CleftGeneDB-Search

Gene: DNMT3B

Basic information

Tag	Content
Uniprot ID	Q9UBC3; A2A2E2; B4DSM8; B4DSU1; E1P5M6; E1P5M7; E7EN63; E9PBF2; Q9UBD4; Q9UJQ5; Q9UKA6; Q9UNE5; Q9Y5R9; Q9Y5S0;
Entrez ID	1789
Genbank protein ID	AAD31433.1; EAW76356.1; AAD31434.1; EAW76353.1; EAW76351.1; BAG61753.1; EAW76352.1; BAG61690.1; AAL57040.1; EAW76354.1; AAD53062.1; AAD31432.1; AAD53063.1; AAF04015.1;
Genbank nucleotide ID	NM_001207056.1; NM_006892.3; NM_175850.2; NM_175849.1; NM_001207055.1; NM_175848.1;
Ensembl protein ID	ENSP00000412305; ENSP00000328547; ENSP00000403169; ENSP00000313397; ENSP00000337764; ENSP00000201963;
Ensembl nucleotide ID	ENSG00000088305
Gene name	DNA (cytosine-5)-methyltransferase 3B
Gene symbol	DNMT3B
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Required for genome-wide de novo methylation and is essential for the establishment of DNA methylation patterns during development. DNA methylation is coordinated with methylation of histones. May preferentially methylates nucleosomal DNA within the nucleosome core region. May function as transcriptional co-repressor by associating with CBX4 and independently of DNA methylation. Seems to be involved in gene silencing (By similarity). In association with DNMT1 and via the recruitment of CTCFL/BORIS, involved in activation of BAG1 gene expression by modulating dimethylation of promoter histone H3 at H3K4 and H3K9. Isoforms 4 and 5 are probably not functional due to the deletion of two conserved methyltransferase motifs. Functions as a transcriptional corepressor by associating with ZHX1. Required for DUX4 silencing in somatic cells (PubMed:27153398).
Sequence	MKGDTRHLNG EEDAGGREDS ILVNGACSDQ SSDSPPILEA IRTPEIRGRR SSSRLSKREV 60 SSLLSYTQDL TGDGDGEDGD GSDTPVMPKL FRETRTRSES PAVRTRNNNS VSSRERHRPS 120 PRSTRGRQGR NHVDESPVEF PATRSLRRRA TASAGTPWPS PPSSYLTIDL TDDTEDTHGT 180 PQSSSTPYAR LAQDSQQGGM ESPQVEADSG DGDSSEYQDG KEFGIGDLVW GKIKGFSWWP 240 AMVVSWKATS KRQAMSGMRW VQWFGDGKFS EVSADKLVAL GLFSQHFNLA TFNKLVSYRK 300 AMYHALEKAR VRAGKTFPSS PGDSLEDQLK PMLEWAHGGF KPTGIEGLKP NNTQPVVNKS 360 KVRRAGSRKL ESRKYENKTR RRTADDSATS DYCPAPKRLK TNCYNNGKDR GDEDQSREQM 420 ASDVANNKSS LEDGCLSCGR KNPVSFHPLF EGGLCQTCRD RFLELFYMYD DDGYQSYCTV 480 CCEGRELLLC SNTSCCRCFC VECLEVLVGT GTAAEAKLQE PWSCYMCLPQ RCHGVLRRRK 540 DWNVRLQAFF TSDTGLEYEA PKLYPAIPAA RRRPIRVLSL FDGIATGYLV LKELGIKVGK 600 YVASEVCEES IAVGTVKHEG NIKYVNDVRN ITKKNIEEWG PFDLVIGGSP CNDLSNVNPA 660 RKGLYEGTGR LFFEFYHLLN YSRPKEGDDR PFFWMFENVV AMKVGDKRDI SRFLECNPVM 720 IDAIKVSAAH RARYFWGNLP GMNRPVIASK NDKLELQDCL EYNRIAKLKK VQTITTKSNS 780 IKQGKNQLFP VVMNGKEDVL WCTELERIFG FPVHYTDVSN MGRGARQKLL GRSWSVPVIR 840 HLFAPLKDYF ACE 853

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
3FLG
3QKJ
5CIU
5NR3
5NRR
5NRS
5NRV
5NV0
5NV2
5NV7
5NVO
6KDA
6KDB
6KDL
6KDP
6KDT
5CIU

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	DNMT3B		A0A452DST5			Capra hircus	Prediction	More>>
1:1 ortholog	DNMT3B	1789	Q9UBC3			Homo sapiens	Prediction	More>>
1:1 ortholog	Dnmt3b	13436	O88509	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	DNMT3B	458174	A0A2I3SYU8			Pan troglodytes	Prediction	More>>
1:1 ortholog	DNMT3B		A0A287ABQ3			Sus scrofa	Prediction	More>>
1:1 ortholog	Dnmt3b	444985	Q1LZ51			Rattus norvegicus	Prediction	More>>
1:1 ortholog	dnmt3bb.1	317744	Q588C6			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
NCI-TCGA novel	p.Lys2Met	missense variant	-	NC_000020.11:g.32780328A>T	NCI-TCGA
rs778827030	p.Asp4Asn	missense variant	-	NC_000020.11:g.32780333G>A	ExAC,gnomAD
rs778827030	p.Asp4His	missense variant	-	NC_000020.11:g.32780333G>C	ExAC,gnomAD
rs1180045669	p.Thr5Ala	missense variant	-	NC_000020.11:g.32780336A>G	gnomAD
rs201455430	p.Thr5Ser	missense variant	-	NC_000020.11:g.32780337C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201455430	p.Thr5Ile	missense variant	-	NC_000020.11:g.32780337C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758218721	p.Arg6Lys	missense variant	-	NC_000020.11:g.32780340G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg6Ser	missense variant	-	NC_000020.11:g.32780341G>T	NCI-TCGA
rs1164679688	p.Asn9Thr	missense variant	-	NC_000020.11:g.32780349A>C	gnomAD
NCI-TCGA novel	p.Asn9Ser	missense variant	-	NC_000020.11:g.32780349A>G	NCI-TCGA
rs368407604	p.Asp13Asn	missense variant	-	NC_000020.11:g.32780360G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp13Gly	missense variant	-	NC_000020.11:g.32780361A>G	NCI-TCGA
rs770859652	p.Ala14Pro	missense variant	-	NC_000020.11:g.32780363G>C	ExAC,TOPMed,gnomAD
rs770859652	p.Ala14Thr	missense variant	-	NC_000020.11:g.32780363G>A	ExAC,TOPMed,gnomAD
rs770859652	p.Ala14Thr	missense variant	-	NC_000020.11:g.32780363G>A	NCI-TCGA
rs375171362	p.Gly15Ser	missense variant	-	NC_000020.11:g.32780366G>A	gnomAD
rs758536558	p.Gly16Arg	missense variant	-	NC_000020.11:g.32780369G>A	TOPMed,gnomAD
rs937385003	p.Arg17Gly	missense variant	-	NC_000020.11:g.32780372A>G	TOPMed
rs141756182	p.Ser20Trp	missense variant	-	NC_000020.11:g.32780382C>G	ESP,ExAC,TOPMed,gnomAD
rs141756182	p.Ser20Leu	missense variant	-	NC_000020.11:g.32780382C>T	ESP,ExAC,TOPMed,gnomAD
rs1266285999	p.Ile21Thr	missense variant	-	NC_000020.11:g.32780385T>C	gnomAD
rs754241012	p.Leu22Phe	missense variant	-	NC_000020.11:g.32780387C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu22Pro	missense variant	-	NC_000020.11:g.32780388T>C	NCI-TCGA
rs367766007	p.Val23Ile	missense variant	-	NC_000020.11:g.32780390G>A	ESP,ExAC,TOPMed,gnomAD
rs752677666	p.Asn24Tyr	missense variant	-	NC_000020.11:g.32780393A>T	ExAC,TOPMed,gnomAD
rs758506171	p.Asn24Ser	missense variant	-	NC_000020.11:g.32780394A>G	ExAC,gnomAD
RCV000636686	p.Gly25Arg	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32780396G>A	ClinVar
RCV000762341	p.Gly25Arg	missense variant	-	NC_000020.11:g.32780396G>A	ClinVar
rs151128145	p.Gly25Arg	missense variant	-	NC_000020.11:g.32780396G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781115406	p.Ala26Pro	missense variant	-	NC_000020.11:g.32780399G>C	ExAC,gnomAD
rs1481082489	p.Cys27Arg	missense variant	-	NC_000020.11:g.32780402T>C	TOPMed
rs769293365	p.Ser28Gly	missense variant	-	NC_000020.11:g.32780405A>G	ExAC,gnomAD
rs1371940235	p.Ser28Arg	missense variant	-	NC_000020.11:g.32780407C>G	TOPMed,gnomAD
rs775216151	p.Asp29Asn	missense variant	-	NC_000020.11:g.32780408G>A	ExAC,TOPMed,gnomAD
rs121908945	p.Gln30Ter	stop gained	-	NC_000020.11:g.32780411C>T	ExAC,gnomAD
rs1424969940	p.Gln30Arg	missense variant	-	NC_000020.11:g.32780412A>G	gnomAD
rs121908945	p.Gln30Lys	missense variant	-	NC_000020.11:g.32780411C>A	ExAC,gnomAD
rs1424969940	p.Gln30Pro	missense variant	-	NC_000020.11:g.32780412A>C	gnomAD
RCV000007135	p.Gln30Ter	nonsense	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32780411C>T	ClinVar
rs1376823517	p.Ser32Tyr	missense variant	-	NC_000020.11:g.32780418C>A	gnomAD
rs773918660	p.Asp33Asn	missense variant	-	NC_000020.11:g.32780420G>A	ExAC,TOPMed,gnomAD
rs773918660	p.Asp33Asn	missense variant	-	NC_000020.11:g.32780420G>A	NCI-TCGA,NCI-TCGA Cosmic
rs761138255	p.Ser34Ala	missense variant	-	NC_000020.11:g.32780423T>G	ExAC,gnomAD
rs766920119	p.Ser34Leu	missense variant	-	NC_000020.11:g.32780424C>T	ExAC,TOPMed,gnomAD
rs766920119	p.Ser34Leu	missense variant	-	NC_000020.11:g.32780424C>T	NCI-TCGA
rs1343018597	p.Pro35Thr	missense variant	-	NC_000020.11:g.32780426C>A	gnomAD
rs1210229346	p.Pro35Leu	missense variant	-	NC_000020.11:g.32780427C>T	gnomAD
rs759924115	p.Ile37Asn	missense variant	-	NC_000020.11:g.32780433T>A	ExAC,gnomAD
rs374913902	p.Glu39Gln	missense variant	-	NC_000020.11:g.32780438G>C	ESP,ExAC,TOPMed,gnomAD
rs752972556	p.Glu39Asp	missense variant	-	NC_000020.11:g.32780440G>C	ExAC,gnomAD
RCV000349798	p.Glu39Gln	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32780438G>C	ClinVar
rs1261539595	p.Ile41Val	missense variant	-	NC_000020.11:g.32780444A>G	gnomAD
rs758603280	p.Ile41Asn	missense variant	-	NC_000020.11:g.32780445T>A	ExAC,TOPMed
rs150200553	p.Arg42Cys	missense variant	-	NC_000020.11:g.32780447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs751741367	p.Arg42His	missense variant	-	NC_000020.11:g.32780448G>A	ExAC,TOPMed,gnomAD
rs757214677	p.Thr43Ile	missense variant	-	NC_000020.11:g.32780451C>T	ExAC,TOPMed,gnomAD
rs781313570	p.Pro44Leu	missense variant	-	NC_000020.11:g.32780454C>T	ExAC,TOPMed,gnomAD
rs755951894	p.Glu45Ala	missense variant	-	NC_000020.11:g.32780457A>C	ExAC,gnomAD
rs1303346832	p.Arg47Gly	missense variant	-	NC_000020.11:g.32780462A>G	gnomAD
rs762185930	p.Gly48Asp	missense variant	-	NC_000020.11:g.32781353G>A	ExAC,TOPMed,gnomAD
rs1437320413	p.Arg49Gln	missense variant	-	NC_000020.11:g.32781356G>A	NCI-TCGA
rs1437320413	p.Arg49Gln	missense variant	-	NC_000020.11:g.32781356G>A	TOPMed,gnomAD
rs1307425507	p.Arg50Gly	missense variant	-	NC_000020.11:g.32781358A>G	gnomAD
COSM1025775	p.Ser51Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32781361T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser51Thr	missense variant	-	NC_000020.11:g.32781361T>A	NCI-TCGA
rs544561079	p.Ser53Leu	missense variant	-	NC_000020.11:g.32781368C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000369778	p.Ser53Leu	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32781368C>T	ClinVar
rs760640013	p.Arg54Gly	missense variant	-	NC_000020.11:g.32781370C>G	ExAC,gnomAD
rs760640013	p.Arg54Ter	stop gained	-	NC_000020.11:g.32781370C>T	ExAC,gnomAD
rs17123590	p.Arg54Gln	missense variant	-	NC_000020.11:g.32781371G>A	ExAC,gnomAD
rs17123590	p.Arg54Pro	missense variant	-	NC_000020.11:g.32781371G>C	ExAC,gnomAD
rs764811687	p.Ser56Phe	missense variant	-	NC_000020.11:g.32781377C>T	ExAC,TOPMed,gnomAD
RCV000698514	p.Ser56Phe	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32781377C>T	ClinVar
RCV000522310	p.Ser56Phe	missense variant	-	NC_000020.11:g.32781377C>T	ClinVar
NCI-TCGA novel	p.Lys57Asn	missense variant	-	NC_000020.11:g.32781381G>C	NCI-TCGA
rs752329190	p.Ser61Phe	missense variant	-	NC_000020.11:g.32781392C>T	ExAC,gnomAD
rs752329190	p.Ser61Cys	missense variant	-	NC_000020.11:g.32781392C>G	ExAC,gnomAD
rs1261982356	p.Ser62Asn	missense variant	-	NC_000020.11:g.32781395G>A	TOPMed
rs551310722	p.Leu64Val	missense variant	-	NC_000020.11:g.32781400C>G	1000Genomes
rs1481782651	p.Ser65Arg	missense variant	-	NC_000020.11:g.32781405C>G	gnomAD
rs1184306136	p.Thr67Ala	missense variant	-	NC_000020.11:g.32781409A>G	gnomAD
rs1252419302	p.Thr67Ile	missense variant	-	NC_000020.11:g.32781410C>T	gnomAD
rs949900284	p.Gln68Arg	missense variant	-	NC_000020.11:g.32781413A>G	TOPMed
rs752527055	p.Thr71Ile	missense variant	-	NC_000020.11:g.32784765C>T	ExAC,gnomAD
COSM1025779	p.Thr71Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32784764A>G	NCI-TCGA Cosmic
rs868507905	p.Asp73Asn	missense variant	-	NC_000020.11:g.32784770G>A	TOPMed,gnomAD
rs751017290	p.Asp75Asn	missense variant	-	NC_000020.11:g.32784776G>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp75Tyr	missense variant	-	NC_000020.11:g.32784776G>T	NCI-TCGA
rs780815863	p.Gly76Ala	missense variant	-	NC_000020.11:g.32784780G>C	ExAC,gnomAD
rs545685689	p.Gly76Arg	missense variant	-	NC_000020.11:g.32784779G>A	TOPMed,gnomAD
rs545685689	p.Gly76Trp	missense variant	-	NC_000020.11:g.32784779G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu77Lys	missense variant	-	NC_000020.11:g.32784782G>A	NCI-TCGA
rs749755940	p.Gly79Glu	missense variant	-	NC_000020.11:g.32784789G>A	ExAC
rs755581749	p.Asp80Tyr	missense variant	-	NC_000020.11:g.32784791G>T	ExAC,TOPMed,gnomAD
rs748547514	p.Gly81Ala	missense variant	-	NC_000020.11:g.32784795G>C	ExAC,TOPMed,gnomAD
rs748547514	p.Gly81Asp	missense variant	-	NC_000020.11:g.32784795G>A	ExAC,TOPMed,gnomAD
rs779400304	p.Gly81Arg	missense variant	-	NC_000020.11:g.32784794G>C	ExAC,gnomAD
rs138276579	p.Thr84Asn	missense variant	-	NC_000020.11:g.32784804C>A	ESP,TOPMed,gnomAD
rs772377740	p.Thr84Ala	missense variant	-	NC_000020.11:g.32784803A>G	ExAC
rs142571267	p.Pro85Leu	missense variant	-	NC_000020.11:g.32784807C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1280613687	p.Met87Thr	missense variant	-	NC_000020.11:g.32784813T>C	gnomAD
rs200085484	p.Pro88Ser	missense variant	-	NC_000020.11:g.32784815C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM1411114	p.Pro88Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32784816C>T	NCI-TCGA Cosmic
rs776835342	p.Phe91Leu	missense variant	-	NC_000020.11:g.32784826C>G	ExAC,gnomAD
rs201395541	p.Arg92Gln	missense variant	-	NC_000020.11:g.32784828G>A	1000Genomes,ExAC,gnomAD
rs149520896	p.Arg92Trp	missense variant	-	NC_000020.11:g.32784827C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1447244161	p.Thr94Ile	missense variant	-	NC_000020.11:g.32784834C>T	TOPMed
rs775213720	p.Thr96Ser	missense variant	-	NC_000020.11:g.32784840C>G	ExAC
rs200902224	p.Arg97His	missense variant	-	NC_000020.11:g.32784843G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200902224	p.Arg97Pro	missense variant	-	NC_000020.11:g.32784843G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs769220144	p.Arg97Cys	missense variant	-	NC_000020.11:g.32784842C>T	TOPMed,gnomAD
rs769220144	p.Arg97Gly	missense variant	-	NC_000020.11:g.32784842C>G	TOPMed,gnomAD
RCV000636687	p.Arg97His	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32784843G>A	ClinVar
rs1255916022	p.Ser98Leu	missense variant	-	NC_000020.11:g.32784846C>T	TOPMed
rs529667183	p.Ser100Arg	missense variant	-	NC_000020.11:g.32784853C>G	1000Genomes,ExAC,gnomAD
rs751163668	p.Pro101Ser	missense variant	-	NC_000020.11:g.32784854C>T	ExAC,TOPMed,gnomAD
rs551752168	p.Arg104Gln	missense variant	-	NC_000020.11:g.32786506G>A	1000Genomes,ExAC,gnomAD
COSM1411116	p.Arg104Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32786505C>T	NCI-TCGA Cosmic
rs752000085	p.Thr105Ser	missense variant	-	NC_000020.11:g.32786509C>G	ExAC,TOPMed,gnomAD
rs200236170	p.Arg106Gln	missense variant	-	NC_000020.11:g.32786512G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3545289	p.Arg106Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32786511C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg106Leu	missense variant	-	NC_000020.11:g.32786512G>T	NCI-TCGA
rs781420920	p.Asn109Ser	missense variant	-	NC_000020.11:g.32786521A>G	ExAC,gnomAD
rs534208434	p.Val111Ile	missense variant	-	NC_000020.11:g.32786526G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs534208434	p.Val111Phe	missense variant	-	NC_000020.11:g.32786526G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs769854649	p.Ser112Cys	missense variant	-	NC_000020.11:g.32786530C>G	ExAC,gnomAD
rs749197342	p.Arg114Trp	missense variant	-	NC_000020.11:g.32786535C>T	ExAC,TOPMed,gnomAD
RCV000270418	p.Arg114Gln	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32786536G>A	ClinVar
rs546278202	p.Arg114Gln	missense variant	-	NC_000020.11:g.32786536G>A	ExAC,gnomAD
COSM1483543	p.Glu115Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32786538G>A	NCI-TCGA Cosmic
rs761700747	p.Glu115Asp	missense variant	-	NC_000020.11:g.32786540G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu115Gly	missense variant	-	NC_000020.11:g.32786539A>G	NCI-TCGA
NCI-TCGA novel	p.Arg116Ser	missense variant	-	NC_000020.11:g.32786543G>T	NCI-TCGA
rs1292171605	p.His117Gln	missense variant	-	NC_000020.11:g.32786546C>G	TOPMed
rs559899499	p.His117Tyr	missense variant	-	NC_000020.11:g.32786544C>T	1000Genomes,ExAC,gnomAD
rs773011198	p.Arg118Gly	missense variant	-	NC_000020.11:g.32786547A>G	ExAC,gnomAD
rs760460742	p.Pro119Thr	missense variant	-	NC_000020.11:g.32786550C>A	ExAC
rs1228962376	p.Pro119Leu	missense variant	-	NC_000020.11:g.32786551C>T	TOPMed
rs1468133028	p.Ser120Tyr	missense variant	-	NC_000020.11:g.32786554C>A	gnomAD
rs776317692	p.Ser120Ala	missense variant	-	NC_000020.11:g.32786553T>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro121Ser	missense variant	-	NC_000020.11:g.32786556C>T	NCI-TCGA
rs757657111	p.Arg122Pro	missense variant	-	NC_000020.11:g.32786560G>C	ExAC,TOPMed,gnomAD
rs757657111	p.Arg122His	missense variant	-	NC_000020.11:g.32786560G>A	ExAC,TOPMed,gnomAD
rs768468807	p.Arg122Cys	missense variant	-	NC_000020.11:g.32786559C>T	ExAC,gnomAD
COSM3991631	p.Arg122Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32786559C>G	NCI-TCGA Cosmic
rs767930436	p.Ser123Phe	missense variant	-	NC_000020.11:g.32786563C>T	ExAC,gnomAD
rs750643169	p.Thr124Ile	missense variant	-	NC_000020.11:g.32786566C>T	ExAC,gnomAD
rs1341617203	p.Arg125Gln	missense variant	-	NC_000020.11:g.32786569G>A	TOPMed,gnomAD
rs780085636	p.Gly126Ala	missense variant	-	NC_000020.11:g.32786572G>C	ExAC,gnomAD
rs754832933	p.Arg127Pro	missense variant	-	NC_000020.11:g.32786575G>C	ExAC,gnomAD
rs754832933	p.Arg127Gln	missense variant	-	NC_000020.11:g.32786575G>A	ExAC,gnomAD
rs538400808	p.Arg127Trp	missense variant	-	NC_000020.11:g.32786574C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs371009965	p.Arg130Cys	missense variant	-	NC_000020.11:g.32786583C>T	ESP,ExAC,TOPMed,gnomAD
rs773207465	p.Arg130His	missense variant	-	NC_000020.11:g.32786584G>A	ExAC,TOPMed,gnomAD
rs746628499	p.Asn131Lys	missense variant	-	NC_000020.11:g.32786588C>G	ExAC,gnomAD
rs770751820	p.His132Leu	missense variant	-	NC_000020.11:g.32786590A>T	ExAC,gnomAD
COSM3545293	p.His132Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32786589C>T	NCI-TCGA Cosmic
rs770751820	p.His132Arg	missense variant	-	NC_000020.11:g.32786590A>G	ExAC,gnomAD
rs759114947	p.Val133Ala	missense variant	-	NC_000020.11:g.32786593T>C	ExAC,TOPMed,gnomAD
rs774911505	p.Glu135Lys	missense variant	-	NC_000020.11:g.32786598G>A	ExAC,TOPMed,gnomAD
rs762297902	p.Ser136Tyr	missense variant	-	NC_000020.11:g.32786602C>A	ExAC,gnomAD
rs762297902	p.Ser136Phe	missense variant	-	NC_000020.11:g.32786602C>T	ExAC,gnomAD
rs756280552	p.Val138Leu	missense variant	-	NC_000020.11:g.32786607G>T	ExAC,gnomAD
rs756280552	p.Val138Met	missense variant	-	NC_000020.11:g.32786607G>A	ExAC,gnomAD
rs766619776	p.Pro141Leu	missense variant	-	NC_000020.11:g.32786617C>T	ExAC,TOPMed,gnomAD
rs766619776	p.Pro141Arg	missense variant	-	NC_000020.11:g.32786617C>G	ExAC,TOPMed,gnomAD
COSM3545297	p.Pro141Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32786616C>T	NCI-TCGA Cosmic
rs1299852823	p.Ala142Asp	missense variant	-	NC_000020.11:g.32786620C>A	gnomAD
rs1161625162	p.Leu146Arg	missense variant	-	NC_000020.11:g.32787234T>G	gnomAD
rs1457500486	p.Arg148Gln	missense variant	-	NC_000020.11:g.32787240G>A	gnomAD
rs745506485	p.Arg148Trp	missense variant	-	NC_000020.11:g.32787239C>T	ExAC,TOPMed,gnomAD
rs779571584	p.Arg149Gln	missense variant	-	NC_000020.11:g.32787243G>A	ExAC,gnomAD
rs200405601	p.Arg149Trp	missense variant	-	NC_000020.11:g.32787242C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748828546	p.Thr151Ala	missense variant	-	NC_000020.11:g.32787248A>G	ExAC,gnomAD
rs1230558112	p.Ser153Thr	missense variant	-	NC_000020.11:g.32787254T>A	gnomAD
rs147421711	p.Ser153Leu	missense variant	-	NC_000020.11:g.32787255C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147421711	p.Ser153Leu	missense variant	-	NC_000020.11:g.32787255C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1375673082	p.Ala154Gly	missense variant	-	NC_000020.11:g.32787258C>G	TOPMed
rs759777486	p.Thr156Lys	missense variant	-	NC_000020.11:g.32787264C>A	ExAC,TOPMed,gnomAD
rs759777486	p.Thr156Met	missense variant	-	NC_000020.11:g.32787264C>T	ExAC,TOPMed,gnomAD
rs1452078706	p.Pro157Ser	missense variant	-	NC_000020.11:g.32787266C>T	TOPMed
rs764064020	p.Pro159Leu	missense variant	-	NC_000020.11:g.32787273C>T	ExAC,gnomAD
rs764064020	p.Pro159Leu	missense variant	-	NC_000020.11:g.32787273C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM3545299	p.Pro159Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32787272C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro159Gln	missense variant	-	NC_000020.11:g.32787273C>A	NCI-TCGA
rs1178689157	p.Ser160Pro	missense variant	-	NC_000020.11:g.32787275T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro161Ala	missense variant	-	NC_000020.11:g.32787278C>G	NCI-TCGA
rs577793089	p.Ser163Asn	missense variant	-	NC_000020.11:g.32787285G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1286287492	p.Tyr165His	missense variant	-	NC_000020.11:g.32787290T>C	TOPMed
NCI-TCGA novel	p.Tyr165Cys	missense variant	-	NC_000020.11:g.32787291A>G	NCI-TCGA
NCI-TCGA novel	p.Thr167Ile	missense variant	-	NC_000020.11:g.32787297C>T	NCI-TCGA
rs1344773962	p.Ile168Val	missense variant	-	NC_000020.11:g.32787299A>G	TOPMed
rs375097618	p.Asp169Asn	missense variant	-	NC_000020.11:g.32787302G>A	ESP,ExAC,TOPMed,gnomAD
rs375097618	p.Asp169Asn	missense variant	-	NC_000020.11:g.32787302G>A	NCI-TCGA
rs1025251402	p.Thr171Arg	missense variant	-	NC_000020.11:g.32787309C>G	TOPMed
rs1025251402	p.Thr171Ile	missense variant	-	NC_000020.11:g.32787309C>T	TOPMed
rs202113400	p.Asp172Glu	missense variant	-	NC_000020.11:g.32787313C>G	ESP,ExAC,TOPMed,gnomAD
rs906767301	p.Asp173Asn	missense variant	-	NC_000020.11:g.32787314G>A	TOPMed,gnomAD
rs1176877272	p.Asp173Gly	missense variant	-	NC_000020.11:g.32787315A>G	gnomAD
NCI-TCGA novel	p.Asp173Tyr	missense variant	-	NC_000020.11:g.32787314G>T	NCI-TCGA
rs1444853007	p.Thr174Ile	missense variant	-	NC_000020.11:g.32787318C>T	gnomAD
rs1369174968	p.Thr174Ala	missense variant	-	NC_000020.11:g.32787317A>G	gnomAD
rs1369174968	p.Thr174Ala	missense variant	-	NC_000020.11:g.32787317A>G	NCI-TCGA
rs139477345	p.Glu175Lys	missense variant	-	NC_000020.11:g.32787320G>A	ESP
NCI-TCGA novel	p.Glu175Ter	stop gained	-	NC_000020.11:g.32787320G>T	NCI-TCGA
NCI-TCGA novel	p.Glu175Asp	missense variant	-	NC_000020.11:g.32787322G>T	NCI-TCGA
rs1362477544	p.Asp176Gly	missense variant	-	NC_000020.11:g.32787324A>G	TOPMed
rs1280453183	p.Thr177Ala	missense variant	-	NC_000020.11:g.32787326A>G	gnomAD
rs768144743	p.Gly179Arg	missense variant	-	NC_000020.11:g.32787332G>A	ExAC,gnomAD
COSM1411118	p.Gly179Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32787333G>T	NCI-TCGA Cosmic
rs537913125	p.Thr180Met	missense variant	-	NC_000020.11:g.32787336C>T	ExAC,gnomAD
rs747479840	p.Thr180Ala	missense variant	-	NC_000020.11:g.32787335A>G	ExAC,gnomAD
rs537913125	p.Thr180Met	missense variant	-	NC_000020.11:g.32787336C>T	NCI-TCGA
rs1033838676	p.Pro181Ser	missense variant	-	NC_000020.11:g.32787338C>T	TOPMed
rs777001888	p.Gln182Arg	missense variant	-	NC_000020.11:g.32787342A>G	ExAC,gnomAD
rs1273871968	p.Gln182Glu	missense variant	-	NC_000020.11:g.32787341C>G	gnomAD
rs369739363	p.Ser183Arg	missense variant	-	NC_000020.11:g.32787346C>A	ESP,ExAC,TOPMed,gnomAD
COSM3545303	p.Ser183Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32787345G>A	NCI-TCGA Cosmic
rs763323430	p.Ser185Asn	missense variant	-	NC_000020.11:g.32787351G>A	ExAC,gnomAD
rs775867512	p.Ser185Gly	missense variant	-	NC_000020.11:g.32787350A>G	ExAC,gnomAD
rs764239931	p.Thr186Ala	missense variant	-	NC_000020.11:g.32787353A>G	ExAC,gnomAD
rs774622592	p.Pro187Leu	missense variant	-	NC_000020.11:g.32787357C>T	ExAC,TOPMed,gnomAD
rs774622592	p.Pro187Arg	missense variant	-	NC_000020.11:g.32787357C>G	ExAC,TOPMed,gnomAD
RCV000413388	p.Tyr188Ter	frameshift	-	NC_000020.11:g.32787359dup	ClinVar
COSM1411120	p.Tyr188ThrPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32787354C>-	NCI-TCGA Cosmic
rs147591633	p.Ala189Thr	missense variant	-	NC_000020.11:g.32787362G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147591633	p.Ala189Ser	missense variant	-	NC_000020.11:g.32787362G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000556975	p.Ala189Thr	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32787362G>A	ClinVar
rs774138031	p.Arg190His	missense variant	-	NC_000020.11:g.32787366G>A	ExAC,TOPMed,gnomAD
rs140395707	p.Arg190Cys	missense variant	-	NC_000020.11:g.32787365C>T	ESP,ExAC,TOPMed,gnomAD
rs774138031	p.Arg190His	missense variant	-	NC_000020.11:g.32787366G>A	NCI-TCGA
rs754662792	p.Gln193Ter	stop gained	-	NC_000020.11:g.32787374C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln193His	missense variant	-	NC_000020.11:g.32787376G>T	NCI-TCGA
rs1446254980	p.Asp194Glu	missense variant	-	NC_000020.11:g.32787379C>G	gnomAD
COSM723108	p.Ser195Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32787381G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln196His	missense variant	-	NC_000020.11:g.32787385G>T	NCI-TCGA
rs747675921	p.Gln197His	missense variant	-	NC_000020.11:g.32787388G>T	ExAC,gnomAD
rs770040598	p.Gly198Glu	missense variant	-	NC_000020.11:g.32787390G>A	ExAC,TOPMed,gnomAD
rs61758433	p.Gly198Arg	missense variant	-	NC_000020.11:g.32787389G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61758433	p.Gly198Trp	missense variant	-	NC_000020.11:g.32787389G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61758433	p.Gly198Arg	missense variant	-	NC_000020.11:g.32787389G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770040598	p.Gly198Ala	missense variant	-	NC_000020.11:g.32787390G>C	ExAC,TOPMed,gnomAD
rs776039454	p.Gly199Asp	missense variant	-	NC_000020.11:g.32787393G>A	ExAC,gnomAD
rs749501031	p.Met200Val	missense variant	-	NC_000020.11:g.32787395A>G	ExAC,gnomAD
rs370244951	p.Ser202Phe	missense variant	-	NC_000020.11:g.32787402C>T	ExAC,gnomAD
rs370244951	p.Ser202Tyr	missense variant	-	NC_000020.11:g.32787402C>A	ExAC,gnomAD
rs147945634	p.Pro203Leu	missense variant	-	NC_000020.11:g.32787405C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1441646586	p.Pro203Ser	missense variant	-	NC_000020.11:g.32787404C>T	gnomAD
RCV000636690	p.Pro203Leu	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32787405C>T	ClinVar
rs1461904215	p.Gln204Lys	missense variant	-	NC_000020.11:g.32787407C>A	gnomAD
rs145326983	p.Ala207Thr	missense variant	-	NC_000020.11:g.32787416G>A	ESP,ExAC,TOPMed,gnomAD
rs145326983	p.Ala207Pro	missense variant	-	NC_000020.11:g.32787416G>C	ESP,ExAC,TOPMed,gnomAD
rs149227630	p.Asp208Ala	missense variant	-	NC_000020.11:g.32787420A>C	ESP
rs1278887797	p.Ser209Arg	missense variant	-	NC_000020.11:g.32787422A>C	TOPMed
rs1380291324	p.Gly210Glu	missense variant	-	NC_000020.11:g.32787426G>A	gnomAD
rs773013635	p.Gly210Arg	missense variant	-	NC_000020.11:g.32787425G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser214Ile	missense variant	-	NC_000020.11:g.32787438G>T	NCI-TCGA
rs760734960	p.Ser215Leu	missense variant	-	NC_000020.11:g.32787441C>T	ExAC,TOPMed,gnomAD
rs143402238	p.Glu216Gly	missense variant	-	NC_000020.11:g.32787444A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1178977405	p.Tyr217His	missense variant	-	NC_000020.11:g.32787446T>C	gnomAD
rs1291907040	p.Gln218His	missense variant	-	NC_000020.11:g.32787451G>C	TOPMed,gnomAD
rs376006476	p.Asp219Asn	missense variant	-	NC_000020.11:g.32788854G>A	ESP,ExAC,TOPMed,gnomAD
rs773384575	p.Gly220Glu	missense variant	-	NC_000020.11:g.32788858G>A	ExAC,gnomAD
RCV000722742	p.Gly226Glu	missense variant	-	NC_000020.11:g.32788876G>A	ClinVar
NCI-TCGA novel	p.Gly226Val	missense variant	-	NC_000020.11:g.32788876G>T	NCI-TCGA
rs760505841	p.Asp227Asn	missense variant	-	NC_000020.11:g.32788878G>A	ExAC,TOPMed,gnomAD
rs760505841	p.Asp227His	missense variant	-	NC_000020.11:g.32788878G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu228Arg	missense variant	-	NC_000020.11:g.32788882T>G	NCI-TCGA
NCI-TCGA novel	p.Leu228Phe	missense variant	-	NC_000020.11:g.32788881C>T	NCI-TCGA
COSM1025791	p.Val229Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32788884G>A	NCI-TCGA Cosmic
rs1345973894	p.Trp230Arg	missense variant	-	NC_000020.11:g.32788887T>A	gnomAD
rs964977606	p.Ser237Phe	missense variant	-	NC_000020.11:g.32788909C>T	TOPMed
COSM3545305	p.Pro240Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32788918C>T	NCI-TCGA Cosmic
rs867559860	p.Ala241Thr	missense variant	-	NC_000020.11:g.32788920G>A	gnomAD
rs763490983	p.Met242Ile	missense variant	-	NC_000020.11:g.32788925G>T	ExAC,TOPMed,gnomAD
rs762732247	p.Met242Thr	missense variant	-	NC_000020.11:g.32788924T>C	ExAC,gnomAD
rs199883886	p.Met242Leu	missense variant	-	NC_000020.11:g.32788923A>C	1000Genomes,ExAC,gnomAD
rs1180421296	p.Ser245Thr	missense variant	-	NC_000020.11:g.32788932T>A	gnomAD
rs780710615	p.Lys247Glu	missense variant	-	NC_000020.11:g.32788938A>G	ExAC,TOPMed,gnomAD
rs754201724	p.Arg252Gln	missense variant	-	NC_000020.11:g.32788954G>A	ExAC,gnomAD
rs754201724	p.Arg252Leu	missense variant	-	NC_000020.11:g.32788954G>T	ExAC,gnomAD
rs779489353	p.Gln253Arg	missense variant	-	NC_000020.11:g.32788957A>G	ExAC,TOPMed,gnomAD
rs996321864	p.Met255Val	missense variant	-	NC_000020.11:g.32788962A>G	TOPMed
rs1389467513	p.Gly257Asp	missense variant	-	NC_000020.11:g.32788969G>A	gnomAD
rs772383693	p.Arg259Gln	missense variant	-	NC_000020.11:g.32788975G>A	ExAC,TOPMed,gnomAD
rs1422196524	p.Arg259Trp	missense variant	-	NC_000020.11:g.32788974C>T	gnomAD
rs772383693	p.Arg259Pro	missense variant	-	NC_000020.11:g.32788975G>C	ExAC,TOPMed,gnomAD
COSM6159413	p.Trp260Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32788978G>C	NCI-TCGA Cosmic
rs770784575	p.Gln262Arg	missense variant	-	NC_000020.11:g.32788984A>G	ExAC,gnomAD
rs776562712	p.Trp263Ter	stop gained	-	NC_000020.11:g.32788987G>A	ExAC,gnomAD
rs1283808255	p.Asp266Glu	missense variant	-	NC_000020.11:g.32788997T>A	TOPMed,gnomAD
rs1357390175	p.Gly267Asp	missense variant	-	NC_000020.11:g.32788999G>A	gnomAD
rs121908947	p.Ser270Pro	missense variant	-	NC_000020.11:g.32789007T>C	-
rs121908947	p.Ser270Pro	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32789007T>C	UniProt,dbSNP
VAR_022579	p.Ser270Pro	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32789007T>C	UniProt
COSM418988	p.Ser270Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32789008C>G	NCI-TCGA Cosmic
RCV000007137	p.Ser270Pro	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32789007T>C	ClinVar
rs757314027	p.Val272Ile	missense variant	-	NC_000020.11:g.32791601G>A	ExAC,TOPMed
rs1327110669	p.Ser273Phe	missense variant	-	NC_000020.11:g.32791605C>T	TOPMed
rs781314471	p.Val278Met	missense variant	-	NC_000020.11:g.32791619G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu280Pro	missense variant	-	NC_000020.11:g.32791626T>C	NCI-TCGA
NCI-TCGA novel	p.Ala290Thr	missense variant	-	NC_000020.11:g.32791655G>A	NCI-TCGA
rs1330365498	p.Thr291Ala	missense variant	-	NC_000020.11:g.32791658A>G	TOPMed
rs1243294012	p.Leu295Val	missense variant	-	NC_000020.11:g.32791670C>G	gnomAD
rs145632647	p.Val296Ile	missense variant	-	NC_000020.11:g.32791673G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145632647	p.Val296Leu	missense variant	-	NC_000020.11:g.32791673G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145632647	p.Val296Ile	missense variant	-	NC_000020.11:g.32791673G>A	NCI-TCGA
RCV000702299	p.Val296Ile	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32791673G>A	ClinVar
RCV000483268	p.Val296Ile	missense variant	-	NC_000020.11:g.32791673G>A	ClinVar
NCI-TCGA novel	p.Tyr298Phe	missense variant	-	NC_000020.11:g.32791680A>T	NCI-TCGA
COSM1025793	p.Arg299Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32791682C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg299Gln	missense variant	-	NC_000020.11:g.32791683G>A	NCI-TCGA
rs1391383394	p.Met302Thr	missense variant	-	NC_000020.11:g.32791692T>C	TOPMed
RCV000265593	p.Met302Val	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32791691A>G	ClinVar
rs768136416	p.Met302Val	missense variant	-	NC_000020.11:g.32791691A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu307Asp	missense variant	-	NC_000020.11:g.32791708G>T	NCI-TCGA
rs1362721885	p.Ala309Val	missense variant	-	NC_000020.11:g.32792630C>T	gnomAD
rs760264212	p.Val311Met	missense variant	-	NC_000020.11:g.32792635G>A	ExAC,TOPMed,gnomAD
rs760264212	p.Val311Leu	missense variant	-	NC_000020.11:g.32792635G>C	ExAC,TOPMed,gnomAD
rs763435705	p.Arg312Leu	missense variant	-	NC_000020.11:g.32792639G>T	ExAC,TOPMed,gnomAD
COSM2889529	p.Arg312Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32792638C>T	NCI-TCGA Cosmic
rs764487838	p.Gly314Asp	missense variant	-	NC_000020.11:g.32792645G>A	ExAC,gnomAD
rs951488082	p.Gly314Ser	missense variant	-	NC_000020.11:g.32792644G>A	TOPMed,gnomAD
rs138369083	p.Thr316Asn	missense variant	-	NC_000020.11:g.32792651C>A	ESP,ExAC,gnomAD
rs138369083	p.Thr316Ile	missense variant	-	NC_000020.11:g.32792651C>T	ESP,ExAC,gnomAD
rs1239545223	p.Pro318Arg	missense variant	-	NC_000020.11:g.32792657C>G	TOPMed
rs1239545223	p.Pro318Arg	missense variant	-	NC_000020.11:g.32792657C>G	NCI-TCGA
rs761984399	p.Ser319Cys	missense variant	-	NC_000020.11:g.32792659A>T	ExAC,gnomAD
rs886056613	p.Ser320Arg	missense variant	-	NC_000020.11:g.32792664C>A	-
RCV000380044	p.Ser320Arg	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32792664C>A	ClinVar
rs767733477	p.Pro321Leu	missense variant	-	NC_000020.11:g.32792666C>T	ExAC,gnomAD
rs767733477	p.Pro321Arg	missense variant	-	NC_000020.11:g.32792666C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser324Leu	missense variant	-	NC_000020.11:g.32792675C>T	NCI-TCGA
rs140978291	p.Leu325Met	missense variant	-	NC_000020.11:g.32792677T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368635669	p.Glu326Ala	missense variant	-	NC_000020.11:g.32792681A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln328Glu	missense variant	-	NC_000020.11:g.32792686C>G	NCI-TCGA
NCI-TCGA novel	p.Trp335Arg	missense variant	-	NC_000020.11:g.32792707T>C	NCI-TCGA
rs1013448701	p.Gly338Arg	missense variant	-	NC_000020.11:g.32792716G>A	gnomAD
rs1013448701	p.Gly338Arg	missense variant	-	NC_000020.11:g.32792716G>A	NCI-TCGA
rs754921958	p.Gly339Asp	missense variant	-	NC_000020.11:g.32792720G>A	ExAC,gnomAD
rs754921958	p.Gly339Val	missense variant	-	NC_000020.11:g.32792720G>T	ExAC,gnomAD
rs1430704492	p.Phe340Leu	missense variant	-	NC_000020.11:g.32792722T>C	gnomAD
rs747983703	p.Lys341Glu	missense variant	-	NC_000020.11:g.32792725A>G	ExAC,gnomAD
rs771781648	p.Thr343Ala	missense variant	-	NC_000020.11:g.32792731A>G	ExAC,gnomAD
rs150148922	p.Ile345Met	missense variant	-	NC_000020.11:g.32792739C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu346Lys	missense variant	-	NC_000020.11:g.32792740G>A	NCI-TCGA
rs770469129	p.Gly347Val	missense variant	-	NC_000020.11:g.32792744G>T	ExAC,gnomAD
COSM723106	p.Gly347Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32792744G>A	NCI-TCGA Cosmic
rs1432193518	p.Pro350His	missense variant	-	NC_000020.11:g.32792753C>A	TOPMed
rs776044883	p.Asn351Ser	missense variant	-	NC_000020.11:g.32792756A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn352Thr	missense variant	-	NC_000020.11:g.32792759A>C	NCI-TCGA
rs763492333	p.Thr353Arg	missense variant	-	NC_000020.11:g.32792762C>G	ExAC,TOPMed,gnomAD
rs763492333	p.Thr353Lys	missense variant	-	NC_000020.11:g.32792762C>A	ExAC,TOPMed,gnomAD
rs763492333	p.Thr353Met	missense variant	-	NC_000020.11:g.32792762C>T	ExAC,TOPMed,gnomAD
rs763492333	p.Thr353Met	missense variant	-	NC_000020.11:g.32792762C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1158754730	p.Gln354Ter	stop gained	-	NC_000020.11:g.32792764C>T	TOPMed
NCI-TCGA novel	p.Val356Ala	missense variant	-	NC_000020.11:g.32793536T>C	NCI-TCGA
rs760904691	p.Asn358Ile	missense variant	-	NC_000020.11:g.32793542A>T	ExAC,gnomAD
rs760904691	p.Asn358Ser	missense variant	-	NC_000020.11:g.32793542A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys359Met	missense variant	-	NC_000020.11:g.32793545A>T	NCI-TCGA
rs766544393	p.Ser360Leu	missense variant	-	NC_000020.11:g.32793548C>T	ExAC,TOPMed,gnomAD
rs759545374	p.Lys361Asn	missense variant	-	NC_000020.11:g.32793552G>C	ExAC,gnomAD
rs886056614	p.Val362Leu	missense variant	-	NC_000020.11:g.32793553G>T	-
RCV000317127	p.Val362Leu	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32793553G>T	ClinVar
rs113400552	p.Arg363Cys	missense variant	-	NC_000020.11:g.32793556C>T	TOPMed,gnomAD
rs138596278	p.Arg363His	missense variant	-	NC_000020.11:g.32793557G>A	ESP,ExAC,TOPMed,gnomAD
rs752673059	p.Arg364Cys	missense variant	-	NC_000020.11:g.32793559C>T	ExAC,gnomAD
rs369336236	p.Arg364His	missense variant	-	NC_000020.11:g.32793560G>A	ESP,ExAC,TOPMed,gnomAD
rs763959693	p.Ala365Val	missense variant	-	NC_000020.11:g.32793563C>T	ExAC,TOPMed,gnomAD
rs756893516	p.Gly366Asp	missense variant	-	NC_000020.11:g.32793566G>A	ExAC,gnomAD
rs1020909881	p.Ser367Asn	missense variant	-	NC_000020.11:g.32793569G>A	TOPMed,gnomAD
rs1462697117	p.Arg368Trp	missense variant	-	NC_000020.11:g.32793571A>T	TOPMed
rs780723199	p.Lys369Gln	missense variant	-	NC_000020.11:g.32793574A>C	ExAC,gnomAD
rs745594445	p.Ser372Pro	missense variant	-	NC_000020.11:g.32793583T>C	ExAC,gnomAD
rs201681031	p.Glu376Lys	missense variant	-	NC_000020.11:g.32793595G>A	ESP,ExAC,TOPMed,gnomAD
rs779492871	p.Glu376Asp	missense variant	-	NC_000020.11:g.32795410G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu376Asp	missense variant	-	NC_000020.11:g.32795410G>T	NCI-TCGA
rs1361035589	p.Thr379Ile	missense variant	-	NC_000020.11:g.32795418C>T	TOPMed
rs376213530	p.Arg380Ter	stop gained	-	NC_000020.11:g.32795420C>T	ESP,ExAC,TOPMed,gnomAD
rs148132847	p.Arg380Gln	missense variant	-	NC_000020.11:g.32795421G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs148132847	p.Arg380Gln	missense variant	-	NC_000020.11:g.32795421G>A	NCI-TCGA,NCI-TCGA Cosmic
rs376213530	p.Arg380Ter	stop gained	-	NC_000020.11:g.32795420C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1157629152	p.Arg381Ser	missense variant	-	NC_000020.11:g.32795425A>C	gnomAD
rs771192296	p.Arg382His	missense variant	-	NC_000020.11:g.32795427G>A	ExAC,gnomAD
rs771192296	p.Arg382Leu	missense variant	-	NC_000020.11:g.32795427G>T	ExAC,gnomAD
rs35846833	p.Arg382Cys	missense variant	-	NC_000020.11:g.32795426C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000524057	p.Arg382Cys	missense variant	-	NC_000020.11:g.32795426C>T	ClinVar
RCV000529046	p.Arg382Cys	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32795426C>T	ClinVar
RCV000541530	p.Ala384Thr	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32795432G>A	ClinVar
rs150682895	p.Ala384Thr	missense variant	-	NC_000020.11:g.32795432G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763129781	p.Asp386Asn	missense variant	-	NC_000020.11:g.32795438G>A	ExAC,TOPMed,gnomAD
rs763129781	p.Asp386His	missense variant	-	NC_000020.11:g.32795438G>C	ExAC,TOPMed,gnomAD
rs768839073	p.Ser387Pro	missense variant	-	NC_000020.11:g.32795441T>C	ExAC,gnomAD
rs1006325628	p.Ser387Leu	missense variant	-	NC_000020.11:g.32795442C>T	TOPMed
rs774150930	p.Ala388Val	missense variant	-	NC_000020.11:g.32795445C>T	ExAC,gnomAD
rs774150930	p.Ala388Asp	missense variant	-	NC_000020.11:g.32795445C>A	ExAC,gnomAD
rs750243629	p.Asp391Tyr	missense variant	-	NC_000020.11:g.32795453G>T	ExAC,TOPMed,gnomAD
rs1291723327	p.Tyr392Cys	missense variant	-	NC_000020.11:g.32795457A>G	gnomAD
rs1240916230	p.Tyr392His	missense variant	-	NC_000020.11:g.32795456T>C	TOPMed,gnomAD
rs1268577906	p.Ala395Val	missense variant	-	NC_000020.11:g.32795466C>T	TOPMed,gnomAD
rs753291521	p.Ala395Thr	missense variant	-	NC_000020.11:g.32795465G>A	ExAC,TOPMed,gnomAD
rs753291521	p.Ala395Pro	missense variant	-	NC_000020.11:g.32795465G>C	ExAC,TOPMed,gnomAD
rs753291521	p.Ala395Thr	missense variant	-	NC_000020.11:g.32795465G>A	NCI-TCGA,NCI-TCGA Cosmic
rs138171867	p.Pro396Ser	missense variant	-	NC_000020.11:g.32795468C>T	ESP,ExAC,TOPMed,gnomAD
rs778547539	p.Arg398Cys	missense variant	-	NC_000020.11:g.32795474C>T	ExAC,gnomAD
rs751976489	p.Arg398His	missense variant	-	NC_000020.11:g.32795475G>A	ExAC,gnomAD
rs751976489	p.Arg398His	missense variant	-	NC_000020.11:g.32795475G>A	NCI-TCGA,NCI-TCGA Cosmic
rs373908368	p.Leu399Phe	missense variant	-	NC_000020.11:g.32795477C>T	ESP,ExAC,TOPMed,gnomAD
rs1158669480	p.Lys400Gln	missense variant	-	NC_000020.11:g.32795480A>C	gnomAD
rs1445252390	p.Thr401Ile	missense variant	-	NC_000020.11:g.32795484C>T	TOPMed
rs1302172329	p.Thr401Ala	missense variant	-	NC_000020.11:g.32795483A>G	TOPMed
rs1422711899	p.Cys403Tyr	missense variant	-	NC_000020.11:g.32795490G>A	gnomAD
RCV000687250	p.Cys403Tyr	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32795490_32795491delinsAT	ClinVar
rs143462810	p.Tyr404Cys	missense variant	-	NC_000020.11:g.32795493A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000578148	p.Tyr404Cys	missense variant	Kabuki syndrome 1 (KABUK1)	NC_000020.11:g.32795493A>G	ClinVar
rs749589186	p.Asn406Asp	missense variant	-	NC_000020.11:g.32795498A>G	ExAC,gnomAD
rs148646143	p.Gly407Ser	missense variant	-	NC_000020.11:g.32795501G>A	ESP,ExAC,TOPMed,gnomAD
RCV000282009	p.Gly407Ser	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32795501G>A	ClinVar
rs772079891	p.Arg410Gln	missense variant	-	NC_000020.11:g.32795511G>A	ExAC,TOPMed,gnomAD
rs772928880	p.Asp412Tyr	missense variant	-	NC_000020.11:g.32795516G>T	ExAC,gnomAD
COSM1495031	p.Gln415Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32795525C>A	NCI-TCGA Cosmic
rs766216373	p.Ser416Gly	missense variant	-	NC_000020.11:g.32795528A>G	ExAC,gnomAD
rs1458849374	p.Arg417Ter	stop gained	-	NC_000020.11:g.32795531C>T	gnomAD
rs753480369	p.Arg417Gln	missense variant	-	NC_000020.11:g.32795532G>A	ExAC,TOPMed,gnomAD
rs1458849374	p.Arg417Ter	stop gained	-	NC_000020.11:g.32795531C>T	NCI-TCGA Cosmic
rs1223208192	p.Met420Val	missense variant	-	NC_000020.11:g.32795655A>G	gnomAD
rs1282274366	p.Ala421Thr	missense variant	-	NC_000020.11:g.32795658G>A	gnomAD
rs763754806	p.Ala421Val	missense variant	-	NC_000020.11:g.32795659C>T	ExAC,gnomAD
rs1282274366	p.Ala421Thr	missense variant	-	NC_000020.11:g.32795658G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser422Leu	missense variant	-	NC_000020.11:g.32795662C>T	NCI-TCGA
rs750930751	p.Asp423Tyr	missense variant	-	NC_000020.11:g.32795664G>T	ExAC,gnomAD
rs1024581545	p.Asn427Ser	missense variant	-	NC_000020.11:g.32795677A>G	TOPMed
rs1264777380	p.Asn427Asp	missense variant	-	NC_000020.11:g.32795676A>G	TOPMed
rs756734821	p.Asn427Lys	missense variant	-	NC_000020.11:g.32795678C>G	ExAC,gnomAD
rs1024581545	p.Asn427Ile	missense variant	-	NC_000020.11:g.32795677A>T	TOPMed
rs1203334353	p.Ser429Asn	missense variant	-	NC_000020.11:g.32795683G>A	gnomAD
NCI-TCGA novel	p.Ser429Ile	missense variant	-	NC_000020.11:g.32795683G>T	NCI-TCGA
NCI-TCGA novel	p.Ser430Asn	missense variant	-	NC_000020.11:g.32795686G>A	NCI-TCGA
NCI-TCGA novel	p.Leu431PhePheSerTerUnkUnkUnk	frameshift	-	NC_000020.11:g.32795684_32795685insTCATTCAA	NCI-TCGA
rs1424661368	p.Asp433Gly	missense variant	-	NC_000020.11:g.32796790A>G	TOPMed,gnomAD
rs774022931	p.Gly434Asp	missense variant	-	NC_000020.11:g.32796793G>A	ExAC,gnomAD
rs563597562	p.Ser437Pro	missense variant	-	NC_000020.11:g.32796801T>C	1000Genomes,ExAC,gnomAD
rs767000333	p.Arg440Lys	missense variant	-	NC_000020.11:g.32796811G>A	ExAC,gnomAD
rs755360302	p.Lys441Arg	missense variant	-	NC_000020.11:g.32796814A>G	ExAC,gnomAD
rs77949371	p.Lys441Glu	missense variant	-	NC_000020.11:g.32796813A>G	ExAC,gnomAD
rs1245224488	p.Asn442Thr	missense variant	-	NC_000020.11:g.32796817A>C	NCI-TCGA
rs1245224488	p.Asn442Thr	missense variant	-	NC_000020.11:g.32796817A>C	gnomAD
rs765591135	p.Asn442Lys	missense variant	-	NC_000020.11:g.32796818C>A	ExAC,gnomAD
rs752929250	p.Pro443Ala	missense variant	-	NC_000020.11:g.32796819C>G	ExAC,TOPMed,gnomAD
rs530689863	p.Pro443Leu	missense variant	-	NC_000020.11:g.32796820C>T	1000Genomes,TOPMed,gnomAD
rs752929250	p.Pro443Ser	missense variant	-	NC_000020.11:g.32796819C>T	ExAC,TOPMed,gnomAD
rs201465442	p.Val444Met	missense variant	-	NC_000020.11:g.32796822G>A	ESP,ExAC,TOPMed,gnomAD
rs201465442	p.Val444Leu	missense variant	-	NC_000020.11:g.32796822G>C	ESP,ExAC,TOPMed,gnomAD
RCV000479168	p.Val444Met	missense variant	-	NC_000020.11:g.32796822G>A	ClinVar
rs150736372	p.Phe446Ser	missense variant	-	NC_000020.11:g.32796829T>C	ESP,ExAC,TOPMed,gnomAD
rs757117952	p.Leu449Val	missense variant	-	NC_000020.11:g.32796837C>G	ExAC,TOPMed,gnomAD
rs757117952	p.Leu449Phe	missense variant	-	NC_000020.11:g.32796837C>T	ExAC,TOPMed,gnomAD
rs200912653	p.Glu451Asp	missense variant	-	NC_000020.11:g.32796845G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu451Ter	stop gained	-	NC_000020.11:g.32796843G>T	NCI-TCGA
rs1555839317	p.Gly452Arg	missense variant	-	NC_000020.11:g.32796846G>C	-
rs1406343280	p.Gly452Val	missense variant	-	NC_000020.11:g.32796847G>T	gnomAD
RCV000497771	p.Gly452Arg	missense variant	-	NC_000020.11:g.32796846G>C	ClinVar
rs769626009	p.Gly453Ala	missense variant	-	NC_000020.11:g.32796850G>C	ExAC,gnomAD
rs546965300	p.Leu454Val	missense variant	-	NC_000020.11:g.32796852C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs546965300	p.Leu454Phe	missense variant	-	NC_000020.11:g.32796852C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM1411123	p.Leu454SerPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32796845G>-	NCI-TCGA Cosmic
rs1377006899	p.Thr457Pro	missense variant	-	NC_000020.11:g.32796861A>C	TOPMed,gnomAD
rs1377006899	p.Thr457Ala	missense variant	-	NC_000020.11:g.32796861A>G	TOPMed,gnomAD
rs891753303	p.Cys458Arg	missense variant	-	NC_000020.11:g.32796864T>C	TOPMed
rs771769549	p.Arg459Gln	missense variant	-	NC_000020.11:g.32796868G>A	ExAC,gnomAD
rs1169940446	p.Arg461Cys	missense variant	-	NC_000020.11:g.32797190C>T	TOPMed
rs768977355	p.Arg461His	missense variant	-	NC_000020.11:g.32797191G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu464Gln	missense variant	-	NC_000020.11:g.32797199G>C	NCI-TCGA
rs1460250495	p.Tyr467Ser	missense variant	-	NC_000020.11:g.32797209A>C	TOPMed
rs189867424	p.Met468Thr	missense variant	-	NC_000020.11:g.32797212T>C	1000Genomes
rs189867424	p.Met468Lys	missense variant	-	NC_000020.11:g.32797212T>A	1000Genomes
rs1456216460	p.Tyr469Cys	missense variant	-	NC_000020.11:g.32797215A>G	gnomAD
NCI-TCGA novel	p.Asp471Ala	missense variant	-	NC_000020.11:g.32797221A>C	NCI-TCGA
rs767639124	p.Asp472Tyr	missense variant	-	NC_000020.11:g.32797223G>T	ExAC,gnomAD
rs377551093	p.Tyr474Cys	missense variant	-	NC_000020.11:g.32797230A>G	ESP,ExAC,gnomAD
rs1447560356	p.Tyr477Ter	stop gained	-	NC_000020.11:g.32797239dup	gnomAD
rs1339280595	p.Val480Met	missense variant	-	NC_000020.11:g.32797247G>A	gnomAD
rs1247590332	p.Cys481Ser	missense variant	-	NC_000020.11:g.32797250T>A	gnomAD
COSM1713333	p.Glu483Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32797256G>A	NCI-TCGA Cosmic
rs867242533	p.Arg485Gln	missense variant	-	NC_000020.11:g.32797263G>A	TOPMed,gnomAD
RCV000521490	p.Arg485Gln	missense variant	-	NC_000020.11:g.32797263G>A	ClinVar
NCI-TCGA novel	p.Arg485Leu	missense variant	-	NC_000020.11:g.32797263G>T	NCI-TCGA
rs753800000	p.Asn492Ser	missense variant	-	NC_000020.11:g.32797284A>G	ExAC
rs755018555	p.Thr493Arg	missense variant	-	NC_000020.11:g.32797287C>G	ExAC,TOPMed,gnomAD
rs1184895593	p.Thr493Ala	missense variant	-	NC_000020.11:g.32797286A>G	TOPMed
rs755018555	p.Thr493Met	missense variant	-	NC_000020.11:g.32797287C>T	ExAC,TOPMed,gnomAD
rs755018555	p.Thr493Met	missense variant	-	NC_000020.11:g.32797287C>T	NCI-TCGA,NCI-TCGA Cosmic
rs777301633	p.Arg497Gln	missense variant	-	NC_000020.11:g.32797299G>A	ExAC,gnomAD
rs757998715	p.Arg497Trp	missense variant	-	NC_000020.11:g.32797298C>T	ExAC,gnomAD
rs757998715	p.Arg497Trp	missense variant	-	NC_000020.11:g.32797298C>T	NCI-TCGA
rs1325284333	p.Glu502Asp	missense variant	-	NC_000020.11:g.32798475G>T	TOPMed
NCI-TCGA novel	p.Cys503Ter	stop gained	-	NC_000020.11:g.32798478C>A	NCI-TCGA
rs994652433	p.Val506Met	missense variant	-	NC_000020.11:g.32798485G>A	gnomAD
rs1300094609	p.Val508Leu	missense variant	-	NC_000020.11:g.32798491G>T	gnomAD
rs1309967185	p.Gly509Ser	missense variant	-	NC_000020.11:g.32798494G>A	gnomAD
rs1234722923	p.Thr510Ile	missense variant	-	NC_000020.11:g.32798498C>T	gnomAD
NCI-TCGA novel	p.Thr510Arg	missense variant	-	NC_000020.11:g.32798498C>G	NCI-TCGA
rs200573841	p.Gly511Asp	missense variant	-	NC_000020.11:g.32798501G>A	-
rs200573841	p.Gly511Asp	missense variant	-	NC_000020.11:g.32798501G>A	NCI-TCGA,NCI-TCGA Cosmic
rs768306131	p.Thr512Ile	missense variant	-	NC_000020.11:g.32798504C>T	gnomAD
rs116943489	p.Ala513Glu	missense variant	-	NC_000020.11:g.32798507C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116943489	p.Ala513Val	missense variant	-	NC_000020.11:g.32798507C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1488463962	p.Ala514Ser	missense variant	-	NC_000020.11:g.32798509G>T	gnomAD
rs1156799209	p.Ala514Gly	missense variant	-	NC_000020.11:g.32798510C>G	gnomAD
rs747146892	p.Glu515Lys	missense variant	-	NC_000020.11:g.32798512G>A	ExAC,TOPMed,gnomAD
rs771313778	p.Ala516Val	missense variant	-	NC_000020.11:g.32798516C>T	ExAC,TOPMed,gnomAD
rs759705660	p.Lys517Arg	missense variant	-	NC_000020.11:g.32798519A>G	ExAC,gnomAD
rs776788630	p.Lys517Glu	missense variant	-	NC_000020.11:g.32798518A>G	ExAC,gnomAD
rs1241812878	p.Glu520Val	missense variant	-	NC_000020.11:g.32798528A>T	TOPMed
rs1292607347	p.Pro521Thr	missense variant	-	NC_000020.11:g.32798530C>A	gnomAD
rs6058891	p.Cys524Ter	stop gained	-	NC_000020.11:g.32798541T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1388120453	p.Tyr525His	missense variant	-	NC_000020.11:g.32798542T>C	gnomAD
rs1237892253	p.Met526Ile	missense variant	-	NC_000020.11:g.32798547G>A	TOPMed,gnomAD
rs1237892253	p.Met526Ile	missense variant	-	NC_000020.11:g.32798547G>T	TOPMed,gnomAD
rs763775814	p.Met526Leu	missense variant	-	NC_000020.11:g.32798545A>T	ExAC,gnomAD
NCI-TCGA novel	p.Met526Arg	missense variant	-	NC_000020.11:g.32798546T>G	NCI-TCGA
VAR_077527	p.Cys527Arg	Missense	Facioscapulohumeral muscular dystrophy 2 (FSHD2) [MIM:158901]	-	UniProt
rs555582979	p.Leu528Pro	missense variant	-	NC_000020.11:g.32798552T>C	1000Genomes,ExAC,gnomAD
rs960330899	p.Leu528Phe	missense variant	-	NC_000020.11:g.32798551C>T	TOPMed
rs767169378	p.Pro529Leu	missense variant	-	NC_000020.11:g.32798555C>T	ExAC,TOPMed,gnomAD
rs761304747	p.Pro529Ser	missense variant	-	NC_000020.11:g.32798554C>T	ExAC,gnomAD
rs761304747	p.Pro529Thr	missense variant	-	NC_000020.11:g.32798554C>A	ExAC,gnomAD
rs767169378	p.Pro529Leu	missense variant	-	NC_000020.11:g.32798555C>T	NCI-TCGA
rs374520428	p.Arg531His	missense variant	-	NC_000020.11:g.32798561G>A	ESP,ExAC,TOPMed,gnomAD
rs374520428	p.Arg531Pro	missense variant	-	NC_000020.11:g.32798561G>C	ESP,ExAC,TOPMed,gnomAD
rs200511977	p.Arg531Cys	missense variant	-	NC_000020.11:g.32798560C>T	ESP,ExAC,TOPMed,gnomAD
rs1237706309	p.Cys532Arg	missense variant	-	NC_000020.11:g.32798563T>C	gnomAD
NCI-TCGA novel	p.Cys532Gly	missense variant	-	NC_000020.11:g.32798563T>G	NCI-TCGA
rs758963586	p.His533Asn	missense variant	-	NC_000020.11:g.32798566C>A	ExAC,TOPMed,gnomAD
rs1181056763	p.Gly534Asp	missense variant	-	NC_000020.11:g.32798570G>A	gnomAD
rs1163172380	p.Val535Ala	missense variant	-	NC_000020.11:g.32798573T>C	gnomAD
rs200193299	p.Val535Ile	missense variant	-	NC_000020.11:g.32798572G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs544333946	p.Arg537Gln	missense variant	-	NC_000020.11:g.32798579G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771223602	p.Arg537Trp	missense variant	-	NC_000020.11:g.32798578C>T	ExAC,TOPMed,gnomAD
rs771223602	p.Arg537Trp	missense variant	-	NC_000020.11:g.32798578C>T	NCI-TCGA,NCI-TCGA Cosmic
rs987153673	p.Arg538Cys	missense variant	-	NC_000020.11:g.32798581C>T	TOPMed
rs987153673	p.Arg538Cys	missense variant	-	NC_000020.11:g.32798581C>T	NCI-TCGA
rs562665925	p.Arg539Trp	missense variant	-	NC_000020.11:g.32798584C>T	1000Genomes,ExAC,gnomAD
rs1051749732	p.Arg539Gln	missense variant	-	NC_000020.11:g.32798585G>A	TOPMed,gnomAD
rs1051749732	p.Arg539Gln	missense variant	-	NC_000020.11:g.32798585G>A	NCI-TCGA
rs1227641097	p.Trp542Cys	missense variant	-	NC_000020.11:g.32798595G>C	gnomAD
rs775688885	p.Val544Leu	missense variant	-	NC_000020.11:g.32798599G>T	ExAC,TOPMed,gnomAD
rs775688885	p.Val544Met	missense variant	-	NC_000020.11:g.32798599G>A	ExAC,TOPMed,gnomAD
rs572676072	p.Arg545His	missense variant	-	NC_000020.11:g.32798603G>A	ExAC,TOPMed,gnomAD
rs372550911	p.Arg545Cys	missense variant	-	NC_000020.11:g.32798602C>T	ESP,ExAC,TOPMed,gnomAD
rs372550911	p.Arg545Cys	missense variant	-	NC_000020.11:g.32798602C>T	NCI-TCGA,NCI-TCGA Cosmic
rs572676072	p.Arg545His	missense variant	-	NC_000020.11:g.32798603G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1179565655	p.Gln547Pro	missense variant	-	NC_000020.11:g.32798609A>C	gnomAD
rs773958724	p.Phe549Leu	missense variant	-	NC_000020.11:g.32798616C>A	ExAC,gnomAD
rs773958724	p.Phe549Leu	missense variant	-	NC_000020.11:g.32798616C>A	NCI-TCGA,NCI-TCGA Cosmic
rs1238835071	p.Ser552Asn	missense variant	-	NC_000020.11:g.32798624G>A	gnomAD
rs1200658023	p.Ser552Gly	missense variant	-	NC_000020.11:g.32798623A>G	gnomAD
rs577581342	p.Thr554Met	missense variant	-	NC_000020.11:g.32798630C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1483248749	p.Thr554Pro	missense variant	-	NC_000020.11:g.32798629A>C	gnomAD
rs1424695736	p.Gly555Val	missense variant	-	NC_000020.11:g.32798633G>T	TOPMed,gnomAD
rs1422403201	p.Glu557Lys	missense variant	-	NC_000020.11:g.32798638G>A	gnomAD
rs1173904784	p.Ala560Thr	missense variant	-	NC_000020.11:g.32799247G>A	gnomAD
COSM3545309	p.Pro565Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32799262C>T	NCI-TCGA Cosmic
rs773010625	p.Ile567Val	missense variant	-	NC_000020.11:g.32799268A>G	ExAC,gnomAD
rs375825329	p.Ile567Thr	missense variant	-	NC_000020.11:g.32799269T>C	ESP,ExAC,TOPMed,gnomAD
rs952998177	p.Ala569Val	missense variant	-	NC_000020.11:g.32799275C>T	TOPMed
rs1007955291	p.Ala569Thr	missense variant	-	NC_000020.11:g.32799274G>A	gnomAD
rs1007955291	p.Ala569Ser	missense variant	-	NC_000020.11:g.32799274G>T	gnomAD
rs1217503696	p.Ala570Val	missense variant	-	NC_000020.11:g.32799278C>T	gnomAD
rs775949142	p.Arg571Ter	stop gained	-	NC_000020.11:g.32799280C>T	ExAC,gnomAD
rs778795266	p.Arg571Leu	missense variant	-	NC_000020.11:g.32799281G>T	ExAC,TOPMed,gnomAD
rs778795266	p.Arg571Gln	missense variant	-	NC_000020.11:g.32799281G>A	NCI-TCGA,NCI-TCGA Cosmic
rs778795266	p.Arg571Gln	missense variant	-	NC_000020.11:g.32799281G>A	ExAC,TOPMed,gnomAD
COSM1411127	p.Arg572Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32799285G>C	NCI-TCGA Cosmic
rs764722946	p.Arg573Trp	missense variant	-	NC_000020.11:g.32799286C>T	ExAC,TOPMed,gnomAD
rs143300013	p.Arg573Gln	missense variant	-	NC_000020.11:g.32799287G>A	ESP,ExAC,TOPMed,gnomAD
rs764722946	p.Arg573Trp	missense variant	-	NC_000020.11:g.32799286C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1226308460	p.Arg576Ter	stop gained	-	NC_000020.11:g.32799295C>T	TOPMed
rs757889243	p.Arg576Gln	missense variant	-	NC_000020.11:g.32799296G>A	ExAC,gnomAD
rs757889243	p.Arg576Gln	missense variant	-	NC_000020.11:g.32799296G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1226308460	p.Arg576Ter	stop gained	-	NC_000020.11:g.32799295C>T	NCI-TCGA Cosmic
rs1330985113	p.Val577Ile	missense variant	-	NC_000020.11:g.32799298G>A	TOPMed
rs1242298577	p.Ile584Leu	missense variant	-	NC_000020.11:g.32799319A>C	TOPMed,gnomAD
rs1242298577	p.Ile584Val	missense variant	-	NC_000020.11:g.32799319A>G	TOPMed,gnomAD
rs750849178	p.Ala585Thr	missense variant	-	NC_000020.11:g.32799322G>A	ExAC,gnomAD
COSM4097607	p.Ala585Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32799323C>T	NCI-TCGA Cosmic
VAR_011506	p.Ala585Val	Missense	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]	-	UniProt
rs148312208	p.Gly587Asp	missense variant	-	NC_000020.11:g.32800153G>A	ESP,ExAC,gnomAD
rs1435332436	p.Gly587Ser	missense variant	-	NC_000020.11:g.32799328G>A	gnomAD
rs367796697	p.Lys592Arg	missense variant	-	NC_000020.11:g.32800168A>G	ESP,TOPMed,gnomAD
rs770730685	p.Gly599Glu	missense variant	-	NC_000020.11:g.32800189G>A	ExAC,gnomAD
rs780900853	p.Lys600Asn	missense variant	-	NC_000020.11:g.32800193G>C	ExAC,TOPMed,gnomAD
rs752495145	p.Val602Ile	missense variant	-	NC_000020.11:g.32800197G>A	ExAC,TOPMed,gnomAD
RCV000305828	p.Val602Ile	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32800197G>A	ClinVar
rs752495145	p.Val602Ile	missense variant	-	NC_000020.11:g.32800197G>A	NCI-TCGA,NCI-TCGA Cosmic
rs121908943	p.Ala603Thr	missense variant	-	NC_000020.11:g.32800200G>A	ExAC,TOPMed,gnomAD
rs121908943	p.Ala603Thr	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32800200G>A	UniProt,dbSNP
VAR_011499	p.Ala603Thr	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32800200G>A	UniProt
RCV000007132	p.Ala603Thr	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32800200G>A	ClinVar
rs121908943	p.Ala603Thr	missense variant	-	NC_000020.11:g.32800200G>A	NCI-TCGA
NCI-TCGA novel	p.Ser604Phe	missense variant	-	NC_000020.11:g.32800204C>T	NCI-TCGA
rs1471648371	p.Val606Met	missense variant	-	NC_000020.11:g.32800209G>A	gnomAD
rs1165250227	p.Cys607Tyr	missense variant	-	NC_000020.11:g.32800213G>A	gnomAD
rs762537914	p.Ala612Thr	missense variant	-	NC_000020.11:g.32800227G>A	ExAC,TOPMed,gnomAD
rs762537914	p.Ala612Ser	missense variant	-	NC_000020.11:g.32800227G>T	ExAC,TOPMed,gnomAD
RCV000541656	p.Ala612Ser	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32800227G>T	ClinVar
rs762537914	p.Ala612Thr	missense variant	-	NC_000020.11:g.32800227G>A	NCI-TCGA,NCI-TCGA Cosmic
rs768347895	p.Val613Phe	missense variant	-	NC_000020.11:g.32800230G>T	ExAC,TOPMed,gnomAD
rs768347895	p.Val613Leu	missense variant	-	NC_000020.11:g.32800230G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val613Ile	missense variant	-	NC_000020.11:g.32800230G>A	NCI-TCGA
rs773822999	p.Gly614Glu	missense variant	-	NC_000020.11:g.32800234G>A	ExAC,TOPMed,gnomAD
COSM6092843	p.Gly614Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32800234G>T	NCI-TCGA Cosmic
rs138244100	p.Thr615Asn	missense variant	-	NC_000020.11:g.32800237C>A	ESP,ExAC,TOPMed,gnomAD
rs138244100	p.Thr615Ile	missense variant	-	NC_000020.11:g.32800237C>T	ESP,ExAC,TOPMed,gnomAD
rs754182982	p.Val616Met	missense variant	-	NC_000020.11:g.32800239G>A	ExAC,gnomAD
rs754182982	p.Val616Met	missense variant	-	NC_000020.11:g.32800239G>A	NCI-TCGA,NCI-TCGA Cosmic
rs759732480	p.His618Gln	missense variant	-	NC_000020.11:g.32800247C>G	ExAC,TOPMed,gnomAD
rs758232673	p.Glu619Asp	missense variant	-	NC_000020.11:g.32800250G>T	gnomAD
rs576798456	p.Glu619Lys	missense variant	-	NC_000020.11:g.32800248G>A	1000Genomes,ExAC,gnomAD
rs576798456	p.Glu619Lys	missense variant	-	NC_000020.11:g.32800248G>A	NCI-TCGA
rs932308287	p.Gly620Arg	missense variant	-	NC_000020.11:g.32800251G>A	gnomAD
rs371864380	p.Asn621Ser	missense variant	-	NC_000020.11:g.32800255A>G	ESP
rs758473556	p.Ile622Val	missense variant	-	NC_000020.11:g.32800257A>G	ExAC,TOPMed,gnomAD
rs143711646	p.Tyr624Ter	stop gained	-	NC_000020.11:g.32800265C>A	ESP,ExAC,TOPMed,gnomAD
rs751494757	p.Tyr624Phe	missense variant	-	NC_000020.11:g.32800264A>T	ExAC,gnomAD
rs1181758591	p.Tyr624His	missense variant	-	NC_000020.11:g.32800263T>C	TOPMed
rs201657518	p.Val625Met	missense variant	-	NC_000020.11:g.32800266G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201657518	p.Val625Leu	missense variant	-	NC_000020.11:g.32800266G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201657518	p.Val625Met	missense variant	-	NC_000020.11:g.32800266G>A	NCI-TCGA
rs1477651398	p.Asp627Asn	missense variant	-	NC_000020.11:g.32800272G>A	gnomAD
rs1477651398	p.Asp627Asn	missense variant	-	NC_000020.11:g.32800272G>A	NCI-TCGA Cosmic
rs748988879	p.Val628Met	missense variant	-	NC_000020.11:g.32800275G>A	ExAC,gnomAD
rs748988879	p.Val628Met	missense variant	-	NC_000020.11:g.32800275G>A	NCI-TCGA
NCI-TCGA novel	p.Asn630Thr	missense variant	-	NC_000020.11:g.32800282A>C	NCI-TCGA
rs770124472	p.Ile636Val	missense variant	-	NC_000020.11:g.32800835A>G	ExAC,gnomAD
rs1236410976	p.Gly640Asp	missense variant	-	NC_000020.11:g.32800848G>A	gnomAD
NCI-TCGA novel	p.Leu644Ser	missense variant	-	NC_000020.11:g.32800860T>C	NCI-TCGA
rs1214237513	p.Val645Met	missense variant	-	NC_000020.11:g.32800862G>A	gnomAD
rs774431732	p.Ile646Val	missense variant	-	NC_000020.11:g.32800865A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile646Thr	missense variant	-	NC_000020.11:g.32800866T>C	NCI-TCGA
NCI-TCGA novel	p.Gly648Arg	missense variant	-	NC_000020.11:g.32800871G>A	NCI-TCGA
rs767675287	p.Pro650Ser	missense variant	-	NC_000020.11:g.32800877C>T	ExAC,gnomAD
rs371697425	p.Pro650Leu	missense variant	-	NC_000020.11:g.32800878C>T	ESP,ExAC,gnomAD
rs1194842723	p.Cys651Arg	missense variant	-	NC_000020.11:g.32800880T>C	gnomAD
RCV000498054	p.Asp653Asn	missense variant	-	NC_000020.11:g.32800886G>A	ClinVar
rs1438362757	p.Asp653Asn	missense variant	-	NC_000020.11:g.32800886G>A	TOPMed,gnomAD
rs1438362757	p.Asp653Asn	missense variant	-	NC_000020.11:g.32800886G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn658Lys	missense variant	-	NC_000020.11:g.32800903T>G	NCI-TCGA
rs753687325	p.Ala660Asp	missense variant	-	NC_000020.11:g.32800908C>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg661Trp	missense variant	-	NC_000020.11:g.32800910A>T	NCI-TCGA
rs121908942	p.Gly663Ser	missense variant	-	NC_000020.11:g.32800916G>A	-
rs121908942	p.Gly663Ser	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32800916G>A	UniProt,dbSNP
VAR_011500	p.Gly663Ser	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32800916G>A	UniProt
rs201168560	p.Gly663Ala	missense variant	-	NC_000020.11:g.32800917G>C	1000Genomes,ExAC,gnomAD
RCV000007128	p.Gly663Ser	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32800916G>A	ClinVar
VAR_022580	p.Leu664Pro	Missense	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]	-	UniProt
rs747897729	p.Tyr665Cys	missense variant	-	NC_000020.11:g.32800923A>G	ExAC,gnomAD
rs756558325	p.Arg670Trp	missense variant	-	NC_000020.11:g.32801289C>T	ExAC,gnomAD
rs756558325	p.Arg670Trp	missense variant	-	NC_000020.11:g.32801289C>T	NCI-TCGA
rs936186612	p.Leu671Phe	missense variant	-	NC_000020.11:g.32801292C>T	TOPMed,gnomAD
rs749860839	p.Glu674Lys	missense variant	-	NC_000020.11:g.32801301G>A	ExAC,TOPMed,gnomAD
rs749860839	p.Glu674Lys	missense variant	-	NC_000020.11:g.32801301G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr681His	missense variant	-	NC_000020.11:g.32801322T>C	NCI-TCGA
rs1186097689	p.Ser682Ala	missense variant	-	NC_000020.11:g.32801325T>G	TOPMed
rs377397627	p.Arg683Cys	missense variant	-	NC_000020.11:g.32801328C>T	ESP,ExAC,gnomAD
rs1165118132	p.Arg683His	missense variant	-	NC_000020.11:g.32801329G>A	gnomAD
rs1165118132	p.Arg683His	missense variant	-	NC_000020.11:g.32801329G>A	NCI-TCGA Cosmic
rs1407677251	p.Lys685Glu	missense variant	-	NC_000020.11:g.32801334A>G	gnomAD
rs773365247	p.Glu686Asp	missense variant	-	NC_000020.11:g.32801339G>C	ExAC,gnomAD
rs559662934	p.Gly687Val	missense variant	-	NC_000020.11:g.32801341G>T	gnomAD
rs559662934	p.Gly687Asp	missense variant	-	NC_000020.11:g.32801341G>A	gnomAD
rs559662934	p.Gly687Asp	missense variant	-	NC_000020.11:g.32801341G>A	NCI-TCGA,NCI-TCGA Cosmic
rs913519656	p.Asp688Glu	missense variant	-	NC_000020.11:g.32801345T>A	gnomAD
rs889145646	p.Pro691Leu	missense variant	-	NC_000020.11:g.32801353C>T	TOPMed,gnomAD
COSM3991635	p.Trp694Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32801363G>C	NCI-TCGA Cosmic
COSM4097609	p.Phe696Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32801367T>C	NCI-TCGA Cosmic
RCV000762344	p.Val699Leu	missense variant	-	NC_000020.11:g.32801376G>C	ClinVar
VAR_011508	p.Val699Gly	Missense	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]	-	UniProt
rs771197329	p.Val700Leu	missense variant	-	NC_000020.11:g.32801379G>T	ExAC,gnomAD
rs1216492184	p.Val704Ala	missense variant	-	NC_000020.11:g.32801392T>C	TOPMed,gnomAD
rs776675936	p.Val704Ile	missense variant	-	NC_000020.11:g.32801391G>A	ExAC,gnomAD
rs1290986300	p.Gly705Asp	missense variant	-	NC_000020.11:g.32801395G>A	TOPMed
rs996239307	p.Asp706Asn	missense variant	-	NC_000020.11:g.32801397G>A	gnomAD
rs1282923538	p.Arg712Trp	missense variant	-	NC_000020.11:g.32801415C>T	gnomAD
NCI-TCGA novel	p.Arg712Gln	missense variant	-	NC_000020.11:g.32801416G>A	NCI-TCGA
rs1394914089	p.Glu715Gln	missense variant	-	NC_000020.11:g.32801424G>C	TOPMed
COSM6159409	p.Pro718Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32802391C>T	NCI-TCGA Cosmic
COSM70508	p.Val719Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32802394G>T	NCI-TCGA Cosmic
rs370027566	p.Met720Ile	missense variant	-	NC_000020.11:g.32802399G>T	ESP,ExAC,TOPMed,gnomAD
rs1319146760	p.Ile721Thr	missense variant	-	NC_000020.11:g.32802401T>C	gnomAD
rs1056119394	p.Asp722Asn	missense variant	-	NC_000020.11:g.32802403G>A	TOPMed,gnomAD
rs1256702701	p.Ala723Thr	missense variant	-	NC_000020.11:g.32802406G>A	TOPMed
rs1176559934	p.Ala723Asp	missense variant	-	NC_000020.11:g.32802407C>A	TOPMed
rs189425528	p.Ile724Val	missense variant	-	NC_000020.11:g.32802409A>G	1000Genomes,ExAC,gnomAD
rs121908941	p.Val726Gly	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32802416T>G	UniProt,dbSNP
VAR_011501	p.Val726Gly	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32802416T>G	UniProt
rs121908941	p.Val726Gly	missense variant	-	NC_000020.11:g.32802416T>G	ExAC,TOPMed,gnomAD
rs1240056301	p.His730Tyr	missense variant	-	NC_000020.11:g.32802427C>T	gnomAD
NCI-TCGA novel	p.Arg731Thr	missense variant	-	NC_000020.11:g.32802431G>C	NCI-TCGA
rs758755934	p.Ala732Thr	missense variant	-	NC_000020.11:g.32802433G>A	ExAC,TOPMed,gnomAD
rs758755934	p.Ala732Pro	missense variant	-	NC_000020.11:g.32802433G>C	ExAC,TOPMed,gnomAD
rs747182299	p.Arg733Gln	missense variant	-	NC_000020.11:g.32802437G>A	ExAC,TOPMed,gnomAD
RCV000498596	p.Arg733Gln	missense variant	-	NC_000020.11:g.32802437G>A	ClinVar
COSM126659	p.Arg733Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000020.11:g.32802436C>T	NCI-TCGA Cosmic
rs1284473301	p.Phe735Ser	missense variant	-	NC_000020.11:g.32802443T>C	gnomAD
COSM6159407	p.Gly737Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32802448G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly737Ser	missense variant	-	NC_000020.11:g.32802448G>A	NCI-TCGA
rs769823434	p.Gly741Arg	missense variant	-	NC_000020.11:g.32802460G>A	ExAC,TOPMed,gnomAD
rs775494858	p.Gly741Val	missense variant	-	NC_000020.11:g.32802461G>T	ExAC,gnomAD
COSM723103	p.Arg744Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32805338G>T	NCI-TCGA Cosmic
rs139777286	p.Val746Met	missense variant	-	NC_000020.11:g.32805342G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs121908944	p.Val746Gly	missense variant	-	NC_000020.11:g.32805343T>G	-
RCV000007134	p.Val746Gly	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32805343T>G	ClinVar
rs144522017	p.Ile747Leu	missense variant	-	NC_000020.11:g.32805345A>C	ESP,ExAC,gnomAD
COSM443642	p.Ile747Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32805346T>C	NCI-TCGA Cosmic
rs770423841	p.Ala748Thr	missense variant	-	NC_000020.11:g.32805348G>A	ExAC,gnomAD
rs1273316071	p.Ala748Val	missense variant	-	NC_000020.11:g.32805349C>T	TOPMed,gnomAD
rs776039012	p.Asn751Ser	missense variant	-	NC_000020.11:g.32805358A>G	ExAC,gnomAD
rs1469534868	p.Asn751Tyr	missense variant	-	NC_000020.11:g.32805357A>T	gnomAD
rs763489815	p.Asp752Val	missense variant	-	NC_000020.11:g.32805361A>T	ExAC,gnomAD
rs764716011	p.Glu755Gln	missense variant	-	NC_000020.11:g.32805369G>C	ExAC,TOPMed,gnomAD
rs764716011	p.Glu755Lys	missense variant	-	NC_000020.11:g.32805369G>A	ExAC,TOPMed,gnomAD
rs752174027	p.Leu756Met	missense variant	-	NC_000020.11:g.32805372C>A	ExAC,gnomAD
rs539018090	p.Asp758Asn	missense variant	-	NC_000020.11:g.32805378G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767814649	p.Glu761Gln	missense variant	-	NC_000020.11:g.32805387G>C	ExAC,TOPMed,gnomAD
rs759448571	p.Arg764Ser	missense variant	-	NC_000020.11:g.32805398G>T	ExAC,TOPMed,gnomAD
rs372465791	p.Arg764Trp	missense variant	-	NC_000020.11:g.32805396A>T	ESP,TOPMed
rs1470720257	p.Arg764Thr	missense variant	-	NC_000020.11:g.32805397G>C	gnomAD
RCV000544568	p.Arg764Ser	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32805398G>T	ClinVar
rs756320752	p.Ile765Val	missense variant	-	NC_000020.11:g.32805399A>G	ExAC,TOPMed,gnomAD
rs1191203668	p.Ala766Pro	missense variant	-	NC_000020.11:g.32805402G>C	gnomAD
rs1476034675	p.Lys767Arg	missense variant	-	NC_000020.11:g.32805406A>G	gnomAD
NCI-TCGA novel	p.Lys767Asn	missense variant	-	NC_000020.11:g.32805407G>T	NCI-TCGA
RCV000296781	p.Val771Ile	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32806218G>A	ClinVar
rs886056617	p.Val771Ile	missense variant	-	NC_000020.11:g.32806218G>A	-
rs1165707563	p.Ile774Val	missense variant	-	NC_000020.11:g.32806227A>G	TOPMed,gnomAD
COSM3911101	p.Ser778Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32806240C>T	NCI-TCGA Cosmic
rs750756624	p.Asn779His	missense variant	-	NC_000020.11:g.32806242A>C	ExAC,gnomAD
COSM3727315	p.Ser780Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32806246C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser780Trp	missense variant	-	NC_000020.11:g.32806246C>G	NCI-TCGA
rs1555842652	p.Lys782Asn	missense variant	-	NC_000020.11:g.32806253A>C	-
rs564957434	p.Lys782Arg	missense variant	-	NC_000020.11:g.32806252A>G	1000Genomes,ExAC,gnomAD
RCV000636688	p.Lys782Asn	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32806253A>C	ClinVar
NCI-TCGA novel	p.Lys782Ile	missense variant	-	NC_000020.11:g.32806252A>T	NCI-TCGA
rs868828837	p.Asn786Lys	missense variant	-	NC_000020.11:g.32806265C>A	gnomAD
rs1236388289	p.Asn786Ser	missense variant	-	NC_000020.11:g.32806264A>G	TOPMed,gnomAD
rs369258965	p.Gln787His	missense variant	-	NC_000020.11:g.32806268A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1325488291	p.Lys796Glu	missense variant	-	NC_000020.11:g.32806293A>G	TOPMed,gnomAD
rs758296438	p.Glu797Asp	missense variant	-	NC_000020.11:g.32806298A>C	ExAC,gnomAD
rs1251215877	p.Leu800Phe	missense variant	-	NC_000020.11:g.32806307G>T	gnomAD
rs1470267081	p.Thr803Ala	missense variant	-	NC_000020.11:g.32806314A>G	gnomAD
rs1330224703	p.Glu806Lys	missense variant	-	NC_000020.11:g.32806323G>A	gnomAD
COSM1025813	p.Glu806Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32806324A>G	NCI-TCGA Cosmic
VAR_011502	p.Glu806insGluSerThrPro	inframe_insertion	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) [MIM:242860]	-	UniProt
NCI-TCGA novel	p.Pro812Ser	missense variant	-	NC_000020.11:g.32807775C>T	NCI-TCGA
rs1219696128	p.His814Arg	missense variant	-	NC_000020.11:g.32807782A>G	TOPMed
rs1219696128	p.His814Arg	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807782A>G	UniProt,dbSNP
VAR_011510	p.His814Arg	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807782A>G	UniProt
rs1460397140	p.His814Asn	missense variant	-	NC_000020.11:g.32807781C>A	gnomAD
rs765258381	p.Thr816Ile	missense variant	-	NC_000020.11:g.32807788C>T	ExAC,gnomAD
rs121908939	p.Asp817Gly	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807791A>G	UniProt,dbSNP
VAR_011503	p.Asp817Gly	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807791A>G	UniProt
rs121908939	p.Asp817Gly	missense variant	-	NC_000020.11:g.32807791A>G	-
RCV000007125	p.Asp817Gly	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32807791A>G	ClinVar
rs121908940	p.Val818Leu	missense variant	-	NC_000020.11:g.32807793G>T	ExAC,TOPMed,gnomAD
rs121908940	p.Val818Met	missense variant	-	NC_000020.11:g.32807793G>A	ExAC,TOPMed,gnomAD
rs121908940	p.Val818Met	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807793G>A	UniProt,dbSNP
VAR_011504	p.Val818Met	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807793G>A	UniProt
RCV000845251	p.Val818Met	missense variant	-	NC_000020.11:g.32807793G>A	ClinVar
rs121908940	p.Val818Met	missense variant	-	NC_000020.11:g.32807793G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1348564459	p.Ser819Phe	missense variant	-	NC_000020.11:g.32807797C>T	TOPMed
rs1348564459	p.Ser819Cys	missense variant	-	NC_000020.11:g.32807797C>G	TOPMed
rs536641010	p.Asn820Ser	missense variant	-	NC_000020.11:g.32807800A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1306339773	p.Gly824Ser	missense variant	-	NC_000020.11:g.32807811G>A	gnomAD
rs1366734818	p.Ala825Thr	missense variant	-	NC_000020.11:g.32807814G>A	TOPMed
rs756972254	p.Arg826Leu	missense variant	-	NC_000020.11:g.32807818G>T	ExAC,TOPMed,gnomAD
rs756972254	p.Arg826His	missense variant	-	NC_000020.11:g.32807818G>A	ExAC,TOPMed,gnomAD
rs201579632	p.Arg826Cys	missense variant	-	NC_000020.11:g.32807817C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs756972254	p.Arg826His	missense variant	-	NC_000020.11:g.32807818G>A	NCI-TCGA
rs781183120	p.Ser833Phe	missense variant	-	NC_000020.11:g.32807839C>T	ExAC,gnomAD
rs955772228	p.Ser835Arg	missense variant	-	NC_000020.11:g.32807846C>A	TOPMed,gnomAD
rs121908946	p.Arg840Gln	missense variant	-	NC_000020.11:g.32807860G>A	ExAC,TOPMed,gnomAD
rs121908946	p.Arg840Gln	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807860G>A	UniProt,dbSNP
VAR_022581	p.Arg840Gln	missense variant	Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1)	NC_000020.11:g.32807860G>A	UniProt
rs1182001726	p.Arg840Ter	stop gained	-	NC_000020.11:g.32807859C>T	gnomAD
rs1182001726	p.Arg840Ter	stop gained	-	NC_000020.11:g.32807859C>T	NCI-TCGA Cosmic
RCV000007136	p.Arg840Gln	missense variant	Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency (ICF1)	NC_000020.11:g.32807860G>A	ClinVar
rs121908946	p.Arg840Gln	missense variant	-	NC_000020.11:g.32807860G>A	NCI-TCGA
rs1426676696	p.Leu842HisPhePhePheAspLeuProThrValPheTerValTerLysTerLeuUnk	stop gained	-	NC_000020.11:g.32807865_32807866insATTTCTTCTTTGACTTACCAACAGTTTTCTGAGTATAAAAGTAACT	gnomAD
rs1189341990	p.Leu842Phe	missense variant	-	NC_000020.11:g.32807865C>T	gnomAD
rs147402935	p.Phe843Leu	missense variant	-	NC_000020.11:g.32807870C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147402935	p.Phe843Leu	missense variant	-	NC_000020.11:g.32807870C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1267164985	p.Ala844Thr	missense variant	-	NC_000020.11:g.32807871G>A	TOPMed
rs1267164985	p.Ala844Thr	missense variant	-	NC_000020.11:g.32807871G>A	NCI-TCGA Cosmic
COSM3545321	p.Pro845Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000020.11:g.32807874C>T	NCI-TCGA Cosmic
rs773561827	p.Ter854Gln	stop lost	-	NC_000020.11:g.32807901T>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001418	Adenocarcinoma	group	LHGDN
C0001430	Adenoma	group	BEFREE;LHGDN
C0002871	Anemia	disease	HPO
C0003257	Antibody Deficiency Syndrome	disease	CTD_human
C0003469	Anxiety Disorders	group	RGD
C0004114	Astrocytoma	disease	BEFREE
C0004936	Mental disorders	group	BEFREE
C0006118	Brain Neoplasms	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE;CTD_human
C0006267	Bronchiectasis	disease	HPO
C0006413	Burkitt Lymphoma	disease	BEFREE
C0007097	Carcinoma	group	CTD_human
C0007102	Malignant tumor of colon	disease	BEFREE
C0007103	Malignant neoplasm of endometrium	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	LHGDN
C0007138	Carcinoma, Transitional Cell	disease	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0008677	Bronchitis, Chronic	disease	HPO
C0009375	Colonic Neoplasms	group	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE;LHGDN
C0009451	Communicating Hydrocephalus	disease	HPO
C0010674	Cystic Fibrosis	disease	BEFREE
C0011991	Diarrhea	phenotype	HPO
C0013080	Down Syndrome	disease	BEFREE
C0014175	Endometriosis	disease	BEFREE;LHGDN
C0014859	Esophageal Neoplasms	group	BEFREE
C0017638	Glioma	disease	BEFREE
C0018798	Congenital Heart Defects	group	RGD
C0018818	Ventricular Septal Defects	group	BEFREE
C0019187	Hepatitis, Alcoholic	disease	BEFREE
C0019189	Hepatitis, Chronic	disease	BEFREE
C0019569	Hirschsprung Disease	disease	BEFREE
C0020175	Hunger	phenotype	BEFREE
C0020534	Orbital separation excessive	phenotype	HPO
C0021051	Immunologic Deficiency Syndromes	group	BEFREE;CTD_human;HPO
C0021294	Infant, Premature	phenotype	BEFREE
C0021364	Male infertility	disease	BEFREE
C0021390	Inflammatory Bowel Diseases	group	GWASCAT;GWASDB
C0021400	Influenza	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	LHGDN
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023890	Liver Cirrhosis	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024121	Lung Neoplasms	group	BEFREE;LHGDN
C0024131	Lupus Vulgaris	disease	BEFREE
C0024138	Lupus Erythematosus, Discoid	disease	BEFREE
C0024141	Lupus Erythematosus, Systemic	disease	BEFREE
C0024232	Lymphatic Metastasis	disease	BEFREE;LHGDN
C0024299	Lymphoma	group	BEFREE
C0024301	Lymphoma, Follicular	disease	BEFREE
C0024312	Lymphopenia	disease	HPO
C0024421	Macroglossia	disease	HPO
C0024623	Malignant neoplasm of stomach	disease	BEFREE;CTD_human
C0025202	melanoma	disease	BEFREE
C0025362	Mental Retardation	disease	BEFREE;HPO
C0025990	Micrognathism	disease	HPO
C0026764	Multiple Myeloma	disease	BEFREE
C0026850	Muscular Dystrophy	disease	BEFREE
C0026896	Myasthenia Gravis	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030469	Paranasal Sinus Diseases	group	HPO
C0032285	Pneumonia	disease	HPO
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0032584	polyps	phenotype	BEFREE
C0032927	Precancerous Conditions	group	BEFREE
C0033578	Prostatic Neoplasms	group	CTD_human;LHGDN
C0033581	prostatitis	disease	RGD
C0035372	Rett Syndrome	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0036631	Seminoma	disease	BEFREE
C0037199	Sinusitis	disease	HPO
C0038356	Stomach Neoplasms	group	CTD_human;LHGDN
C0039483	Giant Cell Arteritis	disease	BEFREE
C0040100	Thymoma	disease	BEFREE
C0042769	Virus Diseases	group	BEFREE
C0079731	B-Cell Lymphomas	group	BEFREE
C0086438	Hypogammaglobulinemia	disease	HPO
C0149925	Small cell carcinoma of lung	disease	BEFREE
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0153381	Malignant neoplasm of mouth	disease	BEFREE
C0154455	Other anxiety states	disease	RGD
C0162119	Hemoglobin low	phenotype	HPO
C0162429	Malnutrition	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0200635	Lymphocyte Count measurement	phenotype	GWASCAT
C0205696	Anaplastic carcinoma	disease	CTD_human
C0205697	Carcinoma, Spindle-Cell	disease	CTD_human
C0205698	Undifferentiated carcinoma	phenotype	CTD_human
C0205699	Carcinomatosis	phenotype	CTD_human
C0206659	Embryonal Carcinoma	disease	BEFREE
C0206664	Teratocarcinoma	disease	BEFREE
C0206677	Adenomatous Polyps	disease	BEFREE
C0206687	Carcinoma, Endometrioid	disease	BEFREE
C0206698	Cholangiocarcinoma	disease	LHGDN
C0220641	Lip and Oral Cavity Carcinoma	disease	BEFREE
C0231246	Failure to gain weight	phenotype	HPO
C0238288	Muscular Dystrophy, Facioscapulohumeral	disease	BEFREE
C0239234	Low set ears	phenotype	HPO
C0241442	Protrusion of tongue	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0262584	Carcinoma, Small Cell	disease	BEFREE
C0266617	Congenital anomaly of face	group	BEFREE
C0269102	Endometrioma	disease	BEFREE
C0278882	Stage III Cutaneous Melanoma AJCC v6	disease	BEFREE
C0279607	Adult Hepatocellular Carcinoma	disease	RGD
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0280141	Acute Undifferentiated Leukemia	disease	BEFREE
C0302592	Cervix carcinoma	disease	BEFREE
C0343641	Human papilloma virus infection	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE;CTD_human
C0376628	Chromosome Breakage	phenotype	HPO
C0376634	Craniofacial Abnormalities	group	CTD_human
C0398650	Immune thrombocytopenic purpura	disease	BEFREE;LHGDN
C0398788	Immunodeficiency syndrome, variable	disease	BEFREE;CLINVAR;CTD_human;MGD;UNIPROT
C0409974	Lupus Erythematosus	disease	BEFREE
C0410192	Muscular Dystrophy, Scapulohumeral	disease	BEFREE
C0423903	Low intelligence	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	BEFREE
C0426414	Small nose	phenotype	HPO
C0427515	Neutrophil abnormality	phenotype	HPO
C0432222	Spondyloenchondrodysplasia	disease	BEFREE
C0476089	Endometrial Carcinoma	disease	BEFREE
C0494266	Other specified immunodeficiencies	disease	MGD
C0494463	Alzheimer Disease, Late Onset	disease	BEFREE
C0525045	Mood Disorders	group	BEFREE;PSYGENET
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0557874	Global developmental delay	disease	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0598766	Leukemogenesis	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;CTD_human
C0678230	Congenital Epicanthus	disease	HPO
C0678236	Rare Diseases	group	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C0919267	ovarian neoplasm	disease	LHGDN
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1269683	Major Depressive Disorder	disease	BEFREE
C1302401	Adenoma of large intestine	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1333977	Hepatitis B Virus-Related Hepatocellular Carcinoma	disease	BEFREE
C1333990	Hereditary Nonpolyposis Colorectal Cancer	disease	BEFREE
C1334177	Infiltrating Cervical Carcinoma	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1336076	Sporadic Breast Carcinoma	disease	BEFREE
C1378511	Undifferentiated leukemia	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;CTD_human;LHGDN
C1510586	Autism Spectrum Disorders	disease	CTD_human
C1512409	Hepatocarcinogenesis	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1608408	Malignant transformation	phenotype	BEFREE
C1623038	Cirrhosis	disease	BEFREE
C1656427	Early onset schizophrenia	disease	BEFREE;PSYGENET
C1708349	Hereditary Diffuse Gastric Cancer	disease	CTD_human
C1834671	FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1B	disease	UNIPROT
C1836542	Depressed nasal bridge	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1853241	Flat face	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1855204	Cellular immunodeficiency	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857276	Trichohepatoenteric Syndrome	disease	BEFREE
C1858085	Malar flattening	phenotype	HPO
C1861305	TARSAL-CARPAL COALITION SYNDROME	disease	BEFREE
C1864897	Cognitive delay	phenotype	HPO
C1883486	Uterine Corpus Cancer	disease	BEFREE
C1960272	Latent autoimmune diabetes mellitus in adult	disease	BEFREE
C2145472	Urothelial Carcinoma	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE;LHGDN
C2315100	Pediatric failure to thrive	disease	HPO
C2717836	Steroid Sulfatase Deficiency Disease	disease	BEFREE
C2931322	T-Lymphocytopenia	disease	HPO
C3241937	Nonalcoholic Steatohepatitis	disease	BEFREE
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3714514	Infection	group	LHGDN
C3714745	Malabsorption	phenotype	HPO
C3714756	Intellectual Disability	group	BEFREE;GENOMICS_ENGLAND;HPO
C3806482	Recurrent respiratory infections	phenotype	HPO
C3839868	Cytogenetically normal acute myeloid leukemia	disease	BEFREE
C3887461	Head and Neck Carcinoma	disease	BEFREE
C3887678	Central Nervous System Embryonal Tumor, Not Otherwise Specified	disease	BEFREE
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4048270	Decreased antibody level in blood	phenotype	HPO
C4048328	cervical cancer	disease	BEFREE
C4083076	Increased head circumference	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	IEA
GO:0003682	chromatin binding	IEA
GO:0003714	transcription corepressor activity	IDA
GO:0003714	transcription corepressor activity	IMP
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	TAS
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	NAS
GO:0003886	DNA (cytosine-5-)-methyltransferase activity	IDA
GO:0005515	protein binding	IPI
GO:0009008	DNA-methyltransferase activity	NAS
GO:0009008	DNA-methyltransferase activity	TAS
GO:0042826	histone deacetylase binding	IEA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA
GO:0001666	response to hypoxia	IEA
GO:0006306	DNA methylation	TAS
GO:0006306	DNA methylation	NAS
GO:0009636	response to toxic substance	IEA
GO:0010212	response to ionizing radiation	IEA
GO:0010628	positive regulation of gene expression	IMP
GO:0014823	response to activity	IEA
GO:0031000	response to caffeine	IEA
GO:0032355	response to estradiol	IEA
GO:0033189	response to vitamin A	IEA
GO:0042220	response to cocaine	IEA
GO:0045666	positive regulation of neuron differentiation	IEA
GO:0045814	negative regulation of gene expression, epigenetic	TAS
GO:0051571	positive regulation of histone H3-K4 methylation	IMP
GO:0051573	negative regulation of histone H3-K9 methylation	IMP
GO:0071455	cellular response to hyperoxia	IEA
GO:0071549	cellular response to dexamethasone stimulus	IEA
GO:0090116	C-5 methylation of cytosine	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IDA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-212165	Epigenetic regulation of gene expression	IEA
R-HSA-212165	Epigenetic regulation of gene expression	TAS
R-HSA-212300	PRC2 methylates histones and DNA	TAS
R-HSA-2990846	SUMOylation	TAS
R-HSA-3108232	SUMO E3 ligases SUMOylate target proteins	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-427413	NoRC negatively regulates rRNA expression	IEA
R-HSA-4655427	SUMOylation of DNA methylation proteins	TAS
R-HSA-5250941	Negative epigenetic regulation of rRNA expression	IEA
R-HSA-5334118	DNA methylation	IEA
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-74160	Gene expression (Transcription)	IEA
R-HSA-74160	Gene expression (Transcription)	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in decreased expression of DNMT3B mRNA	26377693
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of DNMT3B mRNA	30552462
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in decreased expression of DNMT3B mRNA	28903501
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of DNMT3B mRNA	25510870
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter promotes the reaction [[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein]]	30481581
C093973	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter results in increased expression of DNMT3B protein]	30481581
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of DNMT3B mRNA	19114083
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of DNMT3B mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of DNMT3B mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of DNMT3B mRNA	25510870
C085911	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter results in increased expression of DNMT3B protein]	26942697
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of DNMT3B mRNA	25510870
C016392	3,3'-diindolylmethane	3,3'-diindolylmethane results in decreased expression of DNMT3B mRNA	24466240
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of DNMT3B mRNA	16788091
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in increased expression of DNMT3B mRNA	25912373
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 increased expression of DNMT3B 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 DNMT3B mRNA	27188386
C041594	4-nonylphenol	[4-tert-octylphenol co-treated with 4-nonylphenol] results in decreased expression of DNMT3B mRNA	23626723
C041594	4-nonylphenol	[4-tert-octylphenol co-treated with 4-nonylphenol] results in decreased expression of DNMT3B protein	23626723
C041594	4-nonylphenol	Wortmannin inhibits the reaction [[4-tert-octylphenol co-treated with 4-nonylphenol] results in decreased expression of DNMT3B protein]	23626723
C105260	4-tert-octylphenol	[4-tert-octylphenol co-treated with 4-nonylphenol] results in decreased expression of DNMT3B mRNA	23626723
C105260	4-tert-octylphenol	[4-tert-octylphenol co-treated with 4-nonylphenol] results in decreased expression of DNMT3B protein	23626723
C105260	4-tert-octylphenol	Wortmannin inhibits the reaction [[4-tert-octylphenol co-treated with 4-nonylphenol] results in decreased expression of DNMT3B protein]	23626723
C496492	abrine	abrine results in decreased expression of DNMT3B mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of DNMT3B mRNA	29665328
D000082	Acetaminophen	Acetaminophen results in increased expression of DNMT3B mRNA	22230336
D019342	Acetic Acid	Acetic Acid results in decreased expression of DNMT3B protein	21296659
D000111	Acetylcysteine	Acetylcysteine inhibits the reaction [Particulate Matter results in increased expression of DNMT3B protein]	26942697
D020106	Acrylamide	Acrylamide results in decreased expression of DNMT3B mRNA	30807115
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of DNMT3B exon	30157460
D000661	Amphetamine	Amphetamine results in decreased expression of DNMT3B mRNA	30779732
D001151	Arsenic	DNMT3B gene polymorphism affects the metabolism of Arsenic	21247820
D001151	Arsenic	DNMT3B gene SNP affects the reaction [Arsenic affects the methylation of CDH1 promoter]	30220071
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased activity of DNMT3B protein	20596618
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of DNMT3B	20416177
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of DNMT3B mRNA	12667347; 12679007; 17490527; 20596618; 21176356; 29159499;
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of DNMT3B mRNA	25534098
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of DNMT3B protein	19679824
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of DNMT3B mRNA	29223816
D001280	Atrazine	Atrazine results in increased expression of DNMT3B mRNA	25929836
D001379	Azathioprine	Azathioprine results in decreased expression of DNMT3B mRNA	22623647
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of DNMT3B gene	25435355
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of DNMT3B mRNA	19770486; 21715664;
D053119	Benzophenanthridines	Benzophenanthridines analog results in decreased expression of DNMT3B mRNA	23117580
C072553	benzyloxycarbonylleucyl-leucyl-leucine aldehyde	benzyloxycarbonylleucyl-leucyl-leucine aldehyde inhibits the reaction [Ethanol results in increased degradation of DNMT3B protein]	23395981
D001599	Berberine	Berberine results in decreased expression of DNMT3B mRNA	27311644
D001622	Betaine	Betaine results in decreased expression of DNMT3B mRNA	22945834
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of DNMT3B mRNA	25912373
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of DNMT3B mRNA	29741722
C006780	bisphenol A	bisphenol A results in decreased expression of DNMT3B mRNA	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of DNMT3B mRNA	29113915
C006780	bisphenol A	bisphenol A results in decreased methylation of DNMT3B promoter	27271280
C006780	bisphenol A	bisphenol A results in increased expression of DNMT3B mRNA	27685785
C006780	bisphenol A	bisphenol A affects the methylation of DNMT3B promoter	27334623
C006780	bisphenol A	bisphenol A results in decreased expression of DNMT3B mRNA	22131059; 27502578; 30951980; 31201698;
C006780	bisphenol A	bisphenol A results in decreased expression of DNMT3B protein	23418087; 27502578;
C006780	bisphenol A	bisphenol A results in increased expression of DNMT3B mRNA	23535407; 30892605;
C006780	bisphenol A	Fulvestrant inhibits the reaction [bisphenol A results in decreased expression of DNMT3B mRNA]	22131059
C006780	bisphenol A	Fulvestrant inhibits the reaction [bisphenol A results in increased expression of DNMT3B mRNA]	30892605
C006780	bisphenol A	bisphenol A results in decreased expression of DNMT3B mRNA	25181051; 25748669;
C006780	bisphenol A	bisphenol A results in increased expression of DNMT3B mRNA	21827818; 22109888; 23748860; 26898831;
C006780	bisphenol A	bisphenol A results in increased expression of DNMT3B protein	21827818
C006780	bisphenol A	bisphenol A results in increased methylation of DNMT3B gene	28505145
C006780	bisphenol A	[Testosterone co-treated with Estradiol] affects the reaction [bisphenol A results in increased expression of DNMT3B mRNA]	22109888
C006780	bisphenol A	bisphenol A results in decreased expression of DNMT3B mRNA	28819136
C099813	bromochloroacetic acid	bromochloroacetic acid results in decreased expression of DNMT3B protein	21296659
C038091	butylparaben	butylparaben results in increased expression of DNMT3B mRNA	26888303
D002104	Cadmium	Cadmium results in decreased expression of DNMT3B mRNA	21278052
D002104	Cadmium	Cadmium affects the expression of DNMT3B mRNA	22382075
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of DNMT3B mRNA	17938735; 25448810;
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of DNMT3B protein	27984135
D002110	Caffeine	Caffeine results in increased expression of DNMT3B mRNA	25868845; 30423288;
D002117	Calcitriol	Calcitriol results in decreased expression of DNMT3B mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in decreased expression of DNMT3B mRNA	21592394
D002251	Carbon Tetrachloride	[Carbon Tetrachloride co-treated with Ethanol] results in decreased expression of DNMT3B mRNA	30517762
D002392	Catechin	[Catechin co-treated with Grape Seed Proanthocyanidins] results in increased expression of DNMT3B mRNA	24763279
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of DNMT3B protein	20548288
C012843	cinnamic aldehyde	cinnamic aldehyde results in decreased expression of DNMT3B mRNA	17178418
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of DNMT3B mRNA	27392435
D002945	Cisplatin	DNMT3B protein results in decreased susceptibility to Cisplatin	18314485
D002945	Cisplatin	Cisplatin results in increased phosphorylation of DNMT3B protein	22006019
D003042	Cocaine	Cocaine results in decreased expression of DNMT3B mRNA	22438930
D003042	Cocaine	Cocaine results in decreased expression of DNMT3B protein	22438930
D003042	Cocaine	Methionine inhibits the reaction [Cocaine results in decreased expression of DNMT3B mRNA]	22438930
D003042	Cocaine	Methionine inhibits the reaction [Cocaine results in decreased expression of DNMT3B protein]	22438930
D019327	Copper Sulfate	Copper Sulfate results in increased expression of DNMT3B mRNA	19549813
D003474	Curcumin	Curcumin results in decreased expression of DNMT3B mRNA	23593078
D003474	Curcumin	Curcumin analog results in decreased expression of DNMT3B protein	26991801; 29228771;
C057862	cyanoginosin LR	cyanoginosin LR results in increased expression of DNMT3B mRNA	29518473
D016572	Cyclosporine	Cyclosporine results in decreased expression of DNMT3B mRNA	20106945; 27989131;
D016572	Cyclosporine	Cyclosporine results in increased expression of DNMT3B mRNA	25562108
D003634	DDT	DDT results in decreased expression of DNMT3B mRNA	19797855
D000077209	Decitabine	Decitabine affects the expression of DNMT3B mRNA	18544619
D000077209	Decitabine	[Decitabine affects the expression of DNMT3B protein] which affects the expression of CDKN1A mRNA	18544619
D000077209	Decitabine	[Decitabine affects the expression of DNMT3B protein] which affects the expression of CDKN1B mRNA	18544619
D000077209	Decitabine	[Decitabine affects the expression of DNMT3B protein] which affects the expression of RB1 mRNA	18544619
D000077209	Decitabine	Decitabine inhibits the reaction [DNMT3B protein binds to GSTM2 promoter]	21246532
D000077209	Decitabine	Decitabine results in decreased expression of DNMT3B mRNA	18676679; 19662370; 21515334;
D000077209	Decitabine	Decitabine results in decreased expression of DNMT3B protein	17991895; 19221000; 19732952; 21771726; 22749965;
D000077209	Decitabine	DNMT3B gene mutant form results in decreased susceptibility to Decitabine	23300844
D000077209	Decitabine	DNMT3B protein affects the reaction [Decitabine results in increased expression of CDH1 protein]	16887905
D000077209	Decitabine	DNMT3B protein affects the reaction [Decitabine results in increased expression of JUP protein]	16887905
D000077209	Decitabine	DNMT3B protein affects the susceptibility to Decitabine	17991895
D000077209	Decitabine	Decitabine inhibits the reaction [Particulate Matter promotes the reaction [[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein]]	30481581
D000077209	Decitabine	Decitabine inhibits the reaction [Particulate Matter results in increased expression of DNMT3B protein]	30481581
D000077209	Decitabine	Decitabine results in decreased expression of DNMT3B protein	19679824
D000077209	Decitabine	Decitabine affects the expression of DNMT3B mRNA	24447120
D000077209	Decitabine	Decitabine inhibits the reaction [Dust results in increased expression of DNMT3B mRNA]	30815999
D003676	Deferoxamine	Deferoxamine results in decreased expression of DNMT3B mRNA	23483119
D003676	Deferoxamine	Deferoxamine results in increased expression of DNMT3B mRNA	23483119
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of DNMT3B mRNA	21266533
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of DNMT3B protein	26745512
C000944	dicrotophos	dicrotophos results in increased expression of DNMT3B mRNA	28302478
D004041	Dietary Fats	Dietary Fats results in decreased expression of DNMT3B mRNA	30120929
D004041	Dietary Fats	[Streptozocin co-treated with Dietary Fats] results in increased expression of DNMT3B mRNA	29127188
D004041	Dietary Fats	[Streptozocin co-treated with Dietary Fats] results in increased expression of DNMT3B protein	29127188
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of DNMT3B mRNA	31163220
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of DNMT3B protein	31163220
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of DNMT3B mRNA	31211961
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of DNMT3B mRNA	20335514
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of DNMT3B mRNA	25280772
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of DNMT3B protein	25280772
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of DNMT3B mRNA	16714842
D004137	Dinitrochlorobenzene	Dinitrochlorobenzene results in decreased expression of DNMT3B mRNA	25236440
C029402	diphenylcyclopropenone	diphenylcyclopropenone results in decreased expression of DNMT3B mRNA	25236440
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 increased expression of DNMT3B 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 DNMT3B mRNA	27188386
D004391	Dust	Dust results in decreased expression of DNMT3B mRNA	26342214
D004391	Dust	Decitabine inhibits the reaction [Dust results in increased expression of DNMT3B mRNA]	30815999
D004391	Dust	Dust results in increased expression of DNMT3B mRNA	30815999
D004726	Endosulfan	Endosulfan results in increased expression of DNMT3B mRNA	29054638
D004726	Endosulfan	Endosulfan results in increased expression of DNMT3B protein	29054638
D004726	Endosulfan	Endosulfan results in decreased expression of DNMT3B mRNA	29391264
C118739	entinostat	entinostat results in increased expression of DNMT3B 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 increased expression of DNMT3B mRNA	27188386
C118739	entinostat	entinostat results in decreased expression of DNMT3B protein	19679824
C045651	epigallocatechin gallate	epigallocatechin gallate results in increased expression of DNMT3B mRNA	25839702
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of DNMT3B mRNA	22079256
D004958	Estradiol	[mono-(2-ethylhexyl)phthalate co-treated with Estradiol] results in increased expression of DNMT3B mRNA	27989758
D004958	Estradiol	Estradiol promotes the reaction [DNMT3B protein binds to COMT promoter]	30684530
D004958	Estradiol	Estradiol results in increased expression of DNMT3B mRNA	30684530
D004958	Estradiol	sulforafan inhibits the reaction [Estradiol promotes the reaction [DNMT3B protein binds to COMT promoter]]	30684530
D004958	Estradiol	sulforafan inhibits the reaction [Estradiol results in increased expression of DNMT3B mRNA]	30684530
D004958	Estradiol	[Testosterone co-treated with Estradiol] affects the reaction [bisphenol A results in increased expression of DNMT3B mRNA]	22109888
D004958	Estradiol	[Testosterone co-treated with Estradiol] affects the reaction [estradiol-17 beta-benzoate results in increased expression of DNMT3B mRNA]	22109888
C010452	estradiol-17 beta-benzoate	estradiol-17 beta-benzoate results in increased expression of DNMT3B mRNA	22109888
C010452	estradiol-17 beta-benzoate	[Testosterone co-treated with Estradiol] affects the reaction [estradiol-17 beta-benzoate results in increased expression of DNMT3B mRNA]	22109888
D000431	Ethanol	benzyloxycarbonylleucyl-leucyl-leucine aldehyde inhibits the reaction [Ethanol results in increased degradation of DNMT3B protein]	23395981
D000431	Ethanol	[Carbon Tetrachloride co-treated with Ethanol] results in decreased expression of DNMT3B mRNA	30517762
D000431	Ethanol	Ethanol results in decreased expression of DNMT3B protein	23395981
D000431	Ethanol	Ethanol results in increased degradation of DNMT3B protein	23395981
D000431	Ethanol	Ethanol results in increased expression of DNMT3B mRNA	23395981
D005047	Etoposide	DNMT3B protein results in decreased susceptibility to Etoposide	18314485
D005472	Fluorouracil	Fluorouracil results in decreased expression of DNMT3B protein	21296659
D005492	Folic Acid	Folic Acid affects the expression of DNMT3B mRNA	17311948
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of DNMT3B protein	20548288
D005557	Formaldehyde	Formaldehyde results in decreased expression of DNMT3B mRNA	21745553
D005557	Formaldehyde	Formaldehyde results in decreased expression of DNMT3B protein	21745553
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [bisphenol A results in decreased expression of DNMT3B mRNA]	22131059
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [bisphenol A results in increased expression of DNMT3B mRNA]	30892605
C056933	fumonisin B1	fumonisin B1 results in decreased activity of DNMT3B protein	24280379
C056507	gemcitabine	[gemcitabine results in decreased susceptibility to gemcitabine] which results in increased expression of DNMT3B protein	25189999
D019833	Genistein	Genistein promotes the reaction [DNMT3B protein binds to COMT promoter]	30684530
D019833	Genistein	Genistein results in decreased expression of DNMT3B mRNA	23593078
D019833	Genistein	Genistein results in decreased expression of DNMT3B protein	19221000
C511402	Grape Seed Proanthocyanidins	[Catechin co-treated with Grape Seed Proanthocyanidins] results in increased expression of DNMT3B mRNA	24763279
C511402	Grape Seed Proanthocyanidins	Grape Seed Proanthocyanidins results in decreased expression of DNMT3B mRNA	22749965
C511402	Grape Seed Proanthocyanidins	Grape Seed Proanthocyanidins results in decreased expression of DNMT3B protein	22749965
C000593030	GSK-J4	GSK-J4 results in decreased expression of DNMT3B mRNA	29301935
D006861	Hydrogen Peroxide	DNMT3B protein results in decreased susceptibility to Hydrogen Peroxide	18314485
C031927	hydroquinone	hydroquinone results in decreased expression of DNMT3B mRNA	22245671
C016517	indole-3-carbinol	indole-3-carbinol affects the expression of DNMT3B mRNA	21396975
D007545	Isoproterenol	Isoproterenol results in increased expression of DNMT3B mRNA	21335049
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of DNMT3B mRNA	27392435
C544151	jinfukang	jinfukang results in increased expression of DNMT3B mRNA	27392435
D007649	Ketamine	Ketamine results in decreased expression of DNMT3B mRNA	20080153
D007854	Lead	Lead affects the expression of DNMT3B mRNA	28903495
D000077339	Leflunomide	Leflunomide results in decreased expression of DNMT3B mRNA	28988120
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression of DNMT3B protein	20548288
D008715	Methionine	Methionine inhibits the reaction [Cocaine results in decreased expression of DNMT3B mRNA]	22438930
D008715	Methionine	Methionine inhibits the reaction [Cocaine results in decreased expression of DNMT3B protein]	22438930
D008731	Methoxychlor	Methoxychlor results in increased expression of DNMT3B mRNA	19589859
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of DNMT3B mRNA	19636072
D008767	Methylmercury Compounds	Methylmercury Compounds results in decreased expression of DNMT3B mRNA	21664453
D008767	Methylmercury Compounds	Methylmercury Compounds results in decreased expression of DNMT3B mRNA	22918959
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of DNMT3B mRNA	23649840
C000622638	MLN7243	MLN7243 results in increased sumoylation of DNMT3B protein	31285264
C016599	mono-(2-ethylhexyl)phthalate	[mono-(2-ethylhexyl)phthalate co-treated with Estradiol] results in increased expression of DNMT3B mRNA	27989758
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in increased expression of DNMT3B mRNA	27989758
C028577	monobutyl phthalate	monobutyl phthalate results in decreased expression of DNMT3B protein	26745512
C091888	monoisoamyl-2,3-dimercaptosuccinate	monoisoamyl-2,3-dimercaptosuccinate inhibits the reaction [sodium arsenite results in decreased expression of DNMT3B mRNA]	19615344
D009151	Mustard Gas	Mustard Gas results in decreased expression of DNMT3B mRNA	26392148
D009151	Mustard Gas	Mustard Gas results in increased expression of DNMT3B mRNA	15674844
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of DNMT3B mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of DNMT3B mRNA	25620056
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of DNMT3B mRNA	26251327
D010047	Ovalbumin	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter promotes the reaction [[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein]]	30481581
D010047	Ovalbumin	Decitabine inhibits the reaction [Particulate Matter promotes the reaction [[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein]]	30481581
D010047	Ovalbumin	[ovalbumin-alum co-treated with Ovalbumin] promotes the reaction [Particulate Matter results in increased expression of DNMT3B protein]	30481581
D010047	Ovalbumin	[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein	30481581
D010047	Ovalbumin	Particulate Matter promotes the reaction [[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein]	30481581
C446402	ovalbumin-alum	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter promotes the reaction [[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein]]	30481581
C446402	ovalbumin-alum	Decitabine inhibits the reaction [Particulate Matter promotes the reaction [[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein]]	30481581
C446402	ovalbumin-alum	[ovalbumin-alum co-treated with Ovalbumin] promotes the reaction [Particulate Matter results in increased expression of DNMT3B protein]	30481581
C446402	ovalbumin-alum	[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein	30481581
C446402	ovalbumin-alum	Particulate Matter promotes the reaction [[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein]	30481581
D010126	Ozone	DNMT3B gene polymorphism affects the susceptibility to Ozone	27219456
D052638	Particulate Matter	2-(4-morpholinyl)-8-phenyl-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter results in increased expression of DNMT3B protein]	26942697
D052638	Particulate Matter	Acetylcysteine inhibits the reaction [Particulate Matter results in increased expression of DNMT3B protein]	26942697
D052638	Particulate Matter	DNMT3B protein affects the reaction [Particulate Matter results in decreased expression of TP53 protein]	26942697
D052638	Particulate Matter	DNMT3B protein affects the reaction [Particulate Matter results in increased methylation of TP53 promoter]	26942697
D052638	Particulate Matter	Particulate Matter results in increased expression of DNMT3B protein	26942697
D052638	Particulate Matter	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter promotes the reaction [[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein]]	30481581
D052638	Particulate Matter	2-(2-amino-3-methoxyphenyl)-4H-1-benzopyran-4-one inhibits the reaction [Particulate Matter results in increased expression of DNMT3B protein]	30481581
D052638	Particulate Matter	Decitabine inhibits the reaction [Particulate Matter promotes the reaction [[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein]]	30481581
D052638	Particulate Matter	Decitabine inhibits the reaction [Particulate Matter results in increased expression of DNMT3B protein]	30481581
D052638	Particulate Matter	[ovalbumin-alum co-treated with Ovalbumin] promotes the reaction [Particulate Matter results in increased expression of DNMT3B protein]	30481581
D052638	Particulate Matter	Particulate Matter promotes the reaction [[ovalbumin-alum co-treated with Ovalbumin] results in increased expression of DNMT3B protein]	30481581
D052638	Particulate Matter	Particulate Matter results in increased expression of DNMT3B protein	30481581
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of DNMT3B mRNA	25510870
C066957	pelargonidin	pelargonidin results in decreased expression of DNMT3B protein	31181187
D010396	Penicillamine	Penicillamine promotes the reaction [ATP7B protein mutant form results in decreased expression of DNMT3B mRNA]	22945834
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of DNMT3B mRNA	31508952
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of DNMT3B protein	31508952
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of DNMT3B protein	26178269
D010634	Phenobarbital	Phenobarbital affects the expression of DNMT3B mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in decreased expression of DNMT3B mRNA	19270015
D010634	Phenobarbital	Phenobarbital results in decreased expression of DNMT3B mRNA	28495587
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 DNMT3B mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of DNMT3B mRNA	26272509
C006253	pirinixic acid	pirinixic acid results in decreased expression of DNMT3B mRNA	20813756
D011078	Polychlorinated Biphenyls	Polychlorinated Biphenyls results in decreased expression of DNMT3B mRNA	19636072
D011084	Polycyclic Aromatic Hydrocarbons	Polycyclic Aromatic Hydrocarbons affects the expression of DNMT3B mRNA	23147375
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of DNMT3B mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of DNMT3B mRNA	22079256
C023617	pregna-4,17-diene-3,16-dione	pregna-4,17-diene-3,16-dione results in decreased expression of DNMT3B mRNA	23593078
C479580	procyanidin B2	procyanidin B2 results in increased expression of DNMT3B mRNA	25839702
D011441	Propylthiouracil	Propylthiouracil results in increased expression of DNMT3B mRNA	24780913
C107773	pterostilbene	pterostilbene promotes the reaction [Resveratrol results in decreased expression of DNMT3B mRNA]	26459286
D011791	Quartz	Quartz results in decreased expression of DNMT3B mRNA	27917503
C037219	quinoline	quinoline analog results in decreased activity of DNMT3B protein	19417133
D000077185	Resveratrol	pterostilbene promotes the reaction [Resveratrol results in decreased expression of DNMT3B mRNA]	26459286
D000077185	Resveratrol	Resveratrol inhibits the reaction [Tetrachlorodibenzodioxin promotes the reaction [DNMT3B protein binds to BRCA1 promoter]]	22197621
D000077185	Resveratrol	Resveratrol results in decreased expression of DNMT3B mRNA	23593078; 26459286;
D000077185	Resveratrol	Resveratrol results in increased expression of DNMT3B mRNA	26934322
D000077185	Resveratrol	Resveratrol affects the expression of DNMT3B mRNA	24447120
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in decreased expression of DNMT3B mRNA	21427059
C581203	SGI-1027	SGI-1027 results in decreased activity of DNMT3B protein	25525263
C017947	sodium arsenite	monoisoamyl-2,3-dimercaptosuccinate inhibits the reaction [sodium arsenite results in decreased expression of DNMT3B mRNA]	19615344
C017947	sodium arsenite	sodium arsenite results in decreased expression of DNMT3B mRNA	19615344
C017947	sodium arsenite	sodium arsenite results in increased expression of DNMT3B mRNA	24570342; 30191986;
C017947	sodium arsenite	sodium arsenite results in increased expression of DNMT3B protein	24570342
D013311	Streptozocin	[Streptozocin co-treated with Dietary Fats] results in increased expression of DNMT3B mRNA	29127188
D013311	Streptozocin	[Streptozocin co-treated with Dietary Fats] results in increased expression of DNMT3B protein	29127188
C016766	sulforafan	sulforafan inhibits the reaction [DNMT3B protein binds to COMT promoter]	30684530
C016766	sulforafan	sulforafan inhibits the reaction [Estradiol promotes the reaction [DNMT3B protein binds to COMT promoter]]	30684530
C016766	sulforafan	sulforafan inhibits the reaction [Estradiol results in increased expression of DNMT3B mRNA]	30684530
C016766	sulforafan	sulforafan results in decreased expression of DNMT3B mRNA	24466240
D013629	Tamoxifen	DNMT3B protein affects the reaction [Tamoxifen results in decreased expression of CXCR4 mRNA]	19019622
D013629	Tamoxifen	DNMT3B protein affects the reaction [Tamoxifen results in decreased expression of CXCR4 protein]	19019622
D013629	Tamoxifen	Tamoxifen results in increased expression of DNMT3B mRNA alternative form	19019622
D013629	Tamoxifen	Tamoxifen results in increased expression of DNMT3B protein alternative form	19019622
D013629	Tamoxifen	Tamoxifen results in decreased expression of DNMT3B mRNA	25123088
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in decreased expression of DNMT3B mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of DNMT3B mRNA	21592394
D013739	Testosterone	[Testosterone co-treated with Estradiol] affects the reaction [bisphenol A results in increased expression of DNMT3B mRNA]	22109888
D013739	Testosterone	[Testosterone co-treated with Estradiol] affects the reaction [estradiol-17 beta-benzoate results in increased expression of DNMT3B mRNA]	22109888
D013739	Testosterone	[Testosterone co-treated with vinclozolin] results in increased expression of DNMT3B mRNA	20056826
D013739	Testosterone	[Testosterone co-treated with vinclozolin] results in increased expression of DNMT3B protein	20056826
D013749	Tetrachlorodibenzodioxin	Resveratrol inhibits the reaction [Tetrachlorodibenzodioxin promotes the reaction [DNMT3B protein binds to BRCA1 promoter]]	22197621
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin promotes the reaction [DNMT3B protein binds to BRCA1 promoter]	22197621
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of DNMT3B mRNA	20106945; 21632981;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of DNMT3B mRNA	19770486; 28922406;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of DNMT3B mRNA	26455773
D014212	Tretinoin	Tretinoin results in increased expression of DNMT3B mRNA	20530235
D014212	Tretinoin	Tretinoin results in decreased expression of DNMT3B mRNA	17273765; 21934132;
D014212	Tretinoin	Tretinoin results in decreased expression of DNMT3B mRNA	16788091
D014241	Trichloroethylene	Trichloroethylene results in decreased expression of DNMT3B mRNA	28013219
C012589	trichostatin A	trichostatin A affects the expression of DNMT3B mRNA	18544619
C012589	trichostatin A	[trichostatin A affects the expression of DNMT3B protein] which affects the expression of CDKN1A mRNA	18544619
C012589	trichostatin A	[trichostatin A affects the expression of DNMT3B protein] which affects the expression of CDKN1B mRNA	18544619
C012589	trichostatin A	[trichostatin A affects the expression of DNMT3B protein] which affects the expression of RB1 mRNA	18544619
D014260	Triclosan	Triclosan results in increased expression of DNMT3B mRNA	29596926
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of DNMT3B mRNA	26179874
D014501	Uranium	Uranium results in increased expression of DNMT3B mRNA	29024790
D014635	Valproic Acid	Valproic Acid affects the expression of DNMT3B mRNA	25979313; 26072468;
D014635	Valproic Acid	Valproic Acid affects the expression of DNMT3B mRNA	26072468
D014635	Valproic Acid	Valproic Acid results in decreased expression of DNMT3B mRNA	21427059
C100058	vanillin	vanillin results in decreased expression of DNMT3B mRNA	17178418
C025643	vinclozolin	[Testosterone co-treated with vinclozolin] results in increased expression of DNMT3B mRNA	20056826
C025643	vinclozolin	[Testosterone co-treated with vinclozolin] results in increased expression of DNMT3B protein	20056826
C025643	vinclozolin	vinclozolin results in increased expression of DNMT3B mRNA	20056826
C025643	vinclozolin	vinclozolin results in increased expression of DNMT3B protein	20056826
C025643	vinclozolin	vinclozolin results in decreased expression of DNMT3B mRNA	22496781
C017963	vinyl carbamate	vinyl carbamate results in decreased expression of DNMT3B mRNA	17849452
D024483	Vitamin K 3	Vitamin K 3 affects the expression of DNMT3B mRNA	20044591
C009684	withaferin A	withaferin A results in decreased expression of DNMT3B mRNA	23593078
D000077191	Wortmannin	Wortmannin inhibits the reaction [[4-tert-octylphenol co-treated with 4-nonylphenol] results in decreased expression of DNMT3B protein]	23626723

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0010	Activator
KW-0025	Alternative splicing
KW-0164	Citrullination
KW-0225	Disease mutation
KW-0238	DNA-binding
KW-1017	Isopeptide bond
KW-0479	Metal-binding
KW-0489	Methyltransferase
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0678	Repressor
KW-0949	S-adenosyl-L-methionine
KW-0808	Transferase
KW-0832	Ubl conjugation
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR025766	ADD
IPR018117	C5_DNA_meth_AS
IPR001525	C5_MeTfrase
IPR040552	DNMT3_ADD
IPR030488	DNMT3B_ADD
IPR000313	PWWP_dom
IPR029063	SAM-dependent_MTases
IPR011011	Znf_FYVE_PHD

PROSITE

PROSITE ID	PROSITE Term
PS51533	ADD
PS00094	C5_MTASE_1
PS50812	PWWP
PS51679	SAM_MT_C5

Pfam

Pfam ID	Pfam Term
PF17980	ADD_DNMT3
PF00145	DNA_methylase
PF00855	PWWP

Gene: DNMT3B

Basic information

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