CleftGeneDB-Search

Gene: CRISPLD2

Basic information

Tag	Content
Uniprot ID	Q9H0B8; D3DUM0; Q6P590; Q6UWH0; Q6UXC6; Q96IB1; Q96K61;
Entrez ID	83716
Genbank protein ID	CAB66795.1; BAB55081.1; AAH07689.1; AAQ89150.1; AAH63012.1; EAW95469.1; AAQ88779.1; EAW95468.1;
Genbank nucleotide ID	NM_031476.3; XM_005256190.1;
Ensembl protein ID	ENSP00000454858; ENSP00000262424; ENSP00000457655;
Ensembl nucleotide ID	ENSG00000103196
Gene name	Cysteine-rich secretory protein LCCL domain-containing 2
Gene symbol	CRISPLD2
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	20815724; 21800413; 17616516; 20662919; 25496823;
Functional description	Promotes matrix assembly.
Sequence	MSCVLGGVIP LGLLFLVCGS QGYLLPNVTL LEELLSKYQH NESHSRVRRA IPREDKEEIL 60 MLHNKLRGQV QPQASNMEYM TWDDELEKSA AAWASQCIWE HGPTSLLVSI GQNLGAHWGR 120 YRSPGFHVQS WYDEVKDYTY PYPSECNPWC PERCSGPMCT HYTQIVWATT NKIGCAVNTC 180 RKMTVWGEVW ENAVYFVCNY SPKGNWIGEA PYKNGRPCSE CPPSYGGSCR NNLCYREETY 240 TPKPETDEMN EVETAPIPEE NHVWLQPRVM RPTKPKKTSA VNYMTQVVRC DTKMKDRCKG 300 STCNRYQCPA GCLNHKAKIF GTLFYESSSS ICRAAIHYGI LDDKGGLVDI TRNGKVPFFV 360 KSERHGVQSL SKYKPSSSFM VSKVKVQDLD CYTTVAQLCP FEKPATHCPR IHCPAHCKDE 420 PSYWAPVFGT NIYADTSSIC KTAVHAGVIS NESGGDVDVM PVDKKKTYVG SLRNGVQSES 480 LGTPRDGKAF RIFAVRQ 497

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	CRISPLD2	505329	A6QLZ7		Bos taurus	Prediction	More>>
1:1 ortholog	CRISPLD2	489677	E2QU10		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	CRISPLD2	102186984	A0A452FWH8		Capra hircus	Prediction	More>>
1:1 ortholog	CRISPLD2	100070252	A0A3Q2GZC0		Equus caballus	Prediction	More>>
1:1 ortholog	CRISPLD2	83716	Q9H0B8	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Crispld2	78892	Q8BZQ2		Mus musculus	Prediction	More>>
1:1 ortholog	CRISPLD2	454288	K7A8K8		Pan troglodytes	Prediction	More>>
1:1 ortholog	CRISPLD2		K7GSW9		Sus scrofa	Prediction	More>>
1:1 ortholog	Crispld2	171547	G3V9T1		Rattus norvegicus	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
CRISPLD2	rs1546124	Generation sequencing	25496823
CRISPLD2	rs1546124	PCR-DHPLC	21800413
CRISPLD2	rs1546124	Genotyping	20815724
CRISPLD2	rs2326398	Genotyping	20815724
CRISPLD2	rs8061351	Genotyping	20815724
CRISPLD2	rs1546124	single-marker and haplotype analyses	20662919
CRISPLD2	rs4783099	single-marker and haplotype analyses	20662919
CRISPLD2	rs16974880	single-marker and haplotype analyses	20662919
CRISPLD2	rs1546124	Linkage disequilibrium analysis	17616516
CRISPLD2	rs8061351	Linkage disequilibrium analysis	17616516
CRISPLD2	rs2326398	Linkage disequilibrium analysis	17616516
CRISPLD2	c.965C>G; p.T322S	WES and Sanger sequencing	26449438
CRISPLD2	rs1546124	Sequencing	25496823

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs761897209	p.Ser2Arg	missense variant	-	NC_000016.10:g.84838501C>G	ExAC,gnomAD
rs767752138	p.Cys3Arg	missense variant	-	NC_000016.10:g.84838502T>C	ExAC,gnomAD
rs750608727	p.Val4Ile	missense variant	-	NC_000016.10:g.84838505G>A	ExAC,TOPMed,gnomAD
rs1246528021	p.Leu5Pro	missense variant	-	NC_000016.10:g.84838509T>C	gnomAD
rs1437734188	p.Pro10Leu	missense variant	-	NC_000016.10:g.84838524C>T	gnomAD
COSM704523	p.Pro10Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84838523C>T	NCI-TCGA Cosmic
rs755939119	p.Gly12Trp	missense variant	-	NC_000016.10:g.84838529G>T	ExAC,gnomAD
rs1313173839	p.Leu13Arg	missense variant	-	NC_000016.10:g.84838533T>G	TOPMed
rs766010932	p.Leu13Met	missense variant	-	NC_000016.10:g.84838532C>A	TOPMed,gnomAD
rs1278289948	p.Leu14Arg	missense variant	-	NC_000016.10:g.84838536T>G	TOPMed
rs1395574123	p.Val17Gly	missense variant	-	NC_000016.10:g.84838545T>G	gnomAD
rs1405873290	p.Cys18Gly	missense variant	-	NC_000016.10:g.84838547T>G	gnomAD
rs1320701492	p.Cys18Ser	missense variant	-	NC_000016.10:g.84838548G>C	TOPMed
rs778841679	p.Gly19Arg	missense variant	-	NC_000016.10:g.84838550G>A	ExAC,gnomAD
rs757875800	p.Ser20Pro	missense variant	-	NC_000016.10:g.84838553T>C	ExAC,gnomAD
COSM3889100	p.Ser20Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84838554C>T	NCI-TCGA Cosmic
rs147872508	p.Gly22Asp	missense variant	-	NC_000016.10:g.84838560G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147872508	p.Gly22Ala	missense variant	-	NC_000016.10:g.84838560G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu25Gln	missense variant	-	NC_000016.10:g.84838569T>A	NCI-TCGA
rs141769268	p.Pro26Leu	missense variant	-	NC_000016.10:g.84838572C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro26Arg	missense variant	-	NC_000016.10:g.84838572C>G	NCI-TCGA
rs775994375	p.Asn27Ser	missense variant	-	NC_000016.10:g.84838575A>G	ExAC,gnomAD
rs139901174	p.Asn27Lys	missense variant	-	NC_000016.10:g.84838576C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs541302905	p.Val28Ile	missense variant	-	NC_000016.10:g.84838577G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1191379626	p.Glu33Lys	missense variant	-	NC_000016.10:g.84838592G>A	gnomAD
rs1171262842	p.Leu34Pro	missense variant	-	NC_000016.10:g.84838596T>C	TOPMed
rs1473008847	p.Leu35Phe	missense variant	-	NC_000016.10:g.84838598C>T	gnomAD
rs147841355	p.Ser36Arg	missense variant	-	NC_000016.10:g.84838601A>C	ESP,ExAC,TOPMed,gnomAD
rs147841355	p.Ser36Gly	missense variant	-	NC_000016.10:g.84838601A>G	ESP,ExAC,TOPMed,gnomAD
rs1036189956	p.Tyr38Cys	missense variant	-	NC_000016.10:g.84838608A>G	TOPMed,gnomAD
rs760870426	p.Tyr38Ter	stop gained	-	NC_000016.10:g.84838609C>G	ExAC,gnomAD
rs1202233353	p.Gln39Ter	stop gained	-	NC_000016.10:g.84838610C>T	TOPMed
rs1380165384	p.His40Pro	missense variant	-	NC_000016.10:g.84838614A>C	gnomAD
rs753577527	p.Asn41Lys	missense variant	-	NC_000016.10:g.84838618C>G	ExAC,TOPMed,gnomAD
rs146258520	p.Glu42Gln	missense variant	-	NC_000016.10:g.84838619G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs765107752	p.Glu42Asp	missense variant	-	NC_000016.10:g.84838621G>T	ExAC,gnomAD
rs146258520	p.Glu42Lys	missense variant	-	NC_000016.10:g.84838619G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs570628920	p.Glu42Ala	missense variant	-	NC_000016.10:g.84838620A>C	TOPMed
rs201798041	p.Ser43Phe	missense variant	-	NC_000016.10:g.84838623C>T	ExAC,TOPMed,gnomAD
rs201798041	p.Ser43Cys	missense variant	-	NC_000016.10:g.84838623C>G	ExAC,TOPMed,gnomAD
rs746726440	p.His44Gln	missense variant	-	NC_000016.10:g.84838627C>A	ExAC,gnomAD
rs777408980	p.His44Asn	missense variant	-	NC_000016.10:g.84838625C>A	ExAC,gnomAD
NCI-TCGA novel	p.His44Tyr	missense variant	-	NC_000016.10:g.84838625C>T	NCI-TCGA
rs780937131	p.Arg46Gln	missense variant	-	NC_000016.10:g.84838632G>A	ExAC,TOPMed,gnomAD
rs780937131	p.Arg46Pro	missense variant	-	NC_000016.10:g.84838632G>C	ExAC,TOPMed,gnomAD
rs1203552951	p.Arg46Trp	missense variant	-	NC_000016.10:g.84838631C>T	gnomAD
rs780937131	p.Arg46Leu	missense variant	-	NC_000016.10:g.84838632G>T	ExAC,TOPMed,gnomAD
rs569603671	p.Val47Leu	missense variant	-	NC_000016.10:g.84838634G>C	1000Genomes,ExAC,gnomAD
rs569603671	p.Val47Ile	missense variant	-	NC_000016.10:g.84838634G>A	1000Genomes,ExAC,gnomAD
rs200281033	p.Arg48Cys	missense variant	-	NC_000016.10:g.84838637C>T	TOPMed,gnomAD
rs373176982	p.Arg48His	missense variant	-	NC_000016.10:g.84838638G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373176982	p.Arg48Leu	missense variant	-	NC_000016.10:g.84838638G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1364956372	p.Arg49Ser	missense variant	-	NC_000016.10:g.84838642A>C	gnomAD
rs1451011538	p.Ile51Asn	missense variant	-	NC_000016.10:g.84838647T>A	gnomAD
rs148905802	p.Pro52Arg	missense variant	-	NC_000016.10:g.84838650C>G	ESP,TOPMed,gnomAD
rs192527000	p.Pro52Thr	missense variant	-	NC_000016.10:g.84838649C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs906789199	p.Arg53Met	missense variant	-	NC_000016.10:g.84838653G>T	TOPMed
rs773272524	p.Arg53Ser	missense variant	-	NC_000016.10:g.84838654G>T	ExAC,gnomAD
rs1167088388	p.Glu54Lys	missense variant	-	NC_000016.10:g.84838655G>A	TOPMed
rs760678386	p.Asp55His	missense variant	-	NC_000016.10:g.84838658G>C	ExAC,TOPMed,gnomAD
rs760678386	p.Asp55Tyr	missense variant	-	NC_000016.10:g.84838658G>T	ExAC,TOPMed,gnomAD
rs1354023388	p.Asp55Glu	missense variant	-	NC_000016.10:g.84838660C>G	gnomAD
NCI-TCGA novel	p.Asp55Asn	missense variant	-	NC_000016.10:g.84838658G>A	NCI-TCGA
rs771152904	p.Lys56Arg	missense variant	-	NC_000016.10:g.84838662A>G	ExAC,TOPMed,gnomAD
rs1414706887	p.Lys56Glu	missense variant	-	NC_000016.10:g.84838661A>G	gnomAD
rs143526344	p.Glu57Gln	missense variant	-	NC_000016.10:g.84838664G>C	ESP,ExAC,TOPMed,gnomAD
rs143526344	p.Glu57Lys	missense variant	-	NC_000016.10:g.84838664G>A	ESP,ExAC,TOPMed,gnomAD
rs1239115398	p.Glu58Lys	missense variant	-	NC_000016.10:g.84838667G>A	TOPMed
rs759279809	p.Met61Arg	missense variant	-	NC_000016.10:g.84838677T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met61Ile	missense variant	-	NC_000016.10:g.84838678G>T	NCI-TCGA
rs765050757	p.Leu62Val	missense variant	-	NC_000016.10:g.84838679C>G	ExAC,gnomAD
rs762980753	p.Lys65Gln	missense variant	-	NC_000016.10:g.84838688A>C	ExAC,gnomAD
rs958202366	p.Leu66Pro	missense variant	-	NC_000016.10:g.84838692T>C	TOPMed
rs1485224519	p.Arg67Trp	missense variant	-	NC_000016.10:g.84838694C>T	TOPMed,gnomAD
rs764058047	p.Arg67Gln	missense variant	-	NC_000016.10:g.84838695G>A	ExAC,TOPMed,gnomAD
rs138134389	p.Gly68Cys	missense variant	-	NC_000016.10:g.84838697G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs138134389	p.Gly68Ser	missense variant	-	NC_000016.10:g.84838697G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750062740	p.Gln69His	missense variant	-	NC_000016.10:g.84838702G>T	ExAC,gnomAD
rs1436186938	p.Val70Leu	missense variant	-	NC_000016.10:g.84838703G>T	gnomAD
rs1171444844	p.Gln71Arg	missense variant	-	NC_000016.10:g.84838707A>G	gnomAD
rs1299217390	p.Gln73Leu	missense variant	-	NC_000016.10:g.84838713A>T	gnomAD
COSM974467	p.Gln73His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84838714G>T	NCI-TCGA Cosmic
rs1376119814	p.Ala74Ser	missense variant	-	NC_000016.10:g.84838715G>T	gnomAD
rs779319056	p.Ala74Gly	missense variant	-	NC_000016.10:g.84838716C>G	ExAC,gnomAD
rs748718132	p.Ser75Ala	missense variant	-	NC_000016.10:g.84838718T>G	ExAC,gnomAD
rs201061137	p.Asn76Asp	missense variant	-	NC_000016.10:g.84838721A>G	ESP,ExAC,TOPMed,gnomAD
rs778192795	p.Met77Leu	missense variant	-	NC_000016.10:g.84838724A>T	ExAC,gnomAD
rs747113042	p.Glu78Asp	missense variant	-	NC_000016.10:g.84838729G>C	ExAC,TOPMed,gnomAD
rs1346852793	p.Met80Thr	missense variant	-	NC_000016.10:g.84838734T>C	gnomAD
rs1198429295	p.Glu85Lys	missense variant	-	NC_000016.10:g.84845798G>A	TOPMed,gnomAD
rs1166063631	p.Lys88Arg	missense variant	-	NC_000016.10:g.84845808A>G	gnomAD
rs754175411	p.Ser89Pro	missense variant	-	NC_000016.10:g.84845810T>C	ExAC,TOPMed,gnomAD
rs754175411	p.Ser89Thr	missense variant	-	NC_000016.10:g.84845810T>A	ExAC,TOPMed,gnomAD
rs779222420	p.Ser89Cys	missense variant	-	NC_000016.10:g.84845811C>G	ExAC,gnomAD
rs150996650	p.Ala91Val	missense variant	-	NC_000016.10:g.84845817C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140773433	p.Ala92Val	missense variant	-	NC_000016.10:g.84845820C>T	1000Genomes,ESP,ExAC,gnomAD
rs1433381480	p.Trp93Arg	missense variant	-	NC_000016.10:g.84845822T>C	gnomAD
rs1490708545	p.Ala94Asp	missense variant	-	NC_000016.10:g.84845826C>A	TOPMed
rs1477822627	p.Ser95Gly	missense variant	-	NC_000016.10:g.84845828A>G	gnomAD
rs770486357	p.Gln96His	missense variant	-	NC_000016.10:g.84845833G>C	ExAC,TOPMed,gnomAD
rs893338158	p.Trp99Cys	missense variant	-	NC_000016.10:g.84845842G>T	TOPMed
rs776123537	p.Glu100Asp	missense variant	-	NC_000016.10:g.84845845G>T	ExAC,TOPMed,gnomAD
rs758987906	p.His101Tyr	missense variant	-	NC_000016.10:g.84845846C>T	ExAC,gnomAD
rs867948726	p.Gly102Arg	missense variant	-	NC_000016.10:g.84845849G>C	TOPMed,gnomAD
rs867948726	p.Gly102Arg	missense variant	-	NC_000016.10:g.84845849G>A	TOPMed,gnomAD
rs1262750364	p.Pro103His	missense variant	-	NC_000016.10:g.84845853C>A	gnomAD
rs1368420158	p.Pro103Ala	missense variant	-	NC_000016.10:g.84845852C>G	TOPMed
rs762274836	p.Thr104Ile	missense variant	-	NC_000016.10:g.84845856C>T	ExAC,TOPMed,gnomAD
rs762274836	p.Thr104Ser	missense variant	-	NC_000016.10:g.84845856C>G	ExAC,TOPMed,gnomAD
rs774963282	p.Thr104Pro	missense variant	-	NC_000016.10:g.84845855A>C	ExAC,gnomAD
rs12051468	p.Ser105Gly	missense variant	-	NC_000016.10:g.84845858A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12051468	p.Ser105Gly	missense variant	-	NC_000016.10:g.84845858A>G	UniProt,dbSNP
VAR_027256	p.Ser105Gly	missense variant	-	NC_000016.10:g.84845858A>G	UniProt
rs930896733	p.Leu106Val	missense variant	-	NC_000016.10:g.84845861C>G	gnomAD
rs1351980707	p.Leu107Gln	missense variant	-	NC_000016.10:g.84845865T>A	gnomAD
rs1457017738	p.Leu107Met	missense variant	-	NC_000016.10:g.84845864C>A	gnomAD
rs766930703	p.Val108Ala	missense variant	-	NC_000016.10:g.84845868T>C	ExAC,gnomAD
rs1386634034	p.Ser109Phe	missense variant	-	NC_000016.10:g.84845871C>T	gnomAD
rs1047946196	p.Ile110Val	missense variant	-	NC_000016.10:g.84845873A>G	TOPMed,gnomAD
rs567461246	p.Ile110Met	missense variant	-	NC_000016.10:g.84845875C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1047946196	p.Ile110Leu	missense variant	-	NC_000016.10:g.84845873A>C	TOPMed,gnomAD
rs779312224	p.Gly111Arg	missense variant	-	NC_000016.10:g.84845876G>A	ExAC,TOPMed,gnomAD
rs758264200	p.Gln112Glu	missense variant	-	NC_000016.10:g.84845879C>G	ExAC,gnomAD
rs777418530	p.Asn113Ser	missense variant	-	NC_000016.10:g.84845883A>G	ExAC,gnomAD
rs1303006206	p.Gly115Val	missense variant	-	NC_000016.10:g.84845889G>T	gnomAD
rs1203623828	p.Ala116Thr	missense variant	-	NC_000016.10:g.84845891G>A	gnomAD
rs745412278	p.Arg120Lys	missense variant	-	NC_000016.10:g.84845904G>A	ExAC,TOPMed,gnomAD
rs777328564	p.Arg120Ser	missense variant	-	NC_000016.10:g.84849385G>T	ExAC,gnomAD
rs760108981	p.Tyr121Cys	missense variant	-	NC_000016.10:g.84849387A>G	ExAC,gnomAD
rs775437927	p.Arg122His	missense variant	-	NC_000016.10:g.84849390G>A	ExAC,TOPMed,gnomAD
rs765424522	p.Arg122Cys	missense variant	-	NC_000016.10:g.84849389C>T	ExAC,TOPMed,gnomAD
rs751747915	p.Ser123Phe	missense variant	-	NC_000016.10:g.84849393C>T	ExAC,TOPMed,gnomAD
rs531695495	p.Pro124Leu	missense variant	-	NC_000016.10:g.84849396C>T	1000Genomes,ExAC,gnomAD
rs1293006248	p.Pro124Ala	missense variant	-	NC_000016.10:g.84849395C>G	TOPMed
rs531695495	p.Pro124Gln	missense variant	-	NC_000016.10:g.84849396C>A	1000Genomes,ExAC,gnomAD
rs1253102995	p.Gly125Arg	missense variant	-	NC_000016.10:g.84849398G>A	gnomAD
rs756045553	p.Gly125Val	missense variant	-	NC_000016.10:g.84849399G>T	ExAC,TOPMed,gnomAD
rs756045553	p.Gly125Glu	missense variant	-	NC_000016.10:g.84849399G>A	ExAC,TOPMed,gnomAD
rs1361632221	p.Phe126Leu	missense variant	-	NC_000016.10:g.84849401T>C	gnomAD
rs779980635	p.His127Tyr	missense variant	-	NC_000016.10:g.84849404C>T	ExAC,TOPMed,gnomAD
rs748774112	p.His127Arg	missense variant	-	NC_000016.10:g.84849405A>G	ExAC,TOPMed,gnomAD
rs1464540842	p.Gln129Ter	stop gained	-	NC_000016.10:g.84849410C>T	gnomAD
rs1169987345	p.Ser130Cys	missense variant	-	NC_000016.10:g.84849414C>G	TOPMed,gnomAD
rs1169987345	p.Ser130Phe	missense variant	-	NC_000016.10:g.84849414C>T	TOPMed,gnomAD
rs747782464	p.Tyr132His	missense variant	-	NC_000016.10:g.84849419T>C	ExAC
rs146382941	p.Asp133Glu	missense variant	-	NC_000016.10:g.84849424C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs146382941	p.Asp133Glu	missense variant	-	NC_000016.10:g.84849424C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp133Val	missense variant	-	NC_000016.10:g.84849423A>T	NCI-TCGA
rs1048164869	p.Glu134Ter	stop gained	-	NC_000016.10:g.84849425G>T	TOPMed
rs1048164869	p.Glu134Lys	missense variant	-	NC_000016.10:g.84849425G>A	TOPMed
rs973911233	p.Val135Met	missense variant	-	NC_000016.10:g.84849428G>A	TOPMed,gnomAD
rs973911233	p.Val135Leu	missense variant	-	NC_000016.10:g.84849428G>C	TOPMed,gnomAD
rs1366613428	p.Lys136Glu	missense variant	-	NC_000016.10:g.84849431A>G	gnomAD
rs1297496215	p.Asp137Ala	missense variant	-	NC_000016.10:g.84849435A>C	gnomAD
rs1297496215	p.Asp137Gly	missense variant	-	NC_000016.10:g.84849435A>G	UniProt,dbSNP
VAR_074672	p.Asp137Gly	missense variant	-	NC_000016.10:g.84849435A>G	UniProt
rs1297496215	p.Asp137Gly	missense variant	-	NC_000016.10:g.84849435A>G	gnomAD
rs770225087	p.Thr139Asn	missense variant	-	NC_000016.10:g.84849441C>A	ExAC,gnomAD
rs199977606	p.Tyr140Cys	missense variant	-	NC_000016.10:g.84849444A>G	1000Genomes
rs368401038	p.Tyr140His	missense variant	-	NC_000016.10:g.84849443T>C	ESP,TOPMed
rs1273191970	p.Pro141Ser	missense variant	-	NC_000016.10:g.84849446C>T	gnomAD
rs145249439	p.Pro141Leu	missense variant	-	NC_000016.10:g.84849447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145249439	p.Pro141His	missense variant	-	NC_000016.10:g.84849447C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764209964	p.Tyr142Phe	missense variant	-	NC_000016.10:g.84849450A>T	ExAC,TOPMed,gnomAD
rs1245813711	p.Tyr142Ter	stop gained	-	NC_000016.10:g.84849451C>G	gnomAD
rs372363505	p.Pro143Thr	missense variant	-	NC_000016.10:g.84849452C>A	ESP,ExAC,TOPMed,gnomAD
rs750229143	p.Pro143Arg	missense variant	-	NC_000016.10:g.84849453C>G	ExAC,gnomAD
rs750229143	p.Pro143Leu	missense variant	-	NC_000016.10:g.84849453C>T	ExAC,gnomAD
rs372363505	p.Pro143Ser	missense variant	-	NC_000016.10:g.84849452C>T	ESP,ExAC,TOPMed,gnomAD
rs372363505	p.Pro143Ala	missense variant	-	NC_000016.10:g.84849452C>G	ESP,ExAC,TOPMed,gnomAD
rs138500867	p.Ser144Arg	missense variant	-	NC_000016.10:g.84849457C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1477090902	p.Ser144Asn	missense variant	-	NC_000016.10:g.84849456G>A	TOPMed,gnomAD
rs377296604	p.Glu145Gln	missense variant	-	NC_000016.10:g.84849458G>C	ESP,ExAC,TOPMed,gnomAD
rs377296604	p.Glu145Lys	missense variant	-	NC_000016.10:g.84849458G>A	ESP,ExAC,TOPMed,gnomAD
rs377296604	p.Glu145Ter	stop gained	-	NC_000016.10:g.84849458G>T	ESP,ExAC,TOPMed,gnomAD
rs777510550	p.Glu145Asp	missense variant	-	NC_000016.10:g.84849460G>C	ExAC,TOPMed,gnomAD
rs1162907615	p.Cys146Gly	missense variant	-	NC_000016.10:g.84849461T>G	gnomAD
rs1162907615	p.Cys146Arg	missense variant	-	NC_000016.10:g.84849461T>C	gnomAD
rs149652155	p.Asn147His	missense variant	-	NC_000016.10:g.84849464A>C	ESP,TOPMed
rs746266269	p.Asn147Ser	missense variant	-	NC_000016.10:g.84849465A>G	ExAC,gnomAD
rs780473680	p.Trp149Ser	missense variant	-	NC_000016.10:g.84849471G>C	ExAC,TOPMed,gnomAD
rs1283452990	p.Pro151Leu	missense variant	-	NC_000016.10:g.84849477C>T	TOPMed
rs949995417	p.Glu152Gly	missense variant	-	NC_000016.10:g.84849480A>G	TOPMed
rs1401256139	p.Glu152Asp	missense variant	-	NC_000016.10:g.84849481G>C	TOPMed
rs949995417	p.Glu152Ala	missense variant	-	NC_000016.10:g.84849480A>C	TOPMed
rs1404144209	p.Glu152Lys	missense variant	-	NC_000016.10:g.84849479G>A	TOPMed
rs749787415	p.Arg153Gly	missense variant	-	NC_000016.10:g.84849482A>G	ExAC,TOPMed,gnomAD
rs761818985	p.Gly156Val	missense variant	-	NC_000016.10:g.84849492G>T	ExAC,gnomAD
rs527475737	p.Pro157Thr	missense variant	-	NC_000016.10:g.84849494C>A	gnomAD
rs527475737	p.Pro157Ser	missense variant	-	NC_000016.10:g.84849494C>T	gnomAD
rs200626683	p.Thr160Met	missense variant	-	NC_000016.10:g.84849504C>T	ExAC,TOPMed,gnomAD
rs200222373	p.Thr160Pro	missense variant	-	NC_000016.10:g.84849503A>C	ExAC,gnomAD
rs753780800	p.His161Arg	missense variant	-	NC_000016.10:g.84849507A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His161Gln	missense variant	-	NC_000016.10:g.84849508C>A	NCI-TCGA
rs759515960	p.Thr163Ser	missense variant	-	NC_000016.10:g.84849512A>T	ExAC,TOPMed,gnomAD
rs1216492030	p.Gln164Arg	missense variant	-	NC_000016.10:g.84849516A>G	TOPMed,gnomAD
rs1200556723	p.Val166Ala	missense variant	-	NC_000016.10:g.84850572T>C	gnomAD
rs199497599	p.Trp167Ser	missense variant	-	NC_000016.10:g.84850575G>C	1000Genomes
rs769688566	p.Trp167Cys	missense variant	-	NC_000016.10:g.84850576G>C	ExAC,gnomAD
rs775626498	p.Ala168Thr	missense variant	-	NC_000016.10:g.84850577G>A	ExAC
rs1280091250	p.Ala168Val	missense variant	-	NC_000016.10:g.84850578C>T	gnomAD
rs1476948268	p.Thr169Ala	missense variant	-	NC_000016.10:g.84850580A>G	gnomAD
COSM2155153	p.Thr170Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84850583A>T	NCI-TCGA Cosmic
rs1041555756	p.Asn171Lys	missense variant	-	NC_000016.10:g.84850588C>G	TOPMed,gnomAD
rs773922119	p.Asn171Thr	missense variant	-	NC_000016.10:g.84850587A>C	ExAC,TOPMed,gnomAD
rs1398922014	p.Lys172Gln	missense variant	-	NC_000016.10:g.84850589A>C	gnomAD
rs767227669	p.Gly174Ser	missense variant	-	NC_000016.10:g.84850595G>A	ExAC,TOPMed,gnomAD
rs750016537	p.Cys175Phe	missense variant	-	NC_000016.10:g.84850599G>T	ExAC,gnomAD
rs765577582	p.Val177Gly	missense variant	-	NC_000016.10:g.84850605T>G	ExAC,gnomAD
COSM4912153	p.Asn178Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84850608A>G	NCI-TCGA Cosmic
rs143085896	p.Thr179Ser	missense variant	-	NC_000016.10:g.84850611C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368719942	p.Arg181Pro	missense variant	-	NC_000016.10:g.84850617G>C	ESP,ExAC,TOPMed,gnomAD
rs368719942	p.Arg181Leu	missense variant	-	NC_000016.10:g.84850617G>T	ESP,ExAC,TOPMed,gnomAD
rs1221014824	p.Arg181Trp	missense variant	-	NC_000016.10:g.84850616C>T	TOPMed,gnomAD
rs368719942	p.Arg181Gln	missense variant	-	NC_000016.10:g.84850617G>A	ESP,ExAC,TOPMed,gnomAD
rs747136317	p.Met183Lys	missense variant	-	NC_000016.10:g.84850623T>A	ExAC,gnomAD
rs747136317	p.Met183Thr	missense variant	-	NC_000016.10:g.84850623T>C	ExAC,gnomAD
rs757246124	p.Met183Ile	missense variant	-	NC_000016.10:g.84850624G>A	ExAC,TOPMed,gnomAD
rs757246124	p.Met183Ile	missense variant	-	NC_000016.10:g.84850624G>C	ExAC,TOPMed,gnomAD
rs781524453	p.Val185Leu	missense variant	-	NC_000016.10:g.84850628G>C	ExAC,TOPMed
rs1005694320	p.Glu188Gln	missense variant	-	NC_000016.10:g.84850637G>C	TOPMed
rs1242500827	p.Trp190Leu	missense variant	-	NC_000016.10:g.84850644G>T	gnomAD
rs1157400410	p.Asn192Thr	missense variant	-	NC_000016.10:g.84850650A>C	TOPMed
rs572744640	p.Asn192Lys	missense variant	-	NC_000016.10:g.84850651C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs768656898	p.Ala193Thr	missense variant	-	NC_000016.10:g.84850652G>A	ExAC,gnomAD
rs541718336	p.Ala193Val	missense variant	-	NC_000016.10:g.84850653C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr195Ter	stop gained	-	NC_000016.10:g.84850660C>G	NCI-TCGA
rs1323234090	p.Phe196Leu	missense variant	-	NC_000016.10:g.84850661T>C	gnomAD
NCI-TCGA novel	p.Phe196Leu	missense variant	-	NC_000016.10:g.84850663T>G	NCI-TCGA
rs200065021	p.Val197Ile	missense variant	-	NC_000016.10:g.84850664G>A	ESP,ExAC,TOPMed,gnomAD
rs1402383642	p.Cys198Ter	stop gained	-	NC_000016.10:g.84850669C>A	gnomAD
rs760320435	p.Asn199Ser	missense variant	-	NC_000016.10:g.84850671A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr200Ter	stop gained	-	NC_000016.10:g.84850675T>G	NCI-TCGA
rs1448659159	p.Ser201Ala	missense variant	-	NC_000016.10:g.84850676T>G	gnomAD
rs753278157	p.Ser201Cys	missense variant	-	NC_000016.10:g.84850677C>G	ExAC,TOPMed,gnomAD
rs753278157	p.Ser201Phe	missense variant	-	NC_000016.10:g.84850677C>T	ExAC,TOPMed,gnomAD
rs753074972	p.Lys203Gln	missense variant	-	NC_000016.10:g.84850682A>C	ExAC,TOPMed,gnomAD
rs753074972	p.Lys203Glu	missense variant	-	NC_000016.10:g.84850682A>G	ExAC,TOPMed,gnomAD
rs754183179	p.Asn205Thr	missense variant	-	NC_000016.10:g.84854734A>C	ExAC,TOPMed,gnomAD
rs754183179	p.Asn205Ser	missense variant	-	NC_000016.10:g.84854734A>G	ExAC,TOPMed,gnomAD
rs1177692639	p.Pro211Ala	missense variant	-	NC_000016.10:g.84854751C>G	gnomAD
rs1237935863	p.Pro211Arg	missense variant	-	NC_000016.10:g.84854752C>G	gnomAD
rs1177692639	p.Pro211Ser	missense variant	-	NC_000016.10:g.84854751C>T	gnomAD
rs1395492483	p.Lys213Glu	missense variant	-	NC_000016.10:g.84854757A>G	gnomAD
rs139996756	p.Gly215Asp	missense variant	-	NC_000016.10:g.84854764G>A	ESP,ExAC,TOPMed,gnomAD
rs145328449	p.Arg216Trp	missense variant	-	NC_000016.10:g.84854766C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199608437	p.Arg216Gln	missense variant	-	NC_000016.10:g.84854767G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1402632786	p.Pro217Ser	missense variant	-	NC_000016.10:g.84854769C>T	TOPMed,gnomAD
rs1330991007	p.Cys218Ser	missense variant	-	NC_000016.10:g.84854773G>C	gnomAD
rs1368008159	p.Glu220Ala	missense variant	-	NC_000016.10:g.84854779A>C	gnomAD
rs1298956805	p.Pro222Leu	missense variant	-	NC_000016.10:g.84854785C>T	gnomAD
rs562251943	p.Pro222Ala	missense variant	-	NC_000016.10:g.84854784C>G	1000Genomes
rs1051557895	p.Pro223His	missense variant	-	NC_000016.10:g.84854788C>A	TOPMed
rs756825859	p.Ser224Thr	missense variant	-	NC_000016.10:g.84854791G>C	ExAC,gnomAD
rs1330392415	p.Ser224Gly	missense variant	-	NC_000016.10:g.84854790A>G	gnomAD
rs532659564	p.Tyr225Cys	missense variant	-	NC_000016.10:g.84854794A>G	ExAC,TOPMed,gnomAD
rs769352678	p.Gly227Ser	missense variant	-	NC_000016.10:g.84854799G>A	ExAC,TOPMed,gnomAD
rs1489275311	p.Arg230Gly	missense variant	-	NC_000016.10:g.84854808A>G	TOPMed,gnomAD
rs1489275311	p.Arg230Trp	missense variant	-	NC_000016.10:g.84854808A>T	TOPMed,gnomAD
rs1265715162	p.Asn232Ser	missense variant	-	NC_000016.10:g.84854815A>G	TOPMed,gnomAD
rs748497929	p.Leu233Ser	missense variant	-	NC_000016.10:g.84854818T>C	ExAC,gnomAD
rs772540506	p.Cys234Arg	missense variant	-	NC_000016.10:g.84854820T>C	ExAC,gnomAD
rs377586344	p.Arg236Ter	stop gained	-	NC_000016.10:g.84854826C>T	ESP,ExAC,TOPMed,gnomAD
rs761262421	p.Arg236Gln	missense variant	-	NC_000016.10:g.84854827G>A	ExAC,TOPMed,gnomAD
rs1459656319	p.Glu237Lys	missense variant	-	NC_000016.10:g.84854829G>A	gnomAD
rs1192263529	p.Glu238Gln	missense variant	-	NC_000016.10:g.84866899G>C	TOPMed
rs1288623236	p.Thr239Ser	missense variant	-	NC_000016.10:g.84866903C>G	gnomAD
rs775634299	p.Thr239Pro	missense variant	-	NC_000016.10:g.84866902A>C	ExAC,gnomAD
rs775634299	p.Thr239Ser	missense variant	-	NC_000016.10:g.84866902A>T	ExAC,gnomAD
rs1487557400	p.Thr241Ser	missense variant	-	NC_000016.10:g.84866909C>G	gnomAD
rs537394347	p.Pro242Arg	missense variant	-	NC_000016.10:g.84866912C>G	1000Genomes,ExAC,gnomAD
rs537394347	p.Pro242Leu	missense variant	-	NC_000016.10:g.84866912C>T	1000Genomes,ExAC,gnomAD
rs761555258	p.Lys243Asn	missense variant	-	NC_000016.10:g.84866916A>T	ExAC,gnomAD
rs767391580	p.Pro244Ala	missense variant	-	NC_000016.10:g.84866917C>G	ExAC,gnomAD
rs750348770	p.Pro244Arg	missense variant	-	NC_000016.10:g.84866918C>G	ExAC,gnomAD
rs1040279851	p.Thr246Met	missense variant	-	NC_000016.10:g.84866924C>T	TOPMed,gnomAD
rs1040279851	p.Thr246Lys	missense variant	-	NC_000016.10:g.84866924C>A	TOPMed,gnomAD
rs1413293653	p.Thr246Ala	missense variant	-	NC_000016.10:g.84866923A>G	TOPMed,gnomAD
rs199707289	p.Asp247Glu	missense variant	-	NC_000016.10:g.84866928C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753223113	p.Asp247Asn	missense variant	-	NC_000016.10:g.84866926G>A	ExAC,gnomAD
rs747413249	p.Glu248Lys	missense variant	-	NC_000016.10:g.84866929G>A	ExAC,gnomAD
rs373648189	p.Glu248Asp	missense variant	-	NC_000016.10:g.84866931G>C	ESP,ExAC,TOPMed,gnomAD
rs746375083	p.Met249Ile	missense variant	-	NC_000016.10:g.84866934G>C	ExAC,gnomAD
rs781599140	p.Met249Thr	missense variant	-	NC_000016.10:g.84866933T>C	ExAC,gnomAD
NCI-TCGA novel	p.Met249Val	missense variant	-	NC_000016.10:g.84866932A>G	NCI-TCGA
rs1341823284	p.Glu251Asp	missense variant	-	NC_000016.10:g.84866940G>T	gnomAD
rs570035929	p.Thr254Met	missense variant	-	NC_000016.10:g.84866948C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1219774383	p.Ala255Val	missense variant	-	NC_000016.10:g.84866951C>T	TOPMed
rs539095345	p.Pro256Leu	missense variant	-	NC_000016.10:g.84866954C>T	1000Genomes,ExAC,gnomAD
rs539095345	p.Pro256Arg	missense variant	-	NC_000016.10:g.84866954C>G	1000Genomes,ExAC,gnomAD
rs1352033412	p.Pro258Ala	missense variant	-	NC_000016.10:g.84866959C>G	gnomAD
rs1223691593	p.Pro258Arg	missense variant	-	NC_000016.10:g.84866960C>G	gnomAD
rs1279995301	p.Glu260Asp	missense variant	-	NC_000016.10:g.84866967A>C	gnomAD
NCI-TCGA novel	p.Glu260Ter	stop gained	-	NC_000016.10:g.84866965G>T	NCI-TCGA
rs1314497649	p.Asn261Tyr	missense variant	-	NC_000016.10:g.84866968A>T	TOPMed,gnomAD
rs150433030	p.His262Asp	missense variant	-	NC_000016.10:g.84866971C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1242622102	p.His262Gln	missense variant	-	NC_000016.10:g.84866973T>A	gnomAD
rs1458330703	p.Val263Leu	missense variant	-	NC_000016.10:g.84866974G>C	gnomAD
rs1458330703	p.Val263Ile	missense variant	-	NC_000016.10:g.84866974G>A	gnomAD
rs113926835	p.Val263Asp	missense variant	-	NC_000016.10:g.84866975T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199795514	p.Trp264Cys	missense variant	-	NC_000016.10:g.84866979G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750392265	p.Gln266Glu	missense variant	-	NC_000016.10:g.84866983C>G	ExAC
rs187741570	p.Pro267Gln	missense variant	-	NC_000016.10:g.84866987C>A	1000Genomes,gnomAD
rs187741570	p.Pro267Leu	missense variant	-	NC_000016.10:g.84866987C>T	1000Genomes,gnomAD
rs1412705495	p.Val269Ala	missense variant	-	NC_000016.10:g.84866993T>C	gnomAD
rs962627684	p.Val269Met	missense variant	-	NC_000016.10:g.84866992G>A	TOPMed
rs958808084	p.Met270Lys	missense variant	-	NC_000016.10:g.84866996T>A	TOPMed,gnomAD
rs1248302083	p.Met270Ile	missense variant	-	NC_000016.10:g.84866997G>A	TOPMed
rs114234975	p.Met270Val	missense variant	-	NC_000016.10:g.84866995A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs958808084	p.Met270Thr	missense variant	-	NC_000016.10:g.84866996T>C	TOPMed,gnomAD
COSM4828476	p.Arg271Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84866999G>T	NCI-TCGA Cosmic
rs569725982	p.Pro272His	missense variant	-	NC_000016.10:g.84867002C>A	ExAC,gnomAD
rs569725982	p.Pro272Arg	missense variant	-	NC_000016.10:g.84867002C>G	ExAC,gnomAD
rs766172142	p.Pro272Ser	missense variant	-	NC_000016.10:g.84867001C>T	ExAC,gnomAD
rs778748348	p.Thr273Asn	missense variant	-	NC_000016.10:g.84867005C>A	ExAC,TOPMed,gnomAD
rs778748348	p.Thr273Ser	missense variant	-	NC_000016.10:g.84867005C>G	ExAC,TOPMed,gnomAD
rs1370286919	p.Pro275His	missense variant	-	NC_000016.10:g.84867011C>A	gnomAD
rs143403506	p.Lys276Arg	missense variant	-	NC_000016.10:g.84867014A>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Lys276Asn	missense variant	-	NC_000016.10:g.84867015G>T	NCI-TCGA
rs538277834	p.Lys277Gln	missense variant	-	NC_000016.10:g.84867016A>C	ExAC,gnomAD
rs1318757649	p.Lys277Asn	missense variant	-	NC_000016.10:g.84867018A>T	TOPMed,gnomAD
rs538277834	p.Lys277Glu	missense variant	-	NC_000016.10:g.84867016A>G	ExAC,gnomAD
rs778905360	p.Thr278Ile	missense variant	-	NC_000016.10:g.84867020C>T	ExAC,TOPMed,gnomAD
rs778905360	p.Thr278Asn	missense variant	-	NC_000016.10:g.84867020C>A	ExAC,TOPMed,gnomAD
rs575028796	p.Ser279Phe	missense variant	-	NC_000016.10:g.84867023C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser279Cys	missense variant	-	NC_000016.10:g.84867023C>G	NCI-TCGA
rs956902217	p.Ala280Glu	missense variant	-	NC_000016.10:g.84867026C>A	TOPMed,gnomAD
rs956902217	p.Ala280Val	missense variant	-	NC_000016.10:g.84867026C>T	TOPMed,gnomAD
rs149615348	p.Met284Ile	missense variant	-	NC_000016.10:g.84867039G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1303803234	p.Thr285Ser	missense variant	-	NC_000016.10:g.84867040A>T	TOPMed
rs766721884	p.Val288Ile	missense variant	-	NC_000016.10:g.84868859G>A	ExAC,TOPMed,gnomAD
rs1235337365	p.Val288Ala	missense variant	-	NC_000016.10:g.84868860T>C	gnomAD
rs148934412	p.Cys290Tyr	missense variant	-	NC_000016.10:g.84868866G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201418783	p.Asp291Gly	missense variant	-	NC_000016.10:g.84868869A>G	ExAC,gnomAD
rs1255843337	p.Lys293Asn	missense variant	-	NC_000016.10:g.84868876G>C	TOPMed
rs866428176	p.Lys293Gln	missense variant	-	NC_000016.10:g.84868874A>C	gnomAD
rs866428176	p.Lys293Glu	missense variant	-	NC_000016.10:g.84868874A>G	gnomAD
rs72799568	p.Met294Leu	missense variant	-	NC_000016.10:g.84868877A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs72799568	p.Met294Val	missense variant	-	NC_000016.10:g.84868877A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752855933	p.Lys295Asn	missense variant	-	NC_000016.10:g.84868882G>C	ExAC,TOPMed,gnomAD
rs778110083	p.Arg297Met	missense variant	-	NC_000016.10:g.84868887G>T	ExAC,TOPMed,gnomAD
rs969445457	p.Arg297Ser	missense variant	-	NC_000016.10:g.84868888G>C	TOPMed
rs1024105519	p.Arg297Gly	missense variant	-	NC_000016.10:g.84868886A>G	TOPMed,gnomAD
rs1336265865	p.Ser301Phe	missense variant	-	NC_000016.10:g.84868899C>T	gnomAD
NCI-TCGA novel	p.Ser301Pro	missense variant	-	NC_000016.10:g.84868898T>C	NCI-TCGA
rs747188693	p.Thr302Met	missense variant	-	NC_000016.10:g.84868902C>T	ExAC,TOPMed,gnomAD
rs781141782	p.Asn304Ser	missense variant	-	NC_000016.10:g.84868908A>G	ExAC,gnomAD
rs1406103502	p.Gln307Glu	missense variant	-	NC_000016.10:g.84872446C>G	TOPMed
rs564309410	p.Pro309Ser	missense variant	-	NC_000016.10:g.84872452C>T	1000Genomes
rs902451759	p.Pro309Leu	missense variant	-	NC_000016.10:g.84872453C>T	TOPMed
rs747697897	p.Gly311Asp	missense variant	-	NC_000016.10:g.84872459G>A	ExAC,TOPMed,gnomAD
rs1251093495	p.His315Tyr	missense variant	-	NC_000016.10:g.84872470C>T	gnomAD
rs1489038236	p.Lys316Glu	missense variant	-	NC_000016.10:g.84872473A>G	gnomAD
rs201861816	p.Ala317Val	missense variant	-	NC_000016.10:g.84872477C>T	ESP,ExAC,TOPMed,gnomAD
rs201861816	p.Ala317Gly	missense variant	-	NC_000016.10:g.84872477C>G	ESP,ExAC,TOPMed,gnomAD
rs1003197762	p.Ala317Thr	missense variant	-	NC_000016.10:g.84872476G>A	TOPMed,gnomAD
rs1194396731	p.Lys318Arg	missense variant	-	NC_000016.10:g.84872480A>G	gnomAD
rs372522087	p.Ile319Met	missense variant	-	NC_000016.10:g.84872484C>G	ESP,ExAC,TOPMed,gnomAD
rs533386261	p.Phe320Ser	missense variant	-	NC_000016.10:g.84872486T>C	1000Genomes,ExAC,gnomAD
rs764547273	p.Gly321Val	missense variant	-	NC_000016.10:g.84872489G>T	ExAC,gnomAD
rs721005	p.Thr322Ser	missense variant	-	NC_000016.10:g.84872492C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1301086042	p.Thr322Ser	missense variant	-	NC_000016.10:g.84872491A>T	gnomAD
rs762038885	p.Leu323Val	missense variant	-	NC_000016.10:g.84872494C>G	ExAC,TOPMed,gnomAD
rs201194618	p.Phe324Leu	missense variant	-	NC_000016.10:g.84872499C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs560611349	p.Tyr325Cys	missense variant	-	NC_000016.10:g.84872501A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1313039468	p.Ser327Gly	missense variant	-	NC_000016.10:g.84872506A>G	gnomAD
rs373672055	p.Ser328Leu	missense variant	-	NC_000016.10:g.84872993C>T	1000Genomes,ESP,ExAC,gnomAD
rs748473995	p.Ser329Pro	missense variant	-	NC_000016.10:g.84872995T>C	ExAC,gnomAD
rs773822971	p.Ile331Val	missense variant	-	NC_000016.10:g.84873001A>G	ExAC,gnomAD
rs375824731	p.Arg333Cys	missense variant	-	NC_000016.10:g.84873007C>T	ExAC,TOPMed,gnomAD
rs1168434863	p.Arg333His	missense variant	-	NC_000016.10:g.84873008G>A	TOPMed
COSM6079824	p.Arg333Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84873008G>C	NCI-TCGA Cosmic
rs184915941	p.Ala334Thr	missense variant	-	NC_000016.10:g.84873010G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759809994	p.Ala335Pro	missense variant	-	NC_000016.10:g.84873013G>C	ExAC,TOPMed,gnomAD
rs759809994	p.Ala335Thr	missense variant	-	NC_000016.10:g.84873013G>A	ExAC,TOPMed,gnomAD
rs1254409879	p.Ala335Val	missense variant	-	NC_000016.10:g.84873014C>T	TOPMed
rs765389169	p.Ile336Val	missense variant	-	NC_000016.10:g.84873016A>G	ExAC,gnomAD
rs1196939619	p.His337Gln	missense variant	-	NC_000016.10:g.84873021C>G	TOPMed
rs762699158	p.Tyr338Cys	missense variant	-	NC_000016.10:g.84873023A>G	ExAC,gnomAD
rs200575316	p.Gly339Arg	missense variant	-	NC_000016.10:g.84873025G>A	ExAC,gnomAD
rs34582606	p.Asp343Glu	missense variant	-	NC_000016.10:g.84873039C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs548735529	p.Lys344Met	missense variant	-	NC_000016.10:g.84873041A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys344Arg	missense variant	-	NC_000016.10:g.84873041A>G	NCI-TCGA
rs1309636332	p.Val348Gly	missense variant	-	NC_000016.10:g.84873053T>G	TOPMed
rs536109763	p.Thr351Ile	missense variant	-	NC_000016.10:g.84873062C>T	1000Genomes,ExAC,gnomAD
rs1353177991	p.Thr351Pro	missense variant	-	NC_000016.10:g.84873061A>C	gnomAD
rs1347969464	p.Arg352Gly	missense variant	-	NC_000016.10:g.84873064A>G	gnomAD
COSM3513042	p.Arg352Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84873065G>A	NCI-TCGA Cosmic
rs1221710743	p.Asn353Ser	missense variant	-	NC_000016.10:g.84873068A>G	gnomAD
rs747546737	p.Gly354Arg	missense variant	-	NC_000016.10:g.84873070G>A	ExAC,TOPMed,gnomAD
rs771277704	p.Gly354Glu	missense variant	-	NC_000016.10:g.84873071G>A	ExAC,gnomAD
rs747546737	p.Gly354Trp	missense variant	-	NC_000016.10:g.84873070G>T	ExAC,TOPMed,gnomAD
rs1459556529	p.Lys355Asn	missense variant	-	NC_000016.10:g.84873075G>T	TOPMed
rs776789199	p.Val356Leu	missense variant	-	NC_000016.10:g.84873076G>C	ExAC,TOPMed,gnomAD
rs776789199	p.Val356Phe	missense variant	-	NC_000016.10:g.84873076G>T	ExAC,TOPMed,gnomAD
rs776789199	p.Val356Ile	missense variant	-	NC_000016.10:g.84873076G>A	ExAC,TOPMed,gnomAD
rs770036422	p.Pro357Arg	missense variant	-	NC_000016.10:g.84873080C>G	ExAC,gnomAD
rs1474338913	p.Phe358Leu	missense variant	-	NC_000016.10:g.84873082T>C	TOPMed
rs201353419	p.Val360Met	missense variant	-	NC_000016.10:g.84873088G>A	ExAC,TOPMed,gnomAD
rs201353419	p.Val360Leu	missense variant	-	NC_000016.10:g.84873088G>C	ExAC,TOPMed,gnomAD
rs916485878	p.Lys361Asn	missense variant	-	NC_000016.10:g.84873093G>T	TOPMed
rs1469472532	p.Ser362Cys	missense variant	-	NC_000016.10:g.84873095C>G	TOPMed
rs147512774	p.Arg364Lys	missense variant	-	NC_000016.10:g.84873101G>A	ESP,ExAC,TOPMed,gnomAD
rs1478588542	p.His365Asn	missense variant	-	NC_000016.10:g.84873103C>A	gnomAD
rs138350685	p.Gly366Ser	missense variant	-	NC_000016.10:g.84873106G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753528852	p.Val367Met	missense variant	-	NC_000016.10:g.84873109G>A	ExAC,TOPMed,gnomAD
rs1367941267	p.Gln368Arg	missense variant	-	NC_000016.10:g.84873113A>G	TOPMed,gnomAD
rs758901132	p.Gln368His	missense variant	-	NC_000016.10:g.84873114G>T	ExAC,gnomAD
rs1367941267	p.Gln368Leu	missense variant	-	NC_000016.10:g.84873113A>T	TOPMed,gnomAD
rs984645008	p.Ser369Tyr	missense variant	-	NC_000016.10:g.84873116C>A	TOPMed,gnomAD
rs1433121376	p.Ser371Gly	missense variant	-	NC_000016.10:g.84873121A>G	TOPMed,gnomAD
rs748312260	p.Ser371Arg	missense variant	-	NC_000016.10:g.84873920C>A	ExAC,gnomAD
rs772271835	p.Lys372Arg	missense variant	-	NC_000016.10:g.84873922A>G	ExAC,TOPMed,gnomAD
rs772271835	p.Lys372Thr	missense variant	-	NC_000016.10:g.84873922A>C	ExAC,TOPMed,gnomAD
rs772271835	p.Lys372Ile	missense variant	-	NC_000016.10:g.84873922A>T	ExAC,TOPMed,gnomAD
rs1260814080	p.Lys372Glu	missense variant	-	NC_000016.10:g.84873921A>G	gnomAD
rs746752805	p.Tyr373Asn	missense variant	-	NC_000016.10:g.84873924T>A	ExAC,gnomAD
rs771027402	p.Tyr373Ter	stop gained	-	NC_000016.10:g.84873926C>G	ExAC,gnomAD
rs771027402	p.Tyr373Ter	stop gained	-	NC_000016.10:g.84873926C>A	ExAC,gnomAD
rs1180344478	p.Pro375Ser	missense variant	-	NC_000016.10:g.84873930C>T	gnomAD
rs1180344478	p.Pro375Thr	missense variant	-	NC_000016.10:g.84873930C>A	gnomAD
rs1363266347	p.Ser376Cys	missense variant	-	NC_000016.10:g.84873934C>G	TOPMed,gnomAD
rs759169076	p.Ser377Gly	missense variant	-	NC_000016.10:g.84873936A>G	ExAC,gnomAD
rs867016732	p.Ser378Leu	missense variant	-	NC_000016.10:g.84873940C>T	gnomAD
rs769176721	p.Phe379Leu	missense variant	-	NC_000016.10:g.84873944C>G	ExAC,gnomAD
rs370914708	p.Met380Thr	missense variant	-	NC_000016.10:g.84873946T>C	ExAC,TOPMed,gnomAD
rs144230063	p.Met380Val	missense variant	-	NC_000016.10:g.84873945A>G	ESP,ExAC,TOPMed,gnomAD
rs750814672	p.Val381Leu	missense variant	-	NC_000016.10:g.84873948G>C	ExAC,gnomAD
rs545712912	p.Ser382Thr	missense variant	-	NC_000016.10:g.84873951T>A	1000Genomes,ExAC,gnomAD
rs1331634446	p.Ser382Ter	stop gained	-	NC_000016.10:g.84873952C>A	gnomAD
rs1224751000	p.Lys383Glu	missense variant	-	NC_000016.10:g.84873954A>G	gnomAD
rs983454189	p.Val384Leu	missense variant	-	NC_000016.10:g.84873957G>C	TOPMed
rs1322392407	p.Lys385Ile	missense variant	-	NC_000016.10:g.84873961A>T	gnomAD
NCI-TCGA novel	p.Lys385Glu	missense variant	-	NC_000016.10:g.84873960A>G	NCI-TCGA
rs1359365923	p.Val386Gly	missense variant	-	NC_000016.10:g.84877438T>G	gnomAD
rs367832122	p.Gln387Arg	missense variant	-	NC_000016.10:g.84877441A>G	ExAC,TOPMed,gnomAD
rs1173274096	p.Gln387Ter	stop gained	-	NC_000016.10:g.84877440C>T	TOPMed
COSM3421207	p.Asp388Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84877443G>A	NCI-TCGA Cosmic
rs79001318	p.Asp390Tyr	missense variant	-	NC_000016.10:g.84877449G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs79001318	p.Asp390Asn	missense variant	-	NC_000016.10:g.84877449G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs757572271	p.Cys391Trp	missense variant	-	NC_000016.10:g.84877454C>G	ExAC,TOPMed,gnomAD
rs1244598342	p.Tyr392Phe	missense variant	-	NC_000016.10:g.84877456A>T	gnomAD
rs896320512	p.Tyr392Ter	stop gained	-	NC_000016.10:g.84877457C>G	TOPMed,gnomAD
rs567776165	p.Tyr392His	missense variant	-	NC_000016.10:g.84877455T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200594730	p.Thr393Met	missense variant	-	NC_000016.10:g.84877459C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1013863173	p.Thr393Ala	missense variant	-	NC_000016.10:g.84877458A>G	TOPMed,gnomAD
rs1419608996	p.Thr394Ile	missense variant	-	NC_000016.10:g.84877462C>T	gnomAD
rs550110140	p.Val395Ile	missense variant	-	NC_000016.10:g.84877464G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1239219803	p.Val395Asp	missense variant	-	NC_000016.10:g.84877465T>A	gnomAD
rs550110140	p.Val395Phe	missense variant	-	NC_000016.10:g.84877464G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1452577420	p.Ala396Thr	missense variant	-	NC_000016.10:g.84877467G>A	TOPMed,gnomAD
rs192534557	p.Ala396Asp	missense variant	-	NC_000016.10:g.84877468C>A	1000Genomes,ExAC,gnomAD
rs148726852	p.Leu398Val	missense variant	-	NC_000016.10:g.84877473C>G	ESP,ExAC,TOPMed,gnomAD
rs539002225	p.Cys399Tyr	missense variant	-	NC_000016.10:g.84877477G>A	1000Genomes,ExAC,gnomAD
rs777452684	p.Pro400Leu	missense variant	-	NC_000016.10:g.84877480C>T	ExAC,TOPMed,gnomAD
rs777452684	p.Pro400Gln	missense variant	-	NC_000016.10:g.84877480C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu402Gln	missense variant	-	NC_000016.10:g.84877485G>C	NCI-TCGA
rs961720249	p.Lys403Asn	missense variant	-	NC_000016.10:g.84877490G>C	TOPMed
rs370393756	p.Pro404Arg	missense variant	-	NC_000016.10:g.84877492C>G	ESP,ExAC,TOPMed,gnomAD
rs1315237312	p.Ala405Thr	missense variant	-	NC_000016.10:g.84877494G>A	gnomAD
rs1415125345	p.His407Asp	missense variant	-	NC_000016.10:g.84877500C>G	gnomAD
rs923414526	p.His407Gln	missense variant	-	NC_000016.10:g.84877502C>G	TOPMed,gnomAD
rs1462838807	p.Pro409Arg	missense variant	-	NC_000016.10:g.84877507C>G	gnomAD
rs375408602	p.Pro409Ser	missense variant	-	NC_000016.10:g.84877506C>T	ESP,ExAC,TOPMed,gnomAD
rs374345728	p.Ile411Met	missense variant	-	NC_000016.10:g.84880512C>G	ESP,ExAC,gnomAD
rs150582176	p.His412Tyr	missense variant	-	NC_000016.10:g.84880513C>T	ESP,ExAC,TOPMed,gnomAD
rs150582176	p.His412Asn	missense variant	-	NC_000016.10:g.84880513C>A	ESP,ExAC,TOPMed,gnomAD
rs1002647488	p.Cys413Phe	missense variant	-	NC_000016.10:g.84880517G>T	TOPMed
rs766462225	p.Pro414Ser	missense variant	-	NC_000016.10:g.84880519C>T	ExAC,gnomAD
rs1303825602	p.Pro414Leu	missense variant	-	NC_000016.10:g.84880520C>T	TOPMed,gnomAD
rs766462225	p.Pro414Ala	missense variant	-	NC_000016.10:g.84880519C>G	ExAC,gnomAD
rs765209491	p.Ala415Thr	missense variant	-	NC_000016.10:g.84880522G>A	ExAC,TOPMed,gnomAD
rs765209491	p.Ala415Ser	missense variant	-	NC_000016.10:g.84880522G>T	ExAC,TOPMed,gnomAD
COSM6079820	p.Ala415Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84880522G>C	NCI-TCGA Cosmic
rs1407621974	p.His416Arg	missense variant	-	NC_000016.10:g.84880526A>G	TOPMed
rs752621095	p.Lys418Glu	missense variant	-	NC_000016.10:g.84880531A>G	ExAC,gnomAD
rs961225393	p.Asp419Val	missense variant	-	NC_000016.10:g.84880535A>T	TOPMed,gnomAD
rs371030002	p.Asp419Glu	missense variant	-	NC_000016.10:g.84880536C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp419Asn	missense variant	-	NC_000016.10:g.84880534G>A	NCI-TCGA
rs763668278	p.Glu420Ter	stop gained	-	NC_000016.10:g.84880537G>T	ExAC,TOPMed,gnomAD
rs763668278	p.Glu420Lys	missense variant	-	NC_000016.10:g.84880537G>A	ExAC,TOPMed,gnomAD
rs763668278	p.Glu420Lys	missense variant	-	NC_000016.10:g.84880537G>A	NCI-TCGA
rs750979414	p.Pro421Arg	missense variant	-	NC_000016.10:g.84880541C>G	ExAC,TOPMed,gnomAD
rs750979414	p.Pro421Leu	missense variant	-	NC_000016.10:g.84880541C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro421His	missense variant	-	NC_000016.10:g.84880541C>A	NCI-TCGA
rs780673938	p.Ser422Ala	missense variant	-	NC_000016.10:g.84880543T>G	ExAC,gnomAD
rs1242284853	p.Trp424Ter	stop gained	-	NC_000016.10:g.84880551G>A	gnomAD
rs762567141	p.Trp424Gly	missense variant	-	NC_000016.10:g.84880549T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala425Thr	missense variant	-	NC_000016.10:g.84880552G>A	NCI-TCGA
rs369151118	p.Pro426Arg	missense variant	-	NC_000016.10:g.84880556C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369151118	p.Pro426Leu	missense variant	-	NC_000016.10:g.84880556C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369151118	p.Pro426Leu	missense variant	-	NC_000016.10:g.84880556C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1417890746	p.Val427Met	missense variant	-	NC_000016.10:g.84880558G>A	gnomAD
rs772401417	p.Val427Glu	missense variant	-	NC_000016.10:g.84880559T>A	ExAC,gnomAD
rs773362508	p.Phe428Leu	missense variant	-	NC_000016.10:g.84880563T>G	ExAC,gnomAD
rs1368037119	p.Thr430Ala	missense variant	-	NC_000016.10:g.84880567A>G	gnomAD
rs1322978032	p.Asn431Lys	missense variant	-	NC_000016.10:g.84880572C>A	gnomAD
rs139975503	p.Asn431Ser	missense variant	-	NC_000016.10:g.84880571A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139975503	p.Asn431Ile	missense variant	-	NC_000016.10:g.84880571A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1327245068	p.Ile432Val	missense variant	-	NC_000016.10:g.84880573A>G	TOPMed,gnomAD
rs771225379	p.Tyr433Cys	missense variant	-	NC_000016.10:g.84880577A>G	ExAC,TOPMed,gnomAD
rs35711987	p.Ala434Gly	missense variant	-	NC_000016.10:g.84880580C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35711987	p.Ala434Val	missense variant	-	NC_000016.10:g.84880580C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776813816	p.Ala434Thr	missense variant	-	NC_000016.10:g.84880579G>A	ExAC,gnomAD
rs765014952	p.Asp435Asn	missense variant	-	NC_000016.10:g.84880582G>A	ExAC,gnomAD
rs575919207	p.Asp435Gly	missense variant	-	NC_000016.10:g.84880583A>G	1000Genomes,ExAC,gnomAD
rs765014952	p.Asp435His	missense variant	-	NC_000016.10:g.84880582G>C	ExAC,gnomAD
rs371174242	p.Thr436Asn	missense variant	-	NC_000016.10:g.84889231C>A	ESP,ExAC,TOPMed,gnomAD
rs371174242	p.Thr436Ile	missense variant	-	NC_000016.10:g.84889231C>T	ESP,ExAC,TOPMed,gnomAD
rs780317721	p.Ser437Thr	missense variant	-	NC_000016.10:g.84889233T>A	ExAC,gnomAD
rs768863429	p.Ser438Asn	missense variant	-	NC_000016.10:g.84889237G>A	ExAC,gnomAD
rs553637204	p.Ile439Phe	missense variant	-	NC_000016.10:g.84889239A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs553637204	p.Ile439Val	missense variant	-	NC_000016.10:g.84889239A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1273977128	p.Cys440Phe	missense variant	-	NC_000016.10:g.84889243G>T	gnomAD
rs760319660	p.Val444Met	missense variant	-	NC_000016.10:g.84889254G>A	ExAC,TOPMed,gnomAD
rs776142449	p.Ala446Thr	missense variant	-	NC_000016.10:g.84889260G>A	ExAC,TOPMed,gnomAD
rs759125995	p.Ala446Gly	missense variant	-	NC_000016.10:g.84889261C>G	ExAC,TOPMed,gnomAD
rs759125995	p.Ala446Val	missense variant	-	NC_000016.10:g.84889261C>T	ExAC,TOPMed,gnomAD
rs776142449	p.Ala446Thr	missense variant	-	NC_000016.10:g.84889260G>A	NCI-TCGA
rs774613732	p.Ile449Thr	missense variant	-	NC_000016.10:g.84889270T>C	ExAC,gnomAD
rs774613732	p.Ile449Ser	missense variant	-	NC_000016.10:g.84889270T>G	ExAC,gnomAD
rs1427708179	p.Ile449Phe	missense variant	-	NC_000016.10:g.84889269A>T	gnomAD
rs768067067	p.Ser450Gly	missense variant	-	NC_000016.10:g.84889272A>G	ExAC,gnomAD
rs750921409	p.Asn451Ser	missense variant	-	NC_000016.10:g.84889276A>G	ExAC,TOPMed,gnomAD
rs756544146	p.Asn451Lys	missense variant	-	NC_000016.10:g.84889277C>A	ExAC,TOPMed,gnomAD
rs766380513	p.Glu452Ter	stop gained	-	NC_000016.10:g.84889278G>T	ExAC,gnomAD
rs1324523975	p.Ser453Thr	missense variant	-	NC_000016.10:g.84889282G>C	TOPMed
rs1396864570	p.Gly454Glu	missense variant	-	NC_000016.10:g.84889285G>A	TOPMed
rs779163797	p.Asp456Asn	missense variant	-	NC_000016.10:g.84889290G>A	ExAC,TOPMed,gnomAD
rs758255060	p.Val457Met	missense variant	-	NC_000016.10:g.84889293G>A	ExAC,gnomAD
rs149025682	p.Asp458Glu	missense variant	-	NC_000016.10:g.84889298C>A	ESP,ExAC,TOPMed,gnomAD
rs1360809221	p.Asp458Ala	missense variant	-	NC_000016.10:g.84889297A>C	gnomAD
rs1264005387	p.Val459Ala	missense variant	-	NC_000016.10:g.84889300T>C	gnomAD
rs746949273	p.Val459Met	missense variant	-	NC_000016.10:g.84889299G>A	ExAC,TOPMed,gnomAD
rs949836598	p.Pro461Ala	missense variant	-	NC_000016.10:g.84889305C>G	TOPMed,gnomAD
rs374721152	p.Val462Met	missense variant	-	NC_000016.10:g.84889308G>A	ESP,ExAC,TOPMed,gnomAD
rs374721152	p.Val462Leu	missense variant	-	NC_000016.10:g.84889308G>C	ESP,ExAC,TOPMed,gnomAD
rs1372272606	p.Asp463Val	missense variant	-	NC_000016.10:g.84889312A>T	gnomAD
rs981292423	p.Asp463His	missense variant	-	NC_000016.10:g.84889311G>C	TOPMed
COSM974482	p.Lys465Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84889318A>C	NCI-TCGA Cosmic
rs769376745	p.Lys466Glu	missense variant	-	NC_000016.10:g.84889320A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys466ArgPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.84889319G>-	NCI-TCGA
rs1445029390	p.Thr467Ser	missense variant	-	NC_000016.10:g.84889324C>G	gnomAD
rs201807614	p.Tyr468Cys	missense variant	-	NC_000016.10:g.84889327A>G	ExAC,TOPMed,gnomAD
rs201807614	p.Tyr468Cys	missense variant	-	NC_000016.10:g.84889327A>G	NCI-TCGA,NCI-TCGA Cosmic
rs767869124	p.Val469Met	missense variant	-	NC_000016.10:g.84889329G>A	ExAC,gnomAD
rs761191112	p.Ser471Leu	missense variant	-	NC_000016.10:g.84889336C>T	ExAC,TOPMed,gnomAD
rs1433275597	p.Leu472Phe	missense variant	-	NC_000016.10:g.84889338C>T	gnomAD
rs1433275597	p.Leu472Val	missense variant	-	NC_000016.10:g.84889338C>G	gnomAD
rs1320314936	p.Arg473Ser	missense variant	-	NC_000016.10:g.84889343G>C	TOPMed,gnomAD
rs935435860	p.Arg473Met	missense variant	-	NC_000016.10:g.84889342G>T	TOPMed
rs1384179980	p.Asn474His	missense variant	-	NC_000016.10:g.84889344A>C	gnomAD
rs1230578312	p.Gly475Arg	missense variant	-	NC_000016.10:g.84889347G>A	gnomAD
rs753967824	p.Val476Ile	missense variant	-	NC_000016.10:g.84889350G>A	ExAC,gnomAD
rs765172863	p.Ser478Thr	missense variant	-	NC_000016.10:g.84889356T>A	ExAC,TOPMed,gnomAD
rs74573375	p.Glu479Lys	missense variant	-	NC_000016.10:g.84889359G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775820924	p.Leu481Val	missense variant	-	NC_000016.10:g.84906589C>G	ExAC,TOPMed,gnomAD
rs372392348	p.Gly482Trp	missense variant	-	NC_000016.10:g.84906592G>T	ESP,ExAC,TOPMed,gnomAD
rs151315770	p.Thr483Ser	missense variant	-	NC_000016.10:g.84906595A>T	ESP,ExAC,TOPMed,gnomAD
rs751698551	p.Thr483Ile	missense variant	-	NC_000016.10:g.84906596C>T	ExAC
rs1307027606	p.Pro484Ala	missense variant	-	NC_000016.10:g.84906598C>G	TOPMed
rs199899739	p.Pro484His	missense variant	-	NC_000016.10:g.84906599C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199899739	p.Pro484Leu	missense variant	-	NC_000016.10:g.84906599C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs779616732	p.Arg485Trp	missense variant	-	NC_000016.10:g.84906601C>T	ExAC,gnomAD
rs750379944	p.Arg485Gln	missense variant	-	NC_000016.10:g.84906602G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg485Leu	missense variant	-	NC_000016.10:g.84906602G>T	NCI-TCGA
rs1270506027	p.Asp486Tyr	missense variant	-	NC_000016.10:g.84906604G>T	gnomAD
rs1476873050	p.Asp486Val	missense variant	-	NC_000016.10:g.84906605A>T	gnomAD
rs1380340812	p.Gly487Glu	missense variant	-	NC_000016.10:g.84906608G>A	TOPMed
rs779857159	p.Ala489Val	missense variant	-	NC_000016.10:g.84906614C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala489Thr	missense variant	-	NC_000016.10:g.84906613G>A	NCI-TCGA
rs1413762160	p.Phe490Leu	missense variant	-	NC_000016.10:g.84906616T>C	TOPMed
rs754640127	p.Arg491Trp	missense variant	-	NC_000016.10:g.84906619C>T	ExAC,TOPMed,gnomAD
rs147087796	p.Arg491Gln	missense variant	-	NC_000016.10:g.84906620G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747689189	p.Ile492Thr	missense variant	-	NC_000016.10:g.84906623T>C	ExAC,gnomAD
COSM4063329	p.Ala494Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.84906628G>T	NCI-TCGA Cosmic
rs1303846699	p.Val495Ile	missense variant	-	NC_000016.10:g.84906631G>A	gnomAD
rs1353429061	p.Ter498Cys	stop lost	-	NC_000016.10:g.84906642A>T	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004096	Asthma	disease	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006287	Bronchopulmonary Dysplasia	disease	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0014175	Endometriosis	disease	BEFREE
C0014859	Esophageal Neoplasms	group	BEFREE
C0017636	Glioblastoma	disease	BEFREE
C0023827	liposarcoma	disease	BEFREE
C0023895	Liver diseases	group	CTD_human
C0024115	Lung diseases	group	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030305	Pancreatitis	disease	BEFREE
C0036690	Septicemia	disease	BEFREE
C0086565	Liver Dysfunction	phenotype	CTD_human
C0149504	Encephalopathy, Toxic	disease	CTD_human
C0149521	Pancreatitis, Chronic	disease	BEFREE
C0152018	Esophageal carcinoma	disease	BEFREE
C0153633	Malignant neoplasm of brain	disease	BEFREE
C0154659	Toxic Encephalitis	disease	CTD_human
C0221002	Hyperparathyroidism, Primary	disease	BEFREE
C0235032	Neurotoxicity Syndromes	group	CTD_human
C0238339	Hereditary pancreatitis	disease	BEFREE
C0243026	Sepsis	disease	BEFREE
C0263338	Chronic urticaria	disease	BEFREE
C0271642	Fibrocalculous pancreatic diabetes	disease	BEFREE
C0276496	Familial Alzheimer Disease (FAD)	disease	BEFREE
C0279626	Squamous cell carcinoma of esophagus	disease	BEFREE
C0341471	Idiopathic chronic pancreatitis	disease	BEFREE
C0546837	Malignant neoplasm of esophagus	disease	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1838062	EPILEPSY, LATERAL TEMPORAL LOBE, AUTOSOMAL DOMINANT	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C4021813	Oral cleft	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005539	glycosaminoglycan binding	IBA
GO:0008201	heparin binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0030198	extracellular matrix organization	IEA
GO:0030324	lung development	IEA
GO:0043312	neutrophil degranulation	TAS
GO:0060325	face morphogenesis	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005615	extracellular space	IBA
GO:0030133	transport vesicle	IDA
GO:0031012	extracellular matrix	IEA
GO:0034774	secretory granule lumen	TAS
GO:0070062	extracellular exosome	HDA
GO:1904813	ficolin-1-rich granule lumen	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-168249	Innate Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-6798695	Neutrophil degranulation	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C063609	1,2-dimethyl-4-nitrobenzene	1,2-dimethyl-4-nitrobenzene results in decreased expression of CRISPLD2 mRNA	19784758
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 CRISPLD2 mRNA	29432896
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of CRISPLD2 mRNA	28628672
C404910	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane	2,2-bis(4-hydroxyphenyl)-1,1,1-trichloroethane results in increased expression of CRISPLD2 mRNA	25575267
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of CRISPLD2 mRNA	19114083
C486184	4,4',4''-(4-propyl-((1)H)-pyrazole-1,3,5-triyl) tris-phenol	4,4',4''-(4-propyl-((1)H)-pyrazole-1,3,5-triyl) tris-phenol results in increased expression of CRISPLD2 mRNA	25575267
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CRISPLD2 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of CRISPLD2 mRNA	20382639
C496492	abrine	abrine results in increased expression of CRISPLD2 mRNA	31054353
D000082	Acetaminophen	Acetaminophen affects the expression of CRISPLD2 mRNA	19784758
D000082	Acetaminophen	Acetaminophen results in decreased expression of CRISPLD2 mRNA	19784758
D000082	Acetaminophen	Acetaminophen results in increased expression of CRISPLD2 mRNA	19784758
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of CRISPLD2 gene	27153756
D000395	Air Pollutants, Occupational	Air Pollutants, Occupational results in decreased expression of CRISPLD2 mRNA	23195993
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of CRISPLD2 mRNA	16483693
D000661	Amphetamine	Amphetamine results in increased expression of CRISPLD2 mRNA	30779732
D017632	Asbestos, Serpentine	Asbestos, Serpentine results in increased expression of CRISPLD2 mRNA	21148743
D001280	Atrazine	Atrazine results in increased expression of CRISPLD2 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of CRISPLD2 mRNA	22316170
C543008	bis(4-hydroxyphenyl)sulfone	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of CRISPLD2 mRNA	30951980
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of CRISPLD2 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the methylation of CRISPLD2 intron	30906313
C006780	bisphenol A	bisphenol A results in increased expression of CRISPLD2 mRNA	25575267; 30951980;
C006780	bisphenol A	bisphenol A results in increased methylation of CRISPLD2 promoter	27312807
C006780	bisphenol A	bisphenol A results in increased expression of CRISPLD2 mRNA	12075121; 25181051;
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of CRISPLD2 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of CRISPLD2 mRNA	30951980
D019256	Cadmium Chloride	Cadmium Chloride results in increased expression of CRISPLD2 mRNA	25596134
D002117	Calcitriol	Calcitriol results in decreased expression of CRISPLD2 mRNA	26485663
C081643	candesartan	candesartan results in decreased expression of CRISPLD2 mRNA	14871019
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of CRISPLD2 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of CRISPLD2 mRNA	19784758
D002857	Chromium	Chromium results in decreased expression of CRISPLD2 mRNA	21437242
C031180	chrysene	chrysene results in increased expression of CRISPLD2 mRNA	26377693
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in increased expression of CRISPLD2 mRNA	27392435
D002945	Cisplatin	Cisplatin results in increased expression of CRISPLD2 mRNA	27392435
D004002	Clodronic Acid	Clodronic Acid results in increased expression of CRISPLD2 mRNA	25596134
D003300	Copper	[Disulfiram binds to Copper] which results in decreased expression of CRISPLD2 mRNA	24690739
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of CRISPLD2 mRNA	20971185
D003300	Copper	Copper results in decreased expression of CRISPLD2 mRNA	30556269
D003345	Corticosterone	Corticosterone results in increased expression of CRISPLD2 mRNA	15755911
D003561	Cytarabine	Cytarabine results in decreased expression of CRISPLD2 mRNA	21198554
D000069439	Dasatinib	Dasatinib results in increased expression of CRISPLD2 mRNA	20579391
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of CRISPLD2 mRNA	28628672
D003976	Diazinon	Diazinon results in increased methylation of CRISPLD2 gene	22964155
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of CRISPLD2 mRNA	21266533; 24893172;
D004041	Dietary Fats	Dietary Fats results in decreased expression of CRISPLD2 mRNA	25016146
D004041	Dietary Fats	Dietary Fats results in increased expression of CRISPLD2 mRNA	18042831
D004041	Dietary Fats	[Dietary Fats co-treated with Resveratrol] results in increased expression of CRISPLD2 mRNA	21852083
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of CRISPLD2 mRNA	31163220
D004054	Diethylstilbestrol	Diethylstilbestrol results in increased expression of CRISPLD2 mRNA	25575267
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of CRISPLD2 mRNA	29581250
D004221	Disulfiram	[Disulfiram binds to Copper] which results in decreased expression of CRISPLD2 mRNA	24690739
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CRISPLD2 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of CRISPLD2 mRNA	29803840
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in decreased expression of CRISPLD2 mRNA	30165855
D004958	Estradiol	Estradiol promotes the reaction [ESR2 protein affects the expression of CRISPLD2 mRNA]	20404318
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in increased expression of CRISPLD2 mRNA	17404688
D004958	Estradiol	Estradiol results in increased expression of CRISPLD2 mRNA	25575267
D004964	Estriol	Estriol results in increased expression of CRISPLD2 mRNA	25575267
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of CRISPLD2 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of CRISPLD2 mRNA	12075121; 15901920; 17351261;
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of CRISPLD2 mRNA	23129252
C024565	ethylene dichloride	ethylene dichloride results in increased expression of CRISPLD2 mRNA	28189721
D017313	Fenretinide	Fenretinide results in increased expression of CRISPLD2 mRNA	28973697
C082360	fipronil	fipronil results in decreased expression of CRISPLD2 mRNA	23962444
D005557	Formaldehyde	Formaldehyde results in increased expression of CRISPLD2 mRNA	27664576
C039281	furan	furan results in decreased methylation of CRISPLD2 gene	27387713
C039281	furan	furan results in increased expression of CRISPLD2 mRNA	27387713
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 CRISPLD2 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 CRISPLD2 mRNA	29432896
D019833	Genistein	Genistein results in increased expression of CRISPLD2 mRNA	12075121
C412815	GW 4064	GW 4064 results in decreased expression of CRISPLD2 mRNA	26655953
C031927	hydroquinone	hydroquinone results in increased expression of CRISPLD2 mRNA	31256213
C492448	ICG 001	ICG 001 results in decreased expression of CRISPLD2 mRNA	26191083
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of CRISPLD2 mRNA	28628672
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 CRISPLD2 mRNA	29432896
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in increased expression of CRISPLD2 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of CRISPLD2 mRNA	25307878; 27432991;
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of CRISPLD2 mRNA	26644586
D019344	Lactic Acid	Lactic Acid results in decreased expression of CRISPLD2 mRNA	30851411
C008261	lead acetate	lead acetate affects the expression of CRISPLD2 mRNA	21829687
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of CRISPLD2 mRNA	24972896
D008294	Malathion	Malathion results in decreased expression of CRISPLD2 mRNA	19784758
D008713	Methimazole	Methimazole results in increased expression of CRISPLD2 mRNA	22504374
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of CRISPLD2 mRNA	28001369
D015735	Mifepristone	Mifepristone results in decreased expression of CRISPLD2 mRNA	17584828
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of CRISPLD2 mRNA	25554681; 25620056;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of CRISPLD2 mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of CRISPLD2 mRNA	23195993
D009578	Nitrobenzenes	Nitrobenzenes analog results in decreased expression of CRISPLD2 mRNA	19784758
C007350	nitrofen	nitrofen results in decreased expression of CRISPLD2 mRNA	21069352
C007350	nitrofen	nitrofen results in decreased expression of CRISPLD2 protein	21069352
C007350	nitrofen	Tretinoin inhibits the reaction [nitrofen results in decreased expression of CRISPLD2 mRNA]	21069352
C007350	nitrofen	Tretinoin inhibits the reaction [nitrofen results in decreased expression of CRISPLD2 protein]	21069352
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of CRISPLD2 mRNA	20971185
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of CRISPLD2 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of CRISPLD2 mRNA	25729387
D000073878	Palm Oil	Palm Oil results in increased expression of CRISPLD2 mRNA	18042831
D010269	Paraquat	Paraquat affects the expression of CRISPLD2 mRNA	16854511
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 CRISPLD2 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 CRISPLD2 mRNA	29432896
D052638	Particulate Matter	Particulate Matter results in increased expression of CRISPLD2 mRNA	28341207
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of CRISPLD2 mRNA	18593933
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of CRISPLD2 mRNA	15728792
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 CRISPLD2 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 CRISPLD2 mRNA	29432896
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of CRISPLD2 mRNA	22714537
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of CRISPLD2 mRNA	23608068
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in increased expression of CRISPLD2 mRNA	17404688
D011374	Progesterone	Progesterone results in increased expression of CRISPLD2 mRNA	17404688; 20864642; 21795739;
D011374	Progesterone	Progesterone results in increased expression of CRISPLD2 mRNA	20726854
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of CRISPLD2 mRNA	24780913
D011441	Propylthiouracil	Propylthiouracil results in increased expression of CRISPLD2 mRNA	22504374
C010313	pseudocumene	pseudocumene results in decreased expression of CRISPLD2 protein	17337753
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of CRISPLD2 mRNA	27029645
D020849	Raloxifene Hydrochloride	[Raloxifene Hydrochloride co-treated with ESR1 protein] results in increased expression of CRISPLD2 mRNA	19059307
D020849	Raloxifene Hydrochloride	[Raloxifene Hydrochloride co-treated with ESR2 protein] results in decreased expression of CRISPLD2 mRNA	19059307
D000077185	Resveratrol	[Dietary Fats co-treated with Resveratrol] results in increased expression of CRISPLD2 mRNA	21852083
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of CRISPLD2 mRNA	23806026
D012999	Soman	Soman results in increased expression of CRISPLD2 mRNA	19281266
D053260	Soot	Soot results in decreased expression of CRISPLD2 mRNA	26551751
D013629	Tamoxifen	[Tamoxifen co-treated with ESR1 protein] results in increased expression of CRISPLD2 mRNA	19059307
D013629	Tamoxifen	[Tamoxifen co-treated with ESR2 protein] results in decreased expression of CRISPLD2 mRNA	19059307
D013629	Tamoxifen	Tamoxifen affects the expression of CRISPLD2 mRNA	17555576
D020122	tert-Butylhydroperoxide	tert-Butylhydroperoxide results in increased expression of CRISPLD2 mRNA	15336504
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of CRISPLD2 mRNA	30398377
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of CRISPLD2 mRNA	22903824
D013853	Thioacetamide	Thioacetamide results in decreased expression of CRISPLD2 mRNA	19784758
C009495	titanium dioxide	titanium dioxide results in decreased expression of CRISPLD2 mRNA	23557971
C009495	titanium dioxide	titanium dioxide results in increased expression of CRISPLD2 mRNA	27760801
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of CRISPLD2 mRNA	20133372
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of CRISPLD2 mRNA	25729387
D019772	Topotecan	Topotecan results in increased expression of CRISPLD2 mRNA	25729387
D014212	Tretinoin	[bis(4-hydroxyphenyl)sulfone co-treated with Tretinoin] results in decreased expression of CRISPLD2 mRNA	30951980
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of CRISPLD2 mRNA	30951980
D014212	Tretinoin	Tretinoin inhibits the reaction [nitrofen results in decreased expression of CRISPLD2 mRNA]	21069352
D014212	Tretinoin	Tretinoin inhibits the reaction [nitrofen results in decreased expression of CRISPLD2 protein]	21069352
C012589	trichostatin A	trichostatin A affects the expression of CRISPLD2 mRNA	28542535
C012589	trichostatin A	trichostatin A results in increased expression of CRISPLD2 mRNA	24935251
D014260	Triclosan	Triclosan results in increased expression of CRISPLD2 mRNA	30510588
C015559	trimellitic anhydride	trimellitic anhydride results in decreased expression of CRISPLD2 mRNA	19042947
D014520	Urethane	Urethane results in increased expression of CRISPLD2 mRNA	28818685
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CRISPLD2 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of CRISPLD2 mRNA	24383497; 24935251; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased methylation of CRISPLD2 gene	29154799
D014638	Vanadates	Vanadates results in increased expression of CRISPLD2 mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of CRISPLD2 gene	25560391
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of CRISPLD2 mRNA	18593933
D015032	Zinc	Zinc deficiency results in decreased expression of CRISPLD2 mRNA	20857495

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal

Interpro

InterPro ID	InterPro Term
IPR018244	Allrgn_V5/Tpx1_CS
IPR014044	CAP_domain
IPR035940	CAP_sf
IPR001283	CRISP-related
IPR004043	LCCL
IPR036609	LCCL_sf

PROSITE

PROSITE ID	PROSITE Term
PS01010	CRISP_2
PS50820	LCCL

Pfam

Pfam ID	Pfam Term
PF00188	CAP
PF03815	LCCL

Gene: CRISPLD2

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

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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