CleftGeneDB-Search

Gene: NSD2

Basic information

Tag	Content
Uniprot ID	O96028; A2A2T2; A2A2T3; A2A2T4; A7MCZ1; D3DVQ2; O96031; Q4VBY8; Q672J1; Q6IS00; Q86V01; Q9BZB4; Q9UI92; Q9UPR2;
Entrez ID	7468
Genbank protein ID	AAD21771.1; BAA83042.2; AAI52413.1; AAC24150.1; AAU09264.1; AAH52254.1; AAD19346.1; EAW82552.1; EAW82548.1; AAD19343.1; AAD19345.1; AAC24151.1; BAF82386.1; EAW82553.1; AAH70176.1; AAH94825.2; AAF23369.1; EAW82557.1; AAD19344.1; CAB45386.1; AAK00344.1; AAD21770.1; AAF23370.1; EAW82556.1; AAI41816.1;
Genbank nucleotide ID	XM_011513557.2; NM_133330.2; XM_006713914.3; NM_133335.3; XM_005248001.3; XM_017008587.1; XM_017008588.1; NM_007331.1; NM_001042424.2; XM_011513560.2; XM_005248005.2; NM_133334.2; NM_133331.2;
Ensembl protein ID	ENSP00000425761; ENSP00000423972; ENSP00000399251; ENSP00000372347; ENSP00000381311; ENSP00000421681; ENSP00000329167; ENSP00000372348; ENSP00000372351; ENSP00000308780; ENSP00000416725; ENSP00000427516; ENSP00000372344;
Ensembl nucleotide ID	ENSG00000109685
Gene name	Histone-lysine N-methyltransferase NSD2
Gene symbol	NSD2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity forming trimethylated 'Lys-27' (H3K27me3). Isoform 2 may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment.
Sequence	MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK AQLSSSLQEG 60 VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF ESQEMKGIGT PPNTTPIKNG 120 SPEIKLKITK TYMNGKPLFE SSICGDSAAD VSQSEENGQK PENKARRNRK RSIKYDSLLE 180 QGLVEAALVS KISSPSDKKI PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV 240 SADPLLHSYT KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEGQF EKLCQESAKQ 300 APTKAEKIKL LKPISGKLRA QWEMGIVQAE EAASMSVEER KAKFTFLYVG DQLHLNPQVA 360 KEAGIAAESL GEMAESSGVS EEAAENPKSV REECIPMKRR RRAKLCSSAE TLESHPDIGK 420 STPQKTAEAD PRRGVGSPPG RKKTTVSMPR SRKGDAASQF LVFCQKHRDE VVAEHPDASG 480 EEIEELLRSQ WSLLSEKQRA RYNTKFALVA PVQAEEDSGN VNGKKRNHTK RIQDPTEDAE 540 AEDTPRKRLR TDKHSLRKRD TITDKTARTS SYKAMEAASS LKSQAATKNL SDACKPLKKR 600 NRASTAASSA LGFSKSSSPS ASLTENEVSD SPGDEPSESP YESADETQTE VSVSSKKSER 660 GVTAKKEYVC QLCEKPGSLL LCEGPCCGAF HLACLGLSRR PEGRFTCSEC ASGIHSCFVC 720 KESKTDVKRC VVTQCGKFYH EACVKKYPLT VFESRGFRCP LHSCVSCHAS NPSNPRPSKG 780 KMMRCVRCPV AYHSGDACLA AGCSVIASNS IICTAHFTAR KGKRHHAHVN VSWCFVCSKG 840 GSLLCCESCP AAFHPDCLNI EMPDGSWFCN DCRAGKKLHF QDIIWVKLGN YRWWPAEVCH 900 PKNVPPNIQK MKHEIGEFPV FFFGSKDYYW THQARVFPYM EGDRGSRYQG VRGIGRVFKN 960 ALQEAEARFR EIKLQREARE TQESERKPPP YKHIKVNKPY GKVQIYTADI SEIPKCNCKP 1020 TDENPCGFDS ECLNRMLMFE CHPQVCPAGE FCQNQCFTKR QYPETKIIKT DGKGWGLVAK 1080 RDIRKGEFVN EYVGELIDEE ECMARIKHAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM 1140 NHSCQPNCET LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG 1200 FLGDRPKTST TLSSEEKGKK TKKKTRRRRA KGEGKRQSED ECFRCGDGGQ LVLCDRKFCT 1260 KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP NSFCKEHQDG TAFSCTPDGR 1320 SYCCEHDLGA ASVRSTKTEK PPPEPGKPKG KRRRRRGWRR VTEGK 1365

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.

Protein structural annotations

3D structure in PDB database

PDB ID
5LSU
5VC8
6UE6
5LSU
5VC8

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	NSD2	102186471	A0A452E027			Capra hircus	Prediction	More>>
1:1 ortholog	NSD2		A0A5F5PRN6			Equus caballus	Prediction	More>>
1:1 ortholog	NSD2	7468	O96028			Homo sapiens	Prediction	More>>
1:1 ortholog	Nsd2	107823	Q8BVE8	CPO	E13.5	Mus musculus	Publication	More>>
1:1 ortholog	NSD2	461070	H2QP41			Pan troglodytes	Prediction	More>>
1:1 ortholog	NSD2		F1S8S1			Sus scrofa	Prediction	More>>
1:1 ortholog	Nsd2	680537	D4A9J4			Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs917196718	p.Phe3Leu	missense variant	-	NC_000004.12:g.1900663T>G	TOPMed
rs753120179	p.Ser4Asn	missense variant	-	NC_000004.12:g.1900665G>A	ExAC,TOPMed,gnomAD
RCV000273154	p.Ser4Asn	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1900665G>A	ClinVar
rs770543236	p.Gln7Glu	missense variant	-	NC_000004.12:g.1900673C>G	ExAC,TOPMed,gnomAD
rs1328532362	p.Leu10Val	missense variant	-	NC_000004.12:g.1900682C>G	gnomAD
COSM3602800	p.Ser11Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1900686C>T	NCI-TCGA Cosmic
rs199734752	p.Ser11Cys	missense variant	-	NC_000004.12:g.1900686C>G	1000Genomes,ExAC,gnomAD
rs372147092	p.Val12Leu	missense variant	-	NC_000004.12:g.1900688G>C	ESP,ExAC,TOPMed,gnomAD
rs769348800	p.Ser14Thr	missense variant	-	NC_000004.12:g.1900695G>C	ExAC,gnomAD
rs1350111590	p.Val16Ile	missense variant	-	NC_000004.12:g.1900700G>A	gnomAD
rs1350111590	p.Val16Leu	missense variant	-	NC_000004.12:g.1900700G>T	gnomAD
rs762019994	p.Lys17Asn	missense variant	-	NC_000004.12:g.1900705G>C	ExAC,gnomAD
rs1263717370	p.Cys18Gly	missense variant	-	NC_000004.12:g.1900706T>G	gnomAD
rs1464089790	p.Ile19Val	missense variant	-	NC_000004.12:g.1900709A>G	gnomAD
rs765662635	p.Lys20Asn	missense variant	-	NC_000004.12:g.1900714G>C	ExAC,gnomAD
COSM3602802	p.Met21Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1900716T>G	NCI-TCGA Cosmic
rs1198342544	p.Gln23Glu	missense variant	-	NC_000004.12:g.1900721C>G	gnomAD
rs546312898	p.Pro25Thr	missense variant	-	NC_000004.12:g.1900727C>A	1000Genomes,ExAC,gnomAD
COSM1054414	p.Ile27Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1900734T>A	NCI-TCGA Cosmic
rs1362685503	p.Ile27Val	missense variant	-	NC_000004.12:g.1900733A>G	gnomAD
rs754895784	p.Gly29Ser	missense variant	-	NC_000004.12:g.1900739G>A	ExAC,TOPMed,gnomAD
rs1423297284	p.Asn32Ser	missense variant	-	NC_000004.12:g.1900749A>G	gnomAD
rs774534172	p.Gly33Arg	missense variant	-	NC_000004.12:g.1900751G>A	ExAC,TOPMed,gnomAD
rs1305185045	p.Lys34Arg	missense variant	-	NC_000004.12:g.1900755A>G	gnomAD
rs777673792	p.Lys34Asn	missense variant	-	NC_000004.12:g.1900756G>T	ExAC,gnomAD
rs748919506	p.Thr35Ala	missense variant	-	NC_000004.12:g.1900757A>G	ExAC,TOPMed,gnomAD
rs778558019	p.Pro36Leu	missense variant	-	NC_000004.12:g.1900761C>T	ExAC,TOPMed,gnomAD
rs1490792778	p.Glu39Lys	missense variant	-	NC_000004.12:g.1900769G>A	gnomAD
rs1400660779	p.Glu39Gly	missense variant	-	NC_000004.12:g.1900770A>G	TOPMed
COSM1054415	p.Arg42His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1900779G>A	NCI-TCGA Cosmic
rs1165866735	p.Glu43Lys	missense variant	-	NC_000004.12:g.1900781G>A	TOPMed
rs1249333230	p.Cys44Phe	missense variant	-	NC_000004.12:g.1900785G>T	gnomAD
NCI-TCGA novel	p.Leu48Ile	missense variant	-	NC_000004.12:g.1900796C>A	NCI-TCGA
RCV000760760	p.Gln52Ter	nonsense	-	NC_000004.12:g.1900808C>T	ClinVar
rs748707745	p.Gln52Ter	stop gained	-	NC_000004.12:g.1900808C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu53Phe	missense variant	-	NC_000004.12:g.1900811C>T	NCI-TCGA
rs770028586	p.Ser55Gly	missense variant	-	NC_000004.12:g.1900817A>G	ExAC,gnomAD
rs773660936	p.Ser56Gly	missense variant	-	NC_000004.12:g.1900820A>G	ExAC,gnomAD
rs546522074	p.Leu57Met	missense variant	-	NC_000004.12:g.1900823C>A	gnomAD
rs1443100451	p.Glu59Lys	missense variant	-	NC_000004.12:g.1900829G>A	TOPMed
rs1366552622	p.Gly60Arg	missense variant	-	NC_000004.12:g.1900832G>A	TOPMed,gnomAD
rs890741591	p.Met62Val	missense variant	-	NC_000004.12:g.1900838A>G	TOPMed,gnomAD
rs766646098	p.Met62Thr	missense variant	-	NC_000004.12:g.1900839T>C	ExAC,TOPMed,gnomAD
rs202235551	p.Gly67Ser	missense variant	-	NC_000004.12:g.1900853G>A	ESP,ExAC,TOPMed,gnomAD
RCV000269913	p.Gly67Ser	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1900853G>A	ClinVar
rs752556934	p.His68Arg	missense variant	-	NC_000004.12:g.1900857A>G	ExAC,gnomAD
rs1401743505	p.Asp69Asn	missense variant	-	NC_000004.12:g.1900859G>A	gnomAD
rs757135156	p.Ala70Asp	missense variant	-	NC_000004.12:g.1900863C>A	ExAC,gnomAD
rs753748334	p.Ala70Thr	missense variant	-	NC_000004.12:g.1900862G>A	ExAC,gnomAD
rs1197242726	p.Leu71Pro	missense variant	-	NC_000004.12:g.1900866T>C	gnomAD
COSM3602804	p.Pro72Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1900869C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro75Leu	missense variant	-	NC_000004.12:g.1900878C>T	NCI-TCGA
rs748567663	p.Pro75Ala	missense variant	-	NC_000004.12:g.1900877C>G	ExAC,gnomAD
rs770395467	p.Ala76Thr	missense variant	-	NC_000004.12:g.1900880G>A	ExAC,gnomAD
rs770395467	p.Ala76Ser	missense variant	-	NC_000004.12:g.1900880G>T	ExAC,gnomAD
rs749595883	p.Asp77Asn	missense variant	-	NC_000004.12:g.1900883G>A	ExAC,TOPMed,gnomAD
rs200621548	p.Asp77Glu	missense variant	-	NC_000004.12:g.1900885C>G	TOPMed
rs771287635	p.Asp81Tyr	missense variant	-	NC_000004.12:g.1900895G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser84Phe	missense variant	-	NC_000004.12:g.1900905C>T	NCI-TCGA
NCI-TCGA novel	p.Arg85Leu	missense variant	-	NC_000004.12:g.1900908G>T	NCI-TCGA
rs201573732	p.Arg85Trp	missense variant	-	NC_000004.12:g.1900907C>T	ExAC,gnomAD
rs759803629	p.Arg85Gln	missense variant	-	NC_000004.12:g.1900908G>A	ExAC,gnomAD
rs772015827	p.Gly89Glu	missense variant	-	NC_000004.12:g.1900920G>A	ExAC,TOPMed,gnomAD
rs764038848	p.Gly92Ser	missense variant	-	NC_000004.12:g.1900928G>A	ExAC,TOPMed,gnomAD
rs761663126	p.Ala93Thr	missense variant	-	NC_000004.12:g.1900931G>A	ExAC,TOPMed,gnomAD
rs1260819566	p.His94Tyr	missense variant	-	NC_000004.12:g.1900934C>T	gnomAD
rs1263035862	p.Ala96Ser	missense variant	-	NC_000004.12:g.1900940G>T	gnomAD
rs376638264	p.Lys97Arg	missense variant	-	NC_000004.12:g.1900944A>G	ESP,TOPMed,gnomAD
rs909009733	p.Lys97Gln	missense variant	-	NC_000004.12:g.1900943A>C	TOPMed,gnomAD
rs909009733	p.Lys97Glu	missense variant	-	NC_000004.12:g.1900943A>G	TOPMed,gnomAD
rs376638264	p.Lys97Thr	missense variant	-	NC_000004.12:g.1900944A>C	ESP,TOPMed,gnomAD
rs1261446605	p.Leu98Arg	missense variant	-	NC_000004.12:g.1900947T>G	gnomAD
rs758105062	p.Leu98Val	missense variant	-	NC_000004.12:g.1900946C>G	ExAC,gnomAD
rs779422565	p.Arg99Cys	missense variant	-	NC_000004.12:g.1900949C>T	ExAC,TOPMed,gnomAD
rs751138696	p.Arg99His	missense variant	-	NC_000004.12:g.1900950G>A	ExAC,gnomAD
rs925579283	p.Glu101Asp	missense variant	-	NC_000004.12:g.1900957G>C	TOPMed
rs754460633	p.Ser102Thr	missense variant	-	NC_000004.12:g.1900958T>A	ExAC,TOPMed,gnomAD
rs778184509	p.Ser102Cys	missense variant	-	NC_000004.12:g.1900959C>G	ExAC,gnomAD
rs749825396	p.Gln103Glu	missense variant	-	NC_000004.12:g.1900961C>G	ExAC,TOPMed,gnomAD
rs974437164	p.Gln103Arg	missense variant	-	NC_000004.12:g.1900962A>G	TOPMed,gnomAD
rs1428525782	p.Met105Val	missense variant	-	NC_000004.12:g.1900967A>G	gnomAD
rs1271075487	p.Lys106Glu	missense variant	-	NC_000004.12:g.1900970A>G	TOPMed
rs771265108	p.Gly107Arg	missense variant	-	NC_000004.12:g.1900973G>A	ExAC,gnomAD
rs1362608884	p.Ile108Phe	missense variant	-	NC_000004.12:g.1900976A>T	gnomAD
NCI-TCGA novel	p.Gly109Trp	missense variant	-	NC_000004.12:g.1900979G>T	NCI-TCGA
rs746073848	p.Pro111Leu	missense variant	-	NC_000004.12:g.1900986C>T	ExAC,TOPMed,gnomAD
rs541714722	p.Pro111Thr	missense variant	-	NC_000004.12:g.1900985C>A	1000Genomes,ExAC,gnomAD
rs746073848	p.Pro111Arg	missense variant	-	NC_000004.12:g.1900986C>G	ExAC,TOPMed,gnomAD
rs1192924102	p.Pro112Thr	missense variant	-	NC_000004.12:g.1900988C>A	gnomAD
rs1322308834	p.Pro112Arg	missense variant	-	NC_000004.12:g.1900989C>G	gnomAD
NCI-TCGA novel	p.Asn113Ter	frameshift	-	NC_000004.12:g.1900984_1900985insC	NCI-TCGA
rs200319561	p.Thr114Ser	missense variant	-	NC_000004.12:g.1900995C>G	ESP,ExAC,TOPMed,gnomAD
rs564864503	p.Pro116Ser	missense variant	-	NC_000004.12:g.1901000C>T	gnomAD
rs78479906	p.Ile117Thr	missense variant	-	NC_000004.12:g.1901004T>C	1000Genomes,ExAC
rs775593120	p.Ile117Val	missense variant	-	NC_000004.12:g.1901003A>G	ExAC,TOPMed,gnomAD
rs1196229263	p.Ser121Cys	missense variant	-	NC_000004.12:g.1901016C>G	gnomAD
rs1486493780	p.Ser121Pro	missense variant	-	NC_000004.12:g.1901015T>C	gnomAD
rs1175154998	p.Ile128Val	missense variant	-	NC_000004.12:g.1901036A>G	gnomAD
rs140401180	p.Met133Thr	missense variant	-	NC_000004.12:g.1901052T>C	ESP,ExAC,TOPMed,gnomAD
rs765090322	p.Gly135Arg	missense variant	-	NC_000004.12:g.1901057G>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys136Glu	missense variant	-	NC_000004.12:g.1901060A>G	NCI-TCGA
NCI-TCGA novel	p.Pro137Leu	missense variant	-	NC_000004.12:g.1901064C>T	NCI-TCGA
rs1421443584	p.Leu138Val	missense variant	-	NC_000004.12:g.1901066C>G	gnomAD
rs762496382	p.Ile143Met	missense variant	-	NC_000004.12:g.1901083T>G	ExAC,gnomAD
rs373286964	p.Cys144Tyr	missense variant	-	NC_000004.12:g.1901085G>A	ESP,TOPMed
rs765998236	p.Ser147Thr	missense variant	-	NC_000004.12:g.1901094G>C	ExAC,TOPMed
rs145603828	p.Ala149Thr	missense variant	-	NC_000004.12:g.1901099G>A	ESP,ExAC,TOPMed,gnomAD
rs754468750	p.Val151Ala	missense variant	-	NC_000004.12:g.1901106T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser154Leu	missense variant	-	NC_000004.12:g.1901115C>T	NCI-TCGA
COSM4818298	p.Glu155Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1901117G>C	NCI-TCGA Cosmic
rs754314502	p.Glu155Lys	missense variant	-	NC_000004.12:g.1901117G>A	ExAC,gnomAD
COSM1567386	p.Asn157Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1901123A>T	NCI-TCGA Cosmic
rs757829574	p.Asn157Thr	missense variant	-	NC_000004.12:g.1901124A>C	ExAC,TOPMed,gnomAD
rs779235854	p.Gly158Arg	missense variant	-	NC_000004.12:g.1901126G>A	ExAC,gnomAD
rs568583435	p.Pro161Thr	missense variant	-	NC_000004.12:g.1901135C>A	1000Genomes,ExAC,gnomAD
rs758697327	p.Glu162Gln	missense variant	-	NC_000004.12:g.1901138G>C	ExAC,gnomAD
rs780286540	p.Asn163Lys	missense variant	-	NC_000004.12:g.1901143C>G	ExAC,TOPMed,gnomAD
rs373161300	p.Ala165Val	missense variant	-	NC_000004.12:g.1901148C>T	ESP,ExAC,TOPMed,gnomAD
rs1324420839	p.Arg167Ser	missense variant	-	NC_000004.12:g.1901155G>T	TOPMed
rs768831620	p.Arg171Lys	missense variant	-	NC_000004.12:g.1901166G>A	ExAC,gnomAD
rs768831620	p.Arg171Thr	missense variant	-	NC_000004.12:g.1901166G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser172Cys	missense variant	-	NC_000004.12:g.1901168A>T	NCI-TCGA
rs1055872699	p.Ile173Val	missense variant	-	NC_000004.12:g.1901171A>G	TOPMed
NCI-TCGA novel	p.Ile173Leu	missense variant	-	NC_000004.12:g.1901171A>C	NCI-TCGA
rs1441448478	p.Ile173Met	missense variant	-	NC_000004.12:g.1901173A>G	gnomAD
rs776888983	p.Lys174Thr	missense variant	-	NC_000004.12:g.1901175A>C	ExAC,TOPMed,gnomAD
rs748089712	p.Tyr175Cys	missense variant	-	NC_000004.12:g.1901178A>G	ExAC,TOPMed
COSM4400729	p.Ser177Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1901184C>T	NCI-TCGA Cosmic
rs1325306850	p.Leu178Ser	missense variant	-	NC_000004.12:g.1901187T>C	gnomAD
rs1352348277	p.Glu180Asp	missense variant	-	NC_000004.12:g.1901194G>T	gnomAD
rs994171255	p.Gln181Arg	missense variant	-	NC_000004.12:g.1901196A>G	TOPMed,gnomAD
rs769906407	p.Gln181His	missense variant	-	NC_000004.12:g.1901197G>C	ExAC,TOPMed,gnomAD
rs773295682	p.Gly182Ser	missense variant	-	NC_000004.12:g.1901198G>A	ExAC,gnomAD
rs1026029934	p.Gly182Asp	missense variant	-	NC_000004.12:g.1901199G>A	TOPMed,gnomAD
rs1024108009	p.Leu183Val	missense variant	-	NC_000004.12:g.1901201C>G	TOPMed
rs1313506074	p.Val184Ala	missense variant	-	NC_000004.12:g.1901205T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu185Lys	missense variant	-	NC_000004.12:g.1901207G>A	NCI-TCGA
RCV000279153	p.Leu188Val	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1901216C>G	ClinVar
rs886059315	p.Leu188Phe	missense variant	-	NC_000004.12:g.1901216C>T	gnomAD
rs886059315	p.Leu188Val	missense variant	-	NC_000004.12:g.1901216C>G	gnomAD
rs1292473830	p.Val189Met	missense variant	-	NC_000004.12:g.1901219G>A	gnomAD
NCI-TCGA novel	p.Ser190LeuPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.1901221_1901222insCTGCTTCCTTTTTTTCCCCC	NCI-TCGA
rs1436285466	p.Ile192Val	missense variant	-	NC_000004.12:g.1901228A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser193Thr	missense variant	-	NC_000004.12:g.1901231T>A	NCI-TCGA
COSM3775750	p.Pro195Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1901237C>G	NCI-TCGA Cosmic
rs752263356	p.Pro195Leu	missense variant	-	NC_000004.12:g.1901238C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile200AspPheSerTerUnk	frameshift	-	NC_000004.12:g.1901245_1901246insA	NCI-TCGA
rs1398870006	p.Glu205Gln	missense variant	-	NC_000004.12:g.1904231G>C	gnomAD
rs1325234907	p.Ser206Cys	missense variant	-	NC_000004.12:g.1904235C>G	TOPMed,gnomAD
rs1430402689	p.Pro208Thr	missense variant	-	NC_000004.12:g.1904240C>A	gnomAD
rs766759466	p.Thr210Ala	missense variant	-	NC_000004.12:g.1904246A>G	ExAC,TOPMed,gnomAD
rs192103195	p.Gly211Glu	missense variant	-	NC_000004.12:g.1904250G>A	1000Genomes,ExAC,gnomAD
rs781497272	p.Arg212Gly	missense variant	-	NC_000004.12:g.1904252A>G	ExAC,TOPMed,gnomAD
rs1345867166	p.Arg212Thr	missense variant	-	NC_000004.12:g.1904253G>C	gnomAD
rs1373329229	p.Lys214Glu	missense variant	-	NC_000004.12:g.1904258A>G	TOPMed
rs756213696	p.Asp215Gly	missense variant	-	NC_000004.12:g.1904262A>G	ExAC,gnomAD
rs557801913	p.His216Tyr	missense variant	-	NC_000004.12:g.1904264C>T	1000Genomes,ExAC,gnomAD
rs577771710	p.Asn221Ser	missense variant	-	NC_000004.12:g.1904280A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs150146753	p.Val222Ile	missense variant	-	NC_000004.12:g.1904282G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys229Glu	missense variant	-	NC_000004.12:g.1904303A>G	NCI-TCGA
rs1460755399	p.Val230Ala	missense variant	-	NC_000004.12:g.1904307T>C	TOPMed
rs750127826	p.Ser231Leu	missense variant	-	NC_000004.12:g.1904310C>T	ExAC,gnomAD
rs768184951	p.Gly232Arg	missense variant	-	NC_000004.12:g.1904312G>C	ExAC,gnomAD
RCV000736076	p.Trp236Ter	nonsense	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1904326G>A	ClinVar
rs1403312398	p.Met239Val	missense variant	-	NC_000004.12:g.1904333A>G	gnomAD
rs776067673	p.Leu245Phe	missense variant	-	NC_000004.12:g.1904351C>T	ExAC,TOPMed,gnomAD
rs776067673	p.Leu245Val	missense variant	-	NC_000004.12:g.1904351C>G	ExAC,TOPMed,gnomAD
rs1235439143	p.Ser248Asn	missense variant	-	NC_000004.12:g.1904361G>A	gnomAD
rs1241410661	p.Tyr249His	missense variant	-	NC_000004.12:g.1904363T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Lys251Thr	missense variant	-	NC_000004.12:g.1904370A>C	NCI-TCGA
rs766736390	p.Lys251Arg	missense variant	-	NC_000004.12:g.1904370A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser258GluPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.1916875_1916876insA	NCI-TCGA
NCI-TCGA novel	p.Ala259Ser	missense variant	-	NC_000004.12:g.1916885G>T	NCI-TCGA
COSM1054429	p.Arg260Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1916888C>T	NCI-TCGA Cosmic
COSM1309964	p.His263Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1916897C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val264Ile	missense variant	-	NC_000004.12:g.1916900G>A	NCI-TCGA
RCV000736077	p.Gln265Ter	nonsense	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1916903C>T	ClinVar
rs556204462	p.Ala270Val	missense variant	-	NC_000004.12:g.1916919C>T	1000Genomes,ExAC,gnomAD
rs372805518	p.Ala270Thr	missense variant	-	NC_000004.12:g.1916918G>A	ESP,ExAC,gnomAD
rs754123039	p.Ala274Ser	missense variant	-	NC_000004.12:g.1916930G>T	ExAC,gnomAD
rs754123039	p.Ala274Thr	missense variant	-	NC_000004.12:g.1916930G>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp275Leu	missense variant	-	NC_000004.12:g.1916934G>T	NCI-TCGA
rs757238305	p.Ile276Met	missense variant	-	NC_000004.12:g.1916938A>G	ExAC,gnomAD
rs377282154	p.Phe277Leu	missense variant	-	NC_000004.12:g.1916939T>C	ESP,ExAC,TOPMed,gnomAD
rs773417934	p.Glu278Asp	missense variant	-	NC_000004.12:g.1916944G>C	TOPMed,gnomAD
rs1162158242	p.Ser280Gly	missense variant	-	NC_000004.12:g.1916948A>G	gnomAD
rs750333708	p.Leu281Ile	missense variant	-	NC_000004.12:g.1916951C>A	ExAC,TOPMed,gnomAD
rs1033486520	p.Val282Ile	missense variant	-	NC_000004.12:g.1916954G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala283Thr	missense variant	-	NC_000004.12:g.1916957G>A	NCI-TCGA
rs1466344253	p.Ala283Gly	missense variant	-	NC_000004.12:g.1916958C>G	gnomAD
NCI-TCGA novel	p.Phe284Cys	missense variant	-	NC_000004.12:g.1916961T>G	NCI-TCGA
COSM6167351	p.Glu285Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1916965A>C	NCI-TCGA Cosmic
rs746743921	p.Glu287Gly	missense variant	-	NC_000004.12:g.1916970A>G	ExAC,gnomAD
rs754805178	p.Gly288Glu	missense variant	-	NC_000004.12:g.1916973G>A	ExAC,TOPMed,gnomAD
rs1303399819	p.Glu291Gly	missense variant	-	NC_000004.12:g.1916982A>G	gnomAD
NCI-TCGA novel	p.Lys292Ter	stop gained	-	NC_000004.12:g.1916987_1916988insAAAATGTTAGAGAATGAAAGTTAGAATCTGGGATGAAAC	NCI-TCGA
rs769162551	p.Cys294Arg	missense variant	-	NC_000004.12:g.1916990T>C	ExAC,TOPMed,gnomAD
rs769162551	p.Cys294Gly	missense variant	-	NC_000004.12:g.1916990T>G	ExAC,TOPMed,gnomAD
rs1334376909	p.Cys294Phe	missense variant	-	NC_000004.12:g.1916991G>T	gnomAD
RCV000391888	p.Gln295Leu	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1916994A>T	ClinVar
rs144431814	p.Gln295Arg	missense variant	-	NC_000004.12:g.1916994A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144431814	p.Gln295Leu	missense variant	-	NC_000004.12:g.1916994A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746372645	p.Glu296Gly	missense variant	-	NC_000004.12:g.1916997A>G	ExAC
rs202207779	p.Pro302Ser	missense variant	-	NC_000004.12:g.1917014C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1260679780	p.Ala305Val	missense variant	-	NC_000004.12:g.1917024C>T	gnomAD
rs1356191814	p.Glu306Gly	missense variant	-	NC_000004.12:g.1917027A>G	TOPMed,gnomAD
rs967018941	p.Ile308Thr	missense variant	-	NC_000004.12:g.1917033T>C	TOPMed
rs760909823	p.Ile308Met	missense variant	-	NC_000004.12:g.1917034T>G	ExAC,gnomAD
rs1238040522	p.Leu311Phe	missense variant	-	NC_000004.12:g.1918146G>T	gnomAD
RCV000339914	p.Ile314Val	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1918153A>G	ClinVar
rs371529672	p.Ile314Val	missense variant	-	NC_000004.12:g.1918153A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770598241	p.Ser315Ala	missense variant	-	NC_000004.12:g.1918156T>G	ExAC,gnomAD
rs1488845434	p.Ser315Leu	missense variant	-	NC_000004.12:g.1918157C>T	gnomAD
rs1266982310	p.Arg319Lys	missense variant	-	NC_000004.12:g.1918169G>A	gnomAD
rs747603711	p.Ala320Thr	missense variant	-	NC_000004.12:g.1918171G>A	ExAC,TOPMed,gnomAD
rs1427424974	p.Gln321His	missense variant	-	NC_000004.12:g.1918176G>T	gnomAD
rs1380872489	p.Val327Phe	missense variant	-	NC_000004.12:g.1918192G>T	TOPMed,gnomAD
rs761932000	p.Gln328Glu	missense variant	-	NC_000004.12:g.1918195C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala329Gly	missense variant	-	NC_000004.12:g.1918199C>G	NCI-TCGA
rs1359955856	p.Ala333Val	missense variant	-	NC_000004.12:g.1918211C>T	TOPMed
rs1294763394	p.Ser334Gly	missense variant	-	NC_000004.12:g.1918213A>G	gnomAD
rs1238576646	p.Met335Thr	missense variant	-	NC_000004.12:g.1918217T>C	gnomAD
rs762977766	p.Met335Val	missense variant	-	NC_000004.12:g.1918216A>G	ExAC,gnomAD
rs762977766	p.Met335Leu	missense variant	-	NC_000004.12:g.1918216A>C	ExAC,gnomAD
rs1355075058	p.Ser336Leu	missense variant	-	NC_000004.12:g.1918220C>T	gnomAD
rs766466000	p.Ser336Pro	missense variant	-	NC_000004.12:g.1918219T>C	ExAC,TOPMed,gnomAD
COSM1429066	p.Val337Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1918222G>A	NCI-TCGA Cosmic
rs1432951280	p.Val337Glu	missense variant	-	NC_000004.12:g.1918223T>A	TOPMed
rs1159806209	p.Arg340Gln	missense variant	-	NC_000004.12:g.1918232G>A	TOPMed
NCI-TCGA novel	p.Ala342Ser	missense variant	-	NC_000004.12:g.1918237G>T	NCI-TCGA
rs1288253121	p.Phe344Tyr	missense variant	-	NC_000004.12:g.1918244T>A	gnomAD
rs1422010407	p.Thr345Ile	missense variant	-	NC_000004.12:g.1918247C>T	TOPMed
rs759556940	p.Phe346Ile	missense variant	-	NC_000004.12:g.1918249T>A	ExAC
rs752594374	p.Tyr348Cys	missense variant	-	NC_000004.12:g.1918256A>G	ExAC,TOPMed,gnomAD
rs752594374	p.Tyr348Phe	missense variant	-	NC_000004.12:g.1918256A>T	ExAC,TOPMed,gnomAD
rs1248495684	p.Tyr348His	missense variant	-	NC_000004.12:g.1918255T>C	gnomAD
rs777528706	p.Val349Met	missense variant	-	NC_000004.12:g.1918258G>A	ExAC,gnomAD
rs1238838764	p.Gly350Glu	missense variant	-	NC_000004.12:g.1918262G>A	TOPMed
rs1161442762	p.Asp351Glu	missense variant	-	NC_000004.12:g.1918266C>A	gnomAD
rs1185258343	p.Leu353Val	missense variant	-	NC_000004.12:g.1918270C>G	TOPMed
rs1485072620	p.His354Leu	missense variant	-	NC_000004.12:g.1918274A>T	TOPMed
rs1405575368	p.Val359Leu	missense variant	-	NC_000004.12:g.1918288G>T	gnomAD
rs1166527461	p.Ala360Val	missense variant	-	NC_000004.12:g.1918292C>T	TOPMed,gnomAD
rs1166527461	p.Ala360Asp	missense variant	-	NC_000004.12:g.1918292C>A	TOPMed,gnomAD
rs1445338131	p.Lys361Arg	missense variant	-	NC_000004.12:g.1918295A>G	gnomAD
rs199762353	p.Lys361Gln	missense variant	-	NC_000004.12:g.1918294A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs747469766	p.Glu362Val	missense variant	-	NC_000004.12:g.1918298A>T	ExAC,TOPMed,gnomAD
rs769268150	p.Glu362Asp	missense variant	-	NC_000004.12:g.1918299G>T	ExAC,TOPMed,gnomAD
rs1449724087	p.Ala363Thr	missense variant	-	NC_000004.12:g.1918300G>A	gnomAD
rs1356140581	p.Ala366Val	missense variant	-	NC_000004.12:g.1918310C>T	gnomAD
rs1229281568	p.Ala367Val	missense variant	-	NC_000004.12:g.1918313C>T	TOPMed,gnomAD
rs1292228347	p.Glu368Lys	missense variant	-	NC_000004.12:g.1918315G>A	gnomAD
rs1198012129	p.Ser369Tyr	missense variant	-	NC_000004.12:g.1918319C>A	gnomAD
rs1316305610	p.Ser369Pro	missense variant	-	NC_000004.12:g.1918318T>C	gnomAD
rs1238938071	p.Leu370Ser	missense variant	-	NC_000004.12:g.1918322T>C	TOPMed,gnomAD
rs1340467827	p.Gly371Glu	missense variant	-	NC_000004.12:g.1918325G>A	gnomAD
rs773370922	p.Ala374Glu	missense variant	-	NC_000004.12:g.1918334C>A	ExAC,gnomAD
rs770171601	p.Ala374Thr	missense variant	-	NC_000004.12:g.1918333G>A	ExAC,TOPMed,gnomAD
rs773370922	p.Ala374Val	missense variant	-	NC_000004.12:g.1918334C>T	ExAC,gnomAD
rs763209260	p.Glu375Lys	missense variant	-	NC_000004.12:g.1918336G>A	ExAC,TOPMed,gnomAD
rs1472983214	p.Ser376Phe	missense variant	-	NC_000004.12:g.1918340C>T	gnomAD
rs140212386	p.Gly378Glu	missense variant	-	NC_000004.12:g.1918346G>A	ESP,TOPMed
rs770966499	p.Val379Ile	missense variant	-	NC_000004.12:g.1918348G>A	ExAC,gnomAD
rs770966499	p.Val379Phe	missense variant	-	NC_000004.12:g.1918348G>T	ExAC,gnomAD
rs1416878451	p.Ser380Asn	missense variant	-	NC_000004.12:g.1918352G>A	gnomAD
rs774556109	p.Ser380Arg	missense variant	-	NC_000004.12:g.1918353T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu381Ter	stop gained	-	NC_000004.12:g.1918354G>T	NCI-TCGA
rs759377936	p.Glu382Lys	missense variant	-	NC_000004.12:g.1918357G>A	ExAC,gnomAD
rs1401905410	p.Ala383Gly	missense variant	-	NC_000004.12:g.1918361C>G	TOPMed,gnomAD
rs767422079	p.Ala384Thr	missense variant	-	NC_000004.12:g.1918363G>A	ExAC,gnomAD
rs1340418858	p.Pro387Ala	missense variant	-	NC_000004.12:g.1918372C>G	gnomAD
rs760499309	p.Lys388Arg	missense variant	-	NC_000004.12:g.1918376A>G	ExAC,TOPMed,gnomAD
rs760499309	p.Lys388Thr	missense variant	-	NC_000004.12:g.1918376A>C	ExAC,TOPMed,gnomAD
rs753512534	p.Lys388Asn	missense variant	-	NC_000004.12:g.1918377G>C	ExAC,TOPMed,gnomAD
rs753512534	p.Lys388Asn	missense variant	-	NC_000004.12:g.1918377G>T	ExAC,TOPMed,gnomAD
rs1338705176	p.Ser389Pro	missense variant	-	NC_000004.12:g.1918378T>C	gnomAD
rs749895097	p.Val390Leu	missense variant	-	NC_000004.12:g.1918381G>C	ExAC,gnomAD
rs890082810	p.Arg391Gly	missense variant	-	NC_000004.12:g.1918384A>G	TOPMed
NCI-TCGA novel	p.Glu392AspPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.1918388_1918389insCTTTGGCATGTGGCATGGAAGGGATAAGAAGT	NCI-TCGA
NCI-TCGA novel	p.Glu393Asp	missense variant	-	NC_000004.12:g.1918392G>T	NCI-TCGA
rs1320151142	p.Cys394Tyr	missense variant	-	NC_000004.12:g.1918394G>A	TOPMed,gnomAD
rs1320151142	p.Cys394Phe	missense variant	-	NC_000004.12:g.1918394G>T	TOPMed,gnomAD
rs757846841	p.Ile395Val	missense variant	-	NC_000004.12:g.1918396A>G	ExAC,TOPMed,gnomAD
COSM6167347	p.Lys398Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1918407G>T	NCI-TCGA Cosmic
rs1211896693	p.Arg401Trp	missense variant	-	NC_000004.12:g.1918414C>T	TOPMed,gnomAD
rs748673417	p.Arg401Gln	missense variant	-	NC_000004.12:g.1918415G>A	ExAC,gnomAD
rs1477277482	p.Arg402Lys	missense variant	-	NC_000004.12:g.1918418G>A	gnomAD
rs1323304367	p.Glu410Asp	missense variant	-	NC_000004.12:g.1918443G>T	TOPMed
rs1222147246	p.Glu410Val	missense variant	-	NC_000004.12:g.1918442A>T	TOPMed
rs1270991536	p.Thr411Ile	missense variant	-	NC_000004.12:g.1918445C>T	TOPMed
NCI-TCGA novel	p.Glu413Asp	missense variant	-	NC_000004.12:g.1918452G>T	NCI-TCGA
rs1171494347	p.Ser414Thr	missense variant	-	NC_000004.12:g.1918454G>C	gnomAD
rs1278980140	p.Pro416Ser	missense variant	-	NC_000004.12:g.1918459C>T	TOPMed
rs745921448	p.Asp417Asn	missense variant	-	NC_000004.12:g.1918462G>A	ExAC,TOPMed,gnomAD
COSM3602825	p.Gly419Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1918468G>A	NCI-TCGA Cosmic
rs544842635	p.Gly419Glu	missense variant	-	NC_000004.12:g.1918469G>A	1000Genomes,ExAC,gnomAD
rs775476451	p.Lys420Glu	missense variant	-	NC_000004.12:g.1918471A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser421Gly	missense variant	-	NC_000004.12:g.1918474A>G	NCI-TCGA
rs1202036637	p.Ser421Arg	missense variant	-	NC_000004.12:g.1918474A>C	TOPMed,gnomAD
rs1027089911	p.Thr422Ile	missense variant	-	NC_000004.12:g.1918478C>T	TOPMed
rs1231087793	p.Pro423Leu	missense variant	-	NC_000004.12:g.1918481C>T	TOPMed,gnomAD
rs775406978	p.Pro423Ser	missense variant	-	NC_000004.12:g.1918480C>T	ExAC,TOPMed,gnomAD
rs200784805	p.Thr426Met	missense variant	-	NC_000004.12:g.1918490C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764880891	p.Glu428Asp	missense variant	-	NC_000004.12:g.1918497G>T	ExAC,TOPMed,gnomAD
rs1418109519	p.Ala429Asp	missense variant	-	NC_000004.12:g.1918499C>A	TOPMed
COSM1485903	p.Asp430Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1918502A>G	NCI-TCGA Cosmic
rs1217095015	p.Pro431Ser	missense variant	-	NC_000004.12:g.1918504C>T	TOPMed,gnomAD
rs757872063	p.Arg432Ser	missense variant	-	NC_000004.12:g.1918509A>C	ExAC,gnomAD
rs1449515277	p.Arg432Gly	missense variant	-	NC_000004.12:g.1918507A>G	gnomAD
COSM1137175	p.Gly434Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1918513G>C	NCI-TCGA Cosmic
rs765853067	p.Val435Ile	missense variant	-	NC_000004.12:g.1918516G>A	ExAC,gnomAD
rs769930210	p.Gly436Val	missense variant	-	NC_000004.12:g.1918520G>T	ExAC,gnomAD
rs769930210	p.Gly436Glu	missense variant	-	NC_000004.12:g.1918520G>A	ExAC,gnomAD
rs1478631765	p.Gly436Arg	missense variant	-	NC_000004.12:g.1918519G>A	gnomAD
rs533653843	p.Pro438Leu	missense variant	-	NC_000004.12:g.1918526C>T	gnomAD
NCI-TCGA novel	p.Pro439His	missense variant	-	NC_000004.12:g.1918529C>A	NCI-TCGA
rs1024984881	p.Pro439Ser	missense variant	-	NC_000004.12:g.1918528C>T	TOPMed,gnomAD
rs1024984881	p.Pro439Ala	missense variant	-	NC_000004.12:g.1918528C>G	TOPMed,gnomAD
rs1299204529	p.Pro439Leu	missense variant	-	NC_000004.12:g.1918529C>T	gnomAD
rs1258951493	p.Arg441Trp	missense variant	-	NC_000004.12:g.1918534A>T	TOPMed
rs778096764	p.Lys442Arg	missense variant	-	NC_000004.12:g.1918538A>G	ExAC,gnomAD
RCV000309220	p.Thr444Ala	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1918543A>G	ClinVar
rs1235550316	p.Thr444Asn	missense variant	-	NC_000004.12:g.1918544C>A	gnomAD
rs112014939	p.Thr444Ala	missense variant	-	NC_000004.12:g.1918543A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1306925576	p.Ser447Cys	missense variant	-	NC_000004.12:g.1918553C>G	TOPMed,gnomAD
rs1306925576	p.Ser447Tyr	missense variant	-	NC_000004.12:g.1918553C>A	TOPMed,gnomAD
rs1306925576	p.Ser447Phe	missense variant	-	NC_000004.12:g.1918553C>T	TOPMed,gnomAD
rs1220362986	p.Met448Ile	missense variant	-	NC_000004.12:g.1918557G>T	TOPMed
rs1352916117	p.Met448Val	missense variant	-	NC_000004.12:g.1918555A>G	gnomAD
rs757593548	p.Pro449Ser	missense variant	-	NC_000004.12:g.1918558C>T	ExAC,gnomAD
rs146822227	p.Arg450Gln	missense variant	-	NC_000004.12:g.1918562G>A	1000Genomes,ExAC
rs528156709	p.Ser451Asn	missense variant	-	NC_000004.12:g.1918565G>A	1000Genomes,ExAC,gnomAD
rs746127427	p.Ser451Gly	missense variant	-	NC_000004.12:g.1918564A>G	ExAC,gnomAD
rs775781891	p.Arg452Lys	missense variant	-	NC_000004.12:g.1918568G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg452Trp	missense variant	-	NC_000004.12:g.1918567A>T	NCI-TCGA
rs551480723	p.Asp455Gly	missense variant	-	NC_000004.12:g.1918577A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1173566157	p.Ala456Gly	missense variant	-	NC_000004.12:g.1918580C>G	gnomAD
rs1301786203	p.Ala456Pro	missense variant	-	NC_000004.12:g.1918579G>C	TOPMed
rs768660174	p.Gln459Arg	missense variant	-	NC_000004.12:g.1918589A>G	ExAC,gnomAD
rs776718972	p.Leu461Phe	missense variant	-	NC_000004.12:g.1918596G>T	ExAC,TOPMed,gnomAD
rs909812134	p.Val462Ile	missense variant	-	NC_000004.12:g.1918597G>A	TOPMed,gnomAD
rs1460113219	p.Phe463Cys	missense variant	-	NC_000004.12:g.1918601T>G	TOPMed
rs200573697	p.Gln465Arg	missense variant	-	NC_000004.12:g.1918607A>G	TOPMed,gnomAD
rs1365973299	p.His467Tyr	missense variant	-	NC_000004.12:g.1918612C>T	gnomAD
NCI-TCGA novel	p.Arg468Ser	missense variant	-	NC_000004.12:g.1918617G>T	NCI-TCGA
rs772894930	p.Asp469Asn	missense variant	-	NC_000004.12:g.1918618G>A	ExAC,TOPMed,gnomAD
rs762549754	p.Asp469Glu	missense variant	-	NC_000004.12:g.1918620T>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu470Asp	missense variant	-	NC_000004.12:g.1918623G>T	NCI-TCGA
rs1393187232	p.Glu470Lys	missense variant	-	NC_000004.12:g.1918621G>A	TOPMed
rs762295992	p.Val471Leu	missense variant	-	NC_000004.12:g.1930626G>T	ExAC,gnomAD
COSM1429090	p.Glu474Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1930637G>T	NCI-TCGA Cosmic
rs372548092	p.Pro476Ala	missense variant	-	NC_000004.12:g.1930641C>G	ESP,ExAC,TOPMed,gnomAD
rs372548092	p.Pro476Ser	missense variant	-	NC_000004.12:g.1930641C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp477Tyr	missense variant	-	NC_000004.12:g.1930644G>T	NCI-TCGA
NCI-TCGA novel	p.Ser479Leu	missense variant	-	NC_000004.12:g.1930651C>T	NCI-TCGA
rs750699195	p.Glu482Gly	missense variant	-	NC_000004.12:g.1930660A>G	ExAC,gnomAD
rs758798682	p.Ile483Thr	missense variant	-	NC_000004.12:g.1930663T>C	ExAC,gnomAD
rs780387498	p.Ile483Met	missense variant	-	NC_000004.12:g.1930664T>G	ExAC,TOPMed,gnomAD
rs1465546689	p.Glu485Ter	stop gained	-	NC_000004.12:g.1930668G>T	gnomAD
rs1303202014	p.Glu485Val	missense variant	-	NC_000004.12:g.1930669A>T	gnomAD
rs536667286	p.Glu485Asp	missense variant	-	NC_000004.12:g.1930670G>C	1000Genomes,ExAC,gnomAD
rs1424170850	p.Ser495Asn	missense variant	-	NC_000004.12:g.1930699G>A	TOPMed
rs781458614	p.Ala500Thr	missense variant	-	NC_000004.12:g.1930713G>A	ExAC,TOPMed,gnomAD
COSM4123995	p.Arg501Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1930716C>T	NCI-TCGA Cosmic
COSM1054431	p.Arg501His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1930717G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu508Val	missense variant	-	NC_000004.12:g.1930737C>G	NCI-TCGA
rs748110450	p.Val509Leu	missense variant	-	NC_000004.12:g.1930740G>C	ExAC,gnomAD
rs769675903	p.Ala510Val	missense variant	-	NC_000004.12:g.1930744C>T	ExAC,gnomAD
rs1256922030	p.Ala510Pro	missense variant	-	NC_000004.12:g.1930743G>C	gnomAD
rs777777950	p.Val512Leu	missense variant	-	NC_000004.12:g.1930749G>C	ExAC,gnomAD
rs1262675030	p.Ala514Thr	missense variant	-	NC_000004.12:g.1930755G>A	gnomAD
rs1028583535	p.Ala514Gly	missense variant	-	NC_000004.12:g.1930756C>G	TOPMed,gnomAD
rs1188354432	p.Glu515Lys	missense variant	-	NC_000004.12:g.1930758G>A	gnomAD
rs748968237	p.Glu516Asp	missense variant	-	NC_000004.12:g.1930763A>C	ExAC,gnomAD
rs768231623	p.Gly519Ala	missense variant	-	NC_000004.12:g.1935144G>C	ExAC
rs763599385	p.Val521Gly	missense variant	-	NC_000004.12:g.1935150T>G	ExAC,gnomAD
rs184269531	p.Val521Leu	missense variant	-	NC_000004.12:g.1935149G>C	1000Genomes,ExAC,gnomAD
rs184269531	p.Val521Ile	missense variant	-	NC_000004.12:g.1935149G>A	1000Genomes,ExAC,gnomAD
rs766849084	p.Asn522Ser	missense variant	-	NC_000004.12:g.1935153A>G	ExAC,TOPMed,gnomAD
rs1373823679	p.Gly523Glu	missense variant	-	NC_000004.12:g.1935156G>A	gnomAD
rs1373823679	p.Gly523Glu	missense variant	-	NC_000004.12:g.1935156G>A	NCI-TCGA
rs1404880935	p.Lys524Arg	missense variant	-	NC_000004.12:g.1935159A>G	TOPMed
RCV000736075	p.Lys524Ter	frameshift	Wolf-Hirschhorn like syndrome	NC_000004.12:g.1935157dup	ClinVar
COSM1309966	p.Lys525Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1935162A>G	NCI-TCGA Cosmic
rs376083183	p.Lys525Glu	missense variant	-	NC_000004.12:g.1935161A>G	ESP,ExAC,gnomAD
COSM1054432	p.Arg526Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1935165G>T	NCI-TCGA Cosmic
rs767569743	p.Arg526Gly	missense variant	-	NC_000004.12:g.1935164A>G	ExAC,gnomAD
rs1158851983	p.Arg526Lys	missense variant	-	NC_000004.12:g.1935165G>A	TOPMed
RCV000269277	p.His528Gln	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1935172C>A	ClinVar
RCV000366205	p.His528Asn	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1935170C>A	ClinVar
rs139753036	p.His528Asn	missense variant	-	NC_000004.12:g.1935170C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149810908	p.His528Gln	missense variant	-	NC_000004.12:g.1935172C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1439655332	p.Thr529Ile	missense variant	-	NC_000004.12:g.1935174C>T	TOPMed
rs145704598	p.Thr529Pro	missense variant	-	NC_000004.12:g.1935173A>C	ESP,ExAC,TOPMed,gnomAD
rs140468997	p.Arg531Thr	missense variant	-	NC_000004.12:g.1935180G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000657550	p.Ile532Ter	frameshift	-	NC_000004.12:g.1935176_1935177dup	ClinVar
rs758217696	p.Thr536Ile	missense variant	-	NC_000004.12:g.1935195C>T	ExAC,gnomAD
rs201639781	p.Asp538Val	missense variant	-	NC_000004.12:g.1935201A>T	1000Genomes,TOPMed
rs746720577	p.Ala539Thr	missense variant	-	NC_000004.12:g.1935203G>A	ExAC,TOPMed,gnomAD
rs768024031	p.Glu540Lys	missense variant	-	NC_000004.12:g.1935206G>A	ExAC
rs1405664178	p.Ala541Val	missense variant	-	NC_000004.12:g.1935210C>T	gnomAD
COSM1054433	p.Asp543Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1935215G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp543Val	missense variant	-	NC_000004.12:g.1935216A>T	NCI-TCGA
rs776275446	p.Thr544Ala	missense variant	-	NC_000004.12:g.1935218A>G	ExAC,gnomAD
rs749802617	p.Pro545Ser	missense variant	-	NC_000004.12:g.1935221C>T	ExAC,gnomAD
rs771509829	p.Pro545Leu	missense variant	-	NC_000004.12:g.1935222C>T	ExAC,gnomAD
rs775004764	p.Arg546Lys	missense variant	-	NC_000004.12:g.1935225G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg548Ile	missense variant	-	NC_000004.12:g.1935231G>T	NCI-TCGA
rs146509878	p.Thr551Met	missense variant	-	NC_000004.12:g.1935240C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761024107	p.Lys553Arg	missense variant	-	NC_000004.12:g.1935246A>G	ExAC,gnomAD
rs1273557385	p.His554Gln	missense variant	-	NC_000004.12:g.1935250C>G	TOPMed,gnomAD
rs1439497500	p.Ser555Gly	missense variant	-	NC_000004.12:g.1935251A>G	gnomAD
rs950240383	p.Leu556Val	missense variant	-	NC_000004.12:g.1935254C>G	TOPMed,gnomAD
rs1207755212	p.Arg557Trp	missense variant	-	NC_000004.12:g.1935257C>T	TOPMed,gnomAD
rs1434444449	p.Asp560Glu	missense variant	-	NC_000004.12:g.1938456C>G	gnomAD
rs1274132193	p.Ile562Val	missense variant	-	NC_000004.12:g.1938460A>G	gnomAD
rs1370534690	p.Ile562Ser	missense variant	-	NC_000004.12:g.1938461T>G	TOPMed
rs1323423253	p.Asp564Glu	missense variant	-	NC_000004.12:g.1938468C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Lys565Thr	missense variant	-	NC_000004.12:g.1938470A>C	NCI-TCGA
NCI-TCGA novel	p.Thr566Met	missense variant	-	NC_000004.12:g.1938473C>T	NCI-TCGA
NCI-TCGA novel	p.Ala567Thr	missense variant	-	NC_000004.12:g.1938475G>A	NCI-TCGA
rs967022469	p.Thr569Arg	missense variant	-	NC_000004.12:g.1938482C>G	TOPMed
rs1244974581	p.Ser570Ile	missense variant	-	NC_000004.12:g.1938485G>T	gnomAD
rs763018932	p.Ser571Cys	missense variant	-	NC_000004.12:g.1938488C>G	ExAC,gnomAD
rs763018932	p.Ser571Phe	missense variant	-	NC_000004.12:g.1938488C>T	ExAC,gnomAD
rs1352496907	p.Tyr572Ser	missense variant	-	NC_000004.12:g.1938491A>C	gnomAD
rs538038976	p.Lys573Glu	missense variant	-	NC_000004.12:g.1938493A>G	1000Genomes,ExAC,gnomAD
rs751314482	p.Lys573Thr	missense variant	-	NC_000004.12:g.1938494A>C	ExAC,gnomAD
rs780953841	p.Ala574Thr	missense variant	-	NC_000004.12:g.1938496G>A	ExAC,gnomAD
rs1195882701	p.Ala577Thr	missense variant	-	NC_000004.12:g.1938505G>A	gnomAD
rs140182983	p.Ala578Gly	missense variant	-	NC_000004.12:g.1938509C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140182983	p.Ala578Val	missense variant	-	NC_000004.12:g.1938509C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746362705	p.Ser580Leu	missense variant	-	NC_000004.12:g.1938515C>T	ExAC,gnomAD
rs1371619664	p.Ala585Thr	missense variant	-	NC_000004.12:g.1938529G>A	gnomAD
rs1390587603	p.Ala586Val	missense variant	-	NC_000004.12:g.1939654C>T	TOPMed
rs763851539	p.Thr587Arg	missense variant	-	NC_000004.12:g.1939657C>G	ExAC,TOPMed,gnomAD
rs763851539	p.Thr587Met	missense variant	-	NC_000004.12:g.1939657C>T	ExAC,TOPMed,gnomAD
rs539819179	p.Leu590Arg	missense variant	-	NC_000004.12:g.1939666T>G	1000Genomes,ExAC,gnomAD
rs570695212	p.Leu590Met	missense variant	-	NC_000004.12:g.1939665C>A	1000Genomes,ExAC,gnomAD
COSM1485905	p.Ala593Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1939674G>A	NCI-TCGA Cosmic
rs1171689736	p.Lys599Thr	missense variant	-	NC_000004.12:g.1939693A>C	gnomAD
rs1189008609	p.Arg600Gln	missense variant	-	NC_000004.12:g.1939696G>A	TOPMed
COSM1054434	p.Arg602Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1939701C>T	NCI-TCGA Cosmic
rs1418871757	p.Arg602Gln	missense variant	-	NC_000004.12:g.1939702G>A	gnomAD
rs748360474	p.Ala603Gly	missense variant	-	NC_000004.12:g.1939705C>G	ExAC,gnomAD
rs1213997018	p.Thr605Met	missense variant	-	NC_000004.12:g.1939711C>T	-
rs769950208	p.Thr605Ala	missense variant	-	NC_000004.12:g.1939710A>G	ExAC,gnomAD
rs1030558419	p.Ala606Glu	missense variant	-	NC_000004.12:g.1939714C>A	TOPMed,gnomAD
rs1030558419	p.Ala606Val	missense variant	-	NC_000004.12:g.1939714C>T	TOPMed,gnomAD
rs1299648042	p.Ala606Thr	missense variant	-	NC_000004.12:g.1939713G>A	gnomAD
rs1413976698	p.Ala607Val	missense variant	-	NC_000004.12:g.1939717C>T	gnomAD
rs767653275	p.Ser614Asn	missense variant	-	NC_000004.12:g.1939738G>A	gnomAD
rs770938820	p.Lys615Asn	missense variant	-	NC_000004.12:g.1939742A>C	ExAC,TOPMed,gnomAD
rs774325375	p.Ser618Cys	missense variant	-	NC_000004.12:g.1939750C>G	ExAC,TOPMed,gnomAD
rs759432670	p.Ser620Ala	missense variant	-	NC_000004.12:g.1939755T>G	ExAC,gnomAD
rs1253622631	p.Thr624Pro	missense variant	-	NC_000004.12:g.1939767A>C	gnomAD
NCI-TCGA novel	p.Glu627Asp	missense variant	-	NC_000004.12:g.1939778G>T	NCI-TCGA
rs764506321	p.Ser629Pro	missense variant	-	NC_000004.12:g.1951075T>C	ExAC,TOPMed,gnomAD
rs144714547	p.Ser629Leu	missense variant	-	NC_000004.12:g.1951076C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778951564	p.Asp630Glu	missense variant	-	NC_000004.12:g.1951080C>G	ExAC
rs750722330	p.Pro632Leu	missense variant	-	NC_000004.12:g.1951085C>T	ExAC,TOPMed,gnomAD
rs780346425	p.Asp634Asn	missense variant	-	NC_000004.12:g.1951090G>A	ExAC,gnomAD
rs150312094	p.Pro636Arg	missense variant	-	NC_000004.12:g.1951097C>G	ESP,ExAC,TOPMed,gnomAD
rs201252361	p.Ser637Leu	missense variant	-	NC_000004.12:g.1951100C>T	ExAC,TOPMed,gnomAD
rs781198289	p.Ser637Ala	missense variant	-	NC_000004.12:g.1951099T>G	ExAC,TOPMed,gnomAD
rs781198289	p.Ser637Pro	missense variant	-	NC_000004.12:g.1951099T>C	ExAC,TOPMed,gnomAD
rs1482224235	p.Ser639Cys	missense variant	-	NC_000004.12:g.1951106C>G	TOPMed
rs748981823	p.Pro640Leu	missense variant	-	NC_000004.12:g.1951109C>T	ExAC,gnomAD
COSM1054435	p.Tyr641Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1951112A>G	NCI-TCGA Cosmic
rs770425230	p.Tyr641His	missense variant	-	NC_000004.12:g.1951111T>C	ExAC,TOPMed,gnomAD
COSM278138	p.Glu642Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1951114G>A	NCI-TCGA Cosmic
rs759061394	p.Glu642Val	missense variant	-	NC_000004.12:g.1951115A>T	ExAC,gnomAD
rs759061394	p.Glu642Gly	missense variant	-	NC_000004.12:g.1951115A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu646Lys	missense variant	-	NC_000004.12:g.1951126G>A	NCI-TCGA
rs1383119383	p.Val651Leu	missense variant	-	NC_000004.12:g.1951141G>C	TOPMed
rs1328580847	p.Val651Ala	missense variant	-	NC_000004.12:g.1951142T>C	gnomAD
rs1398214715	p.Glu659Gly	missense variant	-	NC_000004.12:g.1951166A>G	TOPMed
rs1355063646	p.Arg660Gln	missense variant	-	NC_000004.12:g.1951169G>A	gnomAD
rs758747210	p.Gly661Val	missense variant	-	NC_000004.12:g.1951172G>T	ExAC,gnomAD
rs1400681386	p.Val662Ala	missense variant	-	NC_000004.12:g.1951175T>C	TOPMed
rs766717444	p.Ala664Val	missense variant	-	NC_000004.12:g.1951181C>T	ExAC,gnomAD
rs143388708	p.Lys665Arg	missense variant	-	NC_000004.12:g.1951184A>G	ESP,ExAC,TOPMed,gnomAD
rs1308986047	p.Tyr668Cys	missense variant	-	NC_000004.12:g.1951193A>G	TOPMed,gnomAD
rs1362563185	p.Val669Met	missense variant	-	NC_000004.12:g.1951195G>A	TOPMed
rs1448727938	p.Leu672Val	missense variant	-	NC_000004.12:g.1952108C>G	TOPMed
rs943227424	p.Pro676Ser	missense variant	-	NC_000004.12:g.1952120C>T	-
rs773890550	p.Pro676Leu	missense variant	-	NC_000004.12:g.1952121C>T	ExAC,TOPMed,gnomAD
rs1277336806	p.Ser678Asn	missense variant	-	NC_000004.12:g.1952127G>A	gnomAD
rs1349584955	p.Leu679Phe	missense variant	-	NC_000004.12:g.1952129C>T	gnomAD
rs774410104	p.Leu680Pro	missense variant	-	NC_000004.12:g.1952133T>C	ExAC,gnomAD
NCI-TCGA novel	p.Cys686Tyr	missense variant	-	NC_000004.12:g.1952151G>A	NCI-TCGA
rs760749890	p.Ala693Thr	missense variant	-	NC_000004.12:g.1952171G>A	ExAC,TOPMed,gnomAD
rs763969166	p.Arg699Trp	missense variant	-	NC_000004.12:g.1952189C>T	ExAC,TOPMed,gnomAD
rs757015702	p.Gly703Arg	missense variant	-	NC_000004.12:g.1952201G>A	ExAC,gnomAD
rs1390978369	p.Gly703Val	missense variant	-	NC_000004.12:g.1952202G>T	gnomAD
rs369991547	p.Glu709Lys	missense variant	-	NC_000004.12:g.1952219G>A	ESP,ExAC,TOPMed,gnomAD
rs1302175161	p.Ile714Asn	missense variant	-	NC_000004.12:g.1953327T>A	gnomAD
NCI-TCGA novel	p.His715Gln	missense variant	-	NC_000004.12:g.1953331C>G	NCI-TCGA
NCI-TCGA novel	p.His715Leu	missense variant	-	NC_000004.12:g.1953330A>T	NCI-TCGA
rs748174351	p.Ser716Pro	missense variant	-	NC_000004.12:g.1953332T>C	ExAC,gnomAD
NCI-TCGA novel	p.Val719Met	missense variant	-	NC_000004.12:g.1953341G>A	NCI-TCGA
rs200415868	p.Val719Leu	missense variant	-	NC_000004.12:g.1953341G>C	1000Genomes
COSM5551337	p.Cys720Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1953345G>A	NCI-TCGA Cosmic
rs762870190	p.Ser723Arg	missense variant	-	NC_000004.12:g.1953355C>G	ExAC,TOPMed,gnomAD
rs1251092560	p.Thr725Ala	missense variant	-	NC_000004.12:g.1953359A>G	TOPMed,gnomAD
rs1201830073	p.Thr725Ile	missense variant	-	NC_000004.12:g.1953360C>T	TOPMed
rs766187206	p.Val727Leu	missense variant	-	NC_000004.12:g.1953365G>C	ExAC,gnomAD
COSM3714781	p.Arg729Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1953371C>T	NCI-TCGA Cosmic
rs1194038054	p.Arg729Gly	missense variant	-	NC_000004.12:g.1953371C>G	gnomAD
NCI-TCGA novel	p.Cys730Arg	missense variant	-	NC_000004.12:g.1953374T>C	NCI-TCGA
rs927209802	p.Val731Ala	missense variant	-	NC_000004.12:g.1953378T>C	TOPMed
rs370713472	p.Val731Met	missense variant	-	NC_000004.12:g.1953377G>A	ESP,ExAC,gnomAD
rs1280676418	p.Thr733Pro	missense variant	-	NC_000004.12:g.1953383A>C	TOPMed
rs1235457134	p.Gln734Lys	missense variant	-	NC_000004.12:g.1953386C>A	TOPMed
rs1157710629	p.Glu741Val	missense variant	-	NC_000004.12:g.1953408A>T	gnomAD
rs767239709	p.Ala742Ser	missense variant	-	NC_000004.12:g.1953410G>T	ExAC,gnomAD
rs1458389813	p.Ala742Gly	missense variant	-	NC_000004.12:g.1953411C>G	gnomAD
COSM1429101	p.Lys746AsnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.1953419A>-	NCI-TCGA Cosmic
rs755618120	p.Lys746Ile	missense variant	-	NC_000004.12:g.1953423A>T	ExAC,gnomAD
rs1440615250	p.Tyr747Phe	missense variant	-	NC_000004.12:g.1953426A>T	gnomAD
rs750927886	p.Phe752Ser	missense variant	-	NC_000004.12:g.1953441T>C	ExAC,TOPMed,gnomAD
rs763576743	p.Phe752Leu	missense variant	-	NC_000004.12:g.1953440T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu753Gln	missense variant	-	NC_000004.12:g.1953443G>C	NCI-TCGA
rs1306585669	p.Ser754Arg	missense variant	-	NC_000004.12:g.1953448C>G	gnomAD
COSM1054436	p.Arg755Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1953450G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly756Cys	missense variant	-	NC_000004.12:g.1953452G>T	NCI-TCGA
rs1329886619	p.Arg758Ser	missense variant	-	NC_000004.12:g.1953458C>A	gnomAD
rs952088696	p.Pro760Ala	missense variant	-	NC_000004.12:g.1953464C>G	TOPMed
NCI-TCGA novel	p.Leu761Phe	missense variant	-	NC_000004.12:g.1953467C>T	NCI-TCGA
NCI-TCGA novel	p.Leu761ProPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.1953462_1953463insC	NCI-TCGA
rs1222020519	p.Ser766Asn	missense variant	-	NC_000004.12:g.1953483G>A	gnomAD
rs1222020519	p.Ser766Thr	missense variant	-	NC_000004.12:g.1953483G>C	gnomAD
rs991357362	p.Ala769Thr	missense variant	-	NC_000004.12:g.1953491G>A	TOPMed
rs781367586	p.Pro772Ser	missense variant	-	NC_000004.12:g.1953500C>T	ExAC,gnomAD
rs748411778	p.Asn774Tyr	missense variant	-	NC_000004.12:g.1953506A>T	ExAC,gnomAD
rs540859268	p.Pro775Thr	missense variant	-	NC_000004.12:g.1953509C>A	gnomAD
rs540859268	p.Pro775Ser	missense variant	-	NC_000004.12:g.1953509C>T	gnomAD
rs562252470	p.Pro777Ser	missense variant	-	NC_000004.12:g.1953515C>T	ExAC,TOPMed,gnomAD
rs562252470	p.Pro777Ala	missense variant	-	NC_000004.12:g.1953515C>G	ExAC,TOPMed,gnomAD
rs1192456885	p.Pro777Leu	missense variant	-	NC_000004.12:g.1953516C>T	TOPMed
NCI-TCGA novel	p.Ser778Ter	stop gained	-	NC_000004.12:g.1953519C>G	NCI-TCGA
rs374024971	p.Ser778Leu	missense variant	-	NC_000004.12:g.1953519C>T	ESP,ExAC,TOPMed,gnomAD
rs1239708011	p.Arg784Gln	missense variant	-	NC_000004.12:g.1955173G>A	gnomAD
rs548145434	p.Val786Ile	missense variant	-	NC_000004.12:g.1955178G>A	1000Genomes,ExAC,gnomAD
rs761204359	p.Val790Ile	missense variant	-	NC_000004.12:g.1955190G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr792Cys	missense variant	-	NC_000004.12:g.1955197A>G	NCI-TCGA
rs752059206	p.Tyr792Phe	missense variant	-	NC_000004.12:g.1955197A>T	ExAC,gnomAD
NCI-TCGA novel	p.His793Arg	missense variant	-	NC_000004.12:g.1955200A>G	NCI-TCGA
rs760095870	p.Ser794Gly	missense variant	-	NC_000004.12:g.1955202A>G	ExAC,TOPMed,gnomAD
rs1190376594	p.Gly795Arg	missense variant	-	NC_000004.12:g.1955205G>A	TOPMed
NCI-TCGA novel	p.Ala797Val	missense variant	-	NC_000004.12:g.1955212C>T	NCI-TCGA
rs144335923	p.Val805Ala	missense variant	-	NC_000004.12:g.1955236T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000261891	p.Val805Ala	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1955236T>C	ClinVar
rs143360610	p.Ala807Thr	missense variant	-	NC_000004.12:g.1955241G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser808Phe	missense variant	-	NC_000004.12:g.1955245C>T	NCI-TCGA
rs757383616	p.Ser808Cys	missense variant	-	NC_000004.12:g.1955245C>G	ExAC,TOPMed,gnomAD
rs1220682081	p.Asn809Ser	missense variant	-	NC_000004.12:g.1955248A>G	TOPMed
rs1445749183	p.Ile812Val	missense variant	-	NC_000004.12:g.1955256A>G	gnomAD
rs779189829	p.Thr818Ala	missense variant	-	NC_000004.12:g.1955274A>G	ExAC,gnomAD
rs758343111	p.Arg820Gln	missense variant	-	NC_000004.12:g.1955281G>A	ExAC,TOPMed,gnomAD
rs745957331	p.Arg820Trp	missense variant	-	NC_000004.12:g.1955280C>T	ExAC,TOPMed,gnomAD
rs980280785	p.Lys821Gln	missense variant	-	NC_000004.12:g.1955283A>C	TOPMed
rs1435819330	p.Lys823Arg	missense variant	-	NC_000004.12:g.1955290A>G	gnomAD
COSM3775757	p.His825Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1955296A>C	NCI-TCGA Cosmic
rs748922675	p.His825Gln	missense variant	-	NC_000004.12:g.1955297C>G	ExAC,TOPMed,gnomAD
rs1478502518	p.His826Leu	missense variant	-	NC_000004.12:g.1955299A>T	gnomAD
rs747861024	p.Ala827Val	missense variant	-	NC_000004.12:g.1955302C>T	ExAC,gnomAD
rs776114283	p.Ala827Thr	missense variant	-	NC_000004.12:g.1955301G>A	ExAC,TOPMed,gnomAD
rs146318719	p.Val829Ile	missense variant	-	NC_000004.12:g.1955307G>A	ESP,ExAC,gnomAD
COSM5060295	p.Val831Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1955313G>A	NCI-TCGA Cosmic
rs1170253779	p.Ser832Asn	missense variant	-	NC_000004.12:g.1955317G>A	TOPMed
rs139637100	p.Val836Met	missense variant	-	NC_000004.12:g.1955328G>A	ESP,ExAC,TOPMed,gnomAD
rs139637100	p.Val836Leu	missense variant	-	NC_000004.12:g.1955328G>T	ESP,ExAC,TOPMed,gnomAD
rs757494380	p.Lys839Glu	missense variant	-	NC_000004.12:g.1955337A>G	ExAC,gnomAD
rs1337213459	p.Ile860Phe	missense variant	-	NC_000004.12:g.1955752A>T	TOPMed,gnomAD
rs1309496969	p.Glu861Gly	missense variant	-	NC_000004.12:g.1955756A>G	gnomAD
rs1422388271	p.Glu861Lys	missense variant	-	NC_000004.12:g.1955755G>A	TOPMed
rs1352976948	p.Met862Thr	missense variant	-	NC_000004.12:g.1955759T>C	TOPMed,gnomAD
rs748981703	p.Asp864Asn	missense variant	-	NC_000004.12:g.1955764G>A	ExAC,gnomAD
COSM6100212	p.Gly865Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1955767G>T	NCI-TCGA Cosmic
rs1281027436	p.Gly865Ser	missense variant	-	NC_000004.12:g.1955767G>A	gnomAD
rs377249050	p.Ser866Ile	missense variant	-	NC_000004.12:g.1955771G>T	ESP,ExAC,gnomAD
rs1553876452	p.Cys869Arg	missense variant	-	NC_000004.12:g.1955779T>C	-
RCV000622646	p.Cys869Arg	missense variant	Inborn genetic diseases	NC_000004.12:g.1955779T>C	ClinVar
rs1268825335	p.Asn870Ser	missense variant	-	NC_000004.12:g.1955783A>G	gnomAD
NCI-TCGA novel	p.Cys872Tyr	missense variant	-	NC_000004.12:g.1955789G>A	NCI-TCGA
rs1341691783	p.Arg873Lys	missense variant	-	NC_000004.12:g.1955792G>A	gnomAD
rs1485302063	p.His879Arg	missense variant	-	NC_000004.12:g.1955810A>G	gnomAD
rs777295950	p.Phe880Tyr	missense variant	-	NC_000004.12:g.1955813T>A	ExAC,gnomAD
rs1484701021	p.Phe880Leu	missense variant	-	NC_000004.12:g.1955814C>G	gnomAD
rs762245596	p.Ile883Thr	missense variant	-	NC_000004.12:g.1955822T>C	ExAC,gnomAD
rs369572952	p.Ile884Val	missense variant	-	NC_000004.12:g.1955824A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1309968	p.Tyr891Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1955846A>G	NCI-TCGA Cosmic
COSM4927047	p.His900Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1956006A>G	NCI-TCGA Cosmic
rs145631870	p.Pro906Leu	missense variant	-	NC_000004.12:g.1956024C>T	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Asn907Asp	missense variant	-	NC_000004.12:g.1956026A>G	NCI-TCGA
rs1432275472	p.Ile915Val	missense variant	-	NC_000004.12:g.1956050A>G	gnomAD
COSM1054441	p.Glu917Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.1956056G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro919Ser	missense variant	-	NC_000004.12:g.1956062C>T	NCI-TCGA
NCI-TCGA novel	p.Phe922Cys	missense variant	-	NC_000004.12:g.1956072T>G	NCI-TCGA
rs1257240726	p.Lys926Gln	missense variant	-	NC_000004.12:g.1956083A>C	TOPMed
rs767627490	p.Thr931Met	missense variant	-	NC_000004.12:g.1956099C>T	ExAC,TOPMed,gnomAD
rs760665991	p.His932Tyr	missense variant	-	NC_000004.12:g.1956101C>T	ExAC,gnomAD
rs1388626156	p.Ala934Val	missense variant	-	NC_000004.12:g.1956108C>T	gnomAD
COSM4124005	p.Arg935Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000004.12:g.1956110C>T	NCI-TCGA Cosmic
COSM3602827	p.Pro938Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1956119C>T	NCI-TCGA Cosmic
rs200311175	p.Pro938Leu	missense variant	-	NC_000004.12:g.1956120C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764917391	p.Met940Arg	missense variant	-	NC_000004.12:g.1956126T>G	ExAC,gnomAD
rs1313958361	p.Met940Val	missense variant	-	NC_000004.12:g.1956125A>G	TOPMed,gnomAD
rs750083545	p.Glu941Gly	missense variant	-	NC_000004.12:g.1956129A>G	ExAC
rs1329849826	p.Glu941Asp	missense variant	-	NC_000004.12:g.1956130G>T	TOPMed,gnomAD
COSM3917612	p.Gly942Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1956131G>A	NCI-TCGA Cosmic
COSM4915142	p.Gly942Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1956131G>T	NCI-TCGA Cosmic
rs757920884	p.Asp943Ala	missense variant	-	NC_000004.12:g.1956135A>C	ExAC,gnomAD
rs757920884	p.Asp943Gly	missense variant	-	NC_000004.12:g.1956135A>G	ExAC,gnomAD
rs746529986	p.Arg944Gly	missense variant	-	NC_000004.12:g.1956137C>G	ExAC,gnomAD
RCV000371835	p.Arg944Gln	missense variant	4p partial monosomy syndrome (WHS)	NC_000004.12:g.1956138G>A	ClinVar
rs756624618	p.Arg944Gln	missense variant	-	NC_000004.12:g.1956138G>A	ExAC,TOPMed,gnomAD
rs756624618	p.Arg944Leu	missense variant	-	NC_000004.12:g.1956138G>T	ExAC,TOPMed,gnomAD
rs749617066	p.Gly945Arg	missense variant	-	NC_000004.12:g.1956140G>C	ExAC,gnomAD
rs771249310	p.Gly945Ala	missense variant	-	NC_000004.12:g.1956141G>C	ExAC
rs1157864395	p.Arg947His	missense variant	-	NC_000004.12:g.1956147G>A	gnomAD
rs943974282	p.Arg947Cys	missense variant	-	NC_000004.12:g.1956146C>T	gnomAD
rs1428724943	p.Gly950Arg	missense variant	-	NC_000004.12:g.1956155G>C	TOPMed
rs1411838742	p.Gly950Ala	missense variant	-	NC_000004.12:g.1956156G>C	gnomAD
rs934745655	p.Gly955Arg	missense variant	-	NC_000004.12:g.1956170G>A	gnomAD
rs772127940	p.Lys959Arg	missense variant	-	NC_000004.12:g.1956183A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn960His	missense variant	-	NC_000004.12:g.1956185A>C	NCI-TCGA
NCI-TCGA novel	p.Ala961Ser	missense variant	-	NC_000004.12:g.1956188G>T	NCI-TCGA
rs137974842	p.Gln963His	missense variant	-	NC_000004.12:g.1957940A>T	ESP,TOPMed,gnomAD
rs779205776	p.Ala965Thr	missense variant	-	NC_000004.12:g.1957944G>A	ExAC,TOPMed,gnomAD
rs746260679	p.Ala967Thr	missense variant	-	NC_000004.12:g.1957950G>A	ExAC,gnomAD
RCV000623054	p.Arg968His	missense variant	Inborn genetic diseases	NC_000004.12:g.1957954G>A	ClinVar
rs1553876858	p.Arg968His	missense variant	-	NC_000004.12:g.1957954G>A	-
rs780274468	p.Arg970His	missense variant	-	NC_000004.12:g.1957960G>A	ExAC,TOPMed,gnomAD
rs772239992	p.Arg970Cys	missense variant	-	NC_000004.12:g.1957959C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg976Met	missense variant	-	NC_000004.12:g.1957978G>T	NCI-TCGA
NCI-TCGA novel	p.Glu977Lys	missense variant	-	NC_000004.12:g.1957980G>A	NCI-TCGA
NCI-TCGA novel	p.Glu977Gly	missense variant	-	NC_000004.12:g.1957981A>G	NCI-TCGA
rs548600548	p.Arg979Ter	stop gained	-	NC_000004.12:g.1957986C>T	1000Genomes,ExAC,gnomAD
rs1472780335	p.Gln982Glu	missense variant	-	NC_000004.12:g.1957995C>G	gnomAD
rs1416347752	p.Glu985Lys	missense variant	-	NC_000004.12:g.1958004G>A	gnomAD
COSM3132336	p.Arg986His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1958008G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro989Ser	missense variant	-	NC_000004.12:g.1958016C>T	NCI-TCGA
NCI-TCGA novel	p.Pro989HisPheSerTerUnk	frameshift	-	NC_000004.12:g.1958013C>-	NCI-TCGA
rs1286095958	p.Pro989Leu	missense variant	-	NC_000004.12:g.1958017C>T	TOPMed
NCI-TCGA novel	p.Ile994Met	missense variant	-	NC_000004.12:g.1958033C>G	NCI-TCGA
rs1309075149	p.Lys998Glu	missense variant	-	NC_000004.12:g.1959477A>G	gnomAD
NCI-TCGA novel	p.Pro999Ser	missense variant	-	NC_000004.12:g.1959480C>T	NCI-TCGA
rs1291181242	p.Tyr1000His	missense variant	-	NC_000004.12:g.1959483T>C	TOPMed
NCI-TCGA novel	p.Val1003AlaPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.1959492_1959493insC	NCI-TCGA
rs1344700826	p.Gln1004Glu	missense variant	-	NC_000004.12:g.1959495C>G	TOPMed
rs1018801461	p.Ile1005Leu	missense variant	-	NC_000004.12:g.1959498A>C	TOPMed
rs142100377	p.Tyr1006His	missense variant	-	NC_000004.12:g.1959501T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1007Ala	missense variant	-	NC_000004.12:g.1959504A>G	NCI-TCGA
rs758754683	p.Ala1008Gly	missense variant	-	NC_000004.12:g.1959508C>G	ExAC,gnomAD
rs758754683	p.Ala1008Val	missense variant	-	NC_000004.12:g.1959508C>T	ExAC,gnomAD
COSM5975082	p.Ser1011Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1959517C>T	NCI-TCGA Cosmic
rs972287878	p.Pro1014Ala	missense variant	-	NC_000004.12:g.1959525C>G	TOPMed
NCI-TCGA novel	p.Cys1018Gly	missense variant	-	NC_000004.12:g.1959537T>G	NCI-TCGA
rs1272076193	p.Thr1021Ala	missense variant	-	NC_000004.12:g.1959546A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp1029Ter	frameshift	-	NC_000004.12:g.1959568_1959569insC	NCI-TCGA
rs1409623677	p.Ser1030Ala	missense variant	-	NC_000004.12:g.1959573T>G	gnomAD
NCI-TCGA novel	p.Glu1031Gln	missense variant	-	NC_000004.12:g.1959576G>C	NCI-TCGA
rs1322396712	p.Pro1043Ala	missense variant	-	NC_000004.12:g.1959612C>G	gnomAD
rs745664737	p.Ala1048Val	missense variant	-	NC_000004.12:g.1959628C>T	ExAC,gnomAD
rs774234132	p.Ala1048Thr	missense variant	-	NC_000004.12:g.1959627G>A	ExAC,gnomAD
rs1047838051	p.Glu1050Lys	missense variant	-	NC_000004.12:g.1959633G>A	TOPMed,gnomAD
rs1213391191	p.Phe1051Tyr	missense variant	-	NC_000004.12:g.1959637T>A	TOPMed
rs763723156	p.Gln1061Arg	missense variant	-	NC_000004.12:g.1959667A>G	ExAC,TOPMed,gnomAD
COSM1054443	p.Glu1064Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1959677G>T	NCI-TCGA Cosmic
rs773691968	p.Lys1066Arg	missense variant	-	NC_000004.12:g.1959682A>G	ExAC,gnomAD
rs1420145115	p.Ile1068Thr	missense variant	-	NC_000004.12:g.1959688T>C	TOPMed,gnomAD
rs771867435	p.Ala1079Thr	missense variant	-	NC_000004.12:g.1959720G>A	ExAC,gnomAD
rs1374595557	p.Ala1079Gly	missense variant	-	NC_000004.12:g.1959721C>G	TOPMed
rs1162500705	p.Lys1080Arg	missense variant	-	NC_000004.12:g.1959724A>G	gnomAD
rs756144891	p.Arg1081Ser	missense variant	-	NC_000004.12:g.1959728G>T	ExAC,gnomAD
rs924346177	p.Arg1084Thr	missense variant	-	NC_000004.12:g.1959736G>C	TOPMed
rs778057489	p.Lys1085Asn	missense variant	-	NC_000004.12:g.1959740G>T	ExAC,gnomAD
rs1256794829	p.Glu1087Val	missense variant	-	NC_000004.12:g.1961039A>T	gnomAD
rs1440755101	p.Val1093Ile	missense variant	-	NC_000004.12:g.1961056G>A	TOPMed
rs1255636324	p.Asp1098Asn	missense variant	-	NC_000004.12:g.1961071G>A	TOPMed
rs772470710	p.Glu1099Lys	missense variant	-	NC_000004.12:g.1961074G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala1104Val	missense variant	-	NC_000004.12:g.1961090C>T	NCI-TCGA
NCI-TCGA novel	p.Ile1106Met	missense variant	-	NC_000004.12:g.1961097C>G	NCI-TCGA
rs754150618	p.His1110Gln	missense variant	-	NC_000004.12:g.1961109C>A	ExAC,TOPMed,gnomAD
rs750479519	p.Asp1113Asn	missense variant	-	NC_000004.12:g.1961116G>A	ExAC,gnomAD
rs1295039148	p.His1116Tyr	missense variant	-	NC_000004.12:g.1961125C>T	TOPMed
rs751318500	p.Ile1122Val	missense variant	-	NC_000004.12:g.1961143A>G	ExAC,gnomAD
COSM3674156	p.Arg1126His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1974867G>A	NCI-TCGA Cosmic
COSM1429106	p.Ile1127Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1974869A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1131Asp	missense variant	-	NC_000004.12:g.1974882G>A	NCI-TCGA
COSM4124011	p.Pro1132Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1974884C>A	NCI-TCGA Cosmic
rs778377665	p.Pro1132Arg	missense variant	-	NC_000004.12:g.1974885C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly1134Arg	missense variant	-	NC_000004.12:g.1974890G>A	NCI-TCGA
NCI-TCGA novel	p.Ser1143Arg	missense variant	-	NC_000004.12:g.1974919C>A	NCI-TCGA
rs1251315025	p.Leu1151Phe	missense variant	-	NC_000004.12:g.1974941C>T	TOPMed
NCI-TCGA novel	p.Val1155Met	missense variant	-	NC_000004.12:g.1974953G>A	NCI-TCGA
COSM3781150	p.Arg1160His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1974969G>A	NCI-TCGA Cosmic
rs1380951165	p.Arg1160Cys	missense variant	-	NC_000004.12:g.1974968C>T	gnomAD
rs375277590	p.Val1166Ile	missense variant	-	NC_000004.12:g.1974986G>A	ESP,ExAC,TOPMed,gnomAD
COSM447713	p.Asp1168Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1974992G>A	NCI-TCGA Cosmic
rs1460279946	p.Asp1168His	missense variant	-	NC_000004.12:g.1974992G>C	TOPMed
rs769777776	p.Ala1171Glu	missense variant	-	NC_000004.12:g.1975002C>A	ExAC,TOPMed,gnomAD
rs770661384	p.Gly1172Glu	missense variant	-	NC_000004.12:g.1975294G>A	ExAC,gnomAD
rs201530243	p.Thr1173Met	missense variant	-	NC_000004.12:g.1975297C>T	ExAC,TOPMed,gnomAD
rs1285311675	p.Thr1173Ser	missense variant	-	NC_000004.12:g.1975296A>T	TOPMed
rs201530243	p.Thr1173Arg	missense variant	-	NC_000004.12:g.1975297C>G	ExAC,TOPMed,gnomAD
rs1384015236	p.Glu1187Asp	missense variant	-	NC_000004.12:g.1975340A>C	TOPMed,gnomAD
rs758809828	p.Thr1189Met	missense variant	-	NC_000004.12:g.1975345C>T	ExAC,TOPMed,gnomAD
COSM3993611	p.Val1190Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1975347G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys1191Tyr	missense variant	-	NC_000004.12:g.1975351G>A	NCI-TCGA
rs751874982	p.Arg1192Trp	missense variant	-	NC_000004.12:g.1975353C>T	ExAC,gnomAD
COSM4124013	p.Asp1204Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1975390A>G	NCI-TCGA Cosmic
rs1264602948	p.Thr1208Ile	missense variant	-	NC_000004.12:g.1976476C>T	gnomAD
rs777823476	p.Ser1209Leu	missense variant	-	NC_000004.12:g.1976479C>T	ExAC,gnomAD
rs756992765	p.Thr1210Met	missense variant	-	NC_000004.12:g.1976482C>T	ExAC,gnomAD
rs878870013	p.Thr1211Asn	missense variant	-	NC_000004.12:g.1976485C>A	gnomAD
rs778715134	p.Thr1211Ser	missense variant	-	NC_000004.12:g.1976484A>T	ExAC,TOPMed,gnomAD
rs945268423	p.Leu1212Val	missense variant	-	NC_000004.12:g.1976487C>G	TOPMed
rs1416610820	p.Glu1215Asp	missense variant	-	NC_000004.12:g.1976498G>C	TOPMed
rs1423726760	p.Glu1216Lys	missense variant	-	NC_000004.12:g.1976499G>A	TOPMed
rs1290861908	p.Glu1216Gly	missense variant	-	NC_000004.12:g.1976500A>G	TOPMed,gnomAD
rs1290861908	p.Glu1216Val	missense variant	-	NC_000004.12:g.1976500A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Lys1217Gln	missense variant	-	NC_000004.12:g.1976502A>C	NCI-TCGA
NCI-TCGA novel	p.Lys1220ArgPheSerTerUnkUnkUnk	frameshift	-	NC_000004.12:g.1976508A>-	NCI-TCGA
rs746488285	p.Lys1220Met	missense variant	-	NC_000004.12:g.1976512A>T	ExAC,gnomAD
rs144327097	p.Thr1221Ile	missense variant	-	NC_000004.12:g.1976515C>T	ESP,ExAC,gnomAD
rs754405808	p.Thr1225Met	missense variant	-	NC_000004.12:g.1976527C>T	TOPMed
NCI-TCGA novel	p.Arg1227Trp	missense variant	-	NC_000004.12:g.1976532C>T	NCI-TCGA
COSM1054445	p.Arg1228His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1976536G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg1228Cys	missense variant	-	NC_000004.12:g.1976535C>T	NCI-TCGA
rs1256308174	p.Gly1232Arg	missense variant	-	NC_000004.12:g.1976547G>A	TOPMed
rs1305960757	p.Glu1233Lys	missense variant	-	NC_000004.12:g.1976550G>A	gnomAD
rs1317326083	p.Gly1234Arg	missense variant	-	NC_000004.12:g.1976553G>A	gnomAD
rs773694055	p.Gly1234Glu	missense variant	-	NC_000004.12:g.1976554G>A	ExAC,gnomAD
rs763391838	p.Gln1237Arg	missense variant	-	NC_000004.12:g.1976563A>G	ExAC,gnomAD
rs774737951	p.Glu1241Lys	missense variant	-	NC_000004.12:g.1976574G>A	ExAC,gnomAD
rs774737951	p.Glu1241Gln	missense variant	-	NC_000004.12:g.1976574G>C	ExAC,gnomAD
rs1420066426	p.Arg1244His	missense variant	-	NC_000004.12:g.1976584G>A	gnomAD
rs376629334	p.Arg1244Cys	missense variant	-	NC_000004.12:g.1976583C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1424067803	p.Gly1246Ser	missense variant	-	NC_000004.12:g.1976589G>A	gnomAD
rs1367549846	p.Gly1249Arg	missense variant	-	NC_000004.12:g.1976598G>A	gnomAD
rs1439876719	p.Gly1249Glu	missense variant	-	NC_000004.12:g.1976599G>A	gnomAD
rs901340615	p.Arg1256His	missense variant	-	NC_000004.12:g.1976620G>A	TOPMed,gnomAD
rs1467938486	p.Ala1262Val	missense variant	-	NC_000004.12:g.1976638C>T	TOPMed
rs779674908	p.Ser1266Cys	missense variant	-	NC_000004.12:g.1976650C>G	ExAC,gnomAD
rs1166649020	p.Arg1273Gln	missense variant	-	NC_000004.12:g.1976671G>A	TOPMed,gnomAD
rs1251301694	p.Pro1274Leu	missense variant	-	NC_000004.12:g.1976674C>T	TOPMed,gnomAD
rs1457835886	p.Phe1275Ile	missense variant	-	NC_000004.12:g.1976676T>A	TOPMed
NCI-TCGA novel	p.Lys1277Met	missense variant	-	NC_000004.12:g.1978641A>T	NCI-TCGA
rs146059943	p.Glu1279Asp	missense variant	-	NC_000004.12:g.1978648A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1429108	p.Pro1281His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978653C>A	NCI-TCGA Cosmic
rs768972964	p.Pro1291Leu	missense variant	-	NC_000004.12:g.1978683C>T	ExAC,TOPMed,gnomAD
COSM420623	p.Ser1292Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978686C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1292PhePheSerTerUnkUnk	frameshift	-	NC_000004.12:g.1978681_1978682insC	NCI-TCGA
rs761945829	p.Ser1294Leu	missense variant	-	NC_000004.12:g.1978692C>T	ExAC,TOPMed,gnomAD
COSM4124017	p.Leu1298Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978703C>A	NCI-TCGA Cosmic
rs1035199365	p.Leu1298Phe	missense variant	-	NC_000004.12:g.1978703C>T	gnomAD
rs1035199365	p.Leu1298Val	missense variant	-	NC_000004.12:g.1978703C>G	gnomAD
NCI-TCGA novel	p.Pro1300Thr	missense variant	-	NC_000004.12:g.1978709C>A	NCI-TCGA
rs751306053	p.Asn1301Ser	missense variant	-	NC_000004.12:g.1978713A>G	ExAC,TOPMed,gnomAD
COSM1429109	p.Ser1302Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978716C>T	NCI-TCGA Cosmic
rs767126550	p.Phe1303Leu	missense variant	-	NC_000004.12:g.1978720C>G	ExAC,TOPMed,gnomAD
rs1232165839	p.Lys1305Glu	missense variant	-	NC_000004.12:g.1978724A>G	TOPMed,gnomAD
rs1346394191	p.Glu1306Gln	missense variant	-	NC_000004.12:g.1978727G>C	gnomAD
rs752348506	p.Gln1308His	missense variant	-	NC_000004.12:g.1978735G>C	ExAC,gnomAD
rs755643031	p.Asp1309His	missense variant	-	NC_000004.12:g.1978736G>C	ExAC,TOPMed,gnomAD
rs777078587	p.Gly1310Glu	missense variant	-	NC_000004.12:g.1978740G>A	ExAC,TOPMed,gnomAD
COSM481151	p.Thr1311Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978743C>T	NCI-TCGA Cosmic
rs142278631	p.Thr1311Ala	missense variant	-	NC_000004.12:g.1978742A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs515582	p.Ala1312Thr	missense variant	-	NC_000004.12:g.1978745G>A	TOPMed,gnomAD
rs780733114	p.Ala1312Val	missense variant	-	NC_000004.12:g.1978746C>T	ExAC,gnomAD
rs515582	p.Ala1312Ser	missense variant	-	NC_000004.12:g.1978745G>T	TOPMed,gnomAD
rs1220405765	p.Phe1313Leu	missense variant	-	NC_000004.12:g.1978748T>C	gnomAD
rs1418175764	p.Ser1314Arg	missense variant	-	NC_000004.12:g.1978751A>C	TOPMed,gnomAD
rs1418175764	p.Ser1314Gly	missense variant	-	NC_000004.12:g.1978751A>G	TOPMed,gnomAD
rs1268072056	p.Thr1316Ser	missense variant	-	NC_000004.12:g.1978758C>G	gnomAD
NCI-TCGA novel	p.Pro1317ArgPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.1978758C>-	NCI-TCGA
rs769203933	p.Pro1317Arg	missense variant	-	NC_000004.12:g.1978761C>G	ExAC,TOPMed,gnomAD
rs769203933	p.Pro1317Leu	missense variant	-	NC_000004.12:g.1978761C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1319Arg	missense variant	-	NC_000004.12:g.1978766G>A	NCI-TCGA
rs151213547	p.Arg1320Trp	missense variant	-	NC_000004.12:g.1978769C>T	ESP,ExAC,TOPMed,gnomAD
rs773117985	p.Arg1320Gln	missense variant	-	NC_000004.12:g.1978770G>A	ExAC,TOPMed,gnomAD
rs763053114	p.Ser1321Pro	missense variant	-	NC_000004.12:g.1978772T>C	ExAC,TOPMed,gnomAD
rs951676878	p.Ser1321Phe	missense variant	-	NC_000004.12:g.1978773C>T	gnomAD
COSM4124021	p.Cys1323Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978778T>C	NCI-TCGA Cosmic
rs759312671	p.Cys1323Ser	missense variant	-	NC_000004.12:g.1978779G>C	ExAC,TOPMed,gnomAD
rs759312671	p.Cys1323Tyr	missense variant	-	NC_000004.12:g.1978779G>A	ExAC,TOPMed,gnomAD
rs985805727	p.Glu1325Gly	missense variant	-	NC_000004.12:g.1978785A>G	gnomAD
rs752539028	p.His1326Gln	missense variant	-	NC_000004.12:g.1978789T>G	ExAC,gnomAD
rs1280330106	p.His1326Tyr	missense variant	-	NC_000004.12:g.1978787C>T	gnomAD
rs1244088714	p.Asp1327His	missense variant	-	NC_000004.12:g.1978790G>C	gnomAD
rs1291087144	p.Asp1327Glu	missense variant	-	NC_000004.12:g.1978792C>G	TOPMed,gnomAD
rs1161045853	p.Gly1329Ala	missense variant	-	NC_000004.12:g.1978797G>C	TOPMed,gnomAD
rs1161045853	p.Gly1329Glu	missense variant	-	NC_000004.12:g.1978797G>A	TOPMed,gnomAD
rs760185069	p.Ala1330Val	missense variant	-	NC_000004.12:g.1978800C>T	ExAC,TOPMed,gnomAD
rs965788333	p.Ala1330Thr	missense variant	-	NC_000004.12:g.1978799G>A	TOPMed
rs200615147	p.Ala1331Val	missense variant	-	NC_000004.12:g.1978803C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs561070783	p.Ser1332Leu	missense variant	-	NC_000004.12:g.1978806C>T	1000Genomes,ExAC,gnomAD
rs755548968	p.Val1333Ala	missense variant	-	NC_000004.12:g.1978809T>C	ExAC,gnomAD
rs1459045548	p.Arg1334Gly	missense variant	-	NC_000004.12:g.1978811A>G	TOPMed,gnomAD
rs934528153	p.Ser1335Arg	missense variant	-	NC_000004.12:g.1978816C>G	gnomAD
rs769868346	p.Thr1336Ser	missense variant	-	NC_000004.12:g.1978818C>G	ExAC,gnomAD
rs769868346	p.Thr1336Ile	missense variant	-	NC_000004.12:g.1978818C>T	ExAC,gnomAD
rs139213191	p.Thr1336Pro	missense variant	-	NC_000004.12:g.1978817A>C	ESP,ExAC
rs998624369	p.Thr1338Ala	missense variant	-	NC_000004.12:g.1978823A>G	TOPMed,gnomAD
rs1033243246	p.Thr1338Ile	missense variant	-	NC_000004.12:g.1978824C>T	TOPMed
rs749348112	p.Glu1339Lys	missense variant	-	NC_000004.12:g.1978826G>A	ExAC,TOPMed,gnomAD
rs199956960	p.Lys1340Asn	missense variant	-	NC_000004.12:g.1978831G>T	ESP,ExAC,TOPMed
rs199956960	p.Lys1340Asn	missense variant	-	NC_000004.12:g.1978831G>C	ESP,ExAC,TOPMed
rs914518920	p.Pro1341Thr	missense variant	-	NC_000004.12:g.1978832C>A	TOPMed,gnomAD
rs914518920	p.Pro1341Ala	missense variant	-	NC_000004.12:g.1978832C>G	TOPMed,gnomAD
rs774265779	p.Pro1341Arg	missense variant	-	NC_000004.12:g.1978833C>G	ExAC,TOPMed,gnomAD
rs774265779	p.Pro1341Leu	missense variant	-	NC_000004.12:g.1978833C>T	ExAC,TOPMed,gnomAD
rs774265779	p.Pro1341His	missense variant	-	NC_000004.12:g.1978833C>A	ExAC,TOPMed,gnomAD
rs201619712	p.Pro1342Arg	missense variant	-	NC_000004.12:g.1978836C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201619712	p.Pro1342Leu	missense variant	-	NC_000004.12:g.1978836C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs535066596	p.Pro1342Thr	missense variant	-	NC_000004.12:g.1978835C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201619712	p.Pro1342His	missense variant	-	NC_000004.12:g.1978836C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs535066596	p.Pro1342Ser	missense variant	-	NC_000004.12:g.1978835C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs368799821	p.Pro1343Arg	missense variant	-	NC_000004.12:g.1978839C>G	ESP,ExAC,TOPMed,gnomAD
rs368799821	p.Pro1343Leu	missense variant	-	NC_000004.12:g.1978839C>T	ESP,ExAC,TOPMed,gnomAD
rs368799821	p.Pro1343Gln	missense variant	-	NC_000004.12:g.1978839C>A	ESP,ExAC,TOPMed,gnomAD
rs142054662	p.Pro1343Ala	missense variant	-	NC_000004.12:g.1978838C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142054662	p.Pro1343Ser	missense variant	-	NC_000004.12:g.1978838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142054662	p.Pro1343Thr	missense variant	-	NC_000004.12:g.1978838C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755520256	p.Pro1343GlnPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.1978832C>-	NCI-TCGA,NCI-TCGA Cosmic
rs552288309	p.Glu1344Gly	missense variant	-	NC_000004.12:g.1978842A>G	1000Genomes,ExAC,gnomAD
rs950025435	p.Glu1344Lys	missense variant	-	NC_000004.12:g.1978841G>A	TOPMed,gnomAD
rs752037034	p.Glu1344ArgPheSerTerUnkUnk	frameshift	-	NC_000004.12:g.1978831_1978832insC	NCI-TCGA,NCI-TCGA Cosmic
rs745966514	p.Pro1345Ala	missense variant	-	NC_000004.12:g.1978844C>G	ExAC,TOPMed,gnomAD
rs745966514	p.Pro1345Ser	missense variant	-	NC_000004.12:g.1978844C>T	ExAC,TOPMed,gnomAD
rs1172013755	p.Lys1347Asn	missense variant	-	NC_000004.12:g.1978852G>C	gnomAD
rs370127436	p.Pro1348Leu	missense variant	-	NC_000004.12:g.1978854C>T	ESP,TOPMed
rs775533504	p.Lys1349Met	missense variant	-	NC_000004.12:g.1978857A>T	ExAC,TOPMed,gnomAD
rs746770939	p.Lys1349Asn	missense variant	-	NC_000004.12:g.1978858G>T	ExAC,TOPMed,gnomAD
rs569412351	p.Lys1351Thr	missense variant	-	NC_000004.12:g.1978863A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs569412351	p.Lys1351Met	missense variant	-	NC_000004.12:g.1978863A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761501519	p.Arg1353Trp	missense variant	-	NC_000004.12:g.1978868C>T	ExAC,TOPMed,gnomAD
rs1379056879	p.Arg1353Gln	missense variant	-	NC_000004.12:g.1978869G>A	TOPMed
rs903302389	p.Arg1354Gln	missense variant	-	NC_000004.12:g.1978872G>A	TOPMed,gnomAD
rs201148179	p.Arg1355Trp	missense variant	-	NC_000004.12:g.1978874C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1280034307	p.Arg1355Pro	missense variant	-	NC_000004.12:g.1978875G>C	TOPMed,gnomAD
rs1280034307	p.Arg1355Gln	missense variant	-	NC_000004.12:g.1978875G>A	TOPMed,gnomAD
rs762564946	p.Arg1356Lys	missense variant	-	NC_000004.12:g.1978878G>A	ExAC,gnomAD
rs767888998	p.Gly1357Ser	missense variant	-	NC_000004.12:g.1978880G>A	ExAC,TOPMed,gnomAD
rs753305456	p.Gly1357Ala	missense variant	-	NC_000004.12:g.1978881G>C	ExAC,gnomAD
rs753305456	p.Gly1357Asp	missense variant	-	NC_000004.12:g.1978881G>A	ExAC,gnomAD
COSM1054448	p.Trp1358Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000004.12:g.1978883T>C	NCI-TCGA Cosmic
rs1553881444	p.Trp1358Ter	stop gained	-	NC_000004.12:g.1978885G>A	-
RCV000500590	p.Trp1358Ter	nonsense	-	NC_000004.12:g.1978885G>A	ClinVar
rs764374372	p.Arg1359Gly	missense variant	-	NC_000004.12:g.1978886C>G	ExAC,TOPMed,gnomAD
rs764374372	p.Arg1359Trp	missense variant	-	NC_000004.12:g.1978886C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1361Asp	missense variant	-	NC_000004.12:g.1978893T>A	NCI-TCGA
rs757420003	p.Val1361Ile	missense variant	-	NC_000004.12:g.1978892G>A	ExAC,gnomAD
rs997272577	p.Val1361Ala	missense variant	-	NC_000004.12:g.1978893T>C	TOPMed
rs548852837	p.Gly1364Cys	missense variant	-	NC_000004.12:g.1978901G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs548852837	p.Gly1364Ser	missense variant	-	NC_000004.12:g.1978901G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs758550808	p.Lys1365Glu	missense variant	-	NC_000004.12:g.1978904A>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0003706	Arachnodactyly	disease	HPO
C0005745	Blepharoptosis	disease	HPO
C0006142	Malignant neoplasm of breast	disease	BEFREE;CTD_human
C0007621	Neoplastic Cell Transformation	phenotype	CTD_human
C0007758	Cerebellar Ataxia	phenotype	HPO
C0007847	Malignant tumor of cervix	disease	BEFREE
C0008441	Chondroblastoma	disease	BEFREE
C0008626	Congenital chromosomal disease	group	BEFREE
C0008924	Cleft upper lip	disease	HPO
C0009081	Congenital clubfoot	disease	HPO
C0010417	Cryptorchidism	disease	HPO
C0011053	Deafness	phenotype	HPO
C0014175	Endometriosis	disease	BEFREE
C0014544	Epilepsy	disease	HPO
C0015300	Exophthalmos	disease	HPO
C0015934	Fetal Growth Retardation	phenotype	HPO
C0017168	Gastroesophageal reflux disease	disease	HPO
C0018772	Hearing Loss, Partial	phenotype	HPO
C0018817	Atrial Septal Defects	group	HPO
C0018818	Ventricular Septal Defects	group	HPO
C0018824	Heart valve disease	group	HPO
C0018834	Heartburn	phenotype	HPO
C0018916	Hemangioma	disease	HPO
C0019554	Hip Dislocation	phenotype	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0020608	Hypodontia	disease	HPO
C0021296	Infant, Small for Gestational Age	phenotype	HPO
C0022658	Kidney Diseases	group	HPO
C0022821	Kyphosis deformity of spine	phenotype	HPO
C0023418	leukemia	disease	LHGDN
C0023449	Acute lymphocytic leukemia	disease	BEFREE
C0023452	Childhood Acute Lymphoblastic Leukemia	disease	BEFREE;CTD_human
C0023453	Leukemia, Lymphocytic, Acute, L2	disease	CTD_human
C0023484	Leukemia, Plasma Cell	disease	BEFREE
C0024032	Low Birth Weights	phenotype	HPO
C0025990	Micrognathism	disease	HPO
C0026470	Monoclonal Gammopathy of Undetermined Significance	disease	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE;LHGDN
C0026827	Muscle hypotonia	phenotype	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0028738	Nystagmus	disease	HPO
C0029124	Optic Atrophy	disease	HPO
C0029463	Osteosarcoma	disease	BEFREE
C0034013	Precocious Puberty	disease	HPO
C0036572	Seizures	phenotype	HPO
C0036857	Severe mental retardation (I.Q. 20-34)	disease	HPO
C0037932	Curvature of spine	phenotype	HPO
C0038271	Stereotyped Behavior	phenotype	HPO
C0038273	Stereotypic Movement Disorder	phenotype	HPO
C0038379	Strabismus	disease	HPO
C0043207	Wolfram Syndrome	disease	BEFREE
C0080218	Tethered Cord Syndrome	disease	HPO
C0152423	Congenital small ears	disease	HPO
C0158761	Radioulnar Synostosis	disease	HPO
C0175695	Sotos' syndrome	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0221354	Frontal bossing	disease	HPO
C0221358	Long narrow head	phenotype	HPO
C0221373	Claw hand	disease	HPO
C0231246	Failure to gain weight	phenotype	HPO
C0231791	Toeing-in	phenotype	HPO
C0235659	Reduced fetal movement	phenotype	HPO
C0235833	Congenital diaphragmatic hernia	disease	HPO
C0235991	Small for gestational age (disorder)	phenotype	HPO
C0239676	High forehead	phenotype	HPO
C0240063	Coloboma of iris	phenotype	HPO
C0240538	Convex nasal ridge	phenotype	HPO
C0241210	Speech Delay	phenotype	BEFREE
C0241654	Abnormality of the heart valves	phenotype	HPO
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0265341	Rieger syndrome	disease	HPO
C0266292	Congenital anomaly of the kidney	group	HPO
C0266610	Preauricular dimple	disease	HPO
C0266625	Congenital preauricular sinus	disease	HPO
C0266631	Accessory spleen	phenotype	HPO
C0302592	Cervix carcinoma	disease	BEFREE
C0339789	Congenital deafness	disease	HPO
C0349588	Short stature	phenotype	HPO
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0395837	Stenosis of external auditory canal	disease	HPO
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0426848	Sacral dimples	phenotype	HPO
C0431371	Absence of septum pellucidum	disease	HPO
C0431483	Simple ear	phenotype	HPO
C0431890	Hypoplasia of thumb	disease	HPO
C0541764	Delayed bone age	phenotype	HPO
C0546969	Preauricular Fistulae, Congenital	disease	HPO
C0557874	Global developmental delay	disease	BEFREE;HPO
C0576860	Narrowing of ear canal	phenotype	HPO
C0585442	Osteosarcoma of bone	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;CTD_human
C0678230	Congenital Epicanthus	disease	HPO
C0684249	Carcinoma of lung	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0796117	Pitt-Rogers-Danks Syndrome	disease	CTD_human;MGD
C0848558	Hypospadias	group	HPO
C0857379	Abnormality of the pinna	phenotype	HPO
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1271219	Congenital ectopic pupil	disease	HPO
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C1332986	Childhood Osteosarcoma	disease	BEFREE
C1384666	hearing impairment	phenotype	HPO
C1386048	Intrauterine retardation	phenotype	HPO
C1395852	Polydactyly preaxial type 1	disease	HPO
C1458155	Mammary Neoplasms	group	CTD_human
C1691215	Penile hypospadias	disease	HPO
C1835763	Vertebral body fusion	phenotype	HPO
C1837108	Decreased muscle mass	phenotype	HPO
C1837760	Prominent eyes	phenotype	HPO
C1839326	Abnormal form of the vertebral bodies	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1839858	Periventricular cysts	phenotype	HPO
C1840380	Persistent cavum septum pellucidum	phenotype	HPO
C1844749	Rib fusion	disease	HPO
C1844825	Hyperconvex fingernails	phenotype	HPO
C1845112	Hyperkyphosis	phenotype	HPO
C1848490	Protruding eyes	phenotype	HPO
C1848977	Short upper lip	phenotype	HPO
C1849073	Fused vertebrae	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1855698	Aplasia cutis congenita of scalp	disease	HPO
C1855728	Low posterior hairline	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1857641	Severe postnatal growth retardation	phenotype	HPO
C1858120	Generalized hypotonia	phenotype	HPO
C1860243	Abnormal sternal ossification	phenotype	HPO
C1860244	Malrotation of small bowel	phenotype	HPO
C1860247	Prominent glabella	phenotype	HPO
C1860253	Pseudoepiphyses of the metacarpals	phenotype	HPO
C1860816	Preauricular skin tag	phenotype	HPO
C1861324	Short philtrum	phenotype	HPO
C1862425	Prominent globes	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C1865992	Short hallux	phenotype	HPO
C1866195	Downturned corners of mouth	phenotype	HPO
C1868571	Highly arched eyebrow	phenotype	HPO
C1956097	Wolf-Hirschhorn Syndrome	disease	BEFREE;CTD_human;MGD;ORPHANET
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	CTD_human
C1968999	Rib segmentation abnormalities	phenotype	HPO
C1969176	Hypoplastic pubic rami	phenotype	HPO
C2315100	Pediatric failure to thrive	disease	HPO
C2939420	Metastatic Neoplasm	phenotype	BEFREE
C2981150	Uranostaphyloschisis	disease	HPO
C3276036	High anterior hairline	phenotype	HPO
C3278509	Spinal fusion	phenotype	HPO
C3278923	Dilated ventricles (finding)	phenotype	HPO
C3714948	PACHYONYCHIA CONGENITA 3	disease	BEFREE
C4020849	Bowed and upward slanting eyebrows	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4024996	Aplasia/Hypoplasia of the lungs	phenotype	HPO
C4025320	Craniofacial asymmetry	phenotype	HPO
C4025787	Calvarial skull defect	phenotype	HPO
C4048328	cervical cancer	disease	BEFREE
C4048801	Scalp defect	phenotype	HPO
C4072826	Skin tag on the posterior cheek	phenotype	HPO
C4072857	Focal absence of scalp tissue	phenotype	HPO
C4072858	Solitary scalp defect	phenotype	HPO
C4082169	Metatarsus Varus	phenotype	HPO
C4280596	Calvarial defect	phenotype	HPO
C4280653	Turridolichocephaly	disease	HPO
C4280654	Narrow skull shape	disease	HPO
C4280655	Narrow head shape	disease	HPO
C4280656	Narrow cranium shape	disease	HPO
C4317146	Acid reflux	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:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0003682	chromatin binding	IEA
GO:0005515	protein binding	IPI
GO:0042799	histone methyltransferase activity (H4-K20 specific)	TAS
GO:0043565	sequence-specific DNA binding	IEA
GO:0046872	metal ion binding	IEA
GO:0046975	histone methyltransferase activity (H3-K36 specific)	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA
GO:0003149	membranous septum morphogenesis	IEA
GO:0003289	atrial septum primum morphogenesis	IEA
GO:0003290	atrial septum secundum morphogenesis	IEA
GO:0006303	double-strand break repair via nonhomologous end joining	TAS
GO:0006355	regulation of transcription, DNA-templated	IBA
GO:0010452	histone H3-K36 methylation	IEA
GO:0034770	histone H4-K20 methylation	IEA
GO:0048298	positive regulation of isotype switching to IgA isotypes	IEA
GO:0060348	bone development	IEA
GO:0070201	regulation of establishment of protein localization	IEA
GO:2001032	regulation of double-strand break repair via nonhomologous end joining	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0000785	chromatin	IBA
GO:0005634	nucleus	IBA
GO:0005654	nucleoplasm	IDA
GO:0005654	nucleoplasm	TAS
GO:0005737	cytoplasm	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1640170	Cell Cycle	TAS
R-HSA-3214841	PKMTs methylate histone lysines	TAS
R-HSA-3247509	Chromatin modifying enzymes	TAS
R-HSA-4839726	Chromatin organization	TAS
R-HSA-5693532	DNA Double-Strand Break Repair	TAS
R-HSA-5693538	Homology Directed Repair	TAS
R-HSA-5693565	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks	TAS
R-HSA-5693567	HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)	TAS
R-HSA-5693571	Nonhomologous End-Joining (NHEJ)	TAS
R-HSA-5693606	DNA Double Strand Break Response	TAS
R-HSA-5693607	Processing of DNA double-strand break ends	TAS
R-HSA-69473	G2/M DNA damage checkpoint	TAS
R-HSA-69481	G2/M Checkpoints	TAS
R-HSA-69620	Cell Cycle Checkpoints	TAS
R-HSA-73894	DNA Repair	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of NSD2 mRNA	19933214
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 NSD2 mRNA	25510870
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of NSD2 mRNA	19167446
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 NSD2 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 NSD2 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 NSD2 mRNA	25510870
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 NSD2 mRNA	25510870
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in increased expression of NSD2 mRNA	20406850
C472791	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid	3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of NSD2 mRNA	16788091
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 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 NSD2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of NSD2 mRNA	19150397; 20382639;
D000082	Acetaminophen	Acetaminophen results in increased expression of NSD2 mRNA	22230336
D000082	Acetaminophen	Acetaminophen affects the expression of NSD2 mRNA	17562736
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of NSD2 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of NSD2 mRNA	19770486
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of NSD2 mRNA	21298039
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of NSD2 mRNA	24449571
D001151	Arsenic	Arsenic affects the methylation of NSD2 gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of NSD2 mRNA	20458559
D001205	Ascorbic Acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in decreased expression of NSD2 mRNA	26424790
D001280	Atrazine	Atrazine results in increased expression of NSD2 mRNA	25929836
C547126	AZM551248	AZM551248 results in increased expression of NSD2 mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of NSD2 mRNA	20064835; 26238291;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of NSD2 mRNA	19770486
D001599	Berberine	Berberine results in decreased expression of NSD2 mRNA	27311644
C031463	beta-glycerophosphoric acid	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in decreased expression of NSD2 mRNA	26424790
C006780	bisphenol A	bisphenol A affects the expression of NSD2 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of NSD2 mRNA	29275510
C006780	bisphenol A	bisphenol A affects the expression of NSD2 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in decreased expression of NSD2 mRNA	26079696
D002117	Calcitriol	Calcitriol results in decreased expression of NSD2 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in decreased expression of NSD2 mRNA	21592394
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of NSD2 mRNA	31150632
D007631	Chlordecone	Chlordecone results in increased expression of NSD2 mRNA	29458080
D002922	Ciguatoxins	Ciguatoxins affects the expression of NSD2 mRNA	18353800
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of NSD2 mRNA	19320972; 19376846;
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of NSD2 mRNA	20971185
D003300	Copper	Copper results in increased expression of NSD2 mRNA	30556269
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of NSD2 mRNA	19789285
D019327	Copper Sulfate	Copper Sulfate results in increased expression of NSD2 mRNA	19789285
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of NSD2 mRNA	19549813
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of NSD2 mRNA	19167446
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in increased expression of NSD2 mRNA	19167446
D003375	Coumestrol	Coumestrol results in increased expression of NSD2 mRNA	19167446
D000069439	Dasatinib	Dasatinib results in decreased expression of NSD2 mRNA	20579391
D003907	Dexamethasone	[Ascorbic Acid co-treated with beta-glycerophosphoric acid co-treated with Dexamethasone] results in decreased expression of NSD2 mRNA	26424790
C041517	dibenzo(a,l)pyrene	dibenzo(a,l)pyrene results in decreased expression of NSD2 mRNA	25908611
D004026	Dieldrin	Dieldrin results in decreased expression of NSD2 mRNA	23041725
D004041	Dietary Fats	Dietary Fats results in decreased expression of NSD2 mRNA	25016146
C015835	dimethyl-4-toluidine	dimethyl-4-toluidine results in decreased expression of NSD2 mRNA	27638505
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 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 NSD2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of NSD2 mRNA	29803840
C118739	entinostat	entinostat results in decreased expression of NSD2 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
D004958	Estradiol	Estradiol results in increased expression of NSD2 mRNA	24874954
D000431	Ethanol	Ethanol affects the splicing of NSD2 mRNA	30319688
D017313	Fenretinide	Fenretinide results in decreased expression of NSD2 mRNA	28973697
C007836	geraniol	geraniol results in decreased expression of NSD2 mRNA	27683099
D006220	Haloperidol	Haloperidol results in increased expression of NSD2 mRNA	29458080
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in decreased expression of NSD2 mRNA	29522793
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of NSD2 mRNA	25613284
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of NSD2 mRNA	24796395
D007854	Lead	Lead results in increased expression of NSD2 mRNA	19921347
D018021	Lithium Chloride	Lithium Chloride results in decreased expression of NSD2 mRNA	23527032
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of NSD2 mRNA	26011545
D008777	Methyltestosterone	Methyltestosterone results in decreased expression of NSD2 mRNA	29191790
D009151	Mustard Gas	Mustard Gas results in increased expression of NSD2 mRNA	26392148
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of NSD2 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of NSD2 mRNA	25554681
D009532	Nickel	Nickel results in increased expression of NSD2 mRNA	25583101
D009532	Nickel	Nickel results in increased expression of NSD2 mRNA	18922574
C028007	nickel monoxide	nickel monoxide results in increased expression of NSD2 mRNA	19167457
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of NSD2 mRNA	20188158
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of NSD2 mRNA	20971185
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of NSD2 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in decreased expression of NSD2 mRNA	25729387
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in decreased expression of NSD2 mRNA	26272509
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 NSD2 mRNA	25510870
D010634	Phenobarbital	Phenobarbital affects the expression of NSD2 mRNA	23091169
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 NSD2 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of NSD2 mRNA	26272509
D011374	Progesterone	Progesterone results in increased expression of NSD2 mRNA	19690047
D011441	Propylthiouracil	Propylthiouracil results in increased expression of NSD2 mRNA	24780913
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in increased expression of NSD2 mRNA	19167446
D012715	Sesame Oil	Sesame Oil results in increased expression of NSD2 mRNA	29191790
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of NSD2 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of NSD2 mRNA	23806026
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in decreased expression of NSD2 mRNA	15336504
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in decreased expression of NSD2 mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of NSD2 mRNA	21592394
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of NSD2 mRNA	19933214
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of NSD2 mRNA	19465110
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of NSD2 mRNA	25613284
D013853	Thioacetamide	Thioacetamide results in increased expression of NSD2 mRNA	23411599
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of NSD2 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of NSD2 mRNA	25729387
D014212	Tretinoin	Tretinoin results in increased expression of NSD2 mRNA	16788091
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of NSD2 mRNA	24935251; 26272509;
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of NSD2 mRNA	19042947
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of NSD2 mRNA	26179874
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of NSD2 mRNA	19101580; 23179753; 24383497; 24935251; 26272509; 28001369;
C025643	vinclozolin	vinclozolin results in decreased expression of NSD2 mRNA	22570695
C025643	vinclozolin	vinclozolin results in increased expression of NSD2 mRNA	23034163
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of NSD2 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0156	Chromatin regulator
KW-0160	Chromosomal rearrangement
KW-0158	Chromosome
KW-0963	Cytoplasm
KW-0238	DNA-binding
KW-0479	Metal-binding
KW-0489	Methyltransferase
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0656	Proto-oncogene
KW-1185	Reference proteome
KW-0677	Repeat
KW-0949	S-adenosyl-L-methionine
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0808	Transferase
KW-0862	Zinc
KW-0863	Zinc-finger

Interpro

InterPro ID	InterPro Term
IPR006560	AWS_dom
IPR041306	C5HCH
IPR009071	HMG_box_dom
IPR036910	HMG_box_dom_sf
IPR003616	Post-SET_dom
IPR000313	PWWP_dom
IPR001214	SET_dom
IPR019786	Zinc_finger_PHD-type_CS
IPR011011	Znf_FYVE_PHD
IPR001965	Znf_PHD
IPR019787	Znf_PHD-finger
IPR001841	Znf_RING
IPR013083	Znf_RING/FYVE/PHD

PROSITE

PROSITE ID	PROSITE Term
PS51215	AWS
PS50118	HMG_BOX_2
PS50868	POST_SET
PS50812	PWWP
PS50280	SET
PS01359	ZF_PHD_1
PS50016	ZF_PHD_2

Pfam

Pfam ID	Pfam Term
PF17907	AWS
PF17982	C5HCH
PF00505	HMG_box
PF00855	PWWP
PF00856	SET

Gene: NSD2

Basic information

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-miRNA interaction