AiPD: Autoinhibited Protein Database

Q99707

Gene name	MTR
Protein name	Methionine synthase
Names	CD158 antigen-like family member D, G9P, Killer cell inhibitory receptor 103AS, KIR-103AS, MHC class I NK cell receptor KIR103AS, MS, 5-methyltetrahydrofolate--homocysteine methyltransferase, Cobalamin-dependent methionine synthase, Vitamin-B12 dependent methionine synthase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4548
EC number	2.1.1.13: Methyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

879-957 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

879-957 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

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

Autoinhibited structure

Activated structure

3 structures for Q99707

Entry ID	Method	Resolution	Chain	Position	Source
2O2K	X-ray	160 A	A/B	925-1265	PDB
4CCZ	X-ray	270 A	A	16-657	PDB
AF-Q99707-F1	Predicted				AlphaFoldDB

903 variants for Q99707

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA1473629 rs760845484 RCV001299106	23	N>S	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs143088011 CA1473634 RCV001318367	43	R>Q	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs757720946 CA1473632 RCV001221293	43	R>W	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001706693 VAR_050033 RCV000986574 RCV001099441 CA1473643 rs12749581	52	R>Q	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001061955 CA1473714 rs143180799	117	M>L	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA345382459 rs1190777785 RCV001003946	129	A>P	Homocystinuria [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001101432 CA1473742 rs757429726 RCV002252317	148	P>L	Disorders of Intracellular Cobalamin Metabolism Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV001070551 CA1473776 rs776426879	196	I>V	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000404047 RCV001850549 rs780526997 CA1473814	220	R>Q	Disorders of Intracellular Cobalamin Metabolism Variant assessed as Somatic; 0.0 impact. Methylcobalamin deficiency type cblG [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1661600753 RCV001252325	247	S>G	Intellectual disability [ClinVar]	Yes	ClinVar dbSNP
CA1473847 rs142648132 RCV000297160 RCV000892103	248	V>M	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1473850 RCV001306060 rs758776466	252	E>G	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs201871910 RCV000693672 RCV003163171 CA1473921	300	T>M	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs766371534 RCV001858021 CA1473922 RCV000523352	301	P>A	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000431890 VAR_061338 RCV000357779 RCV001519556 rs2229274 RCV001812782 CA1473936	314	D>N	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1322031909 RCV001327671 CA345391465	340	N>K	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000642169 RCV000265427 rs145006491 RCV001718597 CA1473969 RCV000433914	345	V>I	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs140956566 RCV001245582 CA1473974 RCV002568626	347	P>S	Methylcobalamin deficiency type cblG Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1286773616 CA345391867 RCV000642168	356	L>S	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1473998 rs145217819 RCV001095975	363	F>L	Disorders of Intracellular Cobalamin Metabolism [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA1474007 rs138876566 RCV001038600	377	R>C	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001071198 rs1662641467	379	N>D	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
RCV001463144 RCV000426813 RCV000326202 CA1474008 rs144777709	381	A>T	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000015358 rs121913582 CA257202	410	A>P	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA10609646 RCV000388611 rs886046219	411	Q>P	Disorders of Intracellular Cobalamin Metabolism [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA1474045 RCV001753754 rs368619885 RCV001850550 RCV000277903	437	S>Y	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001097761 rs2229275 CA1474090 RCV000960635	495	M>I	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA345373795 RCV000800935 rs1572261571	508	E>Q	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002505621 CA1474117 RCV001058876 rs200479834	514	R>S	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1663828645 RCV001225223	515	V>G	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
rs1242741686 CA345373871 RCV000986575	520	Y>C	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA1474126 rs199700767 RCV000642166	525	K>N	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA257198 rs121913580 RCV000015356	585	R>*	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000702716 RCV002534405 RCV001547886 RCV000765084 rs61736440 RCV001097763 CA1474199	621	D>G	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000281450 rs886046220 CA10609461	648	R>C	Disorders of Intracellular Cobalamin Metabolism [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1664416870 RCV001303258	657	G>R	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
RCV000803188 rs1572278166	665	E>missing	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
RCV000497911 RCV001099555 RCV001060907 CA1474243 rs142774813	672	E>K	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs797044444 RCV000015352	705	L>missing	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
rs1553321807 CA345377048 RCV000642165	722	L>P	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA1474326 RCV001252326 RCV001850551 RCV000756361 rs142250261 RCV000372535	749	P>S	Disorders of Intracellular Cobalamin Metabolism Intellectual disability Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1664590593 RCV001242321	761	L>H	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
RCV001210545 rs968363996	770	P>A	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
RCV001352530 CA1474354 RCV001762610 rs750824195	772	Q>R	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs542575330 RCV001347387 CA39753660	776	V>M	Variant assessed as Somatic; impact. Methylcobalamin deficiency type cblG [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes NCI-TCGA TOPMed dbSNP gnomAD
RCV001236854 rs147387989 CA1474381	804	I>T	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000805410 rs1572309822	825	D>*	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
CA345381590 RCV000986576 rs1413989228	828	G>S	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001099557 rs1665342241	865	K>E	Disorders of Intracellular Cobalamin Metabolism [ClinVar]	Yes	ClinVar dbSNP
CA345383078 RCV001101531 rs1354755505	880	V>I	Disorders of Intracellular Cobalamin Metabolism [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002482871 RCV000015349 rs797044443	881	I>missing	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
VAR_004328	881	I>del	HMAG [UniProt]	Yes	UniProt
RCV000817918 rs146569329 CA39764321	895	Q>P	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs1805087 RCV001812069 RCV000126868 RCV000398009 CA170993 RCV001519615 RCV000144923 RCV000015355 VAR_004329	919	D>G	Disorders of Intracellular Cobalamin Metabolism Gastrointestinal stromal tumor (gist) Methylcobalamin deficiency type cblG Neural tube defects, folate-sensitive, susceptibility to Gastrointestinal stromal tumor [ClinVar, Ensembl]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs121913579 VAR_004330 RCV000015350 CA257195	920	H>D	Methylcobalamin deficiency type cblG HMAG [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
RCV001353055 rs1666006480	930	L>missing	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
CA1474520 RCV001232385 rs774910076	938	S>I	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000310738 RCV001086144 RCV001711775 CA1474521 rs113042166	939	G>R	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001096088 rs146931200 CA1474550 RCV002554891	954	T>M	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA345385931 RCV001220731 rs1416094227	964	Y>C	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV003120532 RCV001813071 rs773190246 CA1474561	972	Y>C	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001326304 rs201015844 CA1474564	985	R>W	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA345386300 RCV001345942 rs772400119	989	P>L	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1474569 rs536238004 RCV000778973	991	R>*	Disorders of Intracellular Cobalamin Metabolism [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001348963 rs1666296405	1011	D>G	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
rs753262198 CA1474599 RCV001252323	1011	D>N	Intellectual disability Variant assessed as Somatic; 0.0 impact. [ClinVar, NCI-TCGA]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA1474600 RCV000398006 rs201901663 RCV001306141 RCV002252091	1012	D>V	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001080972 RCV000766292 RCV000314594 CA312749 rs116836001	1027	R>W	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA345387237 rs1572341910 RCV000804688	1047	Y>F	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs780045701 RCV001318668 CA1474619	1058	P>S	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1666305319 TCGA novel RCV001097848	1059	I>V	Disorders of Intracellular Cobalamin Metabolism Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA]	Yes	ClinVar NCI-TCGA dbSNP
rs769801712 CA1474624 RCV001062185	1063	Y>C	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001575637 RCV001097849 rs144991102 CA1474650 RCV000822394	1076	T>M	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1474658 COSM906107 rs764803333 RCV001059405	1094	R>H	Variant assessed as Somatic; 0.0 impact. endometrium Methylcobalamin deficiency type cblG [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000274727 RCV000880577 rs146071220 CA1474667	1113	A>T	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs797044445 RCV000015354	1128	A>missing	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinVar dbSNP
RCV000805089 CA1474706 rs201718371	1147	R>*	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA1474713 rs761657622 RCV000800792	1164	R>C	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1474714 RCV000438222 rs61736326 RCV000967790 RCV000259444	1164	R>H	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA1474719 RCV001850552 rs556429682 RCV000286629 RCV001753755	1167	R>Q	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA1474721 rs756440911 RCV000808000	1172	R>C	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA249972 VAR_004331 RCV000162189 rs121913578 RCV000015348 RCV000778974 RCV000414734 RCV001003947 RCV000210576	1173	P>L	Homocystinuria Disorders of Intracellular Cobalamin Metabolism Epilepsy Methylcobalamin deficiency type cblG Variant assessed as Somatic; 5.303e-05 impact. Inborn genetic diseases HMAG [ClinVar, NCI-TCGA, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs149476106 RCV000377510 CA1474734 RCV002059469 RCV000606296	1195	I>V	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000015357 rs121913581 CA257200	1205	E>*	Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001597039 CA1474763 RCV000405364 rs61739582 RCV000642170	1222	N>S	Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001760074 rs374409316 RCV001101638 CA1474790 COSM384202 RCV002558020 RCV001233199	1257	G>V	lung Disorders of Intracellular Cobalamin Metabolism Methylcobalamin deficiency type cblG Inborn genetic diseases [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1367402633 RCV000518922	1	M>missing		No	ClinVar dbSNP
CA345376104 rs1558264971	3	P>L		No	ClinGen Ensembl
rs1471694660 CA345376099	3	P>S		No	ClinGen gnomAD
COSM425678 rs1418638914 CA345376107	4	A>T	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA1473594 rs139083778	5	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA345376178 rs1157538901	7	D>E		No	ClinGen TOPMed
TCGA novel	7	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376654651 CA1473596	8	L>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA1473598 rs201533281	9	S>L		No	ClinGen 1000Genomes ExAC gnomAD
rs1358937870 CA345376202	9	S>P		No	ClinGen TOPMed gnomAD
CA345376275 rs1182148079	11	P>H		No	ClinGen TOPMed
rs890801915 CA39730720	12	E>G		No	ClinGen TOPMed
rs376681897 CA1473626	19	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA1473627 rs767724201	19	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1473625 rs376681897	19	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA345379403 rs1415816351	20	D>E		No	ClinGen gnomAD
CA345379405 rs1331695580	21	E>K		No	ClinGen gnomAD
CA1473628 rs752855469	23	N>D		No	ClinGen ExAC gnomAD
CA345379438 rs1300477913	23	N>K		No	ClinGen gnomAD
rs764054343 CA1473630	25	I>F		No	ClinGen ExAC gnomAD
rs764054343 CA345379455	25	I>V		No	ClinGen ExAC gnomAD
rs1039659576 CA39730758	27	Q>R		No	ClinGen TOPMed
CA345379502 rs1384964032	28	K>N		No	ClinGen TOPMed
CA345379539 rs1338725410	32	V>M		No	ClinGen TOPMed
rs1228136721 CA345379566	34	D>E		No	ClinGen gnomAD
CA1473631 rs371079306	37	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA345379653 rs1198918767	41	I>L		No	ClinGen gnomAD
CA1473633 rs143088011	43	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA1473636 rs373236234	44	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs1447510980 CA345379700	44	E>Q		No	ClinGen gnomAD
CA1473637 rs747724978	45	K>N		No	ClinGen ExAC TOPMed gnomAD
CA1473640 rs769395060	48	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1473642 rs749273555	50	H>R		No	ClinGen ExAC gnomAD
CA1473641 rs777103178	50	H>Y		No	ClinGen ExAC gnomAD
CA39730833 rs767201867	52	R>*		No	ClinGen TOPMed gnomAD
rs774303595 CA1473644	53	G>V		No	ClinGen ExAC gnomAD
CA1473645 rs759468686	54	Q>H		No	ClinGen ExAC gnomAD
rs1435000607 CA345379812	57	K>Q		No	ClinGen gnomAD
rs775827591 CA1473647	60	A>G		No	ClinGen ExAC gnomAD
CA345379894 rs1333154240	60	A>S		No	ClinGen gnomAD
VAR_004326	61	R>K		No	UniProt
rs61736442 CA1473649	62	P>L		No	ClinGen ExAC gnomAD
rs760756234 CA1473648	62	P>S		No	ClinGen ExAC gnomAD
rs1463533327 CA345379983	65	G>D		No	ClinGen gnomAD
rs1208006921 CA345380004	66	N>S		No	ClinGen gnomAD
CA1473651 rs762320058	67	N>S		No	ClinGen ExAC TOPMed gnomAD
rs1558271003 CA345380109	71	S>G		No	ClinGen Ensembl
CA345380117 rs1333592892	71	S>N		No	ClinGen TOPMed gnomAD
CA1473653 rs750927351	72	I>M		No	ClinGen ExAC gnomAD
rs1376723117 CA345380126	72	I>V		No	ClinGen TOPMed gnomAD
rs758803927 CA1473654	73	T>S		No	ClinGen ExAC gnomAD
rs971357992 CA39730887	74	Q>*		No	ClinGen Ensembl
rs1409105939 CA345380169	75	P>L		No	ClinGen gnomAD
rs1457210228 CA345380175	76	D>N		No	ClinGen gnomAD
rs1296588896 CA345380315	81	I>T		No	ClinGen TOPMed
CA345380339 rs1393448524	82	H>R		No	ClinGen gnomAD
CA1473674 rs766800721	85	Y>F		No	ClinGen ExAC gnomAD
TCGA novel	85	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs763321071 CA1473673	85	Y>N		No	ClinGen ExAC gnomAD
rs1242485688 CA345381259	88	A>V		No	ClinGen gnomAD
CA39732694 rs751825341	90	A>V		No	ClinGen Ensembl
rs755806533 CA1473676	91	D>E		No	ClinGen ExAC gnomAD
CA39732695 rs956616795	91	D>H		No	ClinGen TOPMed gnomAD
rs756873897 CA1473679	93	I>T		No	ClinGen ExAC gnomAD
CA1473678 rs753506566	93	I>V		No	ClinGen ExAC gnomAD
rs1182007274 CA345381364	94	E>Q		No	ClinGen gnomAD
rs778513217 CA1473680	95	T>I		No	ClinGen ExAC gnomAD
CA345381435 rs1422635105	96	N>D		No	ClinGen gnomAD
rs745828101 CA1473681	100	S>G		No	ClinGen ExAC gnomAD
CA1473682 rs758202311	101	T>A		No	ClinGen ExAC gnomAD
rs980644569 CA345381536	101	T>I		No	ClinGen TOPMed gnomAD
rs980644569 CA39732774	101	T>S		No	ClinGen TOPMed gnomAD
CA1473683 rs367730702	103	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA345381571 rs1370258050	103	I>V		No	ClinGen gnomAD
CA345381667 rs1304708310	106	A>V		No	ClinGen gnomAD
CA1473684 rs746836137	109	G>S		No	ClinGen ExAC TOPMed gnomAD
rs1311957427 CA345381740	110	L>F		No	ClinGen gnomAD
rs768491623 CA1473685	111	E>Q		No	ClinGen ExAC gnomAD
rs1230346768 CA345381816	113	L>F		No	ClinGen gnomAD
CA1473711 rs775926869	114	A>V		No	ClinGen ExAC gnomAD
rs761569144 CA1473712	115	Y>C		No	ClinGen ExAC TOPMed gnomAD
rs1414249194 CA345382289	116	R>Q		No	ClinGen gnomAD
CA39734303 rs1034987757	116	R>W		No	ClinGen TOPMed gnomAD
rs143180799 CA1473713	117	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs151161326 CA1473716	119	M>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs538707626 CA1473715	119	M>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1014821687 CA39734316	120	C>G		No	ClinGen TOPMed gnomAD
CA345382342 rs1436938156	120	C>Y		No	ClinGen gnomAD
CA1473717 rs557603489	122	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1365119706 CA345382417	126	R>G		No	ClinGen gnomAD
CA1473718 rs754871053	126	R>K		No	ClinGen ExAC
rs755894287 CA1473721	130	E>K		No	ClinGen ExAC TOPMed gnomAD
CA345382509 rs1572189895	132	V>G		No	ClinGen Ensembl
rs969895798 CA39734349	132	V>I		No	ClinGen TOPMed gnomAD
rs1225983206 CA345382514	133	T>A		No	ClinGen gnomAD
rs777926993 CA345382521	133	T>I		No	ClinGen ExAC gnomAD
rs777926993 CA1473722	133	T>S		No	ClinGen ExAC gnomAD
rs1558275633 CA345382546	135	Q>H		No	ClinGen Ensembl
CA345382541 rs1224330699	135	Q>R		No	ClinGen gnomAD
rs986483270 CA39735535	140	R>K		No	ClinGen TOPMed
CA345382854 rs1179107463 COSM1501656	143	A>S	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
rs1411468871 CA345382872	143	A>V		No	ClinGen gnomAD
CA345382873 rs777573171	144	G>R		No	ClinGen ExAC TOPMed gnomAD
CA1473740 rs777573171	144	G>W		No	ClinGen ExAC TOPMed gnomAD
rs769240238 CA345382898	145	A>G		No	ClinGen Ensembl
rs754035798 CA1473741	145	A>T		No	ClinGen ExAC TOPMed gnomAD
CA39735541 rs769240238	145	A>V		No	ClinGen Ensembl
CA345382967 rs1239731240	150	N>S		No	ClinGen TOPMed
rs919795873 CA39735547	150	N>Y		No	ClinGen TOPMed gnomAD
rs1572193100 CA345383012	152	T>K		No	ClinGen Ensembl
rs1375053659 CA345383042	153	L>H		No	ClinGen TOPMed
CA345383065 rs1311934439	154	S>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
COSM906092 CA345383084 rs1382616664	155	V>M	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
TCGA novel	157	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1473746 rs201799064	162	P>L	Variant assessed as Somatic; 0.0009703 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	162	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs768925414 CA1473748	164	Y>C		No	ClinGen ExAC gnomAD
CA1473749 rs777016424	165	R>K		No	ClinGen ExAC
CA345383361 rs1444219431	166	N>S		No	ClinGen gnomAD
CA345383369 rs1198921722	167	I>F		No	ClinGen gnomAD
rs1204404590 CA345383956	169	F>S		No	ClinGen gnomAD
TCGA novel	170	D>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1473766 rs781425281	170	D>Y		No	ClinGen ExAC gnomAD
CA1473768 rs770051707	172	L>F		No	ClinGen ExAC
TCGA novel	173	V>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1473769 rs774036304	179	Q>E		No	ClinGen ExAC gnomAD
CA1473770 rs745501498	179	Q>H		No	ClinGen ExAC gnomAD
rs1268402814 CA345384208	180	A>S		No	ClinGen TOPMed
rs1186280800 CA345384231	181	K>R		No	ClinGen TOPMed
rs566083450 CA39737122	182	G>E		No	ClinGen 1000Genomes
rs1453654035 CA345384272	185	D>V		No	ClinGen gnomAD
rs771598275 CA1473772	186	G>D		No	ClinGen ExAC gnomAD
rs372174747 CA39737133	187	G>R		No	ClinGen ESP TOPMed gnomAD
CA345384287 rs1351279070	188	V>F		No	ClinGen gnomAD
CA345384296 rs1209937341	189	D>G		No	ClinGen TOPMed
rs1322149560 CA345384300	190	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1411748840 CA345384307	191	L>V		No	ClinGen gnomAD
rs764148198 CA1473775	193	I>M		No	ClinGen ExAC TOPMed gnomAD
CA345384409 rs1572197252	198	D>V		No	ClinGen Ensembl
CA345384437 rs1331318810	200	A>G		No	ClinGen TOPMed
CA1473777 rs761706771	201	N>K		No	ClinGen ExAC gnomAD
rs764918943 CA1473778	203	K>N		No	ClinGen ExAC gnomAD
TCGA novel	205	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773074760 CA1473798	205	A>T		No	ClinGen ExAC gnomAD
CA1473799 rs763284188	205	A>V		No	ClinGen ExAC TOPMed gnomAD
rs148101911 CA1473801	207	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1451672569 CA345385370	208	A>V		No	ClinGen gnomAD
rs767477474 CA1473804	210	Q>*		No	ClinGen ExAC gnomAD
rs1304651259 CA345385396	210	Q>P		No	ClinGen gnomAD
CA1473806 COSM1296047 rs546918671	211	N>S	Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs1365704680 CA345385446	213	F>S		No	ClinGen gnomAD
CA1473807 rs778119339	213	F>V		No	ClinGen ExAC gnomAD
rs971533453 CA39739020	214	E>G		No	ClinGen TOPMed
rs1018152954 CA39739021	216	K>*		No	ClinGen TOPMed gnomAD
rs1018152954 CA345385498	216	K>E		No	ClinGen TOPMed gnomAD
rs1306310765 CA345385509	216	K>N		No	ClinGen TOPMed
rs201075948 CA1473810	216	K>R		No	ClinGen 1000Genomes ExAC
rs1348520797 CA345385547	218	A>S		No	ClinGen gnomAD
rs746617612 CA1473812	219	P>S		No	ClinGen ExAC gnomAD
rs533191536 CA345385566	220	R>G		No	ClinGen 1000Genomes ExAC gnomAD
rs533191536 CA1473813	220	R>W		No	ClinGen 1000Genomes ExAC gnomAD
CA1473815 rs748122772	221	P>A		No	ClinGen ExAC gnomAD
CA345385591 rs1249136110	222	I>V		No	ClinGen gnomAD
rs977008218 CA39739058	223	F>L		No	ClinGen TOPMed gnomAD
rs777900847 CA1473838	224	I>F		No	ClinGen ExAC TOPMed gnomAD
rs777900847 CA1473837	224	I>V		No	ClinGen ExAC TOPMed gnomAD
rs778603574 CA39739711	227	T>M		No	ClinGen Ensembl
CA1473840 rs773980983	228	I>V		No	ClinGen ExAC gnomAD
CA1473841 rs61736441	229	V>I		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1288411041 CA345386301	231	K>R		No	ClinGen gnomAD
CA345386359 rs1572203213	234	R>W		No	ClinGen Ensembl
CA345386448 rs1558282301	238	G>E		No	ClinGen Ensembl
CA39739719 rs934470002	238	G>R		No	ClinGen TOPMed gnomAD
rs760780594 CA1473844	241	G>V		No	ClinGen ExAC gnomAD
TCGA novel	242	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs892898718 CA39739726	242	E>K		No	ClinGen TOPMed
CA39739742 rs374537482	246	I>V		No	ClinGen ESP TOPMed
rs142648132 CA1473848 CA39739756	248	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1471143847 CA345386596	250	H>Y		No	ClinGen gnomAD
rs767144332 CA1473851	253	P>L		No	ClinGen ExAC gnomAD
CA345386617 rs1558282383	253	P>S		No	ClinGen Ensembl
rs1140598 CA1473853	255	C>F		No	ClinGen ExAC gnomAD
CA345386629 VAR_004327 rs1140598	255	C>Y		No	ClinGen UniProt ExAC dbSNP gnomAD
rs1382542964 CA345388373	265	A>P		No	ClinGen TOPMed gnomAD
CA345388378 rs1382542964	265	A>T		No	ClinGen TOPMed gnomAD
rs747235861 CA1473883	269	P>A		No	ClinGen ExAC gnomAD
rs375009383 CA39745070	270	F>S		No	ClinGen ESP TOPMed
CA1473884 rs368380397	274	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA345388635 rs1197969726	275	G>E		No	ClinGen Ensembl
CA1473885 rs781379829	277	C>G		No	ClinGen ExAC gnomAD
CA1473886 rs748295087	278	T>A		No	ClinGen ExAC TOPMed gnomAD
CA1473888 rs773643586	279	T>I		No	ClinGen ExAC gnomAD
CA1473887 rs74767314	279	T>P		No	ClinGen ExAC gnomAD
CA345388798 rs1312960389	280	A>V		No	ClinGen gnomAD
rs750383628 CA1473889	281	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA345388815 rs750383628	281	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA1473890 rs771234723	282	V>D		No	ClinGen ExAC gnomAD
rs774793877 CA1473891	283	L>F		No	ClinGen ExAC gnomAD
rs763902448 CA1473892	287	N>S		No	ClinGen ExAC TOPMed gnomAD
rs761484203 CA1473918	290	L>F		No	ClinGen ExAC TOPMed gnomAD
rs764656039 CA1473919	292	N>S		No	ClinGen ExAC gnomAD
CA345389414 rs1414665609	293	T>S		No	ClinGen gnomAD
TCGA novel	295	G>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345389577 rs1331896515	301	P>H		No	ClinGen gnomAD
CA1473923 rs766371534	301	P>S		No	ClinGen ExAC TOPMed gnomAD
CA345389598 rs1204270455	303	M>L		No	ClinGen gnomAD
CA345389601 rs1204270455	303	M>V		No	ClinGen gnomAD
TCGA novel	304	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345389672 rs1572218573	304	M>T		No	ClinGen Ensembl
rs1490734103 CA345389725	306	K>N		No	ClinGen gnomAD
CA39746230 rs956819361	306	K>R		No	ClinGen TOPMed gnomAD
CA345390905 rs1315441819	313	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	317	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1473937 rs772736076	317	V>D		No	ClinGen ExAC gnomAD
CA1473938 rs762564903	318	N>S		No	ClinGen ExAC gnomAD
rs765853700 CA1473939	319	I>T		No	ClinGen ExAC gnomAD
rs1480680464 CA345390956	319	I>V		No	ClinGen gnomAD
CA345390966 rs1249121056	320	V>G		No	ClinGen gnomAD
CA1473940 rs774296250	321	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA345390988 rs1443126908	324	C>R		No	ClinGen gnomAD
rs1572220813 CA345391002	326	S>A		No	ClinGen Ensembl
rs759431422 CA1473941	330	H>R		No	ClinGen ExAC gnomAD
CA1473942 rs369312480	331	I>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs759488694 CA1473959	334	I>V		No	ClinGen ExAC gnomAD
CA1473961 rs775255641	338	V>M		No	ClinGen ExAC gnomAD
CA1473962 rs760580602	341	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs763742963 CA1473963	342	K>R		No	ClinGen ExAC
CA1473964 rs754098487	343	P>A		No	ClinGen ExAC gnomAD
rs765431215 CA1473966	344	R>G		No	ClinGen ExAC
rs750581310 CA1473967	344	R>S		No	ClinGen ExAC
rs1487029117 CA345391587	344	R>T		No	ClinGen gnomAD
rs145006491 CA1473968	345	V>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs575229292 CA1473972	346	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575229292 CA345391616	346	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs575229292 CA1473971	346	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1322419653 CA345391668	347	P>L		No	ClinGen TOPMed
CA1473975 rs778511598	350	A>V		No	ClinGen ExAC gnomAD
CA345391768 rs1281675089	352	E>K		No	ClinGen gnomAD
CA1473976 rs144839980	353	G>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs994666608 CA39749246	354	H>R		No	ClinGen Ensembl
rs1345088979 CA345391812	354	H>Y		No	ClinGen gnomAD
rs1041544453 CA39749252	355	M>T		No	ClinGen TOPMed gnomAD
CA345392746 rs1219794087	360	L>P		No	ClinGen gnomAD
rs776680187 CA1473999	365	I>V		No	ClinGen ExAC gnomAD
rs769698965 CA1474001	366	G>R		No	ClinGen ExAC gnomAD
CA1474002 rs773581879	367	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs774244732 CA345392839	374	I>N		No	ClinGen ExAC TOPMed gnomAD
rs774244732 CA1474005	374	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	375	G>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345392858 rs1404315551	377	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs373066004 CA39751468	378	C>Y		No	ClinGen ESP
CA345392880 rs1170515929	380	V>A		No	ClinGen gnomAD
rs200473180 CA39751474	384	R>G		No	ClinGen Ensembl
rs1440609178 CA345392914	386	F>L		No	ClinGen gnomAD
rs1384018969 CA345392930	388	K>T		No	ClinGen gnomAD
CA39751489 rs867839869	389	L>H		No	ClinGen Ensembl
TCGA novel	391	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	391	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs376183112 CA1474010	394	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs560603359 CA1474012	395	Y>*		No	ClinGen 1000Genomes ExAC gnomAD
CA1474011 rs138734002	395	Y>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA345392977 rs1166320999	395	Y>H		No	ClinGen TOPMed
rs1204013940 CA345393807	403	K>E		No	ClinGen TOPMed
CA39753801 rs950521121	404	V>L		No	ClinGen gnomAD
CA345393845 rs1225305753	408	M>V		No	ClinGen gnomAD
CA345393868 rs886046219	411	Q>L		No	ClinGen TOPMed gnomAD
rs1341555423 CA345393902	415	V>I		No	ClinGen TOPMed
CA345393964 rs1227369146	416	N>K		No	ClinGen TOPMed gnomAD
rs756065494 CA1474036	416	N>S		No	ClinGen ExAC gnomAD
TCGA novel	420	G>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777829409 CA1474037	420	G>V		No	ClinGen ExAC gnomAD
CA1474039 rs139054026	423	D>H		No	ClinGen ESP ExAC TOPMed
rs139054026 CA39753855	423	D>Y		No	ClinGen ESP ExAC TOPMed
CA1474041 rs374396973	426	S>G		No	ClinGen ESP ExAC gnomAD
rs1359040450 CA345394114	426	S>I		No	ClinGen TOPMed gnomAD
rs1412197340 CA345394134	428	M>T		No	ClinGen TOPMed
CA1474042 rs772174532	431	F>V		No	ClinGen ExAC gnomAD
rs1197384348 CA345394219	433	N>S		No	ClinGen gnomAD
rs1244318988 CA345394247	435	I>V		No	ClinGen gnomAD
TCGA novel	436	A>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345394268 rs1396559785	436	A>T		No	ClinGen TOPMed
CA916434799 rs1572235982	438	E>*		No	ClinGen Ensembl
TCGA novel	438	E>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345394315 rs1419293638	439	P>S		No	ClinGen gnomAD
TCGA novel	441	I>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs770004849 CA39753889	442	A>E		No	ClinGen TOPMed gnomAD
rs765580170 CA1474048	442	A>T		No	ClinGen ExAC
rs1558297592 CA345394368	443	K>E		No	ClinGen Ensembl
TCGA novel	449	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs773576797 CA1474067	450	S>A		No	ClinGen ExAC TOPMed gnomAD
rs763385094 CA1474068	450	S>Y		No	ClinGen ExAC TOPMed gnomAD
CA39755682 rs367759411	456	I>V		No	ClinGen ESP TOPMed
CA345394959 rs1457604522	463	C>R		No	ClinGen gnomAD
CA1474072 rs763596787	465	G>R		No	ClinGen ExAC gnomAD
rs757174271 CA1474074	466	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1186986913 CA345395034	468	I>L		No	ClinGen gnomAD
rs750261993 CA1474076	472	I>V		No	ClinGen ExAC gnomAD
CA345395096 rs1203347120	473	S>G		No	ClinGen TOPMed
CA1474078 rs780315233	478	E>V		No	ClinGen ExAC gnomAD
rs1310485201 CA345395146	480	D>N		No	ClinGen TOPMed
CA345395165 rs1311505928	482	L>S		No	ClinGen gnomAD
CA1474081 rs781291450	484	K>T		No	ClinGen ExAC gnomAD
CA1474082 rs748624850	485	A>V		No	ClinGen ExAC gnomAD
rs1276939443 CA345395192	486	R>G		No	ClinGen gnomAD
CA345395241 rs1317830366	489	K>R		No	ClinGen TOPMed gnomAD
rs1482459791 CA345395272	491	Y>C		No	ClinGen gnomAD
TCGA novel	491	Y>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150652021 CA1474087	493	A>V		No	ClinGen 1000Genomes ExAC
rs760333844 CA1474089	495	M>K		No	ClinGen ExAC gnomAD
COSM325864 rs775291294 CA1474088	495	M>V	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs1368878564 CA345395346	497	V>A		No	ClinGen TOPMed
rs756215823 CA1474092	498	M>I		No	ClinGen ExAC gnomAD
CA345395385 rs1177021183	503	E>K		No	ClinGen gnomAD
CA345395398 rs1360704340	504	G>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
TCGA novel	505	Q>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs762838211 CA1474114	509	T>A		No	ClinGen ExAC gnomAD
rs1251015079 CA345373809	510	D>G		No	ClinGen gnomAD
CA345373818 rs766183529	511	T>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1474115 rs766183529	511	T>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	512	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1016047263 CA39743190	514	R>K		No	ClinGen TOPMed
rs767845497 CA1474118	516	C>Y		No	ClinGen ExAC gnomAD
rs752846930 CA345373852	517	T>A		No	ClinGen ExAC TOPMed gnomAD
rs752846930 CA1474119	517	T>P		No	ClinGen ExAC TOPMed gnomAD
rs777929463 CA1474121	518	R>Q		No	ClinGen ExAC gnomAD
CA1474120 rs756228585	518	R>W		No	ClinGen ExAC gnomAD
CA345373862 rs1308888319	519	A>S		No	ClinGen TOPMed gnomAD
CA345373860 rs1308888319	519	A>T		No	ClinGen TOPMed gnomAD
rs757891309 CA345373874	521	H>N		No	ClinGen ExAC TOPMed gnomAD
CA1474123 rs757891309	521	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA39743246 rs372363134	522	L>V		No	ClinGen ESP TOPMed
rs1418837838 CA345373887	523	L>F		No	ClinGen TOPMed
CA345373888 rs1378293350	523	L>H		No	ClinGen TOPMed
CA1474127 rs140183705	532	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA1474128 rs747690350	533	D>E		No	ClinGen ExAC TOPMed gnomAD
CA1474129 rs769378343	536	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1256175038 CA345374009	537	D>A		No	ClinGen gnomAD
rs1028473570 CA39743313	539	N>D		No	ClinGen Ensembl
rs200362373 CA1474132	543	I>T		No	ClinGen ExAC TOPMed gnomAD
rs1284394856 CA345374156	548	E>D		No	ClinGen TOPMed
CA345374174 rs1171736020	549	E>D		No	ClinGen TOPMed gnomAD
CA345374183 rs1351941930	550	H>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs151031178 CA1474133	551	N>D		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	551	N>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752966218 CA1474136	553	Y>F		No	ClinGen ExAC gnomAD
rs767156705 CA1474135	553	Y>H		No	ClinGen ExAC gnomAD
rs1407165754 CA345374245	555	I>V		No	ClinGen TOPMed gnomAD
CA1474137 rs760764612	557	F>I		No	ClinGen ExAC gnomAD
CA345374575 rs1173247715	567	T>A		No	ClinGen TOPMed gnomAD
rs905213881 CA39745031	571	A>T		No	ClinGen TOPMed gnomAD
rs776985001 CA1474157	573	I>T		No	ClinGen ExAC gnomAD
CA39745045 rs1002609998	574	S>N		No	ClinGen TOPMed
CA39745058 rs942535205	575	G>R		No	ClinGen gnomAD
rs750970961 CA1474160	581	S>F		No	ClinGen ExAC gnomAD
rs1479249107 CA345374800	584	F>L		No	ClinGen TOPMed gnomAD
CA1474162 rs766888517	584	F>S		No	ClinGen ExAC gnomAD
rs1424769753 CA345374804	585	R>Q		No	ClinGen gnomAD
TCGA novel	588	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs777459947 CA1474164	591	R>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA1474165 rs531465813	594	M>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	598	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	599	L>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA39745124 rs771585676	601	H>R		No	ClinGen TOPMed gnomAD
CA345374975 rs1438404808	604	K>E		No	ClinGen gnomAD
CA1474166 rs756760475	604	K>N		No	ClinGen ExAC gnomAD
CA1474194 rs769950851	612	V>A		No	ClinGen ExAC gnomAD
CA1474196 rs762999544	616	N>S		No	ClinGen ExAC TOPMed gnomAD
CA345375086 rs1410795354	618	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs557853306 CA345375088 CA1474197	619	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA39745566 rs756981736	620	Y>C		No	ClinGen Ensembl
rs767887287 CA1474200	624	H>P		No	ClinGen ExAC TOPMed gnomAD
CA1474201 rs767887287	624	H>R		No	ClinGen ExAC TOPMed gnomAD
rs1333077382 CA345375132	625	K>R		No	ClinGen gnomAD
TCGA novel	627	L>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs994058849 CA39745576	629	Q>*		No	ClinGen TOPMed gnomAD
CA39745580 rs996573287	629	Q>H		No	ClinGen TOPMed
CA345375154 rs994058849	629	Q>K		No	ClinGen TOPMed gnomAD
rs764859650 CA1474203	629	Q>R		No	ClinGen ExAC gnomAD
CA345375183 rs1241969409	633	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1284198075 CA345375190	634	L>F		No	ClinGen gnomAD
rs1319174926 CA345375193	634	L>P		No	ClinGen gnomAD
rs750036310 CA1474204	635	I>L		No	ClinGen ExAC gnomAD
TCGA novel	636	W>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1474205 rs757855026	636	W>R		No	ClinGen ExAC gnomAD
rs1025423877 CA39745586	637	N>K		No	ClinGen Ensembl
TCGA novel	641	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1474208 rs751565093	648	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	648	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1474230 rs562769000	653	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1029717973 CA39750618	654	G>V		No	ClinGen Ensembl
rs1340443868 CA345376188	655	T>I		No	ClinGen gnomAD
rs1303828721 CA345376217	658	K>R		No	ClinGen gnomAD
CA1474232 rs777583638	659	K>E		No	ClinGen ExAC gnomAD
rs749490579 CA1474233	659	K>R		No	ClinGen ExAC gnomAD
CA1474235 rs779073737	660	V>I		No	ClinGen ExAC gnomAD
CA345376263 rs148897041	661	I>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1474236 rs148897041	661	I>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1474237 rs141614780	662	Q>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs925987852 CA39750680	662	Q>R		No	ClinGen Ensembl
rs775984505 CA1474238	664	D>E		No	ClinGen ExAC TOPMed gnomAD
rs1485490753 CA345376324	664	D>G		No	ClinGen gnomAD
rs1558316720 CA345376329	665	E>K		No	ClinGen Ensembl
CA345376348 rs1396173660	666	W>*		No	ClinGen gnomAD
rs1431166735 COSM533495 CA345376353	666	W>C	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA345376364 rs1192633508	667	R>T		No	ClinGen gnomAD
rs1064796330 RCV000481590	668	N>missing		No	ClinVar dbSNP
rs768929086 CA1474240	670	P>L		No	ClinGen ExAC gnomAD
rs768929086 CA345376399	670	P>R		No	ClinGen ExAC gnomAD
CA345376396 rs1380513636	670	P>S		No	ClinGen gnomAD
CA1474241 rs751839046	671	V>I		No	ClinGen ExAC gnomAD
CA1474244 rs150058137	674	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA39750691 rs774231870	674	R>H		No	ClinGen TOPMed
TCGA novel	676	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs759130222 CA1474245	678	A>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1435045766 CA345376516	679	L>V		No	ClinGen TOPMed
CA345376554 rs1363185369	680	V>E		No	ClinGen TOPMed
CA345376687 rs1483332114	682	G>C		No	ClinGen gnomAD
rs113914406 CA39751923	682	G>D		No	ClinGen gnomAD
rs113914406 CA345376688	682	G>V		No	ClinGen gnomAD
rs1558318185 CA345376691	683	I>F		No	ClinGen Ensembl
CA345376699 rs1171964412	684	E>*		No	ClinGen TOPMed gnomAD
rs1171964412 CA345376697	684	E>K		No	ClinGen TOPMed gnomAD
CA39751936 rs568232175	686	H>N		No	ClinGen 1000Genomes gnomAD
rs758672967 CA1474288	686	H>R		No	ClinGen ExAC gnomAD
rs747181368 CA1474290	687	I>T		No	ClinGen ExAC gnomAD
rs780108847 CA1474289	687	I>V		No	ClinGen ExAC TOPMed gnomAD
CA345376725 rs1453079051	688	I>F		No	ClinGen TOPMed
CA345376728 rs1290386215	688	I>T		No	ClinGen TOPMed
rs1204463525 CA345376732	689	E>*		No	ClinGen TOPMed
CA345376735 rs1354842949	689	E>G		No	ClinGen gnomAD
CA345376744 rs1572281605	690	D>V		No	ClinGen Ensembl
CA345376752 rs1414123480	691	T>I		No	ClinGen gnomAD
CA345376758 rs1348533991	692	E>V		No	ClinGen TOPMed
CA1474292 rs781728060	693	E>G		No	ClinGen ExAC gnomAD
rs1212588170 CA345376786	696	L>F		No	ClinGen gnomAD
CA345376794 rs1230240879	697	N>K		No	ClinGen TOPMed
rs181920088 CA1474294	699	K>E		No	ClinGen 1000Genomes ExAC gnomAD
CA345376811 rs1306843324	700	K>Q		No	ClinGen TOPMed gnomAD
rs770312323 CA1474296	701	Y>N		No	ClinGen ExAC TOPMed gnomAD
rs1434632252 CA345376830	702	P>H		No	ClinGen TOPMed
rs1211740926 CA345376829	702	P>T		No	ClinGen gnomAD
COSM3418933 CA1474297 rs778233369	703	R>Q	Variant assessed as Somatic; 4.624e-05 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs147670189 CA1474300	706	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA39752019 rs557777496	707	I>V		No	ClinGen 1000Genomes TOPMed gnomAD
rs774998091 CA1474301	708	I>V		No	ClinGen ExAC gnomAD
CA39752024 rs964921519	713	M>I		No	ClinGen Ensembl
TCGA novel CA39752029 rs576084212	716	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes NCI-TCGA
CA1474303 rs537133947	717	K>I		No	ClinGen 1000Genomes ExAC gnomAD
rs190455607 CA39752030	721	D>H		No	ClinGen 1000Genomes
rs758285041 CA39752036	722	L>F		No	ClinGen Ensembl
CA1474306 rs144374509	724	G>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA1474305 rs761693980	724	G>R		No	ClinGen ExAC
rs1162023924 CA345377100	726	G>A		No	ClinGen TOPMed
rs1374925058 CA345377111	727	K>R		No	ClinGen gnomAD
rs759914760 CA39752046	728	M>V		No	ClinGen TOPMed
CA345377157 rs1428030950	731	P>L		No	ClinGen TOPMed
rs1286726397 CA345377820	734	I>V		No	ClinGen TOPMed
CA345377877 rs776057319	738	R>P		No	ClinGen ExAC TOPMed gnomAD
rs776057319 CA1474322	738	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1474321 rs200803446	738	R>W		No	ClinGen ExAC TOPMed gnomAD
CA345377893 rs1345387459	740	M>V		No	ClinGen TOPMed gnomAD
CA1474323 rs569803081	742	K>R		No	ClinGen 1000Genomes ExAC gnomAD
CA1474324 rs375809201	743	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA39752797 rs57752780	744	V>L		No	ClinGen Ensembl
rs60599724 CA39752818	745	G>A		No	ClinGen TOPMed gnomAD
rs60599724 CA39752816	745	G>D		No	ClinGen TOPMed gnomAD
CA1474325 rs370203138	747	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA39752838 rs1037788544	748	I>T		No	ClinGen gnomAD
rs1409075366 CA345377968	748	I>V		No	ClinGen TOPMed
CA1474327 rs766018906	749	P>L		No	ClinGen ExAC gnomAD
CA1474328 rs751836621	753	K>E		No	ClinGen ExAC gnomAD
CA1474329 rs759627208	758	T>A		No	ClinGen ExAC gnomAD
CA1474331 rs752860802	759	R>S		No	ClinGen ExAC gnomAD
CA39752886 rs537057892	759	R>T		No	ClinGen 1000Genomes
CA345378050 CA345378051 rs1406916579	760	V>L		No	ClinGen gnomAD
TCGA novel	760	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs372599491 CA39752890	761	L>F		No	ClinGen ESP TOPMed
CA345378071 rs1447100033	763	G>D		No	ClinGen gnomAD
CA345378068 rs1393393334	763	G>S		No	ClinGen TOPMed gnomAD
rs1332877404 CA345378079	764	T>K		No	ClinGen gnomAD
CA39752897 rs931972359	765	V>A		No	ClinGen gnomAD
CA39752898 rs1051979463	767	E>K		No	ClinGen gnomAD
CA345378093 rs1051979463	767	E>Q		No	ClinGen gnomAD
CA345378213 rs1304774938	769	D>H		No	ClinGen TOPMed
CA345378235 rs1201199584	770	P>L		No	ClinGen gnomAD
CA39753631 rs968363996	770	P>S		No	ClinGen Ensembl
rs1572286078 CA345378249	771	Y>S		No	ClinGen Ensembl
CA1474353 rs370740550	772	Q>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs201755946 CA39753635	774	T>I		No	ClinGen ESP TOPMed gnomAD
rs376941088 CA39753643	775	I>M		No	ClinGen ESP TOPMed gnomAD
CA39753678 rs74710714	776	V>E		No	ClinGen Ensembl
rs542575330 CA39753664	776	V>L		No	ClinGen 1000Genomes TOPMed gnomAD
CA1474356 rs780836825	777	L>P		No	ClinGen ExAC gnomAD
rs758778075 CA1474355	777	L>V		No	ClinGen ExAC gnomAD
rs747734704 CA1474357	780	V>I		No	ClinGen ExAC gnomAD
rs755650478 CA1474358	781	K>E		No	ClinGen ExAC
CA345378974 rs1376758701	783	D>N		No	ClinGen TOPMed gnomAD
CA345379009 rs940351904	784	V>L		No	ClinGen TOPMed
rs940351904 CA39753734	784	V>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA345379044 rs1228248518	786	D>G		No	ClinGen TOPMed
rs989942721 CA39753740	787	I>K		No	ClinGen TOPMed
rs1271358776 CA345379101	789	K>Q		No	ClinGen TOPMed
CA345379163 rs1339561774	791	I>T		No	ClinGen TOPMed
CA345379187 rs1402296900	792	V>A		No	ClinGen gnomAD
rs1338672336 CA345379180	792	V>I		No	ClinGen gnomAD
CA39753743 rs1035993341	793	G>R		No	ClinGen Ensembl
CA1474362 rs754779929	794	V>A		No	ClinGen ExAC gnomAD
rs771840730 CA1474365	801	F>L		No	ClinGen ExAC gnomAD
CA1474366 rs138695265	802	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs760932771 CA1474367	802	R>Q		No	ClinGen ExAC gnomAD
CA1474380 rs756777494	804	I>V		No	ClinGen ExAC gnomAD
rs1466875330 CA345380978	806	L>F		No	ClinGen gnomAD
rs745749921 CA1474382	808	V>I		No	ClinGen ExAC TOPMed gnomAD
CA345380999 rs1460525335	809	M>V		No	ClinGen TOPMed
CA1474384 rs780045682	810	T>I		No	ClinGen ExAC gnomAD
CA345381032 rs1386021215	812	C>R		No	ClinGen Ensembl
rs371648406 CA39759290	813	D>V		No	ClinGen ESP TOPMed
rs1328313900 CA345381080	816	L>P		No	ClinGen TOPMed gnomAD
rs374681119 CA1474387	819	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1440455183 CA345381115	819	A>T		No	ClinGen gnomAD
CA345381186 rs1304837503	823	K>N		No	ClinGen gnomAD
CA1474390 rs773627251	823	K>Q		No	ClinGen ExAC gnomAD
rs1375814843 CA345381180	823	K>R		No	ClinGen gnomAD
rs1316249870 COSM83974 CA345381189	824	A>T	pancreas [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1359827243 CA345381530	825	D>V		No	ClinGen TOPMed gnomAD
rs1314739737 CA345381563	826	I>R		No	ClinGen gnomAD
rs1314739737 CA345381559	826	I>T		No	ClinGen gnomAD
CA345381609 rs1270571575	829	L>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1363763408 CA345381709	835	P>A		No	ClinGen gnomAD
CA39759989 rs554037313	835	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen Ensembl NCI-TCGA
TCGA novel	835	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1474433 rs759907601	838	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	840	M>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs767855659 CA1474434	844	A>V		No	ClinGen ExAC gnomAD
rs1348066051 CA345381898	845	K>R		No	ClinGen gnomAD
CA345381966 rs1245238169	848	E>G		No	ClinGen TOPMed
CA1474435 rs753462562	852	I>V		No	ClinGen ExAC gnomAD
CA39759998 rs1042034066	854	I>V		No	ClinGen TOPMed gnomAD
TCGA novel	860	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345382170 rs1356020244	861	A>T		No	ClinGen gnomAD
CA1474439 rs750017801	863	T>A		No	ClinGen ExAC gnomAD
rs1278918361 CA345382793	866	T>N		No	ClinGen TOPMed
CA1474454 rs775964876	868	T>A		No	ClinGen ExAC gnomAD
rs1394559035 CA345382853	869	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA1474456 rs764999575	874	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA39763196 rs973413944	875	R>S		No	ClinGen TOPMed
CA345382970 rs1398789197	875	R>T		No	ClinGen TOPMed gnomAD
rs987228524 CA39763199	877	S>N		No	ClinGen Ensembl
rs762562065 CA1474458	879	P>S		No	ClinGen ExAC gnomAD
CA1474461 rs755016532	883	V>I		No	ClinGen ExAC gnomAD
rs767324169 CA1474462	884	L>P		No	ClinGen ExAC TOPMed gnomAD
CA345383138 rs1369682236	884	L>V		No	ClinGen gnomAD
TCGA novel	884	L>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1349129209 CA345383174	886	A>T		No	ClinGen gnomAD
CA345383193 rs1223665501	886	A>V		No	ClinGen gnomAD
CA1474466 rs201521817	888	K>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1474467 rs1553326540	889	S>R		No	ClinGen Ensembl
rs794727395 RCV000176521	890	V>missing		No	ClinVar dbSNP
rs1437259901 CA345384338	893	C>Y		No	ClinGen gnomAD
rs757522886 CA1474487	894	S>F		No	ClinGen ExAC gnomAD
TCGA novel	895	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345384370 rs147762307	896	L>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs758351892 CA1474490	900	N>S		No	ClinGen ExAC gnomAD
CA1474492 rs149165917	903	D>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1169220676 CA345384462	904	E>*		No	ClinGen gnomAD
rs1169220676 CA345384466	904	E>K		No	ClinGen gnomAD
CA345384521 rs1408861537	909	I>V		No	ClinGen gnomAD
CA1474495 rs748496316	910	M>V		No	ClinGen ExAC TOPMed gnomAD
CA345384538 rs1413424353	911	E>V		No	ClinGen gnomAD
TCGA novel	912	E>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345384554 RCV000514691 rs1553327531	913	Y>F		No	ClinGen ClinVar Ensembl dbSNP
CA345384562 rs1293098779	914	E>A		No	ClinGen gnomAD
CA39764332 rs977928036	915	D>V		No	ClinGen TOPMed
rs1327327915 CA345384575	916	I>V		No	ClinGen gnomAD
CA39764335 rs923734948	919	D>H		No	ClinGen TOPMed gnomAD
rs121913579 CA345384628	920	H>Y		No	ClinGen gnomAD
rs774131379 CA1474496	924	L>V		No	ClinGen ExAC gnomAD
rs1464185474 CA345384813	926	E>*		No	ClinGen TOPMed gnomAD
CA345384809 rs1464185474	926	E>K		No	ClinGen TOPMed gnomAD
CA345384831 rs1272883129	927	R>K		No	ClinGen TOPMed
CA345384877 rs1490057442	930	L>*		No	ClinGen gnomAD
CA1474517 rs745470236	931	P>S		No	ClinGen ExAC gnomAD
TCGA novel	934	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs898188536 CA39764606	934	Q>P		No	ClinGen TOPMed
CA1474518 rs771634129	936	R>K		No	ClinGen ExAC gnomAD
rs774910076 CA1474519	938	S>N		No	ClinGen ExAC gnomAD
rs113042166 CA1474522	939	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1386565264 CA345385024	941	Q>*		No	ClinGen TOPMed
CA1474523 rs761601954	941	Q>L		No	ClinGen ExAC TOPMed gnomAD
CA1474525 rs773509459	942	M>I		No	ClinGen ExAC TOPMed gnomAD
CA1474524 rs764978192	942	M>V		No	ClinGen ExAC gnomAD
rs1440254433 CA345385083	945	L>P		No	ClinGen TOPMed gnomAD
CA345385085 rs1440254433	945	L>R		No	ClinGen TOPMed gnomAD
CA345385094 rs1572333307	946	S>A		No	ClinGen Ensembl
CA345385108 rs763138510	947	E>K		No	ClinGen ExAC TOPMed gnomAD
CA1474526 rs763138510	947	E>Q		No	ClinGen ExAC TOPMed gnomAD
rs550823647 CA1474548	952	K>R		No	ClinGen 1000Genomes ExAC gnomAD
rs1012977522 CA39765248	953	P>S		No	ClinGen TOPMed
rs369001514 CA1474549	954	T>P		No	ClinGen ESP ExAC
rs764628879 CA1474552	956	I>T		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	959	Q>E	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs757585550 CA1474554	959	Q>H		No	ClinGen ExAC gnomAD
CA345385868 rs1219705047	960	V>F		No	ClinGen TOPMed
CA1474555 rs779579945	964	Y>H		No	ClinGen ExAC TOPMed gnomAD
rs780732580 CA1474558	967	Q>R		No	ClinGen ExAC gnomAD
CA345385980 rs1558342338	968	K>E		No	ClinGen Ensembl
COSM403299 CA1474559 rs747630691	968	K>N	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1369853053 CA345386013	971	D>N		No	ClinGen gnomAD
rs773190246 CA39765258	972	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs770689959 CA1474563	975	W>*		No	ClinGen ExAC gnomAD
CA345386071 rs1295830969	975	W>C		No	ClinGen gnomAD
CA345386064 rs1376609534	975	W>R		No	ClinGen gnomAD
rs1402089177 CA345386086	977	P>S		No	ClinGen TOPMed
CA345386140 rs1273222787	981	V>D		No	ClinGen gnomAD
CA345386137 rs1201786899	981	V>I		No	ClinGen gnomAD
TCGA novel	985	R>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1474565 rs372611712 COSM679980	985	R>Q	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD
rs772400119 CA1474566	989	P>R		No	ClinGen ExAC TOPMed gnomAD
CA345386318 rs1187400376	990	N>S		No	ClinGen gnomAD
rs536238004 CA345386332	991	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA1474570 rs754306872	991	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1355193173 CA345386377	994	P>L		No	ClinGen gnomAD
rs143338646 CA1474572	995	K>E		No	ClinGen ESP ExAC TOPMed gnomAD
rs1240266731 CA345386395	995	K>T		No	ClinGen TOPMed
CA39765273 rs779324527	997	F>L		No	ClinGen Ensembl
rs750765808 CA1474573	998	N>S		No	ClinGen ExAC gnomAD
CA1474575 rs780820342	999	D>H		No	ClinGen ExAC TOPMed gnomAD
CA345386465 rs780820342	999	D>N		No	ClinGen ExAC TOPMed gnomAD
rs752265784 CA1474576	1000	K>E		No	ClinGen ExAC gnomAD
rs752265784 CA345386485	1000	K>Q		No	ClinGen ExAC gnomAD
rs755595867 CA1474577	1000	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1225680823 CA345386502	1001	T>S		No	ClinGen gnomAD
CA39765705 rs1006066689	1007	R>M		No	ClinGen gnomAD
CA1474595 rs755829489	1008	K>N		No	ClinGen ExAC TOPMed gnomAD
CA1474596 rs755606958	1009	V>F		No	ClinGen ExAC TOPMed gnomAD
CA345386790 rs755606958	1009	V>I		No	ClinGen ExAC TOPMed gnomAD
CA1474598 rs753262198	1011	D>Y		No	ClinGen ExAC TOPMed gnomAD
rs1177658009 CA345386855	1012	D>E		No	ClinGen gnomAD
rs1474412109 CA345386859	1013	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs745715524 CA1474601	1015	N>S		No	ClinGen ExAC gnomAD
CA345386948 rs1158020013	1018	N>K		No	ClinGen gnomAD
TCGA novel	1021	I>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs758208273 CA1474602	1022	S>N		No	ClinGen ExAC gnomAD
TCGA novel	1023	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345387007 rs1558344195	1024	K>E		No	ClinGen Ensembl
CA345387040 rs1321050406	1026	L>F		No	ClinGen gnomAD
rs116836001 CA39765720	1027	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1027	R>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345387068 rs768739478	1029	R>L		No	ClinGen ExAC TOPMed gnomAD
CA1474604 rs768739478	1029	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA1474603 rs139771804 COSM1637710	1029	R>W	Variant assessed as Somatic; 0.0 impact. bone [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA345387077 rs1228133073	1030	G>A		No	ClinGen gnomAD
rs748175083 CA1474606	1032	V>I		No	ClinGen ExAC gnomAD
CA39765732 rs995631464	1038	Q>H		No	ClinGen TOPMed
rs773655262 CA1474609	1038	Q>R		No	ClinGen ExAC gnomAD
CA345387180 rs1205215968	1039	S>I		No	ClinGen gnomAD
CA345387176 rs1214329587	1039	S>R		No	ClinGen TOPMed
CA1474610 rs763315904	1040	I>V		No	ClinGen ExAC TOPMed gnomAD
CA345387204 rs529430607	1042	D>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA345387206 rs1227536905 COSM210473	1043	D>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA1474612 rs775141970	1045	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA1474614 rs374527196	1046	L>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs756706737 CA1474616	1048	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1064796193 CA16617097 RCV000481667	1048	A>T		No	ClinGen ClinVar Ensembl dbSNP
rs765278297 CA1474617	1048	A>V		No	ClinGen ExAC TOPMed gnomAD
CA39765746 rs948258504	1053	P>L		No	ClinGen TOPMed gnomAD
CA39765748 rs980997415	1055	A>T		No	ClinGen TOPMed
CA1474618 rs758291602	1056	A>S		No	ClinGen ExAC gnomAD
rs1242958824 CA345387295	1057	E>*		No	ClinGen gnomAD
rs755297063 CA1474621	1059	I>M		No	ClinGen ExAC gnomAD
CA1474622 COSM370994 rs781259445	1061	T>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA345387322 rs1207523265	1061	T>I		No	ClinGen gnomAD
rs748276490 CA1474623	1062	F>L		No	ClinGen ExAC gnomAD
CA345387354 rs1204348273	1066	R>K		No	ClinGen TOPMed
rs749742679 CA1474626	1068	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA39765764 rs749742679	1068	Q>E		No	ClinGen ExAC TOPMed gnomAD
CA39766526 rs1010297301	1069	A>G		No	ClinGen Ensembl
CA345388222 rs1318765706	1070	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1572347443 CA345388290	1072	D>A		No	ClinGen Ensembl
CA345388300 rs1314165351	1072	D>E		No	ClinGen TOPMed
rs111465715 CA1474647	1073	S>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	1075	S>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs776369067 CA1474649	1076	T>A		No	ClinGen ExAC gnomAD
CA1474651 rs769542845	1079	Y>S		No	ClinGen ExAC gnomAD
CA1474652 rs772925364	1082	L>F		No	ClinGen ExAC gnomAD
CA1474654 rs766355068	1085	F>L		No	ClinGen ExAC gnomAD
CA345388492 rs1464089886	1085	F>V		No	ClinGen gnomAD
CA345388513 COSM906105 rs1431954928	1087	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs368521476 CA1474655	1087	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1459148876 CA345388525	1088	P>A		No	ClinGen gnomAD
rs1459148876 CA345388522	1088	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs202230081 CA1474656	1090	H>R		No	ClinGen ExAC TOPMed gnomAD
COSM906106 rs200363767 CA1474657	1094	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1300499137 CA345388705	1101	A>S		No	ClinGen gnomAD
CA39766549 rs866855046	1101	A>V		No	ClinGen Ensembl
CA1474662 rs757267455	1102	V>I		No	ClinGen ExAC TOPMed gnomAD
rs746319355 CA1474664	1103	A>V		No	ClinGen ExAC gnomAD
rs773004758 CA39766556	1104	C>F		No	ClinGen Ensembl
CA1474665 rs772610612	1108	E>G		No	ClinGen ExAC TOPMed gnomAD
rs1014393519 CA39766560	1109	E>*		No	ClinGen Ensembl
CA39766562 rs1024398478	1109	E>V		No	ClinGen Ensembl
rs769629619 CA1474668	1114	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA345388943 rs769629619	1114	Y>S		No	ClinGen ExAC TOPMed gnomAD
rs772943921 CA1474669	1115	E>D		No	ClinGen ExAC gnomAD
rs1180496181 CA345388974	1116	D>N		No	ClinGen gnomAD
rs1558347472 CA345389012	1118	G>S		No	ClinGen Ensembl
CA345389054 rs1167108696	1120	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1459810939 CA345389091	1122	S>N		No	ClinGen TOPMed
rs1419866583 CA345389106	1123	S>I		No	ClinGen TOPMed
TCGA novel	1125	M>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1474672 rs774372450	1126	V>I		No	ClinGen ExAC gnomAD
CA1474673 rs759436870	1128	A>V		No	ClinGen ExAC TOPMed gnomAD
rs1251129790 CA345389197	1129	L>P		No	ClinGen TOPMed
rs1305962485 CA345389257	1132	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
COSM533489 rs201991154 CA1474676	1132	R>W	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1349592461 CA345389267	1133	L>P		No	ClinGen gnomAD
rs772811568 CA39766779	1136	A>G		No	ClinGen Ensembl
CA39766777 rs183827423	1136	A>P		No	ClinGen 1000Genomes gnomAD
rs767000295 CA1474701	1138	A>T		No	ClinGen ExAC gnomAD
TCGA novel	1139	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1474702 rs150123193	1140	E>K		No	ClinGen ESP ExAC gnomAD
CA1474703 rs755419209	1142	H>R		No	ClinGen ExAC gnomAD
rs1389451053 CA345389608	1142	H>Y		No	ClinGen gnomAD
CA1474704 rs781725496	1144	R>G		No	ClinGen ExAC TOPMed gnomAD
CA39766788 rs571114008	1144	R>T		No	ClinGen 1000Genomes gnomAD
rs1465246067 CA345389699	1146	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs748488313 CA1474705	1146	R>H		No	ClinGen ExAC gnomAD
rs1432236758 CA345389708	1147	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs778610968 CA1474707	1148	E>Q		No	ClinGen ExAC TOPMed gnomAD
CA345389736 rs1368957034	1148	E>V		No	ClinGen TOPMed gnomAD
CA345389821 rs1311964329	1150	W>C		No	ClinGen gnomAD
CA345389836 rs1209675301	1151	A>S		No	ClinGen gnomAD
TCGA novel	1151	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs771542050 CA1474709	1152	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA345389851 rs771542050	1152	Y>S		No	ClinGen ExAC TOPMed gnomAD
CA345389865 rs1408766569	1153	C>R		No	ClinGen TOPMed gnomAD
CA345389875 rs1463635806	1153	C>Y		No	ClinGen gnomAD
rs1188027807 CA345389896	1154	G>S		No	ClinGen gnomAD
rs369154176 CA1474710	1155	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1478316739 CA345389942	1155	S>N		No	ClinGen gnomAD
CA345390010 rs1159496738	1160	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA39766801 rs866499126	1161	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs61736326 CA345390070	1164	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs12030699 CA1474716	1166	L>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs12030699 CA345390098	1166	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA1474717 rs751671789	1167	R>W		No	ClinGen ExAC TOPMed gnomAD
CA1474720 rs753057689	1171	I>V		No	ClinGen ExAC gnomAD
CA1474722 rs778432496	1172	R>H		No	ClinGen ExAC TOPMed gnomAD
rs778432496 CA39766818	1172	R>P		No	ClinGen ExAC TOPMed gnomAD
CA345390227 rs1480041419	1174	A>T		No	ClinGen gnomAD
rs1182672054 CA345390246	1175	P>A		No	ClinGen gnomAD
rs1182672054 CA345390247	1175	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA345390276 rs1572349684	1177	Y>S		No	ClinGen Ensembl
rs779588628 CA1474724	1178	P>R		No	ClinGen ExAC
rs1467474078 CA345390285	1178	P>S		No	ClinGen TOPMed
rs1572349718 CA345390302	1179	S>G		No	ClinGen Ensembl
rs1572349718 CA345390297	1179	S>R		No	ClinGen Ensembl
rs781051354 CA1474727	1182	D>N		No	ClinGen ExAC gnomAD
TCGA novel	1183	H>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA345390411 rs1410930022	1185	E>K		No	ClinGen gnomAD
CA1474729 rs769594981	1186	K>R		No	ClinGen ExAC gnomAD
rs773331349 CA1474730	1188	T>A		No	ClinGen ExAC gnomAD
rs1284998184 CA345390470	1189	M>T		No	ClinGen gnomAD
rs763288919 CA1474731	1191	R>*		No	ClinGen ExAC TOPMed gnomAD
rs763288919 CA345390493	1191	R>G		No	ClinGen ExAC TOPMed gnomAD
CA345390507 rs1226657558 COSM1215737	1192	L>I	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
rs759671198 CA345390514	1193	A>S		No	ClinGen ExAC TOPMed gnomAD
CA1474733 rs759671198	1193	A>T		No	ClinGen ExAC TOPMed gnomAD
CA345390521 rs1205715453	1193	A>V		No	ClinGen gnomAD
rs1180692014 CA345390554	1196	E>K		No	ClinGen gnomAD
rs1473549747 CA345390578	1197	Q>*		No	ClinGen gnomAD
CA39766844 rs1049945606	1198	S>C		No	ClinGen TOPMed gnomAD
CA345391121 rs1425355700	1200	G>A		No	ClinGen TOPMed
rs1430971744 CA345390623	1200	G>S		No	ClinGen gnomAD
RCV000732987 rs1346847201	1201	I>missing		No	ClinVar dbSNP
rs957035403 CA39767186	1202	R>S		No	ClinGen TOPMed gnomAD
TCGA novel	1203	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1210078406 CA345391225	1205	E>G		No	ClinGen gnomAD
CA1474759 rs751171043	1206	S>*		No	ClinGen ExAC gnomAD
CA345391297 rs1357538863	1208	A>T		No	ClinGen gnomAD
CA1474760 rs754503015	1209	M>V		No	ClinGen ExAC TOPMed gnomAD
rs1572352463 CA345391374	1210	A>G		No	ClinGen Ensembl
rs1256302185 CA345391486	1214	A>V		No	ClinGen TOPMed
rs1176037522 CA345391573	1217	G>V		No	ClinGen gnomAD
TCGA novel	1220	F>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1558350331 CA345391636	1221	S>A		No	ClinGen Ensembl
CA39767200 rs938346817	1221	S>C		No	ClinGen TOPMed gnomAD
CA39767198 rs938346817	1221	S>F		No	ClinGen TOPMed gnomAD
rs1318631598 CA345391793	1225	S>C		No	ClinGen gnomAD
rs777562650 CA345391821	1226	K>I		No	ClinGen ExAC TOPMed gnomAD
rs777562650 CA1474764	1226	K>R		No	ClinGen ExAC TOPMed gnomAD
rs777562650 CA345391816	1226	K>T		No	ClinGen ExAC TOPMed gnomAD
CA1474765 rs749112677	1227	Y>F		No	ClinGen ExAC gnomAD
rs1332842675 CA345391864	1228	F>S		No	ClinGen TOPMed
rs138451899 CA1474766	1230	V>L		No	ClinGen ESP ExAC gnomAD
rs1572352587 CA345391918	1231	G>E		No	ClinGen Ensembl
rs1487152848 CA345391939	1232	K>N		No	ClinGen gnomAD
rs779312137 CA1474767	1235	K>R		No	ClinGen ExAC gnomAD
rs370707501 CA39767357	1238	V>I		No	ClinGen ESP TOPMed
rs1002386536 CA345392180	1239	E>K		No	ClinGen TOPMed gnomAD
rs1002386536 CA39767359	1239	E>Q		No	ClinGen TOPMed gnomAD
CA345392222 rs1380454043	1241	Y>H		No	ClinGen TOPMed
TCGA novel	1245	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA1474783 rs150280831	1246	N>S		No	ClinGen ESP ExAC TOPMed
CA1474784 rs778901727	1247	I>V		No	ClinGen ExAC TOPMed gnomAD
CA1474785 rs745627967	1248	S>P		No	ClinGen ExAC gnomAD
CA345392430 rs1180345525	1250	A>T		No	ClinGen TOPMed gnomAD
rs931812633 CA39767369	1250	A>V		No	ClinGen Ensembl
rs1387815304 CA345392465	1251	E>G		No	ClinGen gnomAD
CA39767372 rs987265649	1252	V>I		No	ClinGen Ensembl
TCGA novel	1253	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs747115857 CA1474788	1257	G>*		No	ClinGen ExAC gnomAD
CA1474789 rs747115857	1257	G>R		No	ClinGen ExAC gnomAD
rs11799647 CA345392589	1259	I>F		No	ClinGen ExAC TOPMed gnomAD
rs11799647 CA345392590	1259	I>L		No	ClinGen ExAC TOPMed gnomAD
rs11799647 CA1474793	1259	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	1262	Y>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

2 associated diseases with Q99707

[MIM: 250940]: Homocystinuria-megaloblastic anemia, cblG complementation type (HMAG)

An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. {ECO:0000269|PubMed:8968736, ECO:0000269|PubMed:8968737}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 601634]: Neural tube defects, folate-sensitive (NTDFS)

The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269|PubMed:12375236}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive inborn error of metabolism resulting from defects in the cobalamin-dependent pathway that converts homocysteine to methionine. It causes delayed psychomotor development, megaloblastic anemia, homocystinuria, and hypomethioninemia. {ECO:0000269|PubMed:8968736, ECO:0000269|PubMed:8968737}. Note=The disease is caused by variants affecting the gene represented in this entry.
The most common NTDs are open spina bifida (myelomeningocele) and anencephaly. {ECO:0000269|PubMed:12375236}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.

2 regional properties for Q99707

Type	Name	Position	InterPro Accession
domain	Bicarbonate transporter-like, transmembrane domain	441 - 956	IPR011531
domain	Band 3 cytoplasmic domain	138 - 387	IPR013769

Functions

		Description
EC Number	2.1.1.13	Methyltransferases
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

3 GO annotations of molecular function

Name	Definition
cobalamin binding	Binding to cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.
methionine synthase activity	Catalysis of the reaction: (6S)-5-methyl-5,6,7,8-tetrahydrofolate + L-homocysteine = (6S)-5,6,7,8-tetrahydrofolate + L-methionine.
zinc ion binding	Binding to a zinc ion (Zn).

8 GO annotations of biological process

Name	Definition
axon regeneration	The regrowth of axons following their loss or damage.
cellular response to nitric oxide	Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitric oxide stimulus.
cobalamin metabolic process	The chemical reactions and pathways involving cobalamin (vitamin B12), a water-soluble vitamin characterized by possession of a corrin nucleus containing a cobalt atom.
methionine biosynthetic process	The chemical reactions and pathways resulting in the formation of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins.
methylation	The process in which a methyl group is covalently attached to a molecule.
nervous system development	The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state.
pteridine-containing compound metabolic process	The chemical reactions and pathways involving any compound containing pteridine (pyrazino(2,3-dipyrimidine)), e.g. pteroic acid, xanthopterin and folic acid.
response to axon injury	Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an axon injury stimulus.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q93088	BHMT	Betaine--homocysteine S-methyltransferase 1	Homo sapiens (Human)	PR
Q09582	metr-1	Probable methionine synthase	Caenorhabditis elegans	PR
Q32LQ4	bhmt	Betaine--homocysteine S-methyltransferase 1	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MSPALQDLSQ	PEGLKKTLRD	EINAILQKRI	MVLDGGMGTM	IQREKLNEEH	FRGQEFKDHA
70	80	90	100	110	120
RPLKGNNDIL	SITQPDVIYQ	IHKEYLLAGA	DIIETNTFSS	TSIAQADYGL	EHLAYRMNMC
130	140	150	160	170	180
SAGVARKAAE	EVTLQTGIKR	FVAGALGPTN	KTLSVSPSVE	RPDYRNITFD	ELVEAYQEQA
190	200	210	220	230	240
KGLLDGGVDI	LLIETIFDTA	NAKAALFALQ	NLFEEKYAPR	PIFISGTIVD	KSGRTLSGQT
250	260	270	280	290	300
GEGFVISVSH	GEPLCIGLNC	ALGAAEMRPF	IEIIGKCTTA	YVLCYPNAGL	PNTFGDYDET
310	320	330	340	350	360
PSMMAKHLKD	FAMDGLVNIV	GGCCGSTPDH	IREIAEAVKN	CKPRVPPATA	FEGHMLLSGL
370	380	390	400	410	420
EPFRIGPYTN	FVNIGERCNV	AGSRKFAKLI	MAGNYEEALC	VAKVQVEMGA	QVLDVNMDDG
430	440	450	460	470	480
MLDGPSAMTR	FCNLIASEPD	IAKVPLCIDS	SNFAVIEAGL	KCCQGKCIVN	SISLKEGEDD
490	500	510	520	530	540
FLEKARKIKK	YGAAMVVMAF	DEEGQATETD	TKIRVCTRAY	HLLVKKLGFN	PNDIIFDPNI
550	560	570	580	590	600
LTIGTGMEEH	NLYAINFIHA	TKVIKETLPG	ARISGGLSNL	SFSFRGMEAI	REAMHGVFLY
610	620	630	640	650	660
HAIKSGMDMG	IVNAGNLPVY	DDIHKELLQL	CEDLIWNKDP	EATEKLLRYA	QTQGTGGKKV
670	680	690	700	710	720
IQTDEWRNGP	VEERLEYALV	KGIEKHIIED	TEEARLNQKK	YPRPLNIIEG	PLMNGMKIVG
730	740	750	760	770	780
DLFGAGKMFL	PQVIKSARVM	KKAVGHLIPF	MEKEREETRV	LNGTVEEEDP	YQGTIVLATV
790	800	810	820	830	840
KGDVHDIGKN	IVGVVLGCNN	FRVIDLGVMT	PCDKILKAAL	DHKADIIGLS	GLITPSLDEM
850	860	870	880	890	900
IFVAKEMERL	AIRIPLLIGG	ATTSKTHTAV	KIAPRYSAPV	IHVLDASKSV	VVCSQLLDEN
910	920	930	940	950	960
LKDEYFEEIM	EEYEDIRQDH	YESLKERRYL	PLSQARKSGF	QMDWLSEPHP	VKPTFIGTQV
970	980	990	1000	1010	1020
FEDYDLQKLV	DYIDWKPFFD	VWQLRGKYPN	RGFPKIFNDK	TVGGEARKVY	DDAHNMLNTL
1030	1040	1050	1060	1070	1080
ISQKKLRARG	VVGFWPAQSI	QDDIHLYAEA	AVPQAAEPIA	TFYGLRQQAE	KDSASTEPYY
1090	1100	1110	1120	1130	1140
CLSDFIAPLH	SGIRDYLGLF	AVACFGVEEL	SKAYEDDGDD	YSSIMVKALG	DRLAEAFAEE
1150	1160	1170	1180	1190	1200
LHERVRRELW	AYCGSEQLDV	ADLRRLRYKG	IRPAPGYPSQ	PDHTEKLTMW	RLADIEQSTG
1210	1220	1230	1240	1250	1260
IRLTESLAMA	PASAVSGLYF	SNLKSKYFAV	GKISKDQVED	YALRKNISVA	EVEKWLGPIL

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