CleftGeneDB-Search

Gene: JAG2

Basic information

Tag	Content
Uniprot ID	Q9Y219; Q9UE17; Q9UE99; Q9UNK8; Q9Y6P9; Q9Y6Q0;
Entrez ID	3714
Genbank protein ID	AAB61285.1; AAB84215.1; AAB84216.1; CAA74706.1; AAB71189.1; AAD15562.1;
Genbank nucleotide ID	NM_145159.2; NM_002226.4;
Ensembl protein ID	ENSP00000328169; ENSP00000328566;
Ensembl nucleotide ID	ENSG00000184916
Gene name	Protein jagged-2
Gene symbol	JAG2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	20572854; 26151095; 26602496; 16641627; 19049519;
Functional description	Putative Notch ligand involved in the mediation of Notch signaling. Involved in limb development (By similarity).
Sequence	MRAQGRGRLP RRLLLLLALW VQAARPMGYF ELQLSALRNV NGELLSGACC DGDGRTTRAG 60 GCGHDECDTY VRVCLKEYQA KVTPTGPCSY GHGATPVLGG NSFYLPPAGA AGDRARARAR 120 AGGDQDPGLV VIPFQFAWPR SFTLIVEAWD WDNDTTPNEE LLIERVSHAG MINPEDRWKS 180 LHFSGHVAHL ELQIRVRCDE NYYSATCNKF CRPRNDFFGH YTCDQYGNKA CMDGWMGKEC 240 KEAVCKQGCN LLHGGCTVPG ECRCSYGWQG RFCDECVPYP GCVHGSCVEP WQCNCETNWG 300 GLLCDKDLNY CGSHHPCTNG GTCINAEPDQ YRCTCPDGYS GRNCEKAEHA CTSNPCANGG 360 SCHEVPSGFE CHCPSGWSGP TCALDIDECA SNPCAAGGTC VDQVDGFECI CPEQWVGATC 420 QLDANECEGK PCLNAFSCKN LIGGYYCDCI PGWKGINCHI NVNDCRGQCQ HGGTCKDLVN 480 GYQCVCPRGF GGRHCELERD ECASSPCHSG GLCEDLADGF HCHCPQGFSG PLCEVDVDLC 540 EPSPCRNGAR CYNLEGDYYC ACPDDFGGKN CSVPREPCPG GACRVIDGCG SDAGPGMPGT 600 AASGVCGPHG RCVSQPGGNF SCICDSGFTG TYCHENIDDC LGQPCRNGGT CIDEVDAFRC 660 FCPSGWEGEL CDTNPNDCLP DPCHSRGRCY DLVNDFYCAC DDGWKGKTCH SREFQCDAYT 720 CSNGGTCYDS GDTFRCACPP GWKGSTCAVA KNSSCLPNPC VNGGTCVGSG ASFSCICRDG 780 WEGRTCTHNT NDCNPLPCYN GGICVDGVNW FRCECAPGFA GPDCRINIDE CQSSPCAYGA 840 TCVDEINGYR CSCPPGRAGP RCQEVIGFGR SCWSRGTPFP HGSSWVEDCN SCRCLDGRRD 900 CSKVWCGWKP CLLAGQPEAL SAQCPLGQRC LEKAPGQCLR PPCEAWGECG AEEPPSTPCL 960 PRSGHLDNNC ARLTLHFNRD HVPQGTTVGA ICSGIRSLPA TRAVARDRLL VLLCDRASSG 1020 ASAVEVAVSF SPARDLPDSS LIQGAAHAIV AAITQRGNSS LLLAVTEVKV ETVVTGGSST 1080 GLLVPVLCGA FSVLWLACVV LCVWWTRKRR KERERSRLPR EESANNQWAP LNPIRNPIER 1140 PGGHKDVLYQ CKNFTPPPRR ADEALPGPAG HAAVREDEED EDLGRGEEDS LEAEKFLSHK 1200 FTKDPGRSPG RPAHWASGPK VDNRAVRSIN EARYAGKE 1238

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
5MW5
5MW7
5MWF
5MW5

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
JAG2	g.19712C>T	Genotyping and sequencing	26151095
JAG2	rs1057744	Genotyping	16641627
JAG2	rs741859C>T (protective)	iMLDR genotyping	31922603
JAG2	rs11624283A>G	Genotyping	20572854
JAG2	rs2056860C>T	Genotyping	20572854
JAG2	rs1022431C>A	Genotyping	20572854
JAG2	rs11621316*G	Genotyping	26602496
JAG2	haplotype combination rs1057744A/rs909236G (protective)	Genotyping and TDT	19049519
JAG2	haplotype combination rs1057744A/rs909236A (risk)	Genotyping and TDT	19049519
JAG2	haplotype combination rs2238287G/rs105744A/rs909236G (protective)	Genotyping and TDT	19049519

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1203920003	p.Arg2Trp	missense variant	-	NC_000014.9:g.105168417G>A	TOPMed,gnomAD
rs1489728693	p.Ala3Glu	missense variant	-	NC_000014.9:g.105168413G>T	gnomAD
rs1385964571	p.Gln4Ter	stop gained	-	NC_000014.9:g.105168411G>A	gnomAD
rs1265553114	p.Gln4Arg	missense variant	-	NC_000014.9:g.105168410T>C	gnomAD
rs1356915804	p.Arg6Gly	missense variant	-	NC_000014.9:g.105168405G>C	gnomAD
rs1422152305	p.Arg6Pro	missense variant	-	NC_000014.9:g.105168404C>G	TOPMed
rs1427972575	p.Gly7Arg	missense variant	-	NC_000014.9:g.105168402C>T	TOPMed
rs1176911526	p.Arg8Cys	missense variant	-	NC_000014.9:g.105168399G>A	TOPMed
rs1379547288	p.Leu9Val	missense variant	-	NC_000014.9:g.105168396G>C	TOPMed
rs1464734365	p.Pro10Ser	missense variant	-	NC_000014.9:g.105168393G>A	TOPMed
rs1171462313	p.Pro10Leu	missense variant	-	NC_000014.9:g.105168392G>A	TOPMed
rs950064600	p.Arg12Leu	missense variant	-	NC_000014.9:g.105168386C>A	TOPMed,gnomAD
rs950064600	p.Arg12Gln	missense variant	-	NC_000014.9:g.105168386C>T	TOPMed,gnomAD
rs1301401635	p.Leu16Arg	missense variant	-	NC_000014.9:g.105168374A>C	TOPMed
rs1466259948	p.Ala18Val	missense variant	-	NC_000014.9:g.105168368G>A	TOPMed,gnomAD
rs1170731098	p.Leu19Phe	missense variant	-	NC_000014.9:g.105168366G>A	gnomAD
rs991511891	p.Trp20Leu	missense variant	-	NC_000014.9:g.105168362C>A	TOPMed
rs1335464985	p.Ala23Thr	missense variant	-	NC_000014.9:g.105168107C>T	TOPMed,gnomAD
rs773382574	p.Ala24Val	missense variant	-	NC_000014.9:g.105168103G>A	ExAC,TOPMed,gnomAD
rs762082391	p.Arg25Leu	missense variant	-	NC_000014.9:g.105168100C>A	ExAC,TOPMed,gnomAD
rs762082391	p.Arg25Gln	missense variant	-	NC_000014.9:g.105168100C>T	ExAC,TOPMed,gnomAD
rs775197507	p.Pro26Leu	missense variant	-	NC_000014.9:g.105168097G>A	ExAC,gnomAD
rs1418307134	p.Pro26Ser	missense variant	-	NC_000014.9:g.105168098G>A	TOPMed
rs1414820297	p.Met27Ile	missense variant	-	NC_000014.9:g.105168093C>A	gnomAD
rs1177349918	p.Gly28Ser	missense variant	-	NC_000014.9:g.105168092C>T	gnomAD
rs1469187125	p.Tyr29His	missense variant	-	NC_000014.9:g.105168089A>G	gnomAD
COSM4049530	p.Glu31Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105168083C>T	NCI-TCGA Cosmic
rs1461458061	p.Gln33Arg	missense variant	-	NC_000014.9:g.105168076T>C	gnomAD
rs769589604	p.Gln33Glu	missense variant	-	NC_000014.9:g.105168077G>C	ExAC,gnomAD
rs1242341917	p.Gln33His	missense variant	-	NC_000014.9:g.105168075C>A	gnomAD
rs745770089	p.Leu34Val	missense variant	-	NC_000014.9:g.105168074G>C	ExAC,TOPMed,gnomAD
rs781019423	p.Ser35Asn	missense variant	-	NC_000014.9:g.105168070C>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu37Met	missense variant	-	NC_000014.9:g.105168065G>T	NCI-TCGA
rs1350078621	p.Arg38Trp	missense variant	-	NC_000014.9:g.105168062G>A	TOPMed,gnomAD
rs1414590783	p.Arg38Gln	missense variant	-	NC_000014.9:g.105168061C>T	TOPMed
rs746476458	p.Leu44Val	missense variant	-	NC_000014.9:g.105168044G>C	ExAC,TOPMed,gnomAD
rs1383771678	p.Ser46Asn	missense variant	-	NC_000014.9:g.105168037C>T	gnomAD
rs978864470	p.Ala48Thr	missense variant	-	NC_000014.9:g.105168032C>T	TOPMed,gnomAD
rs779365716	p.Gly52Ser	missense variant	-	NC_000014.9:g.105168020C>T	ExAC,gnomAD
rs1221140547	p.Asp53Asn	missense variant	-	NC_000014.9:g.105168017C>T	TOPMed
rs1444910313	p.Gly54Ser	missense variant	-	NC_000014.9:g.105168014C>T	gnomAD
rs1181594275	p.Arg55Trp	missense variant	-	NC_000014.9:g.105168011G>A	TOPMed,gnomAD
rs1466089682	p.Arg55Gln	missense variant	-	NC_000014.9:g.105168010C>T	gnomAD
rs1181594275	p.Arg55Gly	missense variant	-	NC_000014.9:g.105168011G>C	TOPMed,gnomAD
rs1449421231	p.Thr56Ala	missense variant	-	NC_000014.9:g.105168008T>C	gnomAD
rs1242439634	p.Thr56Ile	missense variant	-	NC_000014.9:g.105168007G>A	gnomAD
rs766765476	p.Thr57Lys	missense variant	-	NC_000014.9:g.105168004G>T	ExAC,gnomAD
rs1360523089	p.Arg58His	missense variant	-	NC_000014.9:g.105168001C>T	TOPMed,gnomAD
rs750490578	p.Arg58Ser	missense variant	-	NC_000014.9:g.105168002G>T	ExAC,gnomAD
rs1360523089	p.Arg58Pro	missense variant	-	NC_000014.9:g.105168001C>G	TOPMed,gnomAD
rs767586602	p.Ala59Pro	missense variant	-	NC_000014.9:g.105167999C>G	ExAC,TOPMed,gnomAD
rs761963948	p.Ala59Val	missense variant	-	NC_000014.9:g.105167998G>A	ExAC,gnomAD
rs1289776029	p.Gly60Glu	missense variant	-	NC_000014.9:g.105167995C>T	TOPMed,gnomAD
rs149962192	p.Gly61Ala	missense variant	-	NC_000014.9:g.105167992C>G	ESP,ExAC,TOPMed,gnomAD
rs1424612515	p.Gly61Ser	missense variant	-	NC_000014.9:g.105167993C>T	TOPMed,gnomAD
rs149962192	p.Gly61Asp	missense variant	-	NC_000014.9:g.105167992C>T	ESP,ExAC,TOPMed,gnomAD
rs369874899	p.Gly63Val	missense variant	-	NC_000014.9:g.105167986C>A	ESP,ExAC,TOPMed,gnomAD
rs965974674	p.Gly63Ser	missense variant	-	NC_000014.9:g.105167987C>T	TOPMed
rs965974674	p.Gly63Cys	missense variant	-	NC_000014.9:g.105167987C>A	TOPMed
rs1364331833	p.His64Arg	missense variant	-	NC_000014.9:g.105167983T>C	gnomAD
rs770756897	p.Asp65Asn	missense variant	-	NC_000014.9:g.105167981C>T	ExAC,gnomAD
rs747031946	p.Asp65Gly	missense variant	-	NC_000014.9:g.105167980T>C	ExAC,gnomAD
rs1331749946	p.Asp68Glu	missense variant	-	NC_000014.9:g.105167970G>C	TOPMed
NCI-TCGA novel	p.Thr69Lys	missense variant	-	NC_000014.9:g.105167968G>T	NCI-TCGA
rs772783853	p.Val71Met	missense variant	-	NC_000014.9:g.105167963C>T	ExAC,gnomAD
rs771724492	p.Arg72His	missense variant	-	NC_000014.9:g.105167959C>T	ExAC,gnomAD
rs778743959	p.Lys76Gln	missense variant	-	NC_000014.9:g.105167948T>G	ExAC,gnomAD
rs754699224	p.Ala80Thr	missense variant	-	NC_000014.9:g.105167936C>T	ExAC,TOPMed,gnomAD
rs749594653	p.Lys81Glu	missense variant	-	NC_000014.9:g.105167933T>C	ExAC,gnomAD
rs1352686418	p.Pro84Leu	missense variant	-	NC_000014.9:g.105167923G>A	TOPMed
rs1018568467	p.Pro84Ala	missense variant	-	NC_000014.9:g.105167924G>C	TOPMed,gnomAD
rs1018568467	p.Pro84Ser	missense variant	-	NC_000014.9:g.105167924G>A	TOPMed,gnomAD
rs1296804632	p.Thr85Met	missense variant	-	NC_000014.9:g.105167920G>A	gnomAD
rs1203302825	p.Ser89Thr	missense variant	-	NC_000014.9:g.105167908C>G	TOPMed
rs1481516436	p.Gly91Ala	missense variant	-	NC_000014.9:g.105167902C>G	gnomAD
rs1285754373	p.His92Tyr	missense variant	-	NC_000014.9:g.105167900G>A	TOPMed,gnomAD
rs1300714747	p.Pro96Ser	missense variant	-	NC_000014.9:g.105167888G>A	gnomAD
rs750939514	p.Val97Met	missense variant	-	NC_000014.9:g.105167885C>T	ExAC,gnomAD
rs1408005800	p.Tyr104His	missense variant	-	NC_000014.9:g.105167864A>G	gnomAD
rs751674430	p.Tyr104Phe	missense variant	-	NC_000014.9:g.105167863T>A	ExAC
rs952412444	p.Pro106Ser	missense variant	-	NC_000014.9:g.105167858G>A	TOPMed
rs764196162	p.Pro106Leu	missense variant	-	NC_000014.9:g.105167857G>A	ExAC,gnomAD
rs763290949	p.Pro107Leu	missense variant	-	NC_000014.9:g.105167854G>A	ExAC,TOPMed,gnomAD
rs763290949	p.Pro107Arg	missense variant	-	NC_000014.9:g.105167854G>C	ExAC,TOPMed,gnomAD
rs776282805	p.Ala108Val	missense variant	-	NC_000014.9:g.105167851G>A	ExAC,gnomAD
rs766203604	p.Gly112Trp	missense variant	-	NC_000014.9:g.105167840C>A	ExAC,gnomAD
rs1188521450	p.Asp113Ala	missense variant	-	NC_000014.9:g.105167836T>G	TOPMed
rs1204007533	p.Arg114Gln	missense variant	-	NC_000014.9:g.105167833C>T	gnomAD
rs993856688	p.Ala115Pro	missense variant	-	NC_000014.9:g.105167831C>G	TOPMed
rs1265329908	p.Arg116Pro	missense variant	-	NC_000014.9:g.105167827C>G	gnomAD
rs896915608	p.Arg116Gly	missense variant	-	NC_000014.9:g.105167828G>C	TOPMed,gnomAD
rs1280880686	p.Arg120Gln	missense variant	-	NC_000014.9:g.105167815C>T	TOPMed,gnomAD
rs1280880686	p.Arg120Pro	missense variant	-	NC_000014.9:g.105167815C>G	TOPMed,gnomAD
rs1236670971	p.Arg120Trp	missense variant	-	NC_000014.9:g.105167816G>A	TOPMed
rs773308170	p.Ala121Val	missense variant	-	NC_000014.9:g.105167812G>A	ExAC,TOPMed,gnomAD
rs1013457771	p.Gly122Ser	missense variant	-	NC_000014.9:g.105167810C>T	TOPMed
rs1252278244	p.Asp124Gly	missense variant	-	NC_000014.9:g.105167803T>C	TOPMed
rs895046261	p.Asp124His	missense variant	-	NC_000014.9:g.105167804C>G	TOPMed,gnomAD
rs1055078136	p.Asp126Gly	missense variant	-	NC_000014.9:g.105167797T>C	TOPMed,gnomAD
rs904500344	p.Pro133Leu	missense variant	-	NC_000014.9:g.105167776G>A	TOPMed,gnomAD
rs904500344	p.Pro133Arg	missense variant	-	NC_000014.9:g.105167776G>C	TOPMed,gnomAD
rs1251260759	p.Ala137Ser	missense variant	-	NC_000014.9:g.105167765C>A	TOPMed,gnomAD
rs761901822	p.Arg140His	missense variant	-	NC_000014.9:g.105157762C>T	ExAC,TOPMed,gnomAD
rs746502121	p.Arg140Cys	missense variant	-	NC_000014.9:g.105157763G>A	TOPMed,gnomAD
rs761901822	p.Arg140Leu	missense variant	-	NC_000014.9:g.105157762C>A	ExAC,TOPMed,gnomAD
rs1384148730	p.Ser141Phe	missense variant	-	NC_000014.9:g.105157759G>A	gnomAD
rs1288433924	p.Thr143Ile	missense variant	-	NC_000014.9:g.105157753G>A	gnomAD
rs373741220	p.Ile145Met	missense variant	-	NC_000014.9:g.105157746G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs981793762	p.Val146Leu	missense variant	-	NC_000014.9:g.105157745C>G	TOPMed,gnomAD
rs981793762	p.Val146Met	missense variant	-	NC_000014.9:g.105157745C>T	TOPMed,gnomAD
COSM469726	p.Glu147Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105157742C>A	NCI-TCGA Cosmic
rs768219400	p.Ala148Val	missense variant	-	NC_000014.9:g.105157738G>A	ExAC,gnomAD
rs199687725	p.Trp149Arg	missense variant	-	NC_000014.9:g.105157736A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp150ThrPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.105157733C>-	NCI-TCGA
rs1329440023	p.Asn153Ser	missense variant	-	NC_000014.9:g.105157723T>C	gnomAD
rs1261630017	p.Asn153Asp	missense variant	-	NC_000014.9:g.105157724T>C	gnomAD
rs1490700973	p.Asp154Asn	missense variant	-	NC_000014.9:g.105157721C>T	TOPMed,gnomAD
COSM3689909	p.Asp154Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105157719A>T	NCI-TCGA Cosmic
rs1291806344	p.Thr156Ile	missense variant	-	NC_000014.9:g.105157714G>A	gnomAD
rs746204393	p.Pro157Leu	missense variant	-	NC_000014.9:g.105157711G>A	ExAC,TOPMed,gnomAD
rs755251181	p.Glu159Asp	missense variant	-	NC_000014.9:g.105155988C>A	ExAC,gnomAD
rs781078475	p.Glu160Val	missense variant	-	NC_000014.9:g.105155986T>A	ExAC,gnomAD
rs963780594	p.Glu160Asp	missense variant	-	NC_000014.9:g.105155985C>A	TOPMed,gnomAD
rs754120117	p.Glu160Ter	stop gained	-	NC_000014.9:g.105155987C>A	ExAC,gnomAD
rs996880451	p.Arg165Gln	missense variant	-	NC_000014.9:g.105155971C>T	TOPMed,gnomAD
rs751347948	p.Arg165Ter	stop gained	-	NC_000014.9:g.105155972G>A	ExAC,gnomAD
rs764065878	p.Ser167Leu	missense variant	-	NC_000014.9:g.105155965G>A	ExAC,TOPMed,gnomAD
rs375734605	p.Gly170Ser	missense variant	-	NC_000014.9:g.105155957C>T	ESP,ExAC,TOPMed,gnomAD
rs1329816871	p.Met171Val	missense variant	-	NC_000014.9:g.105155954T>C	gnomAD
rs764729652	p.Pro174Leu	missense variant	-	NC_000014.9:g.105155944G>A	ExAC,TOPMed,gnomAD
rs1243678677	p.Glu175Ala	missense variant	-	NC_000014.9:g.105155941T>G	TOPMed
rs766691203	p.Arg177Pro	missense variant	-	NC_000014.9:g.105155935C>G	ExAC,gnomAD
rs766691203	p.Arg177His	missense variant	-	NC_000014.9:g.105155935C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg177Gly	missense variant	-	NC_000014.9:g.105155936G>C	NCI-TCGA
rs776290172	p.Arg177Cys	missense variant	-	NC_000014.9:g.105155936G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys179Arg	missense variant	-	NC_000014.9:g.105155929T>C	NCI-TCGA
rs773498752	p.His182Arg	missense variant	-	NC_000014.9:g.105155920T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser184Asn	missense variant	-	NC_000014.9:g.105155914C>T	NCI-TCGA
rs748673922	p.Gly185Ser	missense variant	-	NC_000014.9:g.105155912C>T	ExAC,gnomAD
rs1331038208	p.Val187Met	missense variant	-	NC_000014.9:g.105155906C>T	gnomAD
rs1448629549	p.Ala188Thr	missense variant	-	NC_000014.9:g.105155903C>T	gnomAD
rs749478757	p.Ala188Val	missense variant	-	NC_000014.9:g.105155902G>A	ExAC,TOPMed,gnomAD
rs756337109	p.His189Tyr	missense variant	-	NC_000014.9:g.105155900G>A	ExAC,TOPMed,gnomAD
rs746802504	p.Glu191Ala	missense variant	-	NC_000014.9:g.105155893T>G	ExAC,gnomAD
rs1384032964	p.Leu192Val	missense variant	-	NC_000014.9:g.105155891G>C	gnomAD
rs200312179	p.Ile194Met	missense variant	-	NC_000014.9:g.105155883G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1389623306	p.Arg195His	missense variant	-	NC_000014.9:g.105155881C>T	TOPMed,gnomAD
rs1446530594	p.Arg195Cys	missense variant	-	NC_000014.9:g.105155882G>A	gnomAD
rs762674945	p.Val196Met	missense variant	-	NC_000014.9:g.105155879C>T	ExAC,gnomAD
rs753388124	p.Arg197His	missense variant	-	NC_000014.9:g.105155875C>T	ExAC,gnomAD
rs372506434	p.Asp199Glu	missense variant	-	NC_000014.9:g.105155868G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372506434	p.Asp199Glu	missense variant	-	NC_000014.9:g.105155868G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376948189	p.Asp199Asn	missense variant	-	NC_000014.9:g.105155870C>T	ESP,ExAC,TOPMed,gnomAD
rs762325915	p.Glu200Gly	missense variant	-	NC_000014.9:g.105155866T>C	ExAC,gnomAD
COSM1128305	p.Glu200Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105155867C>T	NCI-TCGA Cosmic
rs775767402	p.Ala205Thr	missense variant	-	NC_000014.9:g.105155852C>T	ExAC,gnomAD
rs1283922642	p.Ala205Val	missense variant	-	NC_000014.9:g.105155851G>A	gnomAD
rs1225059684	p.Lys209Glu	missense variant	-	NC_000014.9:g.105155840T>C	gnomAD
rs587724731	p.Arg212Trp	missense variant	-	NC_000014.9:g.105155831G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg212Gln	missense variant	-	NC_000014.9:g.105155830C>T	NCI-TCGA
rs1196090664	p.Pro213Ser	missense variant	-	NC_000014.9:g.105155828G>A	TOPMed
rs941391931	p.Arg214Cys	missense variant	-	NC_000014.9:g.105155825G>A	TOPMed
rs777565206	p.Arg214His	missense variant	-	NC_000014.9:g.105155824C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp216Tyr	missense variant	-	NC_000014.9:g.105155819C>A	NCI-TCGA
rs778791847	p.Asp216Asn	missense variant	-	NC_000014.9:g.105155819C>T	ExAC,gnomAD
rs1364555362	p.Gly219Ser	missense variant	-	NC_000014.9:g.105155810C>T	gnomAD
rs779500604	p.Asp224Asn	missense variant	-	NC_000014.9:g.105155795C>T	ExAC,gnomAD
rs1185892415	p.Gln225Arg	missense variant	-	NC_000014.9:g.105155791T>C	gnomAD
rs1246917762	p.Tyr226Phe	missense variant	-	NC_000014.9:g.105155788T>A	gnomAD
rs750060198	p.Ala230Val	missense variant	-	NC_000014.9:g.105155776G>A	ExAC,gnomAD
COSM6075205	p.Ala230Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105155777C>A	NCI-TCGA Cosmic
rs143241003	p.Met232Val	missense variant	-	NC_000014.9:g.105155771T>C	ESP,ExAC,gnomAD
rs1219572838	p.Asp233His	missense variant	-	NC_000014.9:g.105155768C>G	TOPMed,gnomAD
rs1219572838	p.Asp233Asn	missense variant	-	NC_000014.9:g.105155768C>T	TOPMed,gnomAD
rs1218606856	p.Gly234Ala	missense variant	-	NC_000014.9:g.105155764C>G	gnomAD
rs764681336	p.Gly234Ser	missense variant	-	NC_000014.9:g.105155765C>T	ExAC,gnomAD
rs763617840	p.Met236Val	missense variant	-	NC_000014.9:g.105155759T>C	ExAC,gnomAD
rs775644752	p.Met236Ile	missense variant	-	NC_000014.9:g.105155757C>T	ExAC,gnomAD
rs769776589	p.Gly237Asp	missense variant	-	NC_000014.9:g.105155755C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu239Gln	missense variant	-	NC_000014.9:g.105155750C>G	NCI-TCGA
rs1266484163	p.Glu242Lys	missense variant	-	NC_000014.9:g.105155741C>T	TOPMed
rs778233370	p.Val244Leu	missense variant	-	NC_000014.9:g.105155620C>G	ExAC,gnomAD
rs758863578	p.Gly248Trp	missense variant	-	NC_000014.9:g.105155608C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly254ArgPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.105155580_105155590GTGCATCCCCC>-	NCI-TCGA
rs1381052440	p.Gly254Arg	missense variant	-	NC_000014.9:g.105155590C>T	TOPMed
NCI-TCGA novel	p.Gly255AspPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.105155586C>-	NCI-TCGA
rs755567951	p.Gly255Glu	missense variant	-	NC_000014.9:g.105155586C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr257Ala	missense variant	-	NC_000014.9:g.105155581T>C	NCI-TCGA
COSM3494270	p.Thr257Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105155580G>A	NCI-TCGA Cosmic
rs766451706	p.Val258Met	missense variant	-	NC_000014.9:g.105155578C>T	ExAC,TOPMed,gnomAD
rs1384762219	p.Gly260Glu	missense variant	-	NC_000014.9:g.105155571C>T	gnomAD
rs773450420	p.Glu261Ala	missense variant	-	NC_000014.9:g.105155568T>G	ExAC,gnomAD
rs1255775295	p.Arg263Ser	missense variant	-	NC_000014.9:g.105152291C>G	gnomAD
rs1228127573	p.Ser265Asn	missense variant	-	NC_000014.9:g.105152286C>T	gnomAD
rs587732532	p.Tyr266His	missense variant	-	NC_000014.9:g.105152284A>G	1000Genomes,ExAC,gnomAD
rs1398238002	p.Gly267Ser	missense variant	-	NC_000014.9:g.105152281C>T	gnomAD
rs143376032	p.Asp274Asn	missense variant	-	NC_000014.9:g.105152260C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780509714	p.Asp274Val	missense variant	-	NC_000014.9:g.105152259T>A	ExAC,TOPMed,gnomAD
rs1323542723	p.Glu275Gly	missense variant	-	NC_000014.9:g.105152256T>C	gnomAD
rs756665068	p.Glu275Lys	missense variant	-	NC_000014.9:g.105152257C>T	ExAC,gnomAD
rs1466654312	p.Pro278Arg	missense variant	-	NC_000014.9:g.105152247G>C	gnomAD
rs1377648342	p.Gly281Ser	missense variant	-	NC_000014.9:g.105152239C>T	gnomAD
rs375084155	p.Val283Met	missense variant	-	NC_000014.9:g.105152233C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371109067	p.Ser286Asn	missense variant	-	NC_000014.9:g.105152223C>T	ESP,ExAC,TOPMed,gnomAD
rs1252478802	p.Ser286Gly	missense variant	-	NC_000014.9:g.105152224T>C	TOPMed,gnomAD
rs1363961305	p.Glu289Lys	missense variant	-	NC_000014.9:g.105152215C>T	TOPMed
rs760763117	p.Glu296Val	missense variant	-	NC_000014.9:g.105152193T>A	ExAC,gnomAD
rs61730146	p.Thr297Ile	missense variant	-	NC_000014.9:g.105152190G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs905867492	p.Gly300Asp	missense variant	-	NC_000014.9:g.105152181C>T	TOPMed,gnomAD
rs147670846	p.Gly301Ser	missense variant	-	NC_000014.9:g.105152179C>T	1000Genomes,ExAC
rs777781345	p.Asp307Glu	missense variant	-	NC_000014.9:g.105152056G>T	ExAC
rs920971798	p.His314Tyr	missense variant	-	NC_000014.9:g.105152037G>A	TOPMed,gnomAD
rs748394533	p.Pro316Ser	missense variant	-	NC_000014.9:g.105152031G>A	ExAC
NCI-TCGA novel	p.Pro316Thr	missense variant	-	NC_000014.9:g.105152031G>T	NCI-TCGA
NCI-TCGA novel	p.Cys317Phe	missense variant	-	NC_000014.9:g.105152027C>A	NCI-TCGA
rs1446414539	p.Asn319Asp	missense variant	-	NC_000014.9:g.105152022T>C	gnomAD
rs756008137	p.Gly320Arg	missense variant	-	NC_000014.9:g.105152019C>T	ExAC,TOPMed,gnomAD
rs767469145	p.Thr322Arg	missense variant	-	NC_000014.9:g.105152012G>C	ExAC,TOPMed,gnomAD
rs767469145	p.Thr322Met	missense variant	-	NC_000014.9:g.105152012G>A	ExAC,TOPMed,gnomAD
rs1412738203	p.Ala326Ser	missense variant	-	NC_000014.9:g.105152001C>A	TOPMed,gnomAD
rs1412738203	p.Ala326Thr	missense variant	-	NC_000014.9:g.105152001C>T	TOPMed,gnomAD
rs977973203	p.Ala326Val	missense variant	-	NC_000014.9:g.105152000G>A	gnomAD
rs762540989	p.Glu327Lys	missense variant	-	NC_000014.9:g.105151998C>T	ExAC,gnomAD
rs762540989	p.Glu327Gln	missense variant	-	NC_000014.9:g.105151998C>G	ExAC,gnomAD
NCI-TCGA novel	p.Pro328Ser	missense variant	-	NC_000014.9:g.105151995G>A	NCI-TCGA
NCI-TCGA novel	p.Pro328Leu	missense variant	-	NC_000014.9:g.105151994G>A	NCI-TCGA
rs775152211	p.Pro328Thr	missense variant	-	NC_000014.9:g.105151995G>T	ExAC,TOPMed,gnomAD
rs1261324215	p.Gln330Lys	missense variant	-	NC_000014.9:g.105151989G>T	gnomAD
rs776917434	p.Arg332Cys	missense variant	-	NC_000014.9:g.105151983G>A	ExAC,gnomAD
rs587684377	p.Arg332His	missense variant	-	NC_000014.9:g.105151982C>T	1000Genomes,TOPMed
rs776917434	p.Arg332Gly	missense variant	-	NC_000014.9:g.105151983G>C	ExAC,gnomAD
rs1289580698	p.Thr334Ser	missense variant	-	NC_000014.9:g.105151976G>C	gnomAD
rs747476120	p.Pro336Ala	missense variant	-	NC_000014.9:g.105151971G>C	ExAC,gnomAD
rs201502188	p.Asp337Val	missense variant	-	NC_000014.9:g.105151967T>A	ExAC,gnomAD
rs140609711	p.Gly338Ser	missense variant	-	NC_000014.9:g.105151965C>T	ESP,ExAC,TOPMed,gnomAD
rs779249026	p.Gly338Asp	missense variant	-	NC_000014.9:g.105151964C>T	ExAC,gnomAD
rs146825603	p.Tyr339Ter	stop gained	-	NC_000014.9:g.105151960G>C	ESP,ExAC,TOPMed,gnomAD
rs144763428	p.Ser340Leu	missense variant	-	NC_000014.9:g.105151958G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg342Met	missense variant	-	NC_000014.9:g.105151952C>A	NCI-TCGA
rs757157699	p.Glu345Gly	missense variant	-	NC_000014.9:g.105151943T>C	ExAC,gnomAD
rs751470399	p.Lys346Glu	missense variant	-	NC_000014.9:g.105151941T>C	ExAC,TOPMed,gnomAD
rs758385958	p.Ala347Val	missense variant	-	NC_000014.9:g.105151739G>A	ExAC,gnomAD
rs917861839	p.Ala350Thr	missense variant	-	NC_000014.9:g.105151731C>T	gnomAD
rs1381252367	p.Cys351Tyr	missense variant	-	NC_000014.9:g.105151727C>T	gnomAD
rs1466626036	p.Thr352Ile	missense variant	-	NC_000014.9:g.105151724G>A	gnomAD
rs1288561615	p.Asn354Asp	missense variant	-	NC_000014.9:g.105151719T>C	TOPMed
rs992002678	p.Pro355Ser	missense variant	-	NC_000014.9:g.105151716G>A	TOPMed
rs959430916	p.Pro355Leu	missense variant	-	NC_000014.9:g.105151715G>A	gnomAD
rs753456166	p.Asn358Ser	missense variant	-	NC_000014.9:g.105151706T>C	ExAC,TOPMed,gnomAD
COSM4049526	p.Gly359Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105151704C>T	NCI-TCGA Cosmic
rs1258891191	p.Gly360Asp	missense variant	-	NC_000014.9:g.105151700C>T	gnomAD
rs1417634272	p.Gly360Ser	missense variant	-	NC_000014.9:g.105151701C>T	gnomAD
rs1182903017	p.His363Pro	missense variant	-	NC_000014.9:g.105151691T>G	TOPMed,gnomAD
rs1182903017	p.His363Arg	missense variant	-	NC_000014.9:g.105151691T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu364Ala	missense variant	-	NC_000014.9:g.105151688T>G	NCI-TCGA
rs760917923	p.Glu364Gln	missense variant	-	NC_000014.9:g.105151689C>G	ExAC,gnomAD
rs1235214559	p.Pro366Ser	missense variant	-	NC_000014.9:g.105151683G>A	gnomAD
rs140813175	p.Pro366Leu	missense variant	-	NC_000014.9:g.105151682G>A	ESP,ExAC,TOPMed,gnomAD
rs1285129786	p.Ser367Pro	missense variant	-	NC_000014.9:g.105151680A>G	gnomAD
rs762480596	p.Ser367Tyr	missense variant	-	NC_000014.9:g.105151679G>T	ExAC,TOPMed,gnomAD
rs199655385	p.Gly368Ser	missense variant	-	NC_000014.9:g.105151677C>T	1000Genomes,gnomAD
rs1378590783	p.Glu370Lys	missense variant	-	NC_000014.9:g.105151671C>T	TOPMed,gnomAD
rs775542056	p.His372Gln	missense variant	-	NC_000014.9:g.105151663G>C	ExAC,gnomAD
NCI-TCGA novel	p.Cys373Ter	stop gained	-	NC_000014.9:g.105151660G>T	NCI-TCGA
rs200420004	p.Ser375Leu	missense variant	-	NC_000014.9:g.105151655G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs900639216	p.Gly379Arg	missense variant	-	NC_000014.9:g.105151644C>T	gnomAD
rs748090676	p.Ala383Val	missense variant	-	NC_000014.9:g.105151631G>A	ExAC,gnomAD
rs957348837	p.Ile386Phe	missense variant	-	NC_000014.9:g.105151394T>A	TOPMed
rs766629604	p.Ile386Met	missense variant	-	NC_000014.9:g.105151392G>C	ExAC,TOPMed,gnomAD
rs759627304	p.Ile386Thr	missense variant	-	NC_000014.9:g.105151393A>G	ExAC,gnomAD
rs761575707	p.Asp387Asn	missense variant	-	NC_000014.9:g.105151391C>T	ExAC,gnomAD
rs372331234	p.Ser391Leu	missense variant	-	NC_000014.9:g.105151378G>A	ESP,ExAC,gnomAD
rs749257698	p.Ser391Ala	missense variant	-	NC_000014.9:g.105151379A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser391Trp	missense variant	-	NC_000014.9:g.105151378G>C	NCI-TCGA
rs924643940	p.Asn392Ser	missense variant	-	NC_000014.9:g.105151375T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Cys394Tyr	missense variant	-	NC_000014.9:g.105151369C>T	NCI-TCGA
rs201180790	p.Ala395Val	missense variant	-	NC_000014.9:g.105151366G>A	TOPMed,gnomAD
rs780967753	p.Gly397Ser	missense variant	-	NC_000014.9:g.105151361C>T	ExAC,gnomAD
rs1448245264	p.Gly398Val	missense variant	-	NC_000014.9:g.105151357C>A	gnomAD
rs371092571	p.Asp402Glu	missense variant	-	NC_000014.9:g.105151344G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln403ArgPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.105151343G>-	NCI-TCGA
rs1360217815	p.Gln403Glu	missense variant	-	NC_000014.9:g.105151343G>C	gnomAD
NCI-TCGA novel	p.Val404Met	missense variant	-	NC_000014.9:g.105151340C>T	NCI-TCGA
rs1415695959	p.Val404Gly	missense variant	-	NC_000014.9:g.105151339A>C	gnomAD
rs376912303	p.Asp405Asn	missense variant	-	NC_000014.9:g.105151337C>T	ESP,ExAC,TOPMed,gnomAD
rs753268953	p.Gly406Ser	missense variant	-	NC_000014.9:g.105151334C>T	ExAC,gnomAD
rs1486443143	p.Gly406Asp	missense variant	-	NC_000014.9:g.105151333C>T	-
rs1438776049	p.Ile410Met	missense variant	-	NC_000014.9:g.105151320G>C	gnomAD
rs765191436	p.Ile410Asn	missense variant	-	NC_000014.9:g.105151321A>T	ExAC,gnomAD
rs1231116264	p.Cys411Ser	missense variant	-	NC_000014.9:g.105151319A>T	gnomAD
rs1444233637	p.Pro412Leu	missense variant	-	NC_000014.9:g.105151315G>A	gnomAD
rs1303581545	p.Glu413Gly	missense variant	-	NC_000014.9:g.105151312T>C	TOPMed
rs753968927	p.Glu413Lys	missense variant	-	NC_000014.9:g.105151313C>T	ExAC,gnomAD
rs760956324	p.Ala418Thr	missense variant	-	NC_000014.9:g.105151298C>T	ExAC,gnomAD
rs587736476	p.Gln421His	missense variant	-	NC_000014.9:g.105151287C>A	1000Genomes,ExAC,TOPMed
rs144248956	p.Asp423Glu	missense variant	-	NC_000014.9:g.105151103G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1373440249	p.Asn425Ser	missense variant	-	NC_000014.9:g.105151098T>C	TOPMed
rs1323844998	p.Asn425Asp	missense variant	-	NC_000014.9:g.105151099T>C	gnomAD
rs1413970538	p.Glu426Gln	missense variant	-	NC_000014.9:g.105151096C>G	TOPMed
rs1298677515	p.Glu426Asp	missense variant	-	NC_000014.9:g.105151094C>G	TOPMed
rs1402621689	p.Glu426Val	missense variant	-	NC_000014.9:g.105151095T>A	gnomAD
rs775949901	p.Gly429Arg	missense variant	-	NC_000014.9:g.105151087C>T	ExAC,gnomAD
rs770339410	p.Gly429Glu	missense variant	-	NC_000014.9:g.105151086C>T	ExAC,gnomAD
rs781134028	p.Lys430Ter	stop gained	-	NC_000014.9:g.105151084T>A	ExAC,gnomAD
rs1269150086	p.Pro431Ser	missense variant	-	NC_000014.9:g.105151081G>A	TOPMed
COSM697781	p.Cys432Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105151078A>G	NCI-TCGA Cosmic
rs1192363986	p.Ala435Gly	missense variant	-	NC_000014.9:g.105151068G>C	gnomAD
rs1278598790	p.Ala435Thr	missense variant	-	NC_000014.9:g.105151069C>T	TOPMed
rs1167125935	p.Phe436Ile	missense variant	-	NC_000014.9:g.105151066A>T	gnomAD
rs778809657	p.Ser437Tyr	missense variant	-	NC_000014.9:g.105151062G>T	ExAC,gnomAD
rs1258220612	p.Ser437Ala	missense variant	-	NC_000014.9:g.105151063A>C	gnomAD
rs1305200699	p.Lys439Glu	missense variant	-	NC_000014.9:g.105151057T>C	gnomAD
rs367891113	p.Gly444Ser	missense variant	-	NC_000014.9:g.105151042C>T	ESP,ExAC,gnomAD
rs1039776082	p.Pro451Gln	missense variant	-	NC_000014.9:g.105151020G>T	TOPMed,gnomAD
rs1377558417	p.Pro451Ser	missense variant	-	NC_000014.9:g.105151021G>A	gnomAD
rs1039776082	p.Pro451Leu	missense variant	-	NC_000014.9:g.105151020G>A	TOPMed,gnomAD
rs1377558417	p.Pro451Ala	missense variant	-	NC_000014.9:g.105151021G>C	gnomAD
NCI-TCGA novel	p.Ile456Met	missense variant	-	NC_000014.9:g.105151004G>C	NCI-TCGA
rs761480204	p.Asn457Thr	missense variant	-	NC_000014.9:g.105151002T>G	ExAC,gnomAD
rs1445781788	p.His459Tyr	missense variant	-	NC_000014.9:g.105150997G>A	TOPMed
rs1233996748	p.Val462Ile	missense variant	-	NC_000014.9:g.105150909C>T	gnomAD
rs748437262	p.Asp464Asn	missense variant	-	NC_000014.9:g.105150903C>T	ExAC,gnomAD
rs1402048628	p.Arg466Cys	missense variant	-	NC_000014.9:g.105150897G>A	gnomAD
rs769513887	p.Arg466Leu	missense variant	-	NC_000014.9:g.105150896C>A	ExAC,TOPMed,gnomAD
rs769513887	p.Arg466His	missense variant	-	NC_000014.9:g.105150896C>T	ExAC,TOPMed,gnomAD
rs757195573	p.Gly467Glu	missense variant	-	NC_000014.9:g.105150893C>T	ExAC,TOPMed,gnomAD
rs780937932	p.Gly467Arg	missense variant	-	NC_000014.9:g.105150894C>T	ExAC,TOPMed,gnomAD
rs1293052766	p.Gln468Arg	missense variant	-	NC_000014.9:g.105150890T>C	TOPMed,gnomAD
rs1166222349	p.Gln468Ter	stop gained	-	NC_000014.9:g.105150891G>A	gnomAD
rs1474610391	p.Cys469Arg	missense variant	-	NC_000014.9:g.105150888A>G	gnomAD
rs751068742	p.Gln470Arg	missense variant	-	NC_000014.9:g.105150884T>C	ExAC,gnomAD
rs1195457592	p.His471Tyr	missense variant	-	NC_000014.9:g.105150882G>A	gnomAD
rs1323315012	p.Gly473Ala	missense variant	-	NC_000014.9:g.105150875C>G	TOPMed
COSM1368668	p.Gly473AlaPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105150875C>-	NCI-TCGA Cosmic
rs1051683761	p.Thr474Ile	missense variant	-	NC_000014.9:g.105150872G>A	TOPMed
rs1391490907	p.Val479Leu	missense variant	-	NC_000014.9:g.105150771C>A	TOPMed,gnomAD
rs1391490907	p.Val479Leu	missense variant	-	NC_000014.9:g.105150771C>G	TOPMed,gnomAD
rs766823184	p.Gly481Ala	missense variant	-	NC_000014.9:g.105150764C>G	ExAC,TOPMed,gnomAD
rs754148151	p.Gly481Arg	missense variant	-	NC_000014.9:g.105150765C>T	ExAC,gnomAD
COSM1368667	p.Tyr482His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105150762A>G	NCI-TCGA Cosmic
rs1239962238	p.Cys486Arg	missense variant	-	NC_000014.9:g.105150750A>G	gnomAD
rs1239962238	p.Cys486Gly	missense variant	-	NC_000014.9:g.105150750A>C	gnomAD
COSM1368666	p.Cys486ProPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105150749_105150750CA>-	NCI-TCGA Cosmic
rs1438504072	p.Pro487Ser	missense variant	-	NC_000014.9:g.105150747G>A	gnomAD
rs1249879301	p.Pro487Leu	missense variant	-	NC_000014.9:g.105150746G>A	gnomAD
rs1281227558	p.Arg488Gln	missense variant	-	NC_000014.9:g.105150743C>T	gnomAD
rs140376952	p.Arg488Trp	missense variant	-	NC_000014.9:g.105150744G>A	ESP,ExAC,TOPMed,gnomAD
rs768166044	p.Gly489Ser	missense variant	-	NC_000014.9:g.105150741C>T	ExAC,gnomAD
rs774498617	p.Gly491Glu	missense variant	-	NC_000014.9:g.105150734C>T	ExAC,gnomAD
rs1312142151	p.Gly491Arg	missense variant	-	NC_000014.9:g.105150735C>T	TOPMed,gnomAD
rs764222488	p.Gly492Asp	missense variant	-	NC_000014.9:g.105150731C>T	ExAC,gnomAD
rs1011982956	p.Arg493Gln	missense variant	-	NC_000014.9:g.105150728C>T	TOPMed,gnomAD
rs763297305	p.Arg493Trp	missense variant	-	NC_000014.9:g.105150729G>A	ExAC,TOPMed,gnomAD
rs1381901642	p.Arg499Gln	missense variant	-	NC_000014.9:g.105150710C>T	TOPMed,gnomAD
COSM4645179	p.Arg499Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105150711G>A	NCI-TCGA Cosmic
rs1469548310	p.Asp500Gly	missense variant	-	NC_000014.9:g.105150707T>C	gnomAD
rs1159121482	p.Asp500His	missense variant	-	NC_000014.9:g.105150708C>G	gnomAD
rs1057744	p.Glu501Lys	missense variant	-	NC_000014.9:g.105150705C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772011326	p.Ala503Ser	missense variant	-	NC_000014.9:g.105150699C>A	ExAC
rs772011326	p.Ala503Pro	missense variant	-	NC_000014.9:g.105150699C>G	ExAC
rs1258517864	p.Ser505Thr	missense variant	-	NC_000014.9:g.105150692C>G	gnomAD
rs1025522353	p.Ser505Arg	missense variant	-	NC_000014.9:g.105150691G>T	gnomAD
rs1303484850	p.Cys507Trp	missense variant	-	NC_000014.9:g.105150685G>C	gnomAD
rs587717161	p.His508Gln	missense variant	-	NC_000014.9:g.105150682G>C	1000Genomes
rs370084908	p.His508Tyr	missense variant	-	NC_000014.9:g.105150684G>A	ESP,ExAC,TOPMed,gnomAD
rs374509372	p.Ser509Arg	missense variant	-	NC_000014.9:g.105150679G>T	ESP,ExAC,TOPMed,gnomAD
rs900977267	p.Gly510Ser	missense variant	-	NC_000014.9:g.105150678C>T	TOPMed,gnomAD
rs750836968	p.Gly511Ser	missense variant	-	NC_000014.9:g.105150675C>T	ExAC,gnomAD
rs777136611	p.Glu514Gln	missense variant	-	NC_000014.9:g.105150666C>G	TOPMed,gnomAD
rs777136611	p.Glu514Lys	missense variant	-	NC_000014.9:g.105150666C>T	TOPMed,gnomAD
rs1208478978	p.Asp515Gly	missense variant	-	NC_000014.9:g.105150662T>C	TOPMed
rs764287178	p.Leu516Val	missense variant	-	NC_000014.9:g.105150660G>C	ExAC,gnomAD
rs775742241	p.Asp518Tyr	missense variant	-	NC_000014.9:g.105150654C>A	ExAC,TOPMed,gnomAD
rs1164879706	p.Asp518Gly	missense variant	-	NC_000014.9:g.105150653T>C	gnomAD
rs775742241	p.Asp518Asn	missense variant	-	NC_000014.9:g.105150654C>T	ExAC,TOPMed,gnomAD
rs587681994	p.Gly519Ser	missense variant	-	NC_000014.9:g.105150651C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs909935223	p.Phe520Leu	missense variant	-	NC_000014.9:g.105150646G>T	TOPMed,gnomAD
rs760404529	p.His521Tyr	missense variant	-	NC_000014.9:g.105150645G>A	ExAC,gnomAD
rs1455862219	p.His523Gln	missense variant	-	NC_000014.9:g.105150637G>C	TOPMed
rs1446734193	p.Gly527Ser	missense variant	-	NC_000014.9:g.105150627C>T	gnomAD
rs939614949	p.Leu532Phe	missense variant	-	NC_000014.9:g.105150612G>A	TOPMed,gnomAD
rs1334971589	p.Leu532Arg	missense variant	-	NC_000014.9:g.105150611A>C	gnomAD
rs775139710	p.Val535Met	missense variant	-	NC_000014.9:g.105149320C>T	ExAC,gnomAD
rs9972231	p.Asp538Tyr	missense variant	-	NC_000014.9:g.105149311C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs9972231	p.Asp538Asn	missense variant	-	NC_000014.9:g.105149311C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs9972231	p.Asp538His	missense variant	-	NC_000014.9:g.105149311C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1175918632	p.Leu539Ile	missense variant	-	NC_000014.9:g.105149308G>T	gnomAD
rs747357583	p.Glu541Lys	missense variant	-	NC_000014.9:g.105149302C>T	ExAC,TOPMed,gnomAD
rs1395030058	p.Glu541Asp	missense variant	-	NC_000014.9:g.105149300C>G	gnomAD
rs747357583	p.Glu541Gln	missense variant	-	NC_000014.9:g.105149302C>G	ExAC,TOPMed,gnomAD
rs778287641	p.Pro542Leu	missense variant	-	NC_000014.9:g.105149298G>A	ExAC,TOPMed,gnomAD
rs1464684116	p.Pro542Ser	missense variant	-	NC_000014.9:g.105149299G>A	TOPMed
rs758834030	p.Ser543Asn	missense variant	-	NC_000014.9:g.105149295C>T	ExAC,gnomAD
rs754097964	p.Arg546Gln	missense variant	-	NC_000014.9:g.105149286C>T	ExAC,TOPMed,gnomAD
rs754097964	p.Arg546Leu	missense variant	-	NC_000014.9:g.105149286C>A	ExAC,TOPMed,gnomAD
rs755170630	p.Arg546Trp	missense variant	-	NC_000014.9:g.105149287G>A	ExAC,TOPMed,gnomAD
rs1346822922	p.Asn547His	missense variant	-	NC_000014.9:g.105149284T>G	gnomAD
rs761617021	p.Gly548Ser	missense variant	-	NC_000014.9:g.105149281C>T	ExAC,TOPMed,gnomAD
rs139834065	p.Ala549Ser	missense variant	-	NC_000014.9:g.105149278C>A	ESP,ExAC,TOPMed,gnomAD
rs139834065	p.Ala549Thr	missense variant	-	NC_000014.9:g.105149278C>T	ESP,ExAC,TOPMed,gnomAD
rs763048065	p.Ala549Gly	missense variant	-	NC_000014.9:g.105149277G>C	ExAC,gnomAD
rs1368959697	p.Arg550Cys	missense variant	-	NC_000014.9:g.105149275G>A	TOPMed,gnomAD
rs368871084	p.Arg550His	missense variant	-	NC_000014.9:g.105149274C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys551Tyr	missense variant	-	NC_000014.9:g.105149271C>T	NCI-TCGA
rs764883919	p.Tyr552Cys	missense variant	-	NC_000014.9:g.105149268T>C	ExAC,gnomAD
rs759150807	p.Asn553Ser	missense variant	-	NC_000014.9:g.105149265T>C	ExAC
rs770505012	p.Leu554Met	missense variant	-	NC_000014.9:g.105149263G>T	ExAC,TOPMed,gnomAD
rs1300547753	p.Glu555Gly	missense variant	-	NC_000014.9:g.105149259T>C	TOPMed
rs150669646	p.Gly556Asp	missense variant	-	NC_000014.9:g.105149256C>T	ESP,ExAC,TOPMed,gnomAD
rs747334360	p.Gly556Ser	missense variant	-	NC_000014.9:g.105149257C>T	ExAC,gnomAD
rs1265833738	p.Asp557Asn	missense variant	-	NC_000014.9:g.105149254C>T	TOPMed
COSM6139822	p.Asp557Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105149253T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys560AlaPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.105149245A>-	NCI-TCGA
rs755009089	p.Ala561Val	missense variant	-	NC_000014.9:g.105149241G>A	ExAC,TOPMed,gnomAD
rs778932650	p.Ala561Thr	missense variant	-	NC_000014.9:g.105149242C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp564His	missense variant	-	NC_000014.9:g.105149233C>G	NCI-TCGA
COSM1293513	p.Asp564Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105149233C>T	NCI-TCGA Cosmic
rs1317445850	p.Gly567Ala	missense variant	-	NC_000014.9:g.105149223C>G	gnomAD
rs780261848	p.Gly567Cys	missense variant	-	NC_000014.9:g.105149224C>A	ExAC,gnomAD
rs780261848	p.Gly567Arg	missense variant	-	NC_000014.9:g.105149224C>G	ExAC,gnomAD
rs1306124347	p.Gly568Asp	missense variant	-	NC_000014.9:g.105149220C>T	gnomAD
rs1223310872	p.Lys569Glu	missense variant	-	NC_000014.9:g.105149218T>C	gnomAD
rs374569282	p.Val573Leu	missense variant	-	NC_000014.9:g.105149206C>G	ESP,ExAC,TOPMed,gnomAD
rs374569282	p.Val573Met	missense variant	-	NC_000014.9:g.105149206C>T	ESP,ExAC,TOPMed,gnomAD
rs867096277	p.Pro574Leu	missense variant	-	NC_000014.9:g.105149202G>A	TOPMed
rs752646275	p.Arg575His	missense variant	-	NC_000014.9:g.105149199C>T	ExAC,TOPMed,gnomAD
rs1375288713	p.Arg575Cys	missense variant	-	NC_000014.9:g.105149200G>A	TOPMed,gnomAD
rs202068896	p.Glu576Lys	missense variant	-	NC_000014.9:g.105149197C>T	gnomAD
rs776012109	p.Glu576Asp	missense variant	-	NC_000014.9:g.105149195C>A	ExAC,gnomAD
rs1455218970	p.Pro577Leu	missense variant	-	NC_000014.9:g.105149193G>A	gnomAD
rs1347794537	p.Pro579Ser	missense variant	-	NC_000014.9:g.105149188G>A	gnomAD
rs1188286974	p.Gly580Ala	missense variant	-	NC_000014.9:g.105149184C>G	gnomAD
rs773603425	p.Gly581Arg	missense variant	-	NC_000014.9:g.105149182C>T	ExAC,TOPMed,gnomAD
rs772466320	p.Gly581Glu	missense variant	-	NC_000014.9:g.105149181C>T	ExAC,gnomAD
rs748542274	p.Ala582Ser	missense variant	-	NC_000014.9:g.105149179C>A	ExAC,TOPMed,gnomAD
rs748542274	p.Ala582Thr	missense variant	-	NC_000014.9:g.105149179C>T	ExAC,TOPMed,gnomAD
rs755527510	p.Val585Ala	missense variant	-	NC_000014.9:g.105149089A>G	ExAC,gnomAD
rs755527510	p.Val585Gly	missense variant	-	NC_000014.9:g.105149089A>C	ExAC,gnomAD
rs749960695	p.Ile586Thr	missense variant	-	NC_000014.9:g.105149086A>G	ExAC,TOPMed,gnomAD
rs1299575666	p.Ile586Val	missense variant	-	NC_000014.9:g.105149087T>C	gnomAD
rs142004780	p.Ile586Met	missense variant	-	NC_000014.9:g.105149085G>C	ESP,ExAC,TOPMed,gnomAD
rs764488533	p.Asp587Asn	missense variant	-	NC_000014.9:g.105149084C>T	ExAC,gnomAD
rs1395642327	p.Cys589Tyr	missense variant	-	NC_000014.9:g.105149077C>T	gnomAD
rs775816083	p.Gly590Arg	missense variant	-	NC_000014.9:g.105149075C>T	ExAC,TOPMed,gnomAD
rs1033736151	p.Gly590Glu	missense variant	-	NC_000014.9:g.105149074C>T	TOPMed,gnomAD
rs200911938	p.Asp592Glu	missense variant	-	NC_000014.9:g.105149067G>C	1000Genomes,ExAC,gnomAD
rs1481082995	p.Asp592Val	missense variant	-	NC_000014.9:g.105149068T>A	gnomAD
rs776919684	p.Ala593Thr	missense variant	-	NC_000014.9:g.105149066C>T	ExAC,gnomAD
rs138503062	p.Ala593Val	missense variant	-	NC_000014.9:g.105149065G>A	ESP,ExAC,TOPMed,gnomAD
rs145627661	p.Pro595Ser	missense variant	-	NC_000014.9:g.105149060G>A	ESP,ExAC,TOPMed,gnomAD
rs1308515148	p.Gly596Arg	missense variant	-	NC_000014.9:g.105149057C>T	gnomAD
rs141987287	p.Met597Ile	missense variant	-	NC_000014.9:g.105149052C>T	ESP,ExAC,TOPMed,gnomAD
rs768295543	p.Met597Thr	missense variant	-	NC_000014.9:g.105149053A>G	ExAC,gnomAD
rs1305746851	p.Pro598Arg	missense variant	-	NC_000014.9:g.105149050G>C	TOPMed,gnomAD
rs1436395219	p.Gly599Ser	missense variant	-	NC_000014.9:g.105149048C>T	gnomAD
rs369686885	p.Thr600Ile	missense variant	-	NC_000014.9:g.105149044G>A	ESP,ExAC,TOPMed,gnomAD
rs756081648	p.Thr600Pro	missense variant	-	NC_000014.9:g.105149045T>G	ExAC,gnomAD
rs1365397948	p.Ala601Val	missense variant	-	NC_000014.9:g.105149041G>A	TOPMed,gnomAD
rs902068343	p.Ala602Val	missense variant	-	NC_000014.9:g.105149038G>A	TOPMed
rs756878817	p.Ala602Thr	missense variant	-	NC_000014.9:g.105149039C>T	ExAC,gnomAD
rs201468009	p.Gly604Ser	missense variant	-	NC_000014.9:g.105149033C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758633950	p.Gly604Asp	missense variant	-	NC_000014.9:g.105149032C>T	ExAC,gnomAD
rs1020191973	p.Val605Leu	missense variant	-	NC_000014.9:g.105149030C>A	gnomAD
rs1020191973	p.Val605Met	missense variant	-	NC_000014.9:g.105149030C>T	gnomAD
rs1239167077	p.Cys606Arg	missense variant	-	NC_000014.9:g.105149027A>G	gnomAD
rs888811590	p.Pro608Ala	missense variant	-	NC_000014.9:g.105149021G>C	TOPMed
rs776831662	p.His609Arg	missense variant	-	NC_000014.9:g.105149017T>C	ExAC,gnomAD
rs1416221890	p.Arg611Cys	missense variant	-	NC_000014.9:g.105149012G>A	gnomAD
rs1355920809	p.Arg611His	missense variant	-	NC_000014.9:g.105149011C>T	TOPMed,gnomAD
rs1387069904	p.Val613Ala	missense variant	-	NC_000014.9:g.105149005A>G	gnomAD
rs760867387	p.Val613Ile	missense variant	-	NC_000014.9:g.105149006C>T	ExAC,TOPMed,gnomAD
rs1411299647	p.Gln615His	missense variant	-	NC_000014.9:g.105148998C>A	gnomAD
rs748968285	p.Pro616Leu	missense variant	-	NC_000014.9:g.105148996G>A	ExAC,gnomAD
rs1297492974	p.Gly618Asp	missense variant	-	NC_000014.9:g.105148990C>T	TOPMed
rs769600514	p.Asn619Ile	missense variant	-	NC_000014.9:g.105148987T>A	ExAC,TOPMed,gnomAD
rs769600514	p.Asn619Ser	missense variant	-	NC_000014.9:g.105148987T>C	ExAC,TOPMed,gnomAD
rs745852907	p.Phe620Ile	missense variant	-	NC_000014.9:g.105148985A>T	ExAC,TOPMed,gnomAD
rs1466040675	p.Asp625Ala	missense variant	-	NC_000014.9:g.105148969T>G	TOPMed
rs1441001145	p.Asp625Asn	missense variant	-	NC_000014.9:g.105148970C>T	gnomAD
rs756710036	p.Thr629Ile	missense variant	-	NC_000014.9:g.105148957G>A	ExAC,gnomAD
rs1036126953	p.Thr631Ile	missense variant	-	NC_000014.9:g.105148951G>A	TOPMed
rs777344172	p.His634Arg	missense variant	-	NC_000014.9:g.105148942T>C	ExAC,gnomAD
rs1232372334	p.Glu635Asp	missense variant	-	NC_000014.9:g.105148938C>G	gnomAD
rs1445576753	p.Asn636Asp	missense variant	-	NC_000014.9:g.105148937T>C	TOPMed,gnomAD
rs747877068	p.Asn636Ser	missense variant	-	NC_000014.9:g.105148858T>C	ExAC
rs778463008	p.Ile637Thr	missense variant	-	NC_000014.9:g.105148855A>G	ExAC,gnomAD
rs1388889683	p.Ile637Val	missense variant	-	NC_000014.9:g.105148856T>C	gnomAD
rs1245611798	p.Asp639Asn	missense variant	-	NC_000014.9:g.105148850C>T	TOPMed,gnomAD
rs754267020	p.Pro644Ser	missense variant	-	NC_000014.9:g.105148835G>A	ExAC,gnomAD
COSM3494267	p.Pro644Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105148834G>A	NCI-TCGA Cosmic
rs750513994	p.Arg646Leu	missense variant	-	NC_000014.9:g.105148828C>A	ExAC,TOPMed,gnomAD
rs750513994	p.Arg646His	missense variant	-	NC_000014.9:g.105148828C>T	ExAC,TOPMed,gnomAD
rs1339757937	p.Arg646Cys	missense variant	-	NC_000014.9:g.105148829G>A	gnomAD
rs1309976434	p.Asn647His	missense variant	-	NC_000014.9:g.105148826T>G	TOPMed
rs1348737431	p.Asn647Ser	missense variant	-	NC_000014.9:g.105148825T>C	TOPMed
rs1274334288	p.Gly648Glu	missense variant	-	NC_000014.9:g.105148822C>T	gnomAD
NCI-TCGA novel	p.Thr650Ala	missense variant	-	NC_000014.9:g.105148817T>C	NCI-TCGA
rs1285010327	p.Ile652Thr	missense variant	-	NC_000014.9:g.105148810A>G	TOPMed
rs1308819366	p.Asp653Asn	missense variant	-	NC_000014.9:g.105148808C>T	gnomAD
rs770845911	p.Glu654Gly	missense variant	-	NC_000014.9:g.105148804T>C	ExAC,TOPMed,gnomAD
rs375091434	p.Glu654Asp	missense variant	-	NC_000014.9:g.105148803C>A	ESP,ExAC,TOPMed,gnomAD
rs1455079771	p.Val655Leu	missense variant	-	NC_000014.9:g.105148802C>G	gnomAD
rs149164867	p.Ala657Ser	missense variant	-	NC_000014.9:g.105148796C>A	ESP,ExAC,TOPMed,gnomAD
rs1470853101	p.Ala657Val	missense variant	-	NC_000014.9:g.105148795G>A	gnomAD
rs149164867	p.Ala657Thr	missense variant	-	NC_000014.9:g.105148796C>T	ESP,ExAC,TOPMed,gnomAD
rs747635489	p.Arg659Pro	missense variant	-	NC_000014.9:g.105148789C>G	ExAC,TOPMed,gnomAD
rs771572871	p.Arg659Cys	missense variant	-	NC_000014.9:g.105148790G>A	ExAC,gnomAD
rs747635489	p.Arg659His	missense variant	-	NC_000014.9:g.105148789C>T	ExAC,TOPMed,gnomAD
rs1282186369	p.Phe661Leu	missense variant	-	NC_000014.9:g.105148784A>G	gnomAD
rs587721157	p.Ser664Arg	missense variant	-	NC_000014.9:g.105148773G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs768425653	p.Gly665Ser	missense variant	-	NC_000014.9:g.105148772C>T	ExAC,gnomAD
rs756663404	p.Glu669Lys	missense variant	-	NC_000014.9:g.105148760C>T	ExAC,TOPMed,gnomAD
rs1467312256	p.Leu670Phe	missense variant	-	NC_000014.9:g.105148757G>A	gnomAD
rs1466818903	p.Asn674Asp	missense variant	-	NC_000014.9:g.105148745T>C	TOPMed,gnomAD
rs1245827938	p.Asn676Thr	missense variant	-	NC_000014.9:g.105148433T>G	TOPMed
rs755882771	p.Asp677Asn	missense variant	-	NC_000014.9:g.105148431C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys678Tyr	missense variant	-	NC_000014.9:g.105148427C>T	NCI-TCGA
rs200708284	p.Pro682Ser	missense variant	-	NC_000014.9:g.105148416G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199665255	p.Arg686His	missense variant	-	NC_000014.9:g.105148403C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs78154277	p.Arg688His	missense variant	-	NC_000014.9:g.105148397C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762580032	p.Arg688Ser	missense variant	-	NC_000014.9:g.105148398G>T	ExAC,TOPMed,gnomAD
rs762580032	p.Arg688Cys	missense variant	-	NC_000014.9:g.105148398G>A	ExAC,TOPMed,gnomAD
rs769580566	p.Tyr690Cys	missense variant	-	NC_000014.9:g.105148391T>C	ExAC,gnomAD
rs1036082565	p.Asp691Asn	missense variant	-	NC_000014.9:g.105148389C>T	TOPMed
rs1449795679	p.Asn694Ser	missense variant	-	NC_000014.9:g.105148379T>C	gnomAD
rs373548790	p.Ala699Val	missense variant	-	NC_000014.9:g.105148364G>A	ESP,ExAC,TOPMed,gnomAD
rs192887377	p.Asp701Asn	missense variant	-	NC_000014.9:g.105148359C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1380949806	p.Asp701Gly	missense variant	-	NC_000014.9:g.105148358T>C	TOPMed
rs369752703	p.Asp702Glu	missense variant	-	NC_000014.9:g.105148354G>T	ESP,ExAC,TOPMed,gnomAD
rs1263849520	p.Asp702Asn	missense variant	-	NC_000014.9:g.105148356C>T	gnomAD
rs755220428	p.Gly703Ser	missense variant	-	NC_000014.9:g.105148353C>T	ExAC,TOPMed,gnomAD
rs1297570405	p.Trp704Ter	stop gained	-	NC_000014.9:g.105148348C>T	gnomAD
rs1226816745	p.Lys707Asn	missense variant	-	NC_000014.9:g.105148339C>G	gnomAD
rs200164540	p.Thr708Pro	missense variant	-	NC_000014.9:g.105148338T>G	ExAC,gnomAD
rs767265013	p.His710Asp	missense variant	-	NC_000014.9:g.105148332G>C	ExAC,gnomAD
rs764146079	p.Arg712Ser	missense variant	-	NC_000014.9:g.105148326G>T	ExAC,gnomAD
rs764146079	p.Arg712Gly	missense variant	-	NC_000014.9:g.105148326G>C	ExAC,gnomAD
rs764146079	p.Arg712Cys	missense variant	-	NC_000014.9:g.105148326G>A	ExAC,gnomAD
rs368186766	p.Glu713Lys	missense variant	-	NC_000014.9:g.105148227C>T	ESP,ExAC,TOPMed,gnomAD
rs760964337	p.Asp717Asn	missense variant	-	NC_000014.9:g.105148215C>T	ExAC,gnomAD
rs865846454	p.Ala718Asp	missense variant	-	NC_000014.9:g.105148211G>T	gnomAD
rs865846454	p.Ala718Val	missense variant	-	NC_000014.9:g.105148211G>A	gnomAD
rs772553694	p.Thr720Ile	missense variant	-	NC_000014.9:g.105148205G>A	ExAC,gnomAD
rs1457790153	p.Ser722Gly	missense variant	-	NC_000014.9:g.105148200T>C	gnomAD
rs1411544359	p.Ser722Thr	missense variant	-	NC_000014.9:g.105148199C>G	gnomAD
COSM1368663	p.Gly724Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105148194C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Tyr728His	missense variant	-	NC_000014.9:g.105148182A>G	NCI-TCGA
rs748663129	p.Asp729Asn	missense variant	-	NC_000014.9:g.105148179C>T	TOPMed,gnomAD
rs932145268	p.Ser730Asn	missense variant	-	NC_000014.9:g.105148175C>T	TOPMed,gnomAD
rs1410536213	p.Gly731Asp	missense variant	-	NC_000014.9:g.105148172C>T	TOPMed
rs1351039543	p.Thr733Ile	missense variant	-	NC_000014.9:g.105148166G>A	TOPMed
rs1356866025	p.Phe734Leu	missense variant	-	NC_000014.9:g.105148164A>G	gnomAD
rs587744246	p.Arg735His	missense variant	-	NC_000014.9:g.105148160C>T	1000Genomes,ExAC,gnomAD
rs587744246	p.Arg735Leu	missense variant	-	NC_000014.9:g.105148160C>A	1000Genomes,ExAC,gnomAD
rs1242260489	p.Arg735Cys	missense variant	-	NC_000014.9:g.105148161G>A	gnomAD
rs746789751	p.Ala737Thr	missense variant	-	NC_000014.9:g.105148155C>T	ExAC,TOPMed,gnomAD
rs1318854965	p.Pro739Thr	missense variant	-	NC_000014.9:g.105148149G>T	TOPMed,gnomAD
rs1318854965	p.Pro739Ser	missense variant	-	NC_000014.9:g.105148149G>A	TOPMed,gnomAD
rs1391639850	p.Pro740Ser	missense variant	-	NC_000014.9:g.105148146G>A	TOPMed,gnomAD
rs1391639850	p.Pro740Ala	missense variant	-	NC_000014.9:g.105148146G>C	TOPMed,gnomAD
rs587665180	p.Gly741Ser	missense variant	-	NC_000014.9:g.105148143C>T	1000Genomes,ExAC,TOPMed
NCI-TCGA novel	p.Gly741ArgPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.105148143_105148144insG	NCI-TCGA
COSM1368662	p.Gly741AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105148144G>-	NCI-TCGA Cosmic
rs1471987814	p.Ser745Asn	missense variant	-	NC_000014.9:g.105148130C>T	gnomAD
rs1312757405	p.Cys747Gly	missense variant	-	NC_000014.9:g.105148125A>C	gnomAD
rs1245656148	p.Ala748Gly	missense variant	-	NC_000014.9:g.105148121G>C	gnomAD
rs587630711	p.Ala748Thr	missense variant	-	NC_000014.9:g.105148122C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778931774	p.Val749Ile	missense variant	-	NC_000014.9:g.105148119C>T	ExAC,TOPMed,gnomAD
rs1207872653	p.Ala750Pro	missense variant	-	NC_000014.9:g.105148116C>G	gnomAD
rs1207872653	p.Ala750Thr	missense variant	-	NC_000014.9:g.105148116C>T	gnomAD
rs1473371622	p.Asn752Lys	missense variant	-	NC_000014.9:g.105147881G>T	gnomAD
rs979740332	p.Ser754Thr	missense variant	-	NC_000014.9:g.105147876C>G	TOPMed
rs1489880506	p.Pro757Leu	missense variant	-	NC_000014.9:g.105147867G>A	TOPMed
rs767175421	p.Pro759Ser	missense variant	-	NC_000014.9:g.105147862G>A	ExAC,gnomAD
rs767175421	p.Pro759Thr	missense variant	-	NC_000014.9:g.105147862G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly764Ser	missense variant	-	NC_000014.9:g.105147847C>T	NCI-TCGA
rs1210704034	p.Thr765Ile	missense variant	-	NC_000014.9:g.105147843G>A	gnomAD
rs757555592	p.Val767Leu	missense variant	-	NC_000014.9:g.105147838C>A	ExAC,TOPMed,gnomAD
rs757555592	p.Val767Met	missense variant	-	NC_000014.9:g.105147838C>T	ExAC,TOPMed,gnomAD
rs1289173904	p.Gly770Glu	missense variant	-	NC_000014.9:g.105147828C>T	gnomAD
rs999556315	p.Gly770Arg	missense variant	-	NC_000014.9:g.105147829C>T	TOPMed,gnomAD
rs968375799	p.Ala771Val	missense variant	-	NC_000014.9:g.105147825G>A	TOPMed
rs1371600882	p.Phe773Leu	missense variant	-	NC_000014.9:g.105147820A>G	gnomAD
rs1452922654	p.Arg778Trp	missense variant	-	NC_000014.9:g.105147805G>A	TOPMed
rs764502347	p.Arg778Gln	missense variant	-	NC_000014.9:g.105147804C>T	ExAC,TOPMed,gnomAD
rs763566089	p.Asp779Asn	missense variant	-	NC_000014.9:g.105147802C>T	ExAC,TOPMed,gnomAD
rs763566089	p.Asp779His	missense variant	-	NC_000014.9:g.105147802C>G	ExAC,TOPMed,gnomAD
rs776936125	p.Arg784His	missense variant	-	NC_000014.9:g.105147786C>T	ExAC,TOPMed,gnomAD
rs759715810	p.Arg784Gly	missense variant	-	NC_000014.9:g.105147787G>C	ExAC,gnomAD
rs759715810	p.Arg784Cys	missense variant	-	NC_000014.9:g.105147787G>A	ExAC,gnomAD
rs1415685791	p.Thr785Ile	missense variant	-	NC_000014.9:g.105147783G>A	gnomAD
rs1415685791	p.Thr785Ser	missense variant	-	NC_000014.9:g.105147783G>C	gnomAD
rs1393483317	p.Thr787Ser	missense variant	-	NC_000014.9:g.105147777G>C	TOPMed
NCI-TCGA novel	p.Asn789IlePheSerTerUnkUnk	frameshift	-	NC_000014.9:g.105147527T>-	NCI-TCGA
rs587604451	p.Thr790Ser	missense variant	-	NC_000014.9:g.105147524G>C	1000Genomes,ExAC,gnomAD
rs587604451	p.Thr790Ile	missense variant	-	NC_000014.9:g.105147524G>A	1000Genomes,ExAC,gnomAD
rs762673903	p.Asp792Asn	missense variant	-	NC_000014.9:g.105147519C>T	ExAC,gnomAD
rs1427001306	p.Pro795Leu	missense variant	-	NC_000014.9:g.105147509G>A	gnomAD
rs1016254644	p.Leu796Pro	missense variant	-	NC_000014.9:g.105147506A>G	TOPMed
rs1334001012	p.Pro797Leu	missense variant	-	NC_000014.9:g.105147503G>A	gnomAD
rs1232151804	p.Gly801Ser	missense variant	-	NC_000014.9:g.105147404C>T	gnomAD
rs1234895620	p.Cys804Phe	missense variant	-	NC_000014.9:g.105147394C>A	TOPMed
rs754355027	p.Val805Phe	missense variant	-	NC_000014.9:g.105147392C>A	ExAC,gnomAD
rs756157030	p.Gly807Ser	missense variant	-	NC_000014.9:g.105147386C>T	ExAC,gnomAD
rs756157030	p.Gly807Cys	missense variant	-	NC_000014.9:g.105147386C>A	ExAC,gnomAD
rs757478096	p.Val808Ile	missense variant	-	NC_000014.9:g.105147383C>T	ExAC,TOPMed,gnomAD
rs757478096	p.Val808Leu	missense variant	-	NC_000014.9:g.105147383C>G	ExAC,TOPMed,gnomAD
rs1402726653	p.Arg812Cys	missense variant	-	NC_000014.9:g.105147371G>A	gnomAD
rs775717962	p.Arg812His	missense variant	-	NC_000014.9:g.105147370C>T	TOPMed,gnomAD
rs142542373	p.Glu814Lys	missense variant	-	NC_000014.9:g.105147365C>T	1000Genomes,ESP,TOPMed,gnomAD
rs759349737	p.Ala816Pro	missense variant	-	NC_000014.9:g.105147359C>G	ExAC,TOPMed,gnomAD
rs776494612	p.Ala816Val	missense variant	-	NC_000014.9:g.105147358G>A	ExAC,TOPMed,gnomAD
rs1363736087	p.Pro817Ser	missense variant	-	NC_000014.9:g.105147356G>A	gnomAD
rs148440032	p.Ala820Val	missense variant	-	NC_000014.9:g.105147346G>A	ESP,ExAC,TOPMed,gnomAD
rs760231337	p.Ala820Thr	missense variant	-	NC_000014.9:g.105147347C>T	ExAC,TOPMed,gnomAD
rs747845875	p.Arg825His	missense variant	-	NC_000014.9:g.105147331C>T	ExAC,gnomAD
rs1459726266	p.Arg825Cys	missense variant	-	NC_000014.9:g.105147332G>A	gnomAD
rs1208822278	p.Ile826Phe	missense variant	-	NC_000014.9:g.105147329T>A	TOPMed,gnomAD
rs1208822278	p.Ile826Val	missense variant	-	NC_000014.9:g.105147329T>C	TOPMed,gnomAD
rs1325900570	p.Ile828Val	missense variant	-	NC_000014.9:g.105146722T>C	TOPMed,gnomAD
rs772751472	p.Asp829Asn	missense variant	-	NC_000014.9:g.105146719C>T	ExAC,TOPMed,gnomAD
rs1160488192	p.Glu830Lys	missense variant	-	NC_000014.9:g.105146716C>T	TOPMed
NCI-TCGA novel	p.Cys831Ter	stop gained	-	NC_000014.9:g.105146711_105146712insGCAGATTTTAGGAGCTTTTCTTTTTT	NCI-TCGA
rs766900929	p.Gln832Arg	missense variant	-	NC_000014.9:g.105146709T>C	ExAC,TOPMed,gnomAD
rs761428298	p.Ser833Phe	missense variant	-	NC_000014.9:g.105146706G>A	ExAC,gnomAD
rs768425270	p.Ser834Leu	missense variant	-	NC_000014.9:g.105146703G>A	ExAC,TOPMed,gnomAD
rs1452046563	p.Cys836Tyr	missense variant	-	NC_000014.9:g.105146697C>T	gnomAD
rs775775134	p.Ala837Asp	missense variant	-	NC_000014.9:g.105146694G>T	ExAC,TOPMed,gnomAD
rs775775134	p.Ala837Val	missense variant	-	NC_000014.9:g.105146694G>A	ExAC,TOPMed,gnomAD
rs1276348762	p.Tyr838His	missense variant	-	NC_000014.9:g.105146692A>G	TOPMed
rs770311465	p.Tyr838Cys	missense variant	-	NC_000014.9:g.105146691T>C	ExAC,gnomAD
rs781734780	p.Gly839Arg	missense variant	-	NC_000014.9:g.105146689C>T	ExAC,TOPMed,gnomAD
rs757271289	p.Thr841Met	missense variant	-	NC_000014.9:g.105146682G>A	ExAC,TOPMed,gnomAD
rs1346301021	p.Gly848Arg	missense variant	-	NC_000014.9:g.105146662C>T	gnomAD
COSM3494266	p.Tyr849Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.105146657A>C	NCI-TCGA Cosmic
rs191336412	p.Arg850His	missense variant	-	NC_000014.9:g.105146655C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1303059425	p.Arg850Cys	missense variant	-	NC_000014.9:g.105146656G>A	TOPMed,gnomAD
rs1372762153	p.Ser852Thr	missense variant	-	NC_000014.9:g.105146649C>G	TOPMed,gnomAD
rs755972228	p.Pro855Ser	missense variant	-	NC_000014.9:g.105146641G>A	ExAC,gnomAD
rs761335978	p.Gly856Cys	missense variant	-	NC_000014.9:g.105146638C>A	ExAC,TOPMed,gnomAD
rs761335978	p.Gly856Ser	missense variant	-	NC_000014.9:g.105146638C>T	ExAC,TOPMed,gnomAD
rs955582544	p.Gly856Val	missense variant	-	NC_000014.9:g.105146637C>A	TOPMed
rs751178572	p.Arg857Gln	missense variant	-	NC_000014.9:g.105146634C>T	ExAC,TOPMed,gnomAD
rs1478063128	p.Arg857Gly	missense variant	-	NC_000014.9:g.105146635G>C	gnomAD
rs751178572	p.Arg857Pro	missense variant	-	NC_000014.9:g.105146634C>G	ExAC,TOPMed,gnomAD
rs762743592	p.Gly859Ser	missense variant	-	NC_000014.9:g.105146629C>T	ExAC,TOPMed,gnomAD
rs1407223036	p.Pro860Thr	missense variant	-	NC_000014.9:g.105146626G>T	TOPMed
rs775891111	p.Pro860Leu	missense variant	-	NC_000014.9:g.105146625G>A	ExAC,TOPMed,gnomAD
rs146384529	p.Arg861Trp	missense variant	-	NC_000014.9:g.105146623G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146384529	p.Arg861Gly	missense variant	-	NC_000014.9:g.105146623G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142270463	p.Arg861Gln	missense variant	-	NC_000014.9:g.105146622C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1307810069	p.Val865Met	missense variant	-	NC_000014.9:g.105146611C>T	TOPMed
rs369469630	p.Ile866Met	missense variant	-	NC_000014.9:g.105146496G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748270220	p.Ile866Phe	missense variant	-	NC_000014.9:g.105146498T>A	ExAC,gnomAD
rs587610078	p.Gly867Val	missense variant	-	NC_000014.9:g.105146494C>A	1000Genomes,ExAC,gnomAD
rs1334041983	p.Gly867Arg	missense variant	-	NC_000014.9:g.105146495C>T	TOPMed,gnomAD
rs138786039	p.Gly869Arg	missense variant	-	NC_000014.9:g.105146489C>T	ESP,ExAC,TOPMed,gnomAD
rs138786039	p.Gly869Trp	missense variant	-	NC_000014.9:g.105146489C>A	ESP,ExAC,TOPMed,gnomAD
rs143711692	p.Arg870Ile	missense variant	-	NC_000014.9:g.105146485C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs143711692	p.Arg870Lys	missense variant	-	NC_000014.9:g.105146485C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs757781303	p.Trp873Arg	missense variant	-	NC_000014.9:g.105146477A>G	ExAC,TOPMed,gnomAD
rs1331582058	p.Trp873Leu	missense variant	-	NC_000014.9:g.105146476C>A	TOPMed
rs752320361	p.Ser874Phe	missense variant	-	NC_000014.9:g.105146473G>A	ExAC,gnomAD
rs754709264	p.Arg875Gln	missense variant	-	NC_000014.9:g.105146470C>T	ExAC,TOPMed,gnomAD
rs764784118	p.Arg875Trp	missense variant	-	NC_000014.9:g.105146471G>A	ExAC,TOPMed,gnomAD
rs754173842	p.Gly876Asp	missense variant	-	NC_000014.9:g.105146467C>T	ExAC,TOPMed,gnomAD
rs761052445	p.Thr877Asn	missense variant	-	NC_000014.9:g.105146464G>T	ExAC,TOPMed,gnomAD
rs761052445	p.Thr877Ile	missense variant	-	NC_000014.9:g.105146464G>A	ExAC,TOPMed,gnomAD
rs150616867	p.Pro878Leu	missense variant	-	NC_000014.9:g.105146461G>A	ESP,ExAC,TOPMed,gnomAD
rs1232600323	p.Phe879Leu	missense variant	-	NC_000014.9:g.105146457G>T	gnomAD
rs141886501	p.Gly882Arg	missense variant	-	NC_000014.9:g.105146450C>T	ESP,ExAC,TOPMed,gnomAD
rs141886501	p.Gly882Ter	stop gained	-	NC_000014.9:g.105146450C>A	ESP,ExAC,TOPMed,gnomAD
rs1382590333	p.Ser883Ile	missense variant	-	NC_000014.9:g.105146446C>A	gnomAD
NCI-TCGA novel	p.Trp885Ter	stop gained	-	NC_000014.9:g.105146439C>T	NCI-TCGA
NCI-TCGA novel	p.Glu887ValPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.105146434_105146435insTCCGGGAGGTGTGTCGCGGCCCGCTCGAA	NCI-TCGA
rs1261355063	p.Glu887Lys	missense variant	-	NC_000014.9:g.105146435C>T	TOPMed
rs775886072	p.Asp888Asn	missense variant	-	NC_000014.9:g.105146432C>T	ExAC,gnomAD
rs775886072	p.Asp888Tyr	missense variant	-	NC_000014.9:g.105146432C>A	ExAC,gnomAD
rs1046846804	p.Ser891Asn	missense variant	-	NC_000014.9:g.105146422C>T	gnomAD
rs746806161	p.Ser891Gly	missense variant	-	NC_000014.9:g.105146423T>C	ExAC,gnomAD
rs1423757449	p.Cys892Tyr	missense variant	-	NC_000014.9:g.105146419C>T	gnomAD
rs758419917	p.Arg893His	missense variant	-	NC_000014.9:g.105146416C>T	ExAC,TOPMed,gnomAD
rs1400858172	p.Asp896Gly	missense variant	-	NC_000014.9:g.105146407T>C	TOPMed
rs1430552781	p.Asp896Tyr	missense variant	-	NC_000014.9:g.105146408C>A	gnomAD
rs747590410	p.Gly897Asp	missense variant	-	NC_000014.9:g.105146404C>T	ExAC,gnomAD
rs754481519	p.Arg898His	missense variant	-	NC_000014.9:g.105146401C>T	ExAC,TOPMed,gnomAD
rs746879958	p.Arg898Cys	missense variant	-	NC_000014.9:g.105146402G>A	ExAC,TOPMed,gnomAD
rs753441664	p.Arg899Cys	missense variant	-	NC_000014.9:g.105146399G>A	ExAC,TOPMed,gnomAD
rs587624529	p.Arg899His	missense variant	-	NC_000014.9:g.105146398C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs587624529	p.Arg899Leu	missense variant	-	NC_000014.9:g.105146398C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1359142750	p.Asp900Asn	missense variant	-	NC_000014.9:g.105146396C>T	TOPMed,gnomAD
rs1231692659	p.Ser902Thr	missense variant	-	NC_000014.9:g.105146389C>G	TOPMed
rs1023504722	p.Lys903Glu	missense variant	-	NC_000014.9:g.105146387T>C	TOPMed
rs1436976805	p.Cys906Gly	missense variant	-	NC_000014.9:g.105145967A>C	TOPMed
rs1269928138	p.Gly907Glu	missense variant	-	NC_000014.9:g.105145963C>T	gnomAD
rs745492297	p.Leu912Gln	missense variant	-	NC_000014.9:g.105145948A>T	ExAC,gnomAD
rs751874102	p.Gly915Ser	missense variant	-	NC_000014.9:g.105145940C>T	ExAC,gnomAD
rs751874102	p.Gly915Arg	missense variant	-	NC_000014.9:g.105145940C>G	ExAC,gnomAD
rs755712823	p.Glu918Lys	missense variant	-	NC_000014.9:g.105145931C>T	ExAC,gnomAD
rs1404064690	p.Ala919Asp	missense variant	-	NC_000014.9:g.105145927G>T	gnomAD
rs199604226	p.Leu920Val	missense variant	-	NC_000014.9:g.105145925G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1237491267	p.Ser921Asn	missense variant	-	NC_000014.9:g.105145921C>T	TOPMed
rs754037075	p.Ala922Thr	missense variant	-	NC_000014.9:g.105145919C>T	ExAC,TOPMed,gnomAD
rs754037075	p.Ala922Ser	missense variant	-	NC_000014.9:g.105145919C>A	ExAC,TOPMed,gnomAD
rs766518139	p.Pro925Ser	missense variant	-	NC_000014.9:g.105145910G>A	ExAC,gnomAD
rs1243373921	p.Gly927Arg	missense variant	-	NC_000014.9:g.105145904C>T	TOPMed,gnomAD
rs1243373921	p.Gly927Trp	missense variant	-	NC_000014.9:g.105145904C>A	TOPMed,gnomAD
rs1437975309	p.Pro935Leu	missense variant	-	NC_000014.9:g.105145879G>A	TOPMed
rs774068774	p.Arg940Gln	missense variant	-	NC_000014.9:g.105145864C>T	ExAC,TOPMed,gnomAD
rs1205605756	p.Pro941Ser	missense variant	-	NC_000014.9:g.105145862G>A	gnomAD
rs202211653	p.Trp946Arg	missense variant	-	NC_000014.9:g.105145847A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1392028875	p.Gly947Arg	missense variant	-	NC_000014.9:g.105145844C>T	TOPMed
rs1392028875	p.Gly947Trp	missense variant	-	NC_000014.9:g.105145844C>A	TOPMed
rs1332027915	p.Glu948Val	missense variant	-	NC_000014.9:g.105145840T>A	TOPMed
rs1258673957	p.Glu948Gln	missense variant	-	NC_000014.9:g.105145841C>G	gnomAD
rs775434840	p.Gly950Ser	missense variant	-	NC_000014.9:g.105145835C>T	ExAC,TOPMed,gnomAD
rs145737381	p.Ala951Thr	missense variant	-	NC_000014.9:g.105145832C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200465659	p.Ala951Val	missense variant	-	NC_000014.9:g.105145831G>A	1000Genomes,gnomAD
rs1383211824	p.Pro955Leu	missense variant	-	NC_000014.9:g.105145819G>A	TOPMed,gnomAD
rs182661733	p.Pro955Ala	missense variant	-	NC_000014.9:g.105145820G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs770556119	p.Ser956Asn	missense variant	-	NC_000014.9:g.105145816C>T	ExAC,gnomAD
rs1260587983	p.Thr957Ile	missense variant	-	NC_000014.9:g.105145813G>A	TOPMed
rs778324943	p.Thr957Pro	missense variant	-	NC_000014.9:g.105145814T>G	ExAC,gnomAD
rs778324943	p.Thr957Ser	missense variant	-	NC_000014.9:g.105145814T>A	ExAC,gnomAD
rs1442428691	p.Pro958His	missense variant	-	NC_000014.9:g.105145810G>T	gnomAD
rs1162498886	p.Pro958Ser	missense variant	-	NC_000014.9:g.105145811G>A	gnomAD
NCI-TCGA novel	p.Cys959Tyr	missense variant	-	NC_000014.9:g.105145807C>T	NCI-TCGA
rs1243293784	p.Pro961Gln	missense variant	-	NC_000014.9:g.105145801G>T	gnomAD
rs758867523	p.Arg962Cys	missense variant	-	NC_000014.9:g.105145799G>A	ExAC,TOPMed,gnomAD
rs748620925	p.Arg962His	missense variant	-	NC_000014.9:g.105145798C>T	ExAC,TOPMed,gnomAD
rs779579101	p.Ser963Phe	missense variant	-	NC_000014.9:g.105145795G>A	ExAC,gnomAD
rs753936530	p.Gly964Ser	missense variant	-	NC_000014.9:g.105145793C>T	ExAC,TOPMed,gnomAD
rs766606501	p.His965Asp	missense variant	-	NC_000014.9:g.105145790G>C	ExAC,gnomAD
rs1245464956	p.His965Gln	missense variant	-	NC_000014.9:g.105145788G>T	gnomAD
rs1354523387	p.Asp967Asn	missense variant	-	NC_000014.9:g.105145784C>T	gnomAD
rs984462286	p.Asn968Ser	missense variant	-	NC_000014.9:g.105145780T>C	TOPMed,gnomAD
rs909866657	p.Asn968Asp	missense variant	-	NC_000014.9:g.105145781T>C	gnomAD
rs1460790426	p.Ala971Gly	missense variant	-	NC_000014.9:g.105145771G>C	TOPMed
rs372934981	p.Arg972His	missense variant	-	NC_000014.9:g.105145768C>T	ESP,ExAC,TOPMed,gnomAD
rs756335426	p.Arg972Cys	missense variant	-	NC_000014.9:g.105145769G>A	ExAC,gnomAD
rs1408169039	p.Leu975Trp	missense variant	-	NC_000014.9:g.105145759A>C	TOPMed
rs762758439	p.His976Tyr	missense variant	-	NC_000014.9:g.105145757G>A	ExAC,gnomAD
rs1474785813	p.His976Arg	missense variant	-	NC_000014.9:g.105145756T>C	TOPMed,gnomAD
rs976541906	p.Asn978Ser	missense variant	-	NC_000014.9:g.105145750T>C	TOPMed,gnomAD
rs976541906	p.Asn978Thr	missense variant	-	NC_000014.9:g.105145750T>G	TOPMed,gnomAD
rs368191747	p.Arg979His	missense variant	-	NC_000014.9:g.105145747C>T	ESP,ExAC,TOPMed,gnomAD
rs202178182	p.Arg979Cys	missense variant	-	NC_000014.9:g.105145748G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs759082162	p.His981Arg	missense variant	-	NC_000014.9:g.105145741T>C	ExAC,TOPMed,gnomAD
rs770587327	p.Val982Met	missense variant	-	NC_000014.9:g.105145739C>T	ExAC,TOPMed,gnomAD
rs770587327	p.Val982Leu	missense variant	-	NC_000014.9:g.105145739C>G	ExAC,TOPMed,gnomAD
rs757532862	p.Thr987Met	missense variant	-	NC_000014.9:g.105145054G>A	ExAC,gnomAD
rs778532598	p.Gly989Asp	missense variant	-	NC_000014.9:g.105145048C>T	ExAC,gnomAD
rs766346968	p.Ala990Ser	missense variant	-	NC_000014.9:g.105145046C>A	ExAC,TOPMed,gnomAD
rs766346968	p.Ala990Thr	missense variant	-	NC_000014.9:g.105145046C>T	ExAC,TOPMed,gnomAD
rs146100994	p.Ile991Val	missense variant	-	NC_000014.9:g.105145043T>C	ESP,ExAC,gnomAD
rs750015398	p.Ser993Pro	missense variant	-	NC_000014.9:g.105145037A>G	ExAC,gnomAD
COSM1300440	p.Ser993Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105145036G>C	NCI-TCGA Cosmic
rs774174242	p.Gly994Glu	missense variant	-	NC_000014.9:g.105145033C>T	ExAC,TOPMed,gnomAD
rs761595269	p.Gly994Arg	missense variant	-	NC_000014.9:g.105145034C>T	ExAC,TOPMed,gnomAD
rs1486931022	p.Arg996His	missense variant	-	NC_000014.9:g.105145027C>T	TOPMed,gnomAD
rs1180201065	p.Arg996Cys	missense variant	-	NC_000014.9:g.105145028G>A	gnomAD
COSM953954	p.Arg996Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105145028G>T	NCI-TCGA Cosmic
rs1243186714	p.Ser997Phe	missense variant	-	NC_000014.9:g.105145024G>A	gnomAD
rs587710446	p.Ala1000Thr	missense variant	-	NC_000014.9:g.105145016C>T	1000Genomes,ExAC,gnomAD
rs587645520	p.Ala1000Val	missense variant	-	NC_000014.9:g.105145015G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745934867	p.Arg1006Leu	missense variant	-	NC_000014.9:g.105144997C>A	ExAC,gnomAD
rs1358299413	p.Arg1006Trp	missense variant	-	NC_000014.9:g.105144998G>A	TOPMed,gnomAD
rs745934867	p.Arg1006Gln	missense variant	-	NC_000014.9:g.105144997C>T	ExAC,gnomAD
rs781297936	p.Asp1007Gly	missense variant	-	NC_000014.9:g.105144994T>C	ExAC,gnomAD
rs771031914	p.Arg1008Cys	missense variant	-	NC_000014.9:g.105144992G>A	ExAC,TOPMed,gnomAD
rs141025821	p.Arg1008Pro	missense variant	-	NC_000014.9:g.105144991C>G	ESP,ExAC,TOPMed,gnomAD
rs141025821	p.Arg1008His	missense variant	-	NC_000014.9:g.105144991C>T	ESP,ExAC,TOPMed,gnomAD
rs754665342	p.Leu1009Arg	missense variant	-	NC_000014.9:g.105144988A>C	ExAC,gnomAD
rs753736786	p.Val1011Met	missense variant	-	NC_000014.9:g.105144983C>T	ExAC,gnomAD
rs1163025278	p.Asp1015Asn	missense variant	-	NC_000014.9:g.105144971C>T	gnomAD
rs749917276	p.Arg1016Leu	missense variant	-	NC_000014.9:g.105144967C>A	ExAC,gnomAD
rs749917276	p.Arg1016Gln	missense variant	-	NC_000014.9:g.105144967C>T	ExAC,gnomAD
rs140173764	p.Arg1016Trp	missense variant	-	NC_000014.9:g.105144968G>A	ESP,ExAC,TOPMed,gnomAD
rs1193528075	p.Ala1017Thr	missense variant	-	NC_000014.9:g.105144965C>T	gnomAD
rs767092332	p.Ala1017Val	missense variant	-	NC_000014.9:g.105144964G>A	ExAC,TOPMed,gnomAD
rs1193528075	p.Ala1017Ser	missense variant	-	NC_000014.9:g.105144965C>A	gnomAD
rs751112793	p.Ser1018Tyr	missense variant	-	NC_000014.9:g.105144961G>T	ExAC,gnomAD
rs189467562	p.Ser1019Leu	missense variant	-	NC_000014.9:g.105144958G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757259650	p.Gly1020Glu	missense variant	-	NC_000014.9:g.105144955C>T	ExAC,TOPMed,gnomAD
rs1216662123	p.Ala1021Thr	missense variant	-	NC_000014.9:g.105144953C>T	gnomAD
rs765640374	p.Ala1023Asp	missense variant	-	NC_000014.9:g.105144946G>T	ExAC,TOPMed,gnomAD
rs777145814	p.Val1024Met	missense variant	-	NC_000014.9:g.105144944C>T	ExAC,TOPMed,gnomAD
rs770942049	p.Val1026Ala	missense variant	-	NC_000014.9:g.105144937A>G	ExAC
rs1302400001	p.Ala1027Val	missense variant	-	NC_000014.9:g.105144934G>A	gnomAD
rs773304550	p.Val1028Met	missense variant	-	NC_000014.9:g.105144932C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1029Cys	missense variant	-	NC_000014.9:g.105143637G>C	NCI-TCGA
rs781269054	p.Ser1029Phe	missense variant	-	NC_000014.9:g.105143637G>A	ExAC,gnomAD
rs757320473	p.Ser1031Ile	missense variant	-	NC_000014.9:g.105143631C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1031Gly	missense variant	-	NC_000014.9:g.105143632T>C	NCI-TCGA
NCI-TCGA novel	p.Ser1031Asn	missense variant	-	NC_000014.9:g.105143631C>T	NCI-TCGA
rs1337494887	p.Pro1032Leu	missense variant	-	NC_000014.9:g.105143628G>A	TOPMed,gnomAD
rs201228243	p.Asp1035Glu	missense variant	-	NC_000014.9:g.105143618G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201228243	p.Asp1035Glu	missense variant	-	NC_000014.9:g.105143618G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1481395158	p.Pro1037Leu	missense variant	-	NC_000014.9:g.105143613G>A	TOPMed,gnomAD
rs777383583	p.Asp1038Gly	missense variant	-	NC_000014.9:g.105143610T>C	ExAC,TOPMed,gnomAD
rs1251489881	p.Ser1039Gly	missense variant	-	NC_000014.9:g.105143608T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln1043ArgPheSerTerUnkUnkUnk	frameshift	-	NC_000014.9:g.105143596G>-	NCI-TCGA
rs111358108	p.Gly1044Cys	missense variant	-	NC_000014.9:g.105143593C>A	gnomAD
rs111358108	p.Gly1044Ser	missense variant	-	NC_000014.9:g.105143593C>T	gnomAD
rs369465389	p.Ala1045Thr	missense variant	-	NC_000014.9:g.105143590C>T	ESP,ExAC,TOPMed,gnomAD
rs587730186	p.Ala1045Val	missense variant	-	NC_000014.9:g.105143589G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1487821709	p.Ala1048Val	missense variant	-	NC_000014.9:g.105143580G>A	gnomAD
rs587678193	p.Ala1048Thr	missense variant	-	NC_000014.9:g.105143581C>T	1000Genomes,ExAC,gnomAD
rs587678193	p.Ala1048Ser	missense variant	-	NC_000014.9:g.105143581C>A	1000Genomes,ExAC,gnomAD
rs1356689695	p.Ile1049Val	missense variant	-	NC_000014.9:g.105143578T>C	TOPMed
rs1238179652	p.Val1050Leu	missense variant	-	NC_000014.9:g.105143575C>A	gnomAD
rs1238179652	p.Val1050Met	missense variant	-	NC_000014.9:g.105143575C>T	gnomAD
rs1361876209	p.Ala1051Thr	missense variant	-	NC_000014.9:g.105143572C>T	gnomAD
NCI-TCGA novel	p.Ala1051Val	missense variant	-	NC_000014.9:g.105143571G>A	NCI-TCGA
rs374324090	p.Ala1052Thr	missense variant	-	NC_000014.9:g.105143569C>T	ESP,ExAC,TOPMed,gnomAD
rs1383304913	p.Ile1053Thr	missense variant	-	NC_000014.9:g.105143565A>G	gnomAD
rs774645077	p.Ile1053Val	missense variant	-	NC_000014.9:g.105143566T>C	ExAC,TOPMed,gnomAD
rs759390792	p.Gln1055Arg	missense variant	-	NC_000014.9:g.105143559T>C	ExAC,gnomAD
rs376433872	p.Arg1056Pro	missense variant	-	NC_000014.9:g.105143556C>G	ESP,ExAC,TOPMed,gnomAD
rs376433872	p.Arg1056Gln	missense variant	-	NC_000014.9:g.105143556C>T	ESP,ExAC,TOPMed,gnomAD
rs371312658	p.Arg1056Trp	missense variant	-	NC_000014.9:g.105143557G>A	ESP,ExAC,TOPMed,gnomAD
rs1375655500	p.Asn1058Lys	missense variant	-	NC_000014.9:g.105143549G>C	TOPMed,gnomAD
rs1038385976	p.Asn1058Ser	missense variant	-	NC_000014.9:g.105143550T>C	TOPMed,gnomAD
rs1038385976	p.Asn1058Thr	missense variant	-	NC_000014.9:g.105143550T>G	TOPMed,gnomAD
rs1471508403	p.Asn1058His	missense variant	-	NC_000014.9:g.105143551T>G	gnomAD
NCI-TCGA novel	p.Ser1060Ter	stop gained	-	NC_000014.9:g.105143544G>C	NCI-TCGA
rs1193759039	p.Leu1061Val	missense variant	-	NC_000014.9:g.105143542G>C	gnomAD
rs373487292	p.Leu1062Phe	missense variant	-	NC_000014.9:g.105143539G>A	ESP,ExAC,TOPMed,gnomAD
rs771544324	p.Leu1063Val	missense variant	-	NC_000014.9:g.105143536G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1063Gln	missense variant	-	NC_000014.9:g.105143535A>T	NCI-TCGA
NCI-TCGA novel	p.Ala1064Thr	missense variant	-	NC_000014.9:g.105143533C>T	NCI-TCGA
NCI-TCGA novel	p.Thr1066Ala	missense variant	-	NC_000014.9:g.105143527T>C	NCI-TCGA
rs778525933	p.Glu1067Lys	missense variant	-	NC_000014.9:g.105143524C>T	ExAC,gnomAD
rs1428168902	p.Glu1067Ala	missense variant	-	NC_000014.9:g.105143523T>G	TOPMed
rs754677092	p.Val1068Ala	missense variant	-	NC_000014.9:g.105143520A>G	ExAC,gnomAD
rs754173852	p.Val1070Met	missense variant	-	NC_000014.9:g.105143515C>T	ExAC,TOPMed,gnomAD
rs117293701	p.Thr1072Met	missense variant	-	NC_000014.9:g.105143508G>A	ESP,ExAC,TOPMed,gnomAD
rs1185374104	p.Val1073Asp	missense variant	-	NC_000014.9:g.105143505A>T	gnomAD
rs750880813	p.Val1073Phe	missense variant	-	NC_000014.9:g.105143506C>A	ExAC,TOPMed,gnomAD
rs1407130137	p.Val1074Ile	missense variant	-	NC_000014.9:g.105143503C>T	gnomAD
rs74913644	p.Thr1075Met	missense variant	-	NC_000014.9:g.105143499G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs74913644	p.Thr1075Arg	missense variant	-	NC_000014.9:g.105143499G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1397950498	p.Gly1076Asp	missense variant	-	NC_000014.9:g.105143496C>T	gnomAD
rs78487156	p.Gly1076Ser	missense variant	-	NC_000014.9:g.105143497C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201660730	p.Gly1077Ser	missense variant	-	NC_000014.9:g.105143494C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1472208009	p.Ser1078Pro	missense variant	-	NC_000014.9:g.105143491A>G	TOPMed
rs199934719	p.Ser1079Pro	missense variant	-	NC_000014.9:g.105143488A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs973272911	p.Thr1080Ala	missense variant	-	NC_000014.9:g.105143485T>C	TOPMed,gnomAD
rs905567983	p.Gly1081Val	missense variant	-	NC_000014.9:g.105143170C>A	TOPMed
rs1378493237	p.Leu1082Arg	missense variant	-	NC_000014.9:g.105143167A>C	gnomAD
rs769393291	p.Val1084Met	missense variant	-	NC_000014.9:g.105143162C>T	ExAC,TOPMed,gnomAD
rs769393291	p.Val1084Leu	missense variant	-	NC_000014.9:g.105143162C>G	ExAC,TOPMed,gnomAD
rs1388133417	p.Pro1085His	missense variant	-	NC_000014.9:g.105143158G>T	TOPMed
rs746223998	p.Val1086Met	missense variant	-	NC_000014.9:g.105143156C>T	ExAC,gnomAD
rs587682736	p.Gly1089Ser	missense variant	-	NC_000014.9:g.105143147C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs587682736	p.Gly1089Cys	missense variant	-	NC_000014.9:g.105143147C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs778429234	p.Val1093Met	missense variant	-	NC_000014.9:g.105143135C>T	ExAC,TOPMed,gnomAD
rs1228383717	p.Trp1095Ter	stop gained	-	NC_000014.9:g.105143127C>T	gnomAD
rs200121636	p.Ala1097Gly	missense variant	-	NC_000014.9:g.105143122G>C	ExAC,TOPMed,gnomAD
rs200121636	p.Ala1097Val	missense variant	-	NC_000014.9:g.105143122G>A	ExAC,TOPMed,gnomAD
rs767164769	p.Cys1098Trp	missense variant	-	NC_000014.9:g.105143118G>C	ExAC,TOPMed,gnomAD
rs754118913	p.Cys1098Gly	missense variant	-	NC_000014.9:g.105143120A>C	ExAC,gnomAD
rs761606083	p.Val1099Met	missense variant	-	NC_000014.9:g.105143117C>T	ExAC,TOPMed,gnomAD
rs774210756	p.Leu1101Pro	missense variant	-	NC_000014.9:g.105143110A>G	ExAC,gnomAD
rs764089423	p.Cys1102Tyr	missense variant	-	NC_000014.9:g.105143107C>T	ExAC,gnomAD
rs774914201	p.Val1103Leu	missense variant	-	NC_000014.9:g.105143105C>A	ExAC,TOPMed,gnomAD
rs774914201	p.Val1103Met	missense variant	-	NC_000014.9:g.105143105C>T	ExAC,TOPMed,gnomAD
rs1487170881	p.Trp1104Arg	missense variant	-	NC_000014.9:g.105143102A>G	TOPMed,gnomAD
rs1286798865	p.Thr1106Lys	missense variant	-	NC_000014.9:g.105143095G>T	gnomAD
rs1413207667	p.Arg1107Cys	missense variant	-	NC_000014.9:g.105143093G>A	gnomAD
rs1476682844	p.Arg1109His	missense variant	-	NC_000014.9:g.105143086C>T	gnomAD
rs1476682844	p.Arg1109Leu	missense variant	-	NC_000014.9:g.105143086C>A	gnomAD
rs1180573403	p.Arg1109Cys	missense variant	-	NC_000014.9:g.105143087G>A	TOPMed,gnomAD
rs375610143	p.Arg1110Lys	missense variant	-	NC_000014.9:g.105143083C>T	ESP,ExAC,gnomAD
rs377407573	p.Arg1113Leu	missense variant	-	NC_000014.9:g.105143074C>A	ESP,ExAC,gnomAD
rs370798389	p.Arg1113Trp	missense variant	-	NC_000014.9:g.105143075G>A	ESP,TOPMed,gnomAD
rs377407573	p.Arg1113Gln	missense variant	-	NC_000014.9:g.105143074C>T	ESP,ExAC,gnomAD
rs373863344	p.Glu1114Lys	missense variant	-	NC_000014.9:g.105143072C>T	ESP,ExAC,TOPMed,gnomAD
rs1468186034	p.Arg1115Lys	missense variant	-	NC_000014.9:g.105143068C>T	TOPMed
rs933320740	p.Ser1116Arg	missense variant	-	NC_000014.9:g.105143064G>C	TOPMed
rs747444035	p.Arg1117Gln	missense variant	-	NC_000014.9:g.105143062C>T	ExAC,gnomAD
rs34728766	p.Arg1117Trp	missense variant	-	NC_000014.9:g.105143063G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772753236	p.Pro1119Leu	missense variant	-	NC_000014.9:g.105143056G>A	ExAC,TOPMed,gnomAD
rs778816523	p.Arg1120Trp	missense variant	-	NC_000014.9:g.105143054G>A	ExAC,TOPMed,gnomAD
rs1397898845	p.Arg1120Gln	missense variant	-	NC_000014.9:g.105143053C>T	TOPMed,gnomAD
rs1303893484	p.Glu1121Gly	missense variant	-	NC_000014.9:g.105143050T>C	TOPMed
rs753945130	p.Ser1123Asn	missense variant	-	NC_000014.9:g.105143044C>T	ExAC,gnomAD
rs755104757	p.Ser1123Arg	missense variant	-	NC_000014.9:g.105143045T>G	ExAC,TOPMed,gnomAD
rs757044739	p.Ala1124Thr	missense variant	-	NC_000014.9:g.105143042C>T	ExAC,TOPMed,gnomAD
rs1297005094	p.Asn1125Asp	missense variant	-	NC_000014.9:g.105143039T>C	TOPMed,gnomAD
rs751416485	p.Asn1125Ser	missense variant	-	NC_000014.9:g.105143038T>C	ExAC,TOPMed,gnomAD
rs763999701	p.Asn1126Asp	missense variant	-	NC_000014.9:g.105143036T>C	ExAC,gnomAD
rs762920437	p.Gln1127Lys	missense variant	-	NC_000014.9:g.105143033G>T	ExAC,gnomAD
rs1193642982	p.Gln1127His	missense variant	-	NC_000014.9:g.105143031C>G	gnomAD
NCI-TCGA novel	p.Gln1127Ter	stop gained	-	NC_000014.9:g.105143033G>A	NCI-TCGA
rs1396385175	p.Trp1128Ser	missense variant	-	NC_000014.9:g.105143029C>G	TOPMed,gnomAD
rs1488945744	p.Ala1129Gly	missense variant	-	NC_000014.9:g.105143026G>C	TOPMed
rs1477030485	p.Pro1130Ala	missense variant	-	NC_000014.9:g.105143024G>C	gnomAD
rs752712856	p.Pro1130Leu	missense variant	-	NC_000014.9:g.105143023G>A	ExAC,TOPMed,gnomAD
rs759100589	p.Leu1131Phe	missense variant	-	NC_000014.9:g.105143021G>A	ExAC,TOPMed,gnomAD
rs1318070474	p.Pro1133Ala	missense variant	-	NC_000014.9:g.105143015G>C	TOPMed,gnomAD
rs1257319943	p.Arg1135Cys	missense variant	-	NC_000014.9:g.105143009G>A	gnomAD
rs1216756119	p.Arg1135Leu	missense variant	-	NC_000014.9:g.105143008C>A	TOPMed,gnomAD
rs1216756119	p.Arg1135His	missense variant	-	NC_000014.9:g.105143008C>T	TOPMed,gnomAD
rs776143085	p.Asn1136Asp	missense variant	-	NC_000014.9:g.105143006T>C	ExAC,gnomAD
rs1387501640	p.Asn1136Ser	missense variant	-	NC_000014.9:g.105143005T>C	gnomAD
rs1292064765	p.Ile1138Thr	missense variant	-	NC_000014.9:g.105142999A>G	TOPMed,gnomAD
rs370666714	p.Glu1139Lys	missense variant	-	NC_000014.9:g.105142997C>T	ESP,ExAC,TOPMed,gnomAD
rs587669755	p.Arg1140Gln	missense variant	-	NC_000014.9:g.105142993C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772593683	p.Arg1140Trp	missense variant	-	NC_000014.9:g.105142994G>A	ExAC,TOPMed,gnomAD
rs779483702	p.Pro1141Leu	missense variant	-	NC_000014.9:g.105142990G>A	ExAC,TOPMed,gnomAD
rs756380706	p.Gly1142Ala	missense variant	-	NC_000014.9:g.105142987C>G	ExAC,TOPMed,gnomAD
rs756380706	p.Gly1142Glu	missense variant	-	NC_000014.9:g.105142987C>T	ExAC,TOPMed,gnomAD
rs146037139	p.Gly1142Arg	missense variant	-	NC_000014.9:g.105142988C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777506869	p.Gly1143Ser	missense variant	-	NC_000014.9:g.105142985C>T	ExAC,gnomAD
rs777506869	p.Gly1143Cys	missense variant	-	NC_000014.9:g.105142985C>A	ExAC,gnomAD
rs967567074	p.Gly1143Val	missense variant	-	NC_000014.9:g.105142984C>A	gnomAD
rs967567074	p.Gly1143Asp	missense variant	-	NC_000014.9:g.105142984C>T	gnomAD
rs1484198188	p.His1144Arg	missense variant	-	NC_000014.9:g.105142981T>C	TOPMed,gnomAD
rs1484198188	p.His1144Leu	missense variant	-	NC_000014.9:g.105142981T>A	TOPMed,gnomAD
rs1020953248	p.His1144Tyr	missense variant	-	NC_000014.9:g.105142982G>A	TOPMed
rs1256587490	p.Lys1145Glu	missense variant	-	NC_000014.9:g.105142979T>C	gnomAD
rs1232245948	p.Asp1146Asn	missense variant	-	NC_000014.9:g.105142976C>T	gnomAD
rs377350298	p.Val1147Met	missense variant	-	NC_000014.9:g.105142973C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765224829	p.Leu1148Phe	missense variant	-	NC_000014.9:g.105142970G>A	ExAC,gnomAD
rs142271414	p.Gln1150His	missense variant	-	NC_000014.9:g.105142962C>A	ESP,TOPMed,gnomAD
rs1445122641	p.Cys1151Phe	missense variant	-	NC_000014.9:g.105142960C>A	TOPMed,gnomAD
rs1174952113	p.Lys1152Arg	missense variant	-	NC_000014.9:g.105142957T>C	TOPMed
rs753436376	p.Lys1152Asn	missense variant	-	NC_000014.9:g.105142956C>G	ExAC,TOPMed,gnomAD
rs766097766	p.Asn1153Lys	missense variant	-	NC_000014.9:g.105142953G>T	ExAC,gnomAD
rs587770280	p.Thr1155Arg	missense variant	-	NC_000014.9:g.105142948G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs587770280	p.Thr1155Met	missense variant	-	NC_000014.9:g.105142948G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs772503929	p.Pro1156Ser	missense variant	-	NC_000014.9:g.105142946G>A	ExAC,gnomAD
rs143438617	p.Pro1156Leu	missense variant	-	NC_000014.9:g.105142945G>A	ESP,ExAC,TOPMed,gnomAD
rs201726085	p.Pro1157Leu	missense variant	-	NC_000014.9:g.105142942G>A	ESP,ExAC,TOPMed,gnomAD
rs376149193	p.Pro1158Leu	missense variant	-	NC_000014.9:g.105142939G>A	ESP,ExAC,TOPMed,gnomAD
rs200736888	p.Arg1159His	missense variant	-	NC_000014.9:g.105142936C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs188092112	p.Arg1159Cys	missense variant	-	NC_000014.9:g.105142937G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748033018	p.Arg1160Ser	missense variant	-	NC_000014.9:g.105142932C>A	ExAC,gnomAD
rs1399666136	p.Arg1160Gly	missense variant	-	NC_000014.9:g.105142934T>C	TOPMed,gnomAD
rs778692204	p.Ala1161Val	missense variant	-	NC_000014.9:g.105142930G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1162Gly	missense variant	-	NC_000014.9:g.105142927T>C	NCI-TCGA
rs1238038983	p.Glu1163Lys	missense variant	-	NC_000014.9:g.105142925C>T	gnomAD
rs587608743	p.Ala1164Val	missense variant	-	NC_000014.9:g.105142921G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1231803834	p.Leu1165Gln	missense variant	-	NC_000014.9:g.105142918A>T	TOPMed
rs587765253	p.Gly1167Trp	missense variant	-	NC_000014.9:g.105142913C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs587765253	p.Gly1167Arg	missense variant	-	NC_000014.9:g.105142913C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764480222	p.Pro1168Leu	missense variant	-	NC_000014.9:g.105142909G>A	ExAC,TOPMed,gnomAD
COSM5585503	p.Pro1168Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105142910G>A	NCI-TCGA Cosmic
rs1458968642	p.Ala1169Val	missense variant	-	NC_000014.9:g.105142906G>A	gnomAD
NCI-TCGA novel	p.Ala1169Thr	missense variant	-	NC_000014.9:g.105142907C>T	NCI-TCGA
rs587707217	p.Gly1170Ser	missense variant	-	NC_000014.9:g.105142904C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776830367	p.His1171Gln	missense variant	-	NC_000014.9:g.105142899G>C	ExAC,TOPMed,gnomAD
rs1264974590	p.His1171Tyr	missense variant	-	NC_000014.9:g.105142901G>A	gnomAD
rs776830367	p.His1171Gln	missense variant	-	NC_000014.9:g.105142899G>T	ExAC,TOPMed,gnomAD
rs1318258128	p.His1171Arg	missense variant	-	NC_000014.9:g.105142900T>C	gnomAD
rs587647951	p.Ala1172Thr	missense variant	-	NC_000014.9:g.105142898C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs778727254	p.Ala1172Val	missense variant	-	NC_000014.9:g.105142897G>A	ExAC,TOPMed,gnomAD
rs587647951	p.Ala1172Ser	missense variant	-	NC_000014.9:g.105142898C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1266124676	p.Ala1173Thr	missense variant	-	NC_000014.9:g.105142895C>T	gnomAD
rs148815369	p.Val1174Ile	missense variant	-	NC_000014.9:g.105142892C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148815369	p.Val1174Phe	missense variant	-	NC_000014.9:g.105142892C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1340346388	p.Glu1176Ala	missense variant	-	NC_000014.9:g.105142885T>G	TOPMed,gnomAD
rs750007171	p.Glu1179Asp	missense variant	-	NC_000014.9:g.105142875C>G	ExAC,TOPMed,gnomAD
rs367844673	p.Glu1181Lys	missense variant	-	NC_000014.9:g.105142871C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1390747093	p.Glu1181Gly	missense variant	-	NC_000014.9:g.105142870T>C	gnomAD
NCI-TCGA novel	p.Asp1182ThrPheSerTerUnkUnkUnk	frameshift	-	NC_000014.9:g.105142868_105142869insCTCGT	NCI-TCGA
rs1312731501	p.Gly1184Asp	missense variant	-	NC_000014.9:g.105142861C>T	TOPMed
rs756977476	p.Arg1185Cys	missense variant	-	NC_000014.9:g.105142859G>A	ExAC,TOPMed,gnomAD
rs751204964	p.Arg1185His	missense variant	-	NC_000014.9:g.105142858C>T	ExAC,TOPMed,gnomAD
rs764471573	p.Gly1186Ser	missense variant	-	NC_000014.9:g.105142856C>T	ExAC,TOPMed,gnomAD
rs1260802984	p.Glu1188Val	missense variant	-	NC_000014.9:g.105142849T>A	TOPMed,gnomAD
rs763324007	p.Glu1188Asp	missense variant	-	NC_000014.9:g.105142848C>G	ExAC,TOPMed,gnomAD
rs775909226	p.Leu1191Pro	missense variant	-	NC_000014.9:g.105142840A>G	ExAC,gnomAD
rs759588963	p.Ala1193Val	missense variant	-	NC_000014.9:g.105142834G>A	ExAC,TOPMed,gnomAD
COSM3401169	p.Ala1193Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105142835C>T	NCI-TCGA Cosmic
rs770944862	p.Glu1194Lys	missense variant	-	NC_000014.9:g.105142832C>T	ExAC,gnomAD
rs760900749	p.Phe1196Val	missense variant	-	NC_000014.9:g.105142826A>C	ExAC,gnomAD
rs773316845	p.Phe1196Tyr	missense variant	-	NC_000014.9:g.105142825A>T	ExAC
rs749157899	p.Ser1198Leu	missense variant	-	NC_000014.9:g.105142819G>A	ExAC,gnomAD
rs769904569	p.His1199Arg	missense variant	-	NC_000014.9:g.105142816T>C	ExAC,gnomAD
rs375144905	p.Thr1202Ile	missense variant	-	NC_000014.9:g.105142807G>A	ESP,ExAC,TOPMed,gnomAD
rs587728046	p.Thr1202Pro	missense variant	-	NC_000014.9:g.105142808T>G	1000Genomes,ExAC,gnomAD
rs756743400	p.Lys1203Glu	missense variant	-	NC_000014.9:g.105142805T>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro1205His	missense variant	-	NC_000014.9:g.105142798G>T	NCI-TCGA
NCI-TCGA novel	p.Gly1206Cys	missense variant	-	NC_000014.9:g.105142796C>A	NCI-TCGA
rs150102743	p.Arg1207Cys	missense variant	-	NC_000014.9:g.105142793G>A	ESP,ExAC,TOPMed,gnomAD
rs1378403382	p.Arg1207His	missense variant	-	NC_000014.9:g.105142792C>T	TOPMed,gnomAD
rs1225312355	p.Ser1208Leu	missense variant	-	NC_000014.9:g.105142789G>A	TOPMed
rs56753050	p.Pro1209Leu	missense variant	-	NC_000014.9:g.105142786G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs56753050	p.Pro1209Arg	missense variant	-	NC_000014.9:g.105142786G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1208820960	p.Gly1210Arg	missense variant	-	NC_000014.9:g.105142784C>G	TOPMed
rs202039687	p.Pro1212Leu	missense variant	-	NC_000014.9:g.105142777G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754321904	p.Ala1213Thr	missense variant	-	NC_000014.9:g.105142775C>T	ExAC,gnomAD
rs1273845834	p.His1214Gln	missense variant	-	NC_000014.9:g.105142770G>C	TOPMed,gnomAD
NCI-TCGA novel	p.His1214Asn	missense variant	-	NC_000014.9:g.105142772G>T	NCI-TCGA
rs760671738	p.His1214Arg	missense variant	-	NC_000014.9:g.105142771T>C	ExAC,gnomAD
rs1197962279	p.Trp1215Cys	missense variant	-	NC_000014.9:g.105142767C>G	TOPMed
rs1290446209	p.Trp1215Arg	missense variant	-	NC_000014.9:g.105142769A>G	TOPMed,gnomAD
rs772477012	p.Ser1217Leu	missense variant	-	NC_000014.9:g.105142762G>A	ExAC,TOPMed,gnomAD
rs375751284	p.Gly1218Asp	missense variant	-	NC_000014.9:g.105142759C>T	ESP,ExAC,TOPMed,gnomAD
rs375751284	p.Gly1218Val	missense variant	-	NC_000014.9:g.105142759C>A	ESP,ExAC,TOPMed,gnomAD
rs201033497	p.Pro1219Ala	missense variant	-	NC_000014.9:g.105142757G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs781007229	p.Lys1220Ile	missense variant	-	NC_000014.9:g.105142753T>A	ExAC,TOPMed,gnomAD
rs1280855594	p.Val1221Ala	missense variant	-	NC_000014.9:g.105142750A>G	TOPMed,gnomAD
rs777469234	p.Asn1223Lys	missense variant	-	NC_000014.9:g.105142743G>C	ExAC
rs758086700	p.Arg1224Cys	missense variant	-	NC_000014.9:g.105142742G>A	ExAC,TOPMed,gnomAD
rs928724782	p.Arg1224His	missense variant	-	NC_000014.9:g.105142741C>T	TOPMed,gnomAD
rs140910378	p.Ala1225Thr	missense variant	-	NC_000014.9:g.105142739C>T	ESP,ExAC,TOPMed,gnomAD
rs587606450	p.Ala1225Val	missense variant	-	NC_000014.9:g.105142738G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1212906714	p.Val1226Ile	missense variant	-	NC_000014.9:g.105142736C>T	gnomAD
rs750514312	p.Arg1227Thr	missense variant	-	NC_000014.9:g.105142732C>G	ExAC,gnomAD
rs1208208684	p.Arg1227Ser	missense variant	-	NC_000014.9:g.105142731C>A	gnomAD
COSM3494264	p.Arg1227Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105142732C>T	NCI-TCGA Cosmic
rs1166032911	p.Ser1228Asn	missense variant	-	NC_000014.9:g.105142729C>T	TOPMed,gnomAD
rs587706362	p.Asn1230Ser	missense variant	-	NC_000014.9:g.105142723T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs146843591	p.Glu1231Ala	missense variant	-	NC_000014.9:g.105142720T>G	ESP,ExAC,TOPMed,gnomAD
rs774739002	p.Arg1233Cys	missense variant	-	NC_000014.9:g.105142715G>A	ExAC,TOPMed,gnomAD
rs765069855	p.Arg1233His	missense variant	-	NC_000014.9:g.105142714C>T	ExAC,TOPMed
rs759255253	p.Tyr1234Cys	missense variant	-	NC_000014.9:g.105142711T>C	ExAC,gnomAD
rs776629011	p.Tyr1234Ter	stop gained	-	NC_000014.9:g.105142710G>T	ExAC,TOPMed,gnomAD
rs199682063	p.Ala1235Thr	missense variant	-	NC_000014.9:g.105142709C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370190108	p.Ala1235Val	missense variant	-	NC_000014.9:g.105142708G>A	ESP,ExAC,TOPMed,gnomAD
rs201557978	p.Gly1236Cys	missense variant	-	NC_000014.9:g.105142706C>A	ESP,ExAC,TOPMed,gnomAD
rs201557978	p.Gly1236Ser	missense variant	-	NC_000014.9:g.105142706C>T	ESP,ExAC,TOPMed,gnomAD
rs778540190	p.Lys1237Glu	missense variant	-	NC_000014.9:g.105142703T>C	ExAC,gnomAD
COSM3494263	p.Glu1238Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.105142700C>T	NCI-TCGA Cosmic
rs1364867123	p.Ter1239Unk	stop lost	-	NC_000014.9:g.105142696del	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0002736	Amyotrophic Lateral Sclerosis	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE;CTD_human
C0007137	Squamous cell carcinoma	disease	BEFREE
C0017636	Glioblastoma	disease	BEFREE;CTD_human
C0019621	Histiocytosis, Langerhans-Cell	disease	BEFREE
C0020179	Huntington Disease	disease	BEFREE
C0023418	leukemia	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE
C0026470	Monoclonal Gammopathy of Undetermined Significance	disease	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0030421	Paraganglioma	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0039075	Syndactyly	disease	CTD_human
C0039538	Teratoma	disease	BEFREE
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0153349	Malignant neoplasm of tongue	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0205851	Germ cell tumor	group	BEFREE
C0206659	Embryonal Carcinoma	disease	BEFREE
C0220633	Uveal melanoma	disease	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0265553	Polysyndactyly	disease	CTD_human
C0278488	Carcinoma breast stage IV	disease	BEFREE
C0279746	Adenocarcinoma of salivary gland	disease	BEFREE
C0334588	Giant Cell Glioblastoma	disease	CTD_human
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0494463	Alzheimer Disease, Late Onset	disease	BEFREE
C0558353	Tongue Carcinoma	disease	BEFREE
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE;CTD_human
C0751674	Lymphangioleiomyomatosis	disease	CTD_human
C0887833	Carcinoma, Pancreatic Ductal	disease	CTD_human
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1368683	Epithelioma	disease	BEFREE
C1458155	Mammary Neoplasms	group	CTD_human
C1621958	Glioblastoma Multiforme	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005112	Notch binding	IBA
GO:0005112	Notch binding	IPI
GO:0005509	calcium ion binding	IEA
GO:0005515	protein binding	IPI
GO:0008083	growth factor activity	IDA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	IEA
GO:0001701	in utero embryonic development	IEA
GO:0003016	respiratory system process	IEA
GO:0007219	Notch signaling pathway	NAS
GO:0007219	Notch signaling pathway	TAS
GO:0007283	spermatogenesis	IEP
GO:0009912	auditory receptor cell fate commitment	ISS
GO:0016331	morphogenesis of embryonic epithelium	IEA
GO:0030154	cell differentiation	IDA
GO:0030155	regulation of cell adhesion	IEA
GO:0030217	T cell differentiation	IDA
GO:0042127	regulation of cell population proliferation	IDA
GO:0042475	odontogenesis of dentin-containing tooth	IEA
GO:0042492	gamma-delta T cell differentiation	IEA
GO:0045061	thymic T cell selection	IDA
GO:0045746	negative regulation of Notch signaling pathway	IBA
GO:0045747	positive regulation of Notch signaling pathway	ISS
GO:1990134	epithelial cell apoptotic process involved in palatal shelf morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	IBA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	ISS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-157118	Signaling by NOTCH	IEA
R-HSA-157118	Signaling by NOTCH	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-1643685	Disease	TAS
R-HSA-1980143	Signaling by NOTCH1	IEA
R-HSA-1980143	Signaling by NOTCH1	TAS
R-HSA-1980145	Signaling by NOTCH2	IEA
R-HSA-2122948	Activated NOTCH1 Transmits Signal to the Nucleus	IEA
R-HSA-2122948	Activated NOTCH1 Transmits Signal to the Nucleus	TAS
R-HSA-2644602	Signaling by NOTCH1 PEST Domain Mutants in Cancer	TAS
R-HSA-2644603	Signaling by NOTCH1 in Cancer	TAS
R-HSA-2644606	Constitutive Signaling by NOTCH1 PEST Domain Mutants	TAS
R-HSA-2660825	Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant	TAS
R-HSA-2660826	Constitutive Signaling by NOTCH1 t(7;9)(NOTCH1:M1580_K2555) Translocation Mutant	TAS
R-HSA-2691230	Signaling by NOTCH1 HD Domain Mutants in Cancer	TAS
R-HSA-2691232	Constitutive Signaling by NOTCH1 HD Domain Mutants	TAS
R-HSA-2894858	Signaling by NOTCH1 HD+PEST Domain Mutants in Cancer	TAS
R-HSA-2894862	Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants	TAS
R-HSA-2979096	NOTCH2 Activation and Transmission of Signal to the Nucleus	IEA
R-HSA-5663202	Diseases of signal transduction	TAS
R-HSA-9012852	Signaling by NOTCH3	IEA
R-HSA-9012852	Signaling by NOTCH3	TAS
R-HSA-9013507	NOTCH3 Activation and Transmission of Signal to the Nucleus	IEA
R-HSA-9013507	NOTCH3 Activation and Transmission of Signal to the Nucleus	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C026486	1,2,5,6-dibenzanthracene	1,2,5,6-dibenzanthracene results in increased expression of JAG2 mRNA	26377693
C049325	1,2-dithiol-3-thione	1,2-dithiol-3-thione results in decreased expression of JAG2 mRNA	19162173
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
C532162	2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	[PIK3CA gene mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine] which results in decreased expression of JAG2 mRNA	20453058
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of JAG2 mRNA	19114083
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 JAG2 mRNA	19150397
C496492	abrine	abrine results in decreased expression of JAG2 mRNA	31054353
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of JAG2 mRNA	16483693
D001151	Arsenic	Arsenic affects the methylation of JAG2 gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of JAG2 mRNA	23497375
C015001	arsenite	arsenite results in increased expression of JAG2 mRNA	18191166
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased expression of JAG2 mRNA	29523930
D001507	Beclomethasone	Beclomethasone results in increased expression of JAG2 mRNA	23656298
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of JAG2 mRNA	21569818
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of JAG2 mRNA	26377693
C006780	bisphenol A	bisphenol A affects the expression of JAG2 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of JAG2 mRNA	22576693
C006780	bisphenol A	bisphenol A results in decreased expression of JAG2 mRNA	26063408
C006780	bisphenol A	bisphenol A results in decreased methylation of JAG2 promoter	27312807
C006780	bisphenol A	bisphenol A affects the expression of JAG2 mRNA	25181051; 30816183;
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of JAG2 mRNA	12160620
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of JAG2 protein	25118938
D019256	Cadmium Chloride	JAG2 mutant form inhibits the reaction [Cadmium Chloride results in increased cleavage of NOTCH1 protein]	25118938
D019256	Cadmium Chloride	JAG2 mutant form inhibits the reaction [Cadmium Chloride results in increased phosphorylation of AKT1 protein]	25118938
D002117	Calcitriol	Calcitriol results in decreased expression of JAG2 mRNA	16002434
D002117	Calcitriol	Calcitriol results in increased expression of JAG2 mRNA	26485663
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of JAG2 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of JAG2 mRNA]	31150632
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of JAG2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of JAG2 mRNA	27392435
D002945	Cisplatin	[Piroxicam co-treated with Cisplatin] results in decreased expression of JAG2 mRNA	21858171
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of JAG2 mRNA	19320972
C018021	cobaltous chloride	cobaltous chloride results in increased expression of JAG2 mRNA	19376846
D003042	Cocaine	Cocaine affects the expression of JAG2 mRNA	20187946
D003300	Copper	[Disulfiram binds to Copper] which results in increased expression of JAG2 mRNA	24690739
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of JAG2 mRNA	20971185
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of JAG2 mRNA	28085963
D004221	Disulfiram	[Disulfiram binds to Copper] which results in increased expression of JAG2 mRNA	24690739
D004317	Doxorubicin	Doxorubicin results in decreased expression of JAG2 mRNA	16404146
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of JAG2 mRNA	30165855
D000431	Ethanol	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of JAG2 mRNA	17606305
D017313	Fenretinide	Fenretinide results in increased expression of JAG2 mRNA	28973697
C069837	fullerene C60	fullerene C60 results in increased expression of JAG2 mRNA	19167457
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
C000593030	GSK-J4	GSK-J4 results in decreased expression of JAG2 mRNA	29301935
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of JAG2 mRNA	27392435
D007649	Ketamine	Ketamine results in decreased expression of JAG2 mRNA	20080153
C500085	muraglitazar	muraglitazar results in decreased expression of JAG2 mRNA	21515302
D009532	Nickel	Nickel affects the expression of JAG2 mRNA	14575637
D009532	Nickel	trichostatin A inhibits the reaction [Nickel affects the expression of JAG2 mRNA]	14575637
C028007	nickel monoxide	nickel monoxide results in increased expression of JAG2 mRNA	19167457
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of JAG2 mRNA	20971185
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
C101814	perfluoro-n-undecanoic acid	perfluoro-n-undecanoic acid results in increased expression of JAG2 mRNA	23602845
C058305	phenethyl isothiocyanate	phenethyl isothiocyanate results in increased expression of JAG2 mRNA	22039516
D010894	Piroxicam	[Piroxicam co-treated with Cisplatin] results in decreased expression of JAG2 mRNA	21858171
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with Ethanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of JAG2 mRNA	29432896
D000077154	Rosiglitazone	Rosiglitazone results in decreased expression of JAG2 mRNA	21515302
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of JAG2 mRNA]	31150632
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of JAG2 mRNA	25895662
D018030	Silver Compounds	Silver Compounds results in decreased expression of JAG2 mRNA	29703973
D012906	Smoke	Smoke results in decreased expression of JAG2 mRNA	21095227
C017947	sodium arsenite	sodium arsenite results in increased expression of JAG2 mRNA	29301061
C025462	sulindac sulfide	sulindac sulfide results in increased expression of JAG2 mRNA	16184548
C087114	tebuconazole	tebuconazole results in decreased expression of JAG2 mRNA	30458266
C501413	tesaglitazar	tesaglitazar results in decreased expression of JAG2 mRNA	21515302
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of JAG2 mRNA	27913140
D013853	Thioacetamide	Thioacetamide affects the methylation of JAG2 promoter	25151969
C012589	trichostatin A	trichostatin A inhibits the reaction [Nickel affects the expression of JAG2 mRNA]	14575637
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of JAG2 mRNA	19042947
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in decreased expression of JAG2 mRNA	26179874
D014520	Urethane	Urethane results in decreased expression of JAG2 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of JAG2 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of JAG2 mRNA	19101580
D014635	Valproic Acid	Valproic Acid results in increased methylation of JAG2 gene	29154799
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of JAG2 gene	25560391
C025643	vinclozolin	vinclozolin results in decreased expression of JAG2 mRNA	23034163

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0106	Calcium
KW-0217	Developmental protein
KW-1015	Disulfide bond
KW-0245	EGF-like domain
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0914	Notch signaling pathway
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR001774	DSL
IPR001881	EGF-like_Ca-bd_dom
IPR013032	EGF-like_CS
IPR000742	EGF-like_dom
IPR000152	EGF-type_Asp/Asn_hydroxyl_site
IPR018097	EGF_Ca-bd_CS
IPR009030	Growth_fac_rcpt_cys_sf
IPR033108	Jag2
IPR026219	Jagged/Serrate
IPR011651	Notch_ligand_N
IPR001007	VWF_dom

PROSITE

PROSITE ID	PROSITE Term
PS00010	ASX_HYDROXYL
PS51051	DSL
PS00022	EGF_1
PS01186	EGF_2
PS50026	EGF_3
PS01187	EGF_CA
PS50184	VWFC_2

Pfam

Pfam ID	Pfam Term
PF01414	DSL
PF00008	EGF
PF07645	EGF_CA
PF12661	hEGF
PF07657	MNNL

Gene: JAG2

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

There is no orthologous record for this gene !

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction