AiPD: Autoinhibited Protein Database

Q9Y4R8

Gene name	TELO2 (KIAA0683)
Protein name	Telomere length regulation protein TEL2 homolog
Names	Protein clk-2 homolog, hCLK2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9894
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

452-525 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

452-525 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

4 structures for Q9Y4R8

Entry ID	Method	Resolution	Chain	Position	Source
4PSI	X-ray	245 A	D/E	489-498	PDB
7F4U	EM	420 A	A	1-837	PDB
7OLE	EM	341 A	K	1-455	PDB
AF-Q9Y4R8-F1	Predicted				AlphaFoldDB

898 variants for Q9Y4R8

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV002524711 CA7811524 rs144863771 RCV000420665	11	A>D	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs140903666 CA7811523 RCV000894112 RCV002539424	11	A>T	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7811569 RCV000913834 RCV003153880 rs199863486	80	H>N	TELO2-related intellectual disability-neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001249831 CA7811624 RCV000486946 rs187225056	131	G>D	TELO2-related intellectual disability-neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA10581573 rs878853272 RCV000225207	172	Q>*	TELO2-related intellectual disability-neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000225304 VAR_077025 rs369656775 RCV002516248 CA10581571	260	P>L	TELO2-related intellectual disability-neurodevelopmental disorder YHFS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP dbSNP gnomAD
RCV001266467 CA394210192 rs1319904932	310	L>I	Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001854789 RCV000826054 rs202020308 CA7811938 VAR_077026 RCV000225284	367	C>F	TELO2-related intellectual disability-neurodevelopmental disorder YHFS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
rs200293618 CA7811948 RCV001336323 RCV003169573 RCV002546774	377	R>W	Variant assessed as Somatic; 4.853e-05 impact. TELO2-related intellectual disability-neurodevelopmental disorder Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs199748546 CA7812117 RCV001336324 RCV002547354	461	T>M	TELO2-related intellectual disability-neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001336325 rs2039707751	492	D>E	TELO2-related intellectual disability-neurodevelopmental disorder [ClinVar]	Yes	ClinVar dbSNP
RCV002524061 CA7812330 RCV000496041 RCV001554922 rs142217951	591	V>G	TELO2-related intellectual disability-neurodevelopmental disorder Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_077027 RCV000225121 rs754162070 RCV000428453 CA10581572 COSM967344	609	R>H	Variant assessed as Somatic; impact. endometrium TELO2-related intellectual disability-neurodevelopmental disorder YHFS [NCI-TCGA, Cosmic, ClinVar, UniProt]	Yes	ClinGen cosmic curated ClinVar UniProt ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs147858841 CA7812410 RCV001266465 RCV002537689	658	A>V	Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001330904 rs150934316 RCV002546423 CA7812424	668	R>Q	TELO2-related intellectual disability-neurodevelopmental disorder [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000225104 RCV000734871 VAR_077028 CA10581570 rs878853271	720	D>V	TELO2-related intellectual disability-neurodevelopmental disorder YHFS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV001252903 CA394219216 rs1207905439	723	V>F	Microcephaly [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA7812619 RCV000225221 rs371675497 VAR_077029 RCV001589164 RCV001814974	766	V>M	TELO2-related intellectual disability-neurodevelopmental disorder YHFS [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
RCV001332107 rs2040070431	817	A>T	TELO2-related intellectual disability-neurodevelopmental disorder [ClinVar]	Yes	ClinVar dbSNP
rs150708429 CA7811514	2	E>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs150708429 CA7811513	2	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs150708429 CA7811515	2	E>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7811517 rs764349331	3	P>L		No	ClinGen ExAC gnomAD
CA7811516 rs763385864	3	P>S		No	ClinGen ExAC gnomAD
CA394205133 rs763385864	3	P>T		No	ClinGen ExAC gnomAD
rs1350701995 CA394205141	4	A>V		No	ClinGen gnomAD
rs61742313 CA394205145	5	P>L		No	ClinGen ExAC TOPMed gnomAD
rs61742313 CA7811519	5	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1291090504 CA394205144	5	P>S		No	ClinGen TOPMed gnomAD
rs2667661 VAR_038752 CA7811521	7	E>G		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7811520 VAR_061839 rs2667660	7	E>Q		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs35400877 CA276648696	7	E>R		No	ClinGen Ensembl
rs1337441950 CA394205161	8	V>I		No	ClinGen gnomAD
rs1206998952 CA394205166	9	R>*		No	ClinGen gnomAD
CA7811522 rs756106416	9	R>P		No	ClinGen ExAC gnomAD
rs140903666 CA394205176	11	A>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7811526 rs778821696	12	V>I		No	ClinGen ExAC gnomAD
rs1428435780 CA394205186	13	R>P		No	ClinGen TOPMed gnomAD
rs1428435780 CA394205185	13	R>Q		No	ClinGen TOPMed gnomAD
rs147956048 CA7811528	13	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	14	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1384203597 CA394205198	15	A>T		No	ClinGen TOPMed
CA7811529 rs777809177	18	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA276648780 rs903711508	19	L>I		No	ClinGen gnomAD
rs913165087 CA276648791	20	S>L		No	ClinGen TOPMed gnomAD
CA7811532 rs146786272	21	S>C		No	ClinGen 1000Genomes ExAC gnomAD
rs776407188 CA7811533	22	S>L		No	ClinGen ExAC gnomAD
RCV000971413 CA7811534 rs139642236	25	G>D		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA394205268 rs1254473297	26	G>V		No	ClinGen gnomAD
rs922596351 CA276648820	28	I>V		No	ClinGen TOPMed
rs934106371 CA276648821	29	F>L		No	ClinGen TOPMed
rs774678096 CA7811536	31	T>I		No	ClinGen ExAC TOPMed gnomAD
CA7811540 rs760865939	34	S>F		No	ClinGen ExAC gnomAD
rs564287048 CA7811539	34	S>T		No	ClinGen 1000Genomes ExAC gnomAD
CA7811543 rs754129081	36	K>N		No	ClinGen ExAC gnomAD
rs766364096 CA7811542	36	K>R		No	ClinGen ExAC gnomAD
CA7811544 rs759653577	37	R>L		No	ClinGen ExAC gnomAD
rs1466279011 CA394205332	37	R>W		No	ClinGen TOPMed gnomAD
CA276648871 rs1023632443	39	L>F		No	ClinGen gnomAD
TCGA novel	39	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7811547 rs533351630	40	G>C		No	ClinGen 1000Genomes ExAC gnomAD
rs533351630 CA7811546	40	G>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7811550 CA394205389 rs751442052	42	M>I		No	ClinGen ExAC gnomAD
rs777862163 CA7811548	42	M>V		No	ClinGen ExAC gnomAD
rs1312578043 CA394205419	44	P>L		No	ClinGen gnomAD
CA394205425 rs1360701911	45	P>S		No	ClinGen TOPMed
CA394205431 rs1596246923	46	A>T		No	ClinGen Ensembl
rs567131148 CA7811551	46	A>V		No	ClinGen 1000Genomes ExAC TOPMed
rs906860209 CA276648907	47	L>P		No	ClinGen TOPMed
CA7811553 rs745586183	48	P>L		No	ClinGen ExAC gnomAD
rs1393310321 CA394205470	49	R>M		No	ClinGen TOPMed
rs1393310321 CA394205469	49	R>T		No	ClinGen TOPMed
TCGA novel	51	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	51	K>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468456409 CA394205510	52	E>Q		No	ClinGen gnomAD
rs1189822910 CA394205531	53	E>*		No	ClinGen gnomAD
TCGA novel	53	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394205549 rs1427643761	53	E>V		No	ClinGen gnomAD
rs769461559 CA7811555	55	A>P		No	ClinGen ExAC TOPMed gnomAD
rs769461559 CA394205572	55	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7811556 rs779643364	56	S>L		No	ClinGen ExAC gnomAD
rs1157834393 CA394205582	56	S>P		No	ClinGen gnomAD
CA7811557 rs748517878	57	A>S		No	ClinGen ExAC gnomAD
CA394205592 rs1320723779	57	A>V		No	ClinGen gnomAD
rs1393603480 CA394205597	58	H>R		No	ClinGen gnomAD
rs772364890 CA7811558	60	S>L		No	ClinGen ExAC TOPMed gnomAD
rs772364890 CA276648971	60	S>W		No	ClinGen ExAC TOPMed gnomAD
CA7811561 rs535792327	61	P>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1223013174 CA394205622	62	V>A		No	ClinGen gnomAD
CA7811562 rs776593883	63	L>F		No	ClinGen ExAC TOPMed gnomAD
rs776593883 CA394205625	63	L>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	64	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7811564 rs141008024 RCV000435424	65	C>S		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs373286620 CA7811565	67	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1334293108 CA394205651	67	A>P		No	ClinGen gnomAD
rs373286620 CA394205653	67	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1248974315 CA394205655	68	S>G		No	ClinGen TOPMed gnomAD
CA394205675 rs1177049184	71	S>G		No	ClinGen gnomAD
CA394205693 rs1473393358	73	A>S		No	ClinGen gnomAD
CA7811566 rs762903613	74	W>G		No	ClinGen ExAC gnomAD
rs763980364 CA7811567	75	L>R		No	ClinGen ExAC gnomAD
rs1310583615 CA394205729	76	E>D		No	ClinGen TOPMed
CA276649041 rs766344537	76	E>K		No	ClinGen Ensembl
rs1405830147 CA394205748	79	P>S		No	ClinGen TOPMed
CA276649083 rs781136824 CA7811570	80	H>Q		No	ClinGen ExAC gnomAD
CA7811571 rs749934895	81	G>S		No	ClinGen ExAC gnomAD
rs755556339 CA7811572	82	R>C		No	ClinGen ExAC TOPMed gnomAD
rs1289255572 CA394205779	82	R>H		No	ClinGen TOPMed gnomAD
rs1289255572 CA394205782	82	R>L		No	ClinGen TOPMed gnomAD
TCGA novel	88	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs779695593 CA7811573	88	A>T		No	ClinGen ExAC gnomAD
CA276649088 rs1015096848	90	F>L		No	ClinGen TOPMed gnomAD
CA394205883 rs1272996905	92	L>P		No	ClinGen gnomAD
CA7811576 rs777976113	93	E>K		No	ClinGen ExAC gnomAD
CA7811578 rs771370067	95	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7811579 rs771370067	95	P>R		No	ClinGen ExAC TOPMed gnomAD
rs769977740 CA7811582	96	A>E		No	ClinGen ExAC TOPMed gnomAD
rs769977740 CA394205922	96	A>G		No	ClinGen ExAC TOPMed gnomAD
rs769977740 CA7811581	96	A>V		No	ClinGen ExAC TOPMed gnomAD
CA276649151 rs975820288	99	A>V		No	ClinGen Ensembl
rs764033312 CA7811584	100	F>L		No	ClinGen ExAC gnomAD
CA394205972 rs1207466197	101	L>P		No	ClinGen TOPMed
rs774040108 CA7811585	101	L>V		No	ClinGen ExAC gnomAD
CA394205976 rs761631210	102	V>L		No	ClinGen ExAC gnomAD
rs761631210 CA7811586	102	V>M		No	ClinGen ExAC gnomAD
CA394205992 rs1460018248	103	L>S		No	ClinGen TOPMed
rs755679172 CA7811589	108	E>D		No	ClinGen ExAC gnomAD
CA394206073 rs1340157275	108	E>K		No	ClinGen gnomAD
CA394206079 rs1340157275	108	E>Q		No	ClinGen gnomAD
CA7811591 rs753537299	110	A>G		No	ClinGen ExAC gnomAD
rs370633221 CA276649168	110	A>P		No	ClinGen Ensembl
rs754646240 CA394206131	111	A>G		No	ClinGen ExAC TOPMed gnomAD
rs754646240 CA7811592	111	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7811594 rs557091805	112	G>D		No	ClinGen 1000Genomes ExAC gnomAD
rs778586069 CA7811593	112	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7811608 rs753375943	113	P>L		No	ClinGen ExAC gnomAD
CA394206637 rs753375943	113	P>R		No	ClinGen ExAC gnomAD
rs1456771813 CA394206633	113	P>S		No	ClinGen gnomAD
rs747764029 CA276649895	116	R>G		No	ClinGen ExAC TOPMed gnomAD
rs747764029 CA7811610	116	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7811611 rs752377660	118	M>I		No	ClinGen ExAC TOPMed gnomAD
CA276649910 rs771820541	119	K>*		No	ClinGen Ensembl
rs1439072161 CA394206683	120	M>I		No	ClinGen TOPMed gnomAD
CA394206678 rs1329649278	120	M>V		No	ClinGen gnomAD
rs757625861 CA7811612	121	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs781593894 COSM1376011 CA7811613	121	A>V	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7811616 rs371708341	122	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7811615 rs756714369	122	R>W		No	ClinGen ExAC TOPMed gnomAD
CA394206701 rs1457436857	123	L>Q		No	ClinGen TOPMed gnomAD
CA7811617 rs749384849	125	A>D		No	ClinGen ExAC gnomAD
rs951504515 CA276649971	125	A>T		No	ClinGen TOPMed
CA394206743 rs768724571	126	R>S		No	ClinGen ExAC gnomAD
rs779063796 CA7811619	127	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1472415108 CA394206751	127	F>V		No	ClinGen gnomAD
rs771811424 CA7811621	129	R>C		No	ClinGen ExAC gnomAD
rs1163128401 CA394206775	129	R>H		No	ClinGen gnomAD
CA394206787 rs1388885184	130	E>*		No	ClinGen gnomAD
CA394206789 rs1324666317	130	E>A		No	ClinGen gnomAD
RCV001303181 CA7811623 rs760420846	130	E>D		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA394206783 rs1388885184	130	E>K		No	ClinGen gnomAD
rs776490787 CA394206810	132	R>G		No	ClinGen ExAC TOPMed gnomAD
CA394206816 rs759021747	132	R>L		No	ClinGen ExAC gnomAD
CA7811626 rs759021747	132	R>Q		No	ClinGen ExAC gnomAD
CA7811625 rs776490787	132	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7811628 rs546381064	134	A>S		No	ClinGen 1000Genomes ExAC gnomAD
rs546381064 CA394206832	134	A>T		No	ClinGen 1000Genomes ExAC gnomAD
rs762648784 CA7811629	135	V>A		No	ClinGen ExAC gnomAD
rs1478549683 CA394206838	135	V>L		No	ClinGen TOPMed
CA394206860 rs1481967741	137	M>L		No	ClinGen gnomAD
rs1049993669 CA276650029	139	A>T		No	ClinGen gnomAD
CA7811630 rs566609528	139	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1187013377 CA394206908	140	Q>*		No	ClinGen gnomAD
rs1367204087 CA394206917	140	Q>R		No	ClinGen gnomAD
rs1164802666 CA394206934	141	C>F		No	ClinGen TOPMed gnomAD
rs750853011 CA7811631	141	C>R		No	ClinGen ExAC TOPMed gnomAD
CA394206932 rs1164802666	141	C>Y		No	ClinGen TOPMed gnomAD
CA7811633 rs554969175	142	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs535065684 CA7811632	142	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs754383791 CA7811634	143	Q>*		No	ClinGen ExAC gnomAD
rs568782545 CA7811636	144	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs777903892 CA7811639	144	Q>H		No	ClinGen ExAC gnomAD
CA7811638 rs748127959	144	Q>P		No	ClinGen ExAC gnomAD
CA7811637 rs748127959	144	Q>R		No	ClinGen ExAC gnomAD
CA7811640 rs746817237	145	T>A		No	ClinGen ExAC gnomAD
CA7811641 COSM1189130 rs770696909	145	T>M	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7811642 rs770696909	145	T>R		No	ClinGen ExAC TOPMed gnomAD
CA394206985 rs1207108062	146	Q>*		No	ClinGen gnomAD
VAR_038753 CA7811643 rs2235624	146	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs924236269 CA276650091	147	P>L		No	ClinGen TOPMed
rs775091661 CA7811645	148	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7811646 rs557890967	148	G>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7811648 rs751201057	149	F>S		No	ClinGen ExAC gnomAD
CA7811649 rs761180773	150	I>L		No	ClinGen ExAC gnomAD
CA7811650 rs750739463	150	I>M		No	ClinGen ExAC TOPMed gnomAD
rs1448038922 CA394207102	150	I>T		No	ClinGen gnomAD
rs892178086 CA276650145	152	L>P		No	ClinGen Ensembl
CA394207145 rs1300747969	153	R>Q		No	ClinGen TOPMed gnomAD
rs1465189324 CA394207140	153	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA7811652 rs755530817	154	E>G		No	ClinGen ExAC gnomAD
CA394207166 rs1403633194	154	E>K		No	ClinGen gnomAD
rs752825072 CA7811654	155	T>A		No	ClinGen ExAC gnomAD
rs758349535 CA7811655	155	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA394207209 rs1311418590	156	L>V		No	ClinGen gnomAD
CA394207283 rs1596249049	160	V>G		No	ClinGen Ensembl
CA276650155 rs1002099104	160	V>M		No	ClinGen gnomAD
CA394207309 rs1596249056	161	V>G		No	ClinGen Ensembl
CA394207297 rs1484245449	161	V>L		No	ClinGen gnomAD
CA394207287 rs1484245449	161	V>M		No	ClinGen gnomAD
CA7811657 rs747223629	162	A>T		No	ClinGen ExAC
CA276650169 rs553962493 COSM1722790	164	P>L	Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA
rs1463971276 CA394207360	164	P>S		No	ClinGen gnomAD
TCGA novel	167	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394207442 rs1432972710	168	G>D		No	ClinGen gnomAD
rs1420617784 CA394207433	168	G>S		No	ClinGen gnomAD
CA7811662 rs769804543	169	N>K		No	ClinGen ExAC gnomAD
CA7811663 rs148894015	170	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7811664 rs574115070	170	R>H		No	ClinGen 1000Genomes ExAC gnomAD
rs761527874 CA7811667	172	Q>L		No	ClinGen ExAC gnomAD
rs1289408930 CA394207553	173	Q>R		No	ClinGen gnomAD
TCGA novel	174	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394207567 rs1366565448	174	E>K		No	ClinGen gnomAD
rs1366565448 CA394207570	174	E>Q		No	ClinGen gnomAD
CA394207646 rs1461858316	177	A>V		No	ClinGen TOPMed
rs1314201879 CA394207660	178	E>K		No	ClinGen gnomAD
CA7811670 rs375112902	179	F>L		No	ClinGen ESP ExAC gnomAD
rs1171098765 CA394207702 COSM701900	180	F>L	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA394207698 rs1267528003	180	F>S		No	ClinGen gnomAD
CA394207708 rs1442831169	181	P>S		No	ClinGen TOPMed
rs1352834765 CA394207718	182	Q>K		No	ClinGen Ensembl
rs1327203863 CA394207753	186	R>G		No	ClinGen gnomAD
CA394207759 rs1211052823	187	L>V		No	ClinGen TOPMed gnomAD
rs1555469732 RCV000523727	188	L>missing		No	ClinVar dbSNP
rs532008875 CA7811673	189	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM701899 rs764124691 CA276650273	190	E>K	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs764124691 CA7811674	190	E>Q		No	ClinGen ExAC gnomAD
rs976854060 CA276650300	191	E>V		No	ClinGen Ensembl
rs1356589197 CA394207789	192	V>G		No	ClinGen TOPMed
rs757497520 CA7811676	192	V>I		No	ClinGen ExAC gnomAD
CA7811678 rs141647559 RCV000974328	193	V>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7811677 rs781236535	193	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA394207796 rs147163622	194	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1345931692 CA394207797	194	R>Q		No	ClinGen gnomAD
rs147163622 CA7811679	194	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs780098405 CA7811680	195	V>L		No	ClinGen ExAC TOPMed gnomAD
rs780098405 CA276650312	195	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1285569048 CA394207811	197	Q>*		No	ClinGen TOPMed gnomAD
CA394207815 rs1219798184	197	Q>H		No	ClinGen gnomAD
CA276650322 rs768321499	198	A>G		No	ClinGen ExAC TOPMed gnomAD
CA276650321 rs926165620 COSM701898	198	A>T	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA7811683 rs768321499	198	A>V		No	ClinGen ExAC TOPMed gnomAD
CA394207823 rs1384628393	199	V>A		No	ClinGen TOPMed
rs1384628393 CA394207824	199	V>G		No	ClinGen TOPMed
rs1249187214 CA394207828	200	V>L		No	ClinGen gnomAD
rs201399424 CA7811686	201	D>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1163915310 CA394207832	201	D>N		No	ClinGen TOPMed
rs201399424 CA7811687	201	D>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394207844 rs1177351420	203	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA394207848 rs1412947549	203	L>P		No	ClinGen gnomAD
rs1421931424 CA394207855	204	Q>R		No	ClinGen gnomAD
rs1181426136 CA394207858	205	G>S		No	ClinGen TOPMed
rs766521956 CA7811736	208	D>E		No	ClinGen ExAC gnomAD
CA7811735 rs142753188	208	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs142753188 CA7811734	208	D>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1455239037 CA394207896	209	S>F		No	ClinGen TOPMed
rs1224790952 CA394207907	211	V>G		No	ClinGen TOPMed gnomAD
COSM967339 CA7811739 rs758024477	211	V>M	Variant assessed as Somatic; 4.635e-05 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1461969324 CA394207908	212	S>T		No	ClinGen gnomAD
CA394207928 rs752726244	214	V>L		No	ClinGen ExAC TOPMed gnomAD
CA7811740 rs752726244	214	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7811741 rs758288209	215	S>F		No	ClinGen ExAC gnomAD
CA276652303 rs915405754	216	Q>H		No	ClinGen gnomAD
CA394207971 rs1281734309	218	L>I		No	ClinGen TOPMed
CA7811742 rs764049359	218	L>P		No	ClinGen ExAC gnomAD
rs1213087591 CA394207990	219	G>E		No	ClinGen TOPMed
CA394208040 rs1340187636	222	C>R		No	ClinGen TOPMed
rs371686195 CA7811744	225	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs745519670 CA7811746	226	R>K		No	ClinGen ExAC gnomAD
CA394208150 rs1362329191	226	R>S		No	ClinGen TOPMed
rs139365746 CA7811747 CA276652339	227	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
COSM1228910 rs1401617204 CA394208186	228	Q>*	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel rs1393362030 CA394209105	229	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA ClinGen TOPMed
CA7811765 RCV000910223 rs563480879	229	E>G		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA394209141 rs1596252822	231	L>R		No	ClinGen Ensembl
rs1454867369 CA394209152	232	G>D		No	ClinGen TOPMed
rs1194316009 CA394209145	232	G>S		No	ClinGen gnomAD
rs915419523 RCV000425158 CA16607234	233	V>M		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA7811767 rs368678190	235	V>I		No	ClinGen ESP ExAC gnomAD
rs1446819953 CA394209203	236	P>A		No	ClinGen gnomAD
rs200398568 CA276652531	236	P>L		No	ClinGen Ensembl
CA394209219 rs1389149572	237	R>G		No	ClinGen TOPMed gnomAD
CA7811769 rs778209728	237	R>P		No	ClinGen ExAC TOPMed gnomAD
CA394209224 rs778209728	237	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1389149572 CA394209222	237	R>W		No	ClinGen TOPMed gnomAD
rs1396514905 CA394209242	238	L>P		No	ClinGen gnomAD
rs1299527279 CA394209234	238	L>V		No	ClinGen gnomAD
CA394209247 rs1395002265	239	A>T		No	ClinGen gnomAD
CA7811771 rs747518117	240	A>G		No	ClinGen ExAC TOPMed gnomAD
rs747518117 CA7811770	240	A>V		No	ClinGen ExAC TOPMed gnomAD
CA394209286 rs1555470189	242	T>N		No	ClinGen Ensembl
rs1596252929 CA394209280	242	T>P		No	ClinGen Ensembl
CA7811773 rs745899795	243	Q>R		No	ClinGen ExAC gnomAD
rs770142452 CA7811774	244	G>D		No	ClinGen ExAC gnomAD
CA394209321 rs1567294727	245	S>G		No	ClinGen Ensembl
CA394209331 rs1339840237	245	S>R		No	ClinGen TOPMed gnomAD
CA394209342 rs1225433959	246	Y>C		No	ClinGen gnomAD
CA394209375 rs1567294771	249	Q>E		No	ClinGen Ensembl
rs775727551 CA7811775	250	R>C		No	ClinGen ExAC TOPMed gnomAD
rs537015981 CA7811776	250	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7811778 rs775604244	251	V>I		No	ClinGen ExAC TOPMed gnomAD
rs374512269 COSM967340 CA7811781	254	R>C	endometrium [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs377187738 CA7811782	254	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
rs374512269 CA394209439	254	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7811783 rs766076947	255	L>P		No	ClinGen ExAC gnomAD
rs1407688277 CA394209455	256	V>M		No	ClinGen gnomAD
rs1351629494 CA394209480	257	E>G		No	ClinGen gnomAD
rs753522284 CA7811784	258	Q>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel CA394209513 rs1596253076	260	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA Ensembl
CA394209529 rs1297992507	261	D>V		No	ClinGen gnomAD
rs144404823 CA7811787	262	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs778177264 CA7811786	262	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7811788 rs757866613	263	A>D		No	ClinGen ExAC gnomAD
CA394209543 rs1261287599	263	A>T		No	ClinGen gnomAD
CA394209555 rs1268110117	264	M>V		No	ClinGen TOPMed gnomAD
CA394209577 rs1485093432	266	A>T		No	ClinGen TOPMed gnomAD
rs745961471 CA7811790	267	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7811792 rs780212089	269	T>A		No	ClinGen ExAC gnomAD
rs886562354 CA276652723	270	G>R		No	ClinGen gnomAD
rs143641605 CA7811794	272	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394209623 rs143641605	272	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394209617 rs1008977835	272	V>L		No	ClinGen gnomAD
rs1008977835 CA276652724	272	V>M		No	ClinGen gnomAD
CA7811795 rs774217929	273	E>K		No	ClinGen ExAC TOPMed gnomAD
CA276652726 rs913661476	274	A>P		No	ClinGen TOPMed
rs1281622827 CA394209652	274	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs772002953 CA7811797	275	A>T		No	ClinGen ExAC TOPMed gnomAD
CA394209662 rs1288234691	275	A>V		No	ClinGen gnomAD
CA7811799 rs370884980	276	L>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7811818 RCV000902608 rs148740663	278	P>A		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA394209897 rs1200219699	282	S>L		No	ClinGen TOPMed
TCGA novel	282	S>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	283	R>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7811821 rs775266511	284	L>V		No	ClinGen ExAC TOPMed gnomAD
CA394209931 TCGA novel rs1488729515	286	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed NCI-TCGA
TCGA novel	289	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs751021623 CA7811824	293	K>Q		No	ClinGen ExAC TOPMed gnomAD
rs1342627013 CA394210030	293	K>T		No	ClinGen TOPMed
rs370018942 CA276654571	297	F>L		No	ClinGen ESP
CA394210090 rs1213560104	298	V>L		No	ClinGen gnomAD
CA394210099 rs1381222589	299	M>T		No	ClinGen gnomAD
rs766757086 CA7811826	300	T>I		No	ClinGen ExAC
rs753958889 CA7811827	301	Q>H		No	ClinGen ExAC gnomAD
CA7811829 rs779259878	305	F>V		No	ClinGen ExAC gnomAD
CA7811831 rs758238068	308	S>F		No	ClinGen ExAC TOPMed gnomAD
rs144312433 CA7811833	309	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7811832 rs373899324	309	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1167542668	311	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7811834 rs200185348	311	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
CA394210208 rs200185348	311	T>R		No	ClinGen 1000Genomes ExAC gnomAD
CA7811866 rs752774564	312	T>A		No	ClinGen ExAC TOPMed gnomAD
rs1017883214 CA394211032	312	T>K		No	ClinGen TOPMed gnomAD
CA276656286 rs1017883214	312	T>M		No	ClinGen TOPMed gnomAD
rs764354064 CA7811868	313	P>S		No	ClinGen ExAC TOPMed gnomAD
rs118041797 RCV000968487 CA7811869	317	S>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1596257389 CA394211120	320	G>S		No	ClinGen Ensembl
rs780829741 CA7811871	321	H>R		No	ClinGen ExAC gnomAD
TCGA novel	321	H>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs750187494 CA7811872	323	A>P		No	ClinGen ExAC gnomAD
CA394211161 rs750187494	323	A>S		No	ClinGen ExAC gnomAD
rs756156353 CA7811873	323	A>V		No	ClinGen ExAC gnomAD
TCGA novel	324	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394211181 rs1236741413	325	D>N		No	ClinGen TOPMed gnomAD
rs748821587 CA7811875	326	S>G		No	ClinGen ExAC TOPMed gnomAD
CA276656305 rs893430933	326	S>N		No	ClinGen Ensembl
rs780458249 CA7811877	328	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs140327619 CA7811876	328	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs376477414 CA7811878	329	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs370184610 CA7811879	329	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7811880 rs372262384	330	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1437341412 CA394211252	330	P>S		No	ClinGen gnomAD
rs770294346 CA7811882	331	L>F		No	ClinGen ExAC gnomAD
rs770294346 CA394211262	331	L>V		No	ClinGen ExAC gnomAD
CA394211283 rs1163407778	333	L>R		No	ClinGen gnomAD
CA7811912 rs752158199	335	V>L		No	ClinGen ExAC gnomAD
rs752158199 CA394211356	335	V>M		No	ClinGen ExAC gnomAD
CA394211390 rs1341183898	337	K>N		No	ClinGen gnomAD
CA394211393 rs1223023193	338	E>*		No	ClinGen gnomAD
CA394211395 rs1223023193	338	E>K		No	ClinGen gnomAD
rs1281921891 CA394211401	338	E>V		No	ClinGen gnomAD
rs150372508 CA7811916	342	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1288043934 CA394211458	343	W>G		No	ClinGen TOPMed
CA276656577 rs1025941588	343	W>S		No	ClinGen Ensembl
rs769048090 CA7811919	344	G>D		No	ClinGen ExAC TOPMed gnomAD
CA394211501 rs1490042886	346	S>C		No	ClinGen gnomAD
rs1196729300 CA394211503	346	S>N		No	ClinGen gnomAD
rs1430805825 CA394211518	347	S>C		No	ClinGen TOPMed gnomAD
rs370700565 CA7811921	347	S>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7811922 rs149032059	350	R>C		No	ClinGen ESP ExAC gnomAD
rs149032059 CA394211557	350	R>G		No	ClinGen ESP ExAC gnomAD
rs772191965 CA7811923	350	R>H		No	ClinGen ExAC TOPMed gnomAD
rs942810844 CA276656611	352	T>A		No	ClinGen Ensembl
CA394211592 rs1187430832	352	T>S		No	ClinGen TOPMed
CA7811925 rs773349401	353	P>H		No	ClinGen ExAC gnomAD
rs766666045 CA7811927	354	L>V		No	ClinGen ExAC gnomAD
rs1220272209 CA394211617	355	P>A		No	ClinGen gnomAD
rs147777945 CA7811928	355	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394211627 rs1241713045	356	Q>*		No	ClinGen gnomAD
rs1219804292 CA394211661	358	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs141078050 CA7811931	358	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA gnomAD
rs757885588 CA7811932	359	H>Y		No	ClinGen ExAC gnomAD
CA7811934 rs371998133	360	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA394211713 rs1420647326	361	S>I		No	ClinGen TOPMed gnomAD
CA394211707 rs1420647326	361	S>N		No	ClinGen TOPMed gnomAD
TCGA novel	361	S>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	362	K>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394211753 rs1567298208	363	A>D		No	ClinGen Ensembl
rs1159086917 CA394211745	363	A>T		No	ClinGen gnomAD
CA394211767 rs1424218563	364	V>I		No	ClinGen gnomAD
rs1296571861 CA394211799	366	I>L		No	ClinGen TOPMed
CA394211802 rs1296571861	366	I>V		No	ClinGen TOPMed
rs374989125 CA394211874	369	A>E		No	ClinGen ESP ExAC gnomAD
rs374989125 CA7811940	369	A>V		No	ClinGen ESP ExAC gnomAD
rs142731932 CA7811943	371	L>I		No	ClinGen ESP ExAC TOPMed
CA394211931 rs1293552598	372	G>E		No	ClinGen TOPMed gnomAD
rs1243259932 CA394211919	372	G>R		No	ClinGen TOPMed gnomAD
rs1293552598 CA394211925	372	G>V		No	ClinGen TOPMed gnomAD
rs1321761785 CA394211940	373	E>G		No	ClinGen gnomAD
rs1460054392 CA394211934	373	E>K		No	ClinGen TOPMed
rs776975166 CA7811945	374	P>L		No	ClinGen ExAC TOPMed gnomAD
CA394211995 rs1179181867	375	E>D		No	ClinGen gnomAD
rs1481539825 CA394211976	375	E>K		No	ClinGen TOPMed gnomAD
rs769599316 CA7811947	376	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1181947637 CA394212024	377	R>Q		No	ClinGen TOPMed gnomAD
TCGA novel	378	D>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763899307 CA7811950	380	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7811949 rs762968076	380	R>W		No	ClinGen ExAC gnomAD
rs778486669 CA7811978	384	L>V		No	ClinGen ExAC TOPMed gnomAD
rs757461365 CA7811980	386	S>N		No	ClinGen ExAC gnomAD
CA276656852 rs776915614	386	S>R		No	ClinGen gnomAD
rs1489308672 CA394212442	387	M>I		No	ClinGen gnomAD
CA394212423 rs1261353270	387	M>L		No	ClinGen gnomAD
rs148133855 CA7811981	388	M>T		No	ClinGen ESP
rs781442364 CA7811983	389	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs900147060 CA276656872	391	V>E		No	ClinGen TOPMed gnomAD
CA7811986 rs747389951	391	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1400537680 CA394212555	392	K>R		No	ClinGen gnomAD
CA276656874 rs1056022419	393	C>R		No	ClinGen TOPMed gnomAD
CA394212595 COSM315867 rs1567298664	394	R>C	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA7811988 rs759864279	394	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA276656892 rs1038130919	395	L>V		No	ClinGen gnomAD
rs774316889 CA7811990	396	D>A		No	ClinGen ExAC TOPMed gnomAD
COSM3672165 rs774316889 CA7811989	396	D>G	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7811995 rs776139039	400	P>H		No	ClinGen ExAC gnomAD
rs776139039 CA394212726	400	P>L		No	ClinGen ExAC gnomAD
CA7811994 rs538706074	400	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	401	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763450868 CA7811996	401	P>S		No	ClinGen ExAC
TCGA novel	402	V>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7811998 rs146959869	402	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	402	V>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7811999 rs572431474	403	R>*		No	ClinGen 1000Genomes ExAC gnomAD
CA394212765 rs1268215382	403	R>Q		No	ClinGen TOPMed gnomAD
rs768071998 CA7812000	404	R>C		No	ClinGen ExAC TOPMed gnomAD
rs750531572 CA7812001	404	R>H		No	ClinGen ExAC TOPMed gnomAD
CA394212787 rs750531572	404	R>L		No	ClinGen ExAC TOPMed gnomAD
CA394212829 rs1469938236	407	M>L		No	ClinGen TOPMed gnomAD
CA394212831 rs1469938236	407	M>V		No	ClinGen TOPMed gnomAD
CA7812003 rs780390606	409	V>A		No	ClinGen ExAC gnomAD
CA394212885 rs1382561245	409	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1363144318 CA394212935	411	E>A		No	ClinGen gnomAD
CA7812006 rs368533684	413	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7812007 rs747900412	415	A>V		No	ClinGen ExAC TOPMed gnomAD
CA394213026 rs1311092240	416	R>Q		No	ClinGen TOPMed gnomAD
rs772007219 CA7812008	416	R>W		No	ClinGen ExAC TOPMed gnomAD
rs201198027 CA276657006	417	I>N		No	ClinGen Ensembl
TCGA novel	418	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7812010 rs746592060	420	E>K		No	ClinGen ExAC TOPMed gnomAD
CA394213124 rs1291371360	421	G>R		No	ClinGen gnomAD
rs1382042770 CA394213141	422	P>S		No	ClinGen TOPMed
rs368284673 CA7812011	423	P>L		No	ClinGen ESP ExAC gnomAD
CA394213206 rs1270286375	425	K>E		No	ClinGen gnomAD
rs769020185 CA7812012	427	Q>R		No	ClinGen ExAC gnomAD
COSM3944380 rs61739605 CA7812060	429	E>K	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs61739605 CA276657833	429	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7812061 rs775498304	429	E>V		No	ClinGen ExAC TOPMed gnomAD
CA276657847 rs200563810	430	E>A		No	ClinGen 1000Genomes gnomAD
CA394213609 rs200563810	430	E>G		No	ClinGen 1000Genomes gnomAD
rs917093799 CA276657852	433	L>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs1440184516 CA394214006	434	S>C		No	ClinGen TOPMed
rs1173375280 CA394214009	434	S>I		No	ClinGen gnomAD
rs61739594 CA7812062 RCV000959253	435	L>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs374647207 CA7812064	436	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs374647207 CA394214017	436	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs139539769 CA7812067	439	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs144270498 CA7812070 RCV000983464	442	S>C		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA7812071 rs144270498	442	S>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs1567299687 CA394214060	443	P>R		No	ClinGen Ensembl
CA394214062 rs770450745	444	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA7812073 rs770450745	444	Q>E		No	ClinGen ExAC TOPMed gnomAD
rs770450745 CA394214063	444	Q>K		No	ClinGen ExAC TOPMed gnomAD
CA394214065 rs1490057728	444	Q>R		No	ClinGen gnomAD
rs758690070	444	Q>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs1170409646 CA394214074	445	P>L		No	ClinGen TOPMed
rs778573781 CA7812074	446	A>V		No	ClinGen ExAC TOPMed gnomAD
rs370665424 CA394214092	448	D>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA276657966 rs776184307	448	D>G		No	ClinGen TOPMed gnomAD
rs1236365549 CA394214088	448	D>Y		No	ClinGen TOPMed
rs145279319 CA7812077	449	G>C		No	ClinGen ESP ExAC gnomAD
rs1418051718 CA394214094	449	G>D		No	ClinGen gnomAD
rs145279319 CA7812078	449	G>S		No	ClinGen ESP ExAC gnomAD
CA394214097 rs1361216075	450	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs148873855 CA7812081	451	S>L	Variant assessed as Somatic; 9.65e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA276658019 rs1013817016	452	E>A		No	ClinGen TOPMed gnomAD
CA394214115 rs1387868183	453	A>T		No	ClinGen gnomAD
rs774629694 CA7812083	453	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs764823412 CA7812109	455	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7812110 rs752105226	455	T>M		No	ClinGen ExAC gnomAD
CA7812113 rs200161628	457	L>P		No	ClinGen 1000Genomes ExAC gnomAD
rs777347859 CA7812112	457	L>V		No	ClinGen ExAC
CA7812114 rs367975943	458	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7812115 rs780467501	459	P>A		No	ClinGen ExAC gnomAD
rs570962268 CA276658274	461	T>A		No	ClinGen 1000Genomes gnomAD
CA7812116 rs199748546	461	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394214252 rs1482865513	464	P>A		No	ClinGen Ensembl
CA394214265 rs1304277066	466	A>T		No	ClinGen gnomAD
rs748175503 CA7812121	467	E>Q		No	ClinGen ExAC gnomAD
CA394214281 rs201880805	468	T>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7812124 rs201880805	468	T>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201880805 CA7812123	468	T>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7812127 rs759546731	469	P>R		No	ClinGen ExAC gnomAD
CA7812126 rs369686723	469	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7812129 rs752263174	470	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs921195859 CA276658371	473	V>G		No	ClinGen TOPMed
rs1483612698 CA394214306	473	V>M		No	ClinGen gnomAD
CA7812133 rs756519824	476	G>A		No	ClinGen ExAC gnomAD
CA7812132 rs374282266	476	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7812135 rs572277163	477	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7812137 rs755516702	478	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7812136 rs755516702	478	P>R		No	ClinGen ExAC TOPMed gnomAD
CA394214347 rs1177781018	478	P>S		No	ClinGen gnomAD
CA7812139 rs748300381	481	Q>*		No	ClinGen ExAC gnomAD
CA7812138 rs748300381	481	Q>K		No	ClinGen ExAC gnomAD
CA7812142 rs200124093	483	A>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs554618494 CA7812145	487	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs554618494 CA7812144	487	S>W		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	489	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7812148 rs150984539	489	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs201438774 CA276658470	491	S>N		No	ClinGen gnomAD
rs1186055137 CA394214588	493	D>H		No	ClinGen TOPMed
CA7812178 rs140861723	497	P>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781516440 CA7812180	499	D>Y		No	ClinGen ExAC gnomAD
rs1438009458 CA394214693	500	M>I		No	ClinGen TOPMed gnomAD
rs1240421061 CA394214684	500	M>V		No	ClinGen gnomAD
rs377430333 CA7812181	501	S>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs965882406 CA276658917	502	G>E		No	ClinGen Ensembl
rs779855280 CA394214710	502	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7812183 rs779855280	502	G>W		No	ClinGen ExAC TOPMed gnomAD
rs1165552272 CA394214723	503	D>Y		No	ClinGen gnomAD
CA394214761 rs1350611631	506	L>V		No	ClinGen TOPMed
rs749018550 CA7812185	508	S>R		No	ClinGen ExAC TOPMed gnomAD
CA7812186 rs768595384	509	S>N		No	ClinGen ExAC gnomAD
CA7812187 rs778812141	511	A>S		No	ClinGen ExAC TOPMed gnomAD
rs778812141 CA394214832	511	A>T		No	ClinGen ExAC TOPMed gnomAD
VAR_061840 rs58099766 RCV000963795 CA7812188	511	A>V		No	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
TCGA novel	512	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394214843 rs1567300731	512	P>S		No	ClinGen Ensembl
rs771455844 CA7812189	513	A>T		No	ClinGen ExAC gnomAD
CA7812190 rs772971145	514	Y>H		No	ClinGen ExAC gnomAD
RCV000955023 rs116528933 CA7812192	515	V>F		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs116528933 CA7812193	515	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763395160 CA276658951	516	R>G		No	ClinGen ExAC TOPMed gnomAD
rs141154049 CA7812195	516	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7812194 rs763395160	516	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1567300809 CA394214922	517	D>E		No	ClinGen Ensembl
CA394214903 rs1567300801	517	D>N		No	ClinGen Ensembl
rs751978549 CA394214925	518	C>G		No	ClinGen ExAC TOPMed gnomAD
rs751978549 CA7812196	518	C>R		No	ClinGen ExAC TOPMed gnomAD
rs1259637248 CA394214943	519	V>G		No	ClinGen gnomAD
CA394214935 rs1253720567	519	V>L		No	ClinGen TOPMed gnomAD
CA394214933 rs1253720567	519	V>M		No	ClinGen TOPMed gnomAD
CA394215086 rs1386711001	521	A>G		No	ClinGen gnomAD
CA394215081 rs1386711001	521	A>V		No	ClinGen gnomAD
CA7812219 rs766656516	523	T>I		No	ClinGen ExAC gnomAD
rs754030851 CA7812220	524	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7812223 rs752465572	527	D>A		No	ClinGen ExAC TOPMed gnomAD
rs778705940 CA7812222	527	D>N		No	ClinGen ExAC TOPMed gnomAD
rs758278038 CA7812224	528	I>V		No	ClinGen ExAC
TCGA novel	529	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7812225 rs564604983	529	E>Q		No	ClinGen 1000Genomes ExAC gnomAD
COSM1189131 rs746564540 CA7812226	530	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs756795932 CA7812228	530	R>H		No	ClinGen ExAC TOPMed gnomAD
CA7812227 rs756795932	530	R>L		No	ClinGen ExAC TOPMed gnomAD
CA394215279 rs1409314305	533	A>V		No	ClinGen TOPMed
CA394215291 rs1225186186	534	A>V		No	ClinGen gnomAD
rs769532584 CA7812231	536	R>Q	Variant assessed as Somatic; 5.155e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7812229 rs745537866	536	R>W		No	ClinGen ExAC TOPMed
CA276659237 rs980958152	538	L>P		No	ClinGen gnomAD
CA394215331 rs1161294569	539	E>K		No	ClinGen gnomAD
CA394215353 rs1215002477	540	G>D		No	ClinGen gnomAD
CA394215350 rs1596262327	540	G>S		No	ClinGen Ensembl
rs749004413 CA7812230	541	L>P		No	ClinGen ExAC TOPMed
rs773767132 CA7812235	543	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs547173216 CA7812236	544	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs547173216 CA7812237	544	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1048818558 CA276659273	546	P>S		No	ClinGen TOPMed gnomAD
CA7812239 rs776646698	547	T>A		No	ClinGen ExAC TOPMed gnomAD
rs765438732 CA7812240	547	T>I		No	ClinGen ExAC TOPMed gnomAD
rs776646698 CA7812238	547	T>P		No	ClinGen ExAC TOPMed gnomAD
rs1225152678 CA394215440	548	A>T		No	ClinGen gnomAD
rs763976769 CA7812245	550	R>P		No	ClinGen ExAC gnomAD
CA7812244 rs763976769	550	R>Q		No	ClinGen ExAC gnomAD
rs758206782 CA7812243	550	R>W		No	ClinGen ExAC TOPMed gnomAD
rs781660660 CA7812273	553	S>N		No	ClinGen ExAC TOPMed gnomAD
CA394215649 rs1261734094	554	V>M		No	ClinGen TOPMed gnomAD
rs770037429 CA276659464	558	K>E		No	ClinGen gnomAD
rs199557070 CA7812277	559	V>M		No	ClinGen ExAC gnomAD
CA7812278 rs768694205	561	L>P		No	ClinGen ExAC gnomAD
CA394215743 rs1375485039	562	H>D		No	ClinGen gnomAD
CA276659470 rs774301574	564	E>K		No	ClinGen ExAC gnomAD
CA7812280 rs774301574	564	E>Q		No	ClinGen ExAC gnomAD
rs761687660 CA7812281	564	E>V		No	ClinGen ExAC gnomAD
rs767631688 CA7812282	565	E>D		No	ClinGen ExAC gnomAD
CA7812284 CA394215808 rs760154550	566	K>N		No	ClinGen ExAC gnomAD
rs138007455 CA7812283	566	K>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs765939101 CA7812285	567	T>I		No	ClinGen ExAC gnomAD
rs1348673734 CA394215849	569	V>A		No	ClinGen gnomAD
CA394215851 rs1215908644	570	V>M		No	ClinGen TOPMed gnomAD
rs1282248719 CA394215870	571	G>E		No	ClinGen gnomAD
rs778519864 CA7812289	574	G>A		No	ClinGen ExAC gnomAD
rs778519864 CA7812288	574	G>E		No	ClinGen ExAC gnomAD
rs754668291 CA7812287 CA394215909	574	G>R		No	ClinGen ExAC gnomAD
CA7812290 rs143321563	576	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7812291 rs779619369	576	R>H		No	ClinGen ExAC TOPMed gnomAD
rs779619369 CA394215931	576	R>L		No	ClinGen ExAC TOPMed gnomAD
rs746407859 CA7812292	579	A>S		No	ClinGen ExAC gnomAD
rs868017096 CA276659521	580	L>R		No	ClinGen Ensembl
rs780186204 CA7812294	581	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1270691150 CA394215971	581	V>L		No	ClinGen TOPMed
rs775272837 CA7812296	583	V>I		No	ClinGen ExAC TOPMed gnomAD
CA276659545 rs868332776	584	T>A		No	ClinGen TOPMed gnomAD
rs774683465 CA7812297	584	T>M		No	ClinGen ExAC TOPMed gnomAD
rs1371910668 CA394216056	586	T>I		No	ClinGen gnomAD
rs867061223 CA276659565	586	T>P		No	ClinGen Ensembl
rs908691393 CA394216082	587	D>E		No	ClinGen gnomAD
rs1596263134 CA394216088	588	P>A		No	ClinGen Ensembl
CA7812299 rs749722771	588	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1215873785	590	P>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7812302 rs74466211	590	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA276659582 rs922945060	590	P>S		No	ClinGen TOPMed gnomAD
rs1277541275 CA394216276	592	A>V		No	ClinGen gnomAD
rs1211499996 CA394216296	593	D>G		No	ClinGen gnomAD
CA7812333 rs779136313	593	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1486905553 CA394216316	594	Y>C		No	ClinGen TOPMed
CA7812334 rs748195819	594	Y>H		No	ClinGen ExAC gnomAD
rs1194979613 CA394216325	595	L>M		No	ClinGen gnomAD
CA394216333 rs1271483502	595	L>P		No	ClinGen TOPMed
CA7812335 rs367997642	596	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1373456863 CA394216339	596	T>S		No	ClinGen gnomAD
rs538338106 CA7812338	598	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs558013839 CA7812339	598	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA7812340 rs766646109	600	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7812344 rs769681361	602	L>F		No	ClinGen ExAC gnomAD
CA394216459 rs1204132834	602	L>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
rs769681361 CA7812345	602	L>V		No	ClinGen ExAC gnomAD
rs973671814 CA276659921	606	L>R		No	ClinGen TOPMed gnomAD
rs200056783 CA7812349	607	R>P		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA7812348 rs200056783	607	R>Q		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA7812347 rs146401595 RCV000895945	607	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA394216532 rs1284691372	608	Q>*		No	ClinGen gnomAD
CA7812350 rs766665093	609	R>C		No	ClinGen ExAC gnomAD
CA7812351 rs754162070	609	R>L		No	ClinGen ExAC TOPMed gnomAD
CA394216615 rs1450889616	612	I>M		No	ClinGen gnomAD
CA276659944 rs1046018259	612	I>N		No	ClinGen TOPMed
rs1167959447 CA394216602	612	I>V		No	ClinGen gnomAD
CA394216648 rs1393443783	614	D>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA394217178 rs1214545670	616	L>V		No	ClinGen gnomAD
rs925168593 CA276662039	617	T>S		No	ClinGen TOPMed
rs139500263 CA276662045	618	L>V		No	ClinGen ESP TOPMed gnomAD
rs1235300479 CA394217201	620	A>G		No	ClinGen gnomAD
CA394217234 rs1462349141	625	R>K		No	ClinGen gnomAD
rs569796710 CA7812383	626	P>S		No	ClinGen 1000Genomes ExAC gnomAD
CA7812384 rs139726833	627	G>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7812386 rs776703564	628	C>Y		No	ClinGen ExAC gnomAD
rs763404686 CA7812389	630	G>E		No	ClinGen ExAC TOPMed gnomAD
rs775933243 CA7812388	630	G>R		No	ClinGen ExAC gnomAD
CA276662093 rs948769737	631	R>G		No	ClinGen Ensembl
CA394217270 rs1596268048	632	T>P		No	ClinGen Ensembl
CA7812390 rs764614683	633	P>L		No	ClinGen ExAC gnomAD
CA276662101 rs774344989	634	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA394217292 rs1206916915	635	P>R		No	ClinGen gnomAD
CA394217305 rs1485424715	637	S>Y		No	ClinGen gnomAD
CA394217307 rs1336743840	638	P>A		No	ClinGen TOPMed
rs1209340170 CA394217311	638	P>L		No	ClinGen gnomAD
rs1475824663 CA394217318	639	S>R		No	ClinGen gnomAD
rs767794865 CA7812393	639	S>T		No	ClinGen ExAC gnomAD
CA7812394 rs750629442	640	P>L		No	ClinGen ExAC TOPMed gnomAD
CA276662130 rs1050653400	641	N>H		No	ClinGen TOPMed
CA394217332 rs1417846174	641	N>T		No	ClinGen gnomAD
rs1596268157 CA394217343	642	T>P		No	ClinGen Ensembl
rs373633187 CA7812398	643	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7812400 rs747647917	645	L>Q		No	ClinGen ExAC TOPMed gnomAD
CA394217409 rs747647917	645	L>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	646	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1596268198 CA394217477	649	A>G		No	ClinGen Ensembl
CA7812403 rs777365699	650	V>F		No	ClinGen ExAC TOPMed gnomAD
rs777365699 CA7812402	650	V>I		No	ClinGen ExAC TOPMed gnomAD
CA7812405 rs776021019	654	G>C		No	ClinGen ExAC gnomAD
CA394217597 rs1347447311	654	G>D		No	ClinGen TOPMed gnomAD
rs1347447311 CA394217602	654	G>V		No	ClinGen TOPMed gnomAD
rs1232096085 CA394217616	655	S>N		No	ClinGen gnomAD
CA7812408 rs144491833	657	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs144491833 CA7812407	657	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7812414 rs753622364	662	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7812415 rs753622364	662	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA7812413 rs376617816	662	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7812416 rs765150564	663	V>G		No	ClinGen ExAC gnomAD
rs758206557 CA7812418	664	V>G		No	ClinGen ExAC gnomAD
rs777459377 CA7812419	665	V>G		No	ClinGen ExAC gnomAD
rs1324978630 CA394218150	666	E>G		No	ClinGen gnomAD
rs1324978630 CA394218151	666	E>V		No	ClinGen gnomAD
CA394218157 rs1305696835	667	E>G		No	ClinGen gnomAD
CA7812422 rs563411668	667	E>K		No	ClinGen 1000Genomes ExAC gnomAD
CA394218161 rs143422330	668	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs143422330 CA7812423	668	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1282835593 CA394218165	669	I>V		No	ClinGen gnomAD
CA394218223 rs1209676834	674	Q>*		No	ClinGen TOPMed gnomAD
VAR_038754 rs2248128 CA7812426	674	Q>R		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs386787714 CA276662254	674	Q>RW		No	ClinGen Ensembl
rs773299040 CA7812428	675	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs74002291 CA7812427 RCV000972316	675	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs760719554 CA7812429	676	L>F		No	ClinGen ExAC TOPMed gnomAD
rs771179114 CA7812430	677	S>P		No	ClinGen ExAC gnomAD
rs759623033 CA7812433	678	K>N		No	ClinGen ExAC gnomAD
rs200954805 CA7812431	678	K>R		No	ClinGen ExAC TOPMed gnomAD
rs777608974 CA276662800	679	G>C		No	ClinGen Ensembl
CA394218358 rs1437168297	680	G>S		No	ClinGen gnomAD
CA7812462 rs758752952	681	P>L		No	ClinGen ExAC TOPMed gnomAD
rs758752952 CA7812463	681	P>Q		No	ClinGen ExAC TOPMed gnomAD
rs1335246840 CA394218419	683	Q>E		No	ClinGen gnomAD
rs912975738 CA276662812	684	G>S		No	ClinGen Ensembl
CA7812465 rs757668981	685	P>L		No	ClinGen ExAC TOPMed gnomAD
CA394218490 rs1342454533	686	A>V		No	ClinGen gnomAD
CA394218508 rs1383139767	688	S>G		No	ClinGen TOPMed
rs905811259 CA276662828	689	P>R		No	ClinGen TOPMed
rs142181380 CA7812467	690	S>N		No	ClinGen ESP ExAC
rs1232845208 CA394218562	691	R>K		No	ClinGen gnomAD
rs534292799 CA7812469	692	F>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs202195643 CA7812470	693	N>H		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	694	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7812471 rs768586404	694	S>T		No	ClinGen ExAC gnomAD
CA7812472 rs774221468	694	S>Y		No	ClinGen ExAC gnomAD
rs760070405 CA7812476	695	V>A		No	ClinGen ExAC gnomAD
CA7812475 rs772827036	695	V>M		No	ClinGen ExAC TOPMed gnomAD
rs145891685 CA394218706	697	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs145891685 CA7812478	697	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs1259277848 CA394218753	699	F>Y		No	ClinGen TOPMed
rs751876802 CA7812482	701	F>S		No	ClinGen ExAC gnomAD
CA394218822 rs781523413	703	L>F		No	ClinGen ExAC gnomAD
rs781523413 CA7812484	703	L>I		No	ClinGen ExAC gnomAD
CA7812485 rs746027415	704	L>F		No	ClinGen ExAC TOPMed gnomAD
rs756134876 CA7812486 COSM3672166	705	Q>*	Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs780227352 CA7812487	706	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749527552 CA7812488	706	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs749527552 CA394218886	706	R>L		No	ClinGen ExAC TOPMed gnomAD
CA394218914 rs1260134065	708	D>H		No	ClinGen TOPMed gnomAD
CA7812490 rs774307726	709	R>K		No	ClinGen ExAC TOPMed gnomAD
rs768958396 CA7812489	709	R>W		No	ClinGen ExAC gnomAD
rs771746106 CA7812511	710	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1297083323 CA394219087	712	V>L		No	ClinGen gnomAD
rs1297083323 CA394219084	712	V>M		No	ClinGen gnomAD
CA7812512 rs777563338	713	T>I		No	ClinGen ExAC TOPMed gnomAD
CA394219123 COSM3420779 rs1288974640	715	D>N	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA394219122 rs1288974640	715	D>Y		No	ClinGen gnomAD
CA7812514 rs535334084	716	L>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs759020362 CA7812516	717	L>F		No	ClinGen ExAC gnomAD
CA7812517 rs769506696	719	E>K		No	ClinGen ExAC TOPMed gnomAD
rs767780001 CA394219220	723	V>A		No	ClinGen ExAC TOPMed gnomAD
CA7812520 rs767780001	723	V>G		No	ClinGen ExAC TOPMed gnomAD
CA394219213 rs1207905439	723	V>I		No	ClinGen gnomAD
CA7812523 rs761106615	725	G>*		No	ClinGen ExAC TOPMed gnomAD
CA7812522 CA394219236 rs761106615	725	G>R		No	ClinGen ExAC TOPMed gnomAD
CA7812524 rs754011580	726	R>K		No	ClinGen ExAC gnomAD
rs1009833204 CA276663601	728	A>V		No	ClinGen gnomAD
rs779332647 CA7812526	729	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA7812527 rs143062333	731	L>V		No	ClinGen ESP ExAC gnomAD
CA7812528 rs758576103	732	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7812529 rs777454446	733	A>S		No	ClinGen ExAC gnomAD
CA394219323 rs777454446	733	A>T		No	ClinGen ExAC gnomAD
CA394219337 rs1379675691	734	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs781106604 CA7812532	735	M>I		No	ClinGen ExAC gnomAD
CA7812531 rs770899332	735	M>T		No	ClinGen ExAC gnomAD
rs1596270908 CA394219369	736	C>G		No	ClinGen Ensembl
CA7812533 rs745440897	736	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA276663648 rs939292468	737	L>V		No	ClinGen TOPMed gnomAD
rs774999658 CA7812535	739	V>A		No	ClinGen ExAC TOPMed gnomAD
rs1209407066 CA394219419	739	V>I		No	ClinGen gnomAD
CA7812536 rs762545502	740	N>T		No	ClinGen ExAC gnomAD
rs1259143914 CA394219449	741	T>A		No	ClinGen gnomAD
rs1005887230	742	T>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs958713425 CA276663699	742	T>M		No	ClinGen TOPMed gnomAD
CA7812568 rs756091223	744	A>T		No	ClinGen ExAC gnomAD
CA7812570 rs748816658	745	V>M		No	ClinGen ExAC gnomAD
rs144206818 CA7812573	747	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs778224175 CA7812572	747	M>V		No	ClinGen ExAC gnomAD
CA7812574 rs372106050	748	G>D		No	ClinGen ESP ExAC gnomAD
rs1442117934 CA394219698	749	K>*		No	ClinGen gnomAD
CA7812576 rs746207169	750	A>P		No	ClinGen ExAC gnomAD
CA7812577 rs770274159	750	A>V		No	ClinGen ExAC gnomAD
CA276664061 rs534990294	754	F>I		No	ClinGen Ensembl
rs369510162 CA7812579	755	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs369510162 CA7812580	755	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA394219825 rs1596271429	756	W>L		No	ClinGen Ensembl
CA7812581 rs774375909	758	L>F		No	ClinGen ExAC gnomAD
CA7812582 rs148721289	759	R>C		No	ClinGen ESP ExAC gnomAD
rs767706839 CA7812583	759	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1186894760 CA394219904	762	I>M		No	ClinGen TOPMed gnomAD
rs1483357369 CA394219902	762	I>S		No	ClinGen gnomAD
CA7812585 rs116500468 RCV000973052	763	D>N		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs373396722 CA7812586	764	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA394219917 rs1165291044	764	A>T		No	ClinGen gnomAD
CA7812587 rs373396722	764	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA7812620 rs748283125	767	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs772152176 CA7812621	767	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1278706566 CA394220496	768	Q>*		No	ClinGen gnomAD
rs924050122 CA276665074	768	Q>H		No	ClinGen TOPMed gnomAD
CA394220498 rs1326895083	768	Q>R		No	ClinGen gnomAD
CA394220507 rs1197870039	769	G>W		No	ClinGen TOPMed
CA394220529 rs1209264238	771	L>F		No	ClinGen gnomAD
rs201230315 CA7812623	771	L>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs771006115 CA7812624 COSM3690764	772	S>L	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA394220537 rs771006115	772	S>W		No	ClinGen ExAC TOPMed gnomAD
CA7812627 rs765327109	774	V>I		No	ClinGen ExAC TOPMed gnomAD
CA276665083 rs930999564	775	S>F		No	ClinGen TOPMed gnomAD
rs762921827 CA7812629	776	S>C		No	ClinGen ExAC TOPMed gnomAD
rs199878818 CA7812631	777	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394220592 rs767048278	780	S>N		No	ClinGen ExAC gnomAD
CA7812633 rs767048278	780	S>T		No	ClinGen ExAC gnomAD
CA394220616 rs1161078785	782	P>L		No	ClinGen gnomAD
CA7812634 rs754294567	783	A>T		No	ClinGen ExAC gnomAD
CA7812635 rs755320103	784	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7812636 rs201846953	785	R>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7812637 rs748658830	785	R>H		No	ClinGen ExAC TOPMed gnomAD
rs1482380891 CA394220680	788	E>A		No	ClinGen gnomAD
rs1482380891 CA394220681	788	E>G		No	ClinGen gnomAD
CA7812638 COSM140077 rs562665072	788	E>K	skin [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
rs531584946 CA276665109 CA7812639	789	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1596272091 CA394220695	789	D>N		No	ClinGen Ensembl
CA394220773 rs1457907580	791	M>I		No	ClinGen gnomAD
rs771221412 CA7812641	791	M>T		No	ClinGen ExAC gnomAD
CA7812642 rs199920769	792	D>H		No	ClinGen ExAC TOPMed gnomAD
CA394220788 rs1368576164	792	D>V		No	ClinGen TOPMed gnomAD
CA394220778 rs199920769	792	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs769720218 CA7812644	793	E>K		No	ClinGen ExAC TOPMed gnomAD
CA394220798 rs769720218	793	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs1448217258 CA394220821	794	L>P		No	ClinGen gnomAD
rs140286302 CA7812648	798	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394220865 rs767256385	798	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7812650 rs767256385	798	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs140286302 CA7812649	798	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs755695672 CA394220888	799	S>F		No	ClinGen ExAC TOPMed gnomAD
CA7812652 rs755695672	799	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1207971965 CA394220915	800	W>*		No	ClinGen gnomAD
TCGA novel	800	W>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs753007469	802	A>=	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
CA7812653 rs765620817	802	A>V		No	ClinGen ExAC TOPMed gnomAD
rs749155728 CA7812691	803	D>G		No	ClinGen ExAC gnomAD
rs534162177 CA7812655	803	D>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA7812693 rs778700436	804	V>M		No	ClinGen ExAC gnomAD
CA7812695 rs771992003	806	E>D		No	ClinGen ExAC TOPMed gnomAD
CA394221829 rs1156692908	807	K>N		No	ClinGen gnomAD
CA7812696 rs543509748	809	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7812697 rs371454399	810	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1332448025 CA394221860	810	D>H		No	ClinGen gnomAD
CA276667360 rs376490752	811	E>*		No	ClinGen ESP ExAC TOPMed gnomAD
CA7812699 rs376490752	811	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs759124570 CA7812701	814	R>K		No	ClinGen ExAC gnomAD
CA394221923 rs1286874151	814	R>S		No	ClinGen gnomAD
rs764398467 CA7812702	815	T>M		No	ClinGen ExAC gnomAD
rs764398467 CA7812703	815	T>R		No	ClinGen ExAC gnomAD
rs1445130570 CA394221958	818	L>V		No	ClinGen gnomAD
CA276667382 rs767497853	820	A>D		No	ClinGen gnomAD
CA394221989 rs1269431402	820	A>T		No	ClinGen gnomAD
rs767497853 CA394221995	820	A>V		No	ClinGen gnomAD
rs1567310225 CA394222029	824	L>V		No	ClinGen Ensembl
CA7812709 rs1555473430	825	Q>*		No	ClinGen Ensembl
rs1445843004 CA394222058	826	R>*		No	ClinGen TOPMed
CA7812712 rs780223337	828	K>*		No	ClinGen ExAC TOPMed gnomAD
rs754114044 CA7812713	829	N>D		No	ClinGen ExAC gnomAD
rs368930181 CA276667393	830	R>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA7812716 rs747953233	831	L>F		No	ClinGen ExAC gnomAD
CA394222119 rs1596278276	831	L>P		No	ClinGen Ensembl
rs777682589 CA7812718	832	L>F		No	ClinGen ExAC gnomAD
CA394222138 rs1283183918	833	P>S		No	ClinGen TOPMed gnomAD
CA7812720 rs370979904	834	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs746578203 CA7812719	834	P>S		No	ClinGen ExAC gnomAD
rs375348828 CA7812723	835	A>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs745530587 CA7812722	835	A>T		No	ClinGen ExAC TOPMed gnomAD
CA7812724 rs375348828	835	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7812726 rs767970522	836	S>F		No	ClinGen ExAC gnomAD

1 associated diseases with Q9Y4R8

[MIM: 616954]: You-Hoover-Fong syndrome (YHFS)

A syndrome characterized by severe global developmental delay, intellectual disability, dysmorphic facial features, microcephaly, abnormal movements, congenital heart disease comprising developmental abnormalities of the great vessels, and abnormal auditory and visual function. The transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:27132593}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A syndrome characterized by severe global developmental delay, intellectual disability, dysmorphic facial features, microcephaly, abnormal movements, congenital heart disease comprising developmental abnormalities of the great vessels, and abnormal auditory and visual function. The transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269|PubMed:27132593}. Note=The disease is caused by variants affecting the gene represented in this entry.

1 regional properties for Q9Y4R8

Type	Name	Position	InterPro Accession
domain	Telomere length regulation protein, conserved domain	512 - 620	IPR019337

Functions

		Description
EC Number
Subcellular Localization	Cytoplasm Membrane Nucleus Chromosome, telomere
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

11 GO annotations of cellular component

Name	Definition
ASTRA complex	A protein complex that is part of the chromatin remodeling machinery; the acronym stands for ASsembly of Tel, Rvb and Atm-like kinase. In Saccharomyces cerevisiae this complex includes Rvb1p, Rvb2p, Tra1p, Tel2p, Asa1p, Ttilp and Tti2p.
chromosome, telomeric region	The end of a linear chromosome, required for the integrity and maintenance of the end. A chromosome telomere usually includes a region of telomerase-encoded repeats the length of which rarely exceeds 20 bp each and that permits the formation of a telomeric loop (T-loop). The telomeric repeat region is usually preceded by a sub-telomeric region that is gene-poor but rich in repetitive elements. Some telomeres only consist of the latter part (for eg. D. melanogaster telomeres).
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.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
nuclear body	Extra-nucleolar nuclear domains usually visualized by confocal microscopy and fluorescent antibodies to specific proteins.
nuclear periphery	The portion of the nuclear lumen proximal to the inner nuclear membrane.
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.
TORC1 complex	A protein complex that contains at least TOR (target of rapamycin) and Raptor (regulatory-associated protein of TOR), or orthologs of, in complex with other signaling components. Mediates the phosphorylation and activation of S6K. In Saccharomyces, the complex contains Kog1p, Lst8p, Tco89p, and either Tor1p or Tor2p.
TORC2 complex	A protein complex that contains at least TOR (target of rapamycin) and Rictor (rapamycin-insensitive companion of TOR), or orthologs of, in complex with other signaling components. Mediates the phosphorylation and activation of PKB (also called AKT). In Saccharomyces, the complex contains Avo1p, Avo2p, Tsc11p, Lst8p, Bit61p, Slm1p, Slm2p, and Tor2p.
TTT complex	A protein complex responsible for the stabilisation of protein levels of the phosphatidylinositol 3-kinase-related protein kinase (PIKK) family proteins. The TTT complex can also be found as part of the ASTRA complex (GO:0070209).

5 GO annotations of molecular function

Name	Definition
Hsp90 protein binding	Binding to Hsp90 proteins, any of a group of heat shock proteins around 90kDa in size.
molecular adaptor activity	The binding activity of a molecule that brings together two or more molecules through a selective, non-covalent, often stoichiometric interaction, permitting those molecules to function in a coordinated way.
protein kinase binding	Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate.
protein-containing complex binding	Binding to a macromolecular complex.
telomeric DNA binding	Binding to a telomere, a specific structure at the end of a linear chromosome required for the integrity and maintenance of the end.

7 GO annotations of biological process

Name	Definition
positive regulation of DNA damage checkpoint	Any process that activates or increases the frequency, rate or extent of a DNA damage checkpoint.
positive regulation of protein serine/threonine kinase activity	Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity.
positive regulation of TORC1 signaling	Any process that activates or increases the frequency, rate or extent of TORC1 signaling.
positive regulation of TORC2 signaling	Any process that activates or increases the frequency, rate or extent of TORC2 signaling.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
regulation of TOR signaling	Any process that modulates the frequency, rate or extent of TOR signaling.
telomere maintenance via telomerase	The maintenance of proper telomeric length by the addition of telomeric repeats by telomerase.

2 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P53038	TEL2	Telomere length regulation protein TEL2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9DC40	Telo2	Telomere length regulation protein TEL2 homolog	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MEPAPSEVRL	AVREAIHALS	SSEDGGHIFC	TLESLKRYLG	EMEPPALPRE	KEEFASAHFS
70	80	90	100	110	120
PVLRCLASRL	SPAWLELLPH	GRLEELWASF	FLEGPADQAF	LVLMETIEGA	AGPSFRLMKM
130	140	150	160	170	180
ARLLARFLRE	GRLAVLMEAQ	CRQQTQPGFI	LLRETLLGKV	VALPDHLGNR	LQQENLAEFF
190	200	210	220	230	240
PQNYFRLLGE	EVVRVLQAVV	DSLQGGLDSS	VSFVSQVLGK	ACVHGRQQEI	LGVLVPRLAA
250	260	270	280	290	300
LTQGSYLHQR	VCWRLVEQVP	DRAMEAVLTG	LVEAALGPEV	LSRLLGNLVV	KNKKAQFVMT
310	320	330	340	350	360
QKLLFLQSRL	TTPMLQSLLG	HLAMDSQRRP	LLLQVLKELL	ETWGSSSAIR	HTPLPQQRHV
370	380	390	400	410	420
SKAVLICLAQ	LGEPELRDSR	DELLASMMAG	VKCRLDSSLP	PVRRLGMIVA	EVVSARIHPE
430	440	450	460	470	480
GPPLKFQYEE	DELSLELLAL	ASPQPAGDGA	SEAGTSLVPA	TAEPPAETPA	EIVDGGVPQA
490	500	510	520	530	540
QLAGSDSDLD	SDDEFVPYDM	SGDRELKSSK	APAYVRDCVE	ALTTSEDIER	WEAALRALEG
550	560	570	580	590	600
LVYRSPTATR	EVSVELAKVL	LHLEEKTCVV	GFAGLRQRAL	VAVTVTDPAP	VADYLTSQFY
610	620	630	640	650	660
ALNYSLRQRM	DILDVLTLAA	QELSRPGCLG	RTPQPGSPSP	NTPCLPEAAV	SQPGSAVASD
670	680	690	700	710	720
WRVVVEERIR	SKTQRLSKGG	PRQGPAGSPS	RFNSVAGHFF	FPLLQRFDRP	LVTFDLLGED
730	740	750	760	770	780
QLVLGRLAHT	LGALMCLAVN	TTVAVAMGKA	LLEFVWALRF	HIDAYVRQGL	LSAVSSVLLS
790	800	810	820	830
LPAARLLEDL	MDELLEARSW	LADVAEKDPD	EDCRTLALRA	LLLLQRLKNR	LLPPASP