CleftGeneDB-Search

Gene: PRDM16

Basic information

Tag	Content
Uniprot ID	Q9HAZ2; A6NHQ8; B1AJP7; B1AJP8; B1AJP9; B1WB48; Q8WYJ9; Q9C0I8;
Entrez ID	63976
Genbank protein ID	AAG33382.1; BAB84297.1; AAI61614.1; BAB21766.2;
Genbank nucleotide ID	NM_022114.3; NM_199454.2; XM_011541945.2;
Ensembl protein ID	ENSP00000270722; ENSP00000367643;
Ensembl nucleotide ID	ENSG00000142611
Gene name	Histone-lysine N-methyltransferase PRDM16
Gene symbol	PRDM16
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Binds DNA and functions as a transcriptional regulator (PubMed:12816872). Displays histone methyltransferase activity and monomethylates 'Lys-9' of histone H3 (H3K9me1) in vitro (By similarity). Probably catalyzes the monomethylation of free histone H3 in the cytoplasm which is then transported to the nucleus and incorporated into nucleosomes where SUV39H methyltransferases use it as a substrate to catalyze histone H3 'Lys-9' trimethylation (By similarity). Likely to be one of the primary histone methyltransferases along with MECOM/PRDM3 that direct cytoplasmic H3K9me1 methylation (By similarity). Functions in the differentiation of brown adipose tissue (BAT) which is specialized in dissipating chemical energy in the form of heat in response to cold or excess feeding while white adipose tissue (WAT) is specialized in the storage of excess energy and the control of systemic metabolism (By similarity). Together with CEBPB, regulates the differentiation of myoblastic precursors into brown adipose cells (By similarity). Functions as a repressor of TGF-beta signaling (PubMed:19049980).
Sequence	MRSKARARKL AKSDGDVVNN MYEPNRDLLA SHSAEDEAED SAMSPIPVGP PSPFPTSEDF 60 TPKEGSPYEA PVYIPEDIPI PADFELRESS IPGAGLGVWA KRKMEAGERL GPCVVVPRAA 120 AKETDFGWEQ ILTDVEVSPQ EGCITKISED LGSEKFCVDA NQAGAGSWLK YIRVACSCDD 180 QNLTMCQISE QIYYKVIKDI EPGEELLVHV KEGVYPLGTV PPGLDEEPTF RCDECDELFQ 240 SKLDLRRHKK YTCGSVGAAL YEGLAEELKP EGLGGGSGQA HECKDCERMF PNKYSLEQHM 300 VIHTEEREYK CDQCPKAFNW KSNLIRHQMS HDSGKRFECE NCVKVFTDPS NLQRHIRSQH 360 VGARAHACPD CGKTFATSSG LKQHKHIHST VKPFICEVCH KSYTQFSNLC RHKRMHADCR 420 TQIKCKDCGQ MFSTTSSLNK HRRFCEGKNH YTPGGIFAPG LPLTPSPMMD KAKPSPSLNH 480 ASLGFNEYFP SRPHPGSLPF STAPPTFPAL TPGFPGIFPP SLYPRPPLLP PTSLLKSPLN 540 HTQDAKLPSP LGNPALPLVS AVSNSSQGTT AAAGPEEKFE SRLEDSCVEK LKTRSSDMSD 600 GSDFEDVNTT TGTDLDTTTG TGSDLDSDVD SDPDKDKGKG KSAEGQPKFG GGLAPPGAPN 660 SVAEVPVFYS QHSFFPPPDE QLLTATGAAG DSIKAIASIA EKYFGPGFMG MQEKKLGSLP 720 YHSAFPFQFL PNFPHSLYPF TDRALAHNLL VKAEPKSPRD ALKVGGPSAE CPFDLTTKPK 780 DVKPILPMPK GPSAPASGEE QPLDLSIGSR ARASQNGGGR EPRKNHVYGE RKLGAGEGLP 840 QVCPARMPQQ PPLHYAKPSP FFMDPIYSRV EKRKVTDPVG ALKEKYLRPS PLLFHPQMSA 900 IETMTEKLES FAAMKADSGS SLQPLPHHPF NFRSPPPTLS DPILRKGKER YTCRYCGKIF 960 PRSANLTRHL RTHTGEQPYR CKYCDRSFSI SSNLQRHVRN IHNKEKPFKC HLCNRCFGQQ 1020 TNLDRHLKKH EHENAPVSQH PGVLTNHLGT SASSPTSESD NHALLDEKED SYFSEIRNFI 1080 ANSEMNQAST RTEKRADMQI VDGSAQCPGL ASEKQEDVEE EDDDDLEEDD EDSLAGKSQD 1140 DTVSPAPEPQ AAYEDEEDEE PAASLAVGFD HTRRCAEDHE GGLLALEPMP TFGKGLDLRR 1200 AAEEAFEVKD VLNSTLDSEA LKHTLCRQAK NQAYAMMLSL SEDTPLHTPS QGSLDAWLKV 1260 TGATSESGAF HPINHL 1276

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2N1I
6BW4

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	PRDM16		A0A452F1P6			Capra hircus	Prediction	More>>
1:1 ortholog	PRDM16	63976	Q9HAZ2			Homo sapiens	Prediction	More>>
1:1 ortholog	Prdm16	70673	A2A935	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	PRDM16	457227	H2R9K2			Pan troglodytes	Prediction	More>>
1:1 ortholog	Prdm16	100366024	A0A096MJ70			Rattus norvegicus	Prediction	More>>
1:1 ortholog	prdm16		B8JHX5			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs771162763	p.Ser3Phe	missense variant	-	NC_000001.11:g.3069267C>T	ExAC,TOPMed,gnomAD
rs1191048583	p.Ala5Thr	missense variant	-	NC_000001.11:g.3069272G>A	gnomAD
rs1255269495	p.Ala11Thr	missense variant	-	NC_000001.11:g.3069290G>A	TOPMed
rs1330765952	p.Ser13Asn	missense variant	-	NC_000001.11:g.3186125G>A	gnomAD
RCV000523808	p.Gly15Ser	missense variant	-	NC_000001.11:g.3186130G>A	ClinVar
rs201559520	p.Gly15Ser	missense variant	-	NC_000001.11:g.3186130G>A	ExAC,TOPMed,gnomAD
rs755458264	p.Asp16Glu	missense variant	-	NC_000001.11:g.3186135C>G	ExAC,TOPMed
RCV000615310	p.Val17Ile	missense variant	-	NC_000001.11:g.3186136G>A	ClinVar
rs183153140	p.Val17Ile	missense variant	-	NC_000001.11:g.3186136G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs183153140	p.Val17Phe	missense variant	-	NC_000001.11:g.3186136G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000548450	p.Val17Ile	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186136G>A	ClinVar
RCV000528572	p.Val17Phe	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186136G>T	ClinVar
rs771752991	p.Val18Ala	missense variant	-	NC_000001.11:g.3186140T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn19Lys	missense variant	-	NC_000001.11:g.3186144T>A	NCI-TCGA
rs1274428779	p.Asn19Ser	missense variant	-	NC_000001.11:g.3186143A>G	gnomAD
rs1246236090	p.Asn19His	missense variant	-	NC_000001.11:g.3186142A>C	gnomAD
rs772972557	p.Met21Val	missense variant	-	NC_000001.11:g.3186148A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met21Thr	missense variant	-	NC_000001.11:g.3186149T>C	NCI-TCGA
rs746620520	p.Met21Ile	missense variant	-	NC_000001.11:g.3186150G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro24Ser	missense variant	-	NC_000001.11:g.3186157C>T	NCI-TCGA
rs770517714	p.Pro24Leu	missense variant	-	NC_000001.11:g.3186158C>T	ExAC,gnomAD
rs770517714	p.Pro24His	missense variant	-	NC_000001.11:g.3186158C>A	ExAC,gnomAD
rs1239281386	p.Asn25Ser	missense variant	-	NC_000001.11:g.3186161A>G	gnomAD
rs1239281386	p.Asn25Ile	missense variant	-	NC_000001.11:g.3186161A>T	gnomAD
RCV000549245	p.Arg26Trp	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186163C>T	ClinVar
rs769704263	p.Arg26Trp	missense variant	-	NC_000001.11:g.3186163C>T	ExAC,TOPMed,gnomAD
rs375422885	p.Arg26Gln	missense variant	-	NC_000001.11:g.3186164G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1447382072	p.Asp27Asn	missense variant	-	NC_000001.11:g.3186166G>A	gnomAD
rs1169589214	p.Leu28Gln	missense variant	-	NC_000001.11:g.3186170T>A	gnomAD
rs761849642	p.Leu29Met	missense variant	-	NC_000001.11:g.3186172C>A	ExAC,TOPMed,gnomAD
rs767537248	p.Ala30Thr	missense variant	-	NC_000001.11:g.3186175G>A	ExAC,gnomAD
rs750535149	p.Ser31Arg	missense variant	-	NC_000001.11:g.3186180C>G	ExAC,gnomAD
rs760886229	p.Ser33Gly	missense variant	-	NC_000001.11:g.3186184A>G	ExAC,TOPMed,gnomAD
rs766525954	p.Ser33Ile	missense variant	-	NC_000001.11:g.3186185G>T	ExAC,TOPMed,gnomAD
RCV000456657	p.Ala34Val	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186188C>T	ClinVar
rs187194973	p.Ala34Ser	missense variant	-	NC_000001.11:g.3186187G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779535977	p.Ala34Glu	missense variant	-	NC_000001.11:g.3186188C>A	ExAC,TOPMed,gnomAD
rs187194973	p.Ala34Thr	missense variant	-	NC_000001.11:g.3186187G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779535977	p.Ala34Val	missense variant	-	NC_000001.11:g.3186188C>T	ExAC,TOPMed,gnomAD
RCV000228623	p.Ala34Thr	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186187G>A	ClinVar
rs777374351	p.Glu35Lys	missense variant	-	NC_000001.11:g.3186190G>A	ExAC,gnomAD
rs746503102	p.Asp36Ala	missense variant	-	NC_000001.11:g.3186194A>C	ExAC,TOPMed,gnomAD
rs369539275	p.Glu37Lys	missense variant	-	NC_000001.11:g.3186196G>A	ESP,ExAC,TOPMed,gnomAD
rs775285788	p.Glu39Lys	missense variant	-	NC_000001.11:g.3186202G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala42Gly	missense variant	-	NC_000001.11:g.3186212C>G	NCI-TCGA
rs1170712675	p.Met43Ile	missense variant	-	NC_000001.11:g.3186216G>A	gnomAD
rs1000779523	p.Met43Val	missense variant	-	NC_000001.11:g.3186214A>G	gnomAD
rs1033520765	p.Ser44Leu	missense variant	-	NC_000001.11:g.3186218C>T	TOPMed,gnomAD
rs550755189	p.Pro45Thr	missense variant	-	NC_000001.11:g.3186220C>A	1000Genomes,ExAC,gnomAD
rs1383557016	p.Pro47Leu	missense variant	-	NC_000001.11:g.3186227C>T	gnomAD
rs1385905038	p.Pro47Ser	missense variant	-	NC_000001.11:g.3186226C>T	gnomAD
rs1385905038	p.Pro47Thr	missense variant	-	NC_000001.11:g.3186226C>A	gnomAD
RCV000234327	p.Val48Met	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186229G>A	ClinVar
RCV000430883	p.Val48Met	missense variant	-	NC_000001.11:g.3186229G>A	ClinVar
rs199968728	p.Val48Met	missense variant	-	NC_000001.11:g.3186229G>A	ESP,ExAC,TOPMed,gnomAD
rs766616489	p.Val48Gly	missense variant	-	NC_000001.11:g.3186230T>G	ExAC,gnomAD
rs754043874	p.Gly49Val	missense variant	-	NC_000001.11:g.3186233G>T	ExAC,gnomAD
RCV000486085	p.Gly49Glu	missense variant	-	NC_000001.11:g.3186233G>A	ClinVar
rs754043874	p.Gly49Glu	missense variant	-	NC_000001.11:g.3186233G>A	ExAC,gnomAD
rs765652014	p.Pro51Leu	missense variant	-	NC_000001.11:g.3186239C>T	ExAC,TOPMed,gnomAD
rs1487003070	p.Ser52Phe	missense variant	-	NC_000001.11:g.3186242C>T	TOPMed,gnomAD
rs1487003070	p.Ser52Tyr	missense variant	-	NC_000001.11:g.3186242C>A	TOPMed,gnomAD
COSM3865272	p.Pro53Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186245C>T	NCI-TCGA Cosmic
rs1205915078	p.Pro53Ala	missense variant	-	NC_000001.11:g.3186244C>G	gnomAD
COSM3369683	p.Pro55Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186251C>T	NCI-TCGA Cosmic
rs1450785663	p.Pro55Ser	missense variant	-	NC_000001.11:g.3186250C>T	gnomAD
rs780483759	p.Glu58Asp	missense variant	-	NC_000001.11:g.3186261G>C	ExAC,TOPMed,gnomAD
rs972134115	p.Glu58Lys	missense variant	-	NC_000001.11:g.3186259G>A	gnomAD
rs1361547661	p.Phe60Leu	missense variant	-	NC_000001.11:g.3186265T>C	gnomAD
rs1455068514	p.Thr61Asn	missense variant	-	NC_000001.11:g.3186269C>A	gnomAD
rs1401719819	p.Gly65Asp	missense variant	-	NC_000001.11:g.3186281G>A	TOPMed
rs1390492668	p.Gly65Ser	missense variant	-	NC_000001.11:g.3186280G>A	gnomAD
RCV000554012	p.Ser66Leu	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186284C>T	ClinVar
rs374012976	p.Ser66Leu	missense variant	-	NC_000001.11:g.3186284C>T	ESP,ExAC,TOPMed,gnomAD
RCV000469281	p.Pro67Leu	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186287C>T	ClinVar
rs1060501005	p.Pro67Leu	missense variant	-	NC_000001.11:g.3186287C>T	gnomAD
rs779756897	p.Glu69Lys	missense variant	-	NC_000001.11:g.3186292G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala70Thr	missense variant	-	NC_000001.11:g.3186295G>A	NCI-TCGA
rs749093354	p.Pro71Leu	missense variant	-	NC_000001.11:g.3186299C>T	ExAC,gnomAD
rs1208537671	p.Val72Gly	missense variant	-	NC_000001.11:g.3186302T>G	gnomAD
rs774220044	p.Ile74Val	missense variant	-	NC_000001.11:g.3186307A>G	ExAC,gnomAD
rs374449916	p.Asp77His	missense variant	-	NC_000001.11:g.3186316G>C	ESP,ExAC,TOPMed,gnomAD
rs1181335618	p.Pro79Leu	missense variant	-	NC_000001.11:g.3186323C>T	TOPMed,gnomAD
rs759796510	p.Ala82Val	missense variant	-	NC_000001.11:g.3186332C>T	ExAC,gnomAD
rs775941451	p.Asp83Ala	missense variant	-	NC_000001.11:g.3186335A>C	ExAC,gnomAD
rs1231046017	p.Asp83Glu	missense variant	-	NC_000001.11:g.3186336C>G	TOPMed
COSM4932366	p.Phe84Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186338T>A	NCI-TCGA Cosmic
rs370290776	p.Phe84Leu	missense variant	-	NC_000001.11:g.3186339C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1165923625	p.Glu85Gln	missense variant	-	NC_000001.11:g.3186340G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Arg87Ter	stop gained	-	NC_000001.11:g.3186346C>T	NCI-TCGA
rs764659440	p.Arg87Gln	missense variant	-	NC_000001.11:g.3186347G>A	ExAC,TOPMed,gnomAD
rs945163627	p.Glu88Asp	missense variant	-	NC_000001.11:g.3186351G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser90Thr	missense variant	-	NC_000001.11:g.3186355T>A	NCI-TCGA
rs1391983010	p.Ile91Val	missense variant	-	NC_000001.11:g.3186358A>G	gnomAD
COSM3487926	p.Pro92Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186361C>T	NCI-TCGA Cosmic
rs1447130590	p.Gly93Glu	missense variant	-	NC_000001.11:g.3186365G>A	gnomAD
rs1338997968	p.Ala94Ser	missense variant	-	NC_000001.11:g.3186367G>T	gnomAD
rs903532512	p.Arg102Thr	missense variant	-	NC_000001.11:g.3186392G>C	TOPMed
rs756770878	p.Met104Thr	missense variant	-	NC_000001.11:g.3186398T>C	ExAC,gnomAD
rs1187476584	p.Met104Leu	missense variant	-	NC_000001.11:g.3186397A>C	TOPMed,gnomAD
rs1033476921	p.Glu105Asp	missense variant	-	NC_000001.11:g.3186402A>C	TOPMed
rs766897178	p.Ala106Thr	missense variant	-	NC_000001.11:g.3186403G>A	ExAC,TOPMed,gnomAD
rs1216037652	p.Gly107Glu	missense variant	-	NC_000001.11:g.3186407G>A	TOPMed
rs1249487074	p.Arg109Ser	missense variant	-	NC_000001.11:g.3186414G>T	gnomAD
COSM4031320	p.Leu110Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186416T>C	NCI-TCGA Cosmic
RCV000555918	p.Gly111Asp	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186419G>A	ClinVar
rs755705452	p.Gly111Asp	missense variant	-	NC_000001.11:g.3186419G>A	ExAC,TOPMed,gnomAD
rs749076034	p.Val114Met	missense variant	-	NC_000001.11:g.3186427G>A	ExAC,TOPMed,gnomAD
rs749076034	p.Val114Leu	missense variant	-	NC_000001.11:g.3186427G>T	ExAC,TOPMed,gnomAD
rs749076034	p.Val114Leu	missense variant	-	NC_000001.11:g.3186427G>C	ExAC,TOPMed,gnomAD
rs1057524218	p.Val116Ala	missense variant	-	NC_000001.11:g.3186434T>C	-
RCV000426483	p.Val116Ala	missense variant	-	NC_000001.11:g.3186434T>C	ClinVar
NCI-TCGA novel	p.Pro117Ser	missense variant	-	NC_000001.11:g.3186436C>T	NCI-TCGA
RCV000532976	p.Arg118Gln	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3186440G>A	ClinVar
rs538278091	p.Arg118Gln	missense variant	-	NC_000001.11:g.3186440G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs777345264	p.Arg118Trp	missense variant	-	NC_000001.11:g.3186439C>T	ExAC,TOPMed,gnomAD
rs776511558	p.Ala119Val	missense variant	-	NC_000001.11:g.3186443C>T	ExAC,gnomAD
rs770130107	p.Ala120Val	missense variant	-	NC_000001.11:g.3186446C>T	ExAC,gnomAD
rs1338657465	p.Ala121Ser	missense variant	-	NC_000001.11:g.3186448G>T	TOPMed,gnomAD
COSM6063042	p.Lys122Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3186453G>T	NCI-TCGA Cosmic
rs1454819058	p.Thr124Ala	missense variant	-	NC_000001.11:g.3186457A>G	gnomAD
NCI-TCGA novel	p.Phe126Leu	missense variant	-	NC_000001.11:g.3186465C>A	NCI-TCGA
rs764416619	p.Phe126Val	missense variant	-	NC_000001.11:g.3186463T>G	ExAC,TOPMed,gnomAD
rs764416619	p.Phe126Leu	missense variant	-	NC_000001.11:g.3186463T>C	ExAC,TOPMed,gnomAD
rs552204871	p.Gly127Arg	missense variant	-	NC_000001.11:g.3186466G>A	1000Genomes,gnomAD
rs762159347	p.Gly127Glu	missense variant	-	NC_000001.11:g.3186467G>A	ExAC,TOPMed,gnomAD
rs898082337	p.Gln130Glu	missense variant	-	NC_000001.11:g.3244087C>G	TOPMed,gnomAD
rs760152938	p.Leu132Val	missense variant	-	NC_000001.11:g.3244093C>G	ExAC,gnomAD
RCV000519955	p.Thr133Met	missense variant	-	NC_000001.11:g.3244097C>T	ClinVar
rs530119550	p.Thr133Met	missense variant	-	NC_000001.11:g.3244097C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs372159539	p.Val135Met	missense variant	-	NC_000001.11:g.3244102G>A	ESP,ExAC,TOPMed,gnomAD
rs372159539	p.Val135Leu	missense variant	-	NC_000001.11:g.3244102G>C	ESP,ExAC,TOPMed,gnomAD
RCV000800420	p.Val135Met	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3244102G>A	ClinVar
RCV000498621	p.Val135Met	missense variant	-	NC_000001.11:g.3244102G>A	ClinVar
NCI-TCGA novel	p.Glu136LysPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.3244104G>-	NCI-TCGA
rs1289595764	p.Glu136Gln	missense variant	-	NC_000001.11:g.3244105G>C	TOPMed
rs1161500379	p.Val137Ala	missense variant	-	NC_000001.11:g.3244109T>C	gnomAD
RCV000605675	p.Ser138Leu	missense variant	-	NC_000001.11:g.3244112C>T	ClinVar
rs552668116	p.Ser138Leu	missense variant	-	NC_000001.11:g.3244112C>T	ExAC,TOPMed,gnomAD
rs1346765382	p.Ser138Pro	missense variant	-	NC_000001.11:g.3244111T>C	gnomAD
rs753221183	p.Pro139His	missense variant	-	NC_000001.11:g.3244115C>A	ExAC,gnomAD
rs753221183	p.Pro139Leu	missense variant	-	NC_000001.11:g.3244115C>T	ExAC,gnomAD
COSM908136	p.Gln140His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3244119G>T	NCI-TCGA Cosmic
COSM3487956	p.Glu141Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3244120G>A	NCI-TCGA Cosmic
rs1258547897	p.Glu141Gln	missense variant	-	NC_000001.11:g.3244120G>C	TOPMed
rs948346242	p.Cys143Tyr	missense variant	-	NC_000001.11:g.3244127G>A	TOPMed
NCI-TCGA novel	p.Ile144Met	missense variant	-	NC_000001.11:g.3244131C>G	NCI-TCGA
rs757284038	p.Ile144Asn	missense variant	-	NC_000001.11:g.3244130T>A	ExAC,gnomAD
rs757284038	p.Ile144Thr	missense variant	-	NC_000001.11:g.3244130T>C	ExAC,gnomAD
rs1283424828	p.Ile144Val	missense variant	-	NC_000001.11:g.3244129A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Glu149Gln	missense variant	-	NC_000001.11:g.3385158G>C	NCI-TCGA
rs576922307	p.Glu149Lys	missense variant	-	NC_000001.11:g.3385158G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu151Met	missense variant	-	NC_000001.11:g.3385164C>A	NCI-TCGA
rs371021789	p.Leu151Val	missense variant	-	NC_000001.11:g.3385164C>G	ESP,ExAC,TOPMed,gnomAD
COSM4826799	p.Ser153Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3385171G>A	NCI-TCGA Cosmic
rs1216812494	p.Lys155Asn	missense variant	-	NC_000001.11:g.3385178G>C	gnomAD
NCI-TCGA novel	p.Phe156Leu	missense variant	-	NC_000001.11:g.3385181C>A	NCI-TCGA
rs1306661340	p.Cys157Tyr	missense variant	-	NC_000001.11:g.3385183G>A	TOPMed
rs948941830	p.Val158Met	missense variant	-	NC_000001.11:g.3385185G>A	TOPMed,gnomAD
rs1202036077	p.Asp159Val	missense variant	-	NC_000001.11:g.3385189A>T	gnomAD
rs758553737	p.Ala160Thr	missense variant	-	NC_000001.11:g.3385191G>A	ExAC,TOPMed,gnomAD
RCV000475755	p.Asn161Asp	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3385194A>G	ClinVar
rs374664141	p.Asn161Tyr	missense variant	-	NC_000001.11:g.3385194A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374664141	p.Asn161Asp	missense variant	-	NC_000001.11:g.3385194A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374664141	p.Asn161His	missense variant	-	NC_000001.11:g.3385194A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757661858	p.Gln162Leu	missense variant	-	NC_000001.11:g.3385198A>T	ExAC,gnomAD
rs757661858	p.Gln162Pro	missense variant	-	NC_000001.11:g.3385198A>C	ExAC,gnomAD
RCV000444937	p.Ala163Val	missense variant	-	NC_000001.11:g.3385201C>T	ClinVar
rs201182055	p.Ala163Gly	missense variant	-	NC_000001.11:g.3385201C>G	ExAC,TOPMed,gnomAD
rs201182055	p.Ala163Val	missense variant	-	NC_000001.11:g.3385201C>T	ExAC,TOPMed,gnomAD
RCV000535819	p.Ala163Val	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3385201C>T	ClinVar
rs770235387	p.Gly164Arg	missense variant	-	NC_000001.11:g.3385203G>A	ExAC,TOPMed,gnomAD
rs561382082	p.Ala165Thr	missense variant	-	NC_000001.11:g.3385206G>A	1000Genomes,ExAC,gnomAD
rs1173816589	p.Gly166Asp	missense variant	-	NC_000001.11:g.3385210G>A	gnomAD
rs1482685748	p.Leu169Phe	missense variant	-	NC_000001.11:g.3385218C>T	TOPMed
NCI-TCGA novel	p.Lys170Arg	missense variant	-	NC_000001.11:g.3385222A>G	NCI-TCGA
rs768419281	p.Arg173His	missense variant	-	NC_000001.11:g.3385231G>A	ExAC,TOPMed,gnomAD
rs1452901414	p.Arg173Cys	missense variant	-	NC_000001.11:g.3385230C>T	gnomAD
rs1440344671	p.Ala175Pro	missense variant	-	NC_000001.11:g.3385236G>C	TOPMed
rs371532027	p.Ala175Val	missense variant	-	NC_000001.11:g.3385237C>T	ESP,ExAC,TOPMed,gnomAD
rs772909540	p.Ser177Pro	missense variant	-	NC_000001.11:g.3385242T>C	ExAC,gnomAD
rs929298724	p.Asp179Asn	missense variant	-	NC_000001.11:g.3385248G>A	TOPMed,gnomAD
rs1023899067	p.Met185Ile	missense variant	-	NC_000001.11:g.3385268G>C	TOPMed
rs1023899067	p.Met185Ile	missense variant	-	NC_000001.11:g.3385268G>A	TOPMed
RCV000224254	p.Met185Val	missense variant	-	NC_000001.11:g.3385266A>G	ClinVar
rs376567517	p.Met185Val	missense variant	-	NC_000001.11:g.3385266A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752812879	p.Gln187His	missense variant	-	NC_000001.11:g.3385274G>C	ExAC,TOPMed,gnomAD
rs368081666	p.Ser189Arg	missense variant	-	NC_000001.11:g.3385280T>G	ESP,ExAC,TOPMed,gnomAD
rs764272111	p.Gln191Glu	missense variant	-	NC_000001.11:g.3385284C>G	ExAC,gnomAD
rs1414358883	p.Ile192Val	missense variant	-	NC_000001.11:g.3396491A>G	TOPMed,gnomAD
COSM426108	p.Tyr194Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3396498A>G	NCI-TCGA Cosmic
rs759431214	p.Val196Ala	missense variant	-	NC_000001.11:g.3396504T>C	ExAC,gnomAD
rs1471095321	p.Asp199Tyr	missense variant	-	NC_000001.11:g.3396512G>T	gnomAD
rs375877356	p.Ile200Val	missense variant	-	NC_000001.11:g.3396515A>G	ESP
COSM3865322	p.Glu201Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3396518G>A	NCI-TCGA Cosmic
rs769730026	p.Glu201Gly	missense variant	-	NC_000001.11:g.3396519A>G	ExAC,gnomAD
rs1342350593	p.Val208Ala	missense variant	-	NC_000001.11:g.3396540T>C	gnomAD
RCV000651652	p.His209Tyr	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3396542C>T	ClinVar
rs533353039	p.His209Tyr	missense variant	-	NC_000001.11:g.3396542C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1174793566	p.His209Arg	missense variant	-	NC_000001.11:g.3396543A>G	TOPMed
rs760972158	p.Val210Leu	missense variant	-	NC_000001.11:g.3396545G>C	ExAC,TOPMed,gnomAD
rs760972158	p.Val210Met	missense variant	-	NC_000001.11:g.3396545G>A	ExAC,TOPMed,gnomAD
rs1224991988	p.Lys211Asn	missense variant	-	NC_000001.11:g.3396550G>C	TOPMed,gnomAD
rs754256903	p.Val214Ile	missense variant	-	NC_000001.11:g.3396557G>A	ExAC,TOPMed,gnomAD
rs755482445	p.Tyr215Cys	missense variant	-	NC_000001.11:g.3396561A>G	ExAC,gnomAD
rs1316022343	p.Tyr215His	missense variant	-	NC_000001.11:g.3396560T>C	TOPMed
rs368140002	p.Pro216Ser	missense variant	-	NC_000001.11:g.3396563C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368140002	p.Pro216Thr	missense variant	-	NC_000001.11:g.3396563C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757889853	p.Pro216Arg	missense variant	-	NC_000001.11:g.3396564C>G	ExAC,gnomAD
rs1233652453	p.Gly218Asp	missense variant	-	NC_000001.11:g.3396570G>A	TOPMed
rs746597198	p.Val220Leu	missense variant	-	NC_000001.11:g.3396575G>T	ExAC,TOPMed,gnomAD
rs756967128	p.Pro221Leu	missense variant	-	NC_000001.11:g.3396579C>T	ExAC,TOPMed,gnomAD
rs1202885373	p.Gly223Val	missense variant	-	NC_000001.11:g.3396585G>T	TOPMed,gnomAD
rs745679180	p.Gly223Ser	missense variant	-	NC_000001.11:g.3396584G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp225Asn	missense variant	-	NC_000001.11:g.3396590G>A	NCI-TCGA
rs1437910317	p.Glu226Lys	missense variant	-	NC_000001.11:g.3396593G>A	gnomAD
rs1461037731	p.Glu227Asp	missense variant	-	NC_000001.11:g.3402795G>T	gnomAD
rs267598556	p.Glu227Lys	missense variant	-	NC_000001.11:g.3402793G>A	ExAC,TOPMed,gnomAD
rs1182820916	p.Pro228Ser	missense variant	-	NC_000001.11:g.3402796C>T	gnomAD
rs1182820916	p.Pro228Ala	missense variant	-	NC_000001.11:g.3402796C>G	gnomAD
rs768642626	p.Thr229Met	missense variant	-	NC_000001.11:g.3402800C>T	ExAC,TOPMed,gnomAD
COSM6062974	p.Phe230Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402803T>C	NCI-TCGA Cosmic
rs747166916	p.Phe230Leu	missense variant	-	NC_000001.11:g.3402804C>G	ExAC,gnomAD
rs1407647352	p.Arg231His	missense variant	-	NC_000001.11:g.3402806G>A	gnomAD
rs1407647352	p.Arg231Leu	missense variant	-	NC_000001.11:g.3402806G>T	gnomAD
rs771270937	p.Arg231Cys	missense variant	-	NC_000001.11:g.3402805C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp233Glu	missense variant	-	NC_000001.11:g.3402813C>G	NCI-TCGA
rs367748143	p.Glu234Lys	missense variant	-	NC_000001.11:g.3402814G>A	ESP,ExAC,TOPMed,gnomAD
rs775958668	p.Cys235Tyr	missense variant	-	NC_000001.11:g.3402818G>A	ExAC,gnomAD
RCV000656141	p.Asp236Asn	missense variant	Wolff-Parkinson-White pattern	NC_000001.11:g.3402820G>A	ClinVar
rs185041492	p.Asp236Asn	missense variant	-	NC_000001.11:g.3402820G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs764674939	p.Glu237Lys	missense variant	-	NC_000001.11:g.3402823G>A	ExAC,TOPMed,gnomAD
rs764674939	p.Glu237Gln	missense variant	-	NC_000001.11:g.3402823G>C	ExAC,TOPMed,gnomAD
rs1220617517	p.Glu237Asp	missense variant	-	NC_000001.11:g.3402825A>C	gnomAD
rs761381300	p.Leu238Phe	missense variant	-	NC_000001.11:g.3402826C>T	ExAC,TOPMed,gnomAD
rs1323162076	p.Leu238Arg	missense variant	-	NC_000001.11:g.3402827T>G	TOPMed,gnomAD
rs750026615	p.Gln240His	missense variant	-	NC_000001.11:g.3402834G>T	ExAC,TOPMed,gnomAD
rs572205989	p.Ser241Thr	missense variant	-	NC_000001.11:g.3402835T>A	1000Genomes,ExAC,gnomAD
rs1188167348	p.Lys242Glu	missense variant	-	NC_000001.11:g.3402838A>G	gnomAD
rs1474375956	p.Leu243Pro	missense variant	-	NC_000001.11:g.3402842T>C	gnomAD
rs1195275808	p.Leu245Pro	missense variant	-	NC_000001.11:g.3402848T>C	gnomAD
rs558961861	p.Arg246Trp	missense variant	-	NC_000001.11:g.3402850C>T	ExAC,gnomAD
rs754853503	p.Arg246Gln	missense variant	-	NC_000001.11:g.3402851G>A	ExAC,TOPMed,gnomAD
COSM681093	p.Arg247Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402854G>T	NCI-TCGA Cosmic
rs543104292	p.Arg247His	missense variant	-	NC_000001.11:g.3402854G>A	ExAC,gnomAD
rs376853209	p.Arg247Cys	missense variant	-	NC_000001.11:g.3402853C>T	ESP,ExAC,TOPMed,gnomAD
rs1318071396	p.His248Arg	missense variant	-	NC_000001.11:g.3402857A>G	gnomAD
NCI-TCGA novel	p.Lys249Asn	missense variant	-	NC_000001.11:g.3402861G>T	NCI-TCGA
rs541077599	p.Lys249Arg	missense variant	-	NC_000001.11:g.3402860A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs746051051	p.Lys250Glu	missense variant	-	NC_000001.11:g.3402862A>G	ExAC,gnomAD
NCI-TCGA novel	p.Tyr251Asp	missense variant	-	NC_000001.11:g.3402865T>G	NCI-TCGA
rs770148632	p.Thr252Met	missense variant	-	NC_000001.11:g.3402869C>T	ExAC,gnomAD
rs1414206081	p.Gly254Asp	missense variant	-	NC_000001.11:g.3402875G>A	TOPMed
rs1276760887	p.Gly254Ser	missense variant	-	NC_000001.11:g.3402874G>A	gnomAD
rs1162515585	p.Val256Glu	missense variant	-	NC_000001.11:g.3402881T>A	TOPMed
rs1226627634	p.Val256Leu	missense variant	-	NC_000001.11:g.3402880G>T	gnomAD
NCI-TCGA novel	p.Ala258LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.3402882G>-	NCI-TCGA
rs769041652	p.Ala259Val	missense variant	-	NC_000001.11:g.3402890C>T	ExAC,TOPMed,gnomAD
rs762328436	p.Leu260Phe	missense variant	-	NC_000001.11:g.3402892C>T	ExAC,TOPMed,gnomAD
rs762328436	p.Leu260Val	missense variant	-	NC_000001.11:g.3402892C>G	ExAC,TOPMed,gnomAD
COSM3488188	p.Tyr261Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402895T>A	NCI-TCGA Cosmic
rs1440974817	p.Tyr261Cys	missense variant	-	NC_000001.11:g.3402896A>G	TOPMed
rs376469401	p.Glu262Lys	missense variant	-	NC_000001.11:g.3402898G>A	ESP,ExAC,TOPMed,gnomAD
COSM3488190	p.Gly263Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402902G>A	NCI-TCGA Cosmic
rs1478144781	p.Gly263Ser	missense variant	-	NC_000001.11:g.3402901G>A	gnomAD
COSM4932954	p.Leu264Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402905T>A	NCI-TCGA Cosmic
rs1227110445	p.Leu264Val	missense variant	-	NC_000001.11:g.3402904C>G	TOPMed
RCV000651660	p.Ala265Ser	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3402907G>T	ClinVar
rs1553174330	p.Ala265Ser	missense variant	-	NC_000001.11:g.3402907G>T	-
NCI-TCGA novel	p.Glu266Lys	missense variant	-	NC_000001.11:g.3402910G>A	NCI-TCGA
COSM4817528	p.Glu267Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402913G>A	NCI-TCGA Cosmic
rs369972213	p.Glu267Asp	missense variant	-	NC_000001.11:g.3402915G>T	ESP,ExAC,TOPMed,gnomAD
rs1383227153	p.Pro270Ser	missense variant	-	NC_000001.11:g.3402922C>T	gnomAD
COSM414474	p.Glu271Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402925G>C	NCI-TCGA Cosmic
RCV000651665	p.Glu271Lys	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3402925G>A	ClinVar
NCI-TCGA novel	p.Glu271Asp	missense variant	-	NC_000001.11:g.3402927G>T	NCI-TCGA
rs200052869	p.Glu271Lys	missense variant	Cardiomyopathy, dilated 1LL (CMD1LL)	NC_000001.11:g.3402925G>A	UniProt,dbSNP
VAR_070212	p.Glu271Lys	missense variant	Cardiomyopathy, dilated 1LL (CMD1LL)	NC_000001.11:g.3402925G>A	UniProt
rs200052869	p.Glu271Lys	missense variant	-	NC_000001.11:g.3402925G>A	ExAC,TOPMed,gnomAD
rs1365054032	p.Gly272Ser	missense variant	-	NC_000001.11:g.3402928G>A	gnomAD
rs752636134	p.Gly275Ser	missense variant	-	NC_000001.11:g.3402937G>A	ExAC,TOPMed,gnomAD
RCV000442803	p.Gly276Ter	frameshift	-	NC_000001.11:g.3402941del	ClinVar
rs758443711	p.Ser277Arg	missense variant	-	NC_000001.11:g.3402943A>C	ExAC,gnomAD
rs375316181	p.Gly278Ser	missense variant	-	NC_000001.11:g.3402946G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745961678	p.Gly278Val	missense variant	-	NC_000001.11:g.3402947G>T	ExAC,gnomAD
rs770128044	p.Ala280Thr	missense variant	-	NC_000001.11:g.3402952G>A	ExAC,gnomAD
rs1207614341	p.Ala280Gly	missense variant	-	NC_000001.11:g.3402953C>G	gnomAD
rs749586379	p.His281Tyr	missense variant	-	NC_000001.11:g.3402955C>T	ExAC,gnomAD
rs201199516	p.His281Gln	missense variant	-	NC_000001.11:g.3402957C>G	ESP,ExAC,TOPMed,gnomAD
rs201199516	p.His281Gln	missense variant	-	NC_000001.11:g.3402957C>A	ESP,ExAC,TOPMed,gnomAD
rs187351394	p.Glu282Lys	missense variant	-	NC_000001.11:g.3402958G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs772580405	p.Cys283Tyr	missense variant	-	NC_000001.11:g.3402962G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys284Asn	missense variant	-	NC_000001.11:g.3402966G>T	NCI-TCGA
rs1385218971	p.Asp285Glu	missense variant	-	NC_000001.11:g.3402969C>G	gnomAD
rs1295398622	p.Cys286Tyr	missense variant	-	NC_000001.11:g.3402971G>A	gnomAD
rs772692688	p.Cys286Arg	missense variant	-	NC_000001.11:g.3402970T>C	ExAC,gnomAD
rs1391060762	p.Glu287Asp	missense variant	-	NC_000001.11:g.3402975G>C	gnomAD
rs141374404	p.Arg288Gln	missense variant	-	NC_000001.11:g.3402977G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs141374404	p.Arg288Pro	missense variant	-	NC_000001.11:g.3402977G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs529647877	p.Arg288Trp	missense variant	-	NC_000001.11:g.3402976C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000223395	p.Met289Ile	missense variant	-	NC_000001.11:g.3402981G>A	ClinVar
rs765044618	p.Met289Arg	missense variant	-	NC_000001.11:g.3402980T>G	ExAC,TOPMed,gnomAD
rs375991356	p.Met289Ile	missense variant	-	NC_000001.11:g.3402981G>A	ESP,ExAC,TOPMed,gnomAD
rs765044618	p.Met289Thr	missense variant	-	NC_000001.11:g.3402980T>C	ExAC,TOPMed,gnomAD
COSM1341860	p.Phe290Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3402982T>C	NCI-TCGA Cosmic
RCV000054522	p.Pro291Leu	missense variant	Dilated cardiomyopathy 1LL (CMD1LL)	NC_000001.11:g.3402986C>T	ClinVar
rs397514744	p.Pro291Leu	missense variant	-	NC_000001.11:g.3402986C>T	ExAC,TOPMed,gnomAD
rs397514744	p.Pro291Leu	missense variant	Cardiomyopathy, dilated 1LL (CMD1LL)	NC_000001.11:g.3402986C>T	UniProt,dbSNP
VAR_070213	p.Pro291Leu	missense variant	Cardiomyopathy, dilated 1LL (CMD1LL)	NC_000001.11:g.3402986C>T	UniProt
rs369442806	p.Asn292Thr	missense variant	-	NC_000001.11:g.3402989A>C	ESP,ExAC,TOPMed,gnomAD
rs369442806	p.Asn292Ile	missense variant	-	NC_000001.11:g.3402989A>T	ESP,ExAC,TOPMed,gnomAD
rs771349507	p.Glu297Val	missense variant	-	NC_000001.11:g.3404744A>T	ExAC,gnomAD
rs780699187	p.Met300Val	missense variant	-	NC_000001.11:g.3404752A>G	ExAC,gnomAD
rs1304368343	p.Val301Ile	missense variant	-	NC_000001.11:g.3404755G>A	gnomAD
RCV000651653	p.Ile302Val	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3404758A>G	ClinVar
rs745431179	p.Ile302Thr	missense variant	-	NC_000001.11:g.3404759T>C	ExAC,gnomAD
rs1553174650	p.Ile302Val	missense variant	-	NC_000001.11:g.3404758A>G	-
rs906036861	p.His303Gln	missense variant	-	NC_000001.11:g.3404763C>A	TOPMed
rs1001969503	p.Thr304Pro	missense variant	-	NC_000001.11:g.3404764A>C	TOPMed
rs377547823	p.Thr304Met	missense variant	-	NC_000001.11:g.3404765C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu305Lys	missense variant	-	NC_000001.11:g.3404767G>A	NCI-TCGA
rs554846141	p.Glu305Gly	missense variant	-	NC_000001.11:g.3404768A>G	1000Genomes,ExAC,gnomAD
RCV000651666	p.Arg307Cys	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3404773C>T	ClinVar
rs774291082	p.Arg307Cys	missense variant	-	NC_000001.11:g.3404773C>T	ExAC,TOPMed,gnomAD
rs373162966	p.Arg307Leu	missense variant	-	NC_000001.11:g.3404774G>T	ESP,ExAC,TOPMed,gnomAD
rs373162966	p.Arg307His	missense variant	-	NC_000001.11:g.3404774G>A	ESP,ExAC,TOPMed,gnomAD
rs759570043	p.Cys311Arg	missense variant	-	NC_000001.11:g.3404785T>C	ExAC,gnomAD
rs191798831	p.Asp312Tyr	missense variant	-	NC_000001.11:g.3404788G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs191798831	p.Asp312Asn	missense variant	-	NC_000001.11:g.3404788G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1338343369	p.Asn319Ser	missense variant	-	NC_000001.11:g.3404810A>G	TOPMed
rs1271201354	p.Ile325Val	missense variant	-	NC_000001.11:g.3404827A>G	TOPMed
rs757773480	p.Arg326His	missense variant	-	NC_000001.11:g.3404831G>A	ExAC,gnomAD
rs751886479	p.Arg326Cys	missense variant	-	NC_000001.11:g.3404830C>T	ExAC,gnomAD
rs372445366	p.Asp332Tyr	missense variant	-	NC_000001.11:g.3404848G>T	ExAC,TOPMed,gnomAD
rs372445366	p.Asp332Asn	missense variant	-	NC_000001.11:g.3404848G>A	ExAC,TOPMed,gnomAD
rs1053218634	p.Asp332Val	missense variant	-	NC_000001.11:g.3404849A>T	TOPMed
rs911763670	p.Ser333Gly	missense variant	-	NC_000001.11:g.3404851A>G	TOPMed
rs1382162421	p.Gly334Ser	missense variant	-	NC_000001.11:g.3404854G>A	gnomAD
rs1292419618	p.Lys335Arg	missense variant	-	NC_000001.11:g.3404858A>G	gnomAD
rs748880850	p.Arg336Cys	missense variant	-	NC_000001.11:g.3404860C>T	ExAC,gnomAD
rs1220568010	p.Arg336His	missense variant	-	NC_000001.11:g.3404861G>A	TOPMed,gnomAD
rs1238631051	p.Glu338Lys	missense variant	-	NC_000001.11:g.3404866G>A	gnomAD
NCI-TCGA novel	p.Asn341Lys	missense variant	-	NC_000001.11:g.3404877C>G	NCI-TCGA
rs1373495544	p.Val343Met	missense variant	-	NC_000001.11:g.3404881G>A	TOPMed
rs773068904	p.Lys344Thr	missense variant	-	NC_000001.11:g.3404885A>C	ExAC,gnomAD
rs1208561696	p.Val345Met	missense variant	-	NC_000001.11:g.3405495G>A	gnomAD
rs746868217	p.Thr347Met	missense variant	-	NC_000001.11:g.3405502C>T	ExAC,gnomAD
rs1186759293	p.Arg354Trp	missense variant	-	NC_000001.11:g.3405522C>T	gnomAD
rs776595154	p.Arg354Gln	missense variant	-	NC_000001.11:g.3405523G>A	ExAC,gnomAD
NCI-TCGA novel	p.His355Asn	missense variant	-	NC_000001.11:g.3405525C>A	NCI-TCGA
rs768571449	p.Ile356Leu	missense variant	-	NC_000001.11:g.3405528A>C	ExAC,TOPMed,gnomAD
rs1422231314	p.Ile356Asn	missense variant	-	NC_000001.11:g.3405529T>A	gnomAD
rs768571449	p.Ile356Val	missense variant	-	NC_000001.11:g.3405528A>G	ExAC,TOPMed,gnomAD
rs1182753304	p.Arg357His	missense variant	-	NC_000001.11:g.3405532G>A	TOPMed
rs774523031	p.Arg357Cys	missense variant	-	NC_000001.11:g.3405531C>T	ExAC,gnomAD
COSM3865324	p.Ser358Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3405535C>T	NCI-TCGA Cosmic
rs1451316777	p.Ser358Thr	missense variant	-	NC_000001.11:g.3405534T>A	TOPMed
RCV000213682	p.Val361Met	missense variant	-	NC_000001.11:g.3405543G>A	ClinVar
RCV000692775	p.Val361Met	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3405543G>A	ClinVar
rs876657957	p.Val361Met	missense variant	-	NC_000001.11:g.3405543G>A	TOPMed
rs1010446434	p.Val361Ala	missense variant	-	NC_000001.11:g.3405544T>C	TOPMed
rs766969882	p.Gly362Asp	missense variant	-	NC_000001.11:g.3405547G>A	ExAC,TOPMed,gnomAD
rs754343098	p.Ala363Ser	missense variant	-	NC_000001.11:g.3405549G>T	ExAC,TOPMed,gnomAD
rs754343098	p.Ala363Thr	missense variant	-	NC_000001.11:g.3405549G>A	ExAC,TOPMed,gnomAD
rs1277682971	p.Arg364Gln	missense variant	-	NC_000001.11:g.3405553G>A	TOPMed,gnomAD
rs1419881652	p.Arg364Trp	missense variant	-	NC_000001.11:g.3405552C>T	gnomAD
RCV000216650	p.Ala365Ser	missense variant	-	NC_000001.11:g.3405555G>T	ClinVar
rs200562747	p.Ala365Ser	missense variant	-	NC_000001.11:g.3405555G>T	ESP,ExAC,TOPMed,gnomAD
RCV000651655	p.Ala365Ser	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3405555G>T	ClinVar
rs752263127	p.Ala367Ser	missense variant	-	NC_000001.11:g.3405561G>T	ExAC,gnomAD
rs1174168963	p.Ala367Val	missense variant	-	NC_000001.11:g.3405562C>T	gnomAD
rs752263127	p.Ala367Pro	missense variant	-	NC_000001.11:g.3405561G>C	ExAC,gnomAD
rs752263127	p.Ala367Thr	missense variant	-	NC_000001.11:g.3405561G>A	ExAC,gnomAD
rs1199723250	p.Pro369Leu	missense variant	-	NC_000001.11:g.3405568C>T	TOPMed,gnomAD
rs1199723250	p.Pro369His	missense variant	-	NC_000001.11:g.3405568C>A	TOPMed,gnomAD
rs777550737	p.Asp370Glu	missense variant	-	NC_000001.11:g.3405572C>A	ExAC,gnomAD
rs1021620686	p.Gly372Glu	missense variant	-	NC_000001.11:g.3405577G>A	TOPMed
rs745769134	p.Ala376Thr	missense variant	-	NC_000001.11:g.3405588G>A	ExAC,gnomAD
rs1415570581	p.Gly380Asp	missense variant	-	NC_000001.11:g.3405601G>A	gnomAD
rs772150656	p.Gly380Ser	missense variant	-	NC_000001.11:g.3405600G>A	ExAC,gnomAD
COSM4902547	p.Gln383Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3405610A>C	NCI-TCGA Cosmic
rs1358708702	p.Ile387Val	missense variant	-	NC_000001.11:g.3405621A>G	gnomAD
rs771381295	p.Val391Met	missense variant	-	NC_000001.11:g.3405633G>A	ExAC,gnomAD
rs1272877888	p.Lys392Asn	missense variant	-	NC_000001.11:g.3405638G>T	gnomAD
NCI-TCGA novel	p.Pro393Leu	missense variant	-	NC_000001.11:g.3405640C>T	NCI-TCGA
NCI-TCGA novel	p.Pro393His	missense variant	-	NC_000001.11:g.3405640C>A	NCI-TCGA
rs1364504688	p.Ile395Leu	missense variant	-	NC_000001.11:g.3405645A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Cys396Phe	missense variant	-	NC_000001.11:g.3411384G>T	NCI-TCGA
rs1480697001	p.Val398Leu	missense variant	-	NC_000001.11:g.3411389G>C	gnomAD
NCI-TCGA novel	p.Lys401Asn	missense variant	-	NC_000001.11:g.3411400G>C	NCI-TCGA
NCI-TCGA novel	p.Thr404Met	missense variant	-	NC_000001.11:g.3411408C>T	NCI-TCGA
rs1448923535	p.Met415Lys	missense variant	-	NC_000001.11:g.3411441T>A	gnomAD
COSM414472	p.Ala417Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411446G>A	NCI-TCGA Cosmic
rs781605949	p.Asp418Asn	missense variant	-	NC_000001.11:g.3411449G>A	ExAC,gnomAD
rs746196584	p.Cys419Tyr	missense variant	-	NC_000001.11:g.3411453G>A	ExAC,gnomAD
rs752753184	p.Arg420Leu	missense variant	-	NC_000001.11:g.3411456G>T	ExAC,TOPMed,gnomAD
rs752753184	p.Arg420His	missense variant	-	NC_000001.11:g.3411456G>A	ExAC,TOPMed,gnomAD
rs551202646	p.Asp427Glu	missense variant	-	NC_000001.11:g.3411478C>G	1000Genomes,ExAC,gnomAD
rs749740251	p.Gly429Asp	missense variant	-	NC_000001.11:g.3411483G>A	ExAC,gnomAD
rs769167530	p.Met431Lys	missense variant	-	NC_000001.11:g.3411489T>A	ExAC,gnomAD
rs1238758782	p.Ser433Gly	missense variant	-	NC_000001.11:g.3411494A>G	TOPMed
rs1160095672	p.Thr434Asn	missense variant	-	NC_000001.11:g.3411498C>A	gnomAD
rs773840841	p.Thr434Ala	missense variant	-	NC_000001.11:g.3411497A>G	ExAC,gnomAD
rs1189754262	p.Thr435Ile	missense variant	-	NC_000001.11:g.3411501C>T	gnomAD
RCV000414577	p.Arg442Gln	missense variant	-	NC_000001.11:g.3411522G>A	ClinVar
RCV000793035	p.Arg442Gln	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411522G>A	ClinVar
rs760272889	p.Arg442Gln	missense variant	-	NC_000001.11:g.3411522G>A	ExAC,TOPMed,gnomAD
rs772868294	p.Arg442Trp	missense variant	-	NC_000001.11:g.3411521C>T	ExAC,gnomAD
RCV000497461	p.Arg443His	missense variant	-	NC_000001.11:g.3411525G>A	ClinVar
rs1313622926	p.Arg443His	missense variant	-	NC_000001.11:g.3411525G>A	TOPMed
NCI-TCGA novel	p.Phe444Val	missense variant	-	NC_000001.11:g.3411527T>G	NCI-TCGA
rs754951137	p.Glu446Lys	missense variant	-	NC_000001.11:g.3411533G>A	ExAC,gnomAD
rs1217634741	p.Lys448Arg	missense variant	-	NC_000001.11:g.3411540A>G	gnomAD
rs1403464335	p.Lys448Glu	missense variant	-	NC_000001.11:g.3411539A>G	TOPMed,gnomAD
rs751661453	p.His450Asn	missense variant	-	NC_000001.11:g.3411545C>A	ExAC,gnomAD
rs757463466	p.Tyr451His	missense variant	-	NC_000001.11:g.3411548T>C	ExAC,TOPMed,gnomAD
rs781154573	p.Thr452Met	missense variant	-	NC_000001.11:g.3411552C>T	ExAC,TOPMed,gnomAD
rs780411229	p.Pro453Ser	missense variant	-	NC_000001.11:g.3411554C>T	ExAC,gnomAD
rs1202650948	p.Pro453Leu	missense variant	-	NC_000001.11:g.3411555C>T	gnomAD
NCI-TCGA novel	p.Gly454Cys	missense variant	-	NC_000001.11:g.3411557G>T	NCI-TCGA
rs1487965698	p.Gly454Ser	missense variant	-	NC_000001.11:g.3411557G>A	gnomAD
rs536908705	p.Gly455Ser	missense variant	-	NC_000001.11:g.3411560G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000821989	p.Gly455Ser	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411560G>A	ClinVar
rs748673433	p.Ile456Val	missense variant	-	NC_000001.11:g.3411563A>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe457Leu	missense variant	-	NC_000001.11:g.3411568T>G	NCI-TCGA
RCV000519018	p.Phe457Ser	missense variant	-	NC_000001.11:g.3411567T>C	ClinVar
rs1170937669	p.Phe457Ser	missense variant	-	NC_000001.11:g.3411567T>C	gnomAD
NCI-TCGA novel	p.Ala458Asp	missense variant	-	NC_000001.11:g.3411570C>A	NCI-TCGA
rs772601418	p.Ala458Val	missense variant	-	NC_000001.11:g.3411570C>T	ExAC,gnomAD
rs771526725	p.Ala458Pro	missense variant	-	NC_000001.11:g.3411569G>C	ExAC,gnomAD
rs760316824	p.Pro459Ser	missense variant	-	NC_000001.11:g.3411572C>T	ExAC,gnomAD
rs766003870	p.Pro459Leu	missense variant	-	NC_000001.11:g.3411573C>T	ExAC,TOPMed,gnomAD
rs1038838939	p.Gly460Asp	missense variant	-	NC_000001.11:g.3411576G>A	TOPMed,gnomAD
rs1342030569	p.Gly460Ser	missense variant	-	NC_000001.11:g.3411575G>A	gnomAD
rs1038838939	p.Gly460Ala	missense variant	-	NC_000001.11:g.3411576G>C	TOPMed,gnomAD
COSM1341874	p.Pro462Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411581C>T	NCI-TCGA Cosmic
rs546992141	p.Pro462Thr	missense variant	-	NC_000001.11:g.3411581C>A	1000Genomes,ExAC,gnomAD
rs752633976	p.Thr464Asn	missense variant	-	NC_000001.11:g.3411588C>A	ExAC,gnomAD
rs752633976	p.Thr464Ile	missense variant	-	NC_000001.11:g.3411588C>T	ExAC,gnomAD
RCV000459138	p.Pro465Ala	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411590C>G	ClinVar
rs763015619	p.Pro465Ser	missense variant	-	NC_000001.11:g.3411590C>T	ExAC,TOPMed,gnomAD
rs767571135	p.Pro465Leu	missense variant	-	NC_000001.11:g.3411591C>T	ExAC,gnomAD
rs763015619	p.Pro465Ala	missense variant	-	NC_000001.11:g.3411590C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser466AlaPheSerTerUnk	frameshift	-	NC_000001.11:g.3411588C>-	NCI-TCGA
rs376891320	p.Ser466Ile	missense variant	-	NC_000001.11:g.3411594G>T	ESP,ExAC,TOPMed,gnomAD
rs376891320	p.Ser466Asn	missense variant	-	NC_000001.11:g.3411594G>A	ESP,ExAC,TOPMed,gnomAD
rs370407029	p.Pro467Ser	missense variant	-	NC_000001.11:g.3411596C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1030763525	p.Met468Thr	missense variant	-	NC_000001.11:g.3411600T>C	TOPMed,gnomAD
rs1030763525	p.Met468Arg	missense variant	-	NC_000001.11:g.3411600T>G	TOPMed,gnomAD
rs759284712	p.Met469Thr	missense variant	-	NC_000001.11:g.3411603T>C	TOPMed
rs759284712	p.Met469Lys	missense variant	-	NC_000001.11:g.3411603T>A	TOPMed
rs1486335994	p.Met469Ile	missense variant	-	NC_000001.11:g.3411604G>A	gnomAD
rs1190783586	p.Asp470His	missense variant	-	NC_000001.11:g.3411605G>C	gnomAD
rs780210180	p.Lys471Gln	missense variant	-	NC_000001.11:g.3411608A>C	ExAC,gnomAD
rs994598161	p.Ala472Val	missense variant	-	NC_000001.11:g.3411612C>T	TOPMed
rs754177610	p.Pro474Ala	missense variant	-	NC_000001.11:g.3411617C>G	ExAC,gnomAD
rs755283217	p.Ser475Pro	missense variant	-	NC_000001.11:g.3411620T>C	ExAC
rs188908415	p.Pro476Ser	missense variant	-	NC_000001.11:g.3411623C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000474106	p.Pro476Ser	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411623C>T	ClinVar
rs748583430	p.Asn479Thr	missense variant	-	NC_000001.11:g.3411633A>C	ExAC,TOPMed,gnomAD
rs748583430	p.Asn479Ser	missense variant	-	NC_000001.11:g.3411633A>G	ExAC,TOPMed,gnomAD
rs777323102	p.His480Gln	missense variant	-	NC_000001.11:g.3411637C>A	ExAC,TOPMed,gnomAD
rs377240759	p.Ala481Thr	missense variant	-	NC_000001.11:g.3411638G>A	ESP,ExAC,TOPMed,gnomAD
rs377240759	p.Ala481Ser	missense variant	-	NC_000001.11:g.3411638G>T	ESP,ExAC,TOPMed,gnomAD
COSM681088	p.Gly484Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411648G>T	NCI-TCGA Cosmic
rs1365047497	p.Phe485Leu	missense variant	-	NC_000001.11:g.3411650T>C	TOPMed,gnomAD
rs370386474	p.Asn486Lys	missense variant	-	NC_000001.11:g.3411655C>A	ESP,ExAC,TOPMed,gnomAD
rs769672374	p.Asn486Ser	missense variant	-	NC_000001.11:g.3411654A>G	ExAC,gnomAD
RCV000489128	p.Glu487Ter	frameshift	-	NC_000001.11:g.3411656del	ClinVar
rs1288282760	p.Glu487Lys	missense variant	-	NC_000001.11:g.3411656G>A	TOPMed,gnomAD
COSM3488216	p.Pro490Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411665C>T	NCI-TCGA Cosmic
COSM3488217	p.Pro490Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411666C>T	NCI-TCGA Cosmic
COSM3488218	p.Ser491Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411669C>T	NCI-TCGA Cosmic
rs12061858	p.Arg492Lys	missense variant	-	NC_000001.11:g.3411672G>A	TOPMed,gnomAD
rs368384353	p.Pro493Arg	missense variant	-	NC_000001.11:g.3411675C>G	ESP,ExAC,gnomAD
rs368384353	p.Pro493Leu	missense variant	-	NC_000001.11:g.3411675C>T	ESP,ExAC,gnomAD
RCV000558278	p.His494Pro	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411678A>C	ClinVar
rs755193238	p.His494Gln	missense variant	-	NC_000001.11:g.3411679C>G	ExAC,TOPMed,gnomAD
RCV000537432	p.His494Gln	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411679C>G	ClinVar
rs754016475	p.His494Pro	missense variant	-	NC_000001.11:g.3411678A>C	ExAC,gnomAD
rs779190595	p.Pro495Gln	missense variant	-	NC_000001.11:g.3411681C>A	ExAC,TOPMed,gnomAD
rs779190595	p.Pro495Leu	missense variant	-	NC_000001.11:g.3411681C>T	ExAC,TOPMed,gnomAD
rs1366518929	p.Ser497Asn	missense variant	-	NC_000001.11:g.3411687G>A	gnomAD
rs758937404	p.Ser497Arg	missense variant	-	NC_000001.11:g.3411688C>G	ExAC,gnomAD
RCV000549933	p.Pro499Ser	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411692C>T	ClinVar
rs1553176454	p.Pro499Ser	missense variant	-	NC_000001.11:g.3411692C>T	-
rs778182875	p.Thr502Met	missense variant	-	NC_000001.11:g.3411702C>T	ExAC,TOPMed,gnomAD
rs1012036612	p.Ala503Val	missense variant	-	NC_000001.11:g.3411705C>T	gnomAD
rs1399965437	p.Pro504Thr	missense variant	-	NC_000001.11:g.3411707C>A	gnomAD
rs780880344	p.Pro505Ser	missense variant	-	NC_000001.11:g.3411710C>T	ExAC,TOPMed,gnomAD
RCV000611633	p.Thr506Met	missense variant	-	NC_000001.11:g.3411714C>T	ClinVar
rs368543415	p.Thr506Met	missense variant	-	NC_000001.11:g.3411714C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe507Val	missense variant	-	NC_000001.11:g.3411716T>G	NCI-TCGA
rs981777423	p.Phe507Leu	missense variant	-	NC_000001.11:g.3411718C>G	TOPMed,gnomAD
rs374937969	p.Ala509Thr	missense variant	-	NC_000001.11:g.3411722G>A	ESP,ExAC,TOPMed,gnomAD
rs768610114	p.Thr511Asn	missense variant	-	NC_000001.11:g.3411729C>A	ExAC,gnomAD
rs1243242023	p.Pro512Thr	missense variant	-	NC_000001.11:g.3411731C>A	gnomAD
rs1457100796	p.Pro512Leu	missense variant	-	NC_000001.11:g.3411732C>T	gnomAD
COSM1341877	p.Gly513AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3411729C>-	NCI-TCGA Cosmic
rs200278862	p.Gly513Ser	missense variant	-	NC_000001.11:g.3411734G>A	ExAC,TOPMed,gnomAD
RCV000228195	p.Gly513Ser	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411734G>A	ClinVar
RCV000786195	p.Gly513Ser	missense variant	-	NC_000001.11:g.3411734G>A	ClinVar
rs909378089	p.Pro515Leu	missense variant	-	NC_000001.11:g.3411741C>T	TOPMed
rs776701724	p.Gly516Val	missense variant	-	NC_000001.11:g.3411744G>T	ExAC,gnomAD
rs759740047	p.Ile517Phe	missense variant	-	NC_000001.11:g.3411746A>T	ExAC,TOPMed,gnomAD
rs759740047	p.Ile517Val	missense variant	-	NC_000001.11:g.3411746A>G	ExAC,TOPMed,gnomAD
rs1405615150	p.Phe518Leu	missense variant	-	NC_000001.11:g.3411751C>G	TOPMed
NCI-TCGA novel	p.Phe518Tyr	missense variant	-	NC_000001.11:g.3411750T>A	NCI-TCGA
rs1405615150	p.Phe518Leu	missense variant	-	NC_000001.11:g.3411751C>A	TOPMed
rs753027800	p.Phe518Ser	missense variant	-	NC_000001.11:g.3411750T>C	ExAC,gnomAD
rs1464457654	p.Pro519Leu	missense variant	-	NC_000001.11:g.3411753C>T	TOPMed,gnomAD
rs758737732	p.Pro519Ser	missense variant	-	NC_000001.11:g.3411752C>T	ExAC,gnomAD
rs1464457654	p.Pro519Arg	missense variant	-	NC_000001.11:g.3411753C>G	TOPMed,gnomAD
COSM3488221	p.Pro520Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411756C>T	NCI-TCGA Cosmic
COSM3488222	p.Ser521Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411759C>T	NCI-TCGA Cosmic
rs764542884	p.Ser521Cys	missense variant	-	NC_000001.11:g.3411759C>G	ExAC,gnomAD
rs764542884	p.Ser521Tyr	missense variant	-	NC_000001.11:g.3411759C>A	ExAC,gnomAD
RCV000602794	p.Leu522Phe	missense variant	-	NC_000001.11:g.3411763G>T	ClinVar
rs554705536	p.Leu522Phe	missense variant	-	NC_000001.11:g.3411763G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000526217	p.Leu522Phe	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411763G>T	ClinVar
rs1301188541	p.Tyr523Ser	missense variant	-	NC_000001.11:g.3411765A>C	gnomAD
NCI-TCGA novel	p.Pro524His	missense variant	-	NC_000001.11:g.3411768C>A	NCI-TCGA
RCV000694897	p.Arg525Gln	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411771G>A	ClinVar
RCV000213365	p.Arg525Gln	missense variant	-	NC_000001.11:g.3411771G>A	ClinVar
RCV000365162	p.Arg525Ter	frameshift	-	NC_000001.11:g.3411770dup	ClinVar
rs369644938	p.Arg525Trp	missense variant	-	NC_000001.11:g.3411770C>T	ESP,ExAC,TOPMed,gnomAD
rs373011563	p.Arg525Leu	missense variant	-	NC_000001.11:g.3411771G>T	ESP,ExAC,TOPMed,gnomAD
rs373011563	p.Arg525Gln	missense variant	-	NC_000001.11:g.3411771G>A	ESP,ExAC,TOPMed,gnomAD
rs1212640513	p.Pro526Leu	missense variant	-	NC_000001.11:g.3411774C>T	TOPMed,gnomAD
rs1438359202	p.Pro527Leu	missense variant	-	NC_000001.11:g.3411777C>T	gnomAD
NCI-TCGA novel	p.Leu528Gln	missense variant	-	NC_000001.11:g.3411780T>A	NCI-TCGA
rs1442870549	p.Leu529Pro	missense variant	-	NC_000001.11:g.3411783T>C	TOPMed,gnomAD
rs1479270217	p.Pro531Leu	missense variant	-	NC_000001.11:g.3411789C>T	TOPMed
RCV000217271	p.Ser533Pro	missense variant	-	NC_000001.11:g.3411794T>C	ClinVar
rs870124	p.Ser533Pro	missense variant	-	NC_000001.11:g.3411794T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs870124	p.Ser533Pro	missense variant	-	NC_000001.11:g.3411794T>C	UniProt,dbSNP
VAR_031433	p.Ser533Pro	missense variant	-	NC_000001.11:g.3411794T>C	UniProt
rs870124	p.Ser533Ala	missense variant	-	NC_000001.11:g.3411794T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs540487766	p.Ser533Leu	missense variant	-	NC_000001.11:g.3411795C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1188025398	p.Leu534Pro	missense variant	-	NC_000001.11:g.3411798T>C	gnomAD
rs1157627074	p.Leu534Met	missense variant	-	NC_000001.11:g.3411797C>A	TOPMed
NCI-TCGA novel	p.Lys536Ter	stop gained	-	NC_000001.11:g.3411803A>T	NCI-TCGA
rs1476625243	p.Pro538Ser	missense variant	-	NC_000001.11:g.3411809C>T	gnomAD
rs1420621413	p.Leu539Val	missense variant	-	NC_000001.11:g.3411812C>G	gnomAD
rs1305062776	p.His541Pro	missense variant	-	NC_000001.11:g.3411819A>C	TOPMed
rs573253046	p.Thr542Ile	missense variant	-	NC_000001.11:g.3411822C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs573253046	p.Thr542Asn	missense variant	-	NC_000001.11:g.3411822C>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM4031532	p.Asp544Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411827G>A	NCI-TCGA Cosmic
rs199499877	p.Asp544Glu	missense variant	-	NC_000001.11:g.3411829C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765421823	p.Asp544Gly	missense variant	-	NC_000001.11:g.3411828A>G	ExAC,TOPMed,gnomAD
rs763268700	p.Ala545Thr	missense variant	-	NC_000001.11:g.3411830G>A	ExAC,gnomAD
rs764298394	p.Lys546Thr	missense variant	-	NC_000001.11:g.3411834A>C	ExAC,gnomAD
RCV000656215	p.Pro548Thr	missense variant	Wolff-Parkinson-White pattern	NC_000001.11:g.3411839C>A	ClinVar
rs866090726	p.Pro548Thr	missense variant	-	NC_000001.11:g.3411839C>A	gnomAD
rs866090726	p.Pro548Ser	missense variant	-	NC_000001.11:g.3411839C>T	gnomAD
rs751967400	p.Pro550Ser	missense variant	-	NC_000001.11:g.3411845C>T	ExAC,gnomAD
rs1023442746	p.Pro550Leu	missense variant	-	NC_000001.11:g.3411846C>T	gnomAD
COSM1341882	p.Asn553GluPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3411849_3411850insG	NCI-TCGA Cosmic
rs1331468669	p.Asn553Ser	missense variant	-	NC_000001.11:g.3411855A>G	gnomAD
rs1261779350	p.Leu558Pro	missense variant	-	NC_000001.11:g.3411870T>C	gnomAD
NCI-TCGA novel	p.Val559Gly	missense variant	-	NC_000001.11:g.3411873T>G	NCI-TCGA
rs1444958560	p.Val559Ile	missense variant	-	NC_000001.11:g.3411872G>A	gnomAD
rs1383131707	p.Ser560Cys	missense variant	-	NC_000001.11:g.3411876C>G	gnomAD
rs748041218	p.Ala561Thr	missense variant	-	NC_000001.11:g.3411878G>A	ExAC,gnomAD
rs150395260	p.Val562Ile	missense variant	-	NC_000001.11:g.3411881G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000223463	p.Val562Ile	missense variant	-	NC_000001.11:g.3411881G>A	ClinVar
rs1177160922	p.Gln567Lys	missense variant	-	NC_000001.11:g.3411896C>A	TOPMed
rs763028317	p.Gly568Ser	missense variant	-	NC_000001.11:g.3411899G>A	ExAC,TOPMed,gnomAD
RCV000766606	p.Thr569Met	missense variant	-	NC_000001.11:g.3411903C>T	ClinVar
rs200647136	p.Thr569Lys	missense variant	-	NC_000001.11:g.3411903C>A	ESP,ExAC,TOPMed,gnomAD
RCV000489145	p.Thr569Met	missense variant	-	NC_000001.11:g.3411903C>T	ClinVar
rs200647136	p.Thr569Met	missense variant	-	NC_000001.11:g.3411903C>T	ESP,ExAC,TOPMed,gnomAD
RCV000526833	p.Thr570Met	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411906C>T	ClinVar
rs138655327	p.Thr570Lys	missense variant	-	NC_000001.11:g.3411906C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs138655327	p.Thr570Met	missense variant	-	NC_000001.11:g.3411906C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs750914621	p.Ala572Asp	missense variant	-	NC_000001.11:g.3411912C>A	ExAC,gnomAD
rs1032510351	p.Ala573Val	missense variant	-	NC_000001.11:g.3411915C>T	TOPMed,gnomAD
COSM6126081	p.Gly574Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411917G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly574Val	missense variant	-	NC_000001.11:g.3411918G>T	NCI-TCGA
rs201517929	p.Glu576Lys	missense variant	-	NC_000001.11:g.3411923G>A	ESP,ExAC,TOPMed,gnomAD
RCV000494613	p.Glu576Lys	missense variant	-	NC_000001.11:g.3411923G>A	ClinVar
rs752409913	p.Lys578Arg	missense variant	-	NC_000001.11:g.3411930A>G	ExAC,gnomAD
COSM4031533	p.Phe579Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3411934C>G	NCI-TCGA Cosmic
rs371024796	p.Glu580Lys	missense variant	-	NC_000001.11:g.3411935G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1196310944	p.Ser581Asn	missense variant	-	NC_000001.11:g.3411939G>A	TOPMed
RCV000595339	p.Arg582His	missense variant	-	NC_000001.11:g.3411942G>A	ClinVar
RCV000552825	p.Arg582His	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411942G>A	ClinVar
rs374451451	p.Arg582Cys	missense variant	-	NC_000001.11:g.3411941C>T	ESP,ExAC,TOPMed,gnomAD
rs529401311	p.Arg582His	missense variant	-	NC_000001.11:g.3411942G>A	ExAC,TOPMed,gnomAD
rs1367227387	p.Leu583Val	missense variant	-	NC_000001.11:g.3411944C>G	TOPMed
NCI-TCGA novel	p.Glu584Asp	missense variant	-	NC_000001.11:g.3411949G>T	NCI-TCGA
rs1471230869	p.Asp585Glu	missense variant	-	NC_000001.11:g.3411952C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser586Pro	missense variant	-	NC_000001.11:g.3411953T>C	NCI-TCGA
rs1159210644	p.Cys587Ser	missense variant	-	NC_000001.11:g.3411957G>C	gnomAD
rs768733228	p.Val588Met	missense variant	-	NC_000001.11:g.3411959G>A	ExAC,TOPMed,gnomAD
rs1330908212	p.Glu589Lys	missense variant	-	NC_000001.11:g.3411962G>A	TOPMed
rs774686539	p.Lys590Arg	missense variant	-	NC_000001.11:g.3411966A>G	ExAC,TOPMed,gnomAD
RCV000651654	p.Arg594Gly	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3411977A>G	ClinVar
rs773722995	p.Arg594Thr	missense variant	-	NC_000001.11:g.3411978G>C	ExAC,TOPMed,gnomAD
rs371292826	p.Arg594Gly	missense variant	-	NC_000001.11:g.3411977A>G	ExAC,TOPMed,gnomAD
rs1427902958	p.Ser595Asn	missense variant	-	NC_000001.11:g.3411981G>A	gnomAD
rs753255714	p.Asp597His	missense variant	-	NC_000001.11:g.3411986G>C	ExAC,TOPMed,gnomAD
rs764675702	p.Asp597Glu	missense variant	-	NC_000001.11:g.3411988C>A	ExAC,TOPMed,gnomAD
rs753255714	p.Asp597Asn	missense variant	-	NC_000001.11:g.3411986G>A	ExAC,TOPMed,gnomAD
rs199657886	p.Met598Ile	missense variant	-	NC_000001.11:g.3411991G>A	ExAC,TOPMed,gnomAD
rs1257030350	p.Met598Thr	missense variant	-	NC_000001.11:g.3411990T>C	TOPMed
rs752353194	p.Met598Leu	missense variant	-	NC_000001.11:g.3411989A>C	ExAC,TOPMed,gnomAD
rs752353194	p.Met598Val	missense variant	-	NC_000001.11:g.3411989A>G	ExAC,TOPMed,gnomAD
rs367734333	p.Ser599Leu	missense variant	-	NC_000001.11:g.3411993C>T	ESP,ExAC,TOPMed,gnomAD
rs773915002	p.Gly601Ser	missense variant	-	NC_000001.11:g.3411998G>A	ExAC,TOPMed,gnomAD
rs199984813	p.Asp603Asn	missense variant	-	NC_000001.11:g.3412004G>A	ESP,ExAC,TOPMed,gnomAD
RCV000541556	p.Val607PheIle	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412016_3412020delinsTTCAT	ClinVar
rs773704725	p.Val607Ile	missense variant	-	NC_000001.11:g.3412016G>A	ExAC,TOPMed,gnomAD
rs866882253	p.Val607Ala	missense variant	-	NC_000001.11:g.3412017T>C	TOPMed,gnomAD
rs1553176630	p.ValAsn607PheIle	missense variant	-	NC_000001.11:g.3412016_3412020delinsTTCAT	-
rs773704725	p.Val607Phe	missense variant	-	NC_000001.11:g.3412016G>T	ExAC,TOPMed,gnomAD
rs1330389939	p.Asn608Asp	missense variant	-	NC_000001.11:g.3412019A>G	gnomAD
rs1394308404	p.Asn608Ser	missense variant	-	NC_000001.11:g.3412020A>G	gnomAD
rs1328982704	p.Thr609Ile	missense variant	-	NC_000001.11:g.3412023C>T	TOPMed,gnomAD
rs1231085914	p.Thr610Ile	missense variant	-	NC_000001.11:g.3412026C>T	TOPMed,gnomAD
rs200936355	p.Thr611Met	missense variant	-	NC_000001.11:g.3412029C>T	ESP,ExAC,TOPMed,gnomAD
rs375535578	p.Thr611Ala	missense variant	-	NC_000001.11:g.3412028A>G	ESP,TOPMed
rs777145190	p.Gly612Arg	missense variant	-	NC_000001.11:g.3412031G>A	ExAC,TOPMed,gnomAD
rs764738323	p.Asp614Asn	missense variant	-	NC_000001.11:g.3412037G>A	ExAC,TOPMed,gnomAD
rs774994985	p.Asp614Glu	missense variant	-	NC_000001.11:g.3412039C>A	ExAC,gnomAD
rs762582818	p.Leu615Val	missense variant	-	NC_000001.11:g.3412040C>G	ExAC,gnomAD
rs763805297	p.Leu615Gln	missense variant	-	NC_000001.11:g.3412041T>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp616Tyr	missense variant	-	NC_000001.11:g.3412043G>T	NCI-TCGA
rs757127206	p.Asp616Gly	missense variant	-	NC_000001.11:g.3412044A>G	ExAC,gnomAD
rs751328307	p.Asp616Asn	missense variant	-	NC_000001.11:g.3412043G>A	ExAC,gnomAD
rs767242607	p.Thr617Met	missense variant	-	NC_000001.11:g.3412047C>T	ExAC,TOPMed,gnomAD
RCV000498119	p.Thr617Met	missense variant	-	NC_000001.11:g.3412047C>T	ClinVar
COSM1341884	p.Thr618Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412049A>G	NCI-TCGA Cosmic
rs756015827	p.Thr619Met	missense variant	-	NC_000001.11:g.3412053C>T	ExAC,TOPMed,gnomAD
rs201912252	p.Thr621Met	missense variant	-	NC_000001.11:g.3412059C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1314142023	p.Gly622Asp	missense variant	-	NC_000001.11:g.3412062G>A	gnomAD
rs1314142023	p.Gly622Ala	missense variant	-	NC_000001.11:g.3412062G>C	gnomAD
rs758659393	p.Ser623Leu	missense variant	-	NC_000001.11:g.3412065C>T	ExAC,TOPMed,gnomAD
COSM6062969	p.Asp624Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412067G>T	NCI-TCGA Cosmic
COSM6063398	p.Asp624His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412067G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp624Asn	missense variant	-	NC_000001.11:g.3412067G>A	NCI-TCGA
COSM257800	p.Leu625Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412070C>A	NCI-TCGA Cosmic
rs747255671	p.Leu625Pro	missense variant	-	NC_000001.11:g.3412071T>C	ExAC,TOPMed,gnomAD
RCV000217585	p.Asp626Val	missense variant	-	NC_000001.11:g.3412074A>T	ClinVar
rs876657958	p.Asp626Val	missense variant	-	NC_000001.11:g.3412074A>T	gnomAD
rs746328459	p.Ser627Arg	missense variant	-	NC_000001.11:g.3412078C>A	ExAC,TOPMed,gnomAD
RCV000466162	p.Asp628Asn	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412079G>A	ClinVar
rs199895459	p.Asp628Asn	missense variant	-	NC_000001.11:g.3412079G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs568518616	p.Val629Met	missense variant	-	NC_000001.11:g.3412082G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs773945570	p.Asp630Asn	missense variant	-	NC_000001.11:g.3412085G>A	ExAC,gnomAD
rs1259412089	p.Asp630Glu	missense variant	-	NC_000001.11:g.3412087C>A	gnomAD
rs767279028	p.Asp632Asn	missense variant	-	NC_000001.11:g.3412091G>A	ExAC,TOPMed,gnomAD
RCV000221571	p.Pro633Leu	missense variant	-	NC_000001.11:g.3412095C>T	ClinVar
rs2493292	p.Pro633Leu	missense variant	-	NC_000001.11:g.3412095C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766456696	p.Asp634Gly	missense variant	-	NC_000001.11:g.3412098A>G	ExAC
NCI-TCGA novel	p.Lys635Arg	missense variant	-	NC_000001.11:g.3412101A>G	NCI-TCGA
rs1292651999	p.Lys635Gln	missense variant	-	NC_000001.11:g.3412100A>C	TOPMed
NCI-TCGA novel	p.Asp636His	missense variant	-	NC_000001.11:g.3412103G>C	NCI-TCGA
rs752799586	p.Asp636Gly	missense variant	-	NC_000001.11:g.3412104A>G	ExAC,TOPMed,gnomAD
rs1490850839	p.Asp636Asn	missense variant	-	NC_000001.11:g.3412103G>A	TOPMed
rs1394443305	p.Gly640Ser	missense variant	-	NC_000001.11:g.3412115G>A	gnomAD
rs1432756595	p.Lys641Glu	missense variant	-	NC_000001.11:g.3412118A>G	gnomAD
rs778028723	p.Lys641Asn	missense variant	-	NC_000001.11:g.3412120G>C	ExAC,TOPMed,gnomAD
rs758502733	p.Lys641Arg	missense variant	-	NC_000001.11:g.3412119A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala643Ser	missense variant	-	NC_000001.11:g.3412124G>T	NCI-TCGA
rs554385722	p.Ala643Thr	missense variant	-	NC_000001.11:g.3412124G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000431315	p.Glu644Lys	missense variant	-	NC_000001.11:g.3412127G>A	ClinVar
rs61756438	p.Glu644Lys	missense variant	-	NC_000001.11:g.3412127G>A	ESP,ExAC,TOPMed,gnomAD
rs61756438	p.Glu644Gln	missense variant	-	NC_000001.11:g.3412127G>C	ESP,ExAC,TOPMed,gnomAD
rs1300993744	p.Gly645Val	missense variant	-	NC_000001.11:g.3412131G>T	gnomAD
COSM3488224	p.Gly650Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412145G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly650Ala	missense variant	-	NC_000001.11:g.3412146G>C	NCI-TCGA
NCI-TCGA novel	p.Gly651AlaPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.3412145G>-	NCI-TCGA
RCV000651659	p.Gly651Ser	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412148G>A	ClinVar
rs770305450	p.Gly651Ser	missense variant	-	NC_000001.11:g.3412148G>A	ExAC,TOPMed,gnomAD
rs376706452	p.Gly652Ser	missense variant	-	NC_000001.11:g.3412151G>A	ESP,ExAC,TOPMed,gnomAD
rs371011963	p.Leu653Ser	missense variant	-	NC_000001.11:g.3412155T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1213712892	p.Leu653Val	missense variant	-	NC_000001.11:g.3412154T>G	gnomAD
rs761510450	p.Leu653Phe	missense variant	-	NC_000001.11:g.3412156G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala654Ser	missense variant	-	NC_000001.11:g.3412157G>T	NCI-TCGA
rs771684634	p.Ala654Val	missense variant	-	NC_000001.11:g.3412158C>T	ExAC,TOPMed,gnomAD
RCV000523550	p.Ala654Val	missense variant	-	NC_000001.11:g.3412158C>T	ClinVar
rs760432567	p.Pro656Leu	missense variant	-	NC_000001.11:g.3412164C>T	ExAC,TOPMed,gnomAD
COSM6126596	p.Gly657Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412166G>T	NCI-TCGA Cosmic
rs1395601957	p.Gly657Arg	missense variant	-	NC_000001.11:g.3412166G>C	TOPMed,gnomAD
rs760438677	p.Ala658Thr	missense variant	-	NC_000001.11:g.3412169G>A	ExAC,TOPMed,gnomAD
rs760438677	p.Ala658Pro	missense variant	-	NC_000001.11:g.3412169G>C	ExAC,TOPMed,gnomAD
RCV000462349	p.Ala658Pro	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412169G>C	ClinVar
rs533776622	p.Pro659Leu	missense variant	-	NC_000001.11:g.3412173C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1481102666	p.Asn660Lys	missense variant	-	NC_000001.11:g.3412177C>G	TOPMed
rs1453953544	p.Ser661Gly	missense variant	-	NC_000001.11:g.3412178A>G	TOPMed,gnomAD
RCV000529750	p.Val662Met	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412181G>A	ClinVar
rs1016599754	p.Val662Met	missense variant	-	NC_000001.11:g.3412181G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala663Ser	missense variant	-	NC_000001.11:g.3412184G>T	NCI-TCGA
rs377688111	p.Ala663Val	missense variant	-	NC_000001.11:g.3412185C>T	ESP,TOPMed,gnomAD
RCV000627596	p.Glu664Ter	frameshift	-	NC_000001.11:g.3412186del	ClinVar
rs763938877	p.Glu664Lys	missense variant	-	NC_000001.11:g.3412187G>A	ExAC,gnomAD
rs781311082	p.Val665Met	missense variant	-	NC_000001.11:g.3412190G>A	ExAC,gnomAD
rs756425455	p.Val667Ile	missense variant	-	NC_000001.11:g.3412196G>A	ExAC,TOPMed,gnomAD
rs1467018922	p.Phe668Tyr	missense variant	-	NC_000001.11:g.3412200T>A	gnomAD
rs1215332192	p.Phe668Leu	missense variant	-	NC_000001.11:g.3412201C>G	gnomAD
rs780430016	p.Ser670Phe	missense variant	-	NC_000001.11:g.3412206C>T	ExAC,gnomAD
rs769169264	p.Gln671Arg	missense variant	-	NC_000001.11:g.3412209A>G	ExAC,gnomAD
rs1270179748	p.Ser673Leu	missense variant	-	NC_000001.11:g.3412215C>T	TOPMed,gnomAD
rs945579017	p.Phe674Leu	missense variant	-	NC_000001.11:g.3412219C>A	TOPMed
rs1419308750	p.Phe675Leu	missense variant	-	NC_000001.11:g.3412220T>C	gnomAD
rs1163688177	p.Pro676Leu	missense variant	-	NC_000001.11:g.3412224C>T	gnomAD
NCI-TCGA novel	p.Pro677Ser	missense variant	-	NC_000001.11:g.3412226C>T	NCI-TCGA
rs1463404804	p.Pro677Leu	missense variant	-	NC_000001.11:g.3412227C>T	gnomAD
rs1354516604	p.Pro678Ser	missense variant	-	NC_000001.11:g.3412229C>T	gnomAD
rs368139988	p.Pro678Arg	missense variant	-	NC_000001.11:g.3412230C>G	ESP,ExAC,TOPMed,gnomAD
rs772689095	p.Asp679His	missense variant	-	NC_000001.11:g.3412232G>C	ExAC,TOPMed,gnomAD
rs770781991	p.Asp679Glu	missense variant	-	NC_000001.11:g.3412234C>A	ExAC,TOPMed,gnomAD
rs772689095	p.Asp679Asn	missense variant	-	NC_000001.11:g.3412232G>A	ExAC,TOPMed,gnomAD
rs528536647	p.Glu680Lys	missense variant	-	NC_000001.11:g.3412235G>A	ExAC,TOPMed,gnomAD
rs1308133919	p.Gln681Arg	missense variant	-	NC_000001.11:g.3412239A>G	TOPMed
rs1256394087	p.Thr684Ser	missense variant	-	NC_000001.11:g.3412248C>G	TOPMed
rs1290268218	p.Ala685Thr	missense variant	-	NC_000001.11:g.3412250G>A	gnomAD
rs868332674	p.Thr686Met	missense variant	-	NC_000001.11:g.3412254C>T	gnomAD
rs575376153	p.Thr686Ala	missense variant	-	NC_000001.11:g.3412253A>G	ExAC,TOPMed,gnomAD
RCV000221873	p.Gly687Ala	missense variant	-	NC_000001.11:g.3412257G>C	ClinVar
rs876657959	p.Gly687Ala	missense variant	-	NC_000001.11:g.3412257G>C	TOPMed,gnomAD
rs367580261	p.Ala688Thr	missense variant	-	NC_000001.11:g.3412259G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750573716	p.Ala689Thr	missense variant	-	NC_000001.11:g.3412262G>A	ExAC,TOPMed,gnomAD
rs577251077	p.Ala689Gly	missense variant	-	NC_000001.11:g.3412263C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000651662	p.Gly690Arg	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412265G>A	ClinVar
rs1408714731	p.Gly690Arg	missense variant	-	NC_000001.11:g.3412265G>A	gnomAD
rs754263794	p.Asp691Glu	missense variant	-	NC_000001.11:g.3412270C>G	ExAC,gnomAD
rs1389624914	p.Ala695Thr	missense variant	-	NC_000001.11:g.3412280G>A	TOPMed,gnomAD
rs779334537	p.Ala697Thr	missense variant	-	NC_000001.11:g.3412286G>A	ExAC,TOPMed,gnomAD
rs915239907	p.Ala697Val	missense variant	-	NC_000001.11:g.3412287C>T	gnomAD
rs779334537	p.Ala697Ser	missense variant	-	NC_000001.11:g.3412286G>T	ExAC,TOPMed,gnomAD
RCV000214303	p.Ala697Ser	missense variant	-	NC_000001.11:g.3412286G>T	ClinVar
RCV000651651	p.Ala697Ser	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412286G>T	ClinVar
rs777339607	p.Ala700Thr	missense variant	-	NC_000001.11:g.3412295G>A	ExAC,gnomAD
rs1284574530	p.Ala700Val	missense variant	-	NC_000001.11:g.3412296C>T	gnomAD
NCI-TCGA novel	p.Glu701Asp	missense variant	-	NC_000001.11:g.3412300G>C	NCI-TCGA
rs770765641	p.Glu701Lys	missense variant	-	NC_000001.11:g.3412298G>A	ExAC,gnomAD
RCV000054518	p.Lys702Ter	nonsense	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412301A>T	ClinVar
rs397514742	p.Lys702Ter	stop gained	-	NC_000001.11:g.3412301A>T	-
rs375453690	p.Gly705Ser	missense variant	-	NC_000001.11:g.3412310G>A	ESP,ExAC,TOPMed,gnomAD
rs369820345	p.Pro706Ala	missense variant	-	NC_000001.11:g.3412313C>G	ESP,ExAC,gnomAD
rs767432596	p.Gly707Ser	missense variant	-	NC_000001.11:g.3412316G>A	ExAC,TOPMed,gnomAD
rs767432596	p.Gly707Arg	missense variant	-	NC_000001.11:g.3412316G>C	ExAC,TOPMed,gnomAD
rs760878369	p.Phe708Leu	missense variant	-	NC_000001.11:g.3412319T>C	ExAC,gnomAD
COSM6063397	p.Met709Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412324G>T	NCI-TCGA Cosmic
RCV000765130	p.Met709Thr	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412323T>C	ClinVar
rs201807364	p.Met709Thr	missense variant	-	NC_000001.11:g.3412323T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000489210	p.Met709Thr	missense variant	-	NC_000001.11:g.3412323T>C	ClinVar
rs754175753	p.Met709Ile	missense variant	-	NC_000001.11:g.3412324G>C	ExAC,gnomAD
rs1171883892	p.Met711Ile	missense variant	-	NC_000001.11:g.3412330G>A	gnomAD
NCI-TCGA novel	p.Glu713Gly	missense variant	-	NC_000001.11:g.3412335A>G	NCI-TCGA
rs758955781	p.Lys715Asn	missense variant	-	NC_000001.11:g.3412342G>C	ExAC,gnomAD
rs753076233	p.Lys715Gln	missense variant	-	NC_000001.11:g.3412340A>C	ExAC,gnomAD
rs530296389	p.Leu716Val	missense variant	-	NC_000001.11:g.3412343C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs746583494	p.Gly717Val	missense variant	-	NC_000001.11:g.3412347G>T	ExAC,gnomAD
rs746583494	p.Gly717Asp	missense variant	-	NC_000001.11:g.3412347G>A	ExAC,gnomAD
rs756939235	p.Ser718Leu	missense variant	-	NC_000001.11:g.3412350C>T	ExAC,gnomAD
COSM3488227	p.Pro720Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412356C>T	NCI-TCGA Cosmic
rs1200532527	p.Pro720His	missense variant	-	NC_000001.11:g.3412356C>A	gnomAD
rs1444905889	p.His722Asp	missense variant	-	NC_000001.11:g.3412361C>G	gnomAD
rs1444905889	p.His722Asn	missense variant	-	NC_000001.11:g.3412361C>A	gnomAD
rs1218415690	p.His722Gln	missense variant	-	NC_000001.11:g.3412363C>G	gnomAD
rs769438373	p.Ser723Leu	missense variant	-	NC_000001.11:g.3412365C>T	ExAC,TOPMed,gnomAD
rs777156928	p.Ala724Val	missense variant	-	NC_000001.11:g.3412368C>T	ExAC,TOPMed,gnomAD
rs749126430	p.Ala724Thr	missense variant	-	NC_000001.11:g.3412367G>A	ExAC,gnomAD
rs1383137153	p.Phe727Val	missense variant	-	NC_000001.11:g.3412376T>G	TOPMed,gnomAD
rs200109766	p.Phe729Leu	missense variant	-	NC_000001.11:g.3412384C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766466041	p.Phe729Leu	missense variant	-	NC_000001.11:g.3412382T>C	ExAC,gnomAD
RCV000559473	p.Phe729Leu	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412384C>G	ClinVar
rs1460341017	p.Leu730Arg	missense variant	-	NC_000001.11:g.3412386T>G	gnomAD
rs759756565	p.Pro731Ser	missense variant	-	NC_000001.11:g.3412388C>T	ExAC,TOPMed,gnomAD
rs753162594	p.Pro734Ser	missense variant	-	NC_000001.11:g.3412397C>T	ExAC,gnomAD
NCI-TCGA novel	p.His735Arg	missense variant	-	NC_000001.11:g.3412401A>G	NCI-TCGA
COSM116023	p.Leu737Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412406C>G	NCI-TCGA Cosmic
rs764703147	p.Leu737Phe	missense variant	-	NC_000001.11:g.3412406C>T	ExAC,TOPMed,gnomAD
COSM4031538	p.Tyr738Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3412411C>A	NCI-TCGA Cosmic
RCV000522569	p.Pro739Ala	missense variant	-	NC_000001.11:g.3412412C>G	ClinVar
rs1553176925	p.Pro739Ala	missense variant	-	NC_000001.11:g.3412412C>G	-
rs759903951	p.Thr741Met	missense variant	-	NC_000001.11:g.3412419C>T	ExAC,gnomAD
COSM6063396	p.Asp742Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412421G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg743Ter	stop gained	-	NC_000001.11:g.3412424C>T	NCI-TCGA
rs532623381	p.Arg743Leu	missense variant	-	NC_000001.11:g.3412425G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs560412765	p.Arg743Gly	missense variant	-	NC_000001.11:g.3412424C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs532623381	p.Arg743Pro	missense variant	-	NC_000001.11:g.3412425G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs532623381	p.Arg743Gln	missense variant	-	NC_000001.11:g.3412425G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs568480531	p.Leu745Val	missense variant	-	NC_000001.11:g.3412430C>G	1000Genomes
NCI-TCGA novel	p.Ala746Gly	missense variant	-	NC_000001.11:g.3412434C>G	NCI-TCGA
rs375259092	p.Ala746Thr	missense variant	-	NC_000001.11:g.3412433G>A	ESP,ExAC,TOPMed,gnomAD
rs1181206904	p.Ala746Asp	missense variant	-	NC_000001.11:g.3412434C>A	gnomAD
rs375259092	p.Ala746Ser	missense variant	-	NC_000001.11:g.3412433G>T	ESP,ExAC,TOPMed,gnomAD
rs1362090844	p.His747Asp	missense variant	-	NC_000001.11:g.3412436C>G	gnomAD
rs995205684	p.His747Arg	missense variant	-	NC_000001.11:g.3412437A>G	TOPMed
rs778769330	p.Ala753Ser	missense variant	-	NC_000001.11:g.3412454G>T	ExAC,TOPMed,gnomAD
RCV000546538	p.Glu754Lys	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412457G>A	ClinVar
rs369599647	p.Glu754Gln	missense variant	-	NC_000001.11:g.3412457G>C	ESP,ExAC,TOPMed,gnomAD
rs369599647	p.Glu754Lys	missense variant	-	NC_000001.11:g.3412457G>A	ESP,ExAC,TOPMed,gnomAD
rs969598014	p.Pro755Gln	missense variant	-	NC_000001.11:g.3412461C>A	TOPMed
rs1396633685	p.Pro755Thr	missense variant	-	NC_000001.11:g.3412460C>A	gnomAD
rs1327610924	p.Lys756Asn	missense variant	-	NC_000001.11:g.3412465G>T	gnomAD
rs377758631	p.Pro758Leu	missense variant	-	NC_000001.11:g.3412470C>T	ESP,ExAC,gnomAD
rs770119635	p.Pro758Ser	missense variant	-	NC_000001.11:g.3412469C>T	ExAC,gnomAD
rs762997591	p.Arg759Gln	missense variant	-	NC_000001.11:g.3412473G>A	ExAC,TOPMed,gnomAD
rs752903093	p.Arg759Trp	missense variant	-	NC_000001.11:g.3412472C>T	ExAC,TOPMed,gnomAD
rs752903093	p.Arg759Gly	missense variant	-	NC_000001.11:g.3412472C>G	ExAC,TOPMed,gnomAD
rs568097564	p.Asp760Glu	missense variant	-	NC_000001.11:g.3412477C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000461410	p.Ala761Thr	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412478G>A	ClinVar
rs200947814	p.Ala761Pro	missense variant	-	NC_000001.11:g.3412478G>C	ESP,ExAC,TOPMed,gnomAD
rs200947814	p.Ala761Thr	missense variant	-	NC_000001.11:g.3412478G>A	ESP,ExAC,TOPMed,gnomAD
rs1306991002	p.Leu762Val	missense variant	-	NC_000001.11:g.3412481C>G	TOPMed
rs1248519854	p.Leu762Pro	missense variant	-	NC_000001.11:g.3412482T>C	gnomAD
rs755721207	p.Lys763Gln	missense variant	-	NC_000001.11:g.3412484A>C	ExAC,gnomAD
RCV000226109	p.Val764Met	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412487G>A	ClinVar
rs149333409	p.Val764Met	missense variant	-	NC_000001.11:g.3412487G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000558931	p.Gly766Ser	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412493G>A	ClinVar
rs778681326	p.Gly766Ala	missense variant	-	NC_000001.11:g.3412494G>C	ExAC,gnomAD
rs199998420	p.Gly766Ser	missense variant	-	NC_000001.11:g.3412493G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778681326	p.Gly766Asp	missense variant	-	NC_000001.11:g.3412494G>A	ExAC,gnomAD
rs778681326	p.Gly766Val	missense variant	-	NC_000001.11:g.3412494G>T	ExAC,gnomAD
RCV000612968	p.Gly766Ser	missense variant	-	NC_000001.11:g.3412493G>A	ClinVar
rs1458359946	p.Pro767Leu	missense variant	-	NC_000001.11:g.3412497C>T	gnomAD
rs199817629	p.Ser768Arg	missense variant	-	NC_000001.11:g.3412501T>G	ESP,ExAC,gnomAD
rs772054022	p.Ser768Arg	missense variant	-	NC_000001.11:g.3412499A>C	ExAC,gnomAD
rs769885024	p.Glu770Lys	missense variant	-	NC_000001.11:g.3412505G>A	ExAC,gnomAD
rs1354451621	p.Cys771Ser	missense variant	-	NC_000001.11:g.3412509G>C	gnomAD
NCI-TCGA novel	p.Asp774Tyr	missense variant	-	NC_000001.11:g.3412517G>T	NCI-TCGA
NCI-TCGA novel	p.Asp774Glu	missense variant	-	NC_000001.11:g.3412519T>A	NCI-TCGA
rs1380028151	p.Thr776Ile	missense variant	-	NC_000001.11:g.3412524C>T	gnomAD
rs1239211928	p.Pro779Leu	missense variant	-	NC_000001.11:g.3412533C>T	TOPMed
rs1459365687	p.Lys780Glu	missense variant	-	NC_000001.11:g.3412535A>G	TOPMed
rs1038198761	p.Lys780Arg	missense variant	-	NC_000001.11:g.3412536A>G	-
rs1227133282	p.Asp781Asn	missense variant	-	NC_000001.11:g.3412538G>A	gnomAD
rs763116381	p.Val782Met	missense variant	-	NC_000001.11:g.3412541G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys783Glu	missense variant	-	NC_000001.11:g.3412544A>G	NCI-TCGA
COSM3488230	p.Pro784Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412548C>T	NCI-TCGA Cosmic
rs183595422	p.Pro784Ser	missense variant	-	NC_000001.11:g.3412547C>T	1000Genomes
rs1460565334	p.Pro784Arg	missense variant	-	NC_000001.11:g.3412548C>G	gnomAD
NCI-TCGA novel	p.Pro787His	missense variant	-	NC_000001.11:g.3412557C>A	NCI-TCGA
rs774871878	p.Pro787Leu	missense variant	-	NC_000001.11:g.3412557C>T	ExAC,gnomAD
rs768208960	p.Met788Leu	missense variant	-	NC_000001.11:g.3412559A>T	ExAC,gnomAD
rs1257108498	p.Met788Lys	missense variant	-	NC_000001.11:g.3412560T>A	gnomAD
rs1473371955	p.Pro789Ser	missense variant	-	NC_000001.11:g.3412562C>T	TOPMed
rs772822432	p.Lys790Arg	missense variant	-	NC_000001.11:g.3412566A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser793Trp	missense variant	-	NC_000001.11:g.3412575C>G	NCI-TCGA
rs753460866	p.Ser793Leu	missense variant	-	NC_000001.11:g.3412575C>T	ExAC,gnomAD
rs1374253487	p.Ala794Thr	missense variant	-	NC_000001.11:g.3412577G>A	gnomAD
rs765002600	p.Pro795Leu	missense variant	-	NC_000001.11:g.3412581C>T	ExAC,TOPMed,gnomAD
RCV000478115	p.Ala796Thr	missense variant	-	NC_000001.11:g.3412583G>A	ClinVar
rs367879720	p.Ala796Thr	missense variant	-	NC_000001.11:g.3412583G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser797Phe	missense variant	-	NC_000001.11:g.3412587C>T	NCI-TCGA
rs371920642	p.Gly798Cys	missense variant	-	NC_000001.11:g.3412589G>T	ExAC,TOPMed,gnomAD
rs371920642	p.Gly798Ser	missense variant	-	NC_000001.11:g.3412589G>A	ExAC,TOPMed,gnomAD
rs371920642	p.Gly798Arg	missense variant	-	NC_000001.11:g.3412589G>C	ExAC,TOPMed,gnomAD
rs749471483	p.Glu799Lys	missense variant	-	NC_000001.11:g.3412592G>A	ExAC,gnomAD
COSM3865336	p.Glu800Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3412595G>A	NCI-TCGA Cosmic
rs201295872	p.Glu800Asp	missense variant	-	NC_000001.11:g.3412597G>C	ExAC,gnomAD
rs774855381	p.Gln801His	missense variant	-	NC_000001.11:g.3412600G>C	ExAC,gnomAD
rs1213107052	p.Pro802Leu	missense variant	-	NC_000001.11:g.3412602C>T	gnomAD
rs772583416	p.Ile807Val	missense variant	-	NC_000001.11:g.3412616A>G	ExAC,TOPMed,gnomAD
rs549044743	p.Ile807Met	missense variant	-	NC_000001.11:g.3412618C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs761120771	p.Gly808Ser	missense variant	-	NC_000001.11:g.3412619G>A	ExAC,gnomAD
rs765866896	p.Ser809Thr	missense variant	-	NC_000001.11:g.3412623G>C	ExAC,TOPMed,gnomAD
rs776055411	p.Arg810Trp	missense variant	-	NC_000001.11:g.3412625C>T	ExAC,gnomAD
rs1394386492	p.Arg810Gln	missense variant	-	NC_000001.11:g.3412626G>A	gnomAD
rs759159465	p.Ala811Ser	missense variant	-	NC_000001.11:g.3412628G>T	ExAC,gnomAD
RCV000820926	p.Arg812Cys	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412631C>T	ClinVar
RCV000221476	p.Arg812Cys	missense variant	-	NC_000001.11:g.3412631C>T	ClinVar
rs764936593	p.Arg812His	missense variant	-	NC_000001.11:g.3412632G>A	ExAC,TOPMed,gnomAD
rs876657960	p.Arg812Cys	missense variant	-	NC_000001.11:g.3412631C>T	gnomAD
rs1304823527	p.Ala813Gly	missense variant	-	NC_000001.11:g.3412635C>G	gnomAD
rs1360298417	p.Ser814Cys	missense variant	-	NC_000001.11:g.3412637A>T	gnomAD
rs752476219	p.Ser814Arg	missense variant	-	NC_000001.11:g.3412639C>A	ExAC,TOPMed,gnomAD
rs1360298417	p.Ser814Gly	missense variant	-	NC_000001.11:g.3412637A>G	gnomAD
rs1436260455	p.Ser814Asn	missense variant	-	NC_000001.11:g.3412638G>A	gnomAD
rs1369390354	p.Gln815Arg	missense variant	-	NC_000001.11:g.3412641A>G	gnomAD
RCV000468700	p.Gln815Ter	nonsense	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412640C>T	ClinVar
rs1060500997	p.Gln815Ter	stop gained	-	NC_000001.11:g.3412640C>T	-
RCV000853165	p.Asn816Ser	missense variant	Familial restrictive cardiomyopathy (RCM)	NC_000001.11:g.3412644A>G	ClinVar
rs372189819	p.Asn816Lys	missense variant	-	NC_000001.11:g.3412645C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs397514743	p.Asn816Ser	missense variant	-	NC_000001.11:g.3412644A>G	ExAC,TOPMed,gnomAD
rs397514743	p.Asn816Ser	missense variant	Left ventricular non-compaction 8 (LVNC8)	NC_000001.11:g.3412644A>G	UniProt,dbSNP
VAR_070214	p.Asn816Ser	missense variant	Left ventricular non-compaction 8 (LVNC8)	NC_000001.11:g.3412644A>G	UniProt
rs1464206016	p.Asn816Asp	missense variant	-	NC_000001.11:g.3412643A>G	TOPMed
RCV000611940	p.Gly817Ser	missense variant	-	NC_000001.11:g.3412646G>A	ClinVar
rs375308440	p.Gly817Ser	missense variant	-	NC_000001.11:g.3412646G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000232966	p.Gly818Ser	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412649G>A	ClinVar
rs201904226	p.Gly818Ser	missense variant	-	NC_000001.11:g.3412649G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755243204	p.Gly819Arg	missense variant	-	NC_000001.11:g.3412652G>A	ExAC,TOPMed,gnomAD
rs755243204	p.Gly819Arg	missense variant	-	NC_000001.11:g.3412652G>C	ExAC,TOPMed,gnomAD
rs772528427	p.Arg820Gln	missense variant	-	NC_000001.11:g.3412656G>A	ExAC,TOPMed,gnomAD
rs748390268	p.Arg820Trp	missense variant	-	NC_000001.11:g.3412655C>T	ExAC,TOPMed,gnomAD
rs1442294563	p.Pro822Thr	missense variant	-	NC_000001.11:g.3412661C>A	TOPMed
RCV000471354	p.Arg823Cys	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412664C>T	ClinVar
rs932569189	p.Arg823Cys	missense variant	-	NC_000001.11:g.3412664C>T	TOPMed,gnomAD
rs371654192	p.Arg823Leu	missense variant	-	NC_000001.11:g.3412665G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000603381	p.Arg823His	missense variant	-	NC_000001.11:g.3412665G>A	ClinVar
RCV000223185	p.Arg823Pro	missense variant	-	NC_000001.11:g.3412665G>C	ClinVar
rs371654192	p.Arg823His	missense variant	-	NC_000001.11:g.3412665G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371654192	p.Arg823Pro	missense variant	-	NC_000001.11:g.3412665G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776201909	p.Val827Ile	missense variant	-	NC_000001.11:g.3412676G>A	ExAC,TOPMed,gnomAD
rs1458133079	p.Tyr828His	missense variant	-	NC_000001.11:g.3412679T>C	gnomAD
rs1484752359	p.Glu830Val	missense variant	-	NC_000001.11:g.3412686A>T	gnomAD
rs1392945429	p.Arg831Cys	missense variant	-	NC_000001.11:g.3412688C>T	TOPMed,gnomAD
rs1439171485	p.Arg831His	missense variant	-	NC_000001.11:g.3412689G>A	TOPMed,gnomAD
rs759104573	p.Gly834Asp	missense variant	-	NC_000001.11:g.3412698G>A	ExAC,TOPMed,gnomAD
rs755872965	p.Ala835Thr	missense variant	-	NC_000001.11:g.3412700G>A	ExAC,TOPMed,gnomAD
RCV000221333	p.Gly836Ser	missense variant	-	NC_000001.11:g.3412703G>A	ClinVar
rs114204766	p.Gly836Ser	missense variant	-	NC_000001.11:g.3412703G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000697800	p.Glu837Lys	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412706G>A	ClinVar
rs1332598606	p.Glu837Val	missense variant	-	NC_000001.11:g.3412707A>T	gnomAD
rs1343697961	p.Glu837Lys	missense variant	-	NC_000001.11:g.3412706G>A	TOPMed,gnomAD
rs1223606621	p.Glu837Asp	missense variant	-	NC_000001.11:g.3412708G>C	gnomAD
rs1247206517	p.Gly838Arg	missense variant	-	NC_000001.11:g.3412709G>C	gnomAD
rs1247206517	p.Gly838Trp	missense variant	-	NC_000001.11:g.3412709G>T	gnomAD
rs527355817	p.Val842Leu	missense variant	-	NC_000001.11:g.3412721G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs753949982	p.Pro844Leu	missense variant	-	NC_000001.11:g.3412728C>T	ExAC,TOPMed,gnomAD
rs767418172	p.Pro844Thr	missense variant	-	NC_000001.11:g.3412727C>A	ExAC,gnomAD
rs779169196	p.Ala845Val	missense variant	-	NC_000001.11:g.3412731C>T	ExAC,TOPMed,gnomAD
RCV000476374	p.Arg846Trp	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412733C>T	ClinVar
rs758745187	p.Arg846Gln	missense variant	-	NC_000001.11:g.3412734G>A	ExAC,TOPMed,gnomAD
rs752922142	p.Arg846Trp	missense variant	-	NC_000001.11:g.3412733C>T	ExAC,TOPMed,gnomAD
RCV000559879	p.Met847Leu	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412736A>T	ClinVar
rs369624816	p.Met847Leu	missense variant	-	NC_000001.11:g.3412736A>T	1000Genomes,ExAC,gnomAD
rs369624816	p.Met847Val	missense variant	-	NC_000001.11:g.3412736A>G	1000Genomes,ExAC,gnomAD
rs1309905548	p.Pro848Ser	missense variant	-	NC_000001.11:g.3412739C>T	gnomAD
rs1020929529	p.Pro851Ser	missense variant	-	NC_000001.11:g.3412748C>T	TOPMed
rs1414328567	p.Pro851Leu	missense variant	-	NC_000001.11:g.3412749C>T	gnomAD
rs771456448	p.Pro852Leu	missense variant	-	NC_000001.11:g.3412752C>T	ExAC,TOPMed,gnomAD
rs771456448	p.Pro852Gln	missense variant	-	NC_000001.11:g.3412752C>A	ExAC,TOPMed,gnomAD
rs1229821106	p.Leu853Ile	missense variant	-	NC_000001.11:g.3412754C>A	gnomAD
rs377029492	p.Ala856Thr	missense variant	-	NC_000001.11:g.3412763G>A	ESP,ExAC,TOPMed,gnomAD
RCV000215161	p.Ser859Leu	missense variant	-	NC_000001.11:g.3412773C>T	ClinVar
RCV000468206	p.Ser859Leu	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3412773C>T	ClinVar
rs370046582	p.Ser859Leu	missense variant	-	NC_000001.11:g.3412773C>T	ESP,ExAC,TOPMed,gnomAD
rs1254943167	p.Pro860His	missense variant	-	NC_000001.11:g.3412776C>A	gnomAD
rs1209635056	p.Pro860Ser	missense variant	-	NC_000001.11:g.3412775C>T	gnomAD
rs1322016235	p.Phe862Leu	missense variant	-	NC_000001.11:g.3412783C>G	TOPMed
rs1489156449	p.Met863Val	missense variant	-	NC_000001.11:g.3412784A>G	gnomAD
rs1182769018	p.Asp864His	missense variant	-	NC_000001.11:g.3412787G>C	gnomAD
rs1330865718	p.Pro865Thr	missense variant	-	NC_000001.11:g.3412790C>A	TOPMed
rs1419481200	p.Tyr867His	missense variant	-	NC_000001.11:g.3412796T>C	TOPMed,gnomAD
rs1012942050	p.Arg869Ser	missense variant	-	NC_000001.11:g.3414563G>C	TOPMed
rs1037369704	p.Arg869Lys	missense variant	-	NC_000001.11:g.3414562G>A	TOPMed
rs780593352	p.Val870Ala	missense variant	-	NC_000001.11:g.3414565T>C	ExAC,gnomAD
rs749811828	p.Glu871Lys	missense variant	-	NC_000001.11:g.3414567G>A	ExAC,gnomAD
rs754375101	p.Arg873Trp	missense variant	-	NC_000001.11:g.3414573C>T	ExAC,TOPMed,gnomAD
rs184929979	p.Arg873Gln	missense variant	-	NC_000001.11:g.3414574G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs895618007	p.Thr876Ile	missense variant	-	NC_000001.11:g.3414583C>T	TOPMed
rs747737208	p.Thr876Ala	missense variant	-	NC_000001.11:g.3414582A>G	ExAC,gnomAD
rs572014192	p.Asp877Tyr	missense variant	-	NC_000001.11:g.3414585G>T	1000Genomes,ExAC,gnomAD
rs746861136	p.Val879Met	missense variant	-	NC_000001.11:g.3414591G>A	ExAC,TOPMed,gnomAD
RCV000823144	p.Val879Met	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3414591G>A	ClinVar
RCV000498032	p.Val879Met	missense variant	-	NC_000001.11:g.3414591G>A	ClinVar
rs1440026597	p.Ala881Thr	missense variant	-	NC_000001.11:g.3414597G>A	gnomAD
rs1321015846	p.Ala881Val	missense variant	-	NC_000001.11:g.3414598C>T	gnomAD
rs1436568404	p.Leu882Pro	missense variant	-	NC_000001.11:g.3414601T>C	gnomAD
COSM3789903	p.Glu884Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3414606G>C	NCI-TCGA Cosmic
COSM3488234	p.Glu884Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3414606G>A	NCI-TCGA Cosmic
rs1269124082	p.Tyr886His	missense variant	-	NC_000001.11:g.3414612T>C	gnomAD
rs202115331	p.Leu887Pro	missense variant	-	NC_000001.11:g.3414616T>C	gnomAD
RCV000054523	p.Leu887Pro	missense variant	Dilated cardiomyopathy 1LL (CMD1LL)	NC_000001.11:g.3414616T>C	ClinVar
rs201119848	p.Arg888Gln	missense variant	-	NC_000001.11:g.3414619G>A	ESP,ExAC,TOPMed,gnomAD
rs1208513057	p.Arg888Trp	missense variant	-	NC_000001.11:g.3414618C>T	TOPMed,gnomAD
RCV000686322	p.Pro889Leu	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3414622C>T	ClinVar
RCV000656180	p.Pro889Leu	missense variant	Wolff-Parkinson-White pattern	NC_000001.11:g.3414622C>T	ClinVar
rs201814961	p.Pro889Leu	missense variant	-	NC_000001.11:g.3414622C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761909508	p.Ser890Pro	missense variant	-	NC_000001.11:g.3414624T>C	ExAC
rs372004034	p.Ser890Phe	missense variant	-	NC_000001.11:g.3414625C>T	ESP,ExAC,TOPMed,gnomAD
rs573567598	p.Pro891Leu	missense variant	-	NC_000001.11:g.3414628C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln897ArgPheSerTerUnk	frameshift	-	NC_000001.11:g.3414641C>-	NCI-TCGA
rs759958364	p.Met898Ile	missense variant	-	NC_000001.11:g.3417830G>A	ExAC,TOPMed,gnomAD
rs1279942845	p.Ala900Val	missense variant	-	NC_000001.11:g.3417835C>T	gnomAD
rs1482371535	p.Ile901Thr	missense variant	-	NC_000001.11:g.3417838T>C	gnomAD
NCI-TCGA novel	p.Glu902Ter	stop gained	-	NC_000001.11:g.3417840G>T	NCI-TCGA
rs1337997114	p.Glu902Gln	missense variant	-	NC_000001.11:g.3417840G>C	TOPMed
rs765834094	p.Met904Ile	missense variant	-	NC_000001.11:g.3417848G>A	ExAC,gnomAD
COSM908367	p.Leu908Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3417858C>A	NCI-TCGA Cosmic
COSM3488239	p.Glu909Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3417863G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu909Gln	missense variant	-	NC_000001.11:g.3417861G>C	NCI-TCGA
rs1187916769	p.Glu909Lys	missense variant	-	NC_000001.11:g.3417861G>A	gnomAD
rs777457274	p.Ser910Gly	missense variant	-	NC_000001.11:g.3417864A>G	ExAC,gnomAD
rs751209278	p.Ala912Pro	missense variant	-	NC_000001.11:g.3417870G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala913SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.3417871_3417872insG	NCI-TCGA
RCV000229654	p.Met914Thr	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417877T>C	ClinVar
RCV000493075	p.Met914Thr	missense variant	-	NC_000001.11:g.3417877T>C	ClinVar
rs757018869	p.Met914Val	missense variant	-	NC_000001.11:g.3417876A>G	ExAC,gnomAD
rs201304831	p.Met914Lys	missense variant	-	NC_000001.11:g.3417877T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201304831	p.Met914Thr	missense variant	-	NC_000001.11:g.3417877T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756209340	p.Ala916Val	missense variant	-	NC_000001.11:g.3417883C>T	ExAC,TOPMed,gnomAD
RCV000203205	p.Ala916Val	missense variant	-	NC_000001.11:g.3417883C>T	ClinVar
rs556571848	p.Ser918Leu	missense variant	-	NC_000001.11:g.3417889C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs894891138	p.Gly919Asp	missense variant	-	NC_000001.11:g.3417892G>A	TOPMed
rs375126788	p.Gly919Ser	missense variant	-	NC_000001.11:g.3417891G>A	ESP,ExAC,TOPMed,gnomAD
rs375126788	p.Gly919Cys	missense variant	-	NC_000001.11:g.3417891G>T	ESP,ExAC,TOPMed,gnomAD
rs773332334	p.Ser921Pro	missense variant	-	NC_000001.11:g.3417897T>C	ExAC,gnomAD
rs576629075	p.Leu922Val	missense variant	-	NC_000001.11:g.3417900C>G	1000Genomes,ExAC,gnomAD
rs771212094	p.Gln923His	missense variant	-	NC_000001.11:g.3417905G>C	ExAC,gnomAD
rs776849795	p.Pro924Arg	missense variant	-	NC_000001.11:g.3417907C>G	ExAC,TOPMed,gnomAD
rs1043747428	p.His927Asn	missense variant	-	NC_000001.11:g.3417915C>A	TOPMed,gnomAD
rs763577669	p.His927Pro	missense variant	-	NC_000001.11:g.3417916A>C	ExAC,TOPMed,gnomAD
RCV000413206	p.His927Pro	missense variant	-	NC_000001.11:g.3417916A>C	ClinVar
rs1431106474	p.His928Pro	missense variant	-	NC_000001.11:g.3417919A>C	gnomAD
rs377067594	p.His928Gln	missense variant	-	NC_000001.11:g.3417920C>G	ESP,ExAC,TOPMed,gnomAD
RCV000687422	p.Pro929His	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417922C>A	ClinVar
RCV000219521	p.Pro929His	missense variant	-	NC_000001.11:g.3417922C>A	ClinVar
rs371433856	p.Pro929Thr	missense variant	-	NC_000001.11:g.3417921C>A	ESP,ExAC,TOPMed,gnomAD
rs371433856	p.Pro929Ser	missense variant	-	NC_000001.11:g.3417921C>T	ESP,ExAC,TOPMed,gnomAD
rs145632008	p.Pro929His	missense variant	-	NC_000001.11:g.3417922C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145632008	p.Pro929Leu	missense variant	-	NC_000001.11:g.3417922C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1157336405	p.Phe930Leu	missense variant	-	NC_000001.11:g.3417924T>C	TOPMed,gnomAD
rs1218570919	p.Asn931His	missense variant	-	NC_000001.11:g.3417927A>C	TOPMed
NCI-TCGA novel	p.Arg933SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.3417930_3417931insTC	NCI-TCGA
rs572092688	p.Arg933Leu	missense variant	-	NC_000001.11:g.3417934G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs572092688	p.Arg933Gln	missense variant	-	NC_000001.11:g.3417934G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs371460126	p.Arg933Trp	missense variant	-	NC_000001.11:g.3417933C>T	ESP,ExAC,TOPMed,gnomAD
RCV000651670	p.Arg933Trp	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417933C>T	ClinVar
rs749171035	p.Pro936Arg	missense variant	-	NC_000001.11:g.3417943C>G	ExAC,TOPMed,gnomAD
rs1388592309	p.Pro936Ser	missense variant	-	NC_000001.11:g.3417942C>T	TOPMed,gnomAD
rs749171035	p.Pro936Leu	missense variant	-	NC_000001.11:g.3417943C>T	ExAC,TOPMed,gnomAD
rs374972823	p.Pro937Ala	missense variant	-	NC_000001.11:g.3417945C>G	ESP,ExAC,TOPMed,gnomAD
rs747152216	p.Pro937Leu	missense variant	-	NC_000001.11:g.3417946C>T	ExAC,TOPMed,gnomAD
RCV000475724	p.Pro937Ala	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417945C>G	ClinVar
rs374972823	p.Pro937Thr	missense variant	-	NC_000001.11:g.3417945C>A	ESP,ExAC,TOPMed,gnomAD
RCV000471782	p.Thr938Met	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417949C>T	ClinVar
RCV000221072	p.Thr938Ter	frameshift	-	NC_000001.11:g.3417945_3417946dup	ClinVar
rs541102613	p.Thr938Lys	missense variant	-	NC_000001.11:g.3417949C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs541102613	p.Thr938Met	missense variant	-	NC_000001.11:g.3417949C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1487256668	p.Leu939Pro	missense variant	-	NC_000001.11:g.3417952T>C	gnomAD
rs150022595	p.Leu939Phe	missense variant	-	NC_000001.11:g.3417951C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150022595	p.Leu939Ile	missense variant	-	NC_000001.11:g.3417951C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150022595	p.Leu939Val	missense variant	-	NC_000001.11:g.3417951C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000414615	p.Leu939Val	missense variant	-	NC_000001.11:g.3417951C>G	ClinVar
RCV000548693	p.Leu939Ile	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417951C>A	ClinVar
NCI-TCGA novel	p.Ser940Phe	missense variant	-	NC_000001.11:g.3417955C>T	NCI-TCGA
rs538880639	p.Asp941Asn	missense variant	-	NC_000001.11:g.3417957G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs761348051	p.Asp941Val	missense variant	-	NC_000001.11:g.3417958A>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu944Phe	missense variant	-	NC_000001.11:g.3417966C>T	NCI-TCGA
rs750050306	p.Arg945Gly	missense variant	-	NC_000001.11:g.3417969A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly947Arg	missense variant	-	NC_000001.11:g.3417975G>C	NCI-TCGA
NCI-TCGA novel	p.Lys948Glu	missense variant	-	NC_000001.11:g.3417978A>G	NCI-TCGA
rs1164779249	p.Lys948Gln	missense variant	-	NC_000001.11:g.3417978A>C	gnomAD
rs1348619414	p.Glu949Lys	missense variant	-	NC_000001.11:g.3417981G>A	gnomAD
rs755741214	p.Arg950Pro	missense variant	-	NC_000001.11:g.3417985G>C	ExAC,TOPMed,gnomAD
rs755741214	p.Arg950Gln	missense variant	-	NC_000001.11:g.3417985G>A	ExAC,TOPMed,gnomAD
rs1294136105	p.Arg950Ter	stop gained	-	NC_000001.11:g.3417984C>T	gnomAD
COSM681084	p.Tyr951Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3417988A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr951Asn	missense variant	-	NC_000001.11:g.3417987T>A	NCI-TCGA
RCV000656157	p.Thr952Met	missense variant	Wolff-Parkinson-White pattern	NC_000001.11:g.3417991C>T	ClinVar
rs749180764	p.Thr952Lys	missense variant	-	NC_000001.11:g.3417991C>A	ExAC,TOPMed,gnomAD
rs1408159640	p.Thr952Pro	missense variant	-	NC_000001.11:g.3417990A>C	gnomAD
rs749180764	p.Thr952Met	missense variant	-	NC_000001.11:g.3417991C>T	ExAC,TOPMed,gnomAD
RCV000651667	p.Thr952Lys	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3417991C>A	ClinVar
NCI-TCGA novel	p.Cys953SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.3417994G>-	NCI-TCGA
COSM681083	p.Arg954Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3417997G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile959Ser	missense variant	-	NC_000001.11:g.3418681T>G	NCI-TCGA
NCI-TCGA novel	p.Arg962GlnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.3418684_3418685insC	NCI-TCGA
NCI-TCGA novel	p.Arg962Ser	missense variant	-	NC_000001.11:g.3418691A>T	NCI-TCGA
COSM908368	p.Ala964Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3418696C>T	NCI-TCGA Cosmic
COSM4031548	p.Arg971Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3418716A>T	NCI-TCGA Cosmic
rs1390095177	p.Glu976Asp	missense variant	-	NC_000001.11:g.3418733G>C	gnomAD
rs769504634	p.Lys982Glu	missense variant	-	NC_000001.11:g.3425585A>G	ExAC,gnomAD
RCV000413640	p.Asp985Asn	missense variant	-	NC_000001.11:g.3425594G>A	ClinVar
RCV000537999	p.Asp985Asn	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3425594G>A	ClinVar
rs758565663	p.Asp985Asn	missense variant	-	NC_000001.11:g.3425594G>A	ExAC,TOPMed,gnomAD
COSM1341888	p.Arg986Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425597C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser992Leu	missense variant	-	NC_000001.11:g.3425616C>T	NCI-TCGA
rs1287311513	p.Arg996Gln	missense variant	-	NC_000001.11:g.3425628G>A	gnomAD
rs144180800	p.Val998Ile	missense variant	-	NC_000001.11:g.3425633G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs144180800	p.Val998Leu	missense variant	-	NC_000001.11:g.3425633G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg999Trp	missense variant	-	NC_000001.11:g.3425636C>T	NCI-TCGA
rs1356208771	p.Arg999Gln	missense variant	-	NC_000001.11:g.3425637G>A	gnomAD
COSM3488253	p.His1002Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425645C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1007Arg	missense variant	-	NC_000001.11:g.3425661C>G	NCI-TCGA
COSM908381	p.Phe1008Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425665C>A	NCI-TCGA Cosmic
rs755243341	p.Lys1009Arg	missense variant	-	NC_000001.11:g.3425667A>G	ExAC,TOPMed,gnomAD
COSM908382	p.Cys1013Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425679G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn1014His	missense variant	-	NC_000001.11:g.3425681A>C	NCI-TCGA
rs762494143	p.Arg1015Ser	missense variant	-	NC_000001.11:g.3425684C>A	ExAC,gnomAD
rs758654133	p.Arg1015His	missense variant	-	NC_000001.11:g.3425685G>A	ExAC,gnomAD
rs762494143	p.Arg1015Cys	missense variant	-	NC_000001.11:g.3425684C>T	ExAC,gnomAD
COSM4392601	p.Gly1018Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425693G>A	NCI-TCGA Cosmic
COSM908383	p.Gln1020His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425701G>T	NCI-TCGA Cosmic
rs1269754129	p.Arg1025Gln	missense variant	-	NC_000001.11:g.3425715G>A	TOPMed
rs769306210	p.Leu1027Phe	missense variant	-	NC_000001.11:g.3425720C>T	ExAC,gnomAD
rs749000028	p.His1030Tyr	missense variant	-	NC_000001.11:g.3425729C>T	ExAC,gnomAD
rs373883664	p.Glu1031Lys	missense variant	-	NC_000001.11:g.3425732G>A	ESP,ExAC,TOPMed,gnomAD
COSM3984986	p.His1032Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425736A>G	NCI-TCGA Cosmic
COSM4915111	p.His1032Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425736A>T	NCI-TCGA Cosmic
rs554867627	p.Glu1033Lys	missense variant	-	NC_000001.11:g.3425738G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1340399463	p.Asn1034His	missense variant	-	NC_000001.11:g.3425741A>C	gnomAD
rs1302024890	p.Ala1035Val	missense variant	-	NC_000001.11:g.3425745C>T	gnomAD
rs765394108	p.Ala1035Ser	missense variant	-	NC_000001.11:g.3425744G>T	ExAC,TOPMed,gnomAD
rs765394108	p.Ala1035Thr	missense variant	-	NC_000001.11:g.3425744G>A	ExAC,TOPMed,gnomAD
COSM376478	p.Pro1036Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3425748C>T	NCI-TCGA Cosmic
rs375442968	p.Pro1036Ser	missense variant	-	NC_000001.11:g.3425747C>T	ESP,ExAC,TOPMed,gnomAD
rs375442968	p.Pro1036Thr	missense variant	-	NC_000001.11:g.3425747C>A	ESP,ExAC,TOPMed,gnomAD
RCV000519928	p.Pro1036Ser	missense variant	-	NC_000001.11:g.3425747C>T	ClinVar
rs1324208264	p.His1040Gln	missense variant	-	NC_000001.11:g.3426061C>A	gnomAD
RCV000651656	p.Gly1042Arg	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426065G>A	ClinVar
rs768620911	p.Gly1042Arg	missense variant	-	NC_000001.11:g.3426065G>A	ExAC,TOPMed,gnomAD
RCV000490016	p.Gly1042Arg	missense variant	-	NC_000001.11:g.3426065G>A	ClinVar
RCV000215790	p.Leu1044Phe	missense variant	-	NC_000001.11:g.3426071C>T	ClinVar
rs187400273	p.Leu1044Phe	missense variant	-	NC_000001.11:g.3426071C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000232612	p.Leu1044Phe	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426071C>T	ClinVar
rs767844702	p.Leu1044Pro	missense variant	-	NC_000001.11:g.3426072T>C	ExAC,TOPMed,gnomAD
rs750822944	p.Thr1045Met	missense variant	-	NC_000001.11:g.3426075C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn1046Lys	missense variant	-	NC_000001.11:g.3426079C>G	NCI-TCGA
rs1430503837	p.Asn1046Tyr	missense variant	-	NC_000001.11:g.3426077A>T	gnomAD
RCV000486279	p.His1047Asn	missense variant	-	NC_000001.11:g.3426080C>A	ClinVar
rs766964168	p.His1047Asn	missense variant	-	NC_000001.11:g.3426080C>A	ExAC,gnomAD
rs754311746	p.His1047Gln	missense variant	-	NC_000001.11:g.3426082C>A	ExAC,gnomAD
rs1347443850	p.Leu1048Pro	missense variant	-	NC_000001.11:g.3426084T>C	gnomAD
NCI-TCGA novel	p.Gly1049Trp	missense variant	-	NC_000001.11:g.3426086G>T	NCI-TCGA
rs778590995	p.Ser1051Thr	missense variant	-	NC_000001.11:g.3426093G>C	ExAC,gnomAD
RCV000614337	p.Ala1052Thr	missense variant	-	NC_000001.11:g.3426095G>A	ClinVar
rs113879347	p.Ala1052Thr	missense variant	-	NC_000001.11:g.3426095G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777706969	p.Ala1052Val	missense variant	-	NC_000001.11:g.3426096C>T	ExAC,gnomAD
rs770646516	p.Ser1053Phe	missense variant	-	NC_000001.11:g.3426099C>T	ExAC,gnomAD
rs1302141824	p.Ser1054Cys	missense variant	-	NC_000001.11:g.3426102C>G	TOPMed
rs368738819	p.Pro1055Ser	missense variant	-	NC_000001.11:g.3426104C>T	ESP,ExAC,gnomAD
rs368738819	p.Pro1055Ala	missense variant	-	NC_000001.11:g.3426104C>G	ESP,ExAC,gnomAD
rs768732515	p.Glu1058Lys	missense variant	-	NC_000001.11:g.3426113G>A	ExAC,gnomAD
rs774463414	p.Ser1059Leu	missense variant	-	NC_000001.11:g.3426117C>T	ExAC,TOPMed,gnomAD
rs772344270	p.Asp1060Glu	missense variant	-	NC_000001.11:g.3426121C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1061Ser	missense variant	-	NC_000001.11:g.3426123A>G	NCI-TCGA
rs773548976	p.Asn1061Asp	missense variant	-	NC_000001.11:g.3426122A>G	ExAC,gnomAD
rs761040406	p.Asn1061Lys	missense variant	-	NC_000001.11:g.3426124C>A	ExAC,gnomAD
rs766687660	p.Ala1063Thr	missense variant	-	NC_000001.11:g.3426128G>A	ExAC,gnomAD
rs777151088	p.Leu1064Phe	missense variant	-	NC_000001.11:g.3426131C>T	ExAC,TOPMed,gnomAD
rs1410844593	p.Leu1065Ser	missense variant	-	NC_000001.11:g.3426135T>C	TOPMed,gnomAD
rs752323177	p.Glu1067Asp	missense variant	-	NC_000001.11:g.3426142G>C	ExAC,gnomAD
rs200946004	p.Glu1067Lys	missense variant	-	NC_000001.11:g.3426140G>A	ExAC,TOPMed,gnomAD
RCV000651658	p.Glu1067Lys	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426140G>A	ClinVar
rs1423092285	p.Glu1069Gln	missense variant	-	NC_000001.11:g.3426146G>C	gnomAD
COSM681080	p.Asp1070Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3426151C>G	NCI-TCGA Cosmic
rs867029514	p.Asp1070Tyr	missense variant	-	NC_000001.11:g.3426149G>T	gnomAD
rs867029514	p.Asp1070Asn	missense variant	-	NC_000001.11:g.3426149G>A	gnomAD
rs561896892	p.Ser1071Thr	missense variant	-	NC_000001.11:g.3426152T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751178142	p.Ser1071Phe	missense variant	-	NC_000001.11:g.3426153C>T	ExAC,gnomAD
rs1296197392	p.Tyr1072Asp	missense variant	-	NC_000001.11:g.3426155T>G	gnomAD
rs572178955	p.Ser1074Leu	missense variant	-	NC_000001.11:g.3426162C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1170003880	p.Glu1075Gly	missense variant	-	NC_000001.11:g.3426165A>G	TOPMed,gnomAD
rs756085209	p.Ile1076Met	missense variant	-	NC_000001.11:g.3426169C>G	ExAC,gnomAD
rs1356695446	p.Arg1077Gly	missense variant	-	NC_000001.11:g.3426170A>G	gnomAD
rs778955197	p.Phe1079Cys	missense variant	-	NC_000001.11:g.3426177T>G	ExAC,gnomAD
rs972780716	p.Ile1080Val	missense variant	-	NC_000001.11:g.3426179A>G	TOPMed
rs748281037	p.Ala1081Asp	missense variant	-	NC_000001.11:g.3426183C>A	ExAC,gnomAD
rs372177790	p.Asn1082Ser	missense variant	-	NC_000001.11:g.3426186A>G	ESP,ExAC,TOPMed,gnomAD
rs773415200	p.Ser1083Asn	missense variant	-	NC_000001.11:g.3426189G>A	ExAC,TOPMed,gnomAD
rs773415200	p.Ser1083Thr	missense variant	-	NC_000001.11:g.3426189G>C	ExAC,TOPMed,gnomAD
COSM249346	p.Glu1084Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3426191G>T	NCI-TCGA Cosmic
rs747220506	p.Met1085Thr	missense variant	-	NC_000001.11:g.3426195T>C	ExAC,gnomAD
rs760088040	p.Thr1090Lys	missense variant	-	NC_000001.11:g.3426210C>A	ExAC,TOPMed,gnomAD
rs760088040	p.Thr1090Met	missense variant	-	NC_000001.11:g.3426210C>T	ExAC,TOPMed,gnomAD
RCV000227583	p.Thr1090Met	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426210C>T	ClinVar
rs776903233	p.Thr1090Ala	missense variant	-	NC_000001.11:g.3426209A>G	ExAC,gnomAD
COSM4443185	p.Arg1091Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3426212C>T	NCI-TCGA Cosmic
rs564269453	p.Arg1091Gln	missense variant	-	NC_000001.11:g.3426213G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs564269453	p.Arg1091Pro	missense variant	-	NC_000001.11:g.3426213G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1092Ile	missense variant	-	NC_000001.11:g.3426216C>T	NCI-TCGA
rs916449828	p.Thr1092Arg	missense variant	-	NC_000001.11:g.3426216C>G	TOPMed,gnomAD
rs916449828	p.Thr1092Lys	missense variant	-	NC_000001.11:g.3426216C>A	TOPMed,gnomAD
RCV000651661	p.Lys1094Arg	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426222A>G	ClinVar
NCI-TCGA novel	p.Lys1094AsnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.3426220G>-	NCI-TCGA
rs947863770	p.Lys1094Arg	missense variant	-	NC_000001.11:g.3426222A>G	TOPMed,gnomAD
RCV000521614	p.Arg1095Trp	missense variant	-	NC_000001.11:g.3426224C>T	ClinVar
rs763726368	p.Arg1095Gln	missense variant	-	NC_000001.11:g.3426225G>A	ExAC,gnomAD
rs201439415	p.Arg1095Trp	missense variant	-	NC_000001.11:g.3426224C>T	ESP,ExAC,TOPMed,gnomAD
RCV000822475	p.Arg1095Trp	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3426224C>T	ClinVar
rs753755785	p.Ala1096Val	missense variant	-	NC_000001.11:g.3430874C>T	ExAC,TOPMed,gnomAD
rs374562445	p.Ala1096Thr	missense variant	-	NC_000001.11:g.3430873G>A	ESP,ExAC,TOPMed,gnomAD
RCV000651650	p.Ala1096Thr	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3430873G>A	ClinVar
rs1182175707	p.Asp1097Tyr	missense variant	-	NC_000001.11:g.3430876G>T	gnomAD
NCI-TCGA novel	p.Asp1097Val	missense variant	-	NC_000001.11:g.3430877A>T	NCI-TCGA
rs777907752	p.Asp1097Gly	missense variant	-	NC_000001.11:g.3430877A>G	ExAC,TOPMed,gnomAD
RCV000658153	p.Met1098Thr	missense variant	-	NC_000001.11:g.3430880T>C	ClinVar
rs1319675512	p.Met1098Thr	missense variant	-	NC_000001.11:g.3430880T>C	TOPMed,gnomAD
RCV000054521	p.Val1101Met	missense variant	Dilated cardiomyopathy 1LL (CMD1LL)	NC_000001.11:g.3430888G>A	ClinVar
rs201654872	p.Val1101Met	missense variant	-	NC_000001.11:g.3430888G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201654872	p.Val1101Met	missense variant	-	NC_000001.11:g.3430888G>A	UniProt,dbSNP
VAR_070216	p.Val1101Met	missense variant	-	NC_000001.11:g.3430888G>A	UniProt
rs199800219	p.Asp1102Glu	missense variant	-	NC_000001.11:g.3430893C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1103Cys	missense variant	-	NC_000001.11:g.3430894G>T	NCI-TCGA
rs780612473	p.Gly1103Ser	missense variant	-	NC_000001.11:g.3430894G>A	ExAC,TOPMed,gnomAD
rs749780250	p.Ser1104Gly	missense variant	-	NC_000001.11:g.3430897A>G	ExAC,gnomAD
rs769109300	p.Ser1104Asn	missense variant	-	NC_000001.11:g.3430898G>A	ExAC,gnomAD
rs1358863856	p.Ala1105Thr	missense variant	-	NC_000001.11:g.3430900G>A	gnomAD
rs772809311	p.Gln1106His	missense variant	-	NC_000001.11:g.3430905G>C	ExAC,gnomAD
rs771611814	p.Gln1106Lys	missense variant	-	NC_000001.11:g.3430903C>A	ExAC,gnomAD
rs1220618976	p.Cys1107Tyr	missense variant	-	NC_000001.11:g.3430907G>A	gnomAD
rs1466756635	p.Pro1108Leu	missense variant	-	NC_000001.11:g.3430910C>T	TOPMed,gnomAD
rs1466756635	p.Pro1108Arg	missense variant	-	NC_000001.11:g.3430910C>G	TOPMed,gnomAD
rs760371640	p.Gly1109Ser	missense variant	-	NC_000001.11:g.3430912G>A	ExAC,gnomAD
rs1490794781	p.Gly1109Asp	missense variant	-	NC_000001.11:g.3430913G>A	gnomAD
NCI-TCGA novel	p.Glu1113Gly	missense variant	-	NC_000001.11:g.3430925A>G	NCI-TCGA
rs765027640	p.Glu1113Lys	missense variant	-	NC_000001.11:g.3430924G>A	ExAC
NCI-TCGA novel	p.Glu1116Asp	missense variant	-	NC_000001.11:g.3430935G>T	NCI-TCGA
rs1159811184	p.Glu1116Gln	missense variant	-	NC_000001.11:g.3430933G>C	gnomAD
rs1408154473	p.Glu1116Asp	missense variant	-	NC_000001.11:g.3430935G>C	gnomAD
rs1159811184	p.Glu1116Lys	missense variant	-	NC_000001.11:g.3430933G>A	gnomAD
rs752685996	p.Asp1117Asn	missense variant	-	NC_000001.11:g.3430936G>A	ExAC,gnomAD
RCV000658373	p.Val1118Met	missense variant	-	NC_000001.11:g.3430939G>A	ClinVar
RCV000699648	p.Val1118Met	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3430939G>A	ClinVar
rs542279737	p.Val1118Met	missense variant	-	NC_000001.11:g.3430939G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs542279737	p.Val1118Leu	missense variant	-	NC_000001.11:g.3430939G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs756442796	p.Glu1119Asp	missense variant	-	NC_000001.11:g.3430944G>C	ExAC,gnomAD
rs750650633	p.Glu1119Lys	missense variant	-	NC_000001.11:g.3430942G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu1120Lys	missense variant	-	NC_000001.11:g.3430945G>A	NCI-TCGA
rs749724757	p.Glu1121Asp	missense variant	-	NC_000001.11:g.3430950G>C	ExAC,TOPMed
rs780561119	p.Glu1121Lys	missense variant	-	NC_000001.11:g.3430948G>A	ExAC,gnomAD
rs1197356969	p.Asp1122Gly	missense variant	-	NC_000001.11:g.3430952A>G	TOPMed
rs1280641198	p.Asp1122Asn	missense variant	-	NC_000001.11:g.3430951G>A	gnomAD
rs370420046	p.Asp1123Glu	missense variant	-	NC_000001.11:g.3430956C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779219975	p.Asp1123Asn	missense variant	-	NC_000001.11:g.3430954G>A	ExAC,TOPMed,gnomAD
rs771432997	p.Asp1124Asn	missense variant	-	NC_000001.11:g.3430957G>A	ExAC,TOPMed,gnomAD
rs746661891	p.Glu1127Gln	missense variant	-	NC_000001.11:g.3430966G>C	ExAC,TOPMed
rs770629291	p.Glu1128Asp	missense variant	-	NC_000001.11:g.3430971G>C	ExAC,gnomAD
rs776279865	p.Asp1129Tyr	missense variant	-	NC_000001.11:g.3430972G>T	ExAC,gnomAD
RCV000651663	p.Asp1129Tyr	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3430972G>T	ClinVar
rs759191119	p.Asp1130Tyr	missense variant	-	NC_000001.11:g.3430975G>T	ExAC,gnomAD
rs1233356790	p.Asp1132Glu	missense variant	-	NC_000001.11:g.3430983C>G	gnomAD
rs1385229525	p.Asp1132Tyr	missense variant	-	NC_000001.11:g.3430981G>T	TOPMed
NCI-TCGA novel	p.Ala1135Val	missense variant	-	NC_000001.11:g.3430991C>T	NCI-TCGA
RCV000552638	p.Gly1136Arg	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3430993G>A	ClinVar
rs775245244	p.Gly1136Arg	missense variant	-	NC_000001.11:g.3430993G>A	ExAC,TOPMed,gnomAD
COSM681079	p.Ser1138Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3431000C>G	NCI-TCGA Cosmic
rs1386711962	p.Ser1138Leu	missense variant	-	NC_000001.11:g.3431000C>T	gnomAD
rs767670839	p.Gln1139Lys	missense variant	-	NC_000001.11:g.3431002C>A	ExAC
rs1167554247	p.Asp1140Tyr	missense variant	-	NC_000001.11:g.3431005G>T	gnomAD
NCI-TCGA novel	p.Thr1142Asn	missense variant	-	NC_000001.11:g.3431012C>A	NCI-TCGA
RCV000531783	p.Thr1142Ala	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3431011A>G	ClinVar
rs1553180139	p.Thr1142Ala	missense variant	-	NC_000001.11:g.3431011A>G	-
rs200515585	p.Val1143Met	missense variant	-	NC_000001.11:g.3431014G>A	ExAC,TOPMed,gnomAD
rs755257030	p.Ser1144Tyr	missense variant	-	NC_000001.11:g.3431018C>A	ExAC,TOPMed,gnomAD
rs754116170	p.Ser1144Pro	missense variant	-	NC_000001.11:g.3431017T>C	ExAC,gnomAD
rs377255144	p.Ala1146Thr	missense variant	-	NC_000001.11:g.3431023G>A	ESP,ExAC,TOPMed,gnomAD
rs997911754	p.Pro1147Arg	missense variant	-	NC_000001.11:g.3431027C>G	gnomAD
RCV000460254	p.Glu1148Lys	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3431029G>A	ClinVar
rs746465588	p.Glu1148Lys	missense variant	-	NC_000001.11:g.3431029G>A	ExAC,TOPMed,gnomAD
rs746465588	p.Glu1148Gln	missense variant	-	NC_000001.11:g.3431029G>C	ExAC,TOPMed,gnomAD
rs1273667977	p.Pro1149Arg	missense variant	-	NC_000001.11:g.3431033C>G	gnomAD
rs1197311360	p.Pro1149Ser	missense variant	-	NC_000001.11:g.3431032C>T	gnomAD
NCI-TCGA novel	p.Ala1151Thr	missense variant	-	NC_000001.11:g.3431038G>A	NCI-TCGA
rs1189491241	p.Ala1151Val	missense variant	-	NC_000001.11:g.3431039C>T	gnomAD
RCV000473925	p.Ala1152Thr	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3431041G>A	ClinVar
rs776229208	p.Ala1152Thr	missense variant	-	NC_000001.11:g.3431041G>A	ExAC,gnomAD
rs1444710484	p.Tyr1153Cys	missense variant	-	NC_000001.11:g.3431045A>G	gnomAD
rs999685090	p.Glu1154Lys	missense variant	-	NC_000001.11:g.3431047G>A	TOPMed,gnomAD
rs527844629	p.Glu1154Ala	missense variant	-	NC_000001.11:g.3431048A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs958556928	p.Asp1155Ala	missense variant	-	NC_000001.11:g.3431051A>C	gnomAD
rs1424554035	p.Glu1156Asp	missense variant	-	NC_000001.11:g.3431055G>T	gnomAD
rs769456683	p.Asp1158Tyr	missense variant	-	NC_000001.11:g.3431059G>T	ExAC,gnomAD
rs1323196591	p.Glu1159Lys	missense variant	-	NC_000001.11:g.3431062G>A	TOPMed
RCV000544263	p.Ala1163Thr	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3431074G>A	ClinVar
rs747460948	p.Ala1163Thr	missense variant	-	NC_000001.11:g.3431074G>A	ExAC,TOPMed,gnomAD
rs747460948	p.Ala1163Ser	missense variant	-	NC_000001.11:g.3431074G>T	ExAC,TOPMed,gnomAD
rs374387528	p.Ala1166Val	missense variant	-	NC_000001.11:g.3431084C>T	ESP,gnomAD
RCV000518975	p.Val1167Met	missense variant	-	NC_000001.11:g.3431086G>A	ClinVar
rs1229345087	p.Val1167Met	missense variant	-	NC_000001.11:g.3431086G>A	TOPMed,gnomAD
rs1322543390	p.Gly1168Ala	missense variant	-	NC_000001.11:g.3431090G>C	gnomAD
rs1264890876	p.His1171Tyr	missense variant	-	NC_000001.11:g.3431098C>T	gnomAD
rs370663882	p.Arg1173Gln	missense variant	-	NC_000001.11:g.3431105G>A	ESP,ExAC,TOPMed,gnomAD
rs752867498	p.Cys1175Tyr	missense variant	-	NC_000001.11:g.3431968G>A	ExAC,TOPMed,gnomAD
rs1210169174	p.His1179Arg	missense variant	-	NC_000001.11:g.3431980A>G	TOPMed
COSM3789906	p.Glu1180Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.3431982G>T	NCI-TCGA Cosmic
rs764468276	p.Glu1180Asp	missense variant	-	NC_000001.11:g.3431984A>C	ExAC,gnomAD
rs763267613	p.Glu1180Lys	missense variant	-	NC_000001.11:g.3431982G>A	ExAC,TOPMed,gnomAD
rs1318242357	p.Gly1181Ser	missense variant	-	NC_000001.11:g.3431985G>A	gnomAD
rs1290609760	p.Gly1182Asp	missense variant	-	NC_000001.11:g.3431989G>A	gnomAD
rs201703870	p.Gly1182Ser	missense variant	-	NC_000001.11:g.3431988G>A	ESP,ExAC,TOPMed,gnomAD
rs780559889	p.Glu1187Ala	missense variant	-	NC_000001.11:g.3432004A>C	ExAC,gnomAD
rs572604983	p.Pro1188Leu	missense variant	-	NC_000001.11:g.3432007C>T	1000Genomes,ExAC,gnomAD
rs1480507302	p.Met1189Ile	missense variant	-	NC_000001.11:g.3432011G>A	gnomAD
rs755588843	p.Pro1190Leu	missense variant	-	NC_000001.11:g.3432013C>T	ExAC,TOPMed,gnomAD
rs1419767711	p.Thr1191Ser	missense variant	-	NC_000001.11:g.3432015A>T	gnomAD
rs748925025	p.Lys1194Glu	missense variant	-	NC_000001.11:g.3432024A>G	ExAC,gnomAD
rs1345263417	p.Gly1195Glu	missense variant	-	NC_000001.11:g.3432028G>A	TOPMed
COSM1341895	p.Asp1197Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3432033G>A	NCI-TCGA Cosmic
rs1426727129	p.Asp1197Gly	missense variant	-	NC_000001.11:g.3432034A>G	gnomAD
rs778899500	p.Leu1198Ile	missense variant	-	NC_000001.11:g.3432036C>A	ExAC,TOPMed,gnomAD
rs772196588	p.Arg1199His	missense variant	-	NC_000001.11:g.3432040G>A	ExAC,TOPMed,gnomAD
rs772196588	p.Arg1199Leu	missense variant	-	NC_000001.11:g.3432040G>T	ExAC,TOPMed,gnomAD
RCV000545185	p.Arg1199Cys	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3432039C>T	ClinVar
rs376762015	p.Arg1199Cys	missense variant	-	NC_000001.11:g.3432039C>T	ESP,ExAC,TOPMed,gnomAD
rs773038317	p.Arg1200Gly	missense variant	-	NC_000001.11:g.3432042A>G	ExAC,gnomAD
COSM3689612	p.Glu1203Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3432051G>A	NCI-TCGA Cosmic
rs1387666515	p.Glu1204Lys	missense variant	-	NC_000001.11:g.3432054G>A	TOPMed
COSM3488260	p.Ala1205Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3432058C>T	NCI-TCGA Cosmic
rs1306089023	p.Ala1205Gly	missense variant	-	NC_000001.11:g.3432058C>G	TOPMed
NCI-TCGA novel	p.Phe1206Ser	missense variant	-	NC_000001.11:g.3432061T>C	NCI-TCGA
rs1446926243	p.Phe1206Leu	missense variant	-	NC_000001.11:g.3432060T>C	TOPMed,gnomAD
rs199972068	p.Glu1207Asp	missense variant	-	NC_000001.11:g.3432065A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000234393	p.Glu1207Asp	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3432065A>T	ClinVar
RCV000616533	p.Glu1207Asp	missense variant	-	NC_000001.11:g.3432065A>T	ClinVar
rs578095108	p.Val1208Ala	missense variant	-	NC_000001.11:g.3432067T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs372241788	p.Asp1210His	missense variant	-	NC_000001.11:g.3432072G>C	ESP,TOPMed
rs376835158	p.Val1211Met	missense variant	-	NC_000001.11:g.3432075G>A	ESP,ExAC,TOPMed,gnomAD
rs1202803491	p.Val1211Ala	missense variant	-	NC_000001.11:g.3432076T>C	gnomAD
NCI-TCGA novel	p.Leu1212Phe	missense variant	-	NC_000001.11:g.3432078C>T	NCI-TCGA
NCI-TCGA novel	p.Ser1214Tyr	missense variant	-	NC_000001.11:g.3432085C>A	NCI-TCGA
rs957333595	p.Thr1215Ala	missense variant	-	NC_000001.11:g.3432087A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1218Tyr	missense variant	-	NC_000001.11:g.3432097C>A	NCI-TCGA
NCI-TCGA novel	p.Glu1219Gln	missense variant	-	NC_000001.11:g.3432099G>C	NCI-TCGA
rs764414998	p.Ala1220Thr	missense variant	-	NC_000001.11:g.3432102G>A	ExAC,gnomAD
rs1485523092	p.His1223Tyr	missense variant	-	NC_000001.11:g.3432111C>T	TOPMed
rs751991022	p.Thr1224Ala	missense variant	-	NC_000001.11:g.3432114A>G	ExAC,gnomAD
rs768006911	p.Leu1225Pro	missense variant	-	NC_000001.11:g.3432118T>C	ExAC,gnomAD
rs762291683	p.Leu1225Val	missense variant	-	NC_000001.11:g.3432117C>G	ExAC,TOPMed,gnomAD
rs755610068	p.Cys1226Ter	stop gained	-	NC_000001.11:g.3432122C>A	ExAC
rs1254675082	p.Cys1226Arg	missense variant	-	NC_000001.11:g.3432120T>C	TOPMed
rs765828521	p.Arg1227Lys	missense variant	-	NC_000001.11:g.3432124G>A	ExAC,TOPMed,gnomAD
rs753516768	p.Gln1228His	missense variant	-	NC_000001.11:g.3432128G>C	ExAC,gnomAD
rs747895035	p.Gln1232Arg	missense variant	-	NC_000001.11:g.3432139A>G	ExAC,gnomAD
rs778840101	p.Gln1232Glu	missense variant	-	NC_000001.11:g.3432138C>G	ExAC,gnomAD
rs1372477178	p.Ala1233Pro	missense variant	-	NC_000001.11:g.3433677G>C	TOPMed
rs1283581276	p.Tyr1234His	missense variant	-	NC_000001.11:g.3433680T>C	gnomAD
NCI-TCGA novel	p.Ala1235Val	missense variant	-	NC_000001.11:g.3433684C>T	NCI-TCGA
rs550550637	p.Met1236Ile	missense variant	-	NC_000001.11:g.3433688G>A	gnomAD
NCI-TCGA novel	p.Met1237Ile	missense variant	-	NC_000001.11:g.3433691G>T	NCI-TCGA
COSM3488264	p.Ser1241Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3433702C>T	NCI-TCGA Cosmic
rs772460000	p.Glu1242Lys	missense variant	-	NC_000001.11:g.3433704G>A	ExAC,TOPMed,gnomAD
rs773488297	p.Thr1244Ala	missense variant	-	NC_000001.11:g.3433710A>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro1245His	missense variant	-	NC_000001.11:g.3433714C>A	NCI-TCGA
rs761238816	p.Pro1245Ser	missense variant	-	NC_000001.11:g.3433713C>T	ExAC,TOPMed,gnomAD
COSM3488265	p.His1247Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.3433719C>T	NCI-TCGA Cosmic
rs777283850	p.Thr1248Ala	missense variant	-	NC_000001.11:g.3433722A>G	ExAC,gnomAD
rs759077270	p.Thr1248Asn	missense variant	-	NC_000001.11:g.3433723C>A	ExAC,TOPMed,gnomAD
rs759077270	p.Thr1248Ser	missense variant	-	NC_000001.11:g.3433723C>G	ExAC,TOPMed,gnomAD
rs764863295	p.Pro1249Arg	missense variant	-	NC_000001.11:g.3433726C>G	ExAC,gnomAD
rs764863295	p.Pro1249Leu	missense variant	-	NC_000001.11:g.3433726C>T	ExAC,gnomAD
rs1553180663	p.Ser1250Thr	missense variant	-	NC_000001.11:g.3433728T>A	-
RCV000651664	p.Ser1250Thr	missense variant	Left ventricular noncompaction 8 (LVNC8)	NC_000001.11:g.3433728T>A	ClinVar
rs763948929	p.Gln1251Ter	stop gained	-	NC_000001.11:g.3433731C>T	ExAC,gnomAD
rs1301606085	p.Gln1251Pro	missense variant	-	NC_000001.11:g.3433732A>C	gnomAD
rs1437881844	p.Gly1252Arg	missense variant	-	NC_000001.11:g.3433734G>C	gnomAD
NCI-TCGA novel	p.Ser1253Phe	missense variant	-	NC_000001.11:g.3433738C>T	NCI-TCGA
rs903199574	p.Ser1253Pro	missense variant	-	NC_000001.11:g.3433737T>C	TOPMed,gnomAD
rs367785185	p.Leu1254Pro	missense variant	-	NC_000001.11:g.3433741T>C	ESP,ExAC,TOPMed,gnomAD
rs1289394464	p.Ala1256Val	missense variant	-	NC_000001.11:g.3433747C>T	gnomAD
rs750388478	p.Ala1256Thr	missense variant	-	NC_000001.11:g.3433746G>A	ExAC,TOPMed,gnomAD
rs750388478	p.Ala1256Ser	missense variant	-	NC_000001.11:g.3433746G>T	ExAC,TOPMed,gnomAD
rs779012456	p.Lys1259Asn	missense variant	-	NC_000001.11:g.3433757G>C	ExAC,gnomAD
rs1443520832	p.Gly1262Val	missense variant	-	NC_000001.11:g.3433765G>T	TOPMed
rs772246949	p.Thr1264Ala	missense variant	-	NC_000001.11:g.3433770A>G	ExAC,TOPMed,gnomAD
rs778185431	p.Thr1264Met	missense variant	-	NC_000001.11:g.3433771C>T	ExAC,gnomAD
rs771454903	p.Ser1265Leu	missense variant	-	NC_000001.11:g.3433774C>T	ExAC,TOPMed,gnomAD
rs1328798528	p.Glu1266Lys	missense variant	-	NC_000001.11:g.3433776G>A	gnomAD
rs182452331	p.Glu1266Gly	missense variant	-	NC_000001.11:g.3433777A>G	1000Genomes,ExAC,gnomAD
rs1309992162	p.Ser1267Cys	missense variant	-	NC_000001.11:g.3433780C>G	gnomAD
rs1382106122	p.Gly1268Glu	missense variant	-	NC_000001.11:g.3433783G>A	gnomAD
rs1283509889	p.Ala1269Thr	missense variant	-	NC_000001.11:g.3433785G>A	gnomAD
rs769401771	p.Phe1270Ser	missense variant	-	NC_000001.11:g.3433789T>C	ExAC,gnomAD
rs762656688	p.His1271Gln	missense variant	-	NC_000001.11:g.3433793C>A	ExAC,gnomAD
rs751226604	p.Pro1272Ser	missense variant	-	NC_000001.11:g.3433794C>T	ExAC,TOPMed,gnomAD
rs1272247581	p.Pro1272Arg	missense variant	-	NC_000001.11:g.3433795C>G	TOPMed,gnomAD
RCV000604520	p.Asn1274Ser	missense variant	-	NC_000001.11:g.3433801A>G	ClinVar
rs1379723348	p.Asn1274Asp	missense variant	-	NC_000001.11:g.3433800A>G	gnomAD
rs1553180695	p.Asn1274Ser	missense variant	-	NC_000001.11:g.3433801A>G	-
rs767318547	p.Leu1276Val	missense variant	-	NC_000001.11:g.3433806C>G	ExAC,gnomAD
rs767318547	p.Leu1276Phe	missense variant	-	NC_000001.11:g.3433806C>T	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004114	Astrocytoma	disease	BEFREE
C0004352	Autistic Disorder	group	HPO
C0005940	Bone Diseases	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0007193	Cardiomyopathy, Dilated	group	BEFREE;GENOMICS_ENGLAND;HPO
C0007852	Cervical Migraine Syndrome	disease	CTD_human
C0009806	Constipation	phenotype	HPO
C0011168	Deglutition Disorders	group	HPO
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0013080	Down Syndrome	disease	LHGDN
C0014306	Enophthalmos	disease	HPO
C0014544	Epilepsy	disease	HPO
C0014772	Red Blood Cell Count measurement	phenotype	GWASCAT
C0017168	Gastroesophageal reflux disease	disease	HPO
C0018203	Chronic granulomatous disease	group	LHGDN
C0018799	Heart Diseases	group	BEFREE
C0018801	Heart failure	disease	BEFREE;HPO
C0018802	Congestive heart failure	disease	BEFREE;HPO
C0018834	Heartburn	phenotype	HPO
C0018935	Hematocrit procedure	phenotype	GWASCAT
C0018984	Hemicrania migraine	disease	CTD_human
C0023418	leukemia	disease	BEFREE;LHGDN
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE;LHGDN
C0023470	Myeloid Leukemia	disease	BEFREE;LHGDN
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023479	Acute myelomonocytic leukemia	disease	BEFREE
C0023492	Leukemia, T-Cell	disease	BEFREE
C0023493	Adult T-Cell Lymphoma/Leukemia	disease	BEFREE;LHGDN
C0023892	Biliary cirrhosis	disease	GWASDB
C0025202	melanoma	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0026034	Microstomia	disease	HPO
C0026603	Motion Sickness	disease	GWASCAT
C0026827	Muscle hypotonia	phenotype	HPO
C0028754	Obesity	disease	BEFREE
C0029455	Osteopoikilosis (disorder)	disease	BEFREE
C0035335	Retinoblastoma	disease	BEFREE
C0036572	Seizures	phenotype	HPO
C0038271	Stereotyped Behavior	phenotype	HPO
C0038273	Stereotypic Movement Disorder	phenotype	HPO
C0038379	Strabismus	disease	HPO
C0042331	Migraine Variant	disease	CTD_human
C0085271	Self-Injurious Behavior	phenotype	HPO
C0149931	Migraine Disorders	group	BEFREE;CTD_human;GWASCAT;GWASDB
C0151611	Electroencephalogram abnormal	phenotype	HPO
C0151779	Cutaneous Melanoma	disease	BEFREE
C0154723	Migraine with Aura	disease	BEFREE
C0175754	Agenesis of corpus callosum	disease	HPO
C0200665	Platelet mean volume determination (procedure)	phenotype	GWASCAT
C0220615	Adult Acute Myeloblastic Leukemia	disease	BEFREE
C0220621	Childhood Acute Myeloid Leukemia	disease	BEFREE
C0221356	Brachycephaly	disease	HPO
C0221357	Brachydactyly	disease	HPO
C0231246	Failure to gain weight	phenotype	HPO
C0235946	Cerebral atrophy	disease	HPO
C0237326	Dyschezia	phenotype	HPO
C0264886	Conduction disorder of the heart	group	GENOMICS_ENGLAND
C0265514	Dermatofibrosis lenticularis disseminata	disease	BEFREE
C0270858	Abdominal Migraine	disease	CTD_human
C0277828	Late fontanel closure	phenotype	HPO
C0338480	Common Migraine	disease	BEFREE
C0338489	Status Migrainosus	disease	CTD_human
C0340427	Familial dilated cardiomyopathy	disease	ORPHANET
C0344905	Left ventricular abnormality	disease	HPO
C0369183	Erythrocyte Mean Corpuscular Hemoglobin Test	phenotype	GWASCAT
C0376545	Hematologic Neoplasms	group	BEFREE
C0409348	Flexion contracture of proximal interphalangeal joint	phenotype	HPO
C0423224	Sunken eyes	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424366	Self-harm	disease	HPO
C0424688	Small head	phenotype	HPO
C0427565	Platelet distribution width measurement	phenotype	GWASCAT
C0429097	QRS complex feature	phenotype	GWASCAT
C0474566	Platelet hematocrit measurement	phenotype	GWASCAT
C0521664	Acute Confusional Migraine	disease	CTD_human
C0524587	Mean Corpuscular Volume (result)	phenotype	GWASCAT
C0557874	Global developmental delay	disease	HPO
C0575081	Gait abnormality	group	HPO
C0598766	Leukemogenesis	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0700438	Sick Headaches	disease	CTD_human
C0746940	Nonverbal	phenotype	HPO
C0878544	Cardiomyopathies	group	BEFREE
C0917816	Mental deficiency	disease	HPO
C1261502	Finding of Mean Corpuscular Hemoglobin	phenotype	GWASCAT
C1318035	Platelet distribution width result	phenotype	GWASCAT
C1332153	Acute Myeloid Leukemia Arising from Previous Myelodysplastic Syndrome	disease	BEFREE
C1449563	Cardiomyopathy, Familial Idiopathic	disease	BEFREE
C1527347	Difficulty speaking	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1842870	Chromosome 1p36 Deletion Syndrome	disease	BEFREE;ORPHANET
C1842876	Depressed nasal ridge	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1844505	Pointed chin	phenotype	HPO
C1848207	Poor speech	phenotype	HPO
C1848673	Hypoplastic feet	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1853242	Midface retrusion	phenotype	HPO
C1854882	Absent speech	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1956346	Coronary Artery Disease	disease	GWASCAT
C1960469	Left ventricular noncompaction	disease	BEFREE;HPO;ORPHANET
C2315100	Pediatric failure to thrive	disease	HPO
C2607914	Allergic rhinitis (disorder)	disease	GWASCAT
C2673410	Small midface	phenotype	HPO
C2674608	Feeding difficulties in infancy	phenotype	HPO
C2931505	Mixed sclerosing bone dystrophy	disease	BEFREE
C3149631	MELORHEOSTOSIS, ISOLATED	disease	BEFREE
C3277019	Horizontal eyebrow	phenotype	HPO
C3278923	Dilated ventricles (finding)	phenotype	HPO
C3463824	MYELODYSPLASTIC SYNDROME	group	BEFREE;LHGDN
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3714756	Intellectual Disability	group	HPO
C3809288	LEFT VENTRICULAR NONCOMPACTION 8	disease	CLINVAR;CTD_human;UNIPROT
C3809289	CARDIOMYOPATHY, DILATED, 1LL	disease	CLINVAR;CTD_human;UNIPROT
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021133	Left ventricular noncompaction cardiomyopathy	disease	BEFREE;GENOMICS_ENGLAND
C4024665	High-grade hypermetropia	phenotype	HPO
C4072823	Broad cranium shape	phenotype	HPO
C4072824	Wide skull shape	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280574	Problems speaking	phenotype	HPO
C4317146	Acid reflux	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003713	transcription coactivator activity	ISS
GO:0005515	protein binding	IPI
GO:0033613	activating transcription factor binding	IPI
GO:0043565	sequence-specific DNA binding	IDA
GO:0046332	SMAD binding	IEA
GO:0046872	metal ion binding	IEA
GO:0046974	histone methyltransferase activity (H3-K9 specific)	ISS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0022008	neurogenesis	IEA
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IMP
GO:0035019	somatic stem cell population maintenance	IEA
GO:0043457	regulation of cellular respiration	ISS
GO:0043586	tongue development	IEA
GO:0045892	negative regulation of transcription, DNA-templated	ISS
GO:0045892	negative regulation of transcription, DNA-templated	IDA
GO:0045893	positive regulation of transcription, DNA-templated	ISS
GO:0045893	positive regulation of transcription, DNA-templated	IDA
GO:0050872	white fat cell differentiation	IEA
GO:0050873	brown fat cell differentiation	ISS
GO:0051567	histone H3-K9 methylation	IEA
GO:0060021	roof of mouth development	IEA
GO:0070828	heterochromatin organization	ISS
GO:0090336	positive regulation of brown fat cell differentiation	IEA
GO:0120162	positive regulation of cold-induced thermogenesis	ISS
GO:0030512	negative regulation of transforming growth factor beta receptor signaling pathway	IDA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0016235	aggresome	IDA
GO:0017053	transcriptional repressor complex	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-3214841	PKMTs methylate histone lysines	TAS
R-HSA-3247509	Chromatin modifying enzymes	TAS
R-HSA-4839726	Chromatin organization	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C016780	11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which results in increased methylation of PRDM16 gene	30521419
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of PRDM16 mRNA	29038090
D015056	1-Methyl-3-isobutylxanthine	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 mRNA	29288687
D015056	1-Methyl-3-isobutylxanthine	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 protein	29288687
D015056	1-Methyl-3-isobutylxanthine	PRKACA protein promotes the reaction [[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 mRNA]	29288687
D015056	1-Methyl-3-isobutylxanthine	PRKACA protein promotes the reaction [[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 protein]	29288687
D015056	1-Methyl-3-isobutylxanthine	[Rosiglitazone affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 mRNA	29288687
D015056	1-Methyl-3-isobutylxanthine	[Rosiglitazone affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 protein	29288687
D019297	2,4-Dinitrophenol	[2,4-Dinitrophenol co-treated with Dietary Fats] affects the expression of PRDM16 mRNA	24872412
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of PRDM16 mRNA	18648102
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C496492	abrine	abrine results in decreased expression of PRDM16 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of PRDM16 mRNA	22230336
D000082	Acetaminophen	Acetaminophen results in increased expression of PRDM16 mRNA	26690555; 29067470;
D000082	Acetaminophen	Acetaminophen affects the expression of PRDM16 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 affects the methylation of PRDM16 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of PRDM16 intron	30157460
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of PRDM16 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of PRDM16 gene	25304211
C015001	arsenite	arsenite results in increased methylation of PRDM16 promoter	23974009
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of PRDM16 intron	30157460
C026487	benzo(e)pyrene	benzo(e)pyrene affects the methylation of PRDM16 intron	30157460
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of PRDM16 exon	30157460
C006780	bisphenol A	bisphenol A results in increased methylation of PRDM16 intron	30906313
C006780	bisphenol A	bisphenol A affects the methylation of PRDM16 promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased methylation of PRDM16 promoter	27312807
D002186	Cannabinoids	[Cannabinoids results in increased abundance of 11-nor-delta(9)-tetrahydrocannabinol-9-carboxylic acid] which results in increased methylation of PRDM16 gene	30521419
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PRDM16	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PRDM16 gene	20938992
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PRDM16 mRNA	20938992
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of PRDM16 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in increased expression of PRDM16 mRNA	20106945
D003630	Daunorubicin	Daunorubicin results in decreased expression of PRDM16 mRNA	26537877; 28940058;
D000077209	Decitabine	Decitabine results in decreased expression of PRDM16 mRNA	27915011
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of PRDM16 mRNA]	27941970
D003907	Dexamethasone	Dexamethasone results in decreased expression of PRDM16 mRNA	19853017
D003907	Dexamethasone	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 mRNA	29288687
D003907	Dexamethasone	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 protein	29288687
D003907	Dexamethasone	PRKACA protein promotes the reaction [[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 mRNA]	29288687
D003907	Dexamethasone	PRKACA protein promotes the reaction [[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 protein]	29288687
D003907	Dexamethasone	[Rosiglitazone affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 mRNA	29288687
D003907	Dexamethasone	[Rosiglitazone affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 protein	29288687
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of PRDM16 mRNA	26924002
D004041	Dietary Fats	[2,4-Dinitrophenol co-treated with Dietary Fats] affects the expression of PRDM16 mRNA	24872412
D004041	Dietary Fats	Dietary Fats affects the expression of PRDM16 mRNA	27805061
D004041	Dietary Fats	[Dietary Fats co-treated with Resveratrol] results in increased expression of PRDM16 mRNA	29197120
D004041	Dietary Fats	Dietary Fats results in decreased expression of PRDM16 mRNA	30597221
D004041	Dietary Fats	Harmine affects the reaction [Dietary Fats affects the expression of PRDM16 mRNA]	27805061
D004041	Dietary Fats	[INT 131 co-treated with Dietary Fats co-treated with Dietary Sugars] results in increased expression of PRDM16 protein	28611668
D004041	Dietary Fats	Plant Oils inhibits the reaction [Dietary Fats results in decreased expression of PRDM16 mRNA]	30597221
D004041	Dietary Fats	[Rosiglitazone co-treated with Dietary Fats co-treated with Dietary Sugars] results in increased expression of PRDM16 protein	28611668
D000073417	Dietary Sugars	[INT 131 co-treated with Dietary Fats co-treated with Dietary Sugars] results in increased expression of PRDM16 protein	28611668
D000073417	Dietary Sugars	[Rosiglitazone co-treated with Dietary Fats co-treated with Dietary Sugars] results in increased expression of PRDM16 protein	28611668
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of PRDM16 mRNA	31163220
C024629	dimethyl phthalate	dimethyl phthalate results in decreased expression of PRDM16 mRNA	26924002
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C516138	dorsomorphin	dorsomorphin inhibits the reaction [Resveratrol results in increased expression of PRDM16 protein]	25761413
D004317	Doxorubicin	Doxorubicin results in decreased expression of PRDM16 mRNA	26537877; 28940058;
C118739	entinostat	entinostat results in decreased expression of PRDM16 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
D000431	Ethanol	Ethanol affects the expression of PRDM16 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of PRDM16 mRNA	30319688
D017313	Fenretinide	Fenretinide results in increased expression of PRDM16 mRNA	28973697
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PRDM16	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PRDM16 gene	20938992
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PRDM16 mRNA	20938992
D004397	Fonofos	Fonofos results in increased methylation of PRDM16 promoter	22847954
D006247	Harmine	Harmine affects the reaction [Dietary Fats affects the expression of PRDM16 mRNA]	27805061
D006247	Harmine	Harmine results in increased expression of PRDM16 protein	27805061
C541917	INT 131	[INT 131 co-treated with Dietary Fats co-treated with Dietary Sugars] results in increased expression of PRDM16 protein	28611668
C541917	INT 131	INT 131 results in increased expression of PRDM16 mRNA	28611668
C432503	licarin A	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 mRNA	29288687
C432503	licarin A	[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 protein	29288687
C432503	licarin A	PRKACA protein promotes the reaction [[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 mRNA]	29288687
C432503	licarin A	PRKACA protein promotes the reaction [[licarin A affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 protein]	29288687
D008694	Methamphetamine	Methamphetamine affects the methylation of PRDM16 promoter	26307267
D008694	Methamphetamine	Methamphetamine results in increased expression of PRDM16 mRNA	26307267
D008701	Methapyrilene	Methapyrilene affects the methylation of PRDM16 intron	30157460
D008701	Methapyrilene	Methapyrilene results in increased methylation of PRDM16 exon	30157460
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of and results in increased expression of PRDM16	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of PRDM16 gene	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of PRDM16 mRNA	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of PRDM16 mRNA	28001369
D008942	Mitoxantrone	Mitoxantrone results in decreased expression of PRDM16 mRNA	26537877; 28940058;
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of PRDM16 mRNA	26924002
C510788	N4-(2,2-dimethyl-3-oxo-4H-pyrid(1,4)oxazin-6-yl)-5-fluoro-N2-(3,4,5-trimethoxyphenyl)-2,4-pyrimidinediamine	N4-(2,2-dimethyl-3-oxo-4H-pyrid(1,4)oxazin-6-yl)-5-fluoro-N2-(3,4,5-trimethoxyphenyl)-2,4-pyrimidinediamine results in increased expression of PRDM16 protein	25487280
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of PRDM16 mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of PRDM16 mRNA	24768652; 25583101;
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of PRDM16 mRNA	30529165
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
D010278	Parathion	Parathion results in increased methylation of PRDM16 promoter	22847954
D052638	Particulate Matter	Particulate Matter results in decreased expression of PRDM16 mRNA	21873646
C046012	pentanal	pentanal results in increased expression of PRDM16 mRNA	26079696
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of PRDM16 mRNA	26272509
D010936	Plant Extracts	Plant Extracts results in decreased expression of PRDM16 mRNA	23557933
D010938	Plant Oils	Plant Oils inhibits the reaction [Dietary Fats results in decreased expression of PRDM16 mRNA]	30597221
C005556	propionaldehyde	propionaldehyde results in increased expression of PRDM16 mRNA	26079696
C034912	puag-haad	puag-haad results in increased expression of PRDM16 mRNA	30577593
C034912	puag-haad	puag-haad results in increased expression of PRDM16 protein	30577593
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of PRDM16 mRNA	27029645
D000077185	Resveratrol	[Dietary Fats co-treated with Resveratrol] results in increased expression of PRDM16 mRNA	29197120
D000077185	Resveratrol	dorsomorphin inhibits the reaction [Resveratrol results in increased expression of PRDM16 protein]	25761413
D000077185	Resveratrol	PRKAA1 gene mutant form inhibits the reaction [Resveratrol results in increased expression of PRDM16 mRNA]	25761413
D000077185	Resveratrol	PRKAA1 gene mutant form inhibits the reaction [Resveratrol results in increased expression of PRDM16 protein]	25761413
D000077185	Resveratrol	Resveratrol results in increased expression of PRDM16 mRNA	25761413
D000077185	Resveratrol	Resveratrol results in increased expression of PRDM16 protein	25761413
D000077154	Rosiglitazone	[Rosiglitazone affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 mRNA	29288687
D000077154	Rosiglitazone	[Rosiglitazone affects the susceptibility to [INS protein co-treated with 1-Methyl-3-isobutylxanthine co-treated with Dexamethasone]] which results in increased expression of PRDM16 protein	29288687
D000077154	Rosiglitazone	[Rosiglitazone co-treated with Dietary Fats co-treated with Dietary Sugars] results in increased expression of PRDM16 protein	28611668
D000077154	Rosiglitazone	Rosiglitazone results in increased expression of PRDM16 mRNA	28611668; 29910772;
D012402	Rotenone	Rotenone results in decreased expression of PRDM16 mRNA	28374803
C017947	sodium arsenite	sodium arsenite results in increased expression of PRDM16 mRNA	29301061
D012969	Sodium Fluoride	Sodium Fluoride results in increased expression of PRDM16 mRNA	27862939
C012568	terbufos	terbufos results in increased methylation of PRDM16 promoter	22847954
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the methylation of PRDM16 gene	28011154
C479163	tofacitinib	tofacitinib results in increased expression of PRDM16 protein	25487280
D014212	Tretinoin	Tretinoin results in decreased expression of PRDM16 mRNA	21934132
C011559	tributyltin	tributyltin affects the methylation of PRDM16 gene	28011154
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of PRDM16 mRNA	24935251; 26272509;
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of PRDM16 mRNA	26743178
D014520	Urethane	Urethane results in decreased expression of PRDM16 mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of PRDM16 mRNA	23179753; 24383497; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased methylation of PRDM16 gene	29154799
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of PRDM16 mRNA	26682919
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PRDM16 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in decreased expression of PRDM16 mRNA	26272509; 27188386;

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0877	Alternative promoter usage
KW-0025	Alternative splicing
KW-0122	Cardiomyopathy
KW-0160	Chromosomal rearrangement
KW-0963	Cytoplasm
KW-0221	Differentiation
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-0479	Metal-binding
KW-0489	Methyltransferase
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0678	Repressor
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0808	Transferase
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR001214	SET_dom
IPR036236	Znf_C2H2_sf
IPR013087	Znf_C2H2_type

PROSITE

PROSITE ID	PROSITE Term
PS50280	SET
PS00028	ZINC_FINGER_C2H2_1
PS50157	ZINC_FINGER_C2H2_2

Pfam

Pfam ID	Pfam Term
PF00096	zf-C2H2

Gene: PRDM16

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction