1360708023	1223	E>K		No	ClinGen Ensembl
CA2212624 rs756977933	1225	M>K		No	ClinGen ExAC TOPMed gnomAD
rs756977933 CA2212623	1225	M>T		No	ClinGen ExAC TOPMed gnomAD
CA351336769 rs1159594264	1228	V>A		No	ClinGen TOPMed gnomAD
CA351336768 rs1159594264	1228	V>G		No	ClinGen TOPMed gnomAD
rs990329623 CA68196492	1228	V>L		No	ClinGen Ensembl
rs145793780 CA2212620	1234	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA351336685 rs1292456462	1236	P>L		No	ClinGen gnomAD
rs752506267 CA2212619	1238	R>K		No	ClinGen ExAC TOPMed gnomAD
rs371384286 CA2212618	1239	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA68196441 rs971349330	1239	R>H		No	ClinGen TOPMed gnomAD
CA351336648 rs1388094779	1240	T>I		No	ClinGen gnomAD
CA2212617 rs754895091	1240	T>P		No	ClinGen ExAC gnomAD
CA2212616 rs557157102	1241	T>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1575213466 CA351336647	1241	T>P		No	ClinGen Ensembl
CA351336606 rs1324011516	1244	K>N		No	ClinGen TOPMed
rs760737461 CA2212614	1246	V>A		No	ClinGen ExAC gnomAD
rs760737461 CA351336590	1246	V>G		No	ClinGen ExAC gnomAD
CA351336586 rs1190795177	1247	T>S		No	ClinGen gnomAD
rs773477493 CA2212613	1248	D>A		No	ClinGen ExAC TOPMed gnomAD
rs773477493 CA351336579	1248	D>G		No	ClinGen ExAC TOPMed gnomAD
CA2212611 rs762120380	1249	P>A		No	ClinGen ExAC TOPMed gnomAD
CA2212610 rs774733627	1249	P>L		No	ClinGen ExAC TOPMed gnomAD
CA351336575 rs762120380	1249	P>T		No	ClinGen ExAC TOPMed gnomAD
rs749747607 CA2212608	1250	W>R		No	ClinGen ExAC TOPMed gnomAD
rs749747607 CA68196365	1250	W>R		No	ClinGen ExAC TOPMed gnomAD
rs1313127289 CA351336563	1251	V>L		No	ClinGen gnomAD
CA351336553 rs1300244821	1252	T>I		No	ClinGen gnomAD
rs776137664 CA2212607	1253	Q>*		No	ClinGen ExAC gnomAD
rs535551889 CA2212606	1254	P>S		No	ClinGen 1000Genomes ExAC gnomAD
rs746495650 CA2212605	1255	V>M		No	ClinGen ExAC gnomAD
CA351336516 rs1559350549	1258	A>V		No	ClinGen Ensembl
rs1368573604 CA351336514	1259	D>N		No	ClinGen gnomAD
CA351336494 rs1304488918	1260	Y>C		No	ClinGen gnomAD
CA351336496 rs1304488918	1260	Y>S		No	ClinGen gnomAD
rs758029075 CA2212603	1262	W>*		No	ClinGen ExAC TOPMed gnomAD
CA2212604 rs777330368	1262	W>*		No	ClinGen ExAC gnomAD
CA68196325 rs1018845603	1263	E>G		No	ClinGen Ensembl
CA351336461 rs1175695478	1263	E>Q		No	ClinGen gnomAD
rs1559350442 CA351336437	1264	E>D		No	ClinGen Ensembl
rs1131293 CA2212601 VAR_028298	1266	F>C		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA2212602 rs1131293	1266	F>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs199503351 CA2212599	1267	R>*		No	ClinGen 1000Genomes TOPMed gnomAD
rs370744882 CA351336408	1267	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA2212598 rs370744882	1267	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs144229247 CA351336383	1269	N>K		No	ClinGen ESP ExAC gnomAD
rs766288028 CA2212596	1270	K>N		No	ClinGen ExAC gnomAD
rs756231456 CA2212595	1271	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1321549490 CA351336309	1272	E>G		No	ClinGen TOPMed gnomAD
rs751867270 CA2212572	1273	S>G		No	ClinGen ExAC TOPMed gnomAD
rs867710969 CA68195944	1276	L>P		No	ClinGen Ensembl
rs751611661 CA2212571	1277	S>C		No	ClinGen ExAC gnomAD
rs753071648 CA2212569	1278	A>T		No	ClinGen ExAC TOPMed gnomAD
rs765866099 CA2212567	1279	A>V		No	ClinGen ExAC TOPMed gnomAD
CA351336231 rs1205946646	1280	S>I		No	ClinGen TOPMed
rs966622597 CA68195882	1283	M>I		No	ClinGen Ensembl
CA351336206 rs909735371	1283	M>L		No	ClinGen TOPMed gnomAD
rs909735371 CA68195889	1283	M>V		No	ClinGen TOPMed gnomAD
rs984413329 CA68195877	1287	S>G		No	ClinGen TOPMed
CA2212565 rs369590455	1287	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA68195866 rs1020853036	1287	S>R		No	ClinGen TOPMed gnomAD
rs1431690570 CA351336131	1290	D>G		No	ClinGen TOPMed
CA2212564 rs771678808	1294	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1471606802 CA351336076	1295	Q>*		No	ClinGen gnomAD
rs1230518035 CA351336038	1298	C>S		No	ClinGen gnomAD
rs1365675862 CA351336029	1299	G>A		No	ClinGen gnomAD
rs1296510366 CA351336013	1300	G>V		No	ClinGen TOPMed gnomAD
CA2212563 rs55860398	1301	P>A		No	ClinGen ExAC TOPMed gnomAD
rs749109586 CA2212560	1302	V>D		No	ClinGen ExAC gnomAD
CA2212561 rs148038387	1302	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA2212559 rs779771072	1303	P>A		No	ClinGen ExAC gnomAD
CA2212557 rs200311696	1305	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1168314385 CA351335918	1310	Q>E		No	ClinGen gnomAD
rs1474237572 CA351335914	1310	Q>R		No	ClinGen gnomAD
CA351335903 rs1248145772	1311	G>V		No	ClinGen gnomAD
rs1575211224 CA351335899	1312	C>R		No	ClinGen Ensembl
CA351335881 rs1199094227	1313	L>F		No	ClinGen TOPMed gnomAD
rs199833369 CA2212554	1314	H>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs199833369 CA2212555	1314	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA68195742 rs368922121	1316	G>A		No	ClinGen Ensembl
CA2212552 rs534349867	1316	G>R		No	ClinGen 1000Genomes ExAC TOPMed
rs534349867 CA351335860	1316	G>W		No	ClinGen 1000Genomes ExAC TOPMed
rs1199774150 CA351335852	1317	D>G		No	ClinGen TOPMed
CA351335856 rs1342733499	1317	D>H		No	ClinGen gnomAD
rs1342733499 CA351335855	1317	D>Y		No	ClinGen gnomAD
rs969517582 CA68195738	1318	P>L		No	ClinGen TOPMed
COSM720878 CA2212550 rs367872189 COSM720877	1319	R>C	lung [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA2212549 rs114285040 RCV000889927	1319	R>H		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs759812741 CA2212547	1323	S>C		No	ClinGen ExAC gnomAD

No associated diseases with Q96RG2

7 regional properties for Q96RG2

Type	Name	Position	InterPro Accession
domain	Protein kinase domain	267 - 520	IPR000719
domain	SH2 domain	146 - 245	IPR000980
domain	Serine-threonine/tyrosine-protein kinase, catalytic domain	268 - 515	IPR001245
domain	SH3 domain	81 - 142	IPR001452
active_site	Tyrosine-protein kinase, active site	382 - 394	IPR008266
binding_site	Protein kinase, ATP binding site	273 - 295	IPR017441
domain	Tyrosine-protein kinase, catalytic domain	267 - 516	IPR020635

Functions

		Description
EC Number	2.7.11.1	Protein-serine/threonine kinases
Subcellular Localization	Cytoplasm Nucleus	Localizes in the nucleus of testis germ cells and in the midpiece of sperm tails
PANTHER Family	PTHR24346	MAP/MICROTUBULE AFFINITY-REGULATING KINASE
PANTHER Subfamily	PTHR24346:SF51	PAS DOMAIN-CONTAINING SERINE_THREONINE-PROTEIN KINASE
PANTHER Protein Class	non-receptor serine/threonine protein kinase protein modifying enzyme
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
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.

5 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
phosphatidylinositol binding	Binding to an inositol-containing glycerophospholipid, i.e. phosphatidylinositol (PtdIns) and its phosphorylated derivatives.
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.

8 GO annotations of biological process

Name	Definition
energy homeostasis	Any process involved in the balance between food intake (energy input) and energy expenditure.
intracellular signal transduction	The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
negative regulation of glycogen biosynthetic process	Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of glycogen.
positive regulation of translation	Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA.
protein autophosphorylation	The phosphorylation by a protein of one or more of its own amino acid residues (cis-autophosphorylation), or residues on an identical protein (trans-autophosphorylation).
protein phosphorylation	The process of introducing a phosphate group on to a protein.
regulation of glucagon secretion	Any process that modulates the frequency, rate or extent of the regulated release of glucagon.
regulation of respiratory gaseous exchange	Any process that modulates the frequency, rate or extent of the process of gaseous exchange between an organism and its environment.

70 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q02066		Abscisic acid-inducible protein kinase	Triticum aestivum (Wheat)	PR
Q08217	PSK2	Serine/threonine-protein kinase PSK2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q5GLH2	TRIB2	Tribbles homolog 2	Bos taurus (Bovine)	SS
Q0VCE3	TRIB3	Tribbles homolog 3	Bos taurus (Bovine)	SS
Q3SZW1	TSSK1B	Testis-specific serine/threonine-protein kinase 1	Bos taurus (Bovine)	PR
Q92519	TRIB2	Tribbles homolog 2	Homo sapiens (Human)	SS
Q96RU7	TRIB3	Tribbles homolog 3	Homo sapiens (Human)	PR
Q14680	MELK	Maternal embryonic leucine zipper kinase	Homo sapiens (Human)	EV
Q96RU8	TRIB1	Tribbles homolog 1	Homo sapiens (Human)	EV
Q15831	STK11	Serine/threonine-protein kinase STK11	Homo sapiens (Human)	PR
Q13131	PRKAA1	5'-AMP-activated protein kinase catalytic subunit alpha-1	Homo sapiens (Human)	EV
P54646	PRKAA2	5'-AMP-activated protein kinase catalytic subunit alpha-2	Homo sapiens (Human)	EV
Q9BXA7	TSSK1B	Testis-specific serine/threonine-protein kinase 1	Homo sapiens (Human)	PR
Q8N5S9	CAMKK1	Calcium/calmodulin-dependent protein kinase kinase 1	Homo sapiens (Human)	SS
Q96L34	MARK4	MAP/microtubule affinity-regulating kinase 4	Homo sapiens (Human)	SS
Q9P0L2	MARK1	Serine/threonine-protein kinase MARK1	Homo sapiens (Human)	EV
Q7KZI7	MARK2	Serine/threonine-protein kinase MARK2	Homo sapiens (Human)	SS
P27448	MARK3	MAP/microtubule affinity-regulating kinase 3	Homo sapiens (Human)	SS
Q8K4K3	Trib2	Tribbles homolog 2	Mus musculus (Mouse)	SS
Q8BRK8	Prkaa2	5'-AMP-activated protein kinase catalytic subunit alpha-2	Mus musculus (Mouse)	SS
Q61241	Tssk1b	Testis-specific serine/threonine-protein kinase 1	Mus musculus (Mouse)	PR
Q8K4K2	Trib3	Tribbles homolog 3	Mus musculus (Mouse)	SS
Q61846	Melk	Maternal embryonic leucine zipper kinase	Mus musculus (Mouse)	PR
O54863	Tssk2	Testis-specific serine/threonine-protein kinase 2	Mus musculus (Mouse)	PR
Q5EG47	Prkaa1	5'-AMP-activated protein kinase catalytic subunit alpha-1	Mus musculus (Mouse)	SS
Q8K4K4	Trib1	Tribbles homolog 1	Mus musculus (Mouse)	SS
Q8CEE6	Pask	PAS domain-containing serine/threonine-protein kinase	Mus musculus (Mouse)	SS
Q28948	PRKAA2	5'-AMP-activated protein kinase catalytic subunit alpha-2	Sus scrofa (Pig)	SS
Q9WTQ6	Trib3	Tribbles homolog 3	Rattus norvegicus (Rat)	SS
Q09137	Prkaa2	5'-AMP-activated protein kinase catalytic subunit alpha-2	Rattus norvegicus (Rat)	EV
P54645	Prkaa1	5'-AMP-activated protein kinase catalytic subunit alpha-1	Rattus norvegicus (Rat)	EV
Q5QNM6	CIPK13	Putative CBL-interacting protein kinase 13	Oryza sativa subsp japonica (Rice)	PR
Q5JLQ9	CIPK30	CBL-interacting protein kinase 30	Oryza sativa subsp japonica (Rice)	PR
Q5N942	SAPK4	Serine/threonine-protein kinase SAPK4	Oryza sativa subsp japonica (Rice)	PR
Q852Q0	OSK3	Serine/threonine protein kinase OSK3	Oryza sativa subsp. japonica (Rice)	SS
Q75LR7	SAPK1	Serine/threonine-protein kinase SAPK1	Oryza sativa subsp japonica (Rice)	PR
Q75H77	SAPK10	Serine/threonine-protein kinase SAPK10	Oryza sativa subsp japonica (Rice)	PR
Q7Y0B9	SAPK8	Serine/threonine-protein kinase SAPK8	Oryza sativa subsp japonica (Rice)	PR
Q7XQP4	SAPK7	Serine/threonine-protein kinase SAPK7	Oryza sativa subsp japonica (Rice)	PR
Q852Q2	OSK1	Serine/threonine protein kinase OSK1	Oryza sativa subsp. japonica (Rice)	SS
Q6ZLP5	CIPK23	CBL-interacting protein kinase 23	Oryza sativa subsp japonica (Rice)	PR
Q0D4J7	SAPK2	Serine/threonine-protein kinase SAPK2	Oryza sativa subsp japonica (Rice)	PR
Q8LIG4	CIPK3	CBL-interacting protein kinase 3	Oryza sativa subsp japonica (Rice)	PR
Q852Q1	OSK4	Serine/threonine protein kinase OSK4	Oryza sativa subsp. japonica (Rice)	SS
Q6ERS4	CIPK16	CBL-interacting protein kinase 16	Oryza sativa subsp japonica (Rice)	PR
P0C5D6	SAPK3	Serine/threonine-protein kinase SAPK3	Oryza sativa subsp japonica (Rice)	PR
Q2RAX3	CIPK33	CBL-interacting protein kinase 33	Oryza sativa subsp japonica (Rice)	PR
Q75V57	SAPK9	Serine/threonine-protein kinase SAPK9	Oryza sativa subsp japonica (Rice)	PR
Q21017	kin-29	Serine/threonine-protein kinase kin-29	Caenorhabditis elegans	SS
P45894	aak-1	5'-AMP-activated protein kinase catalytic subunit alpha-1	Caenorhabditis elegans	SS
Q95ZQ4	aak-2	5'-AMP-activated protein kinase catalytic subunit alpha-2	Caenorhabditis elegans	SS
P43291	SRK2A	Serine/threonine-protein kinase SRK2A	Arabidopsis thaliana (Mouse-ear cress)	PR
Q93VD3	CIPK23	CBL-interacting serine/threonine-protein kinase 23	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9C958	SRK2B	Serine/threonine-protein kinase SRK2B	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9M9E9	SRK2C	Serine/threonine-protein kinase SRK2C	Arabidopsis thaliana (Mouse-ear cress)	PR
O64812	SRK2J	Serine/threonine-protein kinase SRK2J	Arabidopsis thaliana (Mouse-ear cress)	PR
Q2V452	CIPK3	CBL-interacting serine/threonine-protein kinase 3	Arabidopsis thaliana (Mouse-ear cress)	SS
O22971	CIPK13	CBL-interacting serine/threonine-protein kinase 13	Arabidopsis thaliana (Mouse-ear cress)	PR
Q38997	KIN10	SNF1-related protein kinase catalytic subunit alpha KIN10	Arabidopsis thaliana (Mouse-ear cress)	SS
P92958	KIN11	SNF1-related protein kinase catalytic subunit alpha KIN11	Arabidopsis thaliana (Mouse-ear cress)	PR
Q39192	SRK2D	Serine/threonine-protein kinase SRK2D	Arabidopsis thaliana (Mouse-ear cress)	PR
O65554	CIPK6	CBL-interacting serine/threonine-protein kinase 6	Arabidopsis thaliana (Mouse-ear cress)	PR
Q940H6	SRK2E	Serine/threonine-protein kinase SRK2E	Arabidopsis thaliana (Mouse-ear cress)	PR
P43292	SRK2G	Serine/threonine-protein kinase SRK2G	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9LDI3	CIPK24	CBL-interacting serine/threonine-protein kinase 24	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FLZ3	KIN12	SNF1-related protein kinase catalytic subunit alpha KIN12	Arabidopsis thaliana (Mouse-ear cress)	SS
Q9FJ54	CIPK20	CBL-interacting serine/threonine-protein kinase 20	Arabidopsis thaliana (Mouse-ear cress)	PR
Q94CG0	CIPK21	CBL-interacting serine/threonine-protein kinase 21	Arabidopsis thaliana (Mouse-ear cress)	PR
Q9FFP9	SRK2H	Serine/threonine-protein kinase SRK2H	Arabidopsis thaliana (Mouse-ear cress)	PR
Q39193	SRK2I	Serine/threonine-protein kinase SRK2I	Arabidopsis thaliana (Mouse-ear cress)	PR

10	20	30	40	50	60
MEDGGLTAFE	EDQRCLSQSL	PLPVSAEGPA	AQTTAEPSRS	FSSAHRHLSR	RNGLSRLCQS
70	80	90	100	110	120
RTALSEDRWS	SYCLSSLAAQ	NICTSKLHCP	AAPEHTDPSE	PRGSVSCCSL	LRGLSSGWSS
130	140	150	160	170	180
PLLPAPVCNP	NKAIFTVDAK	TTEILVANDK	ACGLLGYSSQ	DLIGQKLTQF	FLRSDSDVVE
190	200	210	220	230	240
ALSEEHMEAD	GHAAVVFGTV	VDIISRSGEK	IPVSVWMKRM	RQERRLCCVV	VLEPVERVST
250	260	270	280	290	300
WVAFQSDGTV	TSCDSLFAHL	HGYVSGEDVA	GQHITDLIPS	VQLPPSGQHI	PKNLKIQRSV
310	320	330	340	350	360
GRARDGTTFP	LSLKLKSQPS	SEEATTGEAA	PVSGYRASVW	VFCTISGLIT	LLPDGTIHGI
370	380	390	400	410	420
NHSFALTLFG	YGKTELLGKN	ITFLIPGFYS	YMDLAYNSSL	QLPDLASCLD	VGNESGCGER
430	440	450	460	470	480
TLDPWQGQDP	AEGGQDPRIN	VVLAGGHVVP	RDEIRKLMES	QDIFTGTQTE	LIAGGQLLSC
490	500	510	520	530	540
LSPQPAPGVD	NVPEGSLPVH	GEQALPKDQQ	ITALGREEPV	AIESPGQDLL	GESRSEPVDV
550	560	570	580	590	600
KPFASCEDSE	APVPAEDGGS	DAGMCGLCQK	AQLERMGVSG	PSGSDLWAGA	AVAKPQAKGQ
610	620	630	640	650	660
LAGGSLLMHC	PCYGSEWGLW	WRSQDLAPSP	SGMAGLSFGT	PTLDEPWLGV	ENDREELQTC
670	680	690	700	710	720
LIKEQLSQLS	LAGALDVPHA	ELVPTECQAV	TAPVSSCDLG	GRDLCGGCTG	SSSACYALAT
730	740	750	760	770	780
DLPGGLEAVE	AQEVDVNSFS	WNLKELFFSD	QTDQTSSNCS	CATSELRETP	SSLAVGSDPD
790	800	810	820	830	840
VGSLQEQGSC	VLDDRELLLL	TGTCVDLGQG	RRFRESCVGH	DPTEPLEVCL	VSSEHYAASD
850	860	870	880	890	900
RESPGHVPST	LDAGPEDTCP	SAEEPRLNVQ	VTSTPVIVMR	GAAGLQREIQ	EGAYSGSCYH
910	920	930	940	950	960
RDGLRLSIQF	EVRRVELQGP	TPLFCCWLVK	DLLHSQRDSA	ARTRLFLASL	PGSTHSTAAE
970	980	990	1000	1010	1020
LTGPSLVEVL	RARPWFEEPP	KAVELEGLAA	CEGEYSQKYS	TMSPLGSGAF	GFVWTAVDKE
1030	1040	1050	1060	1070	1080
KNKEVVVKFI	KKEKVLEDCW	IEDPKLGKVT	LEIAILSRVE	HANIIKVLDI	FENQGFFQLV
1090	1100	1110	1120	1130	1140
MEKHGSGLDL	FAFIDRHPRL	DEPLASYIFR	QLVSAVGYLR	LKDIIHRDIK	DENIVIAEDF
1150	1160	1170	1180	1190	1200
TIKLIDFGSA	AYLERGKLFY	TFCGTIEYCA	PEVLMGNPYR	GPELEMWSLG	VTLYTLVFEE
1210	1220	1230	1240	1250	1260
NPFCELEETV	EAAIHPPYLV	SKELMSLVSG	LLQPVPERRT	TLEKLVTDPW	VTQPVNLADY
1270	1280	1290	1300	1310	1320
TWEEVFRVNK	PESGVLSAAS	LEMGNRSLSD	VAQAQELCGG	PVPGEAPNGQ	GCLHPGDPRL

LTS