AiPD: Autoinhibited Protein Database

O95817

Gene name	BAG3 (BIS)
Protein name	BAG family molecular chaperone regulator 3
Names	BAG-3, Bcl-2-associated athanogene 3, Bcl-2-binding protein Bis, Docking protein CAIR-1
Species	Homo sapiens (Human)
KEGG Pathway	hsa:9531
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

100-325 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

100-325 (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 O95817

Entry ID	Method	Resolution	Chain	Position	Source
AF-O95817-F1	Predicted				AlphaFoldDB

698 variants for O95817

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV001209747 rs1846841605	1	M>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001107228 RCV001104468 rs956429406	3	A>S	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000414454 rs777752849 RCV001836811 RCV001047745 CA5716202	5	T>A	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001705902 rs137965903 RCV000226527 CA295667 RCV000154683 RCV000620469	9	M>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1275338906 CA378294025 RCV001239979	10	M>I	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs367917821 RCV001221205 CA5716205 RCV003145412	12	V>M	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1474784659 CA378294059 RCV000794067	16	N>D	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs727502895 RCV001052418 RCV000150172 CA175276 RCV001545070	17	G>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000648827 RCV000208446 CA088635 rs727502896	19	R>C	Primary dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1846842832 RCV001214159	20	D>N	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001295494 rs1846843077	23	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000319672 CA5716208 rs747846089 RCV002365289 RCV000524859	23	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002379920 RCV001698974 RCV000150174 RCV001240816 RCV001850034 RCV001780179 rs727502897	25	G>missing	Primary dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000615326 rs1554875409 RCV001008646 RCV002483674 RCV002413693 CA378294121	26	W>*	Primary dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA5716212 RCV001055637 RCV002374929 rs766796091	30	I>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000156812 RCV000786108 rs727505283	34	T>missing	Primary dilated cardiomyopathy [ClinVar]	Yes	ClinVar dbSNP
RCV003163698 rs1846844070 RCV001220639	36	W>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
CA5716218 RCV001043205 rs764177199 RCV001759749	37	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1064796808 RCV001228400 RCV000480567	39	F>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
rs1846844504 RCV001203922	42	H>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000469809 rs747820097 RCV000786109 CA5716225	45	R>C	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1229267488 RCV001231947 CA378294267	48	T>K	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs794728980 RCV000183322 CA308242 RCV001852349	48	T>P	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000686115 CA378294273 rs1564767043	49	W>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000228034 RCV003128602 CA5716231 rs777100532 RCV002399827	56	S>C	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000648829 RCV001766399 CA5716232 rs138785335	58	G>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP
rs1212877946 CA378294344 RCV001300276	60	K>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA5716259 RCV001054461 rs187116556	61	E>K	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001343866 rs1847119419	62	T>I	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000587026 RCV000618458 RCV000852637 CA181162 RCV000154682 RCV001084050 rs144041999	63	P>A	Atrial fibrillation Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs780615753 RCV000492825 RCV002413362 CA5716261 RCV000529996	64	S>F	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000547161 RCV002415900 rs572036022 CA5716263 RCV000221765	67	N>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV002525779 RCV000478205 rs1554876984	70	S>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000648838 rs35434411 RCV001707755 RCV001797760 RCV002420602 CA5716267	71	R>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000283994 RCV000228853 RCV000037889 RCV000588408 RCV000576846 rs35434411 RCV000248400 VAR_048344 CA282461	71	R>Q	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000852638 RCV000456156 RCV001811196 RCV000023349 VAR_065479 RCV002415426 rs387906874 CA259788	71	R>W	Primary dilated cardiomyopathy Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 CMD1HH [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA175282 rs141355480 RCV000472056 RCV002444612 RCV000150175 RCV001090931 VAR_066777 RCV000852639	77	P>L	Cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001225017 CA378294692 rs1277311006	78	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1847120690 RCV001213003	80	R>M	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000037891 RCV003149635 RCV000513197 CA282464 RCV001082899 RCV000988453 CA214219707 RCV000852640 rs151331972	83	H>Q	Cardiomyopathy Primary dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP
RCV000599448 RCV001245335 CA378294739 rs1554876999	86	Y>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1564773559 RCV000678699	87	P>missing	Primary dilated cardiomyopathy [ClinVar]	Yes	ClinVar dbSNP
RCV000697966 rs1554877001 RCV000617895 CA378294747	88	Q>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000412874 RCV000460767 CA16042712 RCV002429339 rs1057517945	90	R>*	Variant assessed as Somatic; impact. Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
rs1847121929 RCV001342369	91	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
rs1564773589 RCV000686092	93	Y>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000622150 RCV000154684 CA181165 rs145393807 VAR_066778 RCV000172519 RCV001085873 RCV000988454 RCV000853125	94	I>F	Primary dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs727502898 RCV000150176 RCV002514876 CA175285	95	P>A	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA351714 RCV000208023 rs869025364	95	P>L	Primary familial hypertrophic cardiomyopathy [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA5716282 rs747274078 COSM427143 RCV000471056	97	P>S	Variant assessed as Somatic; 0.0 impact. breast Myofibrillar myopathy 6 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1554877016 RCV000648828 CA378294828	102	G>D	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs566015884 CA5716288 RCV001205133	105	N>K	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000797603 RCV000825654 rs1200121142 CA378294854	106	R>Q	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs767341152 RCV002466568 CA5716289 RCV000700410 RCV002325409	106	R>W	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5716293 CA378294861 RCV000648832 rs730880053 RCV000786111	108	V>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ExAC gnomAD ClinVar dbSNP
rs730880053 CA346194 RCV000157120 RCV001857552	108	V>M	Primary dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs753302310 CA214219867 RCV000816367 RCV002325605	109	H>Y	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1344275862 RCV001230677	112	H>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000472782 CA5716300 RCV002470861 RCV002451119 rs781093275	113	V>I	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000800254 CA378294894 rs1589628873	114	Y>H	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001067452 CA5716303 RCV001107229 VAR_066779 RCV001107868 rs774241343	115	P>S	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA5716304 RCV001246427 rs761808716	116	Q>H	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA10576775 RCV000218094 RCV002517531 rs876657746	121	R>Q	Variant assessed as Somatic; 0.0 impact. Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
CA259790 RCV000211711 rs387906875 RCV000627789 RCV000254992 RCV000023350 RCV000247382	123	R>*	Primary dilated cardiomyopathy Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV000171875 rs199991063 RCV002345584 RCV001049731 CA237043	123	R>Q	Variant assessed as Somatic; 0.0 impact. Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
TCGA novel rs1847125430 RCV001315058	126	A>V	Variant assessed as Somatic; impact. Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinVar NCI-TCGA dbSNP
RCV000214731 CA10576776 RCV002354605 rs876657747 RCV001786343 RCV000688851	129	A>V	Variant assessed as Somatic; 0.0 impact. Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
RCV001049882 rs778224688 CA5716312	131	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001310578 rs375257731 RCV002354339 RCV000471391 RCV001107870 RCV000150177 CA175288 RCV001107869	134	S>T	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1847126002 RCV002355011 RCV001045144	135	Q>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV002671468 rs781456794 CA308222	137	P>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000465666 RCV001711897 RCV002328798 rs556465096 RCV000312020 RCV000399357 CA5716314	139	R>W	Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000658579 RCV000648846 RCV002329241 rs780169403 CA5716316	140	G>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000243456 RCV001517578 CA282467 RCV000369042 RCV000037893 rs2234962 RCV001811266 RCV000276835 VAR_048345	151	C>R	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001228241 rs1405459015 CA378295142	154	V>A	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA16605989 RCV000421388 RCV002339040 rs376198104 RCV001338064	154	V>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD
RCV001704498 CA5716322 RCV000477421 rs376198104	154	V>M	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC dbSNP gnomAD
RCV000852641 VAR_066780 CA135022 RCV000353959 RCV000590411 RCV001080256 RCV000315530 rs61756328 RCV000247095 RCV000037894	155	A>T	Hypertrophic cardiomyopathy Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000156087 RCV000379103 RCV000322081 RCV003144143 RCV000559434 RCV002336334 CA184149 rs572038196	156	A>G	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000819791 CA5716324 rs572038196	156	A>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA5716327 rs541080567 RCV001247725 RCV002339689	157	A>V	Variant assessed as Somatic; 0.0 impact. Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA5716328 rs369981590 RCV001058349	158	A>V	Variant assessed as Somatic; 0.0 impact. Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
rs1339191406 RCV001244032	160	A>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000261469 RCV001079608 RCV000318585 rs139438727 RCV000587453 RCV000037895	160	A>missing	Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
rs373446989 RCV001227937 CA5716332	162	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000648831 RCV000175771 RCV001102645 RCV001104557 RCV002326959 CA241532 rs746956979 RCV000845486	163	P>S	Primary familial dilated cardiomyopathy Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs143756613 RCV001812329 RCV001871670 CA5716333	165	S>F	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV003144395 RCV001230753 CA5716336 RCV000617770 rs543720798	167	G>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1554877071 CA378295216 RCV000648840	168	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1060502812 RCV000845459 CA16612844 RCV000465438 RCV002339172	169	E>D	Primary familial dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000493885 CA5716359 RCV002350100 RCV000648835 rs140904592	170	R>Q	Variant assessed as Somatic; 0.0 impact. Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000648826 CA237046 RCV000171876 RCV002345585 rs200479768	170	R>W	Variant assessed as Somatic; 4.781e-05 impact. Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA378295245 rs1589630001 RCV000803352	172	Q>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1847160177 RCV001039210	172	Q>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
CA16622105 RCV000543403 rs1472073020	174	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1847160512 RCV001343181	175	A>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000691807 CA378295294 rs1564774433	179	C>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA378295306 RCV001047210 RCV003144394 rs1482925321 RCV000621116	181	S>F	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV001869211 RCV000788841 CA378295313 rs1428247151	182	S>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000290071 CA346197 RCV000472568 RCV000157121 RCV000382707 RCV002345527 rs730880054 RCV000786110	185	S>L	Primary familial hypertrophic cardiomyopathy Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs763170019 RCV000845434 RCV000465119 RCV001770347	185	S>missing	Primary familial dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
CA5716366 RCV002350334 rs766766600 RCV000560485 RCV002466531	186	A>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1847161579 RCV001256784	190	S>missing	Dilated cardiomyopathy 1A [ClinVar]	Yes	ClinVar dbSNP
rs201487919 RCV001034985 RCV003145255 CA5716369	192	G>C	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs201487919 RCV000536384 CA5716368 RCV001764589 RCV002350335	192	G>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs752722473 CA5716370 RCV000648830	193	R>K	Variant assessed as Somatic; 0.0 impact. Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD
RCV000298402 rs556000090 RCV002356375 CA5716378 RCV001216071	202	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001384911 rs1554877224 RCV002356687 RCV000467242	203	R>missing	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
rs1057524225 RCV000420398 RCV001851078 CA16605610 RCV002356620	203	R>Q	Variant assessed as Somatic; 0.0 impact. Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD
rs1047671466 RCV001236944 CA378295429 RCV002357014 COSM1504356	203	R>W	lung Variant assessed as Somatic; 0.0 impact. stomach Myofibrillar myopathy 6 [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD
RCV000226073 RCV001104558 rs199700646 RCV000443578 RCV001107313 RCV000852427 CA5716383 RCV000617486	206	I>L	Cardiomyopathy Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001034876 rs1847163339	208	I>T	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000648847 RCV002362566 RCV000006347 CA308228 rs121918312 VAR_063089 RCV000183317 RCV001836702	209	P>L	Peripheral neuropathy Myofibrillar myopathy 6 MFM6; interferes with the differentiation of skeletal muscle cells; does not cause functional alterations in cardiomyocyte cells [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV001849971 RCV000144684 CA170913 rs121918312	209	P>Q	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001836898 RCV000813879 RCV001507780 CA378295459 rs1589630141	209	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA378295476 RCV002530586 RCV000735844 rs752772180	212	H>N	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV001107314 CA378295483 rs1311591078 RCV001107315 RCV002556099	213	E>K	Variant assessed as Somatic; 0.0 impact. Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar NCI-TCGA dbSNP gnomAD
rs138078305 RCV000801340 CA5716388	215	N>K	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA5716389 rs148282376 RCV001221536	216	V>I	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV000023351 rs1589630173	218	R>missing	Dilated cardiomyopathy 1HH [ClinVar]	Yes	ClinVar dbSNP
RCV000172520 RCV000623668 RCV000243434 RCV000155787 RCV001080888 CA183490 rs201638005	218	R>Q	Left ventricular noncompaction Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA261129 RCV003144117 RCV000171829 RCV000617935 RCV000032660 RCV000648836 VAR_066781 rs397514506	218	R>W	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 Familial isolated arrhythmogenic right ventricular dysplasia CMD1HH; interferes with the assembly of Z-disks; increases stress-induced apoptosis [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
CA5716390 RCV001207297 rs754615028	223	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002363039 RCV000469004 rs754615028 RCV000208205 CA077630	223	P>R	Primary familial hypertrophic cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1135402750 RCV000496997	224	S>missing	Dilated cardiomyopathy 1HH [ClinVar]	Yes	ClinVar dbSNP
RCV000244314 RCV000685071 CA5716393 RCV000426389 rs149517238	227	Q>E	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000537424 CA5716394 rs747454279	231	T>M	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs746241240 CA5716397 RCV001039096	232	H>P	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs876661342 RCV000463650 CA10581154 RCV000223884 RCV002372238	233	Y>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV002360753 RCV001568137 RCV000693263 rs1415830597 CA378295613	233	Y>C	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1589630230 RCV000810863 CA378295637	237	Q>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV003163708 RCV001545820 CA214221891 rs148544471 RCV001221911	239	E>K	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP TOPMed dbSNP gnomAD
rs876657634 RCV000689286 CA10576778 RCV000215570	244	Q>*	Primary dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA5716404 rs766444344 RCV001055784	246	V>A	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP
CA308245 RCV002381602 RCV000183325 RCV000648842 rs369947845	248	H>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs1847165958 RCV001203716	251	Q>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV002393331 rs1564774668 CA378295763 RCV001068892	255	W>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs765142940 RCV001046716 CA5716406	257	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs746551805 RCV000648845 CA5716408	258	R>Q	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs117671123 RCV001081302 RCV001107316 CA135025 RCV000490529 RCV000032662 RCV000590218 VAR_066782 RCV000037897 RCV000618102	258	R>W	Dilated cardiomyopathy 1HH Myofibrillar myopathy Myofibrillar myopathy 6 no functional consequences [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA5716409 rs757710876 RCV000804752	259	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001317189 CA378295792 rs746454994 RCV002412019	261	R>P	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001242514 rs746454994 COSM915382 RCV002411894 CA5716410 RCV001564949	261	R>Q	Variant assessed as Somatic; 0.0 impact. endometrium Myofibrillar myopathy 6 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000150180 COSM1195203 rs548032105 RCV002408661 RCV001349003 CA175297	261	R>W	lung oesophagus Myofibrillar myopathy 6 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
CA10581155 RCV000223716 RCV000464394 rs876661343 RCV002408942 RCV000766537	262	A>T	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000525923 RCV000247776 CA135031 rs397516883 RCV000788989 RCV000037899 RCV001256783	262	A>V	Myofibrillar myopathy 6 Dilated cardiomyopathy 1A [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001232583 RCV000423538 rs1057523599 CA16605990	263	A>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA5716413 RCV000462695 rs769034041 RCV001729603	265	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs761965592 RCV001364263 CA5716415 RCV000624419	268	S>P	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1589630345 RCV001305324	272	G>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000037900 RCV002426563 RCV000172521 RCV001088222 rs143919208 CA135034	274	S>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs372970842 CA5716418 RCV000690953 RCV001193221 RCV002406556	276	R>Q	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA5716417 RCV001580096 RCV000223628 rs759573189 RCV001297096	276	R>W	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs751261054 RCV000490546 RCV000623524 CA214222103	279	S>*	Primary familial dilated cardiomyopathy [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
RCV000480680 RCV002438184 RCV001851255 RCV001107317 rs751261054 RCV001107967 CA5716422	279	S>L	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP
RCV001308974 rs1847167969 RCV002447319	282	R>G	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
rs375650805 COSM73802 CA5716424 RCV002447208 RCV001244497 RCV003145480	285	T>M	ovary Variant assessed as Somatic; 0.0 impact. Myofibrillar myopathy 6 [Cosmic, NCI-TCGA, ClinVar]	Yes	ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000413342 RCV001040522 rs1057518511	287	L>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000822800 RCV000037902 rs368866313 RCV000726747 CA135040 RCV002470734	291	S>L	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5716429 rs144585878 RCV001306841 RCV002375381 COSM271738	294	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine Myofibrillar myopathy 6 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD
RCV001048342 RCV000429285 CA5716430 rs151335530 RCV002446705 COSM915384 RCV000853121	294	R>H	Variant assessed as Somatic; 0.0 impact. endometrium Primary dilated cardiomyopathy Myofibrillar myopathy 6 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV001062183 rs139399890	296	H>Q	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
CA378296079 rs1268848002 RCV000817264	296	H>Y	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs150048651 CA243297 RCV000233577 RCV000249859 RCV000177195	298	V>M	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000241816 RCV000587296 RCV000361455 RCV000183312 rs78439745 VAR_066783 RCV000323124 CA308215 RCV001084067	300	D>N	Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001048412 CA5716450 rs554147128	306	M>T	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
RCV002057163 RCV002372225 RCV000623366 RCV000459684 RCV000215224 CA10576779 RCV000414723 rs869248137	309	R>*	Primary dilated cardiomyopathy Primary familial dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs774137001 RCV002530091 CA5716451 RCV000539291	309	R>Q	Variant assessed as Somatic; 0.0 impact. Myofibrillar myopathy 6 Inborn genetic diseases [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA16612746 rs1060502818 RCV000473401	315	S>F	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA5716452 rs761417402 RCV001359908 RCV000425070	315	S>T	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001550024 RCV001042302 rs1847236072	316	Q>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001035095 rs1246603543 RCV002445205 CA378296320 RCV001823752	316	Q>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs376832654 RCV000183320 RCV000459569 RCV002372122 CA308236	321	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs765875627 CA5716455 RCV000648843	323	S>G	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002374791 RCV000458815 RCV003144270 CA5716456 rs754387872	323	S>N	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1589632398 RCV002536165 RCV000845412	324	K>missing	Primary familial dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001059140 rs1847236575 RCV001594407	325	P>missing	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001351781 rs1847236737	327	P>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
CA5716458 RCV003144396 RCV001361374 RCV000618477 rs765627299	328	V>A	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1847237047 RCV001352022	330	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
CA5716460 RCV003144619 rs762376423 RCV000801949	330	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA378296426 RCV000519271 rs1393181351 RCV001858016	333	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA5716465 RCV000815195 rs768613403 RCV002381826 RCV001570989	343	R>C	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001759932 CA5716466 RCV001035361 rs774085746 RCV002382265	343	R>H	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA378296491 RCV002383943 RCV002524021 RCV000494057 rs774085746	343	R>P	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1847237761 RCV001241034	344	K>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001861562 rs1057522401 RCV002393006 CA16605822 RCV000430071	345	E>D	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA5716470 RCV002393713 RCV001300967 rs189646603	345	E>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD
rs1847238300 RCV001230872	353	Q>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
rs764432849 RCV001057655 CA5716477	353	Q>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV002411884 rs1227175290 CA378296568 RCV001239848	355	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV002411613 RCV001070021 rs761188869 CA214224856	355	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000156562 RCV000476824 rs727505109	356	P>missing	Primary dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001306305 rs1060504722	361	K>N	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
CA378296630 RCV001060003 RCV003150382 rs1215731985	366	V>L	Cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA237055 RCV000171879 rs786205347 RCV001206086	367	P>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000648841 rs876657745 CA378296668	373	C>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs876657745 RCV000214504 CA10576780 RCV002433933 RCV000788870 RCV001853432 RCV000622634	373	C>Y	Primary familial dilated cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
RCV000852642 CA175304 RCV000988455 rs144692954 RCV000621769 RCV000150183 RCV000437120 RCV001084049 VAR_066784	380	P>S	Atrial fibrillation Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA378296736 RCV000648825 rs1554877763	386	S>A	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs756178548 CA5716499 RCV000619962 RCV001069805	386	S>Y	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
COSM3382694 rs1060502816 CA16612936 RCV000456697	387	P>L	pancreas Myofibrillar myopathy 6 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar TOPMed dbSNP gnomAD
rs780162994 CA5716500 RCV001312337	387	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000540680 rs1554877765	388	K>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
CA308218 RCV000809761 rs140251789 RCV002326989 RCV000183313	389	S>N	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1421913723 CA378296762 RCV000648833	390	V>A	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
CA5716506 RCV001043676 rs111787446	395	R>K	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1060502817 RCV000466211 CA16612849	400	T>I	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001325430 rs1416464425 CA378296848	405	A>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000685797 RCV000384809 CA5716509 RCV000292728 rs11199064 RCV001507782 RCV002356411 VAR_048346	405	A>V	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD
CA175307 RCV002354340 RCV000150184 RCV001850035 rs727502900	406	T>I	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV001516881 CA282455 rs3858340 RCV000037885 RCV000588620 RCV000254249 VAR_048347 RCV000331449 RCV000576368	407	P>L	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs750627409 RCV001043164 CA5716515	411	G>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs761727804 RCV002365647 RCV001696901 RCV000457258	411	G>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
CA16613029 rs117749531 RCV000458004	414	E>*	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001219694 rs1847243505	414	E>D	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
rs117749531 RCV000296394 RCV000836269 RCV000150185 CA175310 RCV000335067 RCV002381463 RCV001081810	414	E>K	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs1847243574 RCV001207147	415	A>D	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000811235 rs1248733449 RCV002381804 CA378296904	415	A>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs751558069 RCV001247599 CA5716520	417	P>Q	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1589632706 CA378296915 RCV000793693	417	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV001248544 rs886039025 RCV000246119 CA10587695	421	G>E	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1847244354 RCV001306397	429	L>P	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
CA5716528 RCV000621843 rs774713887 RCV000234643	430	E>K	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA378296999 RCV001773701 RCV002384489 RCV001350238 rs1374652846	431	K>E	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV000252646 rs886039182 RCV001859469	432	V>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
CA346200 rs730880055 RCV000157122	433	Q>*	Primary dilated cardiomyopathy [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs886046755 RCV000398966 RCV002522141 RCV000338047 CA10634766	433	Q>R	Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
rs1847245034 RCV002379576 RCV001059035	436	E>G	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001756207 CA214225133 rs1031608025 RCV000695820	438	A>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
CA10582710 RCV000227367 RCV002271477 RCV002378995 rs878854652	440	D>N	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001104656 RCV001050142 RCV001104657 RCV000171881 rs201181493 CA237061 RCV002381557	441	N>D	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001212978 CA378297068 rs1325704409	441	N>K	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP ClinGen TOPMed gnomAD
CA16612754 rs1060502815 RCV000474654 RCV001851120	449	K>*	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
RCV000648834 rs372417286 CA378297161	454	I>M	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000230332 VAR_066785 RCV002381307 CA135016 RCV000037887 RCV000255835 rs397516881	455	E>K	Variant assessed as Somatic; impact. Primary dilated cardiomyopathy Myofibrillar myopathy 6 CMD1HH [NCI-TCGA, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP
CA378297178 rs1470778691 RCV001227135	457	Y>H	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs397514507 CA261131 RCV000032661 RCV000437344 VAR_066786	462	L>P	Dilated cardiomyopathy 1HH CMD1HH; interferes with the assembly of Z-disks; increases stress-induced apoptosis [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000706616 rs1564776841 CA378297232	465	L>P	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs1564776847 CA378297236 RCV000685175	466	D>N	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_066787	468	V>M	CMD1HH [UniProt]	Yes	UniProt
rs756020699 RCV001046418	470	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
rs778496291 RCV000617828 RCV003144397 CA5716543 RCV000686010	471	E>K	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1847246944 RCV001324751	472	G>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV000760914 rs199682693 RCV001056928 RCV001256782 CA378297277	473	R>*	Myofibrillar myopathy 6 Dilated cardiomyopathy 1A [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1589632876 RCV000790476	474	A>missing	Dilated cardiomyopathy 1HH [ClinVar]	Yes	ClinVar dbSNP
rs138832242 RCV000234318 RCV002392699 RCV000600309 CA5716548	475	D>N	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA5716551 RCV002395733 RCV001332399 COSM1638456 rs775645671	477	R>C	Variant assessed as Somatic; 0.0 impact. stomach Myofibrillar myopathy 6 [NCI-TCGA, Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD
VAR_065480 CA259793 rs387906876 RCV001065815 RCV000023352	477	R>H	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 CMD1HH [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000212104 RCV001086329 RCV000302861 RCV000172522 RCV000359990 CA302591 rs34656239 RCV002390416	479	A>V	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV000809395 rs570294713 CA5716554 RCV000604718 RCV003150308	483	G>S	Variant assessed as Somatic; 0.0 impact. Cardiomyopathy Myofibrillar myopathy 6 [NCI-TCGA, ClinVar]	Yes	ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD
RCV000648844 rs1405717595 CA378297451	499	I>T	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA378297467 RCV000788924 RCV002535795 rs1564776954	502	P>A	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
rs747583925 RCV002388328 RCV001759405 CA5716561 RCV000852428 RCV000703660	508	Y>C	Hypertrophic cardiomyopathy Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV001242441 RCV002393627 rs771188059 CA5716562	510	L>F	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA5716565 rs770086669 RCV002064858	512	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs1564776999 CA378297549 RCV002397420 RCV001766502 RCV000695534	514	N>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
RCV000692889 CA5716570 RCV003222102 rs760699965	520	P>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
CA5716575 RCV000271122 RCV002520540 rs752390475 RCV000363363	524	I>T	Myofibrillar Myopathy, Dominant Dilated Cardiomyopathy, Dominant Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs764925485 RCV003145597 RCV001346593 COSM1745665 CA5716574	524	I>V	urinary_tract Myofibrillar myopathy 6 [Cosmic, ClinVar]	Yes	ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD
rs777325497 RCV000554070 CA5716577	526	E>D	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5716578 RCV002402842 RCV001302547 rs752007619	528	G>R	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs369690617 RCV000203813 CA348092	529	A>G	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000367822 RCV000329418 RCV000150187 RCV001582620 CA175316 rs144678100 RCV000469156 RCV000618030	530	V>M	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV000695411 CA378297667 rs749576988	533	D>E	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV000457841 rs774573497 CA5716583	541	N>K	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5716584 RCV001806138 RCV002404814 rs760485616 RCV001346234	542	A>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
rs770920565 RCV002402776 CA5716585 RCV001310579 RCV001243983	542	A>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000648837 CA235821 RCV000171190 rs786205466	544	D>H	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA16618936 RCV002404272 RCV001865493 RCV000479102 rs786205466	544	D>N	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs759348679 RCV000423745 RCV000332813 RCV000853141 RCV000461611 RCV000275438 CA5716587 RCV002402013	545	P>R	Primary dilated cardiomyopathy Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
rs1057523768 RCV000430969 CA16605992 RCV001851067	547	T>P	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1335289497 CA378297761 RCV000696013	548	E>Q	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001002800 RCV002391073 CA214225425 rs577455773 RCV001724207	551	Q>K	Dilated cardiomyopathy 1HH [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001442057 CA5716591 VAR_066788 RCV000618989 rs763530097	553	E>D	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
rs1322157514 RCV001305801 CA378297809	555	T>K	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP gnomAD
RCV001230351 rs1273311196 RCV001580024	556	A>missing	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001753762 RCV000279175 RCV000389892 RCV001850577 CA10628100 rs886046756	556	A>E	Dilated cardiomyopathy 1HH Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar TOPMed dbSNP
rs1847253063 RCV001219195	557	A>T	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinVar dbSNP
RCV001210448 RCV003145385 rs185537639 CA5716592	558	A>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
RCV001341235 CA378297852 rs1188545828	562	P>L	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs756485989 CA5716595 RCV000796552	565	M>V	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar ExAC dbSNP gnomAD
RCV002397401 rs1407009048 CA378297891 RCV000692627	568	T>A	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
rs1407009048 CA378297890 RCV001350956	568	T>P	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar dbSNP gnomAD
CA378297895 rs1564777190 RCV000805312	568	T>S	Myofibrillar myopathy 6 [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
CA378293972 rs1396002893	2	S>N		No	ClinGen gnomAD
rs956429406 CA214208015	3	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA5716203 rs745806982	6	H>Q		No	ClinGen ExAC gnomAD
rs1473083093 CA378294003 RCV000760907	7	S>*		No	ClinGen ClinVar TOPMed dbSNP gnomAD
CA378294002 rs1308142179	7	S>P		No	ClinGen gnomAD
CA5716204 rs779929078	10	M>V		No	ClinGen ExAC gnomAD
TCGA novel	11	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1468932645 CA378294028	11	Q>K		No	ClinGen TOPMed gnomAD
TCGA novel	12	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378294042 rs1479607977	13	A>P		No	ClinGen gnomAD
rs768378511 CA5716206	15	G>S		No	ClinGen ExAC gnomAD
rs866659159 CA214208054	18	D>E		No	ClinGen Ensembl
CA378294074 rs1419611154	18	D>G		No	ClinGen gnomAD
CA175279 rs727502896 RCV000150173	19	R>S		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA378294091 rs1327618290	21	P>A		No	ClinGen gnomAD
rs1589619881 CA378294095	21	P>L		No	ClinGen Ensembl
rs771609568 CA5716209	24	P>R		No	ClinGen ExAC TOPMed gnomAD
rs727502897	25	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs142391650 CA378294116	25	G>E	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP NCI-TCGA TOPMed gnomAD
rs727502897	25	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	NCI-TCGA
rs142391650 CA214208083	25	G>V		No	ClinGen ESP TOPMed gnomAD
CA5716211 rs535344112	26	W>*		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA378294133 rs1357331177	27	E>D		No	ClinGen gnomAD
CA378294147 COSM915379 rs1275104991	29	K>N	endometrium [Cosmic]	No	ClinGen cosmic curated TOPMed
rs759915726 CA378294167	32	P>L		No	ClinGen ExAC TOPMed
rs759915726 CA5716214	32	P>Q		No	ClinGen ExAC TOPMed
CA378294179 rs1387616851	34	T>I		No	ClinGen TOPMed
rs200072558 CA5716217	35	G>S		No	ClinGen 1000Genomes ExAC gnomAD
CA5716219 rs751595824	37	P>L		No	ClinGen ExAC gnomAD
CA5716220 rs727504929	38	F>L		No	ClinGen ExAC TOPMed gnomAD
rs1472915271 CA378294211	39	F>S		No	ClinGen gnomAD
rs1167031491 CA378294221	41	D>N		No	ClinGen gnomAD
CA378294231 rs1190851372	42	H>Y		No	ClinGen TOPMed
rs537615906 CA5716221	43	N>D		No	ClinGen 1000Genomes ExAC gnomAD
CA5716223 rs201329879	43	N>S		No	ClinGen ExAC gnomAD
rs201329879 CA5716222	43	N>T		No	ClinGen ExAC gnomAD
rs1375407626 CA378294243	44	S>G		No	ClinGen gnomAD
rs1433180290 CA378294245	44	S>N		No	ClinGen gnomAD
rs747820097 CA378294251	45	R>G		No	ClinGen ExAC TOPMed gnomAD
rs1349893372 CA378294257	46	T>I		No	ClinGen gnomAD
CA5716226 rs771633629	46	T>S		No	ClinGen ExAC gnomAD
rs1268686377 CA378294264	47	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1229267488 CA378294269	48	T>M		No	ClinGen TOPMed gnomAD
CA5716229 rs771379373	51	D>E		No	ClinGen ExAC gnomAD
CA5716228 rs746527768	51	D>N		No	ClinGen ExAC TOPMed gnomAD
CA378294287 rs746527768	51	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA378294301 rs1200161844	53	R>C		No	ClinGen gnomAD
rs1277623691 CA378294316	55	P>L		No	ClinGen TOPMed gnomAD
rs1282194323 CA378294313	55	P>S		No	ClinGen gnomAD
rs777100532 CA378294320	56	S>F		No	ClinGen ExAC TOPMed gnomAD
CA5716230 rs777100532	56	S>Y		No	ClinGen ExAC TOPMed gnomAD
rs1240026628 CA378294321	57	E>K		No	ClinGen gnomAD
CA378294332 rs138785335	58	G>D		No	ClinGen ESP ExAC TOPMed
rs763170023 CA5716234	59	P>H		No	ClinGen ExAC gnomAD
rs996577451 CA214219646	61	E>D		No	ClinGen Ensembl
rs1589628699 CA378294604	62	T>P		No	ClinGen Ensembl
rs796599978 CA214219666	65	S>F		No	ClinGen Ensembl
CA5716262 rs745416075	66	A>P		No	ClinGen ExAC gnomAD
rs572036022 CA5716264	67	N>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA5716265 rs749844576	68	G>R		No	ClinGen ExAC gnomAD
CA5716266 rs749844576	68	G>S		No	ClinGen ExAC gnomAD
CA214219689 rs1022153640	73	G>D		No	ClinGen TOPMed
rs773383623 CA5716268	74	S>C		No	ClinGen ExAC gnomAD
rs760856949 CA5716270	75	R>M		No	ClinGen ExAC gnomAD
rs760856949 CA5716269	75	R>T		No	ClinGen ExAC gnomAD
rs1324374464 CA378294688	78	P>S		No	ClinGen gnomAD
CA5716271 rs763782077	79	A>T		No	ClinGen ExAC gnomAD
CA214219705 rs550014639	82	G>S		No	ClinGen 1000Genomes
rs756864793 CA378294725	84	P>A		No	ClinGen ExAC gnomAD
TCGA novel	84	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs756864793 CA5716272	84	P>S		No	ClinGen ExAC gnomAD
rs767179657 CA5716273	85	V>A		No	ClinGen ExAC gnomAD
rs770184307 CA214219714	85	V>M		No	ClinGen gnomAD
rs755593480 CA5716275	86	Y>H		No	ClinGen ExAC gnomAD
rs1190622666 CA378294742	87	P>S		No	ClinGen gnomAD
rs779686349 CA5716276	88	Q>H		No	ClinGen ExAC gnomAD
rs1236900746 CA378294756	89	L>H		No	ClinGen TOPMed
CA5716278 rs755525021	90	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA5716280 rs748551828	92	G>D		No	ClinGen ExAC gnomAD
rs371026669 CA5716279	92	G>R		No	ClinGen ESP ExAC TOPMed
rs960439911 CA214219742	93	Y>H		No	ClinGen TOPMed gnomAD
rs869025364 CA378294786	95	P>H		No	ClinGen gnomAD
CA5716281 rs727502898	95	P>S		No	ClinGen ExAC gnomAD
CA378294788 rs1299147536	96	I>L		No	ClinGen gnomAD
rs747274078 CA5716283	97	P>A		No	ClinGen ExAC TOPMed gnomAD
CA378294807 rs1589628805	99	L>F		No	ClinGen Ensembl
rs1234192838 CA378294813	100	H>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs776827876 CA5716284	101	E>G		No	ClinGen ExAC TOPMed gnomAD
rs762739256 CA5716285	102	G>S		No	ClinGen ExAC gnomAD
CA5716287 rs774085716	103	A>T		No	ClinGen ExAC TOPMed gnomAD
CA378294849 rs1485004397	105	N>I		No	ClinGen gnomAD
CA5716292 rs535062329	107	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
RCV000493874 CA5716291 rs760437650	107	Q>P		No	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA5716294 rs779493926	108	V>G		No	ClinGen ExAC gnomAD
rs753302310 CA5716295	109	H>D		No	ClinGen ExAC TOPMed gnomAD
CA5716297 rs374304325	110	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
CA5716298 rs749587347	110	P>R		No	ClinGen ExAC gnomAD
rs374304325 CA378294870	110	P>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs374304325 CA5716296	110	P>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA5716299 rs771196620	112	H>R		No	ClinGen ExAC gnomAD
rs1347293457 CA378294892	113	V>G		No	ClinGen TOPMed
RCV000788363 rs1589628864	114	Y>missing		No	ClinVar dbSNP
CA5716302 RCV000788523 rs769813479	114	Y>C		No	ClinGen ClinVar ExAC dbSNP gnomAD
CA5716305 rs771845503	117	P>L		No	ClinGen ExAC gnomAD
rs771845503 CA214219969	117	P>R		No	ClinGen ExAC gnomAD
RCV000478015 rs1554877037	118	G>missing		No	ClinVar dbSNP
CA378294924 rs1334163509	119	M>V		No	ClinGen gnomAD
rs868536836 CA214220007	128	A>E		No	ClinGen Ensembl
rs753251276 CA5716310	130	A>D		No	ClinGen ExAC gnomAD
CA378294992 rs1460426497	130	A>S		No	ClinGen gnomAD
rs140672627 CA5716311	131	P>A		No	ClinGen ESP ExAC TOPMed gnomAD
rs781456794 CA378295036	137	P>L		No	ClinGen ExAC TOPMed gnomAD
rs769913236 CA5716315	139	R>Q		No	ClinGen ExAC gnomAD
CA5716317 rs748025281	140	G>D		No	ClinGen ExAC TOPMed gnomAD
CA378295061 rs1322471565	142	P>S		No	ClinGen gnomAD
rs772004889 CA378295066	143	E>*		No	ClinGen ExAC gnomAD
rs772004889 CA5716318	143	E>K		No	ClinGen ExAC gnomAD
rs772004889 CA378295065	143	E>Q		No	ClinGen ExAC gnomAD
rs774506265 CA214220089	144	T>A		No	ClinGen TOPMed gnomAD
TCGA novel	151	C>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5716320 rs770678896	151	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs1460374322 CA378295130	152	G>E		No	ClinGen TOPMed
CA378295135 rs1474660052	153	Q>*		No	ClinGen gnomAD
CA5716321 rs776312256	153	Q>H		No	ClinGen ExAC gnomAD
CA378295148 rs1369277206	155	A>V		No	ClinGen gnomAD
CA5716326 rs757610303	157	A>P		No	ClinGen ExAC gnomAD
TCGA novel	157	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378295163 rs1214063551	159	A>T		No	ClinGen TOPMed gnomAD
rs780046962 CA5716329	160	A>V		No	ClinGen ExAC gnomAD
RCV000244257 rs886039044 CA10587694	161	Q>*		No	ClinGen ClinVar Ensembl dbSNP
CA378295176 rs1338639352	161	Q>R		No	ClinGen TOPMed gnomAD
rs937292596 CA214220291	168	P>L		No	ClinGen TOPMed
CA5716358 rs200479768	170	R>G		No	ClinGen ExAC TOPMed gnomAD
CA378295238 rs140904592	170	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000183316 CA308225 rs794728978	171	S>F		No	ClinGen ClinVar Ensembl dbSNP
rs773750158 CA5716362	173	S>C		No	ClinGen ExAC gnomAD
rs1434276928 CA378295262	174	P>L		No	ClinGen gnomAD
rs1365920672 CA378295264	175	A>P		No	ClinGen TOPMed
rs1420081154 CA378295275	177	S>P		No	ClinGen gnomAD
rs762317370 CA5716363	179	C>Y		No	ClinGen ExAC gnomAD
rs1265861420 CA378295309	182	S>P		No	ClinGen gnomAD
CA378295318 rs1208839168	183	S>F		No	ClinGen gnomAD
rs772491154 CA5716365	183	S>P		No	ClinGen ExAC gnomAD
CA378295324 rs1450366653	184	S>F		No	ClinGen gnomAD
TCGA novel	184	S>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1414505890 CA378295340	187	S>I		No	ClinGen gnomAD
rs1057523462 RCV000437735 CA16606637	190	S>F		No	ClinGen ClinVar Ensembl dbSNP
rs752722473 CA378295371	193	R>M		No	ClinGen ExAC gnomAD
rs1064795700 RCV000480131	194	S>missing		No	ClinVar dbSNP
TCGA novel	194	S>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs927441881 CA214221693	194	S>R		No	ClinGen Ensembl
rs528288616 CA5716371	195	S>G		No	ClinGen ExAC gnomAD
CA5716372 rs536117098	195	S>N		No	ClinGen 1000Genomes ExAC gnomAD
rs1051673569 CA214221700	196	L>V		No	ClinGen TOPMed
rs755969300 CA5716374	197	G>D		No	ClinGen ExAC TOPMed gnomAD
rs750426195 CA5716373	197	G>S		No	ClinGen ExAC TOPMed gnomAD
rs780054019 CA5716375	199	H>Y		No	ClinGen ExAC gnomAD
rs768201611 CA5716377	200	Q>H		No	ClinGen ExAC TOPMed gnomAD
rs1212097826 CA378295414	200	Q>P		No	ClinGen TOPMed gnomAD
CA214221721 rs1038821617	201	L>P		No	ClinGen TOPMed
rs1038821617 CA378295422	201	L>R		No	ClinGen TOPMed
rs1057524225 CA378295430	203	R>P		No	ClinGen TOPMed gnomAD
CA378295432 rs1187185992	204	G>R		No	ClinGen gnomAD
CA5716380 rs773557969	204	G>V		No	ClinGen ExAC gnomAD
CA378295437 rs755456690	205	Y>D		No	ClinGen ExAC TOPMed gnomAD
rs141497285 CA5716382	205	Y>F		No	ClinGen ESP ExAC TOPMed
CA5716381 rs755456690	205	Y>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	205	Y>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
RCV000171877 rs199700646 CA237049	206	I>V		No	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
rs759686856 CA5716384	207	S>F		No	ClinGen ExAC TOPMed gnomAD
CA378295454 rs1008797667	208	I>F		No	ClinGen TOPMed gnomAD
CA214221754 rs1008797667	208	I>L		No	ClinGen TOPMed gnomAD
rs1008797667 CA378295453	208	I>V		No	ClinGen TOPMed gnomAD
CA378295482 rs150379892	212	H>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA5716386 rs752772180	212	H>Y		No	ClinGen ExAC gnomAD
RCV000171878 rs148282376 CA237052	216	V>F		No	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
rs1285251667 CA378295515	217	T>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs1589630168 CA378295510	217	T>P		No	ClinGen Ensembl
CA378295517 rs201638005	218	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs1483153986 CA378295544	222	Q>H		No	ClinGen gnomAD
RCV000521462 CA378295567 rs1554877252	226	H>R		No	ClinGen ClinVar Ensembl dbSNP
rs988869978 CA214221830	228	A>G		No	ClinGen Ensembl
CA214221835 rs1024582658	230	K>R		No	ClinGen Ensembl
RCV000218411 rs746241240 CA10576777	232	H>L		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs1021293076 CA214221874	234	P>S		No	ClinGen TOPMed
CA5716398 rs371731106	235	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs927469856 CA214221883	236	Q>R		No	ClinGen Ensembl
rs369377620 CA378295639 CA214221886	237	Q>H		No	ClinGen gnomAD
RCV001268361 rs148544471	239	E>*		No	ClinVar dbSNP
TCGA novel	239	E>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	240	Y>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378295665 rs1399643904	241	Q>R		No	ClinGen gnomAD
rs764023919 CA378295669	242	T>A		No	ClinGen ExAC TOPMed gnomAD
CA5716401 rs764023919	242	T>P		No	ClinGen ExAC TOPMed gnomAD
CA5716402 rs764023919	242	T>S		No	ClinGen ExAC TOPMed gnomAD
CA5716403 rs760652680	243	H>P		No	ClinGen ExAC gnomAD
CA378295688 rs1564774642	245	P>A		No	ClinGen Ensembl
rs753879943 CA5716405	248	H>D		No	ClinGen ExAC gnomAD
CA378295707 rs753879943	248	H>Y		No	ClinGen ExAC gnomAD
rs1300461267 CA378295722	250	I>F		No	ClinGen gnomAD
CA378295727 rs1343231277	251	Q>*		No	ClinGen gnomAD
CA378295735 rs1181564932	252	G>R		No	ClinGen gnomAD
CA214221961 rs375687199	259	P>S		No	ClinGen ESP TOPMed gnomAD
TCGA novel	259	P>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5716412 rs749406496	263	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA378295856 rs1589630345	272	G>D		No	ClinGen Ensembl
rs762471704 CA5716420	277	E>V		No	ClinGen ExAC gnomAD
CA5716421 rs200232102	278	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA378295899 rs1210697765	280	P>S		No	ClinGen TOPMed gnomAD
rs1248777510 CA378295904	281	A>T		No	ClinGen TOPMed gnomAD
rs868224153 CA214222113	284	S>G		No	ClinGen TOPMed gnomAD
CA378295930 rs868224153	284	S>R		No	ClinGen TOPMed gnomAD
rs1199609493 CA378295976	287	L>P		No	ClinGen gnomAD
CA5716426 rs780242996	288	H>L		No	ClinGen ExAC gnomAD
rs1564774772 CA378296004	289	S>F		No	ClinGen Ensembl
rs1160709384 CA378295998	289	S>P		No	ClinGen gnomAD
rs1482352311 CA378296012	290	P>H		No	ClinGen gnomAD
CA378296010 rs1457834767	290	P>S		No	ClinGen gnomAD
TCGA novel	292	P>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM915383 rs748451757 CA5716428	292	P>L	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA308230 rs144585878 RCV000183318	294	R>S		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
rs1301396962 CA378296065	295	V>M		No	ClinGen TOPMed
rs1847169064 RCV001268884	297	T>missing		No	ClinVar dbSNP
rs794728979 CA308233 RCV000183319	297	T>A		No	ClinGen ClinVar Ensembl dbSNP
rs1489316347 CA378296122	299	V>D		No	ClinGen gnomAD
rs1589630457 CA378296144	301	R>G		No	ClinGen Ensembl
rs199677021 CA5716434	302	P>A		No	ClinGen 1000Genomes ExAC
rs201416791 CA214222209	302	P>L		No	ClinGen 1000Genomes gnomAD
rs1554877302 CA378296178 RCV000519208	303	Q>H		No	ClinGen ClinVar Ensembl dbSNP
CA378296166 rs1183981489	303	Q>K		No	ClinGen gnomAD
CA378296257 rs1432019724	306	M>V		No	ClinGen TOPMed gnomAD
TCGA novel	307	T>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378296273 rs1259507849	308	H>R		No	ClinGen TOPMed
rs1178679842 CA378296299	312	A>V		No	ClinGen TOPMed
rs1446149072 CA378296304	313	P>R		No	ClinGen gnomAD
CA5716453 rs767223665	319	N>K		No	ClinGen ExAC gnomAD
CA378296357 rs1273513848	321	P>L		No	ClinGen gnomAD
CA378296360 rs1441454058	322	E>*		No	ClinGen gnomAD
CA5716454 rs760204588	322	E>G		No	ClinGen ExAC gnomAD
CA378296375 rs1468493080	324	K>M		No	ClinGen TOPMed
rs755551045 CA5716457	325	P>Q		No	ClinGen ExAC gnomAD
CA378296389 rs1402686115	326	G>V		No	ClinGen TOPMed
rs765627299 CA378296400	328	V>G		No	ClinGen ExAC gnomAD
rs1246759319 CA378296396	328	V>I		No	ClinGen gnomAD
CA214224738 rs924784178	329	G>E		No	ClinGen TOPMed
rs778032274 CA5716461	332	L>I		No	ClinGen ExAC gnomAD
rs1406838733 CA378296453	337	I>N		No	ClinGen gnomAD
rs1319754171 CA378296459	338	P>S		No	ClinGen TOPMed gnomAD
rs757353917 CA378296463	339	I>F		No	ClinGen ExAC gnomAD
rs757353917 CA5716462 RCV000221447	339	I>V		No	ClinGen ClinVar ExAC dbSNP gnomAD
rs749156901 CA5716464	342	I>T		No	ClinGen ExAC gnomAD
CA5716467 rs774085746	343	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1554877731 RCV000617169	345	E>missing		No	ClinVar dbSNP
rs917711545 CA214224786	347	D>H		No	ClinGen Ensembl
CA5716471 rs765852720	347	D>V		No	ClinGen ExAC gnomAD
rs1466610966 CA378296529	349	K>I		No	ClinGen gnomAD
CA5716473 rs760078100	350	P>L		No	ClinGen ExAC gnomAD
CA378296548 rs1564776574	352	S>C		No	ClinGen Ensembl
rs1430277589 CA378296544	352	S>P		No	ClinGen gnomAD
rs764432849 CA378296552	353	Q>P		No	ClinGen ExAC TOPMed gnomAD
CA5716479 rs757425256	357	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1039369017 CA214224857	358	P>S		No	ClinGen TOPMed
CA5716480 rs781293342	359	S>P		No	ClinGen ExAC gnomAD
rs1434067304 CA378296597	360	E>D		No	ClinGen gnomAD
COSM915385 CA5716481 rs200812717	362	V>A	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA214224867 rs969171575	362	V>I		No	ClinGen Ensembl
CA378296612 rs1345725468	363	E>A		No	ClinGen TOPMed gnomAD
rs1345725468 CA378296613	363	E>G		No	ClinGen TOPMed gnomAD
rs900834561 CA214224874	363	E>K		No	ClinGen TOPMed
TCGA novel	364	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA214224881 rs570702444	364	V>M		No	ClinGen Ensembl
CA214224884 rs980893520	365	K>Q		No	ClinGen Ensembl
rs778793737 CA5716483	367	P>A		No	ClinGen ExAC gnomAD
CA214224906 rs786205347	367	P>L		No	ClinGen gnomAD
rs778793737 CA378296636	367	P>S		No	ClinGen ExAC gnomAD
rs771891535 CA5716485	368	P>L		No	ClinGen ExAC gnomAD
rs772900053 CA5716486	369	A>P		No	ClinGen ExAC gnomAD
CA378296649 rs1450188487	370	P>A		No	ClinGen gnomAD
rs746602007 CA5716487	370	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1270108291 CA378296660	372	P>A		No	ClinGen gnomAD
CA378296664 rs1441877624	372	P>L		No	ClinGen TOPMed
CA378296676 rs770517568	374	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5716488 rs770517568	374	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	376	P>missing	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1180366101 CA378296685	376	P>S		No	ClinGen gnomAD
CA5716489 rs776229831	378	P>S		No	ClinGen ExAC gnomAD
CA214224945 rs886951707	379	G>S		No	ClinGen TOPMed gnomAD
CA5716490 rs769467386	380	P>L		No	ClinGen ExAC gnomAD
rs542317739 CA5716493	381	S>C		No	ClinGen 1000Genomes ExAC gnomAD
CA5716492 rs763427403	381	S>P		No	ClinGen ExAC gnomAD
rs370667806 CA378296715	382	A>P		No	ClinGen ESP TOPMed gnomAD
rs370667806 CA214224952	382	A>T		No	ClinGen ESP TOPMed gnomAD
CA5716496 rs762045933	384	P>L		No	ClinGen ExAC TOPMed gnomAD
CA5716495 rs762045933	384	P>R		No	ClinGen ExAC TOPMed gnomAD
rs1286082290 CA378296728	384	P>S		No	ClinGen TOPMed gnomAD
CA378296740 rs756178548	386	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1554877763 CA378296737	386	S>P		No	ClinGen Ensembl
rs1589632623 CA378296746	388	K>E		No	ClinGen Ensembl
CA378296749 rs1405607704	388	K>R		No	ClinGen TOPMed
rs752618673 CA5716501	389	S>G		No	ClinGen ExAC TOPMed gnomAD
CA5716502 rs777587890	389	S>R		No	ClinGen ExAC gnomAD
rs200242752 CA5716503	391	A>G		No	ClinGen ESP ExAC gnomAD
rs200242752 RCV000171880 CA237058	391	A>V		No	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA5716504 rs770810573	392	T>I		No	ClinGen ExAC
rs770810573 CA378296771	392	T>K		No	ClinGen ExAC
CA5716507 rs769416305	396	A>V		No	ClinGen ExAC
CA214224992 rs766557073	400	T>S		No	ClinGen Ensembl
rs775153939 CA5716508	401	A>G		No	ClinGen ExAC gnomAD
RCV000483188 CA16618935 rs1064796532	401	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ClinVar Ensembl NCI-TCGA dbSNP
CA378296827 rs775153939	401	A>V		No	ClinGen ExAC gnomAD
CA214225012 rs971356997	404	E>G		No	ClinGen TOPMed gnomAD
CA378296842 rs1165453591	404	E>K		No	ClinGen gnomAD
rs11199064 CA5716510	405	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1416464425 CA378296849	405	A>T		No	ClinGen TOPMed gnomAD
CA5716511 rs762050746	408	P>L		No	ClinGen ExAC gnomAD
CA214225034 rs1007681871	408	P>S		No	ClinGen Ensembl
CA378296871 rs1589632687	409	K>N		No	ClinGen Ensembl
CA5716514 rs767934279	410	P>L		No	ClinGen ExAC
CA5716513 rs767934279	410	P>R		No	ClinGen ExAC
CA5716518 rs758309477	416	P>A		No	ClinGen ExAC gnomAD
CA378296908 rs758309477	416	P>S		No	ClinGen ExAC gnomAD
CA5716521 rs751558069	417	P>L		No	ClinGen ExAC TOPMed gnomAD
CA378296916 rs751558069	417	P>R		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	419	H>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1293234013 CA378296927	419	H>Y		No	ClinGen TOPMed gnomAD
CA378296934 rs1253499464	420	P>A		No	ClinGen gnomAD
CA378296937 rs1303615373	420	P>L		No	ClinGen TOPMed
CA378296936 rs1303615373	420	P>Q		No	ClinGen TOPMed
CA5716524 rs371476147	422	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs371476147 CA5716523	422	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
RCV000183323 RCV002310749 rs794728981	423	L>missing		No	ClinVar dbSNP
rs727502901 CA175313 RCV000150186	425	V>E		No	ClinGen ClinVar Ensembl dbSNP
CA378296996 rs1343101135	430	E>D		No	ClinGen TOPMed
CA5716529 rs748744340	430	E>V		No	ClinGen ExAC gnomAD
CA378297006 rs1469879253	432	V>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
rs1454148171 CA378297018 COSM73803	434	G>R	ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA gnomAD
rs1298175480 CA378297049	438	A>V		No	ClinGen gnomAD
rs1265240633 CA378297055	439	V>A		No	ClinGen TOPMed
rs760851766 CA5716531	440	D>A		No	ClinGen ExAC gnomAD
CA214225159 rs956633211	442	F>C		No	ClinGen Ensembl
CA214225163 rs1013419125	443	E>G		No	ClinGen Ensembl
rs776963485 CA5716532	446	K>R		No	ClinGen ExAC gnomAD
CA378297108 rs1464384877	447	T>N		No	ClinGen gnomAD
rs1060502815 CA378297120	449	K>E		No	ClinGen gnomAD
CA5716534 rs765426544	450	K>E		No	ClinGen ExAC gnomAD
rs1197677178 CA378297143	452	L>P	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA378297156 rs1327548703	454	I>V		No	ClinGen TOPMed
rs750264707 CA5716538	469	D>A		No	ClinGen ExAC gnomAD
CA378297259 rs1381722756	469	D>E		No	ClinGen TOPMed
rs779539475 CA5716540	470	P>H		No	ClinGen ExAC
rs756020699 CA5716539	470	P>T		No	ClinGen ExAC TOPMed gnomAD
CA5716544 rs748585181	471	E>G		No	ClinGen ExAC gnomAD
rs199682693 CA5716546	473	R>G		No	ClinGen ExAC gnomAD
CA5716547 rs150156178	473	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA378297285 rs1589632878	474	A>V		No	ClinGen Ensembl
rs759863001 CA5716549	475	D>G		No	ClinGen ExAC gnomAD
CA378297292 rs1208999445	476	V>M		No	ClinGen gnomAD
rs767539919 CA5716553	482	D>E		No	ClinGen ExAC TOPMed gnomAD
CA378297360 rs1241465677	486	K>N		No	ClinGen TOPMed
rs771804811 CA5716555	486	K>R		No	ClinGen ExAC gnomAD
rs1251253467 CA378297384	490	I>T		No	ClinGen TOPMed
CA308239 rs753370524	490	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1362214797 CA378297403	493	K>E		No	ClinGen TOPMed
rs1301674436 CA378297412	494	L>F		No	ClinGen gnomAD
TCGA novel	499	I>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA5716558 rs747683419	500	D>H		No	ClinGen ExAC gnomAD
CA378297460 rs1589632954	501	V>I		No	ClinGen Ensembl
CA5716560 rs778225321	502	P>R		No	ClinGen ExAC gnomAD
CA378297474 rs1435119903	503	G>D		No	ClinGen Ensembl
CA378297480 rs1307861515	504	Q>P		No	ClinGen gnomAD
TCGA novel	505	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs781630937 CA5716563	511	Q>E		No	ClinGen ExAC gnomAD
rs1178407759 CA378297537	513	S>G		No	ClinGen gnomAD
rs1392633322 CA378297560	516	E>Q		No	ClinGen TOPMed
rs1012850083 CA214225324	517	A>S		No	ClinGen TOPMed gnomAD
rs139125612 CA5716569	518	D>E		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA5716568 rs768921901	518	D>N		No	ClinGen ExAC gnomAD
CA5716571 rs766018650	520	P>Q		No	ClinGen ExAC gnomAD
CA378297596 rs1386983591	522	Q>*		No	ClinGen TOPMed
CA5716572 rs753694106	522	Q>L		No	ClinGen ExAC TOPMed gnomAD
rs759058143 CA5716573	523	A>T		No	ClinGen ExAC TOPMed gnomAD
CA378297608 rs764925485	524	I>F		No	ClinGen ExAC TOPMed gnomAD
CA378297617 rs1184174447	525	M>I		No	ClinGen TOPMed
CA5716576 rs757902899	525	M>V		No	ClinGen ExAC gnomAD
CA5716579 rs757788190	528	G>D		No	ClinGen ExAC gnomAD
rs369690617 CA378297643	529	A>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs369690617 CA5716580	529	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1245740174 CA378297654	531	A>V		No	ClinGen TOPMed
CA378297734 rs1335978812	543	E>G		No	ClinGen TOPMed
CA5716586 rs776485015	545	P>A		No	ClinGen ExAC TOPMed gnomAD
rs759348679 CA378297746	545	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776485015 CA214225398	545	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1334550097 CA378297752	546	H>L		No	ClinGen gnomAD
rs1589633082 CA378297747	546	H>N		No	ClinGen Ensembl
rs1589633092 CA378297768	549	T>P		No	ClinGen Ensembl
CA378297772 rs1160080805	549	T>S		No	ClinGen TOPMed
CA5716589 rs577455773	551	Q>E		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1269366041 CA378297784	551	Q>R		No	ClinGen TOPMed gnomAD
rs79949996 CA214225432	553	E>K		No	ClinGen Ensembl
TCGA novel	562	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA378297855 rs1240662655	563	S>G		No	ClinGen TOPMed gnomAD
rs781701307 CA5716593	563	S>N		No	ClinGen ExAC gnomAD
CA5716594 rs372524229	564	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
rs1424751289 CA378297867	564	S>R		No	ClinGen gnomAD
rs1589633145 CA378297876	566	T>S		No	ClinGen Ensembl
CA378297901 rs1470203532	569	P>L		No	ClinGen gnomAD
rs1259736890 CA378297898	569	P>S		No	ClinGen TOPMed
CA378297903 rs1226040141	570	G>R		No	ClinGen TOPMed
rs749452009 CA5716597	571	N>S		No	ClinGen ExAC gnomAD
CA5716598 rs755280040	573	A>V		No	ClinGen ExAC gnomAD
CA5716599 rs779083262	574	A>S		No	ClinGen ExAC TOPMed gnomAD
CA5716600 rs748233260	575	P>L	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	576	P>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA

2 associated diseases with O95817

[MIM: 612954]: Myopathy, myofibrillar, 6 (MFM6)

A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. {ECO:0000269|PubMed:19085932, ECO:0000269|PubMed:21361913, ECO:0000269|PubMed:21898660}. Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 613881]: Cardiomyopathy, dilated 1HH (CMD1HH)

A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:21353195, ECO:0000269|PubMed:21459883, ECO:0000269|PubMed:21898660}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disk and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM6 is characterized by early-onset of severe, progressive, diffuse muscle weakness associated with cardiomyopathy, severe respiratory insufficiency during adolescence, and a rigid spine in some patients. {ECO:0000269|PubMed:19085932, ECO:0000269|PubMed:21361913, ECO:0000269|PubMed:21898660}. Note=The disease is caused by variants affecting the gene represented in this entry.
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:21353195, ECO:0000269|PubMed:21459883, ECO:0000269|PubMed:21898660}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for O95817

Type	Name	Position	InterPro Accession
domain	WW domain	20 - 54	IPR001202
domain	BAG domain	421 - 498	IPR003103

Functions

		Description
EC Number
Subcellular Localization	Nucleus Cytoplasm	Colocalizes with HSF1 to the nucleus upon heat stress (PubMed:26159920)
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

9 GO annotations of cellular component

Name	Definition
aggresome	An inclusion body formed by dynein-dependent retrograde transport of an aggregated protein on microtubules.
chaperone complex	A protein complex required for the non-covalent folding or unfolding, maturation, stabilization or assembly or disassembly of macromolecular structures. Usually active during or immediately after completion of translation. Many chaperone complexes contain heat shock proteins.
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
neuron projection	A prolongation or process extending from a nerve cell, e.g. an axon or dendrite.
nucleus	A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent.
stress fiber	A contractile actin filament bundle that consists of short actin filaments with alternating polarity, cross-linked by alpha-actinin and possibly other actin bundling proteins, and with myosin present in a periodic distribution along the fiber.
Z disc	Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached.

6 GO annotations of molecular function

Name	Definition
adenyl-nucleotide exchange factor activity	Binds to and stimulates the hydrolysis and exchange of adenyl nucleotides by other proteins.
cadherin binding	Binding to cadherin, a type I membrane protein involved in cell adhesion.
chaperone binding	Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport.
dynein intermediate chain binding	Binding to an intermediate chain of the dynein complex.
protein carrier chaperone	Binding to and carrying a protein between two different cellular components by moving along with the target protein.
protein-containing complex binding	Binding to a macromolecular complex.

22 GO annotations of biological process

Name	Definition
aggresome assembly	The aggregation, arrangement and bonding together of a set of components to form an aggresome; requires the microtubule cytoskeleton and dynein.
autophagosome assembly	The formation of a double membrane-bounded structure, the autophagosome, that occurs when a specialized membrane sac, called the isolation membrane, starts to enclose a portion of the cytoplasm.
brain development	The process whose specific outcome is the progression of the brain over time, from its formation to the mature structure. Brain development begins with patterning events in the neural tube and ends with the mature structure that is the center of thought and emotion. The brain is responsible for the coordination and control of bodily activities and the interpretation of information from the senses (sight, hearing, smell, etc.).
cellular response to heat	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 heat stimulus, a temperature stimulus above the optimal temperature for that organism.
cellular response to mechanical stimulus	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 mechanical stimulus.
cellular response to unfolded protein	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 an unfolded protein stimulus.
chaperone-mediated autophagy	The autophagy process which begins when chaperones and co-chaperones recognize a target motif and unfold the substrate protein. The proteins are then transported to the lysosome where they are degraded.
extrinsic apoptotic signaling pathway in absence of ligand	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with withdrawal of a ligand from a cell surface receptor, and ends when the execution phase of apoptosis is triggered.
extrinsic apoptotic signaling pathway via death domain receptors	The series of molecular signals in which a signal is conveyed from the cell surface to trigger the apoptotic death of a cell. The pathway starts with a ligand binding to a death domain receptor on the cell surface, and ends when the execution phase of apoptosis is triggered.
muscle cell cellular homeostasis	The cellular homeostatic process that preserves a muscle cell in a stable functional or structural state.
negative regulation of apoptotic process	Any process that stops, prevents, or reduces the frequency, rate or extent of cell death by apoptotic process.
negative regulation of protein targeting to mitochondrion	Any process that stops, prevents or reduces the frequency, rate or extent of protein targeting to mitochondrion.
negative regulation of striated muscle cell apoptotic process	Any process that decreases the rate or extent of striated muscle cell apoptotic process, a form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases whose actions dismantle a striated muscle cell and result in its death.
negative regulation of transcription from RNA polymerase II promoter in response to stress	Any process that decreases the frequency, rate or extent of transcription from an RNA polymerase II promoter as a result of a stimulus indicating the organism is under stress. The stress is usually, but not necessarily, exogenous (e.g. temperature, humidity, ionizing radiation).
positive regulation of aggrephagy	Any process that activates or increases the frequency, rate or extent of aggrephagy.
positive regulation of protein export from nucleus	Any process that activates or increases the frequency, rate or extent of directed movement of proteins from the nucleus into the cytoplasm.
positive regulation of protein import into nucleus	Any process that activates or increases the frequency, rate or extent of movement of proteins from the cytoplasm into the nucleus.
protein folding	The process of assisting in the covalent and noncovalent assembly of single chain polypeptides or multisubunit complexes into the correct tertiary structure.
protein stabilization	Any process involved in maintaining the structure and integrity of a protein and preventing it from degradation or aggregation.
protein transport along microtubule	The directed movement of a protein along a microtubule, mediated by motor proteins.
spinal cord development	The process whose specific outcome is the progression of the spinal cord over time, from its formation to the mature structure. The spinal cord primarily conducts sensory and motor nerve impulses between the brain and the peripheral nervous tissues.
striated muscle cell apoptotic process	A form of programmed cell death induced by external or internal signals that trigger the activity of proteolytic caspases, whose actions dismantle a striated muscle cell and result in its death. Striated muscle cells make up striated muscle fibers which are divided by transverse bands into striations.

21 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
Q9Y0H4	Su(dx)	E3 ubiquitin-protein ligase Su	Drosophila melanogaster (Fruit fly)	SS
Q9V853	Smurf	E3 ubiquitin-protein ligase Smurf1	Drosophila melanogaster (Fruit fly)	SS
Q9HAU4	SMURF2	E3 ubiquitin-protein ligase SMURF2	Homo sapiens (Human)	EV
O00308	WWP2	NEDD4-like E3 ubiquitin-protein ligase WWP2	Homo sapiens (Human)	EV
Q9HCE7	SMURF1	E3 ubiquitin-protein ligase SMURF1	Homo sapiens (Human)	PR
Q96PU5	NEDD4L	E3 ubiquitin-protein ligase NEDD4-like	Homo sapiens (Human)	PR
O60861	GAS7	Growth arrest-specific protein 7	Homo sapiens (Human)	PR
P46934	NEDD4	E3 ubiquitin-protein ligase NEDD4	Homo sapiens (Human)	EV
Q9H0M0	WWP1	NEDD4-like E3 ubiquitin-protein ligase WWP1	Homo sapiens (Human)	EV
Q96J02	ITCH	E3 ubiquitin-protein ligase Itchy homolog	Homo sapiens (Human)	EV
P46935	Nedd4	E3 ubiquitin-protein ligase NEDD4	Mus musculus (Mouse)	PR
Q9CUN6	Smurf1	E3 ubiquitin-protein ligase SMURF1	Mus musculus (Mouse)	PR
A2A5Z6	Smurf2	E3 ubiquitin-protein ligase SMURF2	Mus musculus (Mouse)	SS
Q8BZZ3	Wwp1	NEDD4-like E3 ubiquitin-protein ligase WWP1	Mus musculus (Mouse)	SS
Q60780	Gas7	Growth arrest-specific protein 7	Mus musculus (Mouse)	PR
Q8C863	Itch	E3 ubiquitin-protein ligase Itchy	Mus musculus (Mouse)	EV
Q9DBH0	Wwp2	NEDD4-like E3 ubiquitin-protein ligase WWP2	Mus musculus (Mouse)	SS
Q8CFI0	Nedd4l	E3 ubiquitin-protein ligase NEDD4-like	Mus musculus (Mouse)	PR
Q62940	Nedd4	E3 ubiquitin-protein ligase NEDD4	Rattus norvegicus (Rat)	PR
Q9N2Z7	wwp-1	E3 ubiquitin-protein ligase wwp-1	Caenorhabditis elegans	SS
A9JRZ0	smurf2	E3 ubiquitin-protein ligase SMURF2	Danio rerio (Zebrafish) (Brachydanio rerio)	SS

10	20	30	40	50	60
MSAATHSPMM	QVASGNGDRD	PLPPGWEIKI	DPQTGWPFFV	DHNSRTTTWN	DPRVPSEGPK
70	80	90	100	110	120
ETPSSANGPS	REGSRLPPAR	EGHPVYPQLR	PGYIPIPVLH	EGAENRQVHP	FHVYPQPGMQ
130	140	150	160	170	180
RFRTEAAAAA	PQRSQSPLRG	MPETTQPDKQ	CGQVAAAAAA	QPPASHGPER	SQSPAASDCS
190	200	210	220	230	240
SSSSSASLPS	SGRSSLGSHQ	LPRGYISIPV	IHEQNVTRPA	AQPSFHQAQK	THYPAQQGEY
250	260	270	280	290	300
QTHQPVYHKI	QGDDWEPRPL	RAASPFRSSV	QGASSREGSP	ARSSTPLHSP	SPIRVHTVVD
310	320	330	340	350	360
RPQQPMTHRE	TAPVSQPENK	PESKPGPVGP	ELPPGHIPIQ	VIRKEVDSKP	VSQKPPPPSE
370	380	390	400	410	420
KVEVKVPPAP	VPCPPPSPGP	SAVPSSPKSV	ATEERAAPST	APAEATPPKP	GEAEAPPKHP
430	440	450	460	470	480
GVLKVEAILE	KVQGLEQAVD	NFEGKKTDKK	YLMIEEYLTK	ELLALDSVDP	EGRADVRQAR
490	500	510	520	530	540
RDGVRKVQTI	LEKLEQKAID	VPGQVQVYEL	QPSNLEADQP	LQAIMEMGAV	AADKGKKNAG
550	560	570
NAEDPHTETQ	QPEATAAATS	NPSSMTDTPG	NPAAP