CleftGeneDB-Search

Gene: CDON

Basic information

Tag	Content
Uniprot ID	Q4KMG0; O14631;
Entrez ID	50937
Genbank protein ID	AAC34901.2; AAH98583.1;
Genbank nucleotide ID	XM_011542862.2; XM_011542864.2; XM_011542863.2; XM_017017873.1; NM_001243597.1; XM_011542865.2; XM_011542866.2; NM_016952.4;
Ensembl protein ID	ENSP00000263577; ENSP00000376458;
Ensembl nucleotide ID	ENSG00000064309
Gene name	Cell adhesion molecule-related/down-regulated by oncogenes
Gene symbol	CDON
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Component of a cell-surface receptor complex that mediates cell-cell interactions between muscle precursor cells. Promotes differentiation of myogenic cells (By similarity).
Sequence	MHPDLGPLCT LLYVTLTILC SSVSSDLAPY FTSEPLSAVQ KLGGPVVLHC SAQPVTTRIS 60 WLHNGKTLDG NLEHVKIHQG TLTILSLNSS LLGYYQCLAN NSIGAIVSGP ATVSVAVLGD 120 FGSSTKHVIT AEEKSAGFIG CRVPESNPKA EVRYKIRGKW LEHSTENYLI LPSGNLQILN 180 VSLEDKGSYK CAAYNPVTHQ LKVEPIGRKL LVSRPSSDDV HILHPTHSQA LAVLSRSPVT 240 LECVVSGVPA PQVYWLKDGQ DIAPGSNWRR LYSHLATDSV DPADSGNYSC MAGNKSGDVK 300 YVTYMVNVLE HASISKGLQD QIVSLGATVH FTCDVHGNPA PNCTWFHNAQ PIHPSARHLT 360 AGNGLKISGV TVEDVGMYQC VADNGIGFMH STGRLEIEND GGFKPVIITA PVSAKVADGD 420 FVTLSCNASG LPVPVIRWYD SHGLITSHPS QVLRSKSRKS QLSRPEGLNL EPVYFVLSQA 480 GASSLHIQAV TQEHAGKYIC EAANEHGTTQ AEASLMVVPF ETNTKAETVT LPDAAQNDDR 540 SKRDGSETGL LSSFPVKVHP SAVESAPEKN ASGISVPDAP IILSPPQTHT PDTYNLVWRA 600 GKDGGLPINA YFVKYRKLDD GVGMLGSWHT VRVPGSENEL HLAELEPSSL YEVLMVARSA 660 AGEGQPAMLT FRTSKEKTAS SKNTQASSPP VGIPKYPVVS EAANNNFGVV LTDSSRHSGV 720 PEAPDRPTIS TASETSVYVT WIPRANGGSP ITAFKVEYKR MRTSNWLVAA EDIPPSKLSV 780 EVRSLEPGST YKFRVIAINH YGESFRSSAS RPYQVVGFPN RFSSRPITGP HIAYTEAVSD 840 TQIMLKWTYI PSSNNNTPIQ GFYIYYRPTD SDNDSDYKRD VVEGSKQWHM IGHLQPETSY 900 DIKMQCFNEG GESEFSNVMI CETKVKRVPG ASEYPVKDLS TPPNSLGSGG NVGPATSPAR 960 SSDMLYLIVG CVLGVMVLIL MVFIAMCLWK NRQQNTIQKY DPPGYLYQGS DMNGQMVDYT 1020 TLSGASQING NVHGGFLTNG GLSSGYSHLH HKVPNAVNGI VNGSLNGGLY SGHSNSLTRT 1080 HVDFEHPHHL VNGGGMYTAV PQIDPLECVN CRNCRNNNRC FTKTNSTFSS SPPPVVPVVA 1140 PYPQDGLEMK PLSHVKVPVC LTSAVPDCGQ LPEESVKDNV EPVPTQRTCC QDIVNDVSSD 1200 GSEDPAEFSR GQEGMINLRI PDHLQLAKSC VWEGDSCAHS ETEINIVSWN ALILPPVPEG 1260 CAEKTMWSPP GIPLDSPTEV LQQPRET 1287

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
3D1M
3N1F
3N1Q

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	CDON	536011	E1BHG3		Bos taurus	Prediction	More>>
1:1 ortholog	CDON	102188923	A0A452DT38		Capra hircus	Prediction	More>>
1:1 ortholog	CDON	50937	Q4KMG0		Homo sapiens	Prediction	More>>
1:1 ortholog	Cdon	57810	Q32MD9	CPO	Mus musculus	Publication	More>>
1:1 ortholog	CDON	451650	H2Q530		Pan troglodytes	Prediction	More>>
1:1 ortholog	CDON		I3LGV0		Sus scrofa	Prediction	More>>
1:1 ortholog	CDON		G1T3Q0		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Cdon	50938	G3V7K7		Rattus norvegicus	Prediction	More>>
1:1 ortholog	cdon	280652	Q1L8D0		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs770365102	p.His2Arg	missense variant	-	NC_000011.10:g.126023472T>C	ExAC,TOPMed,gnomAD
rs748719428	p.Pro3Leu	missense variant	-	NC_000011.10:g.126023469G>A	ExAC,TOPMed,gnomAD
rs771518021	p.Pro3Ser	missense variant	-	NC_000011.10:g.126023470G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp4Tyr	missense variant	-	NC_000011.10:g.126023467C>A	NCI-TCGA
rs201873943	p.Pro7Leu	missense variant	-	NC_000011.10:g.126023457G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu8Ser	missense variant	-	NC_000011.10:g.126023454A>G	NCI-TCGA
rs747426609	p.Cys9Gly	missense variant	-	NC_000011.10:g.126023452A>C	ExAC,TOPMed,gnomAD
rs1382278950	p.Cys9Trp	missense variant	-	NC_000011.10:g.126023450A>C	gnomAD
rs747426609	p.Cys9Arg	missense variant	-	NC_000011.10:g.126023452A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys9Tyr	missense variant	-	NC_000011.10:g.126023451C>T	NCI-TCGA
rs1382278950	p.Cys9Ter	stop gained	-	NC_000011.10:g.126023450A>T	gnomAD
rs1294933026	p.Thr10Ala	missense variant	-	NC_000011.10:g.126023449T>C	gnomAD
rs111293074	p.Thr10Ile	missense variant	-	NC_000011.10:g.126023448G>A	TOPMed
rs758651711	p.Tyr13Cys	missense variant	-	NC_000011.10:g.126023439T>C	ExAC,gnomAD
rs750412698	p.Val14Ile	missense variant	-	NC_000011.10:g.126023437C>T	ExAC,gnomAD
rs1261401798	p.Val14Gly	missense variant	-	NC_000011.10:g.126023436A>C	TOPMed
rs749799548	p.Thr15Ile	missense variant	-	NC_000011.10:g.126023433G>A	ExAC,TOPMed,gnomAD
rs767275943	p.Thr17Ile	missense variant	-	NC_000011.10:g.126023427G>A	ExAC,TOPMed,gnomAD
rs767275943	p.Thr17Lys	missense variant	-	NC_000011.10:g.126023427G>T	ExAC,TOPMed,gnomAD
rs759201946	p.Ile18Val	missense variant	-	NC_000011.10:g.126023425T>C	ExAC,gnomAD
rs1488968807	p.Cys20Arg	missense variant	-	NC_000011.10:g.126023419A>G	gnomAD
rs774233284	p.Ser21Ala	missense variant	-	NC_000011.10:g.126023416A>C	ExAC,gnomAD
COSM70132	p.Ser21Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126023415G>C	NCI-TCGA Cosmic
COSM4847472	p.Ser21Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126023415G>T	NCI-TCGA Cosmic
rs765875828	p.Ser22Cys	missense variant	-	NC_000011.10:g.126023412G>C	ExAC,TOPMed,gnomAD
rs765875828	p.Ser22Phe	missense variant	-	NC_000011.10:g.126023412G>A	ExAC,TOPMed,gnomAD
rs762677073	p.Val23Leu	missense variant	-	NC_000011.10:g.126023410C>A	ExAC,TOPMed,gnomAD
rs773050277	p.Asp26Glu	missense variant	-	NC_000011.10:g.126021519G>C	ExAC,gnomAD
COSM924639	p.Asp26Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021519G>T	NCI-TCGA Cosmic
rs377413373	p.Ala28Thr	missense variant	-	NC_000011.10:g.126021515C>T	ESP,TOPMed,gnomAD
COSM3445011	p.Ala28Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021514G>C	NCI-TCGA Cosmic
rs1258898315	p.Pro29Ser	missense variant	-	NC_000011.10:g.126021512G>A	gnomAD
rs879232982	p.Pro29Leu	missense variant	-	NC_000011.10:g.126021511G>A	gnomAD
RCV000354318	p.Thr32Ala	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126021503T>C	ClinVar
rs886047978	p.Thr32Ala	missense variant	-	NC_000011.10:g.126021503T>C	TOPMed,gnomAD
rs776289358	p.Glu34Ala	missense variant	-	NC_000011.10:g.126021496T>G	ExAC,TOPMed,gnomAD
rs776289358	p.Glu34Gly	missense variant	-	NC_000011.10:g.126021496T>C	ExAC,TOPMed,gnomAD
rs768986679	p.Pro35Leu	missense variant	-	NC_000011.10:g.126021493G>A	ExAC,TOPMed,gnomAD
COSM6131790	p.Pro35Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021494G>T	NCI-TCGA Cosmic
rs373425085	p.Val39Ile	missense variant	-	NC_000011.10:g.126021482C>T	ESP,TOPMed,gnomAD
rs1352633518	p.Gly43Ser	missense variant	-	NC_000011.10:g.126021470C>T	TOPMed
rs779057166	p.Pro45Leu	missense variant	-	NC_000011.10:g.126021463G>A	ExAC,TOPMed,gnomAD
rs779057166	p.Pro45Arg	missense variant	-	NC_000011.10:g.126021463G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro45His	missense variant	-	NC_000011.10:g.126021463G>T	NCI-TCGA
rs1421716494	p.Cys50Arg	missense variant	-	NC_000011.10:g.126021449A>G	gnomAD
rs777839995	p.Ser51Pro	missense variant	-	NC_000011.10:g.126021446A>G	ExAC,gnomAD
rs1412593151	p.Ser51Cys	missense variant	-	NC_000011.10:g.126021445G>C	TOPMed
rs1292254660	p.Ala52Thr	missense variant	-	NC_000011.10:g.126021443C>T	TOPMed
rs1370636072	p.Gln53Arg	missense variant	-	NC_000011.10:g.126021439T>C	gnomAD
rs751578730	p.Thr56Ala	missense variant	-	NC_000011.10:g.126021431T>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr56Ser	missense variant	-	NC_000011.10:g.126021430G>C	NCI-TCGA
rs779680622	p.Thr57Ser	missense variant	-	NC_000011.10:g.126021427G>C	ExAC,TOPMed,gnomAD
rs377281257	p.Arg58Leu	missense variant	-	NC_000011.10:g.126021424C>A	ESP,ExAC,TOPMed,gnomAD
rs758166096	p.Arg58Cys	missense variant	-	NC_000011.10:g.126021425G>A	ExAC,TOPMed,gnomAD
rs377281257	p.Arg58His	missense variant	-	NC_000011.10:g.126021424C>T	ESP,ExAC,TOPMed,gnomAD
rs764920509	p.Ser60Leu	missense variant	-	NC_000011.10:g.126021418G>A	ExAC,gnomAD
rs761571073	p.Trp61Arg	missense variant	-	NC_000011.10:g.126021416A>G	ExAC,gnomAD
rs1012612060	p.Gly65Arg	missense variant	-	NC_000011.10:g.126021404C>T	TOPMed,gnomAD
RCV000299199	p.Lys66Arg	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126021400T>C	ClinVar
NCI-TCGA novel	p.Lys66Asn	missense variant	-	NC_000011.10:g.126021399T>G	NCI-TCGA
rs7122277	p.Lys66Arg	missense variant	-	NC_000011.10:g.126021400T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs7122277	p.Lys66Arg	missense variant	-	NC_000011.10:g.126021400T>C	UniProt,dbSNP
VAR_056038	p.Lys66Arg	missense variant	-	NC_000011.10:g.126021400T>C	UniProt
rs373096471	p.Leu68Met	missense variant	-	NC_000011.10:g.126021395A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1400404626	p.Asp69Gly	missense variant	-	NC_000011.10:g.126021391T>C	gnomAD
rs759852629	p.Asn71His	missense variant	-	NC_000011.10:g.126021386T>G	ExAC,gnomAD
COSM466541	p.Glu73Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021379T>A	NCI-TCGA Cosmic
rs771079195	p.His74Arg	missense variant	-	NC_000011.10:g.126021376T>C	ExAC,gnomAD
rs1461359021	p.Val75Ala	missense variant	-	NC_000011.10:g.126021373A>G	TOPMed,gnomAD
rs3740912	p.Val75Ile	missense variant	-	NC_000011.10:g.126021374C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3740912	p.Val75Leu	missense variant	-	NC_000011.10:g.126021374C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000403980	p.Val75Ile	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126021374C>T	ClinVar
RCV000081795	p.Val75Ile	missense variant	-	NC_000011.10:g.126021374C>T	ClinVar
COSM4019089	p.Lys76Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021370T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.His78Asn	missense variant	-	NC_000011.10:g.126021365G>T	NCI-TCGA
rs537243111	p.Gly80Val	missense variant	-	NC_000011.10:g.126021358C>A	1000Genomes
rs1475949375	p.Thr83Arg	missense variant	-	NC_000011.10:g.126021349G>C	gnomAD
rs1190562999	p.Ile84Val	missense variant	-	NC_000011.10:g.126021347T>C	TOPMed,gnomAD
rs780005078	p.Ser86Cys	missense variant	-	NC_000011.10:g.126021340G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu87GlnPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.126021341_126021342AA>-	NCI-TCGA
rs750189088	p.Asn88Asp	missense variant	-	NC_000011.10:g.126021335T>C	ExAC,TOPMed,gnomAD
COSM5371973	p.Ser89Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021331G>A	NCI-TCGA Cosmic
rs778909843	p.Ser90Phe	missense variant	-	NC_000011.10:g.126021328G>A	ExAC,gnomAD
rs139453844	p.Tyr95Cys	missense variant	-	NC_000011.10:g.126021313T>C	ExAC,gnomAD
rs139453844	p.Tyr95Phe	missense variant	-	NC_000011.10:g.126021313T>A	ExAC,gnomAD
rs1428881983	p.Gln96Arg	missense variant	-	NC_000011.10:g.126021310T>C	gnomAD
rs1204039510	p.Leu98Phe	missense variant	-	NC_000011.10:g.126021305G>A	gnomAD
rs1326603662	p.Asn100Asp	missense variant	-	NC_000011.10:g.126021299T>C	gnomAD
rs763492645	p.Asn100Ser	missense variant	-	NC_000011.10:g.126021298T>C	ExAC,TOPMed,gnomAD
rs1173475844	p.Asn101Ser	missense variant	-	NC_000011.10:g.126021295T>C	TOPMed,gnomAD
rs752178829	p.Ser102Asn	missense variant	-	NC_000011.10:g.126021292C>T	ExAC,TOPMed,gnomAD
rs1231060824	p.Ile103Val	missense variant	-	NC_000011.10:g.126021290T>C	gnomAD
rs375179830	p.Gly104Ser	missense variant	-	NC_000011.10:g.126021287C>T	ESP,ExAC,TOPMed,gnomAD
rs774680347	p.Ile106Val	missense variant	-	NC_000011.10:g.126021281T>C	ExAC,gnomAD
rs1192415671	p.Ser108Asn	missense variant	-	NC_000011.10:g.126021274C>T	TOPMed,gnomAD
rs1192415671	p.Ser108Thr	missense variant	-	NC_000011.10:g.126021274C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly109Asp	missense variant	-	NC_000011.10:g.126021271C>T	NCI-TCGA
rs1239869217	p.Ala111Thr	missense variant	-	NC_000011.10:g.126021266C>T	gnomAD
rs201984605	p.Ala111Val	missense variant	-	NC_000011.10:g.126021265G>A	TOPMed,gnomAD
COSM4019088	p.Ser114Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126021256G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu118Ile	missense variant	-	NC_000011.10:g.126019763G>T	NCI-TCGA
rs1278297117	p.Gly119Ser	missense variant	-	NC_000011.10:g.126019760C>T	gnomAD
rs745781142	p.Asp120Tyr	missense variant	-	NC_000011.10:g.126019757C>A	ExAC,gnomAD
COSM3445010	p.Phe121Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126019753A>C	NCI-TCGA Cosmic
rs559988708	p.Gly122Val	missense variant	-	NC_000011.10:g.126019750C>A	1000Genomes,ExAC,gnomAD
COSM1297792	p.Ser123Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126019747G>A	NCI-TCGA Cosmic
rs572238103	p.Ser124Phe	missense variant	-	NC_000011.10:g.126019744G>A	ExAC,TOPMed,gnomAD
rs1432443996	p.Thr125Ile	missense variant	-	NC_000011.10:g.126019741G>A	gnomAD
rs749042631	p.Lys126Arg	missense variant	-	NC_000011.10:g.126019738T>C	ExAC,gnomAD
rs1477006684	p.His127Arg	missense variant	-	NC_000011.10:g.126019735T>C	gnomAD
rs755773724	p.Ile129Asn	missense variant	-	NC_000011.10:g.126019729A>T	ExAC,gnomAD
rs755773724	p.Ile129Thr	missense variant	-	NC_000011.10:g.126019729A>G	ExAC,gnomAD
COSM3791308	p.Glu132Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126019721C>G	NCI-TCGA Cosmic
rs727503849	p.Lys134Thr	missense variant	-	NC_000011.10:g.126019714T>G	-
NCI-TCGA novel	p.Lys134Glu	missense variant	-	NC_000011.10:g.126019715T>C	NCI-TCGA
RCV000152961	p.Lys134Thr	missense variant	-	NC_000011.10:g.126019714T>G	ClinVar
rs1012904303	p.Ser135Arg	missense variant	-	NC_000011.10:g.126019712T>G	TOPMed
NCI-TCGA novel	p.Ser135ValPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.126019712T>-	NCI-TCGA
rs754529981	p.Gly137Cys	missense variant	-	NC_000011.10:g.126019706C>A	ExAC,gnomAD
rs754529981	p.Gly137Ser	missense variant	-	NC_000011.10:g.126019706C>T	ExAC,gnomAD
rs751089434	p.Gly137Ala	missense variant	-	NC_000011.10:g.126019705C>G	ExAC,TOPMed,gnomAD
rs1256506796	p.Cys141Trp	missense variant	-	NC_000011.10:g.126019692G>C	gnomAD
rs780474749	p.Arg142Trp	missense variant	-	NC_000011.10:g.126019691T>A	ExAC,TOPMed,gnomAD
rs780474749	p.Arg142Gly	missense variant	-	NC_000011.10:g.126019691T>C	ExAC,TOPMed,gnomAD
rs1192099304	p.Val143Ile	missense variant	-	NC_000011.10:g.126019688C>T	TOPMed,gnomAD
rs758844124	p.Val143Gly	missense variant	-	NC_000011.10:g.126019687A>C	ExAC,gnomAD
rs750786915	p.Pro144Leu	missense variant	-	NC_000011.10:g.126019684G>A	ExAC,TOPMed,gnomAD
rs1262743314	p.Pro144Ser	missense variant	-	NC_000011.10:g.126019685G>A	gnomAD
rs1247152221	p.Pro148Ser	missense variant	-	NC_000011.10:g.126019673G>A	-
rs1235672810	p.Val152Leu	missense variant	-	NC_000011.10:g.126019661C>A	gnomAD
rs754060200	p.Arg153His	missense variant	-	NC_000011.10:g.126019657C>T	ExAC,TOPMed,gnomAD
rs1356704055	p.Arg153Cys	missense variant	-	NC_000011.10:g.126019658G>A	gnomAD
COSM924636	p.Lys155Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126019652T>C	NCI-TCGA Cosmic
rs760795607	p.Arg157Trp	missense variant	-	NC_000011.10:g.126019646G>A	ExAC,TOPMed,gnomAD
rs775714222	p.Arg157Gln	missense variant	-	NC_000011.10:g.126019645C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys159Arg	missense variant	-	NC_000011.10:g.126019639T>C	NCI-TCGA
rs779732689	p.Leu161Pro	missense variant	-	NC_000011.10:g.126019633A>G	gnomAD
rs1166523169	p.Glu162Gly	missense variant	-	NC_000011.10:g.126019630T>C	gnomAD
rs3740909	p.Glu162Lys	missense variant	-	NC_000011.10:g.126019631C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000342822	p.Glu162Lys	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126019631C>T	ClinVar
rs3740909	p.Glu162Lys	missense variant	-	NC_000011.10:g.126019631C>T	UniProt,dbSNP
VAR_056039	p.Glu162Lys	missense variant	-	NC_000011.10:g.126019631C>T	UniProt
rs762852141	p.His163Tyr	missense variant	-	NC_000011.10:g.126019628G>A	ExAC,gnomAD
rs374740093	p.His163Arg	missense variant	-	NC_000011.10:g.126019627T>C	ESP,ExAC,TOPMed,gnomAD
rs1185475705	p.Thr165Ala	missense variant	-	NC_000011.10:g.126019622T>C	gnomAD
NCI-TCGA novel	p.Glu166Asp	missense variant	-	NC_000011.10:g.126018472C>A	NCI-TCGA
rs761472552	p.Asn175Ile	missense variant	-	NC_000011.10:g.126018446T>A	ExAC,TOPMed,gnomAD
rs761472552	p.Asn175Thr	missense variant	-	NC_000011.10:g.126018446T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn175Tyr	missense variant	-	NC_000011.10:g.126018447T>A	NCI-TCGA
rs1305176432	p.Val181Gly	missense variant	-	NC_000011.10:g.126018428A>C	gnomAD
rs1369590570	p.Asp185Asn	missense variant	-	NC_000011.10:g.126018417C>T	gnomAD
COSM924635	p.Lys186Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126018413T>A	NCI-TCGA Cosmic
rs1393032049	p.Tyr189Ter	stop gained	-	NC_000011.10:g.126018403G>T	gnomAD
rs768285944	p.Lys190Glu	missense variant	-	NC_000011.10:g.126018402T>C	ExAC,gnomAD
rs368488832	p.Cys191Tyr	missense variant	-	NC_000011.10:g.126018398C>T	ESP,ExAC,gnomAD
rs1175745065	p.Asn195His	missense variant	-	NC_000011.10:g.126018387T>G	gnomAD
rs771535458	p.Pro196Leu	missense variant	-	NC_000011.10:g.126018383G>A	ExAC,gnomAD
rs1454922149	p.Pro196Ser	missense variant	-	NC_000011.10:g.126018384G>A	gnomAD
rs745409017	p.Val197Ile	missense variant	-	NC_000011.10:g.126018381C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr198Ile	missense variant	-	NC_000011.10:g.126018377G>A	NCI-TCGA
rs757784108	p.His199Arg	missense variant	-	NC_000011.10:g.126018374T>C	ExAC,TOPMed,gnomAD
rs1421351336	p.His199Tyr	missense variant	-	NC_000011.10:g.126018375G>A	gnomAD
NCI-TCGA novel	p.His199Gln	missense variant	-	NC_000011.10:g.126018373A>C	NCI-TCGA
rs757784108	p.His199Leu	missense variant	-	NC_000011.10:g.126018374T>A	ExAC,TOPMed,gnomAD
rs749603423	p.Gln200Glu	missense variant	-	NC_000011.10:g.126018372G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln200Lys	missense variant	-	NC_000011.10:g.126018372G>T	NCI-TCGA
rs1455091916	p.Lys202Gln	missense variant	-	NC_000011.10:g.126018366T>G	TOPMed
rs1291462586	p.Pro205Leu	missense variant	-	NC_000011.10:g.126018356G>A	TOPMed
rs778337122	p.Pro205Ala	missense variant	-	NC_000011.10:g.126018357G>C	ExAC,gnomAD
rs1300596095	p.Gly207Arg	missense variant	-	NC_000011.10:g.126018351C>G	gnomAD
rs756395737	p.Gly207Asp	missense variant	-	NC_000011.10:g.126018350C>T	ExAC,gnomAD
rs767611891	p.Arg208Ter	stop gained	-	NC_000011.10:g.126018348G>A	ExAC,gnomAD
rs754962623	p.Arg208Gln	missense variant	-	NC_000011.10:g.126018347C>T	ExAC,TOPMed,gnomAD
rs767611891	p.Arg208Gly	missense variant	-	NC_000011.10:g.126018348G>C	ExAC,gnomAD
rs754962623	p.Arg208Leu	missense variant	-	NC_000011.10:g.126018347C>A	ExAC,TOPMed,gnomAD
rs751689300	p.Lys209Glu	missense variant	-	NC_000011.10:g.126018345T>C	ExAC,gnomAD
COSM1561535	p.Lys209Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126018343C>A	NCI-TCGA Cosmic
rs765028023	p.Lys209Asn	missense variant	-	NC_000011.10:g.126018343C>G	ExAC,TOPMed,gnomAD
rs1304476416	p.Leu211Phe	missense variant	-	NC_000011.10:g.126018339G>A	TOPMed
COSM924634	p.Val212Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126018335A>G	NCI-TCGA Cosmic
rs1313305429	p.Val212Leu	missense variant	-	NC_000011.10:g.126018336C>A	gnomAD
rs761798261	p.Arg214Cys	missense variant	-	NC_000011.10:g.126018330G>A	ExAC,TOPMed,gnomAD
rs377604853	p.Pro215Arg	missense variant	-	NC_000011.10:g.126017372G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760426695	p.Ser216Cys	missense variant	-	NC_000011.10:g.126017369G>C	ExAC,gnomAD
rs775361946	p.Asp219Glu	missense variant	-	NC_000011.10:g.126017359A>C	ExAC,TOPMed,gnomAD
rs767017573	p.His221Asn	missense variant	-	NC_000011.10:g.126017355G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ile222Asn	missense variant	-	NC_000011.10:g.126017351A>T	NCI-TCGA
NCI-TCGA novel	p.Ala230Thr	missense variant	-	NC_000011.10:g.126017328C>T	NCI-TCGA
rs1273740515	p.Ala232Val	missense variant	-	NC_000011.10:g.126017321G>A	gnomAD
rs770600525	p.Val233Leu	missense variant	-	NC_000011.10:g.126017319C>G	ExAC,gnomAD
rs749790277	p.Ser235Pro	missense variant	-	NC_000011.10:g.126017313A>G	ExAC,gnomAD
rs773805014	p.Arg236Cys	missense variant	-	NC_000011.10:g.126017310G>A	ExAC,TOPMed,gnomAD
rs148250074	p.Arg236His	missense variant	-	NC_000011.10:g.126017309C>T	ESP,ExAC,TOPMed,gnomAD
rs143116838	p.Ser237Ile	missense variant	-	NC_000011.10:g.126017306C>A	ESP
rs748455462	p.Val239Ile	missense variant	-	NC_000011.10:g.126017301C>T	ExAC,TOPMed,gnomAD
rs1461439026	p.Val245Leu	missense variant	-	NC_000011.10:g.126017283C>G	gnomAD
rs1412033288	p.Ser246Arg	missense variant	-	NC_000011.10:g.126017280T>G	gnomAD
rs747295873	p.Pro249Ser	missense variant	-	NC_000011.10:g.126017271G>A	ExAC,gnomAD
rs138087778	p.Pro249Leu	missense variant	-	NC_000011.10:g.126017270G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala250HisPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.126017269_126017270insCTGTAACCTTGGAGTGTGT	NCI-TCGA
rs1186043179	p.Ala250Gly	missense variant	-	NC_000011.10:g.126017267G>C	gnomAD
rs1226201223	p.TyrTrpLeuLysAspGlyGlnAspIleAla254TyrTrpLeuLysAspGlyGlnAspIleGlyTerArgThrGlyArgThrLeuUnk	stop gained	-	NC_000011.10:g.126017255_126017256insGTCCTGCCCGTCCTTTAGCCAAT	gnomAD
rs1253145949	p.Tyr254Asp	missense variant	-	NC_000011.10:g.126017256A>C	gnomAD
rs1449837925	p.Asp258Gly	missense variant	-	NC_000011.10:g.126017243T>C	gnomAD
rs777623487	p.Asp258Glu	missense variant	-	NC_000011.10:g.126017242G>T	ExAC,TOPMed,gnomAD
rs752417979	p.Gly259Glu	missense variant	-	NC_000011.10:g.126017240C>T	ExAC,gnomAD
rs145549613	p.Gly259Arg	missense variant	-	NC_000011.10:g.126017241C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln260ArgPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.126017239C>-	NCI-TCGA
NCI-TCGA novel	p.Asp261Gly	missense variant	-	NC_000011.10:g.126017234T>C	NCI-TCGA
rs767409841	p.Ile262Val	missense variant	-	NC_000011.10:g.126017232T>C	ExAC,gnomAD
rs140542787	p.Pro264Leu	missense variant	-	NC_000011.10:g.126017225G>A	ESP,ExAC,TOPMed,gnomAD
rs377050469	p.Pro264Ala	missense variant	-	NC_000011.10:g.126017226G>C	ESP
rs140542787	p.Pro264Gln	missense variant	-	NC_000011.10:g.126017225G>T	ESP,ExAC,TOPMed,gnomAD
RCV000481702	p.Pro264Gln	missense variant	-	NC_000011.10:g.126017225G>T	ClinVar
COSM4019084	p.Pro264Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126017226G>T	NCI-TCGA Cosmic
COSM924633	p.Gly265Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.126017223C>A	NCI-TCGA Cosmic
rs766151030	p.Asn267Ile	missense variant	-	NC_000011.10:g.126017216T>A	ExAC,gnomAD
rs766151030	p.Asn267Ser	missense variant	-	NC_000011.10:g.126017216T>C	ExAC,gnomAD
rs190436988	p.Arg270Met	missense variant	-	NC_000011.10:g.126017207C>A	1000Genomes
rs1314339607	p.Arg270Gly	missense variant	-	NC_000011.10:g.126017208T>C	TOPMed
rs772851258	p.Leu271Phe	missense variant	-	NC_000011.10:g.126017203C>G	ExAC,TOPMed,gnomAD
rs1410881017	p.Ser273Phe	missense variant	-	NC_000011.10:g.126017198G>A	TOPMed,gnomAD
rs770365311	p.His274Arg	missense variant	-	NC_000011.10:g.126017195T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu275Phe	missense variant	-	NC_000011.10:g.126017193G>A	NCI-TCGA
COSM1507332	p.Asp278Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126017184C>T	NCI-TCGA Cosmic
rs1455362642	p.Ser279Asn	missense variant	-	NC_000011.10:g.126017180C>T	gnomAD
rs776831132	p.Ser279Arg	missense variant	-	NC_000011.10:g.126017179G>T	ExAC,TOPMed,gnomAD
rs532734340	p.Val280Ile	missense variant	-	NC_000011.10:g.126017178C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1245354393	p.Val280Ala	missense variant	-	NC_000011.10:g.126017177A>G	TOPMed,gnomAD
rs1476973615	p.Pro282Thr	missense variant	-	NC_000011.10:g.126017172G>T	gnomAD
rs201323548	p.Pro282Leu	missense variant	-	NC_000011.10:g.126017171G>A	ExAC,TOPMed,gnomAD
rs772289417	p.Ala283Val	missense variant	-	NC_000011.10:g.126017168G>A	ExAC,TOPMed,gnomAD
rs1364129181	p.Ser285Thr	missense variant	-	NC_000011.10:g.126017163A>T	TOPMed
rs752716771	p.Gly286Arg	missense variant	-	NC_000011.10:g.126017160C>T	ExAC,gnomAD
rs374762451	p.Tyr288Cys	missense variant	-	NC_000011.10:g.126017153T>C	ESP,ExAC,TOPMed,gnomAD
COSM3445007	p.Ser289Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126017150G>A	NCI-TCGA Cosmic
rs1445263541	p.Ser289Thr	missense variant	-	NC_000011.10:g.126017151A>T	gnomAD
rs754752328	p.Ala292Thr	missense variant	-	NC_000011.10:g.126017142C>T	ExAC,TOPMed,gnomAD
rs751341846	p.Ala292Val	missense variant	-	NC_000011.10:g.126017141G>A	ExAC,TOPMed
rs762706906	p.Gly293Glu	missense variant	-	NC_000011.10:g.126017138C>T	ExAC,gnomAD
RCV000649536	p.Asn294Ser	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126017135T>C	ClinVar
rs749949944	p.Asn294Ser	missense variant	-	NC_000011.10:g.126017135T>C	ExAC,TOPMed,gnomAD
rs1306816183	p.Asp298Val	missense variant	-	NC_000011.10:g.126017123T>A	TOPMed
rs762204286	p.Asp298Asn	missense variant	-	NC_000011.10:g.126017124C>T	ExAC,gnomAD
rs769078575	p.Val299Ile	missense variant	-	NC_000011.10:g.126017121C>T	ExAC,gnomAD
rs980315790	p.Val299Ala	missense variant	-	NC_000011.10:g.126017120A>G	TOPMed,gnomAD
rs775849561	p.Lys300Ile	missense variant	-	NC_000011.10:g.126017117T>A	ExAC,gnomAD
rs772272581	p.Met305Val	missense variant	-	NC_000011.10:g.126017103T>C	ExAC,TOPMed,gnomAD
rs746152934	p.Met305Ile	missense variant	-	NC_000011.10:g.126017101C>T	ExAC,gnomAD
rs377698156	p.Asn307Ser	missense variant	-	NC_000011.10:g.126017096T>C	ESP,ExAC,TOPMed,gnomAD
rs1486752391	p.Leu309Phe	missense variant	-	NC_000011.10:g.126017091G>A	gnomAD
NCI-TCGA novel	p.Glu310Lys	missense variant	-	NC_000011.10:g.126017088C>T	NCI-TCGA
rs369439584	p.His311Tyr	missense variant	-	NC_000011.10:g.126015508G>A	ESP,ExAC,TOPMed,gnomAD
rs369439584	p.His311Asn	missense variant	-	NC_000011.10:g.126015508G>T	ESP,ExAC,TOPMed,gnomAD
rs150223422	p.Ala312Gly	missense variant	-	NC_000011.10:g.126015504G>C	ESP,ExAC,TOPMed
NCI-TCGA novel	p.Ser313Phe	missense variant	-	NC_000011.10:g.126015501G>A	NCI-TCGA
rs746984142	p.Lys316Glu	missense variant	-	NC_000011.10:g.126015493T>C	ExAC,TOPMed,gnomAD
rs1363663627	p.Lys316Thr	missense variant	-	NC_000011.10:g.126015492T>G	gnomAD
rs758218377	p.Gln319Arg	missense variant	-	NC_000011.10:g.126015483T>C	ExAC,gnomAD
rs994484254	p.Asp320Val	missense variant	-	NC_000011.10:g.126015480T>A	TOPMed
rs745689234	p.Ile322Val	missense variant	-	NC_000011.10:g.126015475T>C	ExAC,gnomAD
rs1406987164	p.Val323Ala	missense variant	-	NC_000011.10:g.126015471A>G	TOPMed
NCI-TCGA novel	p.Ser324Tyr	missense variant	-	NC_000011.10:g.126015468G>T	NCI-TCGA
rs778563956	p.Leu325Val	missense variant	-	NC_000011.10:g.126015466G>C	ExAC,TOPMed,gnomAD
rs1205001369	p.Gly326Cys	missense variant	-	NC_000011.10:g.126015463C>A	TOPMed,gnomAD
rs1205001369	p.Gly326Ser	missense variant	-	NC_000011.10:g.126015463C>T	TOPMed,gnomAD
rs1367640562	p.Ala327Asp	missense variant	-	NC_000011.10:g.126015459G>T	gnomAD
rs897565171	p.Thr328Ile	missense variant	-	NC_000011.10:g.126015456G>A	TOPMed
RCV000479834	p.Thr328Ile	missense variant	-	NC_000011.10:g.126015456G>A	ClinVar
rs756878197	p.Val329Leu	missense variant	-	NC_000011.10:g.126015454C>A	ExAC,TOPMed,gnomAD
rs1421958761	p.His330Arg	missense variant	-	NC_000011.10:g.126015450T>C	gnomAD
rs200256793	p.Thr332Ile	missense variant	-	NC_000011.10:g.126015444G>A	1000Genomes
rs1287450549	p.Asp334Gly	missense variant	-	NC_000011.10:g.126015438T>C	TOPMed,gnomAD
rs571859031	p.Asp334Asn	missense variant	-	NC_000011.10:g.126015439C>T	1000Genomes,ExAC,gnomAD
RCV000407731	p.Asp334His	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126015439C>G	ClinVar
rs571859031	p.Asp334His	missense variant	-	NC_000011.10:g.126015439C>G	1000Genomes,ExAC,gnomAD
rs768030484	p.Val335Ile	missense variant	-	NC_000011.10:g.126015436C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val335Ala	missense variant	-	NC_000011.10:g.126015435A>G	NCI-TCGA
rs768030484	p.Val335Leu	missense variant	-	NC_000011.10:g.126015436C>G	ExAC,TOPMed,gnomAD
rs1308825452	p.His336Tyr	missense variant	-	NC_000011.10:g.126015433G>A	gnomAD
rs774702488	p.His336Arg	missense variant	-	NC_000011.10:g.126015432T>C	ExAC,gnomAD
COSM4942112	p.Pro339Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126015424G>A	NCI-TCGA Cosmic
rs140975280	p.Asn342Ser	missense variant	-	NC_000011.10:g.126015414T>C	ESP,ExAC,TOPMed,gnomAD
rs140975280	p.Asn342Ile	missense variant	-	NC_000011.10:g.126015414T>A	ESP,ExAC,TOPMed,gnomAD
rs1237984326	p.Cys343Ser	missense variant	-	NC_000011.10:g.126015411C>G	gnomAD
rs935981654	p.Thr344Ser	missense variant	-	NC_000011.10:g.126015408G>C	gnomAD
rs935981654	p.Thr344Ile	missense variant	-	NC_000011.10:g.126015408G>A	gnomAD
rs1373287119	p.Thr344Ser	missense variant	-	NC_000011.10:g.126015409T>A	gnomAD
rs201963480	p.His347Gln	missense variant	-	NC_000011.10:g.126015398G>C	ESP,ExAC,TOPMed,gnomAD
rs769815320	p.Asn348Asp	missense variant	-	NC_000011.10:g.126015397T>C	ExAC,gnomAD
rs1348564968	p.Asn348Ser	missense variant	-	NC_000011.10:g.126015396T>C	TOPMed,gnomAD
rs1463338446	p.Ala349Thr	missense variant	-	NC_000011.10:g.126015394C>T	gnomAD
rs35665264	p.Pro351Thr	missense variant	-	NC_000011.10:g.126015388G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35665264	p.Pro351Ala	missense variant	-	NC_000011.10:g.126015388G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1186988592	p.Pro351Leu	missense variant	-	NC_000011.10:g.126015387G>A	TOPMed
RCV000346366	p.Pro351Ala	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126015388G>C	ClinVar
rs775528534	p.Ile352Val	missense variant	-	NC_000011.10:g.126015385T>C	ExAC,gnomAD
rs772141487	p.His353Tyr	missense variant	-	NC_000011.10:g.126015382G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro354Ser	missense variant	-	NC_000011.10:g.126015379G>A	NCI-TCGA
rs1434219698	p.Ser355Tyr	missense variant	-	NC_000011.10:g.126015375G>T	gnomAD
rs748937290	p.Arg357Gln	missense variant	-	NC_000011.10:g.126015369C>T	ExAC,TOPMed,gnomAD
rs200614048	p.Arg357Ter	stop gained	-	NC_000011.10:g.126015370G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs777312776	p.His358Leu	missense variant	-	NC_000011.10:g.126015366T>A	ExAC,gnomAD
rs567489513	p.His358Tyr	missense variant	-	NC_000011.10:g.126015367G>A	1000Genomes,TOPMed,gnomAD
rs777312776	p.His358Arg	missense variant	-	NC_000011.10:g.126015366T>C	ExAC,gnomAD
rs1339689361	p.Gly362Arg	missense variant	-	NC_000011.10:g.126015355C>T	gnomAD
rs1330383341	p.Gly364Ala	missense variant	-	NC_000011.10:g.126015348C>G	gnomAD
rs111947043	p.Gly364Arg	missense variant	-	NC_000011.10:g.126015349C>T	ESP,TOPMed,gnomAD
rs373285253	p.Ser368Gly	missense variant	-	NC_000011.10:g.126015337T>C	ESP,ExAC,TOPMed,gnomAD
rs781612618	p.Gly369Glu	missense variant	-	NC_000011.10:g.126015333C>T	ExAC,gnomAD
rs1373784893	p.Val370Ile	missense variant	-	NC_000011.10:g.126015331C>T	gnomAD
rs751905547	p.Val375Phe	missense variant	-	NC_000011.10:g.126015316C>A	ExAC,TOPMed,gnomAD
rs1368979819	p.Val375Ala	missense variant	-	NC_000011.10:g.126015315A>G	gnomAD
rs766718420	p.Tyr378His	missense variant	-	NC_000011.10:g.126015307A>G	ExAC,gnomAD
rs765870698	p.Ala382Ser	missense variant	-	NC_000011.10:g.126015295C>A	TOPMed
rs765870698	p.Ala382Thr	missense variant	-	NC_000011.10:g.126015295C>T	TOPMed
rs763217129	p.Asp383Asn	missense variant	-	NC_000011.10:g.126015292C>T	ExAC,gnomAD
rs1481847684	p.Ile386Met	missense variant	-	NC_000011.10:g.126015281A>C	gnomAD
rs761918589	p.Ile386Thr	missense variant	-	NC_000011.10:g.126015282A>G	ExAC,TOPMed,gnomAD
rs765529282	p.Ile386Val	missense variant	-	NC_000011.10:g.126015283T>C	ExAC,gnomAD
rs144902474	p.Met389Ile	missense variant	-	NC_000011.10:g.126015272C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1026069027	p.His390Tyr	missense variant	-	NC_000011.10:g.126015271G>A	gnomAD
rs993611705	p.His390Leu	missense variant	-	NC_000011.10:g.126015270T>A	TOPMed,gnomAD
NCI-TCGA novel	p.His390Arg	missense variant	-	NC_000011.10:g.126015270T>C	NCI-TCGA
rs993611705	p.His390Pro	missense variant	-	NC_000011.10:g.126015270T>G	TOPMed,gnomAD
rs145407952	p.Glu396Asp	missense variant	-	NC_000011.10:g.126015251T>G	1000Genomes
rs375026022	p.Asp400His	missense variant	-	NC_000011.10:g.126015241C>G	ESP,TOPMed
rs148411384	p.Asp400Glu	missense variant	-	NC_000011.10:g.126010693G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp400Gly	missense variant	-	NC_000011.10:g.126010694T>C	NCI-TCGA
rs1203351055	p.Gly401Ser	missense variant	-	NC_000011.10:g.126010692C>T	TOPMed,gnomAD
rs1314016998	p.Gly401Asp	missense variant	-	NC_000011.10:g.126010691C>T	gnomAD
rs1486766592	p.Gly402Arg	missense variant	-	NC_000011.10:g.126010689C>T	TOPMed
rs771664940	p.Gly402Glu	missense variant	-	NC_000011.10:g.126010688C>T	ExAC,TOPMed,gnomAD
rs774955525	p.Phe403Val	missense variant	-	NC_000011.10:g.126010686A>C	ExAC,gnomAD
rs774955525	p.Phe403Ile	missense variant	-	NC_000011.10:g.126010686A>T	ExAC,gnomAD
rs749603550	p.Val406Ala	missense variant	-	NC_000011.10:g.126010676A>G	ExAC,gnomAD
rs771565069	p.Val406Leu	missense variant	-	NC_000011.10:g.126010677C>G	ExAC,TOPMed,gnomAD
rs771565069	p.Val406Ile	missense variant	-	NC_000011.10:g.126010677C>T	ExAC,TOPMed,gnomAD
rs778337270	p.Ile407Val	missense variant	-	NC_000011.10:g.126010674T>C	ExAC,gnomAD
rs769903081	p.Ile407Lys	missense variant	-	NC_000011.10:g.126010673A>T	ExAC,gnomAD
rs778337270	p.Ile407Leu	missense variant	-	NC_000011.10:g.126010674T>G	ExAC,gnomAD
COSM3986020	p.Ile408Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126010670A>T	NCI-TCGA Cosmic
rs748441570	p.Thr409Arg	missense variant	-	NC_000011.10:g.126010667G>C	ExAC,TOPMed,gnomAD
rs748441570	p.Thr409Met	missense variant	-	NC_000011.10:g.126010667G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala410Thr	missense variant	-	NC_000011.10:g.126010665C>T	NCI-TCGA
rs372823373	p.Pro411Ser	missense variant	-	NC_000011.10:g.126010662G>A	ESP,ExAC,TOPMed,gnomAD
rs1410111649	p.Val412Leu	missense variant	-	NC_000011.10:g.126010659C>G	gnomAD
rs1410111649	p.Val412Ile	missense variant	-	NC_000011.10:g.126010659C>T	gnomAD
rs1002410638	p.Lys415Glu	missense variant	-	NC_000011.10:g.126010650T>C	TOPMed
rs199880115	p.Val416Leu	missense variant	-	NC_000011.10:g.126010647C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs757244949	p.Ala417Val	missense variant	-	NC_000011.10:g.126010643G>A	ExAC,TOPMed,gnomAD
rs753627841	p.Asp418Val	missense variant	-	NC_000011.10:g.126010640T>A	ExAC,gnomAD
RCV000291413	p.Asp418Val	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126010640T>A	ClinVar
rs760225821	p.Gly419Arg	missense variant	-	NC_000011.10:g.126010638C>T	ExAC,TOPMed,gnomAD
rs752350757	p.Asp420Glu	missense variant	-	NC_000011.10:g.126010633G>C	ExAC,gnomAD
rs1209540895	p.Phe421Val	missense variant	-	NC_000011.10:g.126010632A>C	gnomAD
rs774008444	p.Asn427Ser	missense variant	-	NC_000011.10:g.126010613T>C	ExAC,TOPMed,gnomAD
rs771548863	p.Ala428Thr	missense variant	-	NC_000011.10:g.126010611C>T	ExAC,gnomAD
rs571245166	p.Ala428Val	missense variant	-	NC_000011.10:g.126010610G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser429Asn	missense variant	-	NC_000011.10:g.126010607C>T	NCI-TCGA
rs1284972415	p.Pro432Leu	missense variant	-	NC_000011.10:g.126010598G>A	TOPMed
rs1301709655	p.Pro432Ser	missense variant	-	NC_000011.10:g.126010599G>A	gnomAD
rs1204931414	p.Val433Ala	missense variant	-	NC_000011.10:g.126010595A>G	TOPMed,gnomAD
rs770242229	p.Pro434Leu	missense variant	-	NC_000011.10:g.126010592G>A	ExAC,TOPMed,gnomAD
rs1249172671	p.Val435Ala	missense variant	-	NC_000011.10:g.126010589A>G	TOPMed
rs114866803	p.Arg437His	missense variant	-	NC_000011.10:g.126010583C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372488329	p.Arg437Gly	missense variant	-	NC_000011.10:g.126010584G>C	ESP,ExAC,gnomAD
RCV000649537	p.Arg437His	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126010583C>T	ClinVar
rs372488329	p.Arg437Cys	missense variant	-	NC_000011.10:g.126010584G>A	ESP,ExAC,gnomAD
rs367936160	p.Trp438Arg	missense variant	-	NC_000011.10:g.126010581A>G	ESP
rs1166680054	p.Tyr439Cys	missense variant	-	NC_000011.10:g.126010577T>C	TOPMed,gnomAD
rs1181291795	p.His442Arg	missense variant	-	NC_000011.10:g.126010568T>C	gnomAD
rs757158753	p.His442Asn	missense variant	-	NC_000011.10:g.126010569G>T	ExAC,gnomAD
rs753825222	p.Gly443Val	missense variant	-	NC_000011.10:g.126010565C>A	ExAC,TOPMed,gnomAD
rs753825222	p.Gly443Glu	missense variant	-	NC_000011.10:g.126010565C>T	ExAC,TOPMed,gnomAD
rs1040178465	p.Ser447Arg	missense variant	-	NC_000011.10:g.126010552G>C	TOPMed
rs923064231	p.Ser447Gly	missense variant	-	NC_000011.10:g.126010554T>C	TOPMed
rs1209875838	p.His448Arg	missense variant	-	NC_000011.10:g.126010550T>C	gnomAD
NCI-TCGA novel	p.Pro449Leu	missense variant	-	NC_000011.10:g.126010547G>A	NCI-TCGA
NCI-TCGA novel	p.Leu453Met	missense variant	-	NC_000011.10:g.126010536G>T	NCI-TCGA
rs187095965	p.Ser455Leu	missense variant	-	NC_000011.10:g.126010529G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs187095965	p.Ser455Trp	missense variant	-	NC_000011.10:g.126010529G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs187095965	p.Ser455Ter	stop gained	-	NC_000011.10:g.126010529G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs754733084	p.Arg458Ter	stop gained	-	NC_000011.10:g.126010521G>A	ExAC,gnomAD
rs754733084	p.Arg458Gly	missense variant	-	NC_000011.10:g.126010521G>C	ExAC,gnomAD
rs751107295	p.Arg458Gln	missense variant	-	NC_000011.10:g.126010520C>T	ExAC,TOPMed,gnomAD
rs1366700112	p.Ser460Leu	missense variant	-	NC_000011.10:g.126010514G>A	gnomAD
rs146002530	p.Ser463Pro	missense variant	-	NC_000011.10:g.126010506A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146002530	p.Ser463Thr	missense variant	-	NC_000011.10:g.126010506A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763530578	p.Arg464Ile	missense variant	-	NC_000011.10:g.126010502C>A	ExAC,gnomAD
rs773719753	p.Pro465His	missense variant	-	NC_000011.10:g.126010499G>T	ExAC,TOPMed,gnomAD
rs773719753	p.Pro465Leu	missense variant	-	NC_000011.10:g.126010499G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu466Lys	missense variant	-	NC_000011.10:g.126010497C>T	NCI-TCGA
rs1458229102	p.Leu470Arg	missense variant	-	NC_000011.10:g.126010484A>C	TOPMed,gnomAD
rs1234237156	p.Pro472Arg	missense variant	-	NC_000011.10:g.126010478G>C	TOPMed
RCV000331298	p.Pro472Ala	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126010479G>C	ClinVar
rs750020763	p.Pro472Ala	missense variant	-	NC_000011.10:g.126010479G>C	ExAC,TOPMed,gnomAD
rs762180366	p.Val473Ala	missense variant	-	NC_000011.10:g.126010475A>G	ExAC,TOPMed,gnomAD
rs1180763563	p.Tyr474Ter	stop gained	-	NC_000011.10:g.126010471G>T	TOPMed
rs776919255	p.Tyr474Cys	missense variant	-	NC_000011.10:g.126010472T>C	ExAC,gnomAD
rs142603462	p.Val476Ile	missense variant	-	NC_000011.10:g.126010467C>T	ESP,ExAC,TOPMed,gnomAD
rs142603462	p.Val476Leu	missense variant	-	NC_000011.10:g.126010467C>G	ESP,ExAC,TOPMed,gnomAD
rs1165882926	p.Leu477Val	missense variant	-	NC_000011.10:g.126010464G>C	TOPMed
COSM1352410	p.Ser478TrpPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.126010453_126010460AGCTTGGG>-	NCI-TCGA Cosmic
rs775528700	p.Gln479Arg	missense variant	-	NC_000011.10:g.126010457T>C	ExAC,gnomAD
rs1193229994	p.Gln479Glu	missense variant	-	NC_000011.10:g.126010458G>C	gnomAD
rs138020239	p.Ala480Val	missense variant	-	NC_000011.10:g.126010454G>A	ESP,ExAC,TOPMed,gnomAD
rs1265265977	p.Ala480Thr	missense variant	-	NC_000011.10:g.126010455C>T	gnomAD
rs745982695	p.Gly481Val	missense variant	-	NC_000011.10:g.126010451C>A	ExAC,TOPMed,gnomAD
rs1274678871	p.Ser483Gly	missense variant	-	NC_000011.10:g.126010446T>C	gnomAD
rs777704059	p.Ser483Arg	missense variant	-	NC_000011.10:g.126010444G>C	ExAC,TOPMed,gnomAD
rs777704059	p.Ser483Arg	missense variant	-	NC_000011.10:g.126010444G>T	ExAC,TOPMed,gnomAD
rs1002338849	p.Ser484Cys	missense variant	-	NC_000011.10:g.126010442G>C	TOPMed,gnomAD
rs1002338849	p.Ser484Phe	missense variant	-	NC_000011.10:g.126010442G>A	TOPMed,gnomAD
rs969585556	p.Leu485Phe	missense variant	-	NC_000011.10:g.126010440G>A	TOPMed,gnomAD
rs969585556	p.Leu485Val	missense variant	-	NC_000011.10:g.126010440G>C	TOPMed,gnomAD
rs747959185	p.Ile487Thr	missense variant	-	NC_000011.10:g.126010433A>G	ExAC,gnomAD
rs756014069	p.Ile487Val	missense variant	-	NC_000011.10:g.126010434T>C	ExAC,gnomAD
rs754643422	p.Gln488His	missense variant	-	NC_000011.10:g.126010429C>A	ExAC,gnomAD
rs377400617	p.Gln488Arg	missense variant	-	NC_000011.10:g.126010430T>C	ESP,ExAC,TOPMed,gnomAD
rs1295277785	p.Ala489Ser	missense variant	-	NC_000011.10:g.126010428C>A	TOPMed
rs374438894	p.Val490Met	missense variant	-	NC_000011.10:g.126010425C>T	ESP,ExAC,gnomAD
rs374438894	p.Val490Leu	missense variant	-	NC_000011.10:g.126010425C>G	ESP,ExAC,gnomAD
rs1371468076	p.Gln492Glu	missense variant	-	NC_000011.10:g.126010419G>C	gnomAD
rs766151087	p.Glu493Asp	missense variant	-	NC_000011.10:g.126010414T>G	ExAC,TOPMed,gnomAD
rs757942170	p.His494Arg	missense variant	-	NC_000011.10:g.126010412T>C	ExAC,gnomAD
rs749914707	p.Ala495Val	missense variant	-	NC_000011.10:g.126010409G>A	ExAC,TOPMed,gnomAD
rs777024756	p.Gly496Arg	missense variant	-	NC_000011.10:g.126010407C>T	ExAC,gnomAD
rs1243162237	p.Lys497Arg	missense variant	-	NC_000011.10:g.126010403T>C	TOPMed
rs61917837	p.Ile499Val	missense variant	-	NC_000011.10:g.126010398T>C	TOPMed
rs61917837	p.Ile499Phe	missense variant	-	NC_000011.10:g.126010398T>A	TOPMed
rs761054118	p.Glu501Lys	missense variant	-	NC_000011.10:g.126010392C>T	ExAC,TOPMed,gnomAD
rs866758290	p.Ala503Thr	missense variant	-	NC_000011.10:g.126010386C>T	gnomAD
rs866758290	p.Ala503Ser	missense variant	-	NC_000011.10:g.126010386C>A	gnomAD
rs377031654	p.Asn504Asp	missense variant	-	NC_000011.10:g.126010383T>C	ESP,ExAC,gnomAD
rs1475324966	p.Glu505Asp	missense variant	-	NC_000011.10:g.126010378T>A	TOPMed
rs565398022	p.His506Arg	missense variant	-	NC_000011.10:g.126010376T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly507Asp	missense variant	-	NC_000011.10:g.126010373C>T	NCI-TCGA
rs745899080	p.Thr508Ile	missense variant	-	NC_000011.10:g.126010370G>A	ExAC,TOPMed,gnomAD
rs769763689	p.Ala513Thr	missense variant	-	NC_000011.10:g.126010356C>T	ExAC,gnomAD
rs769763689	p.Ala513Ser	missense variant	-	NC_000011.10:g.126010356C>A	ExAC,gnomAD
rs943175241	p.Ala513Val	missense variant	-	NC_000011.10:g.126010355G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser514Cys	missense variant	-	NC_000011.10:g.126010352G>C	NCI-TCGA
rs781110937	p.Leu515Phe	missense variant	-	NC_000011.10:g.126010350G>A	ExAC,gnomAD
rs754770034	p.Met516Ile	missense variant	-	NC_000011.10:g.126010345C>T	ExAC,TOPMed,gnomAD
rs1246011574	p.Val518Leu	missense variant	-	NC_000011.10:g.126010341C>G	TOPMed,gnomAD
rs776668606	p.Pro519Ser	missense variant	-	NC_000011.10:g.126006055G>A	ExAC
rs768719226	p.Pro519Leu	missense variant	-	NC_000011.10:g.126006054G>A	ExAC,gnomAD
COSM267892	p.Phe520Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126006051A>G	NCI-TCGA Cosmic
rs746787685	p.Thr524Arg	missense variant	-	NC_000011.10:g.126006039G>C	ExAC,gnomAD
rs780062040	p.Glu527Gly	missense variant	-	NC_000011.10:g.126006030T>C	ExAC,gnomAD
rs1465306548	p.Thr528Ala	missense variant	-	NC_000011.10:g.126006028T>C	TOPMed,gnomAD
rs771726023	p.Thr530Pro	missense variant	-	NC_000011.10:g.126006022T>G	ExAC,gnomAD
rs745557470	p.Leu531Phe	missense variant	-	NC_000011.10:g.126006019G>A	ExAC,TOPMed,gnomAD
rs745557470	p.Leu531Ile	missense variant	-	NC_000011.10:g.126006019G>T	ExAC,TOPMed,gnomAD
rs778651865	p.Pro532Ser	missense variant	-	NC_000011.10:g.126006016G>A	ExAC,gnomAD
rs778651865	p.Pro532Ala	missense variant	-	NC_000011.10:g.126006016G>C	ExAC,gnomAD
rs756684503	p.Ala534Thr	missense variant	-	NC_000011.10:g.126006010C>T	ExAC,TOPMed,gnomAD
rs76247998	p.Ala535Pro	missense variant	-	NC_000011.10:g.126006007C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000317247	p.Ala535Thr	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126006007C>T	ClinVar
rs76247998	p.Ala535Thr	missense variant	-	NC_000011.10:g.126006007C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs554834459	p.Asn537Lys	missense variant	-	NC_000011.10:g.126005999A>T	1000Genomes
rs753052423	p.Asp538Gly	missense variant	-	NC_000011.10:g.126005997T>C	ExAC,TOPMed,gnomAD
rs756667047	p.Asp538Tyr	missense variant	-	NC_000011.10:g.126005998C>A	ExAC,gnomAD
rs1256972036	p.Asp539Val	missense variant	-	NC_000011.10:g.126005994T>A	TOPMed
rs148304849	p.Arg540Thr	missense variant	-	NC_000011.10:g.126005991C>G	ESP,ExAC,TOPMed,gnomAD
rs148304849	p.Arg540Ile	missense variant	-	NC_000011.10:g.126005991C>A	ESP,ExAC,TOPMed,gnomAD
COSM3808727	p.Ser541Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126005989T>G	NCI-TCGA Cosmic
rs751681498	p.Arg543Thr	missense variant	-	NC_000011.10:g.126005982C>G	ExAC,gnomAD
rs1362581992	p.Asp544Ala	missense variant	-	NC_000011.10:g.126005979T>G	gnomAD
rs1382832847	p.Leu551Pro	missense variant	-	NC_000011.10:g.126005958A>G	gnomAD
rs886047977	p.Ser552Gly	missense variant	-	NC_000011.10:g.126005956T>C	-
RCV000262034	p.Ser552Gly	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126005956T>C	ClinVar
rs143213791	p.Pro555Leu	missense variant	-	NC_000011.10:g.126005946G>A	ESP,ExAC,TOPMed,gnomAD
RCV000497604	p.Pro555Ser	missense variant	-	NC_000011.10:g.126005947G>A	ClinVar
rs1555124296	p.Pro555Ser	missense variant	-	NC_000011.10:g.126005947G>A	-
rs149168182	p.Val556Leu	missense variant	-	NC_000011.10:g.126005944C>G	1000Genomes,ESP,ExAC,TOPMed
NCI-TCGA novel	p.His559GlnPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.126005933_126005934insATGAAGTATAATT	NCI-TCGA
rs1253158165	p.Pro560His	missense variant	-	NC_000011.10:g.126005931G>T	gnomAD
NCI-TCGA novel	p.Pro560Leu	missense variant	-	NC_000011.10:g.126005931G>A	NCI-TCGA
rs538747187	p.Ser561Thr	missense variant	-	NC_000011.10:g.126005928C>G	1000Genomes,ExAC,gnomAD
rs758716448	p.Val563Leu	missense variant	-	NC_000011.10:g.126005923C>A	ExAC,TOPMed,gnomAD
rs933563819	p.Glu564Ala	missense variant	-	NC_000011.10:g.126005919T>G	TOPMed
rs147062062	p.Ala566Val	missense variant	-	NC_000011.10:g.126005913G>A	ESP,ExAC,TOPMed,gnomAD
rs748787756	p.Pro567Ser	missense variant	-	NC_000011.10:g.126005911G>A	ExAC,gnomAD
rs1343425576	p.Pro567Leu	missense variant	-	NC_000011.10:g.126005910G>A	gnomAD
rs777327604	p.Glu568Gln	missense variant	-	NC_000011.10:g.126005908C>G	ExAC,TOPMed,gnomAD
rs1290533215	p.Lys569Gln	missense variant	-	NC_000011.10:g.126005905T>G	TOPMed,gnomAD
rs1429327633	p.Asn570Ile	missense variant	-	NC_000011.10:g.126005901T>A	gnomAD
rs373603972	p.Ala571Thr	missense variant	-	NC_000011.10:g.126005899C>T	ESP,ExAC,TOPMed,gnomAD
rs781732748	p.Ser572Asn	missense variant	-	NC_000011.10:g.126005895C>T	ExAC,TOPMed,gnomAD
rs766454242	p.Gly573Val	missense variant	-	NC_000011.10:g.126005892C>A	ExAC,gnomAD
rs751956950	p.Gly573Ser	missense variant	-	NC_000011.10:g.126005893C>T	ExAC,TOPMed,gnomAD
rs758713160	p.Ser575Phe	missense variant	-	NC_000011.10:g.126005886G>A	ExAC,gnomAD
rs145492265	p.Pro577Ser	missense variant	-	NC_000011.10:g.126005881G>A	-
NCI-TCGA novel	p.Pro577His	missense variant	-	NC_000011.10:g.126005880G>T	NCI-TCGA
rs750499517	p.Asp578Asn	missense variant	-	NC_000011.10:g.126005878C>T	ExAC,TOPMed,gnomAD
rs765455628	p.Ala579Val	missense variant	-	NC_000011.10:g.126005874G>A	ExAC,gnomAD
rs765455628	p.Ala579Asp	missense variant	-	NC_000011.10:g.126005874G>T	ExAC,gnomAD
rs1247017117	p.Pro580Leu	missense variant	-	NC_000011.10:g.126005871G>A	gnomAD
rs1421469485	p.Pro580Ala	missense variant	-	NC_000011.10:g.126005872G>C	TOPMed
NCI-TCGA novel	p.Ile581Met	missense variant	-	NC_000011.10:g.126005867G>C	NCI-TCGA
rs141782811	p.Ile581Val	missense variant	-	NC_000011.10:g.126005869T>C	ESP,TOPMed,gnomAD
RCV000265457	p.Ile581Val	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126005869T>C	ClinVar
rs775526308	p.Ile582Leu	missense variant	-	NC_000011.10:g.126005866T>A	ExAC,gnomAD
rs775526308	p.Ile582Val	missense variant	-	NC_000011.10:g.126005866T>C	ExAC,gnomAD
rs1207635656	p.Leu583Arg	missense variant	-	NC_000011.10:g.126005862A>C	gnomAD
rs759191464	p.Pro585Leu	missense variant	-	NC_000011.10:g.126005856G>A	ExAC,gnomAD
rs770489168	p.Pro586Leu	missense variant	-	NC_000011.10:g.126005853G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro586HisPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.126005853G>-	NCI-TCGA
rs770489168	p.Pro586Arg	missense variant	-	NC_000011.10:g.126005853G>C	ExAC,TOPMed,gnomAD
rs770489168	p.Pro586Gln	missense variant	-	NC_000011.10:g.126005853G>T	ExAC,TOPMed,gnomAD
rs1436075469	p.Gln587Arg	missense variant	-	NC_000011.10:g.126005850T>C	TOPMed
rs921014963	p.His589Arg	missense variant	-	NC_000011.10:g.126005844T>C	TOPMed,gnomAD
rs1344081577	p.Thr590Arg	missense variant	-	NC_000011.10:g.126005841G>C	gnomAD
rs375889178	p.Pro591Ser	missense variant	-	NC_000011.10:g.126005839G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro591ArgPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.126005839_126005840GT>-	NCI-TCGA
COSM4019082	p.Pro591Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126005839G>T	NCI-TCGA Cosmic
rs1410096982	p.Thr593Met	missense variant	-	NC_000011.10:g.126005832G>A	TOPMed,gnomAD
rs781486713	p.Tyr594Cys	missense variant	-	NC_000011.10:g.126005829T>C	ExAC
rs1326304047	p.Asn595Lys	missense variant	-	NC_000011.10:g.126005825G>T	gnomAD
rs755522931	p.Trp598Cys	missense variant	-	NC_000011.10:g.126005816C>G	ExAC,gnomAD
rs747322659	p.Ala600Thr	missense variant	-	NC_000011.10:g.126005812C>T	ExAC,gnomAD
rs780507127	p.Gly601Val	missense variant	-	NC_000011.10:g.126005808C>A	ExAC,gnomAD
rs758671282	p.Lys602Thr	missense variant	-	NC_000011.10:g.126005805T>G	ExAC,TOPMed,gnomAD
rs527875178	p.Asp603Gly	missense variant	-	NC_000011.10:g.126005802T>C	1000Genomes,TOPMed,gnomAD
rs527875178	p.Asp603Val	missense variant	-	NC_000011.10:g.126005802T>A	1000Genomes,TOPMed,gnomAD
rs765585405	p.Gly604Val	missense variant	-	NC_000011.10:g.126005799C>A	ExAC,TOPMed,gnomAD
rs765585405	p.Gly604Asp	missense variant	-	NC_000011.10:g.126005799C>T	ExAC,TOPMed,gnomAD
rs1444575526	p.Gly605Val	missense variant	-	NC_000011.10:g.126005796C>A	gnomAD
NCI-TCGA novel	p.Ile608Thr	missense variant	-	NC_000011.10:g.126005787A>G	NCI-TCGA
RCV000305269	p.Asn609Ser	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126005784T>C	ClinVar
rs756054017	p.Asn609Ser	missense variant	-	NC_000011.10:g.126005784T>C	ExAC,TOPMed,gnomAD
RCV000525030	p.Asn609Ser	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126005784T>C	ClinVar
COSM924629	p.Ala610Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126005782C>T	NCI-TCGA Cosmic
COSM3415657	p.Ala610Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126005781G>A	NCI-TCGA Cosmic
rs372854465	p.Ala610Gly	missense variant	-	NC_000011.10:g.126005781G>C	ESP,ExAC,TOPMed,gnomAD
rs983004629	p.Tyr611Ter	stop gained	-	NC_000011.10:g.126005777G>T	gnomAD
rs1372194473	p.Phe612Leu	missense variant	-	NC_000011.10:g.126005776A>G	gnomAD
NCI-TCGA novel	p.Tyr615Asn	missense variant	-	NC_000011.10:g.126005767A>T	NCI-TCGA
rs773989495	p.Tyr615His	missense variant	-	NC_000011.10:g.126005767A>G	ExAC,gnomAD
rs144938780	p.Arg616Gln	missense variant	-	NC_000011.10:g.126005763C>T	ESP,ExAC,TOPMed,gnomAD
RCV000268824	p.Arg616Gln	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126005763C>T	ClinVar
COSM4761078	p.Arg616Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.126005764G>A	NCI-TCGA Cosmic
rs766248827	p.Arg616Gly	missense variant	-	NC_000011.10:g.126005764G>C	ExAC,TOPMed,gnomAD
RCV000308816	p.Asp619His	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126004073C>G	ClinVar
rs141081456	p.Asp619His	missense variant	-	NC_000011.10:g.126004073C>G	ESP,ExAC,TOPMed,gnomAD
RCV000512644	p.Asp619His	missense variant	-	NC_000011.10:g.126004073C>G	ClinVar
COSM924628	p.Asp620Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126004069T>C	NCI-TCGA Cosmic
rs375951997	p.Val622Ile	missense variant	-	NC_000011.10:g.126004064C>T	ESP,ExAC,TOPMed,gnomAD
rs746219316	p.Gly623Val	missense variant	-	NC_000011.10:g.126004060C>A	ExAC,TOPMed,gnomAD
rs746219316	p.Gly623Asp	missense variant	-	NC_000011.10:g.126004060C>T	ExAC,TOPMed,gnomAD
rs775997399	p.Gly623Ser	missense variant	-	NC_000011.10:g.126004061C>T	ExAC,gnomAD
COSM924627	p.Met624Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126004056C>T	NCI-TCGA Cosmic
rs372269894	p.Met624Val	missense variant	-	NC_000011.10:g.126004058T>C	ESP,ExAC,TOPMed,gnomAD
rs1359571603	p.Ser627Arg	missense variant	-	NC_000011.10:g.126004047G>T	gnomAD
rs151143280	p.Trp628Ter	stop gained	-	NC_000011.10:g.126004044C>T	ESP,ExAC,TOPMed,gnomAD
rs1208368356	p.His629Tyr	missense variant	-	NC_000011.10:g.126004043G>A	TOPMed
rs559379897	p.Thr630Met	missense variant	-	NC_000011.10:g.126004039G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs559379897	p.Thr630Arg	missense variant	-	NC_000011.10:g.126004039G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000390567	p.Thr630Met	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126004039G>A	ClinVar
rs368328253	p.Thr630Ala	missense variant	-	NC_000011.10:g.126004040T>C	ESP,ExAC,TOPMed,gnomAD
rs752726620	p.Arg632Gly	missense variant	-	NC_000011.10:g.126004034G>C	ExAC,TOPMed,gnomAD
rs752726620	p.Arg632Ter	stop gained	-	NC_000011.10:g.126004034G>A	ExAC,TOPMed,gnomAD
rs750112081	p.Arg632Gln	missense variant	-	NC_000011.10:g.126004033C>T	ExAC,gnomAD
rs1171697357	p.Val633Ala	missense variant	-	NC_000011.10:g.126004030A>G	gnomAD
rs1225621619	p.Ser636Asn	missense variant	-	NC_000011.10:g.126004021C>T	gnomAD
rs758389908	p.Ser636Gly	missense variant	-	NC_000011.10:g.126004022T>C	ExAC,TOPMed,gnomAD
rs750215136	p.Asn638Ser	missense variant	-	NC_000011.10:g.126004015T>C	ExAC,gnomAD
rs998670367	p.Glu639Asp	missense variant	-	NC_000011.10:g.126004011C>G	TOPMed,gnomAD
rs901658276	p.Leu640Phe	missense variant	-	NC_000011.10:g.126004010G>A	TOPMed,gnomAD
rs761535678	p.His641Arg	missense variant	-	NC_000011.10:g.126004006T>C	ExAC,gnomAD
rs761535678	p.His641Pro	missense variant	-	NC_000011.10:g.126004006T>G	ExAC,gnomAD
rs764945874	p.Ala643Ser	missense variant	-	NC_000011.10:g.126004001C>A	ExAC,TOPMed,gnomAD
rs764945874	p.Ala643Thr	missense variant	-	NC_000011.10:g.126004001C>T	ExAC,TOPMed,gnomAD
rs970284479	p.Glu644Gln	missense variant	-	NC_000011.10:g.126003998C>G	TOPMed
rs1305726788	p.Glu644Gly	missense variant	-	NC_000011.10:g.126003997T>C	gnomAD
rs200961603	p.Pro647Leu	missense variant	-	NC_000011.10:g.126003988G>A	ESP,ExAC,TOPMed,gnomAD
RCV000348456	p.Pro647Leu	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126003988G>A	ClinVar
NCI-TCGA novel	p.Ser648Tyr	missense variant	-	NC_000011.10:g.126003985G>T	NCI-TCGA
rs573535706	p.Ser649Asn	missense variant	-	NC_000011.10:g.126003982C>T	1000Genomes,ExAC,gnomAD
rs372079041	p.Tyr651His	missense variant	-	NC_000011.10:g.126003977A>G	ESP,ExAC,TOPMed,gnomAD
rs1555123650	p.Glu652Asp	missense variant	-	NC_000011.10:g.126003972T>G	-
RCV000624071	p.Glu652Asp	missense variant	Inborn genetic diseases	NC_000011.10:g.126003972T>G	ClinVar
rs774838876	p.Leu654Ser	missense variant	-	NC_000011.10:g.126003967A>G	ExAC,gnomAD
COSM74108	p.Met655Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126003963C>A	NCI-TCGA Cosmic
rs563267429	p.Ser659Arg	missense variant	-	NC_000011.10:g.126003951G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs773419494	p.Ala660Thr	missense variant	-	NC_000011.10:g.126003950C>T	ExAC,TOPMed,gnomAD
rs762024254	p.Ala661Glu	missense variant	-	NC_000011.10:g.126003946G>T	TOPMed,gnomAD
rs769923805	p.Ala661Thr	missense variant	-	NC_000011.10:g.126003947C>T	ExAC,TOPMed,gnomAD
rs748247627	p.Gly662Asp	missense variant	-	NC_000011.10:g.126003943C>T	ExAC,gnomAD
rs368177231	p.Glu663Asp	missense variant	-	NC_000011.10:g.126003939T>A	ESP,ExAC,TOPMed,gnomAD
rs745756890	p.Gln665His	missense variant	-	NC_000011.10:g.126003933T>G	ExAC,gnomAD
rs1036869171	p.Met668Arg	missense variant	-	NC_000011.10:g.126003925A>C	TOPMed
rs1250566640	p.Met668Val	missense variant	-	NC_000011.10:g.126003926T>C	gnomAD
rs1257675312	p.Arg672Gln	missense variant	-	NC_000011.10:g.126003913C>T	gnomAD
rs778852790	p.Arg672Ter	stop gained	-	NC_000011.10:g.126003914G>A	ExAC,gnomAD
rs757008392	p.Lys675Arg	missense variant	-	NC_000011.10:g.126003904T>C	ExAC,TOPMed,gnomAD
rs777466382	p.Thr678Ala	missense variant	-	NC_000011.10:g.126001845T>C	ExAC,gnomAD
rs768236792	p.Thr678AsnPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.126001844_126001845insT	NCI-TCGA
rs201628624	p.Ala679Glu	missense variant	-	NC_000011.10:g.126001841G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201628624	p.Ala679Val	missense variant	-	NC_000011.10:g.126001841G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768098647	p.Ser680Leu	missense variant	-	NC_000011.10:g.126001838G>A	gnomAD
rs1262216195	p.Lys682Glu	missense variant	-	NC_000011.10:g.126001833T>C	TOPMed
rs145983470	p.Thr684Ser	missense variant	-	NC_000011.10:g.126001826G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000514212	p.Thr684Ser	missense variant	-	NC_000011.10:g.126001826G>C	ClinVar
RCV000279045	p.Thr684Ser	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126001826G>C	ClinVar
rs12274923	p.Ala686Val	missense variant	-	NC_000011.10:g.126001820G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs572486967	p.Ala686Ser	missense variant	-	NC_000011.10:g.126001821C>A	1000Genomes,ExAC,gnomAD
RCV000373562	p.Ala686Val	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.126001820G>A	ClinVar
rs572486967	p.Ala686Thr	missense variant	-	NC_000011.10:g.126001821C>T	1000Genomes,ExAC,gnomAD
rs762195487	p.Ser688Cys	missense variant	-	NC_000011.10:g.126001814G>C	ExAC
rs387906995	p.Pro689Ala	missense variant	Holoprosencephaly 11 (hpe11)	NC_000011.10:g.126001812G>C	ExAC,TOPMed,gnomAD
rs387906995	p.Pro689Ser	missense variant	Holoprosencephaly 11 (hpe11)	NC_000011.10:g.126001812G>A	ExAC,TOPMed,gnomAD
rs768877366	p.Pro689Leu	missense variant	-	NC_000011.10:g.126001811G>A	ExAC,gnomAD
rs387906995	p.Pro689Ala	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126001812G>C	UniProt,dbSNP
VAR_066498	p.Pro689Ala	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126001812G>C	UniProt
RCV000419072	p.Pro689Ala	missense variant	-	NC_000011.10:g.126001812G>C	ClinVar
rs760729204	p.Pro690Leu	missense variant	-	NC_000011.10:g.126001808G>A	ExAC,TOPMed,gnomAD
rs1358889341	p.Val691Ala	missense variant	-	NC_000011.10:g.126001805A>G	gnomAD
rs139323558	p.Val691Met	missense variant	-	NC_000011.10:g.126001806C>T	ESP,ExAC,TOPMed,gnomAD
rs139323558	p.Val691Met	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126001806C>T	UniProt,dbSNP
VAR_066499	p.Val691Met	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.126001806C>T	UniProt
rs139323558	p.Val691Leu	missense variant	-	NC_000011.10:g.126001806C>A	ESP,ExAC,TOPMed,gnomAD
rs986863818	p.Gly692Ser	missense variant	-	NC_000011.10:g.126001803C>T	TOPMed,gnomAD
rs777784202	p.Gly692Ala	missense variant	-	NC_000011.10:g.126001802C>G	ExAC,gnomAD
rs199733746	p.Ile693Val	missense variant	-	NC_000011.10:g.126001800T>C	1000Genomes,ExAC,gnomAD
rs1428947026	p.Ile693Met	missense variant	-	NC_000011.10:g.126001798G>C	TOPMed
NCI-TCGA novel	p.Lys695Arg	missense variant	-	NC_000011.10:g.126001793T>C	NCI-TCGA
rs374674635	p.Pro697Leu	missense variant	-	NC_000011.10:g.126001787G>A	ESP,ExAC,TOPMed,gnomAD
rs1380130469	p.Pro697Thr	missense variant	-	NC_000011.10:g.126001788G>T	gnomAD
rs540592065	p.Val698Ile	missense variant	-	NC_000011.10:g.126001785C>T	ExAC,gnomAD
rs1382929875	p.Ser700Ala	missense variant	-	NC_000011.10:g.126001779A>C	gnomAD
COSM428653	p.Glu701Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.126001776C>G	NCI-TCGA Cosmic
rs1407414110	p.Glu701Gly	missense variant	-	NC_000011.10:g.126001775T>C	gnomAD
NCI-TCGA novel	p.Ala703Val	missense variant	-	NC_000011.10:g.126001769G>A	NCI-TCGA
rs200695470	p.Asn705Ser	missense variant	-	NC_000011.10:g.126001763T>C	1000Genomes,ExAC,gnomAD
rs758917619	p.Asn706Ser	missense variant	-	NC_000011.10:g.126001760T>C	ExAC,gnomAD
rs1343553572	p.Asn706Asp	missense variant	-	NC_000011.10:g.126001761T>C	TOPMed
rs1190758159	p.Phe707Leu	missense variant	-	NC_000011.10:g.126001758A>G	gnomAD
rs1445436822	p.Val709Met	missense variant	-	NC_000011.10:g.126001752C>T	gnomAD
rs765777189	p.Val710Leu	missense variant	-	NC_000011.10:g.126001749C>G	ExAC,TOPMed,gnomAD
rs765777189	p.Val710Ile	missense variant	-	NC_000011.10:g.126001749C>T	ExAC,TOPMed,gnomAD
rs1223588811	p.Leu711Ile	missense variant	-	NC_000011.10:g.126001746G>T	gnomAD
rs754257431	p.Thr712Ala	missense variant	-	NC_000011.10:g.126001743T>C	ExAC,TOPMed,gnomAD
rs764292682	p.Asp713Tyr	missense variant	-	NC_000011.10:g.126001740C>A	ExAC,gnomAD
rs1340727055	p.Asp713Gly	missense variant	-	NC_000011.10:g.126001739T>C	gnomAD
NCI-TCGA novel	p.Ser715Phe	missense variant	-	NC_000011.10:g.126001733G>A	NCI-TCGA
rs775613302	p.Ser715Cys	missense variant	-	NC_000011.10:g.126001733G>C	ExAC,gnomAD
rs771993207	p.His717Tyr	missense variant	-	NC_000011.10:g.126001728G>A	ExAC,TOPMed,gnomAD
rs759696165	p.Gly719Arg	missense variant	-	NC_000011.10:g.126001722C>T	ExAC,gnomAD
rs772960620	p.Val720Leu	missense variant	-	NC_000011.10:g.126001719C>G	ExAC,gnomAD
NCI-TCGA novel	p.Val720Ile	missense variant	-	NC_000011.10:g.126001719C>T	NCI-TCGA
COSM3445006	p.Pro721Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125997407G>A	NCI-TCGA Cosmic
rs1344550777	p.Pro721Ala	missense variant	-	NC_000011.10:g.125997408G>C	TOPMed,gnomAD
rs1469425757	p.Ala723Thr	missense variant	-	NC_000011.10:g.125997402C>T	gnomAD
rs761883698	p.Arg726Gln	missense variant	-	NC_000011.10:g.125997392C>T	ExAC,TOPMed,gnomAD
rs760702944	p.Arg726Gly	missense variant	-	NC_000011.10:g.125997393G>C	ExAC,TOPMed,gnomAD
rs760702944	p.Arg726Trp	missense variant	-	NC_000011.10:g.125997393G>A	ExAC,TOPMed,gnomAD
rs761883698	p.Arg726Gln	missense variant	-	NC_000011.10:g.125997392C>T	NCI-TCGA
rs1470552665	p.Pro727Leu	missense variant	-	NC_000011.10:g.125997389G>A	gnomAD
COSM924625	p.Ser730Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125997380G>A	NCI-TCGA Cosmic
rs776547693	p.Thr731Ala	missense variant	-	NC_000011.10:g.125997378T>C	ExAC,TOPMed,gnomAD
rs776547693	p.Thr731Pro	missense variant	-	NC_000011.10:g.125997378T>G	ExAC,TOPMed,gnomAD
rs1306843025	p.Thr731Ile	missense variant	-	NC_000011.10:g.125997377G>A	TOPMed
NCI-TCGA novel	p.Thr731Ser	missense variant	-	NC_000011.10:g.125997378T>A	NCI-TCGA
rs746853510	p.Thr735Ala	missense variant	-	NC_000011.10:g.125997366T>C	ExAC,gnomAD
rs149325046	p.Tyr738Cys	missense variant	-	NC_000011.10:g.125997356T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149325046	p.Tyr738Ser	missense variant	-	NC_000011.10:g.125997356T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149325046	p.Tyr738Cys	missense variant	-	NC_000011.10:g.125997356T>C	NCI-TCGA
rs1475911989	p.Pro743Ser	missense variant	-	NC_000011.10:g.125997342G>A	TOPMed
NCI-TCGA novel	p.Arg744Gln	missense variant	-	NC_000011.10:g.125997338C>T	NCI-TCGA
rs953453508	p.Arg744Trp	missense variant	-	NC_000011.10:g.125997339G>A	TOPMed,gnomAD
rs953453508	p.Arg744Trp	missense variant	-	NC_000011.10:g.125997339G>A	NCI-TCGA
RCV000377098	p.Gly747Arg	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125997330C>T	ClinVar
rs745363657	p.Gly747Arg	missense variant	-	NC_000011.10:g.125997330C>T	ExAC,TOPMed,gnomAD
rs1433190946	p.Gly748Ser	missense variant	-	NC_000011.10:g.125997327C>T	TOPMed
rs1454472731	p.Gly748Val	missense variant	-	NC_000011.10:g.125997326C>A	gnomAD
rs757737281	p.Ser749Phe	missense variant	-	NC_000011.10:g.125997323G>A	ExAC,gnomAD
rs749742672	p.Pro750Ala	missense variant	-	NC_000011.10:g.125997321G>C	ExAC,TOPMed,gnomAD
rs749742672	p.Pro750Ala	missense variant	-	NC_000011.10:g.125997321G>C	NCI-TCGA,NCI-TCGA Cosmic
rs1356261423	p.Ile751Val	missense variant	-	NC_000011.10:g.125997318T>C	TOPMed
rs1450375488	p.Ala753Val	missense variant	-	NC_000011.10:g.125997311G>A	TOPMed
COSM686486	p.Ala753Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125997312C>T	NCI-TCGA Cosmic
rs138625022	p.Lys755Arg	missense variant	-	NC_000011.10:g.125997305T>C	ESP,ExAC,TOPMed,gnomAD
rs753123435	p.Glu757Lys	missense variant	-	NC_000011.10:g.125997300C>T	ExAC,gnomAD
rs1407292760	p.Glu757Gly	missense variant	-	NC_000011.10:g.125997299T>C	gnomAD
rs753123435	p.Glu757Lys	missense variant	-	NC_000011.10:g.125997300C>T	NCI-TCGA,NCI-TCGA Cosmic
rs150587299	p.Arg760Leu	missense variant	-	NC_000011.10:g.125997290C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs551721918	p.Arg760Trp	missense variant	-	NC_000011.10:g.125997291G>A	NCI-TCGA,NCI-TCGA Cosmic
rs551721918	p.Arg760Trp	missense variant	-	NC_000011.10:g.125997291G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs150587299	p.Arg760Gln	missense variant	-	NC_000011.10:g.125997290C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000322489	p.Arg760Gln	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125997290C>T	ClinVar
rs1430059449	p.Arg762Gly	missense variant	-	NC_000011.10:g.125997285T>C	TOPMed,gnomAD
rs370444323	p.Asn765Ser	missense variant	-	NC_000011.10:g.125997275T>C	ESP,ExAC,TOPMed,gnomAD
rs370444323	p.Asn765Thr	missense variant	-	NC_000011.10:g.125997275T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp766Cys	missense variant	-	NC_000011.10:g.125997271C>A	NCI-TCGA
rs760373405	p.Leu767Pro	missense variant	-	NC_000011.10:g.125997269A>G	ExAC,gnomAD
rs543354699	p.Ala769Val	missense variant	-	NC_000011.10:g.125997263G>A	1000Genomes,ExAC,gnomAD
rs1281443862	p.Asp772Tyr	missense variant	-	NC_000011.10:g.125997255C>A	gnomAD
rs574338071	p.Pro774Leu	missense variant	-	NC_000011.10:g.125997248G>A	1000Genomes,ExAC,gnomAD
rs1314291903	p.Pro775Ser	missense variant	-	NC_000011.10:g.125997246G>A	gnomAD
rs189366163	p.Lys777Thr	missense variant	-	NC_000011.10:g.125997239T>G	1000Genomes,ExAC,gnomAD
rs1363794035	p.Leu778Phe	missense variant	-	NC_000011.10:g.125997237G>A	gnomAD
rs748797944	p.Ser779Leu	missense variant	-	NC_000011.10:g.125997233G>A	ExAC,gnomAD
rs201530015	p.Ser779Ala	missense variant	-	NC_000011.10:g.125997234A>C	TOPMed,gnomAD
rs1431664406	p.Val780Met	missense variant	-	NC_000011.10:g.125997231C>T	gnomAD
rs387906996	p.Val780Glu	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125997230A>T	UniProt,dbSNP
VAR_066500	p.Val780Glu	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125997230A>T	UniProt
rs387906996	p.Val780Glu	missense variant	Holoprosencephaly 11 (hpe11)	NC_000011.10:g.125997230A>T	-
RCV000023727	p.Val780Glu	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125997230A>T	ClinVar
rs1232131999	p.Glu781Gly	missense variant	-	NC_000011.10:g.125997227T>C	gnomAD
rs543829254	p.Glu781Asp	missense variant	-	NC_000011.10:g.125997226T>G	1000Genomes,ExAC,gnomAD
rs1182235163	p.Val782Ile	missense variant	-	NC_000011.10:g.125997225C>T	gnomAD
rs1182235163	p.Val782Ile	missense variant	-	NC_000011.10:g.125997225C>T	NCI-TCGA Cosmic
rs748459324	p.Arg783His	missense variant	-	NC_000011.10:g.125997221C>T	ExAC,TOPMed,gnomAD
rs756707042	p.Arg783Ser	missense variant	-	NC_000011.10:g.125997222G>T	ExAC,TOPMed,gnomAD
rs756707042	p.Arg783Cys	missense variant	-	NC_000011.10:g.125997222G>A	ExAC,TOPMed,gnomAD
rs756707042	p.Arg783Cys	missense variant	-	NC_000011.10:g.125997222G>A	NCI-TCGA
rs1385981974	p.Ser784Ile	missense variant	-	NC_000011.10:g.125997218C>A	gnomAD
rs1452965952	p.Ser784Arg	missense variant	-	NC_000011.10:g.125997217A>C	TOPMed
rs1266955578	p.Pro787Leu	missense variant	-	NC_000011.10:g.125997209G>A	gnomAD
rs1251809206	p.Gly788Asp	missense variant	-	NC_000011.10:g.125995052C>T	gnomAD
COSM924622	p.Gly788Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125997207C>A	NCI-TCGA Cosmic
rs387906997	p.Thr790Ala	missense variant	Holoprosencephaly 11 (hpe11)	NC_000011.10:g.125995047T>C	-
rs387906997	p.Thr790Ala	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125995047T>C	UniProt,dbSNP
VAR_066501	p.Thr790Ala	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125995047T>C	UniProt
RCV000023728	p.Thr790Ala	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125995047T>C	ClinVar
NCI-TCGA novel	p.Lys792Thr	missense variant	-	NC_000011.10:g.125995040T>G	NCI-TCGA
rs751416426	p.Arg794Thr	missense variant	-	NC_000011.10:g.125995034C>G	ExAC,gnomAD
rs148081735	p.Val795Ile	missense variant	-	NC_000011.10:g.125995032C>T	ESP,ExAC,TOPMed,gnomAD
RCV000267461	p.Ile798Val	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125995023T>C	ClinVar
rs142919781	p.Ile798Val	missense variant	-	NC_000011.10:g.125995023T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376660029	p.Tyr801His	missense variant	-	NC_000011.10:g.125995014A>G	ESP,ExAC,gnomAD
rs777130955	p.Tyr801Ter	stop gained	-	NC_000011.10:g.125995012A>C	ExAC,gnomAD
rs1264864868	p.Glu803Val	missense variant	-	NC_000011.10:g.125995007T>A	TOPMed
rs1204227048	p.Glu803Lys	missense variant	-	NC_000011.10:g.125995008C>T	TOPMed
rs769058132	p.Ser804Gly	missense variant	-	NC_000011.10:g.125995005T>C	ExAC,TOPMed,gnomAD
rs141611214	p.Arg806Trp	missense variant	-	NC_000011.10:g.125994999G>A	ESP,ExAC,TOPMed,gnomAD
rs141611214	p.Arg806Trp	missense variant	-	NC_000011.10:g.125994999G>A	NCI-TCGA,NCI-TCGA Cosmic
rs139263823	p.Arg806Gln	missense variant	-	NC_000011.10:g.125994998C>T	ESP,ExAC,TOPMed,gnomAD
rs772400268	p.Ser807Asn	missense variant	-	NC_000011.10:g.125994995C>T	ExAC,TOPMed,gnomAD
rs1428144415	p.Ser808Leu	missense variant	-	NC_000011.10:g.125994992G>A	gnomAD
rs1196247219	p.Ala809Val	missense variant	-	NC_000011.10:g.125994989G>A	TOPMed
rs746038393	p.Ser810Cys	missense variant	-	NC_000011.10:g.125994986G>C	ExAC
RCV000380663	p.Ser810Cys	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125994986G>C	ClinVar
rs201985321	p.Arg811Cys	missense variant	-	NC_000011.10:g.125994984G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs200008378	p.Arg811His	missense variant	-	NC_000011.10:g.125994983C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200008378	p.Arg811Leu	missense variant	-	NC_000011.10:g.125994983C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201985321	p.Arg811Cys	missense variant	-	NC_000011.10:g.125994984G>A	NCI-TCGA,NCI-TCGA Cosmic
rs781179839	p.Pro812Ser	missense variant	-	NC_000011.10:g.125994981G>A	ExAC,gnomAD
rs200964802	p.Gln814His	missense variant	-	NC_000011.10:g.125994973T>G	1000Genomes
rs1555120762	p.Gln814Arg	missense variant	-	NC_000011.10:g.125994974T>C	-
RCV000521038	p.Gln814Arg	missense variant	-	NC_000011.10:g.125994974T>C	ClinVar
rs754978385	p.Gln814Glu	missense variant	-	NC_000011.10:g.125994975G>C	ExAC,TOPMed,gnomAD
rs751328564	p.Gly817Glu	missense variant	-	NC_000011.10:g.125994965C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly817Val	missense variant	-	NC_000011.10:g.125994965C>A	NCI-TCGA
rs148568229	p.Phe818Leu	missense variant	-	NC_000011.10:g.125994963A>G	1000Genomes,ExAC,gnomAD
rs758213416	p.Pro819Ser	missense variant	-	NC_000011.10:g.125994960G>A	ExAC,gnomAD
rs750052531	p.Asn820Ser	missense variant	-	NC_000011.10:g.125994956T>C	ExAC,TOPMed,gnomAD
rs146660717	p.Arg821His	missense variant	-	NC_000011.10:g.125994953C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000326017	p.Arg821His	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125994953C>T	ClinVar
rs764804321	p.Arg821Gly	missense variant	-	NC_000011.10:g.125994954G>C	ExAC,gnomAD
rs899917482	p.Phe822Leu	missense variant	-	NC_000011.10:g.125994951A>G	TOPMed,gnomAD
rs776069698	p.Phe822Ser	missense variant	-	NC_000011.10:g.125994950A>G	ExAC,gnomAD
rs764628885	p.Ser823Ala	missense variant	-	NC_000011.10:g.125994948A>C	ExAC,gnomAD
rs761313325	p.Ser824Thr	missense variant	-	NC_000011.10:g.125994944C>G	ExAC,gnomAD
rs369829411	p.Arg825His	missense variant	-	NC_000011.10:g.125994941C>T	ExAC,TOPMed,gnomAD
rs1017033855	p.Arg825Cys	missense variant	-	NC_000011.10:g.125994942G>A	TOPMed
rs772521968	p.Ile827Val	missense variant	-	NC_000011.10:g.125994936T>C	ExAC,TOPMed,gnomAD
rs1326959746	p.Thr828Ser	missense variant	-	NC_000011.10:g.125994933T>A	TOPMed
NCI-TCGA novel	p.Gly829Ter	stop gained	-	NC_000011.10:g.125994930C>A	NCI-TCGA
rs1261115177	p.Pro830Ser	missense variant	-	NC_000011.10:g.125994927G>A	TOPMed
rs746235628	p.His831Tyr	missense variant	-	NC_000011.10:g.125994924G>A	ExAC,TOPMed,gnomAD
rs751093304	p.His831Arg	missense variant	-	NC_000011.10:g.125994923T>C	ExAC,TOPMed,gnomAD
rs1437685247	p.Ile832Met	missense variant	-	NC_000011.10:g.125994919A>C	TOPMed,gnomAD
rs1157738332	p.Ile832Val	missense variant	-	NC_000011.10:g.125994921T>C	TOPMed,gnomAD
rs1387000919	p.Ala833Val	missense variant	-	NC_000011.10:g.125994917G>A	gnomAD
rs749385605	p.Tyr834Cys	missense variant	-	NC_000011.10:g.125994914T>C	ExAC,gnomAD
rs777758697	p.Tyr834Ter	stop gained	-	NC_000011.10:g.125994913G>T	ExAC,TOPMed
rs754891752	p.Ala837Val	missense variant	-	NC_000011.10:g.125994905G>A	ExAC,gnomAD
rs1198900154	p.Val838Ile	missense variant	-	NC_000011.10:g.125994903C>T	gnomAD
rs369440912	p.Asp840Asn	missense variant	-	NC_000011.10:g.125994897C>T	ESP,ExAC,TOPMed,gnomAD
rs369440912	p.Asp840Asn	missense variant	-	NC_000011.10:g.125994897C>T	NCI-TCGA
rs1351655072	p.Thr841Asn	missense variant	-	NC_000011.10:g.125994893G>T	gnomAD
rs1247426233	p.Ile843Thr	missense variant	-	NC_000011.10:g.125994887A>G	gnomAD
rs1382423176	p.Met844Thr	missense variant	-	NC_000011.10:g.125994884A>G	TOPMed,gnomAD
rs756898823	p.Trp847Leu	missense variant	-	NC_000011.10:g.125994875C>A	ExAC,gnomAD
rs1383518501	p.Trp847Gly	missense variant	-	NC_000011.10:g.125994876A>C	gnomAD
rs753364775	p.Thr848Met	missense variant	-	NC_000011.10:g.125994872G>A	ExAC,TOPMed,gnomAD
rs753364775	p.Thr848Arg	missense variant	-	NC_000011.10:g.125994872G>C	ExAC,TOPMed,gnomAD
rs752311033	p.Tyr849Ser	missense variant	-	NC_000011.10:g.125994388T>G	ExAC,TOPMed,gnomAD
rs752311033	p.Tyr849Cys	missense variant	-	NC_000011.10:g.125994388T>C	ExAC,TOPMed,gnomAD
rs1288313367	p.Ile850Val	missense variant	-	NC_000011.10:g.125994386T>C	gnomAD
rs1198148809	p.Ile850Ser	missense variant	-	NC_000011.10:g.125994385A>C	gnomAD
NCI-TCGA novel	p.Pro851Ser	missense variant	-	NC_000011.10:g.125994383G>A	NCI-TCGA
COSM4019079	p.Asn854Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125994373T>A	NCI-TCGA Cosmic
rs1340478648	p.Asn855Ser	missense variant	-	NC_000011.10:g.125994370T>C	gnomAD
rs768131084	p.Asn856Ser	missense variant	-	NC_000011.10:g.125994367T>C	ExAC,TOPMed,gnomAD
COSM686487	p.Thr857Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125994364G>A	NCI-TCGA Cosmic
rs760005022	p.Ile859Thr	missense variant	-	NC_000011.10:g.125994358A>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe862Leu	missense variant	-	NC_000011.10:g.125994348A>C	NCI-TCGA
rs1347039743	p.Tyr863His	missense variant	-	NC_000011.10:g.125994347A>G	gnomAD
rs367731400	p.Tyr863Cys	missense variant	-	NC_000011.10:g.125994346T>C	ESP,ExAC,TOPMed,gnomAD
rs955974841	p.Tyr865Cys	missense variant	-	NC_000011.10:g.125994340T>C	gnomAD
rs766607815	p.Tyr865Ter	stop gained	-	NC_000011.10:g.125994339A>C	ExAC,gnomAD
rs763410611	p.Tyr866Asn	missense variant	-	NC_000011.10:g.125994338A>T	ExAC,gnomAD
rs773356583	p.Tyr866Ser	missense variant	-	NC_000011.10:g.125994337T>G	ExAC,gnomAD
rs374454562	p.Arg867Ter	stop gained	-	NC_000011.10:g.125994335G>A	ESP,ExAC,TOPMed
COSM3383301	p.Arg867Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125994334C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp870Asn	missense variant	-	NC_000011.10:g.125994326C>T	NCI-TCGA
NCI-TCGA novel	p.Asp870Tyr	missense variant	-	NC_000011.10:g.125994326C>A	NCI-TCGA
rs1168313371	p.Ser871Gly	missense variant	-	NC_000011.10:g.125994323T>C	gnomAD
rs772022299	p.Asn873Lys	missense variant	-	NC_000011.10:g.125994315A>T	ExAC,gnomAD
rs1431688439	p.Asn873Ser	missense variant	-	NC_000011.10:g.125994316T>C	TOPMed,gnomAD
rs745743030	p.Asp874Gly	missense variant	-	NC_000011.10:g.125994313T>C	ExAC,gnomAD
rs770564593	p.Ser875Asn	missense variant	-	NC_000011.10:g.125994310C>T	ExAC,TOPMed
rs115533243	p.Ser875Gly	missense variant	-	NC_000011.10:g.125994311T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM272483	p.Ser875ArgPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.125994309A>-	NCI-TCGA Cosmic
RCV000541610	p.Ser875Gly	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125994311T>C	ClinVar
rs777551303	p.Asp880Asn	missense variant	-	NC_000011.10:g.125994296C>T	ExAC,gnomAD
rs1403840602	p.Val882Ala	missense variant	-	NC_000011.10:g.125994289A>G	TOPMed
rs1237908924	p.Glu883Gln	missense variant	-	NC_000011.10:g.125994287C>G	gnomAD
NCI-TCGA novel	p.Glu883Ter	stop gained	-	NC_000011.10:g.125994287C>A	NCI-TCGA
COSM1200616	p.Ser885Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.125989756G>T	NCI-TCGA Cosmic
rs1383177646	p.Gln887Arg	missense variant	-	NC_000011.10:g.125989750T>C	gnomAD
rs781027083	p.Gln887Lys	missense variant	-	NC_000011.10:g.125989751G>T	ExAC,TOPMed,gnomAD
rs372929321	p.Trp888Ter	stop gained	-	NC_000011.10:g.125989747C>T	ESP,ExAC,TOPMed,gnomAD
rs1420346868	p.Thr898Ile	missense variant	-	NC_000011.10:g.125989717G>A	gnomAD
NCI-TCGA novel	p.Ser899Cys	missense variant	-	NC_000011.10:g.125989714G>C	NCI-TCGA
rs765534786	p.Asp901His	missense variant	-	NC_000011.10:g.125989709C>G	ExAC,gnomAD
rs757647711	p.Ile902Val	missense variant	-	NC_000011.10:g.125989706T>C	ExAC,gnomAD
rs753991840	p.Lys903Ter	stop gained	-	NC_000011.10:g.125989703T>A	ExAC,gnomAD
rs200446204	p.Phe907Ser	missense variant	-	NC_000011.10:g.125989690A>G	1000Genomes
rs764389726	p.Asn908Ser	missense variant	-	NC_000011.10:g.125989687T>C	ExAC,TOPMed,gnomAD
rs760653343	p.Glu909Lys	missense variant	-	NC_000011.10:g.125989685C>T	ExAC,gnomAD
COSM1297791	p.Glu909Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125989684T>G	NCI-TCGA Cosmic
rs775702968	p.Gly911Glu	missense variant	-	NC_000011.10:g.125989678C>T	ExAC,gnomAD
rs1283279067	p.Glu912Lys	missense variant	-	NC_000011.10:g.125989676C>T	gnomAD
rs570513038	p.Ser913Gly	missense variant	-	NC_000011.10:g.125989673T>C	1000Genomes,ExAC,gnomAD
rs1470087321	p.Ser916Asn	missense variant	-	NC_000011.10:g.125989663C>T	TOPMed
COSM924621	p.Met919Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125989653C>T	NCI-TCGA Cosmic
rs763031665	p.Cys921Arg	missense variant	-	NC_000011.10:g.125989649A>G	ExAC,TOPMed,gnomAD
rs769676286	p.Glu922Lys	missense variant	-	NC_000011.10:g.125989646C>T	ExAC,TOPMed,gnomAD
rs747965171	p.Lys924Glu	missense variant	-	NC_000011.10:g.125989640T>C	ExAC,TOPMed,gnomAD
rs773221507	p.Arg927Cys	missense variant	-	NC_000011.10:g.125984088G>A	ExAC,TOPMed,gnomAD
rs374048433	p.Arg927His	missense variant	-	NC_000011.10:g.125984087C>T	ESP,ExAC,TOPMed,gnomAD
rs773221507	p.Arg927Cys	missense variant	-	NC_000011.10:g.125984088G>A	NCI-TCGA,NCI-TCGA Cosmic
rs761687534	p.Pro929Ala	missense variant	-	NC_000011.10:g.125984082G>C	ExAC,gnomAD
rs1300177305	p.Pro929Leu	missense variant	-	NC_000011.10:g.125984081G>A	TOPMed
rs768164724	p.Ala931Val	missense variant	-	NC_000011.10:g.125984075G>A	ExAC,gnomAD
rs771502239	p.Pro935Ala	missense variant	-	NC_000011.10:g.125984064G>C	ExAC,gnomAD
rs886609844	p.Pro935Leu	missense variant	-	NC_000011.10:g.125984063G>A	TOPMed,gnomAD
rs771502239	p.Pro935Ser	missense variant	-	NC_000011.10:g.125984064G>A	ExAC,gnomAD
rs1275388799	p.Val936Ile	missense variant	-	NC_000011.10:g.125984061C>T	TOPMed
NCI-TCGA novel	p.Asp938Tyr	missense variant	-	NC_000011.10:g.125984055C>A	NCI-TCGA
rs745395683	p.Asp938Gly	missense variant	-	NC_000011.10:g.125984054T>C	ExAC,gnomAD
rs369673018	p.Ser940Arg	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125984049T>G	UniProt,dbSNP
VAR_066502	p.Ser940Arg	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125984049T>G	UniProt
rs369673018	p.Ser940Arg	missense variant	Holoprosencephaly 11 (hpe11)	NC_000011.10:g.125984049T>G	ESP,ExAC,TOPMed,gnomAD
RCV000023729	p.Ser940Arg	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125984049T>G	ClinVar
rs1221902416	p.Thr941Ser	missense variant	-	NC_000011.10:g.125984045G>C	TOPMed
COSM4019078	p.Thr941Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125984046T>C	NCI-TCGA Cosmic
rs771490194	p.Pro942His	missense variant	-	NC_000011.10:g.125984042G>T	ExAC,gnomAD
rs771490194	p.Pro942Leu	missense variant	-	NC_000011.10:g.125984042G>A	ExAC,gnomAD
rs1285041803	p.Pro943Ser	missense variant	-	NC_000011.10:g.125984040G>A	TOPMed
COSM1200619	p.Ser945Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125984033G>T	NCI-TCGA Cosmic
rs778246839	p.Leu946Ser	missense variant	-	NC_000011.10:g.125984030A>G	ExAC,gnomAD
rs761948945	p.Gly947Arg	missense variant	-	NC_000011.10:g.125984028C>G	TOPMed,gnomAD
COSM924619	p.Gly947Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125984027C>A	NCI-TCGA Cosmic
rs761948945	p.Gly947Arg	missense variant	-	NC_000011.10:g.125984028C>T	TOPMed,gnomAD
rs1446463345	p.Ser948Arg	missense variant	-	NC_000011.10:g.125984025T>G	gnomAD
rs752927316	p.Val952Gly	missense variant	-	NC_000011.10:g.125984012A>C	ExAC,gnomAD
rs756455658	p.Val952Leu	missense variant	-	NC_000011.10:g.125984013C>A	ExAC,TOPMed,gnomAD
rs756455658	p.Val952Met	missense variant	-	NC_000011.10:g.125984013C>T	ExAC,TOPMed,gnomAD
rs1198888749	p.Gly953Arg	missense variant	-	NC_000011.10:g.125984010C>T	TOPMed
rs781279453	p.Gly953Glu	missense variant	-	NC_000011.10:g.125984009C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro954LeuPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.125984008C>-	NCI-TCGA
rs765261916	p.Ala955Gly	missense variant	-	NC_000011.10:g.125984003G>C	ExAC,gnomAD
rs146728346	p.Ser957Gly	missense variant	-	NC_000011.10:g.125983998T>C	ESP,ExAC,TOPMed,gnomAD
rs1244762152	p.Ala959Ser	missense variant	-	NC_000011.10:g.125983992C>A	gnomAD
rs1483718896	p.Met964Ile	missense variant	-	NC_000011.10:g.125983975C>T	gnomAD
NCI-TCGA novel	p.Tyr966His	missense variant	-	NC_000011.10:g.125983971A>G	NCI-TCGA
rs1388796133	p.Val969Ala	missense variant	-	NC_000011.10:g.125983961A>G	TOPMed
rs775148940	p.Val969Ile	missense variant	-	NC_000011.10:g.125983962C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly974Asp	missense variant	-	NC_000011.10:g.125983946C>T	NCI-TCGA
rs113921147	p.Val975Leu	missense variant	-	NC_000011.10:g.125983944C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113921147	p.Val975Ile	missense variant	-	NC_000011.10:g.125983944C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113921147	p.Val975Ile	missense variant	-	NC_000011.10:g.125983944C>T	NCI-TCGA
RCV000649538	p.Val975Ile	missense variant	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125983944C>T	ClinVar
rs1401028459	p.Val975Ala	missense variant	-	NC_000011.10:g.125983943A>G	gnomAD
rs937053308	p.Met976Thr	missense variant	-	NC_000011.10:g.125983940A>G	TOPMed,gnomAD
rs771402208	p.Val977Ile	missense variant	-	NC_000011.10:g.125983938C>T	ExAC,gnomAD
rs749752333	p.Leu978Val	missense variant	-	NC_000011.10:g.125983935G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu978Phe	missense variant	-	NC_000011.10:g.125983935G>A	NCI-TCGA
NCI-TCGA novel	p.Leu978His	missense variant	-	NC_000011.10:g.125983934A>T	NCI-TCGA
rs1157915052	p.Ile979Val	missense variant	-	NC_000011.10:g.125983932T>C	gnomAD
rs1437754919	p.Met981Val	missense variant	-	NC_000011.10:g.125983926T>C	gnomAD
rs1386816918	p.Val982Ala	missense variant	-	NC_000011.10:g.125983922A>G	gnomAD
rs1423078383	p.Ile984Thr	missense variant	-	NC_000011.10:g.125983916A>G	gnomAD
rs778176823	p.Ile984Val	missense variant	-	NC_000011.10:g.125983917T>C	ExAC,gnomAD
rs748475660	p.Ala985Pro	missense variant	-	NC_000011.10:g.125983914C>G	ExAC,TOPMed,gnomAD
rs748475660	p.Ala985Thr	missense variant	-	NC_000011.10:g.125983914C>T	ExAC,TOPMed,gnomAD
rs1377373548	p.Ala985Val	missense variant	-	NC_000011.10:g.125983913G>A	TOPMed
RCV000779051	p.Cys987Ter	frameshift	Holoprosencephaly 11 (HPE11)	NC_000011.10:g.125983907dup	ClinVar
rs781552387	p.Asn991Ser	missense variant	-	NC_000011.10:g.125983895T>C	ExAC,gnomAD
rs1489303606	p.Arg992Cys	missense variant	-	NC_000011.10:g.125983893G>A	gnomAD
rs148664368	p.Arg992Leu	missense variant	-	NC_000011.10:g.125983892C>A	ESP,ExAC,gnomAD
rs148664368	p.Arg992His	missense variant	-	NC_000011.10:g.125983892C>T	ESP,ExAC,gnomAD
rs148664368	p.Arg992His	missense variant	-	NC_000011.10:g.125983892C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1489303606	p.Arg992Cys	missense variant	-	NC_000011.10:g.125983893G>A	NCI-TCGA
rs751661788	p.Gln993Arg	missense variant	-	NC_000011.10:g.125983889T>C	ExAC,TOPMed,gnomAD
rs953365509	p.Thr996Ile	missense variant	-	NC_000011.10:g.125983880G>A	gnomAD
rs780332543	p.Ile997Thr	missense variant	-	NC_000011.10:g.125983877A>G	ExAC,gnomAD
rs1289177976	p.Gln998Arg	missense variant	-	NC_000011.10:g.125983874T>C	TOPMed
rs1190573891	p.Gln998Glu	missense variant	-	NC_000011.10:g.125983875G>C	gnomAD
rs1388222481	p.Tyr1000Cys	missense variant	-	NC_000011.10:g.125981326T>C	gnomAD
NCI-TCGA novel	p.Asp1001Gly	missense variant	-	NC_000011.10:g.125981323T>C	NCI-TCGA
rs1169452825	p.Pro1002Ala	missense variant	-	NC_000011.10:g.125981321G>C	gnomAD
rs1030948897	p.Gly1004Arg	missense variant	-	NC_000011.10:g.125981315C>T	TOPMed
rs758442757	p.Gly1004Val	missense variant	-	NC_000011.10:g.125981314C>A	ExAC,TOPMed,gnomAD
rs745989935	p.Gln1008Lys	missense variant	-	NC_000011.10:g.125981303G>T	ExAC,gnomAD
rs1476875663	p.Gly1009Glu	missense variant	-	NC_000011.10:g.125981299C>T	TOPMed,gnomAD
COSM4019077	p.Gly1009Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000011.10:g.125981300C>A	NCI-TCGA Cosmic
rs756046417	p.Ser1010Thr	missense variant	-	NC_000011.10:g.125981297A>T	ExAC,TOPMed,gnomAD
rs752466092	p.Asp1011Gly	missense variant	-	NC_000011.10:g.125981293T>C	ExAC,gnomAD
rs684805	p.Asn1013Lys	missense variant	-	NC_000011.10:g.125981286G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1458524178	p.Gly1014Ala	missense variant	-	NC_000011.10:g.125981284C>G	gnomAD
rs371732066	p.Gly1014Arg	missense variant	-	NC_000011.10:g.125981285C>T	ESP,ExAC,TOPMed,gnomAD
RCV000310695	p.Gly1014Arg	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125981285C>T	ClinVar
rs765962994	p.Met1016Val	missense variant	-	NC_000011.10:g.125981279T>C	ExAC,TOPMed,gnomAD
rs1244591863	p.Thr1020Ala	missense variant	-	NC_000011.10:g.125981267T>C	TOPMed
rs1346428890	p.Thr1020Asn	missense variant	-	NC_000011.10:g.125981266G>T	gnomAD
rs762511903	p.Thr1021Ala	missense variant	-	NC_000011.10:g.125981264T>C	ExAC
rs762511903	p.Thr1021Pro	missense variant	-	NC_000011.10:g.125981264T>G	ExAC
RCV000274333	p.Thr1021Ala	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125981264T>C	ClinVar
rs772664863	p.Leu1022Val	missense variant	-	NC_000011.10:g.125981261G>C	ExAC,gnomAD
rs369581617	p.Ser1023Ter	stop gained	-	NC_000011.10:g.125981257G>C	ESP,ExAC,gnomAD
rs765748195	p.Ser1023Pro	missense variant	-	NC_000011.10:g.125981258A>G	ExAC,gnomAD
rs1333332207	p.Ser1026Asn	missense variant	-	NC_000011.10:g.125981248C>T	gnomAD
rs777302238	p.Val1032Ile	missense variant	-	NC_000011.10:g.125981231C>T	ExAC
rs1285173001	p.His1033Asp	missense variant	-	NC_000011.10:g.125981228G>C	TOPMed
rs199957528	p.Gly1034Arg	missense variant	-	NC_000011.10:g.125981225C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs772246581	p.Gly1034Ala	missense variant	-	NC_000011.10:g.125981224C>G	ExAC,gnomAD
rs199957528	p.Gly1034Arg	missense variant	-	NC_000011.10:g.125981225C>T	NCI-TCGA,NCI-TCGA Cosmic
rs199957528	p.Gly1034Arg	missense variant	-	NC_000011.10:g.125981225C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1296209887	p.Gly1035Asp	missense variant	-	NC_000011.10:g.125981221C>T	TOPMed,gnomAD
rs745925601	p.Phe1036Val	missense variant	-	NC_000011.10:g.125981219A>C	ExAC,gnomAD
rs748037394	p.Gly1041Ser	missense variant	-	NC_000011.10:g.125981204C>T	ExAC,TOPMed,gnomAD
rs748037394	p.Gly1041Ser	missense variant	-	NC_000011.10:g.125981204C>T	NCI-TCGA,NCI-TCGA Cosmic
rs376284528	p.Ser1043Arg	missense variant	-	NC_000011.10:g.125981198T>G	ExAC
rs376284528	p.Ser1043Cys	missense variant	-	NC_000011.10:g.125981198T>A	ExAC
rs374738066	p.Ser1044Gly	missense variant	-	NC_000011.10:g.125981195T>C	ESP,ExAC,TOPMed,gnomAD
rs751414543	p.Gly1045Ser	missense variant	-	NC_000011.10:g.125981192C>T	ExAC,TOPMed,gnomAD
rs761608208	p.Tyr1046Ser	missense variant	-	NC_000011.10:g.125981188T>G	TOPMed,gnomAD
rs761608208	p.Tyr1046Cys	missense variant	-	NC_000011.10:g.125981188T>C	TOPMed,gnomAD
rs938975946	p.His1048Gln	missense variant	-	NC_000011.10:g.125981181G>C	TOPMed
rs779753732	p.His1048Pro	missense variant	-	NC_000011.10:g.125981182T>G	ExAC,gnomAD
rs1431173219	p.His1050Gln	missense variant	-	NC_000011.10:g.125981175G>T	TOPMed
rs1443815141	p.His1051Asn	missense variant	-	NC_000011.10:g.125981174G>T	gnomAD
rs1278957368	p.His1051Gln	missense variant	-	NC_000011.10:g.125981172A>C	gnomAD
rs1374263592	p.Val1053Ile	missense variant	-	NC_000011.10:g.125981168C>T	TOPMed
rs749930010	p.Pro1054Leu	missense variant	-	NC_000011.10:g.125981164G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1054Ser	missense variant	-	NC_000011.10:g.125981165G>A	NCI-TCGA
rs564214	p.Asn1055Lys	missense variant	-	NC_000011.10:g.125981160A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149532977	p.Asn1055Ser	missense variant	-	NC_000011.10:g.125981161T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764752866	p.Ala1056Gly	missense variant	-	NC_000011.10:g.125981158G>C	ExAC,gnomAD
rs754336636	p.Ala1056Thr	missense variant	-	NC_000011.10:g.125981159C>T	ExAC,TOPMed,gnomAD
rs371410969	p.Asn1058Ser	missense variant	-	NC_000011.10:g.125981152T>C	ESP,ExAC,TOPMed,gnomAD
rs1361088072	p.Gly1059Arg	missense variant	-	NC_000011.10:g.125981150C>T	gnomAD
rs776033302	p.Ile1060Thr	missense variant	-	NC_000011.10:g.125981146A>G	ExAC,TOPMed,gnomAD
rs1176933751	p.Asn1062Thr	missense variant	-	NC_000011.10:g.125981140T>G	TOPMed,gnomAD
rs143111106	p.Ser1064Gly	missense variant	-	NC_000011.10:g.125981135T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113558382	p.Ser1064Asn	missense variant	-	NC_000011.10:g.125981134C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000314199	p.Ser1064Gly	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125981135T>C	ClinVar
rs113558382	p.Ser1064Thr	missense variant	-	NC_000011.10:g.125981134C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1258153065	p.Asn1066Asp	missense variant	-	NC_000011.10:g.125981129T>C	TOPMed
rs368584161	p.Gly1067Arg	missense variant	-	NC_000011.10:g.125981126C>T	ESP,ExAC,TOPMed,gnomAD
rs368584161	p.Gly1067Ter	stop gained	-	NC_000011.10:g.125981126C>A	ESP,ExAC,TOPMed,gnomAD
rs1356718011	p.Gly1068Glu	missense variant	-	NC_000011.10:g.125981122C>T	TOPMed,gnomAD
rs1177180374	p.Leu1069Pro	missense variant	-	NC_000011.10:g.125981119A>G	gnomAD
NCI-TCGA novel	p.Leu1069Arg	missense variant	-	NC_000011.10:g.125981119A>C	NCI-TCGA
rs887390814	p.Gly1072Arg	missense variant	-	NC_000011.10:g.125981111C>T	TOPMed
rs887390814	p.Gly1072Trp	missense variant	-	NC_000011.10:g.125981111C>A	TOPMed
rs1440142499	p.Ser1074Gly	missense variant	-	NC_000011.10:g.125981105T>C	gnomAD
rs779766563	p.Ser1074Asn	missense variant	-	NC_000011.10:g.125981104C>T	ExAC,gnomAD
rs1217198658	p.Asn1075Thr	missense variant	-	NC_000011.10:g.125981101T>G	gnomAD
rs758239580	p.Thr1080Ala	missense variant	-	NC_000011.10:g.125981087T>C	ExAC,TOPMed,gnomAD
rs1283860972	p.His1081Asn	missense variant	-	NC_000011.10:g.125981084G>T	gnomAD
rs532583611	p.His1081Arg	missense variant	-	NC_000011.10:g.125981083T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs756812421	p.His1081Gln	missense variant	-	NC_000011.10:g.125981082G>T	ExAC,TOPMed,gnomAD
rs756812421	p.His1081Gln	missense variant	-	NC_000011.10:g.125981082G>C	ExAC,TOPMed,gnomAD
rs753463208	p.Val1082Leu	missense variant	-	NC_000011.10:g.125981081C>A	ExAC,TOPMed,gnomAD
rs753463208	p.Val1082Met	missense variant	-	NC_000011.10:g.125981081C>T	ExAC,TOPMed,gnomAD
rs1353565667	p.Asp1083Gly	missense variant	-	NC_000011.10:g.125981077T>C	gnomAD
rs141970313	p.His1086Gln	missense variant	-	NC_000011.10:g.125981067A>T	ESP,ExAC,TOPMed,gnomAD
rs753268933	p.Pro1087Ala	missense variant	-	NC_000011.10:g.125981066G>C	ExAC,gnomAD
rs759948908	p.His1088Arg	missense variant	-	NC_000011.10:g.125981062T>C	ExAC,gnomAD
rs767733147	p.His1088Tyr	missense variant	-	NC_000011.10:g.125981063G>A	ExAC,gnomAD
rs767733147	p.His1088Tyr	missense variant	-	NC_000011.10:g.125981063G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM4841102	p.His1089Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125981060G>T	NCI-TCGA Cosmic
rs1415000535	p.Val1091Leu	missense variant	-	NC_000011.10:g.125981054C>G	gnomAD
rs1415000535	p.Val1091Met	missense variant	-	NC_000011.10:g.125981054C>T	gnomAD
rs1335755163	p.Gly1093Cys	missense variant	-	NC_000011.10:g.125978383C>A	TOPMed
rs761960156	p.Gly1093Val	missense variant	-	NC_000011.10:g.125978382C>A	ExAC,gnomAD
COSM3791306	p.Gly1093Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125978383C>T	NCI-TCGA Cosmic
rs775236931	p.Gly1094Val	missense variant	-	NC_000011.10:g.125978379C>A	ExAC,gnomAD
rs541277057	p.Met1096Val	missense variant	-	NC_000011.10:g.125978374T>C	1000Genomes,ExAC,TOPMed
rs1458978789	p.Tyr1097Phe	missense variant	-	NC_000011.10:g.125978370T>A	gnomAD
rs1260225651	p.Thr1098Met	missense variant	-	NC_000011.10:g.125978367G>A	gnomAD
NCI-TCGA novel	p.Thr1098Ser	missense variant	-	NC_000011.10:g.125978368T>A	NCI-TCGA
COSM294231	p.Ala1099Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125978365C>T	NCI-TCGA Cosmic
rs774247622	p.Ala1099Val	missense variant	-	NC_000011.10:g.125978364G>A	ExAC,gnomAD
rs1221390080	p.Val1100Met	missense variant	-	NC_000011.10:g.125978362C>T	TOPMed,gnomAD
rs1221390080	p.Val1100Met	missense variant	-	NC_000011.10:g.125978362C>T	NCI-TCGA
NCI-TCGA novel	p.Gln1102Glu	missense variant	-	NC_000011.10:g.125978356G>C	NCI-TCGA
NCI-TCGA novel	p.Ile1103Phe	missense variant	-	NC_000011.10:g.125978353T>A	NCI-TCGA
rs1293502005	p.Asp1104Asn	missense variant	-	NC_000011.10:g.125978350C>T	gnomAD
COSM3808724	p.Asp1104His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125978350C>G	NCI-TCGA Cosmic
rs555336512	p.Pro1105His	missense variant	-	NC_000011.10:g.125978346G>T	1000Genomes,ExAC,gnomAD
rs1439151255	p.Pro1105Ser	missense variant	-	NC_000011.10:g.125978347G>A	gnomAD
rs555336512	p.Pro1105Leu	missense variant	-	NC_000011.10:g.125978346G>A	1000Genomes,ExAC,gnomAD
rs1214543856	p.Glu1107Lys	missense variant	-	NC_000011.10:g.125978341C>T	TOPMed
rs1214543856	p.Glu1107Lys	missense variant	-	NC_000011.10:g.125978341C>T	NCI-TCGA
rs1222061027	p.Val1109Ala	missense variant	-	NC_000011.10:g.125978334A>G	TOPMed
rs541603575	p.Cys1111Tyr	missense variant	-	NC_000011.10:g.125978328C>T	1000Genomes,ExAC,gnomAD
rs1177628525	p.Arg1112Gln	missense variant	-	NC_000011.10:g.125978325C>T	TOPMed,gnomAD
rs1352215408	p.Arg1112Ter	stop gained	-	NC_000011.10:g.125978326G>A	gnomAD
rs1352215408	p.Arg1112Gly	missense variant	-	NC_000011.10:g.125978326G>C	gnomAD
rs1177628525	p.Arg1112Gln	missense variant	-	NC_000011.10:g.125978325C>T	NCI-TCGA Cosmic
rs762571384	p.Arg1115Leu	missense variant	-	NC_000011.10:g.125978316C>A	ExAC,TOPMed,gnomAD
rs747750419	p.Arg1115Ter	stop gained	-	NC_000011.10:g.125978317G>A	ExAC,TOPMed,gnomAD
rs762571384	p.Arg1115Gln	missense variant	-	NC_000011.10:g.125978316C>T	ExAC,TOPMed,gnomAD
rs762571384	p.Arg1115Leu	missense variant	-	NC_000011.10:g.125978316C>A	NCI-TCGA
rs1485564994	p.Asn1117Asp	missense variant	-	NC_000011.10:g.125978311T>C	TOPMed
NCI-TCGA novel	p.Asn1117Tyr	missense variant	-	NC_000011.10:g.125978311T>A	NCI-TCGA
rs1441258356	p.Asn1118Thr	missense variant	-	NC_000011.10:g.125978307T>G	gnomAD
rs755551243	p.Arg1119Thr	missense variant	-	NC_000011.10:g.125978304C>G	ExAC,gnomAD
rs755551243	p.Arg1119Lys	missense variant	-	NC_000011.10:g.125978304C>T	ExAC,gnomAD
rs780803621	p.Cys1120Gly	missense variant	-	NC_000011.10:g.125961997A>C	ExAC,gnomAD
rs564838080	p.Phe1121Ser	missense variant	-	NC_000011.10:g.125961993A>G	1000Genomes,ExAC,gnomAD
rs1396258041	p.Thr1122Ala	missense variant	-	NC_000011.10:g.125961991T>C	gnomAD
rs1310572868	p.Lys1123Glu	missense variant	-	NC_000011.10:g.125961988T>C	gnomAD
rs780548308	p.Asn1125Ser	missense variant	-	NC_000011.10:g.125961981T>C	ExAC,gnomAD
rs558907887	p.Thr1127Ala	missense variant	-	NC_000011.10:g.125961976T>C	1000Genomes,ExAC
rs1451344571	p.Phe1128Leu	missense variant	-	NC_000011.10:g.125961971G>C	gnomAD
rs779073494	p.Ser1129Arg	missense variant	-	NC_000011.10:g.125961968G>T	ExAC,gnomAD
rs757546563	p.Ser1131Asn	missense variant	-	NC_000011.10:g.125961963C>T	ExAC,gnomAD
rs754025360	p.Pro1132Arg	missense variant	-	NC_000011.10:g.125961960G>C	ExAC,TOPMed,gnomAD
rs754025360	p.Pro1132Leu	missense variant	-	NC_000011.10:g.125961960G>A	ExAC,TOPMed,gnomAD
RCV000513511	p.Pro1132Leu	missense variant	-	NC_000011.10:g.125961960G>A	ClinVar
rs764189518	p.Pro1133Ser	missense variant	-	NC_000011.10:g.125961958G>A	ExAC,gnomAD
rs1019684894	p.Pro1134Leu	missense variant	-	NC_000011.10:g.125961954G>A	TOPMed,gnomAD
rs1258827477	p.Val1135Glu	missense variant	-	NC_000011.10:g.125961951A>T	TOPMed,gnomAD
rs1264523920	p.Val1138Glu	missense variant	-	NC_000011.10:g.125961942A>T	gnomAD
rs1227574682	p.Val1139Leu	missense variant	-	NC_000011.10:g.125961940C>A	gnomAD
rs1205116063	p.Ala1140Gly	missense variant	-	NC_000011.10:g.125961936G>C	gnomAD
rs1267640402	p.Tyr1142Asn	missense variant	-	NC_000011.10:g.125961931A>T	gnomAD
rs1350208683	p.Gln1144Lys	missense variant	-	NC_000011.10:g.125961925G>T	TOPMed
rs573704535	p.Gly1146Asp	missense variant	-	NC_000011.10:g.125961918C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766480222	p.Gly1146Ser	missense variant	-	NC_000011.10:g.125961919C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1147Phe	missense variant	-	NC_000011.10:g.125961914C>A	NCI-TCGA
rs1486231190	p.Glu1148Val	missense variant	-	NC_000011.10:g.125961912T>A	TOPMed
NCI-TCGA novel	p.Pro1151Ser	missense variant	-	NC_000011.10:g.125961904G>A	NCI-TCGA
rs1291103020	p.Leu1152Phe	missense variant	-	NC_000011.10:g.125961901G>A	gnomAD
rs768149853	p.Val1155Met	missense variant	-	NC_000011.10:g.125961892C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val1155Leu	missense variant	-	NC_000011.10:g.125961892C>A	NCI-TCGA
rs768149853	p.Val1155Leu	missense variant	-	NC_000011.10:g.125961892C>G	ExAC,TOPMed,gnomAD
rs1293915017	p.Pro1158Ala	missense variant	-	NC_000011.10:g.125961883G>C	TOPMed,gnomAD
rs780528095	p.Pro1158Leu	missense variant	-	NC_000011.10:g.125961882G>A	ExAC,TOPMed,gnomAD
rs1293915017	p.Pro1158Ser	missense variant	-	NC_000011.10:g.125961883G>A	TOPMed,gnomAD
rs780737060	p.Val1159Leu	missense variant	-	NC_000011.10:g.125961880C>A	ExAC,TOPMed,gnomAD
rs780737060	p.Val1159Ile	missense variant	-	NC_000011.10:g.125961880C>T	ExAC,TOPMed,gnomAD
rs746206383	p.Cys1160Arg	missense variant	-	NC_000011.10:g.125961877A>G	ExAC,gnomAD
rs1377001536	p.Thr1162Asn	missense variant	-	NC_000011.10:g.125961870G>T	TOPMed
rs779284145	p.Ser1163Pro	missense variant	-	NC_000011.10:g.125961868A>G	ExAC,gnomAD
rs757589429	p.Ala1164Thr	missense variant	-	NC_000011.10:g.125961865C>T	ExAC,TOPMed,gnomAD
rs1270157464	p.Ala1164Glu	missense variant	-	NC_000011.10:g.125961864G>T	gnomAD
rs754024854	p.Val1165Ala	missense variant	-	NC_000011.10:g.125961861A>G	ExAC,gnomAD
rs1468373205	p.Pro1166Leu	missense variant	-	NC_000011.10:g.125961858G>A	gnomAD
rs777871279	p.Asp1167His	missense variant	-	NC_000011.10:g.125961856C>G	ExAC,gnomAD
rs1393122019	p.Cys1168Arg	missense variant	-	NC_000011.10:g.125961853A>G	TOPMed
NCI-TCGA novel	p.Gly1169Val	missense variant	-	NC_000011.10:g.125961849C>A	NCI-TCGA
NCI-TCGA novel	p.Gln1170Lys	missense variant	-	NC_000011.10:g.125961847G>T	NCI-TCGA
rs370469702	p.Pro1172Gln	missense variant	-	NC_000011.10:g.125961840G>T	ESP,ExAC,TOPMed,gnomAD
rs370469702	p.Pro1172Leu	missense variant	-	NC_000011.10:g.125961840G>A	ESP,ExAC,TOPMed,gnomAD
rs750407890	p.Glu1174Asp	missense variant	-	NC_000011.10:g.125961833C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1174Gly	missense variant	-	NC_000011.10:g.125961834T>C	NCI-TCGA
rs1332731475	p.Ser1175Thr	missense variant	-	NC_000011.10:g.125961831C>G	gnomAD
rs1332731475	p.Ser1175Asn	missense variant	-	NC_000011.10:g.125961831C>T	gnomAD
rs765042657	p.Ser1175Gly	missense variant	-	NC_000011.10:g.125961832T>C	ExAC,TOPMed,gnomAD
rs78304400	p.Val1176Ile	missense variant	-	NC_000011.10:g.125961829C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000391505	p.Val1176Ile	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125961829C>T	ClinVar
rs1392093536	p.Asn1179Ser	missense variant	-	NC_000011.10:g.125961819T>C	gnomAD
rs760177298	p.Val1183Gly	missense variant	-	NC_000011.10:g.125961807A>C	ExAC,gnomAD
rs760177298	p.Val1183Ala	missense variant	-	NC_000011.10:g.125961807A>G	ExAC,gnomAD
rs370597894	p.Pro1184Leu	missense variant	-	NC_000011.10:g.125961804G>A	1000Genomes,ExAC,gnomAD
rs150174788	p.Arg1187Cys	missense variant	-	NC_000011.10:g.125961796G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000284116	p.Arg1187Cys	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125961796G>A	ClinVar
RCV000249282	p.Arg1187Cys	missense variant	-	NC_000011.10:g.125961796G>A	ClinVar
rs771268293	p.Arg1187His	missense variant	-	NC_000011.10:g.125961795C>T	ExAC,TOPMed,gnomAD
rs140231214	p.Cys1189Phe	missense variant	-	NC_000011.10:g.125961789C>A	ExAC,gnomAD
rs1251524602	p.Cys1190Trp	missense variant	-	NC_000011.10:g.125961785A>C	gnomAD
rs181749265	p.Asp1192Asn	missense variant	-	NC_000011.10:g.125961781C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1346590838	p.Asp1196Val	missense variant	-	NC_000011.10:g.125961768T>A	gnomAD
rs1193538979	p.Asp1196Asn	missense variant	-	NC_000011.10:g.125961769C>T	gnomAD
rs911339564	p.Val1197Ile	missense variant	-	NC_000011.10:g.125961766C>T	gnomAD
rs755140892	p.Ser1198Asn	missense variant	-	NC_000011.10:g.125961762C>T	ExAC,gnomAD
rs1435043236	p.Ser1198Arg	missense variant	-	NC_000011.10:g.125961763T>G	TOPMed
rs757066021	p.Asp1200Gly	missense variant	-	NC_000011.10:g.125961756T>C	ExAC,gnomAD
rs765103665	p.Asp1200His	missense variant	-	NC_000011.10:g.125961757C>G	ExAC,TOPMed,gnomAD
rs200042535	p.Gly1201Asp	missense variant	-	NC_000011.10:g.125961753C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1344581842	p.Ser1202Ter	stop gained	-	NC_000011.10:g.125961750G>C	TOPMed,gnomAD
rs1344581842	p.Ser1202Leu	missense variant	-	NC_000011.10:g.125961750G>A	TOPMed,gnomAD
rs1434673745	p.Glu1203Ala	missense variant	-	NC_000011.10:g.125961747T>G	gnomAD
rs775150291	p.Pro1205Leu	missense variant	-	NC_000011.10:g.125961741G>A	ExAC,TOPMed,gnomAD
rs775150291	p.Pro1205Gln	missense variant	-	NC_000011.10:g.125961741G>T	ExAC,TOPMed,gnomAD
rs1440736815	p.Glu1207Ter	stop gained	-	NC_000011.10:g.125961736C>A	gnomAD
rs1305815122	p.Ser1209Gly	missense variant	-	NC_000011.10:g.125961730T>C	TOPMed
rs189386496	p.Gly1214Ser	missense variant	-	NC_000011.10:g.125961715C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771408542	p.Gly1214Asp	missense variant	-	NC_000011.10:g.125961714C>T	ExAC,gnomAD
rs189386496	p.Gly1214Cys	missense variant	-	NC_000011.10:g.125961715C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1235677319	p.Met1215Val	missense variant	-	NC_000011.10:g.125961712T>C	gnomAD
NCI-TCGA novel	p.Leu1218Val	missense variant	-	NC_000011.10:g.125961703G>C	NCI-TCGA
rs1324830619	p.Pro1221Ser	missense variant	-	NC_000011.10:g.125961694G>A	gnomAD
rs370358962	p.Asp1222Gly	missense variant	-	NC_000011.10:g.125961690T>C	ESP,ExAC,TOPMed,gnomAD
rs1288126368	p.His1223Asp	missense variant	-	NC_000011.10:g.125961688G>C	TOPMed,gnomAD
rs773498907	p.His1223Arg	missense variant	-	NC_000011.10:g.125961687T>C	ExAC,gnomAD
rs1288126368	p.His1223Tyr	missense variant	-	NC_000011.10:g.125961688G>A	TOPMed,gnomAD
rs748343127	p.Gln1225His	missense variant	-	NC_000011.10:g.125961680C>A	ExAC
rs377706219	p.Gln1225Leu	missense variant	-	NC_000011.10:g.125961681T>A	ESP,ExAC,TOPMed,gnomAD
rs374493187	p.Ala1227Thr	missense variant	-	NC_000011.10:g.125961676C>T	ESP,ExAC,TOPMed,gnomAD
rs1251276521	p.Ala1227Val	missense variant	-	NC_000011.10:g.125961675G>A	TOPMed
rs755054936	p.Cys1230Tyr	missense variant	-	NC_000011.10:g.125961666C>T	ExAC,TOPMed,gnomAD
rs747118426	p.Trp1232Ter	stop gained	-	NC_000011.10:g.125961660C>T	ExAC,gnomAD
rs1374139666	p.Glu1233Asp	missense variant	-	NC_000011.10:g.125961656T>G	gnomAD
rs1163838504	p.Ser1236Asn	missense variant	-	NC_000011.10:g.125961099C>T	gnomAD
rs752553745	p.Cys1237Arg	missense variant	-	NC_000011.10:g.125961097A>G	ExAC,gnomAD
rs1425158132	p.Cys1237Tyr	missense variant	-	NC_000011.10:g.125961096C>T	gnomAD
rs780791664	p.Ala1238Val	missense variant	-	NC_000011.10:g.125961093G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu1241Ter	stop gained	-	NC_000011.10:g.125961085C>A	NCI-TCGA
NCI-TCGA novel	p.Glu1241Lys	missense variant	-	NC_000011.10:g.125961085C>T	NCI-TCGA
NCI-TCGA novel	p.Glu1243Asp	missense variant	-	NC_000011.10:g.125961077C>A	NCI-TCGA
RCV000287810	p.Ile1244Asn	missense variant	Holoprosencephaly sequence (HPE)	NC_000011.10:g.125961075A>T	ClinVar
rs684535	p.Ile1244Asn	missense variant	-	NC_000011.10:g.125961075A>T	1000Genomes,ESP,TOPMed,gnomAD
RCV000254270	p.Ile1244Asn	missense variant	-	NC_000011.10:g.125961075A>T	ClinVar
rs747417428	p.Asn1245Asp	missense variant	-	NC_000011.10:g.125961073T>C	TOPMed,gnomAD
rs988692637	p.Ile1246Leu	missense variant	-	NC_000011.10:g.125961070T>G	TOPMed,gnomAD
rs1218006905	p.Val1247Leu	missense variant	-	NC_000011.10:g.125961067C>A	TOPMed
rs376724826	p.Ser1248Asn	missense variant	-	NC_000011.10:g.125961063C>T	ESP,ExAC,TOPMed,gnomAD
rs376724826	p.Ser1248Ile	missense variant	-	NC_000011.10:g.125961063C>A	ESP,ExAC,TOPMed,gnomAD
rs765767255	p.Trp1249Ter	stop gained	-	NC_000011.10:g.125961060C>T	ExAC,TOPMed,gnomAD
rs1215293051	p.Trp1249Ter	stop gained	-	NC_000011.10:g.125961059C>T	gnomAD
rs1019421597	p.Asn1250Thr	missense variant	-	NC_000011.10:g.125961057T>G	TOPMed
rs1019421597	p.Asn1250Ile	missense variant	-	NC_000011.10:g.125961057T>A	TOPMed
rs762531926	p.Leu1252Val	missense variant	-	NC_000011.10:g.125961052G>C	ExAC,TOPMed,gnomAD
rs762531926	p.Leu1252Phe	missense variant	-	NC_000011.10:g.125961052G>A	ExAC,TOPMed,gnomAD
rs750904257	p.Ile1253Ser	missense variant	-	NC_000011.10:g.125961048A>C	ExAC,TOPMed,gnomAD
rs750904257	p.Ile1253Asn	missense variant	-	NC_000011.10:g.125961048A>T	ExAC,TOPMed,gnomAD
rs1249739288	p.Ile1253Val	missense variant	-	NC_000011.10:g.125961049T>C	gnomAD
rs1401785502	p.Val1257Ile	missense variant	-	NC_000011.10:g.125961037C>T	gnomAD
rs373765094	p.Glu1259Ter	stop gained	-	NC_000011.10:g.125961031C>A	ESP,TOPMed,gnomAD
rs373765094	p.Glu1259Lys	missense variant	-	NC_000011.10:g.125961031C>T	ESP,TOPMed,gnomAD
rs777179648	p.Gly1260Val	missense variant	-	NC_000011.10:g.125961027C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys1261TrpPheSerTerUnkUnk	frameshift	-	NC_000011.10:g.125961023A>-	NCI-TCGA
rs369231909	p.Cys1261Arg	missense variant	-	NC_000011.10:g.125961025A>G	ESP,ExAC,TOPMed,gnomAD
rs375020165	p.Cys1261Tyr	missense variant	-	NC_000011.10:g.125961024C>T	ESP,ExAC,TOPMed
rs1279061888	p.Lys1264Asn	missense variant	-	NC_000011.10:g.125961014C>A	TOPMed,gnomAD
rs775781002	p.Lys1264Glu	missense variant	-	NC_000011.10:g.125961016T>C	ExAC,gnomAD
rs1252153612	p.Met1266Leu	missense variant	-	NC_000011.10:g.125961010T>G	TOPMed,gnomAD
rs1252153612	p.Met1266Val	missense variant	-	NC_000011.10:g.125961010T>C	TOPMed,gnomAD
rs1193196080	p.Trp1267Leu	missense variant	-	NC_000011.10:g.125961006C>A	gnomAD
rs1467326139	p.Trp1267Cys	missense variant	-	NC_000011.10:g.125961005C>A	gnomAD
rs1260282722	p.Ser1268Phe	missense variant	-	NC_000011.10:g.125961003G>A	gnomAD
rs777682588	p.Pro1269Ser	missense variant	-	NC_000011.10:g.125961001G>A	ExAC,gnomAD
rs777682588	p.Pro1269Thr	missense variant	-	NC_000011.10:g.125961001G>T	ExAC,gnomAD
rs1399298607	p.Gly1271Asp	missense variant	-	NC_000011.10:g.125960994C>T	TOPMed
rs995457648	p.Asp1275Gly	missense variant	-	NC_000011.10:g.125960982T>C	TOPMed,gnomAD
rs150974313	p.Asp1275His	missense variant	-	NC_000011.10:g.125960983C>G	ESP,ExAC,TOPMed,gnomAD
rs780916211	p.Ser1276Gly	missense variant	-	NC_000011.10:g.125960980T>C	ExAC,gnomAD
COSM1321807	p.Ser1276Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125960978G>T	NCI-TCGA Cosmic
rs199762166	p.Pro1277Leu	missense variant	-	NC_000011.10:g.125960976G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1378612877	p.Thr1278Ile	missense variant	-	NC_000011.10:g.125960973G>A	TOPMed,gnomAD
rs779772219	p.Gln1282His	missense variant	-	NC_000011.10:g.125960960C>A	ExAC,gnomAD
rs1461029725	p.Gln1282Leu	missense variant	-	NC_000011.10:g.125960961T>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln1283Leu	missense variant	-	NC_000011.10:g.125960958T>A	NCI-TCGA
rs1435296298	p.Pro1284Leu	missense variant	-	NC_000011.10:g.125960955G>A	TOPMed,gnomAD
rs1475867230	p.Arg1285Gln	missense variant	-	NC_000011.10:g.125960952C>T	TOPMed
rs189599953	p.Arg1285Trp	missense variant	-	NC_000011.10:g.125960953G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3445003	p.Thr1287Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000011.10:g.125960947T>C	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004610	Bacteremia	disease	BEFREE
C0015300	Exophthalmos	disease	HPO
C0020615	Hypoglycemia	disease	HPO
C0020676	Hypothyroidism	disease	HPO
C0022521	Kartagener Syndrome	disease	BEFREE
C0034012	Delayed Puberty	phenotype	HPO
C0037221	Situs Inversus	disease	BEFREE
C0079541	Holoprosencephaly	disease	BEFREE;GENOMICS_ENGLAND;HPO;LHGDN
C0175754	Agenesis of corpus callosum	disease	HPO
C0231246	Failure to gain weight	phenotype	HPO
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0266435	Congenital hypoplasia of penis	disease	HPO
C0349588	Short stature	phenotype	HPO
C0424688	Small head	phenotype	HPO
C0424711	Orbital separation diminished	phenotype	HPO
C0431362	Lobar Holoprosencephaly	disease	ORPHANET
C0431363	Alobar Holoprosencephaly	disease	ORPHANET
C0431447	Synophrys	disease	HPO
C0557874	Global developmental delay	disease	HPO
C0751617	Semilobar Holoprosencephaly	disease	ORPHANET
C1837760	Prominent eyes	phenotype	HPO
C1848490	Protruding eyes	phenotype	HPO
C1853487	Thick eyebrow	phenotype	HPO
C1856659	Polysplenia	disease	HPO
C1862425	Prominent globes	phenotype	HPO
C1864897	Cognitive delay	phenotype	HPO
C2315100	Pediatric failure to thrive	disease	HPO
C2981150	Uranostaphyloschisis	disease	HPO
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3279571	Ectopic posterior pituitary	phenotype	HPO
C3280215	HOLOPROSENCEPHALY 11	disease	CLINVAR;CTD_human;MGD;UNIPROT
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4020875	Mental and motor retardation	phenotype	HPO
C4021085	Abnormality of brain morphology	phenotype	CLINVAR
C4053775	Pituitary stalk interruption syndrome	disease	BEFREE;ORPHANET
C4321245	Cleft lip or lips	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001708	cell fate specification	IEA
GO:0002088	lens development in camera-type eye	IEA
GO:0007155	cell adhesion	TAS
GO:0007224	smoothened signaling pathway	IEA
GO:0007520	myoblast fusion	IEA
GO:0009952	anterior/posterior pattern specification	IEA
GO:0010172	embryonic body morphogenesis	IEA
GO:0014816	skeletal muscle satellite cell differentiation	IEA
GO:0021987	cerebral cortex development	IEA
GO:0043393	regulation of protein binding	IEA
GO:0043410	positive regulation of MAPK cascade	IEA
GO:0045663	positive regulation of myoblast differentiation	IEA
GO:0045666	positive regulation of neuron differentiation	IEA
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA
GO:0048643	positive regulation of skeletal muscle tissue development	IEA
GO:0051057	positive regulation of small GTPase mediated signal transduction	IEA
GO:0051149	positive regulation of muscle cell differentiation	TAS
GO:0060059	embryonic retina morphogenesis in camera-type eye	IEA
GO:2000179	positive regulation of neural precursor cell proliferation	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	IEA
GO:0062023	collagen-containing extracellular matrix	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	IEA
R-HSA-1266738	Developmental Biology	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-525793	Myogenesis	IEA
R-HSA-525793	Myogenesis	TAS
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5632681	Ligand-receptor interactions	TAS
R-HSA-5632684	Hedgehog 'on' state	TAS
R-HSA-5635838	Activation of SMO	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of CDON mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of CDON mRNA	28628672
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 CDON mRNA	28628672
C051246	1-methylanthracene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of CDON mRNA	28329830
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of CDON mRNA	19933214
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CDON mRNA	25510870
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in increased expression of CDON mRNA	27291303
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CDON mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CDON mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CDON mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CDON mRNA	25510870
C023035	3,4,5,3',4'-pentachlorobiphenyl	3,4,5,3',4'-pentachlorobiphenyl results in decreased expression of CDON mRNA	23196670
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in increased expression of CDON mRNA	27567155
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
D015124	8-Bromo Cyclic Adenosine Monophosphate	8-Bromo Cyclic Adenosine Monophosphate results in increased expression of CDON mRNA	20147733
C496492	abrine	abrine results in decreased expression of CDON mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of CDON gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of CDON intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of CDON intron	30157460
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of CDON mRNA	16483693
D000661	Amphetamine	Amphetamine results in decreased expression of CDON mRNA	30779732
C102351	apicidin	apicidin inhibits the reaction [Dexamethasone results in decreased expression of CDON mRNA]	27645313
C102351	apicidin	apicidin results in increased expression of CDON mRNA	27645313
D001280	Atrazine	Atrazine results in decreased expression of CDON mRNA	25929836
C012765	bakuchiol	bakuchiol inhibits the reaction [CDON mutant form results in decreased expression of MYOD1 protein]	26902638
C012765	bakuchiol	bakuchiol inhibits the reaction [CDON mutant form results in decreased expression of MYOG protein]	26902638
C012765	bakuchiol	bakuchiol results in increased expression of CDON protein	26902638
C012765	bakuchiol	SB 203580 inhibits the reaction [bakuchiol results in increased expression of CDON protein]	26902638
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of CDON mRNA	22228805
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of CDON intron	30157460
C006780	bisphenol A	bisphenol A results in increased methylation of CDON exon	30906313
C006780	bisphenol A	bisphenol A results in increased methylation of CDON intron	30906313
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of CDON mRNA	28628672
C006780	bisphenol A	bisphenol A affects the expression of CDON mRNA	21786754
C006780	bisphenol A	bisphenol A affects the expression of CDON mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of CDON gene	28505145
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of CDON mRNA	28628672
D002220	Carbamazepine	Carbamazepine affects the expression of CDON mRNA	25979313
D003300	Copper	[ATP7A gene mutant form results in increased abundance of Copper] which results in increased expression of CDON mRNA	15467011
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of CDON mRNA	23640034
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of CDON mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of CDON mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of CDON mRNA	28628672
D003907	Dexamethasone	apicidin inhibits the reaction [Dexamethasone results in decreased expression of CDON mRNA]	27645313
D003907	Dexamethasone	Dexamethasone results in decreased expression of CDON mRNA	22733784; 27645313;
D003907	Dexamethasone	[HDAC1 protein co-treated with HDAC2 protein] affects the reaction [Dexamethasone results in decreased expression of CDON mRNA]	27645313
D003907	Dexamethasone	HDAC3 protein affects the reaction [Dexamethasone results in decreased expression of CDON mRNA]	27645313
D003907	Dexamethasone	Valproic Acid inhibits the reaction [Dexamethasone results in decreased expression of CDON mRNA]	27645313
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of CDON mRNA	31163220
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of CDON mRNA	29803840
D004726	Endosulfan	Endosulfan results in decreased expression of CDON mRNA	29391264
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of CDON mRNA	22079256
D004958	Estradiol	Estradiol affects the expression of CDON mRNA	14699072
D000431	Ethanol	CDON gene mutant form results in increased susceptibility to Ethanol	24244464
D000431	Ethanol	PTCH1 gene affects the reaction [CDON gene mutant form results in increased susceptibility to Ethanol]	24244464
D017313	Fenretinide	Fenretinide results in increased expression of CDON mRNA	28973697
D005419	Flavonoids	Flavonoids results in increased expression of CDON mRNA	18035473
C007738	fluoranthene	[1-methylanthracene co-treated with fluoranthene] results in decreased expression of CDON mRNA	28329830
C007738	fluoranthene	fluoranthene results in decreased expression of CDON mRNA	28329830
C069837	fullerene C60	fullerene C60 results in decreased expression of CDON mRNA	19167457
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of CDON mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of CDON mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin] results in increased expression of CDON mRNA	28628672
D000077146	Irinotecan	Irinotecan analog results in decreased expression of CDON mRNA	18927307
C544151	jinfukang	jinfukang results in increased expression of CDON mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of CDON mRNA	24796395
C008261	lead acetate	lead acetate results in increased expression of CDON mRNA	22609695
D000077339	Leflunomide	Leflunomide results in increased expression of CDON mRNA	28988120
D008701	Methapyrilene	Methapyrilene results in increased methylation of CDON intron	30157460
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of CDON mRNA	26011545
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of CDON mRNA	25554681
D009532	Nickel	Nickel results in decreased expression of CDON mRNA	24768652
D009532	Nickel	Nickel results in decreased expression of CDON mRNA	24084258
C028007	nickel monoxide	nickel monoxide results in decreased expression of CDON mRNA	19167457
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of CDON mRNA	26272509
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in decreased expression of CDON mRNA	25510870
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of CDON mRNA	26272509
D059808	Polyphenols	Polyphenols results in decreased expression of CDON mRNA	16293270
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of CDON mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of CDON mRNA	22079256
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of CDON mRNA	27029645
C502851	quinocetone	quinocetone results in increased expression of CDON mRNA	27046791
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of CDON mRNA	14699072
C093642	SB 203580	SB 203580 inhibits the reaction [bakuchiol results in increased expression of CDON protein]	26902638
D012834	Silver	Silver results in decreased expression of CDON mRNA	27131904
D018030	Silver Compounds	Silver Compounds results in increased expression of CDON mRNA	29703973
D053260	Soot	Soot results in decreased expression of CDON mRNA	26551751
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of CDON mRNA	31299295
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of CDON mRNA	19933214
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of CDON mRNA	28065790
D014212	Tretinoin	Tretinoin results in decreased expression of CDON mRNA	21934132
D014241	Trichloroethylene	Trichloroethylene results in increased methylation of CDON gene	27618143
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
C012589	trichostatin A	trichostatin A affects the expression of CDON mRNA	28542535
C012589	trichostatin A	trichostatin A results in increased expression of CDON mRNA	24935251; 26272509;
D014260	Triclosan	Triclosan results in increased expression of CDON mRNA	30510588
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of CDON mRNA	26179874
D014520	Urethane	Urethane results in increased expression of CDON 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 CDON mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of CDON mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of CDON gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of CDON mRNA	19101580; 23179753; 24383497; 24935251; 26272509; 27188386;
D014635	Valproic Acid	Valproic Acid affects the expression of CDON mRNA	17292431
D014635	Valproic Acid	Valproic Acid inhibits the reaction [Dexamethasone results in decreased expression of CDON mRNA]	27645313
D014635	Valproic Acid	Valproic Acid results in increased expression of CDON mRNA	27645313
D014638	Vanadates	Vanadates results in decreased expression of CDON mRNA	22714537
D001335	Vehicle Emissions	Vehicle Emissions affects the methylation of CDON gene	25560391
C025643	vinclozolin	vinclozolin affects the expression of CDON mRNA	23034163
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of CDON mRNA	27188386
D000077337	Vorinostat	Vorinostat results in increased expression of CDON mRNA	26272509
D019287	Zinc Sulfate	Zinc Sulfate results in decreased expression of CDON mRNA	27215404

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0370	Holoprosencephaly
KW-0393	Immunoglobulin domain
KW-0472	Membrane
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
IPR032983	CDO
IPR003961	FN3_dom
IPR036116	FN3_sf
IPR007110	Ig-like_dom
IPR036179	Ig-like_dom_sf
IPR013783	Ig-like_fold
IPR013098	Ig_I-set
IPR003599	Ig_sub
IPR003598	Ig_sub2

PROSITE

PROSITE ID	PROSITE Term
PS50853	FN3
PS50835	IG_LIKE

Pfam

Pfam ID	Pfam Term
PF00041	fn3
PF07679	I-set

Gene: CDON

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction