AiPD: Autoinhibited Protein Database

Q9UKY4

Gene name	POMT2
Protein name	Protein O-mannosyl-transferase 2
Names	Dolichyl-phosphate-mannose--protein mannosyltransferase 2
Species	Homo sapiens (Human)
KEGG Pathway	hsa:29954
EC number	2.4.1.109: Hexosyltransferases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-79 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-79 (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

1 structures for Q9UKY4

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q9UKY4-F1	Predicted				AlphaFoldDB

735 variants for Q9UKY4

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
rs760413289 RCV001772105 CA7286308 RCV000813904	5	T>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001238447 rs1891858162	5	T>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
rs763325075 RCV003132307 CA7286304 RCV001228423	7	G>E	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs183558313 CA7286301 RCV000539948 RCV002508226	10	A>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001350592 rs1891855792	12	S>F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
CA7286294 RCV000593533 rs778898705 RCV000539098	16	P>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000815704 RCV000730161 CA7286293 RCV001119097 rs753326186	17	R>P	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV003133635 rs753326186 CA7286292 RCV000803369	17	R>Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA390504887 RCV001345611 rs750127630	20	R>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA7286288 RCV003132175 rs767316912 RCV001049199	21	C>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000726943 rs745417690 RCV002525207 CA7286272 RCV000550102	43	K>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001043664 rs753037500 CA7286269 RCV001819758	45	P>L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000707422 CA7286270 RCV000522834 rs753037500	45	P>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7286271 rs780976004 RCV001093130 RCV000687156	45	P>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000703683 RCV002517122 RCV000193136 rs550420394 CA206414 RCV001508366	50	R>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000531335 VAR_022083 RCV000118040 CA154760 RCV000273298 rs8177536 RCV000712833	54	A>E	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1239345534 CA390504542 RCV000693505	54	A>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1891834567 RCV001342338	70	A>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV000648181 RCV000712837 rs200992827 RCV002476283 CA7286258	77	D>N	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000712838 RCV001705757 rs151103906 RCV001084326 RCV000765180 CA223080 RCV000303743	78	E>Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000704520 rs746662519 CA7286256	81	H>R	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs563863191 RCV001215472 CA263794812	82	I>N	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD
rs775489616 RCV000712839 CA7286242 RCV002532939	92	M>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000081573 RCV000525225 rs368034790 CA223083	98	N>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002503994 RCV000694010 RCV000285296 rs199719668 CA10604988 RCV002288961 RCV001778879	99	R>C	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs1891449262 RCV001283772	104	D>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
CA223086 RCV000989247 RCV000550659 RCV001252356 rs398124264 RCV000081574	107	P>L	Intellectual disability Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1555355402 CA390502570 RCV000528931	108	P>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1891447838 RCV001220968	110	G>E	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
CA390521122 RCV000820569 rs1594800236	115	G>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA390521118 RCV000821265 rs1594800231	116	L>F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs758643051 CA7286210 RCV001308990	130	Q>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1594800188 CA390520959 RCV000802157	139	H>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs148938943 CA7286206 RCV001055804	142	M>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1891164358 RCV001210056	174	L>P	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
rs1891099770 RCV001241481	183	D>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV000723643 RCV001252357 VAR_065037 RCV001203060 CA223089 RCV000003385 rs267606971	184	T>M	Intellectual disability Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N MDDGC2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
RCV002261048 rs886050826 RCV000393476 CA10641113	185	G>R	Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA223091 rs398124265 RCV002513833 RCV000081576	187	L>F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA390520572 RCV003140118 RCV000704963 rs1200584567	196	D>N	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001294512 CA252635 VAR_065038 rs267606972 RCV000732507 RCV000003383	198	I>N	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 MDDGA2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
rs921045202 RCV000817512 CA263838756	200	M>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA10605920 rs886043765 RCV001207430 RCV000386898	205	A>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000332567 CA7286148 RCV000820051 rs551885065	207	M>I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000228691 RCV001596986 rs369654108 CA7286147 RCV002057057	210	M>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs373139592 RCV000343332 CA7286146 RCV003129831 RCV001859882	211	V>I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs376485603 RCV001171683 CA7286142 RCV000706628	214	N>H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000798874 RCV003133620 CA390520449 rs1594797659	214	N>K	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA390520436 rs147871747 RCV000648174	216	C>*	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs144748043 RCV001081512 RCV000725152 CA7286137	217	A>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000335274 RCV000553857 CA203092 rs140785104 RCV001081717 RCV000178927	218	D>N	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA390520404 rs771201662 RCV000700245	220	P>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000995222 RCV001037272 CA7286112 rs746803006	221	F>I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7286110 RCV000728831 rs771995900 RCV001363576	224	P>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000804444 rs1594796439	225	W>missing	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV002535223 rs1566656247 RCV000731600	225	W>missing	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
rs755660222 RCV000194245	226	W>missing	Muscular dystrophy [ClinVar]	Yes	ClinVar dbSNP
CA7286107 RCV000799133 rs754512099	229	L>F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7286103 rs576822260 RCV000596814 RCV001854096	234	V>I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA116102 VAR_065039 RCV000003384 rs267606966	246	G>D	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 MDDGB2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC dbSNP gnomAD
rs1337866102 RCV001246376	249	I>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
rs760828168 RCV001050791 CA263837429	253	V>G	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1048633441 CA263837420 RCV001050792	255	L>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001055546 rs1891021273	256	N>I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV000485326 rs371988132 RCV001313887 CA7286095	257	T>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1891020302 RCV001207741	264	L>missing	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
CA390520117 RCV000594113 RCV001854020 rs765276419	265	F>L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs761773211 RCV001035890 CA7286090	266	G>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs375217032 RCV000728228 RCV000518653 RCV001241622 CA7286089	269	S>N	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1890947139 RCV001201650	276	G>E	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV001213938 rs1890946815	279	L>Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV000356061 CA7286063 COSM958125 rs200204831 RCV001855154 RCV002494848	282	R>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 large_intestine endometrium skin Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Variant assessed as Somatic; 0.0004158 impact. [ClinVar, Cosmic, NCI-TCGA]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000794709 RCV000734351 CA7286062 rs756132642	282	R>H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000598003 RCV002506437 rs375363915 RCV001308329 CA7286058	286	L>F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000876435 rs764015186 CA7286057 RCV000501689	291	L>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs587780423 RCV000497603 RCV001778739 CA269781 RCV000118041	294	Y>C	Autosomal recessive limb-girdle muscular dystrophy type 2N Autosomal recessive limb-girdle muscular dystrophy [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002517758 rs794727871 RCV000179937 CA247271	295	T>I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs794727871 RCV000691859 CA390519928	295	T>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA7286055 rs762885008 RCV001229739	296	A>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000179936 RCV001852239 rs775548781 CA247268	297	T>I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs376046816 RCV001241828 CA7286038	309	G>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000845091 CA390519807 rs186690580	312	D>E	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7286031 RCV000596523 rs775932206 RCV000648179	320	Q>*	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1890917117 RCV001316761	333	I>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
rs1890916653 RCV001053394	334	P>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
rs765103940 RCV001210309	336	H>N	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV000359348 RCV001850456 rs765103940 CA7286022	336	H>Y	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000648176 CA7286011 rs771636400	338	A>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA390519600 rs1285454398 RCV000648185	344	T>P	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs779053591 RCV001371825 RCV000377655 CA7286006	345	V>L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs371158744 CA390519578 RCV001219727	347	N>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000550888 rs1158227625 CA390519573	348	L>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000358693 rs756055923 RCV001211087 CA7286003	349	R>Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs141339355 CA248160 RCV001088687 RCV000712831	349	R>W	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001570621 CA130176 RCV000003387 RCV000030875 VAR_065040 rs267606970	353	G>S	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 MDDGA2 [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD
CA390519539 RCV001219894 rs751206357	354	Y>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs771509741 RCV001215801 CA7285993	361	L>F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs139830891 RCV000695476 RCV000732550 CA263834135	365	G>D	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
RCV001856525 CA7285988 RCV001116053 rs779190087	369	R>C	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
CA223060 RCV001304016 RCV002477238 RCV000081561 rs398124260 COSM1371252	369	R>H	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 large_intestine Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000003382 VAR_065041 rs267606965 CA252633	373	V>F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 MDDGA2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001055921 rs973161535 CA263827075 RCV003132185	374	T>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs542912704 RCV000813640 RCV002265893 CA263827068	375	T>I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000321942 rs886042401 RCV001228238	376	Y>missing	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV001318242 rs1180170796 CA390518966	376	Y>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000374398 rs867000155 CA10645046	378	H>R	Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA7285958 RCV001229288 rs777172630	379	K>E	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV003132076 CA7285956 RCV000811005 rs375840897	381	Y>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000597224 RCV000648177 rs369489033 CA7285957	381	Y>H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000813923 RCV000658701 CA7285931 rs764723711 RCV000350044	396	P>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7285928 rs145933402 RCV002519325 RCV000340338	398	D>H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA390518339 RCV000814740 rs1594787166	408	H>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001312388 RCV000725733 rs886043224 CA10605262	410	D>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs190285831 RCV000003381 RCV000081563 CA223063 VAR_065042 RCV001240349	413	R>P	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 MDDGA2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV002462305 RCV001062441 rs190285831 CA390518240	413	R>Q	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1566649375 CA390518164 RCV000785939	416	H>Q	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000249376 CA7285921 RCV000524642 RCV001116051 RCV000658700 rs147268052	417	K>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000003375 rs587777815	421	R>missing	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
CA200959 RCV000534768 RCV000174368 RCV001721104 rs151078549	421	R>Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001731484 RCV000699248 rs727502855 RCV002498687 CA295434 RCV001004950 RCV000594145	421	R>W	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Autosomal recessive limb-girdle muscular dystrophy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1359158673 RCV000989246 CA390517766	424	H>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV002487846 RCV002535935 CA7285904 rs774466835 RCV000821894 RCV001116050	425	S>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1594890912 RCV000805132	428	H>missing	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV000648183 rs1555352706	432	M>missing	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
rs768256055 RCV003133569 CA7285903 RCV000706103 RCV000763951	434	R>W	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000596476 CA7285898 RCV002531109 rs199743727 RCV001042775 RCV001116049	441	G>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
VAR_065043	444	I>LLWQ	MDDGA2 [UniProt]	Yes	UniProt
rs398124261 RCV001857392 CA223065 RCV000081564	455	R>W	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1890397099 RCV001120973	456	I>T	Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinVar dbSNP
RCV000710192 RCV001084394 rs2270419 RCV000127577	461	R>=	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV001222518 CA263823611 rs1030338170	461	R>K	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs567557121 RCV000730668 RCV001247618 CA7285865	462	K>N	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000527597 CA7285861 rs138266415 RCV001697306	466	R>Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs763119319 RCV000292757 RCV000548762 CA7285862	466	R>W	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000705738 RCV000081565 CA223068 rs368817785	473	R>*	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000688313 CA263823548 rs200976246	475	R>H	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA295437 RCV002034277 rs727502856	476	F>L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001054670 VAR_068968 CA7285856 rs765346043	478	H>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 MDDGA2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA252639 RCV000003392 RCV002512703 VAR_065044 rs267606968	482	G>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 MDDGA2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt dbSNP gnomAD
rs761917543 CA263823524 RCV003136014 RCV001347695	484	V>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000538523 CA208767 rs117173425 RCV001120971 RCV001701637 RCV000194537	513	N>D	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1566647081 CA390516951 RCV000694308	514	S>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000648180 rs200762716 RCV003133443 CA7285813	518	V>M	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA390516745 rs886042386 RCV001314442	523	N>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001214592 rs1421956619 CA390516729	524	P>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA7285795 rs147882035 RCV003133537 RCV000693316	535	Q>L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA7285790 RCV001065039 RCV000658417 rs367552151	543	L>M	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000541511 rs1555352401 CA390516151	549	M>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs751153662 COSM3420054 CA7285787 RCV000592305 RCV000332782 RCV000687265	551	R>W	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 large_intestine Autosomal recessive limb-girdle muscular dystrophy type 2N [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001231794 RCV003132312 rs1006561976 CA263819549	561	N>D	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs142445941 RCV000695518 RCV000518453 CA7285758 RCV000727260	564	T>M	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000299846 RCV000692456 CA7285754 rs771812476	571	P>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs780725241 RCV002551722 RCV001009061	572	I>missing	Inborn genetic diseases [ClinVar]	Yes	ClinVar dbSNP
rs148466370 RCV000368647 COSM1371250 CA7285726 RCV000812093	578	R>C	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 large_intestine [NCI-TCGA, ClinVar, Cosmic]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA295444 rs571330846 RCV001322442	578	R>H	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000648178 rs1555351894	585	T>missing	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV001345481 CA390515011 rs1566644163	590	Y>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA390514898 RCV000703859 rs1171196217	597	V>A	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA390514887 RCV000778415 rs1566644018	598	W>*	Autosomal recessive limb-girdle muscular dystrophy type 2N [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1555351859 RCV000529200 RCV003129905 CA390514608	610	L>F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000800436 rs1594885046 CA390514537	619	M>I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002519164 rs369365744 CA7285668 RCV000692914 RCV000260226	624	R>Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV002506258 rs749335757 RCV001857921 CA7285669 RCV000733262	624	R>W	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA390514453 RCV002532476 RCV000597845 rs1262591820	626	P>L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs752214239 RCV000995220 RCV001361781 CA7285661	630	A>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000712836 CA241216 rs142299878 RCV000763950 RCV000543953 RCV000175458	635	V>I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs3209079 RCV000710193 RCV000118038 RCV001079366	637	L>=	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
RCV002496243 RCV000336243 RCV000003373 CA252628 rs119463989	638	R>*	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs779390236 RCV003132387 RCV001302675 CA7285595	638	R>Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000658347 CA263817551 RCV001855373 rs966965226	643	V>L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000003379 CA116097 rs267606963	647	W>*	Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000175459 CA241219 RCV000703953 rs794727228	653	P>L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA7285581 RCV001871825 rs770606360 RCV001331801	659	R>Q	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV003132086 RCV000815123 RCV002265894 CA7285582 rs372939905	659	R>W	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
RCV001331802 rs200690151 RCV001248506 RCV002568686 RCV003128769 CA7285579	660	V>F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000003377 RCV000193219 RCV000081569 rs200198778 RCV000003376 VAR_065045 RCV000515301 CA116093 RCV000648175	666	Y>C	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 Muscular dystrophy MDDGB2 and MDDGA2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA7285573 RCV001305805 rs200079313	671	L>F	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7285556 rs200163818 RCV001084974 RCV000324625 RCV000547725	686	R>Q	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs727502859 RCV002020701 RCV003134353 CA295447	686	R>W	Variant assessed as Somatic; 0.0 impact. Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs758678348 CA7285553 RCV001859556 RCV000283624	691	G>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000685895 CA891844485 rs1566642523 RCV003133506	695	W>CS	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000355610 CA10605576 CA7285550 RCV001871711 RCV001288360 RCV002519265 rs139308429	695	W>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA390513496 RCV000689655 rs1449000965	696	P>L	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs76700503 RCV001064516 CA7285549 RCV000304861	696	P>T	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000685710 rs746221148 RCV003133505 CA7285543	704	A>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
VAR_065046	717	F>S	MDDGB2 [UniProt]	Yes	UniProt
RCV001294705 rs1890012951	722	P>S	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinVar dbSNP
CA390512693 rs1413994990 RCV001345459	724	A>V	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
VAR_065047 CA116095 RCV000003378 rs267606969 RCV000030874	726	G>E	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 MDDGA2 and MDDGB2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA390512672 RCV000696030 rs1367401943	728	V>I	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA390512642 RCV000592554 RCV002532611 RCV001553651 rs1452558347 RCV002286415	733	Q>*	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000536754 rs767359121 CA390512576	743	R>M	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
VAR_065048 rs267606964 CA116100 RCV000003380 RCV000551490	748	W>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B2 MDDGB2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
CA252637 rs267606967 VAR_065049 RCV000003386	748	W>S	Autosomal recessive limb-girdle muscular dystrophy type 2N MDDGC2 [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
rs1423335226 CA390512522 RCV000823407	751	F>R	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA390505070 rs1252468274	2	P>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA390505072 rs1252468274	2	P>R		No	ClinGen TOPMed gnomAD
rs1057136340 CA263795076	2	P>S		No	ClinGen TOPMed gnomAD
CA390505061 rs1342953034	3	P>A		No	ClinGen TOPMed
CA7286307 rs760413289	5	T>M		No	ClinGen ExAC gnomAD
CA7286306 rs751918638	6	G>C		No	ClinGen ExAC gnomAD
CA7286305 rs764571262	7	G>R		No	ClinGen ExAC gnomAD
rs776032120 CA7286303	8	G>S		No	ClinGen ExAC gnomAD
CA390504978 rs1594813301	9	L>Q		No	ClinGen Ensembl
rs1280735533 CA390504980	9	L>V		No	ClinGen TOPMed gnomAD
rs183558313 CA390504972	10	A>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs770249787 CA7286302	10	A>S		No	ClinGen ExAC gnomAD
rs1290755928 CA390504967	11	E>K		No	ClinGen gnomAD
rs747244194 CA7286298	13	E>K		No	ClinGen ExAC gnomAD
rs777504929 CA7286297	14	L>P		No	ClinGen ExAC gnomAD
CA263795008 rs778898705	16	P>L		No	ClinGen ExAC gnomAD
rs747944127 CA263795015	16	P>S		No	ClinGen ExAC TOPMed gnomAD
CA7286295 rs747944127	16	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7286291 rs779728610	18	R>K		No	ClinGen ExAC gnomAD
CA7286290 rs755776459	19	G>D		No	ClinGen ExAC gnomAD
rs750127630 CA7286289	20	R>S		No	ClinGen ExAC gnomAD
CA390504866 rs1260854499	22	G>V		No	ClinGen gnomAD
rs765768598 CA7286285	23	P>A		No	ClinGen ExAC TOPMed gnomAD
CA7286286 rs765768598	23	P>S		No	ClinGen ExAC TOPMed gnomAD
CA390504847 rs1237449951	24	Q>R		No	ClinGen gnomAD
CA390504836 rs1313795011	25	A>D		No	ClinGen gnomAD
CA7286283 rs776634122	25	A>T		No	ClinGen ExAC gnomAD
CA390504834 rs1313795011	25	A>V		No	ClinGen gnomAD
rs1398167225 CA390504821	27	R>G		No	ClinGen gnomAD
rs901446849 CA390504803	28	A>D		No	ClinGen TOPMed gnomAD
rs901446849 CA263794987	28	A>V		No	ClinGen TOPMed gnomAD
CA7286280 rs772340216	29	A>E		No	ClinGen ExAC gnomAD
CA7286279 rs772340216	29	A>G		No	ClinGen ExAC gnomAD
rs760784558 CA7286281	29	A>S		No	ClinGen ExAC gnomAD
rs747973852 CA390504776	31	R>P		No	ClinGen ExAC gnomAD
rs747973852 CA7286278	31	R>Q		No	ClinGen ExAC gnomAD
rs768585252 CA7286276	34	A>V		No	ClinGen ExAC gnomAD
rs1241088359 CA390504723	35	A>V		No	ClinGen gnomAD
rs974410008 RCV000729295 CA263794932	36	E>Q		No	ClinGen ClinVar TOPMed dbSNP
CA263794929 rs865884066	37	A>D		No	ClinGen Ensembl
CA390504707 rs1178632522	37	A>S		No	ClinGen gnomAD
TCGA novel	37	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390504695 rs1594813030	38	V>G		No	ClinGen Ensembl
CA390504699 rs1182576498	38	V>L		No	ClinGen gnomAD
rs1465083347 CA390504686	39	A>V		No	ClinGen gnomAD
rs755650000 CA7286273	40	R>*		No	ClinGen ExAC TOPMed gnomAD
rs755650000 CA7286274	40	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1350511523 RCV001288359 CA390504662	42	P>A		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs912884835 CA263794917	42	P>H		No	ClinGen gnomAD
rs912884835 CA390504659	42	P>L		No	ClinGen gnomAD
rs1350511523 CA390504661 RCV000733486	42	P>S		No	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1450297382 CA390504652	43	K>*		No	ClinGen TOPMed
CA263794906 rs989901764	47	W>*		No	ClinGen Ensembl
rs1436038166 CA390504617	47	W>G		No	ClinGen gnomAD
rs765533626 CA7286268	47	W>S		No	ClinGen ExAC gnomAD
rs1214411553 CA390504600	48	G>V		No	ClinGen TOPMed
CA390504591 rs1240580014	49	S>L		No	ClinGen TOPMed gnomAD
CA390504588 rs1381708415	50	R>Q		No	ClinGen gnomAD
CA390504589 rs550420394	50	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs866861619 CA263794893	51	R>L		No	ClinGen Ensembl
rs1594812918 CA390504562	52	F>L		No	ClinGen Ensembl
rs1594812901 CA390504549	53	E>D		No	ClinGen Ensembl
CA390504561 rs1391631696	53	E>K		No	ClinGen gnomAD
rs8177536 CA390504540	54	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs551000772 CA263794877	55	V>L		No	ClinGen 1000Genomes
rs368362223 CA7286267	56	G>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7286266 rs773348533	57	W>*		No	ClinGen ExAC
RCV000732764 CA390504523 rs1566666666	57	W>G		No	ClinGen ClinVar Ensembl dbSNP
rs1449621579 CA390504509	58	W>*		No	ClinGen gnomAD
CA7286265 rs767716034	58	W>G		No	ClinGen ExAC gnomAD
rs1212129575 CA390504465	62	A>G		No	ClinGen gnomAD
rs1212129575 CA390504468	62	A>V		No	ClinGen gnomAD
CA390504448 rs1490009112	64	V>L		No	ClinGen gnomAD
rs1229618792 CA390504435	65	T>M		No	ClinGen gnomAD
CA7286262 rs768363320	65	T>S		No	ClinGen ExAC
rs1331736251 CA390504423	67	L>P		No	ClinGen gnomAD
rs749131149 CA7286261	68	S>C		No	ClinGen ExAC gnomAD
CA390504415 rs749131149	68	S>Y		No	ClinGen ExAC gnomAD
CA390504388 rs1416603181	71	T>P		No	ClinGen TOPMed
CA263794847 rs775542942	72	R>C		No	ClinGen ExAC gnomAD
rs775542942 CA7286260	72	R>G		No	ClinGen ExAC gnomAD
rs1430148531 CA390504367	72	R>H		No	ClinGen gnomAD
CA390504343 rs769906558	74	H>P		No	ClinGen ExAC gnomAD
rs1474905955 CA390504339	74	H>Q		No	ClinGen TOPMed gnomAD
rs769906558 CA7286259	74	H>R		No	ClinGen ExAC gnomAD
CA390504346 rs1398447748	74	H>Y		No	ClinGen gnomAD
CA390504334 rs1377648360	75	R>C		No	ClinGen gnomAD
rs1200964688 CA390504332	75	R>H		No	ClinGen TOPMed gnomAD
RCV000596550 rs1200964688 CA390504330	75	R>P		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA390504333 rs1377648360	75	R>S		No	ClinGen gnomAD
rs778226799 CA263794843	76	L>F		No	ClinGen Ensembl
CA390504316 rs1349494437	76	L>S		No	ClinGen gnomAD
rs1594812669 CA390504304	77	D>G		No	ClinGen Ensembl
CA390504310 rs200992827	77	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390504293 rs151103906	78	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390504284 rs1484225371	79	P>T		No	ClinGen gnomAD
CA390504265 rs1195398546	80	P>L		No	ClinGen gnomAD
rs746662519 CA263794825	81	H>L		No	ClinGen ExAC TOPMed gnomAD
rs746662519 CA390504257	81	H>P		No	ClinGen ExAC TOPMed gnomAD
rs373944477 CA390504247	82	I>F		No	ClinGen gnomAD
rs563863191 CA390504244	82	I>S		No	ClinGen 1000Genomes TOPMed gnomAD
CA263794816 rs373944477	82	I>V		No	ClinGen gnomAD
CA390504236 rs1410397712	83	C>Y		No	ClinGen gnomAD
CA390502849 rs1159303427	84	W>*		No	ClinGen gnomAD
CA390502812 rs1402887960	88	H>D		No	ClinGen gnomAD
CA390502803 rs1406437008	88	H>Q		No	ClinGen gnomAD
TCGA novel	90	G>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7286241 rs769785987	94	S>T		No	ClinGen ExAC gnomAD
rs748900993 CA7286240	96	Y>C		No	ClinGen ExAC gnomAD
CA390502701 rs1181953365	97	I>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA390502697 rs1181953365	97	I>S		No	ClinGen gnomAD
CA10604322 rs368034790 RCV000271734	98	N>T		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
COSM1371253 CA7286238 rs746579730	99	R>H	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs570188924 CA263789315	101	F>L		No	ClinGen gnomAD
CA390502630 rs1202558314	103	F>I		No	ClinGen TOPMed
CA7286235 rs749589458	106	H>P		No	ClinGen ExAC gnomAD
CA7286214 rs535050470	114	I>L		No	ClinGen 1000Genomes ExAC gnomAD
rs757847083 CA7286213	118	G>S		No	ClinGen ExAC gnomAD
rs1294153626 CA390521089	121	S>G		No	ClinGen gnomAD
rs751523881 CA7286212	121	S>N		No	ClinGen ExAC gnomAD
rs777919971 CA7286211	123	Y>H		No	ClinGen ExAC gnomAD
CA390521041 rs1311616983	128	L>V		No	ClinGen gnomAD
rs765595759 CA7286208	133	G>E		No	ClinGen ExAC TOPMed gnomAD
CA7286209 rs752997994	133	G>R		No	ClinGen ExAC
rs1594800193 CA390520999	134	D>G		No	ClinGen Ensembl
CA7286207 rs759392806	134	D>N		No	ClinGen ExAC gnomAD
CA390520952 rs1348292687	140	S>N		No	ClinGen TOPMed
rs763489765 CA263841698	141	Y>H		No	ClinGen Ensembl
rs1060499766 RCV000454201 CA16609531	144	M>R		No	ClinGen ClinVar Ensembl dbSNP
rs1460601170 CA390520925	144	M>V		No	ClinGen TOPMed gnomAD
CA7286205 rs370887187	145	R>T		No	ClinGen ESP ExAC gnomAD
CA7286204 rs760676697	146	G>R		No	ClinGen ExAC
CA263840641 rs1011978759	151	L>F		No	ClinGen TOPMed
rs1085307985 RCV000490212 CA390520842	154	W>*		No	ClinGen ClinVar Ensembl dbSNP
rs1417050968 CA390520838	155	L>V		No	ClinGen gnomAD
CA263840633 rs372997076	156	V>F		No	ClinGen ESP TOPMed gnomAD
rs1594799102 CA390520830	156	V>G		No	ClinGen Ensembl
rs372997076 CA390520833	156	V>I		No	ClinGen ESP TOPMed gnomAD
rs1418710732 CA390520816	158	F>L		No	ClinGen TOPMed
CA390520806 rs370327528	160	Y>C		No	ClinGen ESP gnomAD
rs370327528 CA263840630	160	Y>S		No	ClinGen ESP gnomAD
CA390520800 rs1350829331	161	L>F		No	ClinGen gnomAD
CA390520799 rs1403691841	161	L>H		No	ClinGen TOPMed
rs753521608 CA7286189	162	T>I		No	ClinGen ExAC TOPMed gnomAD
CA390520778 rs1316201277	165	D>Y		No	ClinGen gnomAD
CA390520764 rs1248400501	167	S>F		No	ClinGen gnomAD
rs750346960 CA7286186	171	S>L		No	ClinGen ExAC TOPMed gnomAD
CA390520698 rs1446019788	178	A>D		No	ClinGen gnomAD
CA390520680 RCV000729951 rs1566657958	181	T>N		No	ClinGen ClinVar Ensembl dbSNP
CA390520681 rs1594799014	181	T>P		No	ClinGen Ensembl
rs769973167 CA7286151	191	Q>R		No	ClinGen ExAC gnomAD
CA390520592 rs1246421127	193	I>V		No	ClinGen gnomAD
CA390520571 rs745591622	196	D>A		No	ClinGen ExAC gnomAD
CA7286150 rs745591622	196	D>V		No	ClinGen ExAC gnomAD
CA390520574 rs1200584567	196	D>Y		No	ClinGen TOPMed gnomAD
CA390520563 rs1439975220	197	P>L		No	ClinGen gnomAD
rs933727248 CA263838768	197	P>S		No	ClinGen TOPMed
rs1316208686 CA390520533	202	F>V		No	ClinGen gnomAD
CA390520516 rs1594797737	204	M>R		No	ClinGen Ensembl
rs953498837 CA263838755	204	M>V		No	ClinGen gnomAD
CA390520503 rs1442648767	206	A>G		No	ClinGen gnomAD
rs1273971787 CA390520507	206	A>T		No	ClinGen gnomAD
CA390520499 rs1326409250	207	M>K		No	ClinGen TOPMed gnomAD
rs1326409250 CA390520498	207	M>T		No	ClinGen TOPMed gnomAD
CA263838740 rs531525138	207	M>V		No	ClinGen gnomAD
rs764878423 CA7286143 RCV000597859	213	Y>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7286141 rs750769526	214	N>S		No	ClinGen ExAC gnomAD
CA246126 RCV000178928 rs794727722	215	S>P		No	ClinGen ClinVar Ensembl dbSNP
rs147871747 CA7286139	216	C>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs140785104 CA7286135	218	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390520430 rs140785104	218	D>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390520421 rs1261847658	219	R>T		No	ClinGen TOPMed
RCV000597992 rs1555354184 CA390520401	220	P>L		No	ClinGen ClinVar Ensembl dbSNP
rs771201662 CA7286113	220	P>T		No	ClinGen ExAC TOPMed gnomAD
CA7286111 rs772895807 RCV000313904	221	F>Y		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA263837514 RCV000731348 rs911038793	222	S>C		No	ClinGen ClinVar TOPMed dbSNP
rs771995900 CA263837513	224	P>H		No	ClinGen ExAC TOPMed gnomAD
rs771995900 CA390520380 COSM1707631	224	P>L	Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7286108 rs778947923	226	W>*		No	ClinGen ExAC gnomAD
rs1161879094 CA390520348	228	W>*		No	ClinGen TOPMed gnomAD
rs1161879094 CA390520346	228	W>C		No	ClinGen TOPMed gnomAD
rs748862291 CA7286106	230	S>C		No	ClinGen ExAC gnomAD
rs779845158 CA7286105	231	L>V		No	ClinGen ExAC gnomAD
rs764392186 CA7286102	236	L>F		No	ClinGen ExAC gnomAD
CA7286101 rs758901445	237	A>P		No	ClinGen ExAC gnomAD
CA390520294 rs1218868274	238	G>S		No	ClinGen gnomAD
rs1555354172 RCV000499957 CA390520289	238	G>V		No	ClinGen ClinVar Ensembl dbSNP
CA7286100 rs753115104	239	A>V		No	ClinGen ExAC gnomAD
COSM1477801 rs1320752706 CA390520281	240	L>S	Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs765784041 CA7286099	245	V>I		No	ClinGen ExAC TOPMed gnomAD
CA390520227 rs1210612970	248	F>C		No	ClinGen gnomAD
rs1337866102 CA390520222	249	I>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776758910 CA390520203	252	Q>*		No	ClinGen ExAC gnomAD
rs776758910 CA7286098	252	Q>K		No	ClinGen ExAC gnomAD
CA7286096 rs760828168	253	V>A		No	ClinGen ExAC TOPMed gnomAD
CA390520190 rs1301716090	254	G>E		No	ClinGen gnomAD
CA7286094 rs771731594	258	I>V		No	ClinGen ExAC gnomAD
CA7286092 rs200542239	262	W>*		No	ClinGen ExAC gnomAD
rs1397497718 CA390520134	263	Y>D		No	ClinGen TOPMed
TCGA novel	267	D>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	269	S>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs755782894 CA7286088	269	S>R		No	ClinGen ExAC gnomAD
CA390520079 rs1488071044	271	S>L		No	ClinGen gnomAD
RCV000304908 CA10604737 rs886042829	277	K>E		No	ClinGen ClinVar TOPMed dbSNP
rs920215337 CA263836405	280	T>I		No	ClinGen TOPMed gnomAD
CA7286064 rs754310690	280	T>S		No	ClinGen ExAC TOPMed gnomAD
CA263836389 rs1015610207	283	V>I		No	ClinGen TOPMed
rs1214892306 CA390519994	284	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA7286060 rs767565365	284	L>V		No	ClinGen ExAC gnomAD
rs1248511525 CA390519956	290	P>L		No	ClinGen TOPMed gnomAD
CA390519951 rs1312138776	292	A>P		No	ClinGen gnomAD
rs1359718608 CA390519910	298	F>L		No	ClinGen gnomAD
CA390519899 rs1163771251	300	V>A		No	ClinGen gnomAD
CA390519893 rs1222025304	301	H>R		No	ClinGen TOPMed gnomAD
CA390519897 rs1459147308	301	H>Y		No	ClinGen gnomAD
CA7286053 rs776210140	303	M>R		No	ClinGen ExAC TOPMed gnomAD
CA7286054 rs758966312	303	M>V		No	ClinGen ExAC gnomAD
CA390519872 rs1428650782	304	V>L		No	ClinGen gnomAD
CA7286052 rs770433572	306	S>N		No	ClinGen ExAC gnomAD
CA390519847 rs1192178573	308	S>G		No	ClinGen gnomAD
CA390519827 rs1269967221	309	G>D		No	ClinGen gnomAD
rs775963305 CA7286037	310	P>T		No	ClinGen ExAC gnomAD
CA263835767 rs12885908	312	D>A		No	ClinGen Ensembl
CA7286034 rs772836124	313	G>S		No	ClinGen ExAC gnomAD
CA7286033 rs771776049	314	F>S		No	ClinGen ExAC gnomAD
CA390519786 rs1184852253	316	S>C		No	ClinGen TOPMed
CA390519773 rs1261175200	317	S>F		No	ClinGen TOPMed
rs749585390 CA7286032	319	F>L		No	ClinGen ExAC gnomAD
rs1283909571 CA390519756	320	Q>R		No	ClinGen gnomAD
CA7286030 rs770147545	321	A>T		No	ClinGen ExAC gnomAD
CA390519747 rs746422226 RCV000593297	322	R>G		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1322449377 CA390519746	322	R>Q		No	ClinGen gnomAD
rs746422226 CA7286029	322	R>W		No	ClinGen ExAC TOPMed gnomAD
CA390519734 rs1391641457	324	S>*		No	ClinGen TOPMed gnomAD
COSM958123 CA390519733 rs1391641457	324	S>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs372499983 CA7286027	325	G>E		No	ClinGen ESP ExAC TOPMed gnomAD
CA7286028 rs372499983	325	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs752569920 CA263835718	329	H>R		No	ClinGen TOPMed
rs139202802 CA7286023	330	N>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7286025 rs778138973	330	N>S		No	ClinGen ExAC gnomAD
CA390519696 rs778138973	330	N>T		No	ClinGen ExAC gnomAD
rs1239311323 CA390519644	336	H>Q		No	ClinGen gnomAD
CA7286009 COSM1221551 rs778014493	340	G>S	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs1239002319 CA390519618	341	S>T		No	ClinGen gnomAD
CA390519613 rs1198909311	342	V>M		No	ClinGen gnomAD
rs1446385048 CA390519595	344	T>I		No	ClinGen gnomAD
CA390519598 rs1285454398	344	T>S		No	ClinGen gnomAD
rs1594792631 CA390519587	346	K>*		No	ClinGen Ensembl
rs1432956587 CA390519575	347	N>K		No	ClinGen TOPMed
CA7286005 rs371158744	347	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs376392400 CA7286004	348	L>P		No	ClinGen ESP ExAC gnomAD
RCV000378130 rs886042094	349	R>missing		No	ClinVar dbSNP
CA390519569 rs141339355	349	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs756055923 CA390519567	349	R>L		No	ClinGen ExAC TOPMed gnomAD
CA7286002 rs749883166	350	M>V		No	ClinGen ExAC gnomAD
rs1194354693 CA7286000	351	A>V		No	ClinGen TOPMed gnomAD
CA390519550 rs1594792530	352	I>T		No	ClinGen Ensembl
CA390519552 rs1489119718	352	I>V		No	ClinGen gnomAD
CA263834192 rs267606970	353	G>C		No	ClinGen TOPMed gnomAD
CA7285998 rs373728275	353	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA7285997 rs751206357	354	Y>C		No	ClinGen ExAC gnomAD
rs1338852506 CA390519509	359	R>G		No	ClinGen gnomAD
rs980527840 CA263834172	359	R>K		No	ClinGen gnomAD
CA7285990 RCV000492933 rs772255938	364	E>K	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs748234371 CA7285989	366	I>V		No	ClinGen ExAC gnomAD
rs1002061368 CA263834125	367	G>S		No	ClinGen TOPMed gnomAD
TCGA novel	369	R>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs765039242 CA7285955	382	N>S		No	ClinGen ExAC gnomAD
rs756542695 CA7285954	383	N>D		No	ClinGen ExAC gnomAD
CA263827009 rs757648562	388	K>R		No	ClinGen Ensembl
rs768009023 CA7285952	390	H>P		No	ClinGen ExAC gnomAD
TCGA novel	391	N>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7285950 rs762246796	393	N>D		No	ClinGen ExAC gnomAD
rs774447896 CA7285949	393	N>K		No	ClinGen ExAC gnomAD
rs912096626 CA263825743	395	D>A		No	ClinGen gnomAD
CA263827000 rs938069083	395	D>N		No	ClinGen Ensembl
rs763018692 CA7285930	396	P>L		No	ClinGen ExAC gnomAD
CA7285929 rs368596603	397	L>V		No	ClinGen ESP ExAC gnomAD
CA7285926 rs200821647	399	P>S		No	ClinGen ExAC TOPMed gnomAD
CA390518479 rs1274364946	401	F>V		No	ClinGen TOPMed
rs1272724709 CA390518290	411	I>V		No	ClinGen TOPMed
CA390518244 rs773017813	413	R>*		No	ClinGen ExAC TOPMed gnomAD
rs1280088838 CA390518206	415	E>*		No	ClinGen gnomAD
rs1325687407 CA390518137	418	E>K		No	ClinGen gnomAD
rs1384019713 CA390517795	419	T>I		No	ClinGen TOPMed
rs727502855 CA7285905	421	R>G		No	ClinGen ExAC TOPMed gnomAD
CA390517773 rs1333486271	423	L>W		No	ClinGen Ensembl
rs767664651 CA390517735	428	H>L		No	ClinGen TOPMed gnomAD
CA263824249 rs767664651	428	H>R		No	ClinGen TOPMed gnomAD
rs188822248 CA263824244	431	P>L		No	ClinGen 1000Genomes
rs1361320389 CA390517713	432	M>V		No	ClinGen TOPMed
rs748862383 CA7285902	434	R>Q		No	ClinGen ExAC gnomAD
rs1174694922 CA390517691	435	K>R		No	ClinGen gnomAD
RCV000401359 CA7285901 rs779571965	436	H>Y		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1377692174 CA390517679	437	Y>H		No	ClinGen TOPMed
CA390517677 rs1414932826	437	Y>S		No	ClinGen TOPMed gnomAD
rs995812794 RCV001093129 CA263824232	438	Q>*		No	ClinGen ClinVar Ensembl dbSNP
rs1394668166 CA390517661	439	V>A		No	ClinGen gnomAD
CA7285900 rs769494827	440	T>I		No	ClinGen ExAC TOPMed gnomAD
CA263824221 rs769494827	440	T>S		No	ClinGen ExAC TOPMed gnomAD
CA7285897 rs758863296	442	Y>H		No	ClinGen ExAC gnomAD
CA7285896 rs753171353	443	G>S		No	ClinGen ExAC gnomAD
CA7285894 rs755038020	444	I>M		No	ClinGen ExAC gnomAD
CA263823649 rs376649599	446	G>E		No	ClinGen 1000Genomes ESP TOPMed gnomAD
CA390517592 rs1385017042	449	D>N		No	ClinGen TOPMed
rs756184152 CA7285871	450	S>A		No	ClinGen ExAC gnomAD
CA390517578 rs1286416645	451	N>D		No	ClinGen gnomAD
CA390517550 rs1350666962	454	W>L		No	ClinGen gnomAD
rs757110456 CA7285869	455	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs369392641 CA7285867	459	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs369392641 CA390517522	459	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA390517504 CA390517505 rs2270419	461	R>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7285866 rs17852978	462	K>E		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	463	F>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7285864 rs759017480	463	F>S		No	ClinGen ExAC gnomAD
CA7285863 rs776253752	465	N>S		No	ClinGen ExAC TOPMed gnomAD
rs774718832 CA7285860	468	K>R		No	ClinGen ExAC gnomAD
rs749770905 CA7285859	470	L>P		No	ClinGen ExAC gnomAD
rs780471723 CA7285858	472	S>R		No	ClinGen ExAC gnomAD
CA390517435 rs1279458453	473	R>L		No	ClinGen TOPMed gnomAD
COSM1177019 rs1279458453 CA390517433	473	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed gnomAD
rs746000047 CA7285857	475	R>C	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA390517391 rs1437497738	480	V>I		No	ClinGen gnomAD
rs267606968 CA390517378	482	G>D		No	ClinGen gnomAD
rs1489769818 CA390517381	482	G>R		No	ClinGen gnomAD
CA7285853 rs199655504	488	S>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA390517326 rs1185504789	489	G>R		No	ClinGen gnomAD
CA390517304 CA7285850 rs765146356	490	K>N		No	ClinGen ExAC gnomAD
CA7285851 rs752659411	490	K>T		No	ClinGen ExAC gnomAD
rs571153709 CA7285849	491	V>L		No	ClinGen 1000Genomes ExAC gnomAD
TCGA novel	492	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs727503874 CA233772	493	P>L		No	ClinGen ExAC gnomAD
CA7285847 rs727503874	493	P>R		No	ClinGen ExAC gnomAD
CA7285846 rs765964692	495	W>S		No	ClinGen ExAC TOPMed gnomAD
CA263823090 rs939879717	496	G>D		No	ClinGen TOPMed
CA7285830 rs765843443	497	W>*		No	ClinGen ExAC TOPMed gnomAD
CA7285829 rs765843443	497	W>L		No	ClinGen ExAC TOPMed gnomAD
rs141248257 CA7285828	499	Q>H		No	ClinGen 1000Genomes ExAC gnomAD
CA7285826 rs767138307 COSM322751	501	E>A	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7285825 rs763308182	504	C>G		No	ClinGen ExAC gnomAD
rs1433722386 CA390517050	506	P>T		No	ClinGen gnomAD
rs1159921043 CA390517038	507	Y>H		No	ClinGen gnomAD
CA7285822 rs186872560	510	E>K		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7285821 rs777320717	511	T>I		No	ClinGen ExAC gnomAD
CA7285819 rs778052789	513	N>S		No	ClinGen ExAC gnomAD
CA7285818 rs772189575	514	S>F		No	ClinGen ExAC gnomAD
rs754805961 CA7285815	515	I>M		No	ClinGen ExAC gnomAD
rs778602123 CA7285816	515	I>V		No	ClinGen ExAC gnomAD
rs753751792 CA7285814	516	W>R		No	ClinGen ExAC gnomAD
rs1379963762 CA390516842	519	E>K		No	ClinGen TOPMed
rs886043915 CA10606108 RCV000327203	520	D>N		No	ClinGen ClinVar Ensembl dbSNP
rs886042386 CA10604163 RCV000311553	523	N>T		No	ClinGen ClinVar TOPMed dbSNP
CA7285811 rs749936639	524	P>L		No	ClinGen ExAC gnomAD
CA7285810 rs767137783	525	K>R		No	ClinGen ExAC TOPMed gnomAD
CA7285800 rs773179548	527	P>L		No	ClinGen ExAC gnomAD
TCGA novel	527	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs772296094 CA7285799	529	I>V		No	ClinGen ExAC gnomAD
rs1192521534 CA390516448	530	S>I		No	ClinGen gnomAD
CA390516399 rs1291437382	533	V>E		No	ClinGen gnomAD
rs786205625 RCV000171478	535	Q>missing		No	ClinVar dbSNP
rs965673805 CA263822260	536	P>S		No	ClinGen Ensembl
rs1340953706 CA7285793	537	S>G		No	ClinGen gnomAD
CA7285792 rs779896099	537	S>N		No	ClinGen ExAC gnomAD
CA7285791 rs756055811	538	F>L		No	ClinGen ExAC gnomAD
rs1020976496 CA263822228	542	L>F		No	ClinGen TOPMed
CA390516240 rs560947848	543	L>P		No	ClinGen TOPMed
CA263822226 rs560947848	543	L>R		No	ClinGen TOPMed
CA390516209 rs1194093757	545	S>C		No	ClinGen gnomAD
rs201487818 CA7285789	546	H>P		No	ClinGen ExAC gnomAD
rs756834697 CA7285788	547	M>T		No	ClinGen ExAC gnomAD
CA390516118 rs958000996	551	R>L		No	ClinGen TOPMed gnomAD
rs958000996 CA263822193	551	R>Q		No	ClinGen TOPMed gnomAD
rs886043110 RCV000291337	553	N>missing		No	ClinVar dbSNP
CA390515592 rs1338558574	558	P>S		No	ClinGen gnomAD
rs1308963212 CA390515550	561	N>S		No	ClinGen TOPMed
CA7285761 rs369188153	562	E>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7285759 rs775731458	564	T>A		No	ClinGen ExAC gnomAD
CA7285760 rs775731458	564	T>S		No	ClinGen ExAC gnomAD
rs376689848 CA7285756	567	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000291459 rs727502858 RCV002222410 CA295441	567	P>S		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs777451121 CA7285755	569	H>Q		No	ClinGen ExAC
rs1433104590 CA390515376	570	W>C		No	ClinGen gnomAD
CA263819453 rs910353997	570	W>L		No	ClinGen Ensembl
CA7285752 rs747778362	572	I>V		No	ClinGen ExAC TOPMed gnomAD
rs142870987 COSM3983714 CA7285750	574	Y>C	ovary [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs142870987 CA7285751	574	Y>F		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142870987 CA390515304	574	Y>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs530533731 CA7285749	575	Q>E		No	ClinGen 1000Genomes ExAC gnomAD
rs1566644277 CA390515197	576	G>S		No	ClinGen Ensembl
CA390515183 rs1355247291	577	L>I		No	ClinGen gnomAD
rs370529777 CA263818969	580	S>P		No	ClinGen ESP
rs1395088795 CA390515131	581	G>A		No	ClinGen gnomAD
CA263818961 rs902984752	582	V>F		No	ClinGen TOPMed
TCGA novel	582	V>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA390515124 rs902984752	582	V>L		No	ClinGen TOPMed
CA390515109 rs1459635099	583	N>S		No	ClinGen TOPMed gnomAD
CA7285723 rs753539960	584	D>Y		No	ClinGen ExAC gnomAD
CA263818949 rs559776913	585	T>A		No	ClinGen gnomAD
CA390515078 rs797019891 RCV000995221	585	T>I		No	ClinGen ClinVar Ensembl dbSNP
CA390515084 rs559776913	585	T>P		No	ClinGen gnomAD
CA263818947 rs797019891	585	T>R		No	ClinGen Ensembl
RCV000734358 rs1566644193 CA390515065	586	D>G		No	ClinGen ClinVar Ensembl dbSNP
RCV000439368 CA7285721 rs766169193	588	R>*		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7285720 rs551230843	588	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000599257 rs1555351889	589	V>missing		No	ClinVar dbSNP
rs767562604 CA7285718	592	L>F		No	ClinGen ExAC gnomAD
rs767562604 CA263818897	592	L>I		No	ClinGen ExAC gnomAD
rs367975341 CA7285717	592	L>P		No	ClinGen ESP ExAC gnomAD
CA390514955 rs1234036978	595	P>A		No	ClinGen TOPMed
CA263818882 rs1015129250	595	P>L		No	ClinGen TOPMed gnomAD
rs1352573300 CA390514916	596	V>L		No	ClinGen gnomAD
CA7285686 rs749329895	597	V>I		No	ClinGen ExAC gnomAD
rs1409327493 COSM1194066 CA390514879	598	W>C	lung [Cosmic]	No	ClinGen cosmic curated gnomAD
CA7285683 rs375251549	599	W>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA7285684 rs544040071	599	W>R		No	ClinGen 1000Genomes ExAC gnomAD
rs781102865 CA7285682	600	L>P		No	ClinGen ExAC gnomAD
CA390514828 rs1566643981 RCV000733072	602	L>P		No	ClinGen ClinVar Ensembl dbSNP
rs1278502718 CA390514814	603	L>F		No	ClinGen gnomAD
rs953136171 CA263818598	604	S>G		No	ClinGen Ensembl
CA7285679 rs764005474	604	S>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA7285678 rs762458669	604	S>R		No	ClinGen ExAC gnomAD
CA7285676 COSM1371249 rs201117837	606	A>T	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA390514619 rs1287466396	608	Y>F		No	ClinGen gnomAD
CA390514623 rs1370847061	608	Y>H		No	ClinGen gnomAD
CA390514621 rs1287466396	608	Y>S		No	ClinGen gnomAD
CA390514615 rs1376890949	609	L>F		No	ClinGen gnomAD
CA390514610 rs1555351859	610	L>I		No	ClinGen Ensembl
CA390514606 rs1435600751	610	L>P		No	ClinGen TOPMed
rs776308682 CA7285674	611	S>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA
rs772405371 RCV000363399 CA7285673	612	G>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA390514587 rs1400122508	613	S>R		No	ClinGen TOPMed
RCV000992699 rs762148813 CA7285672	615	I>V		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA7285671 rs774852161	616	A>T		No	ClinGen ExAC gnomAD
rs1555351849 RCV000517285	623	A>missing		No	ClinVar dbSNP
rs1476426767 CA390514484	623	A>V		No	ClinGen gnomAD
CA263818521 rs866611669	626	P>L		No	ClinGen Ensembl
rs745680157 CA7285666	627	A>E		No	ClinGen ExAC TOPMed gnomAD
CA7285667 rs770033098	627	A>T		No	ClinGen ExAC gnomAD
rs745680157 CA263818480	627	A>V		No	ClinGen ExAC TOPMed gnomAD
CA7285665 rs757116387	628	E>G		No	ClinGen ExAC gnomAD
CA7285663 rs777708372	629	V>F		No	ClinGen ExAC gnomAD
CA390514425 rs1594884957	629	V>G		No	ClinGen Ensembl
rs777708372 CA7285664	629	V>I		No	ClinGen ExAC gnomAD
rs111857094 CA263818436	630	A>S		No	ClinGen TOPMed
rs111857094 CA390514422	630	A>T		No	ClinGen TOPMed
CA223071 rs398124262 RCV000081568	632	L>S		No	ClinGen ClinVar Ensembl dbSNP
CA390514255 rs1433953790	633	S>F		No	ClinGen gnomAD
rs1200536141 CA390514250	634	Q>*		No	ClinGen TOPMed
CA390514233 rs1329064455	635	V>D		No	ClinGen gnomAD
CA7285596 rs756994424	636	L>P		No	ClinGen ExAC gnomAD
rs1454380993 CA390514185	640	G>S		No	ClinGen gnomAD
CA7285593 rs754291354	641	G>S		No	ClinGen ExAC TOPMed gnomAD
CA390514158 rs1233838351	642	Q>*		No	ClinGen gnomAD
CA390514142 rs966965226	643	V>F		No	ClinGen TOPMed gnomAD
CA263817523 rs201358407	645	L>F		No	ClinGen TOPMed gnomAD
CA7285589 rs767592155	646	G>S		No	ClinGen ExAC TOPMed gnomAD
CA7285588 rs774602296	648	T>I		No	ClinGen ExAC TOPMed gnomAD
rs143747653 CA263817462	650	H>R		No	ClinGen ESP
CA7285586 rs762802915	653	P>A		No	ClinGen ExAC gnomAD
CA7285584 rs769782374	654	F>C		No	ClinGen ExAC TOPMed gnomAD
CA7285583 rs745314489	655	F>L		No	ClinGen ExAC gnomAD
TCGA novel	655	F>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA263817430 rs372939905	659	R>G		No	ClinGen ESP ExAC gnomAD
TCGA novel	662	Y>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs143329994 CA7285577	664	H>Q		No	ClinGen ESP ExAC gnomAD
rs1594883699 CA390513879	664	H>Y		No	ClinGen Ensembl
rs767559645 CA7285574	670	M>V		No	ClinGen ExAC TOPMed gnomAD
CA263817356 rs891481939	674	S>G		No	ClinGen TOPMed
rs764302809 CA7285571	675	M>I		No	ClinGen ExAC gnomAD
rs538101421 CA263817324	678	G>S		No	ClinGen Ensembl
rs756482311 CA7285558	679	I>V		No	ClinGen ExAC gnomAD
rs1429159182 CA390513666	682	D>N		No	ClinGen gnomAD
rs1186812417 CA390513641	683	T>I		No	ClinGen gnomAD
rs1186812417 CA390513645	683	T>N		No	ClinGen gnomAD
rs1594883407 CA390513651	683	T>P		No	ClinGen Ensembl
CA390513639 rs1261034497	684	L>V		No	ClinGen TOPMed
CA390513621 rs1463463670	685	L>P		No	ClinGen gnomAD
rs764251403 CA7285554	689	A>D		No	ClinGen ExAC gnomAD
rs764251403 CA390513580	689	A>G		No	ClinGen ExAC gnomAD
CA390513582 rs1566642572	689	A>P		No	ClinGen Ensembl
rs1307513608 CA390513573	690	W>R		No	ClinGen TOPMed gnomAD
rs1299147484 CA390513559	691	G>S		No	ClinGen gnomAD
rs752902455 CA7285552	692	L>F		No	ClinGen ExAC gnomAD
rs1361876642 CA390513543	692	L>S		No	ClinGen TOPMed
rs1054015193 CA263816972	693	A>D		No	ClinGen TOPMed gnomAD
rs1054015193 CA390513529	693	A>V		No	ClinGen TOPMed gnomAD
rs765061014 CA7285551	694	S>L		No	ClinGen ExAC TOPMed gnomAD
CA390513507 rs398124263	695	W>*		No	ClinGen ExAC TOPMed gnomAD
RCV000081570 rs398124263 CA223074	695	W>C		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs76700503 CA223077 RCV000081571	696	P>S		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1038933045 CA263816930	697	L>P		No	ClinGen gnomAD
RCV000593441 rs1434643039 CA390513486	698	A>P		No	ClinGen ClinVar dbSNP gnomAD
rs1434643039 CA390513485	698	A>T		No	ClinGen gnomAD
CA390513480 rs1265025838	698	A>V		No	ClinGen TOPMed gnomAD
rs1276408851 CA390513458	700	G>D		No	ClinGen gnomAD
rs1480753673 CA390513465	700	G>S		No	ClinGen TOPMed gnomAD
rs146367996 CA7285546	701	I>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA390513445 rs1304757053	701	I>M		No	ClinGen gnomAD
rs146367996 CA7285547	701	I>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142381375 CA7285545	702	H>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA390513440 rs1260013088	702	H>Y		No	ClinGen TOPMed
CA7285544 rs770189006	703	V>A		No	ClinGen ExAC TOPMed gnomAD
CA390513428 rs1183341063 RCV000592724	703	V>L		No	ClinGen ClinVar TOPMed dbSNP
rs1352547589 CA390513397	706	I>V		No	ClinGen gnomAD
CA390513359 rs1306418373	709	L>V		No	ClinGen gnomAD
rs1173036217 CA390513307	714	A>S		No	ClinGen gnomAD
CA390513300 rs1467500230	714	A>V		No	ClinGen gnomAD
TCGA novel	715	Y>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1197893690 CA390513283	716	S>C		No	ClinGen TOPMed gnomAD
rs771326356 CA7285525	717	F>L		No	ClinGen ExAC gnomAD
rs747493658 CA7285524	719	L>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA390512721 rs1318291663	720	F>S		No	ClinGen gnomAD
CA390512705 rs1300173770	722	P>R		No	ClinGen TOPMed
rs116434191 CA263815815	725	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs974806000 CA263815818	725	Y>C		No	ClinGen TOPMed gnomAD
CA390512686 rs1471500386	726	G>R		No	ClinGen TOPMed gnomAD
rs1367401943 CA390512670	728	V>F		No	ClinGen gnomAD
CA390512664 rs1165971014	729	G>C		No	ClinGen TOPMed gnomAD
rs1188692334 CA390512662	729	G>D		No	ClinGen gnomAD
rs1260990369 CA390512656	730	P>L		No	ClinGen TOPMed
CA7285522 rs748185057	730	P>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs1208439762 CA390512650	732	A>T		No	ClinGen gnomAD
rs1292248431 RCV000593976	733	Q>missing		No	ClinVar dbSNP
CA7285521 rs779143112	734	D>E		No	ClinGen ExAC gnomAD
CA390512624 rs1355973284	735	P>L		No	ClinGen gnomAD
RCV000521594 rs774412117	736	Q>missing		No	ClinVar dbSNP
CA7285520 rs755181337	736	Q>R		No	ClinGen ExAC
CA390512613 rs1298383968	737	S>N		No	ClinGen gnomAD
CA7285518 rs754150493	738	P>A		No	ClinGen ExAC gnomAD
CA390512608 rs754150493	738	P>S		No	ClinGen ExAC gnomAD
CA7285517 rs779969764	740	A>T		No	ClinGen ExAC TOPMed gnomAD
CA263815732 rs899640063	742	L>R		No	ClinGen Ensembl
CA7285514 rs767359121	743	R>K		No	ClinGen ExAC gnomAD
CA390512570 rs1566641697	744	W>*		No	ClinGen Ensembl
CA390512558 rs1403218808	746	D>N		No	ClinGen gnomAD
rs1389612934 CA390512554	746	D>V		No	ClinGen gnomAD
rs1594882009 CA390512546	747	S>L		No	ClinGen Ensembl
rs763761881 CA7285511	750	F>I		No	ClinGen ExAC gnomAD
TCGA novel	750	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1423335226 CA390512521	751	F>G		No	ClinGen gnomAD

3 associated diseases with Q9UKY4

[MIM: 613150]: Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A2 (MDDGA2)

An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:15894594, ECO:0000269|PubMed:16701995, ECO:0000269|PubMed:17878207, ECO:0000269|PubMed:19138766, ECO:0000269|PubMed:22958903}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 613156]: Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B2 (MDDGB2)

An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. {ECO:0000269|PubMed:17634419, ECO:0000269|PubMed:19299310}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 613158]: Muscular dystrophy-dystroglycanopathy limb-girdle C2 (MDDGC2)

An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal. {ECO:0000269|PubMed:17878207, ECO:0000269|PubMed:17923109}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

An autosomal recessive disorder characterized by congenital muscular dystrophy associated with cobblestone lissencephaly and other brain anomalies, eye malformations, profound intellectual disability, and death usually in the first years of life. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease. {ECO:0000269|PubMed:15894594, ECO:0000269|PubMed:16701995, ECO:0000269|PubMed:17878207, ECO:0000269|PubMed:19138766, ECO:0000269|PubMed:22958903}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal recessive disorder characterized by congenital muscular dystrophy associated with intellectual disability and mild structural brain abnormalities. {ECO:0000269|PubMed:17634419, ECO:0000269|PubMed:19299310}. Note=The disease is caused by variants affecting the gene represented in this entry.
An autosomal recessive muscular dystrophy with onset after ambulation is achieved. MDDGC2 is characterized by increased serum creatine kinase and mild muscle weakness. Muscle biopsy shows dystrophic changes, inflammatory changes, and severely decreased alpha-dystroglycan. Cognition is normal. {ECO:0000269|PubMed:17878207, ECO:0000269|PubMed:17923109}. Note=The disease is caused by variants affecting the gene represented in this entry.

3 regional properties for Q9UKY4

Type	Name	Position	InterPro Accession
domain	Glycosyl transferase family 39/83	133 - 376	IPR003342
domain	MIR motif	404 - 591	IPR016093
domain	Protein O-mannosyl-transferase, C-terminal four TM domain	611 - 818	IPR032421

Functions

		Description
EC Number	2.4.1.109	Hexosyltransferases
Subcellular Localization	Endoplasmic reticulum membrane ; Multi-pass membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

6 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.
endoplasmic reticulum	The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached).
endoplasmic reticulum membrane	The lipid bilayer surrounding the endoplasmic reticulum.
integral component of membrane	The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane.
nucleolus	A small, dense body one or more of which are present in the nucleus of eukaryotic cells. It is rich in RNA and protein, is not bounded by a limiting membrane, and is not seen during mitosis. Its prime function is the transcription of the nucleolar DNA into 45S ribosomal-precursor RNA, the processing of this RNA into 5.8S, 18S, and 28S components of ribosomal RNA, and the association of these components with 5S RNA and proteins synthesized outside the nucleolus. This association results in the formation of ribonucleoprotein precursors; these pass into the cytoplasm and mature into the 40S and 60S subunits of the ribosome.
nucleoplasm	That part of the nuclear content other than the chromosomes or the nucleolus.

3 GO annotations of molecular function

Name	Definition
dolichyl-phosphate-mannose-protein mannosyltransferase activity	Catalysis of the reaction: dolichyl phosphate D-mannose + protein = dolichyl phosphate + O-D-mannosylprotein.
mannosyltransferase activity	Catalysis of the transfer of a mannosyl group to an acceptor molecule, typically another carbohydrate or a lipid.
metal ion binding	Binding to a metal ion.

2 GO annotations of biological process

Name	Definition
positive regulation of protein O-linked glycosylation	Any process that activates or increases the frequency, rate or extent of protein O-linked glycosylation.
protein O-linked mannosylation	The transfer of mannose from dolichyl activated mannose to the hydroxyl group of a seryl or threonyl residue of a protein acceptor molecule, to form an O-linked protein-sugar linkage.

4 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P47190	PMT3	Dolichyl-phosphate-mannose--protein mannosyltransferase 3	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
P31382	PMT2	Dolichyl-phosphate-mannose--protein mannosyltransferase 2	Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast)	PR
Q9VTK2	rt	Protein O-mannosyltransferase 1	Drosophila melanogaster (Fruit fly)	PR
Q8BGQ4	Pomt2	Protein O-mannosyl-transferase 2	Mus musculus (Mouse)	PR

10	20	30	40	50	60
MPPATGGGLA	ESELRPRRGR	CGPQAARAAG	RDVAAEAVAR	SPKRPAWGSR	RFEAVGWWAL
70	80	90	100	110	120
LALVTLLSFA	TRFHRLDEPP	HICWDETHFG	KMGSYYINRT	FFFDVHPPLG	KMLIGLAGYL
130	140	150	160	170	180
SGYDGTFLFQ	KPGDKYEHHS	YMGMRGFCAF	LGSWLVPFAY	LTVLDLSKSL	SAALLTAALL
190	200	210	220	230	240
TFDTGCLTLS	QYILLDPILM	FFIMAAMLSM	VKYNSCADRP	FSAPWWFWLS	LTGVSLAGAL
250	260	270	280	290	300
GVKFVGLFII	LQVGLNTIAD	LWYLFGDLSL	SLVTVGKHLT	ARVLCLIVLP	LALYTATFAV
310	320	330	340	350	360
HFMVLSKSGP	GDGFFSSAFQ	ARLSGNNLHN	ASIPEHLAYG	SVITVKNLRM	AIGYLHSHRH
370	380	390	400	410	420
LYPEGIGARQ	QQVTTYLHKD	YNNLWIIKKH	NTNSDPLDPS	FPVEFVRHGD	IIRLEHKETS
430	440	450	460	470	480
RNLHSHYHEA	PMTRKHYQVT	GYGINGTGDS	NDFWRIEVVN	RKFGNRIKVL	RSRIRFIHLV
490	500	510	520	530	540
TGCVLGSSGK	VLPKWGWEQL	EVTCTPYLKE	TLNSIWNVED	HINPKLPNIS	LDVLQPSFPE
550	560	570	580	590	600
ILLESHMVMI	RGNSGLKPKD	NEFTSKPWHW	PINYQGLRFS	GVNDTDFRVY	LLGNPVVWWL
610	620	630	640	650	660
NLLSIALYLL	SGSIIAVAMQ	RGARLPAEVA	GLSQVLLRGG	GQVLLGWTLH	YFPFFLMGRV
670	680	690	700	710	720
LYFHHYFPAM	LFSSMLTGIL	WDTLLRLCAW	GLASWPLARG	IHVAGILSLL	LGTAYSFYLF
730	740
HPLAYGMVGP	LAQDPQSPMA	GLRWLDSWDF