CleftGeneDB-Search

Gene: PTCH1

Basic information

Tag	Content
Uniprot ID	Q13635; A3KBI9; E9PEJ8; Q13463; Q5R1U7; Q5R1U9; Q5R1V0; Q5VZC0; Q5VZC2; Q86XG7;
Entrez ID	5727
Genbank protein ID	BAD74185.1; BAD74186.1; BAD74188.1; BAD74184.1; AAH43542.1; BAF47712.1; AAC50496.1; BAD74187.1; AAC50550.1;
Genbank nucleotide ID	NM_001083605.1; NM_001083607.1; NM_001083602.1; NM_000264.3; NM_001083603.1; NM_001083604.1; NM_001083606.1;
Ensembl protein ID	ENSP00000332353; ENSP00000364423; ENSP00000389744; ENSP00000399981; ENSP00000414823; ENSP00000410287; ENSP00000396135;
Ensembl nucleotide ID	ENSG00000185920
Gene name	Protein patched homolog 1
Gene symbol	PTCH1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	28232668
Functional description	Acts as a receptor for sonic hedgehog (SHH), indian hedgehog (IHH) and desert hedgehog (DHH). Associates with the smoothened protein (SMO) to transduce the hedgehog's proteins signal. Seems to have a tumor suppressor function, as inactivation of this protein is probably a necessary, if not sufficient step for tumorigenesis.
Sequence	MASAGNAAEP QDRGGGGSGC IGAPGRPAGG GRRRRTGGLR RAAAPDRDYL HRPSYCDAAF 60 ALEQISKGKA TGRKAPLWLR AKFQRLLFKL GCYIQKNCGK FLVVGLLIFG AFAVGLKAAN 120 LETNVEELWV EVGGRVSREL NYTRQKIGEE AMFNPQLMIQ TPKEEGANVL TTEALLQHLD 180 SALQASRVHV YMYNRQWKLE HLCYKSGELI TETGYMDQII EYLYPCLIIT PLDCFWEGAK 240 LQSGTAYLLG KPPLRWTNFD PLEFLEELKK INYQVDSWEE MLNKAEVGHG YMDRPCLNPA 300 DPDCPATAPN KNSTKPLDMA LVLNGGCHGL SRKYMHWQEE LIVGGTVKNS TGKLVSAHAL 360 QTMFQLMTPK QMYEHFKGYE YVSHINWNED KAAAILEAWQ RTYVEVVHQS VAQNSTQKVL 420 SFTTTTLDDI LKSFSDVSVI RVASGYLLML AYACLTMLRW DCSKSQGAVG LAGVLLVALS 480 VAAGLGLCSL IGISFNAATT QVLPFLALGV GVDDVFLLAH AFSETGQNKR IPFEDRTGEC 540 LKRTGASVAL TSISNVTAFF MAALIPIPAL RAFSLQAAVV VVFNFAMVLL IFPAILSMDL 600 YRREDRRLDI FCCFTSPCVS RVIQVEPQAY TDTHDNTRYS PPPPYSSHSF AHETQITMQS 660 TVQLRTEYDP HTHVYYTTAE PRSEISVQPV TVTQDTLSCQ SPESTSSTRD LLSQFSDSSL 720 HCLEPPCTKW TLSSFAEKHY APFLLKPKAK VVVIFLFLGL LGVSLYGTTR VRDGLDLTDI 780 VPRETREYDF IAAQFKYFSF YNMYIVTQKA DYPNIQHLLY DLHRSFSNVK YVMLEENKQL 840 PKMWLHYFRD WLQGLQDAFD SDWETGKIMP NNYKNGSDDG VLAYKLLVQT GSRDKPIDIS 900 QLTKQRLVDA DGIINPSAFY IYLTAWVSND PVAYAASQAN IRPHRPEWVH DKADYMPETR 960 LRIPAAEPIE YAQFPFYLNG LRDTSDFVEA IEKVRTICSN YTSLGLSSYP NGYPFLFWEQ 1020 YIGLRHWLLL FISVVLACTF LVCAVFLLNP WTAGIIVMVL ALMTVELFGM MGLIGIKLSA 1080 VPVVILIASV GIGVEFTVHV ALAFLTAIGD KNRRAVLALE HMFAPVLDGA VSTLLGVLML 1140 AGSEFDFIVR YFFAVLAILT ILGVLNGLVL LPVLLSFFGP YPEVSPANGL NRLPTPSPEP 1200 PPSVVRFAMP PGHTHSGSDS SDSEYSSQTT VSGLSEELRH YEAQQGAGGP AHQVIVEATE 1260 NPVFAHSTVV HPESRHHPPS NPRQQPHLDS GSLPPGRQGQ QPRRDPPREG LWPPPYRPRR 1320 DAFEISTEGH SGPSNRARWG PRGARSHNPR NPASTAMGSS VPGYCQPITT VTASASVTVA 1380 VHPPPVPGPG RNPRGGLCPG YPETDHGLFE DPHVPFHVRC ERRDSKVEVI ELQDVECEER 1440 PRGSSSN 1447

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
6DMB
6DMO
6DMY
6E1H
6N7G
6N7H
6N7K
6OEU
6OEV
6RMG
6RTW
6RTX
6RTY
6RVC
6RVD
6E1H
6OEU
6RMG
6RTW
6RVC

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	PTCH1		A0A452EIX7			Capra hircus	Prediction	More>>
1:1 ortholog	PTCH1	5727	Q13635			Homo sapiens	Publication	More>>
1:1 ortholog	Ptch1	19206	Q61115	CPO,CLP,CLO	E13.0, E13.5, E14.5	Mus musculus	Publication	More>>
1:1 ortholog	PTCH1	465254	A0A2J8JHA7			Pan troglodytes	Prediction	More>>
1:1 ortholog	Ptch1	89830	Q6UY90			Rattus norvegicus	Prediction	More>>
1:1 ortholog	ptch1		F8W5M6			Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
PTCH1	rs10512248	HI-SNP	30172247
PTCH1	c.1175C>T; p.Ala392Val (heterozygous)	WES and Sanger sequencing	29908092
PTCH1	rs10512248A>C	GWAS	28232668
PTCH1	c.1111C>T; p.A371* (heterozygous)	Sequencing	30962945

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs540045689	p.Ala4Gly	missense variant	-	NC_000009.12:g.95508351G>C	1000Genomes
rs864622762	p.Gly5Ala	missense variant	-	NC_000009.12:g.95508348C>G	-
rs1354741081	p.Glu9Asp	missense variant	-	NC_000009.12:g.95508335C>A	TOPMed
rs1046883730	p.Pro10Leu	missense variant	-	NC_000009.12:g.95508333G>A	TOPMed
rs779791579	p.Arg13Gly	missense variant	-	NC_000009.12:g.95508325G>C	ExAC,TOPMed,gnomAD
rs1233426743	p.Gly14Ser	missense variant	-	NC_000009.12:g.95508322C>T	TOPMed,gnomAD
rs1240000266	p.Gly15Ser	missense variant	-	NC_000009.12:g.95508319C>T	TOPMed
rs1057515721	p.Gly16Ser	missense variant	-	NC_000009.12:g.95508316C>T	TOPMed,gnomAD
rs1265021279	p.Gly17Asp	missense variant	-	NC_000009.12:g.95508312C>T	TOPMed,gnomAD
rs1217844666	p.Gly17Ser	missense variant	-	NC_000009.12:g.95508313C>T	TOPMed
rs1199437529	p.Ser18Gly	missense variant	-	NC_000009.12:g.95508310T>C	TOPMed
rs750062220	p.Ser18Thr	missense variant	-	NC_000009.12:g.95508309C>G	ExAC,gnomAD
rs587780708	p.Gly19Val	missense variant	-	NC_000009.12:g.95508306C>A	TOPMed,gnomAD
rs587780708	p.Gly19Asp	missense variant	-	NC_000009.12:g.95508306C>T	TOPMed,gnomAD
rs778460384	p.Gly19Ser	missense variant	-	NC_000009.12:g.95508307C>T	ExAC,TOPMed,gnomAD
rs1420016285	p.Cys20Ser	missense variant	-	NC_000009.12:g.95508303C>G	TOPMed
rs756724967	p.Ile21Leu	missense variant	-	NC_000009.12:g.95508301T>G	ExAC,TOPMed,gnomAD
rs756724967	p.Ile21Val	missense variant	-	NC_000009.12:g.95508301T>C	ExAC,TOPMed,gnomAD
rs575700967	p.Gly22Ala	missense variant	-	NC_000009.12:g.95508297C>G	1000Genomes,ExAC
rs863224654	p.Ala23Thr	missense variant	-	NC_000009.12:g.95508295C>T	TOPMed
rs761204245	p.Ala23Val	missense variant	-	NC_000009.12:g.95508294G>A	ExAC,gnomAD
rs761204245	p.Ala23Asp	missense variant	-	NC_000009.12:g.95508294G>T	ExAC,gnomAD
rs863224654	p.Ala23Ser	missense variant	-	NC_000009.12:g.95508295C>A	TOPMed
rs767973616	p.Pro24Leu	missense variant	-	NC_000009.12:g.95508291G>A	ExAC,TOPMed,gnomAD
rs1338078012	p.Pro24Thr	missense variant	-	NC_000009.12:g.95508292G>T	gnomAD
rs1338078012	p.Pro24Ser	missense variant	-	NC_000009.12:g.95508292G>A	gnomAD
rs774712511	p.Gly25Glu	missense variant	-	NC_000009.12:g.95508288C>T	ExAC,gnomAD
rs774712511	p.Gly25Ala	missense variant	-	NC_000009.12:g.95508288C>G	ExAC,gnomAD
rs1181222222	p.Arg26Leu	missense variant	-	NC_000009.12:g.95508285C>A	gnomAD
rs1408427240	p.Arg26Trp	missense variant	-	NC_000009.12:g.95508286G>A	TOPMed,gnomAD
rs762960154	p.Pro27Leu	missense variant	-	NC_000009.12:g.95508282G>A	ExAC,gnomAD
rs1245076183	p.Pro27Ser	missense variant	-	NC_000009.12:g.95508283G>A	gnomAD
rs1341574540	p.Ala28Thr	missense variant	-	NC_000009.12:g.95508280C>T	TOPMed
rs1220641430	p.Ala28Val	missense variant	-	NC_000009.12:g.95508279G>A	TOPMed
rs1329331221	p.Gly31Glu	missense variant	-	NC_000009.12:g.95508270C>T	gnomAD
rs768512190	p.Gly31Arg	missense variant	-	NC_000009.12:g.95508271C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly31GluPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95508270_95508271insTCTAACT	NCI-TCGA
rs746923835	p.Arg32Thr	missense variant	-	NC_000009.12:g.95508267C>G	ExAC,gnomAD
rs746923835	p.Arg32Lys	missense variant	-	NC_000009.12:g.95508267C>T	ExAC,gnomAD
rs913603578	p.Arg32Gly	missense variant	-	NC_000009.12:g.95508268T>C	gnomAD
rs771847879	p.Arg34Thr	missense variant	-	NC_000009.12:g.95508261C>G	ExAC,TOPMed,gnomAD
rs771847879	p.Arg34Lys	missense variant	-	NC_000009.12:g.95508261C>T	ExAC,TOPMed,gnomAD
rs587778627	p.Arg35Gln	missense variant	-	NC_000009.12:g.95508258C>T	ExAC,gnomAD
rs1385550193	p.Arg35Trp	missense variant	-	NC_000009.12:g.95508259G>A	gnomAD
rs1449765833	p.Thr36Arg	missense variant	-	NC_000009.12:g.95508255G>C	TOPMed
rs199976372	p.Gly37Arg	missense variant	-	NC_000009.12:g.95508253C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs748780206	p.Gly37Glu	missense variant	-	NC_000009.12:g.95508252C>T	ExAC,TOPMed,gnomAD
rs199976372	p.Gly37Trp	missense variant	-	NC_000009.12:g.95508253C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs143494325	p.Gly38Val	missense variant	-	NC_000009.12:g.95508249C>A	ESP,ExAC,TOPMed,gnomAD
rs143494325	p.Gly38Glu	missense variant	-	NC_000009.12:g.95508249C>T	ESP,ExAC,TOPMed,gnomAD
rs45574039	p.Gly38Arg	missense variant	-	NC_000009.12:g.95508250C>G	TOPMed,gnomAD
rs143494325	p.Gly38Ala	missense variant	-	NC_000009.12:g.95508249C>G	ESP,ExAC,TOPMed,gnomAD
rs45574039	p.Gly38Arg	missense variant	-	NC_000009.12:g.95508250C>T	TOPMed,gnomAD
rs768063889	p.Leu39Pro	missense variant	-	NC_000009.12:g.95508246A>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu39CysPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95508248C>-	NCI-TCGA
rs755400723	p.Arg40His	missense variant	-	NC_000009.12:g.95508243C>T	ExAC,gnomAD
rs1554709496	p.Arg41Cys	missense variant	-	NC_000009.12:g.95508241G>A	-
rs1554709493	p.Arg41Leu	missense variant	-	NC_000009.12:g.95508240C>A	-
rs1030446889	p.Ala42Gly	missense variant	-	NC_000009.12:g.95508237G>C	TOPMed,gnomAD
rs766536174	p.Ala43Thr	missense variant	-	NC_000009.12:g.95508235C>T	ExAC,TOPMed,gnomAD
rs148863241	p.Ala44Thr	missense variant	-	NC_000009.12:g.95508232C>T	ESP,TOPMed,gnomAD
rs1219886976	p.Ala44Val	missense variant	-	NC_000009.12:g.95508231G>A	gnomAD
rs587780692	p.Pro45Arg	missense variant	-	NC_000009.12:g.95508228G>C	ExAC,TOPMed,gnomAD
rs760670294	p.Asp46His	missense variant	-	NC_000009.12:g.95508226C>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp46Asn	missense variant	-	NC_000009.12:g.95508226C>T	NCI-TCGA
rs138729094	p.Arg47Gly	missense variant	-	NC_000009.12:g.95508223G>C	ESP,TOPMed,gnomAD
rs775408408	p.Arg47Pro	missense variant	-	NC_000009.12:g.95508222C>G	ExAC,TOPMed,gnomAD
rs775408408	p.Arg47Leu	missense variant	-	NC_000009.12:g.95508222C>A	ExAC,TOPMed,gnomAD
rs138729094	p.Arg47Trp	missense variant	-	NC_000009.12:g.95508223G>A	ESP,TOPMed,gnomAD
rs745685305	p.Asp48Tyr	missense variant	-	NC_000009.12:g.95508220C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp48Asn	missense variant	-	NC_000009.12:g.95508220C>T	NCI-TCGA
rs774156512	p.Tyr49Cys	missense variant	-	NC_000009.12:g.95508216T>C	ExAC,TOPMed,gnomAD
rs774156512	p.Tyr49Phe	missense variant	-	NC_000009.12:g.95508216T>A	ExAC,TOPMed,gnomAD
rs1019888019	p.Leu50Pro	missense variant	-	NC_000009.12:g.95508213A>G	TOPMed,gnomAD
rs777207639	p.Arg52Gln	missense variant	-	NC_000009.12:g.95508207C>T	ExAC,TOPMed,gnomAD
rs777207639	p.Arg52Pro	missense variant	-	NC_000009.12:g.95508207C>G	ExAC,TOPMed,gnomAD
rs372546614	p.Pro53Leu	missense variant	-	NC_000009.12:g.95508204G>A	ESP,gnomAD
rs1266988083	p.Pro53Ser	missense variant	-	NC_000009.12:g.95508205G>A	gnomAD
rs1008478587	p.Ser54Thr	missense variant	-	NC_000009.12:g.95508201C>G	TOPMed
rs1490959369	p.Ser54Gly	missense variant	-	NC_000009.12:g.95508202T>C	gnomAD
rs1205081001	p.Tyr55Phe	missense variant	-	NC_000009.12:g.95508198T>A	gnomAD
rs1340609158	p.Cys56Gly	missense variant	-	NC_000009.12:g.95508196A>C	gnomAD
rs1485701312	p.Asp57Glu	missense variant	-	NC_000009.12:g.95508191G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asp57Asn	missense variant	-	NC_000009.12:g.95508193C>T	NCI-TCGA
rs1249138008	p.Ala58Thr	missense variant	-	NC_000009.12:g.95508190C>T	gnomAD
rs147738224	p.Ala59Ser	missense variant	-	NC_000009.12:g.95508187C>A	TOPMed,gnomAD
rs1296707371	p.Ala61Gly	missense variant	-	NC_000009.12:g.95508180G>C	TOPMed
rs150069331	p.Ala61Thr	missense variant	-	NC_000009.12:g.95508181C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781768965	p.Glu63Gln	missense variant	-	NC_000009.12:g.95508175C>G	ExAC,gnomAD
rs781768965	p.Glu63Ter	stop gained	-	NC_000009.12:g.95508175C>A	ExAC,gnomAD
rs1025299062	p.Ser66Phe	missense variant	-	NC_000009.12:g.95508165G>A	TOPMed
NCI-TCGA novel	p.Ser66Pro	missense variant	-	NC_000009.12:g.95508166A>G	NCI-TCGA
rs1396778100	p.Lys67Glu	missense variant	-	NC_000009.12:g.95508163T>C	TOPMed
rs757430199	p.Gly68Glu	missense variant	-	NC_000009.12:g.95506598C>T	ExAC,TOPMed,gnomAD
RCV000761035	p.Gly68Glu	missense variant	Craniopharyngioma	NC_000009.12:g.95506598C>T	ClinVar
RCV000820241	p.Ala70Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506592G>A	ClinVar
RCV000528037	p.Ala70Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506593C>T	ClinVar
RCV000761112	p.Ala70Val	missense variant	Retinoblastoma (RB1)	NC_000009.12:g.95506592G>A	ClinVar
rs753960393	p.Ala70Thr	missense variant	-	NC_000009.12:g.95506593C>T	ExAC,TOPMed,gnomAD
rs764137082	p.Ala70Val	missense variant	-	NC_000009.12:g.95506592G>A	ExAC,gnomAD
RCV000465294	p.Thr71Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506589G>A	ClinVar
rs529720410	p.Thr71Ile	missense variant	-	NC_000009.12:g.95506589G>A	1000Genomes,ExAC,gnomAD
rs751511116	p.Arg73Gly	missense variant	-	NC_000009.12:g.95506584G>C	ExAC,TOPMed,gnomAD
RCV000565327	p.Arg73Trp	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506584G>A	ClinVar
RCV000456917	p.Arg73Trp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506584G>A	ClinVar
rs751511116	p.Arg73Trp	missense variant	-	NC_000009.12:g.95506584G>A	ExAC,TOPMed,gnomAD
rs997156828	p.Pro76Ser	missense variant	-	NC_000009.12:g.95506575G>A	TOPMed
RCV000622946	p.Trp78Ter	nonsense	Inborn genetic diseases	NC_000009.12:g.95506567C>T	ClinVar
rs1554708787	p.Trp78Ter	stop gained	-	NC_000009.12:g.95506567C>T	-
RCV000699517	p.Leu79Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506566G>T	ClinVar
rs1192030415	p.Arg80Thr	missense variant	-	NC_000009.12:g.95506562C>G	gnomAD
rs1192030415	p.Arg80Lys	missense variant	-	NC_000009.12:g.95506562C>T	gnomAD
RCV000628417	p.Phe83Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506554A>G	ClinVar
rs1263611523	p.Phe83Leu	missense variant	-	NC_000009.12:g.95506554A>G	gnomAD
rs1554708772	p.Arg85Gly	missense variant	-	NC_000009.12:g.95506548T>C	-
RCV000628361	p.Arg85Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506547C>T	ClinVar
RCV000575041	p.Arg85Lys	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506547C>T	ClinVar
RCV000628352	p.Arg85Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506547_95506548CT[1]	ClinVar
RCV000574728	p.Arg85Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506548T>C	ClinVar
rs151310492	p.Arg85Lys	missense variant	-	NC_000009.12:g.95506547C>T	ESP,ExAC,TOPMed,gnomAD
rs769604931	p.Leu86Phe	missense variant	-	NC_000009.12:g.95506545G>A	ExAC,TOPMed,gnomAD
RCV000205683	p.Leu87Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506542_95506543AG[1]	ClinVar
RCV000374909	p.Leu87Ter	frameshift	-	NC_000009.12:g.95506542_95506543AG[1]	ClinVar
RCV000628402	p.Leu87Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506541_95506542del	ClinVar
rs1360279030	p.Cys92Tyr	missense variant	-	NC_000009.12:g.95506526C>T	TOPMed,gnomAD
rs1360279030	p.Cys92Phe	missense variant	-	NC_000009.12:g.95506526C>A	TOPMed,gnomAD
RCV000628411	p.Cys92Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95506522del	ClinVar
RCV000205973	p.Tyr93Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506499_95506533del	ClinVar
RCV000692295	p.Tyr93Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506523T>C	ClinVar
rs532713234	p.Lys96Glu	missense variant	-	NC_000009.12:g.95506515T>C	1000Genomes,ExAC,gnomAD
rs768274370	p.Asn97His	missense variant	-	NC_000009.12:g.95506512T>G	ExAC,gnomAD
COSM1464234	p.Asn97LysPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95506510_95506511insT	NCI-TCGA Cosmic
COSM5189016	p.Asn97ThrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95506511T>-	NCI-TCGA Cosmic
RCV000578352	p.Asn97Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506517del	ClinVar
RCV000492530	p.Cys98Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506507G>T	ClinVar
RCV000206189	p.Cys98Tyr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506508C>T	ClinVar
rs1131690968	p.Cys98Ter	stop gained	-	NC_000009.12:g.95506507G>T	-
rs746435405	p.Cys98Tyr	missense variant	-	NC_000009.12:g.95506508C>T	ExAC,gnomAD
rs1036074195	p.Gly99Cys	missense variant	-	NC_000009.12:g.95506506C>A	TOPMed,gnomAD
rs753884837	p.Gly99Asp	missense variant	-	NC_000009.12:g.95506505C>T	ExAC,gnomAD
RCV000700857	p.Gly99Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95506506del	ClinVar
rs1006475352	p.Lys100Arg	missense variant	-	NC_000009.12:g.95506502T>C	TOPMed
COSM1111549	p.Phe101Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95506498G>T	NCI-TCGA Cosmic
rs199522392	p.Leu102Phe	missense variant	-	NC_000009.12:g.95506495C>G	-
RCV000034569	p.Leu102Phe	missense variant	-	NC_000009.12:g.95506495C>G	ClinVar
rs746275162	p.Val104Gly	missense variant	-	NC_000009.12:g.95506490A>C	ExAC,gnomAD
rs746275162	p.Val104Ala	missense variant	-	NC_000009.12:g.95506490A>G	ExAC,gnomAD
rs1131690998	p.Leu106Arg	missense variant	-	NC_000009.12:g.95506484A>C	-
RCV000492650	p.Leu106Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506484A>C	ClinVar
RCV000703153	p.Leu106Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506484A>C	ClinVar
rs1338490449	p.Ile108Val	missense variant	-	NC_000009.12:g.95506479T>C	TOPMed
rs144182921	p.Ile108Met	missense variant	-	NC_000009.12:g.95506477T>C	ESP,ExAC,TOPMed,gnomAD
RCV000585211	p.Ile108Met	missense variant	-	NC_000009.12:g.95506477T>C	ClinVar
RCV000167969	p.Ile108Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506477T>C	ClinVar
RCV000561332	p.Ile108Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506479T>C	ClinVar
COSM1111544	p.Phe109Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95506476A>C	NCI-TCGA Cosmic
rs1060502284	p.Gly110Ala	missense variant	-	NC_000009.12:g.95506472C>G	TOPMed,gnomAD
RCV000460060	p.Gly110Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506472C>G	ClinVar
rs777897973	p.Ala111Thr	missense variant	-	NC_000009.12:g.95506470C>T	ExAC,gnomAD
RCV000563183	p.Ala111Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506470C>T	ClinVar
rs1490482816	p.Phe112Leu	missense variant	-	NC_000009.12:g.95506465G>T	TOPMed,gnomAD
rs1490482816	p.Phe112Leu	missense variant	-	NC_000009.12:g.95506465G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ala113Thr	missense variant	-	NC_000009.12:g.95506464C>T	NCI-TCGA
rs752665265	p.Val114Ala	missense variant	-	NC_000009.12:g.95506460A>G	ExAC,gnomAD
rs544052043	p.Gly115Ala	missense variant	-	NC_000009.12:g.95506457C>G	1000Genomes,ExAC,gnomAD
RCV000175570	p.Gly115Ter	nonsense	-	NC_000009.12:g.95506458C>A	ClinVar
rs794727242	p.Gly115Ter	stop gained	-	NC_000009.12:g.95506458C>A	-
rs1234085004	p.Lys117Arg	missense variant	-	NC_000009.12:g.95506451T>C	gnomAD
rs765106589	p.Ala119Thr	missense variant	-	NC_000009.12:g.95506446C>T	ExAC,gnomAD
rs1370527214	p.Asn120Thr	missense variant	-	NC_000009.12:g.95506442T>G	gnomAD
rs1421018642	p.Leu121Pro	missense variant	-	NC_000009.12:g.95506439A>G	gnomAD
rs776424978	p.Leu121Phe	missense variant	-	NC_000009.12:g.95506440G>A	ExAC,TOPMed,gnomAD
rs776424978	p.Leu121Val	missense variant	-	NC_000009.12:g.95506440G>C	ExAC,TOPMed,gnomAD
RCV000532806	p.Leu121Phe	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506440G>A	ClinVar
rs374150356	p.Glu122Lys	missense variant	-	NC_000009.12:g.95506437C>T	ESP
rs1479871006	p.Glu122Asp	missense variant	-	NC_000009.12:g.95506435C>G	gnomAD
RCV000546788	p.Glu122Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506435C>G	ClinVar
rs763779667	p.Asn124Lys	missense variant	-	NC_000009.12:g.95506429G>C	ExAC,gnomAD
RCV000492411	p.Asn124Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506414_95506430del	ClinVar
RCV000531263	p.Asn124Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506429G>C	ClinVar
rs1340143606	p.Val125Ala	missense variant	-	NC_000009.12:g.95506427A>G	gnomAD
rs760253622	p.Val125Leu	missense variant	-	NC_000009.12:g.95506428C>G	ExAC,gnomAD
rs760253622	p.Val125Met	missense variant	-	NC_000009.12:g.95506428C>T	ExAC,gnomAD
rs774822170	p.Glu127Lys	missense variant	-	NC_000009.12:g.95506422C>T	ExAC,TOPMed,gnomAD
rs1232294231	p.Glu127Asp	missense variant	-	NC_000009.12:g.95506420C>G	TOPMed,gnomAD
RCV000198695	p.Val130Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95506413C>T	ClinVar
RCV000566926	p.Val130Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95506413C>T	ClinVar
rs746339472	p.Val130Met	missense variant	-	NC_000009.12:g.95506413C>T	ExAC,TOPMed,gnomAD
rs1321623220	p.Glu131Lys	missense variant	-	NC_000009.12:g.95506410C>T	gnomAD
rs1285396732	p.Glu131Gly	missense variant	-	NC_000009.12:g.95506409T>C	gnomAD
rs779013862	p.Gly134Glu	missense variant	-	NC_000009.12:g.95485868C>T	ExAC,gnomAD
RCV000687492	p.Arg135Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95485866G>A	ClinVar
RCV000760320	p.Arg135Ter	nonsense	-	NC_000009.12:g.95485866G>A	ClinVar
rs375628555	p.Arg135Gln	missense variant	-	NC_000009.12:g.95485865C>T	ESP,ExAC,TOPMed,gnomAD
rs1131690986	p.Arg135Ter	stop gained	-	NC_000009.12:g.95485866G>A	-
RCV000204813	p.Arg135Gln	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485865C>T	ClinVar
RCV000492613	p.Arg135Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95485866G>A	ClinVar
rs1240746395	p.Val136Leu	missense variant	-	NC_000009.12:g.95485863C>A	gnomAD
RCV000681475	p.Ser137Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95485862dup	ClinVar
RCV000545328	p.Arg138His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485856C>T	ClinVar
rs139535966	p.Arg138Cys	missense variant	-	NC_000009.12:g.95485857G>A	ESP,ExAC,TOPMed,gnomAD
rs763774051	p.Arg138His	missense variant	-	NC_000009.12:g.95485856C>T	ExAC,TOPMed,gnomAD
RCV000697497	p.Arg138Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485857G>A	ClinVar
RCV000567855	p.Arg138Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95485857G>A	ClinVar
RCV000764851	p.Arg138Cys	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95485857G>A	ClinVar
rs1554702197	p.Leu140Ser	missense variant	-	NC_000009.12:g.95485850A>G	-
RCV000564718	p.Leu140Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95485850A>G	ClinVar
NCI-TCGA novel	p.Tyr142LeuPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95485844T>-	NCI-TCGA
RCV000123036	p.Arg144Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485839G>A	ClinVar
rs1316474105	p.Arg144His	missense variant	-	NC_000009.12:g.95485838C>T	gnomAD
rs587780705	p.Arg144Cys	missense variant	-	NC_000009.12:g.95485839G>A	ExAC,gnomAD
RCV000698113	p.Arg144His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485838C>T	ClinVar
NCI-TCGA novel	p.Arg144Leu	missense variant	-	NC_000009.12:g.95485838C>A	NCI-TCGA
rs1554702186	p.Gln145Ter	stop gained	-	NC_000009.12:g.95485836G>A	-
RCV000628382	p.Gln145Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95485836G>A	ClinVar
rs1396282545	p.Lys146Asn	missense variant	-	NC_000009.12:g.95485831C>A	gnomAD
RCV000691350	p.Ile147Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485830T>C	ClinVar
rs1344258746	p.Glu150Ter	stop gained	-	NC_000009.12:g.95485821C>A	TOPMed
rs1344258746	p.Glu150Lys	missense variant	-	NC_000009.12:g.95485821C>T	TOPMed
RCV000628407	p.Glu150Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95485821C>A	ClinVar
rs751024812	p.Ala151Thr	missense variant	-	NC_000009.12:g.95485818C>T	ExAC,TOPMed,gnomAD
RCV000554128	p.Ala151Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485818C>A	ClinVar
rs751024812	p.Ala151Ser	missense variant	-	NC_000009.12:g.95485818C>A	ExAC,TOPMed,gnomAD
rs199757908	p.Met152Ile	missense variant	-	NC_000009.12:g.95485813C>T	1000Genomes
RCV000465139	p.Met152Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95485815_95485816del	ClinVar
rs766905791	p.Met152Val	missense variant	-	NC_000009.12:g.95485815T>C	ExAC,TOPMed,gnomAD
rs1302474403	p.Asn154Ser	missense variant	-	NC_000009.12:g.95485808T>C	gnomAD
rs369105527	p.Pro155Ser	missense variant	-	NC_000009.12:g.95485806G>A	ESP,ExAC,TOPMed,gnomAD
RCV000467509	p.Pro155Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485806G>A	ClinVar
rs200729445	p.Gln156His	missense variant	-	NC_000009.12:g.95485801T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1060502288	p.Ile159Val	missense variant	-	NC_000009.12:g.95485794T>C	-
RCV000477034	p.Ile159Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485794T>C	ClinVar
RCV000469226	p.Gln160Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485790T>C	ClinVar
rs1060502267	p.Gln160Arg	missense variant	-	NC_000009.12:g.95485790T>C	-
RCV000492759	p.Thr161Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95485781_95485790del	ClinVar
rs1165518590	p.Pro162Ala	missense variant	-	NC_000009.12:g.95485785G>C	gnomAD
rs770046324	p.Pro162Arg	missense variant	-	NC_000009.12:g.95485784G>C	ExAC,gnomAD
rs56406491	p.Lys163Thr	missense variant	-	NC_000009.12:g.95485781T>G	ExAC,gnomAD
rs56406491	p.Lys163Arg	missense variant	-	NC_000009.12:g.95485781T>C	ExAC,gnomAD
RCV000486502	p.Glu164Ter	nonsense	-	NC_000009.12:g.95485780_95485781insAT	ClinVar
rs371982458	p.Glu165Lys	missense variant	-	NC_000009.12:g.95485776C>T	ESP,TOPMed
RCV000123039	p.Ala167Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485769G>T	ClinVar
RCV000570937	p.Ala167Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95485769G>T	ClinVar
rs587780707	p.Ala167Asp	missense variant	-	NC_000009.12:g.95485769G>T	gnomAD
rs149547604	p.Ala167Thr	missense variant	-	NC_000009.12:g.95485770C>T	ESP,ExAC,TOPMed,gnomAD
RCV000628337	p.Ala167Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485770C>T	ClinVar
rs1220933796	p.Val169Ile	missense variant	-	NC_000009.12:g.95485764C>T	TOPMed,gnomAD
rs1554702106	p.Thr171Ile	missense variant	-	NC_000009.12:g.95485757G>A	-
RCV000628355	p.Thr171Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485757G>A	ClinVar
rs1244945859	p.Thr172Ala	missense variant	-	NC_000009.12:g.95485755T>C	gnomAD
rs1306400694	p.Glu173Gly	missense variant	-	NC_000009.12:g.95485751T>C	gnomAD
rs587778633	p.Ala174Thr	missense variant	-	NC_000009.12:g.95485749C>T	-
RCV000210888	p.Ala174Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485748G>A	ClinVar
rs772368023	p.Ala174Val	missense variant	-	NC_000009.12:g.95485748G>A	TOPMed,gnomAD
RCV000121904	p.Ala174Thr	missense variant	-	NC_000009.12:g.95485749C>T	ClinVar
VAR_007843	p.Leu175Pro	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
rs2066834	p.Leu176Ile	missense variant	-	NC_000009.12:g.95485743G>T	NCI-TCGA
rs1307710091	p.Gln177Arg	missense variant	-	NC_000009.12:g.95485739T>C	TOPMed
rs1554702067	p.Asp180His	missense variant	-	NC_000009.12:g.95485731C>G	-
RCV000531688	p.Asp180His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485731C>G	ClinVar
rs868350953	p.Ser181Leu	missense variant	-	NC_000009.12:g.95485727G>A	TOPMed,gnomAD
rs567721919	p.Ala182Val	missense variant	-	NC_000009.12:g.95485724G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000556825	p.Ala182Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485724G>A	ClinVar
NCI-TCGA novel	p.Ala182Thr	missense variant	-	NC_000009.12:g.95485725C>T	NCI-TCGA
rs755867972	p.Gln184Arg	missense variant	-	NC_000009.12:g.95485718T>C	ExAC,gnomAD
rs369893129	p.Gln184His	missense variant	-	NC_000009.12:g.95485717C>A	ESP,ExAC,TOPMed,gnomAD
RCV000197270	p.Gln184His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485717C>A	ClinVar
rs1276503562	p.Ala185Val	missense variant	-	NC_000009.12:g.95485715G>A	TOPMed
rs780733265	p.Ala185Pro	missense variant	-	NC_000009.12:g.95485716C>G	ExAC,gnomAD
RCV000704400	p.Ser186Gly	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485713T>C	ClinVar
rs1554702047	p.Arg187Cys	missense variant	-	NC_000009.12:g.95485710G>A	-
rs138034434	p.Arg187His	missense variant	-	NC_000009.12:g.95485709C>T	ESP,ExAC,TOPMed,gnomAD
RCV000628341	p.Arg187Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485710G>A	ClinVar
rs751113638	p.His189Arg	missense variant	-	NC_000009.12:g.95485703T>C	ExAC,gnomAD
rs1249050389	p.Tyr191Ter	stop gained	-	NC_000009.12:g.95485696G>C	gnomAD
rs1480028040	p.Tyr191His	missense variant	-	NC_000009.12:g.95485698A>G	gnomAD
rs763513784	p.Met192Val	missense variant	-	NC_000009.12:g.95485695T>C	ExAC,gnomAD
rs1318117498	p.Met192Ile	missense variant	-	NC_000009.12:g.95485693C>G	gnomAD
RCV000701045	p.Tyr193Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95485690G>T	ClinVar
rs1554702009	p.Arg195Thr	missense variant	-	NC_000009.12:g.95485685C>G	-
RCV000545639	p.Arg195Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95485685C>G	ClinVar
rs1318370560	p.Gln196Arg	missense variant	-	NC_000009.12:g.95482201T>C	TOPMed
rs1312950307	p.Trp197Arg	missense variant	-	NC_000009.12:g.95482199A>G	gnomAD
rs1064793922	p.Trp197Ter	stop gained	-	NC_000009.12:g.95482198C>T	gnomAD
rs1064793922	p.Trp197Leu	missense variant	-	NC_000009.12:g.95482198C>A	gnomAD
RCV000534590	p.Trp197Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482199A>G	ClinVar
RCV000478704	p.Trp197Ter	nonsense	-	NC_000009.12:g.95482198C>T	ClinVar
RCV000551617	p.Trp197Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95482198C>T	ClinVar
RCV000229788	p.Leu199Trp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482192A>C	ClinVar
rs767791358	p.Leu199Trp	missense variant	-	NC_000009.12:g.95482192A>C	ExAC,gnomAD
COSM3909237	p.His201Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95482187G>A	NCI-TCGA Cosmic
RCV000535792	p.His201Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95482186del	ClinVar
rs769719333	p.Leu202Phe	missense variant	-	NC_000009.12:g.95482182C>A	ExAC,gnomAD
RCV000483470	p.Leu202Ter	frameshift	-	NC_000009.12:g.95482182del	ClinVar
rs1261920867	p.Cys203Tyr	missense variant	-	NC_000009.12:g.95482180C>T	TOPMed
RCV000526834	p.Cys203Tyr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482180C>T	ClinVar
RCV000197615	p.Tyr204Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95482176G>C	ClinVar
rs863224486	p.Tyr204Ter	stop gained	-	NC_000009.12:g.95482176G>C	-
rs1554700724	p.Lys205Gln	missense variant	-	NC_000009.12:g.95482175T>G	-
RCV000628377	p.Lys205Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95482175del	ClinVar
RCV000575113	p.Lys205Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95482175T>G	ClinVar
rs1299359988	p.Ser206Pro	missense variant	-	NC_000009.12:g.95482172A>G	gnomAD
COSM1111539	p.Glu208Ter	missense variant	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95482166C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu209Ile	missense variant	-	NC_000009.12:g.95482163G>T	NCI-TCGA
RCV000703469	p.Ile210Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95482162del	ClinVar
rs776773031	p.Thr211Ala	missense variant	-	NC_000009.12:g.95482157T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu212Ter	missense variant	-	NC_000009.12:g.95482154C>A	NCI-TCGA
NCI-TCGA novel	p.Tyr215Ser	missense variant	-	NC_000009.12:g.95482144T>G	NCI-TCGA
RCV000123042	p.Met216Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482142T>C	ClinVar
rs587780709	p.Met216Val	missense variant	-	NC_000009.12:g.95482142T>C	ExAC,TOPMed,gnomAD
rs587780709	p.Met216Leu	missense variant	-	NC_000009.12:g.95482142T>G	ExAC,TOPMed,gnomAD
rs780378700	p.Asp217Asn	missense variant	-	NC_000009.12:g.95482139C>T	ExAC,TOPMed,gnomAD
rs780378700	p.Asp217Tyr	missense variant	-	NC_000009.12:g.95482139C>A	ExAC,TOPMed,gnomAD
RCV000704357	p.Gln218Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95482136dup	ClinVar
rs1425544626	p.Ile219Met	missense variant	-	NC_000009.12:g.95482038T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ile219Leu	missense variant	-	NC_000009.12:g.95482040T>A	NCI-TCGA
rs768776930	p.Ile220Val	missense variant	-	NC_000009.12:g.95482037T>C	ExAC,TOPMed,gnomAD
RCV000762566	p.Ile220Met	missense variant	-	NC_000009.12:g.95482035T>C	ClinVar
rs1554700647	p.Glu221Ter	stop gained	-	NC_000009.12:g.95482034C>A	-
RCV000657639	p.Glu221Ter	nonsense	-	NC_000009.12:g.95482034C>A	ClinVar
RCV000199837	p.Tyr222Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95482029A>T	ClinVar
RCV000492744	p.Tyr222Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95482029_95482030AT[1]	ClinVar
rs863224487	p.Tyr222Ter	stop gained	-	NC_000009.12:g.95482029A>T	-
rs1266754583	p.Leu223Ile	missense variant	-	NC_000009.12:g.95482028G>T	gnomAD
rs747205016	p.Tyr224Phe	missense variant	-	NC_000009.12:g.95482024T>A	ExAC,gnomAD
COSM3909233	p.Ile228Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95482013T>G	NCI-TCGA Cosmic
rs1554700630	p.Thr230Ile	missense variant	-	NC_000009.12:g.95482006G>A	-
RCV000628428	p.Thr230Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482006G>A	ClinVar
VAR_020845	p.Thr230Pro	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
rs1272320675	p.Pro231Leu	missense variant	-	NC_000009.12:g.95482003G>A	gnomAD
RCV000690830	p.Pro231Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95482004G>A	ClinVar
NCI-TCGA novel	p.Asp233Glu	missense variant	-	NC_000009.12:g.95481996G>T	NCI-TCGA
NCI-TCGA novel	p.Asp233Gly	missense variant	-	NC_000009.12:g.95481997T>C	NCI-TCGA
rs1060502299	p.Cys234Phe	missense variant	-	NC_000009.12:g.95481994C>A	-
RCV000472872	p.Cys234Phe	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95481994C>A	ClinVar
rs1060502287	p.Trp236Ter	stop gained	-	NC_000009.12:g.95481987C>T	-
RCV000467813	p.Trp236Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95481987C>T	ClinVar
RCV000492205	p.Ala239Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95481983dup	ClinVar
NCI-TCGA novel	p.Ala239Val	missense variant	-	NC_000009.12:g.95481979G>A	NCI-TCGA
rs376353501	p.Gln242Glu	missense variant	-	NC_000009.12:g.95481971G>C	ESP,ExAC,TOPMed,gnomAD
rs141265422	p.Ser243Phe	missense variant	-	NC_000009.12:g.95481967G>A	ESP,ExAC,gnomAD
rs372422922	p.Ser243Pro	missense variant	-	NC_000009.12:g.95481968A>G	ESP,ExAC,TOPMed,gnomAD
RCV000205559	p.Ser243Pro	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95481968A>G	ClinVar
rs771464575	p.Gly244Arg	missense variant	-	NC_000009.12:g.95481965C>T	ExAC,gnomAD
rs1441758390	p.Ala246Thr	missense variant	-	NC_000009.12:g.95481959C>T	TOPMed
rs1060502281	p.Tyr247Ter	stop gained	-	NC_000009.12:g.95481954G>T	-
RCV000492338	p.Tyr247Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95481954G>T	ClinVar
RCV000471602	p.Tyr247Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95481954G>T	ClinVar
rs754650075	p.Lys251Arg	missense variant	-	NC_000009.12:g.95480583T>C	ExAC,gnomAD
rs751223274	p.Pro252Ala	missense variant	-	NC_000009.12:g.95480581G>C	ExAC,gnomAD
RCV000540755	p.Pro252Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480580G>C	ClinVar
rs1554700016	p.Pro252Arg	missense variant	-	NC_000009.12:g.95480580G>C	-
COSM3927298	p.Pro253Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480578G>A	NCI-TCGA Cosmic
COSM6116540	p.Pro253Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480577G>A	NCI-TCGA Cosmic
rs1301828736	p.Leu254Ser	missense variant	-	NC_000009.12:g.95480574A>G	TOPMed
rs779870576	p.Arg255Gln	missense variant	-	NC_000009.12:g.95480571C>T	ExAC,gnomAD
RCV000694094	p.Arg255Gln	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480571C>T	ClinVar
RCV000697321	p.Arg255Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95480568del	ClinVar
rs779870576	p.Arg255Leu	missense variant	-	NC_000009.12:g.95480571C>A	ExAC,gnomAD
rs925067209	p.Arg255Trp	missense variant	-	NC_000009.12:g.95480572G>A	gnomAD
rs1554700010	p.Trp256Ter	stop gained	-	NC_000009.12:g.95480568C>T	-
RCV000628399	p.Trp256Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95480568C>T	ClinVar
COSM6116544	p.Trp256Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480567C>G	NCI-TCGA Cosmic
rs758223838	p.Thr257Ile	missense variant	-	NC_000009.12:g.95480565G>A	ExAC,gnomAD
rs765174527	p.Asp260His	missense variant	-	NC_000009.12:g.95480557C>G	ExAC,TOPMed,gnomAD
rs765174527	p.Asp260Asn	missense variant	-	NC_000009.12:g.95480557C>T	ExAC,TOPMed,gnomAD
rs368102115	p.Asp260Ala	missense variant	-	NC_000009.12:g.95480556T>G	ESP,ExAC,TOPMed,gnomAD
RCV000560942	p.Asp260Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480557C>T	ClinVar
rs1318134628	p.Leu262Ser	missense variant	-	NC_000009.12:g.95480550A>G	TOPMed
rs1421389999	p.Leu268Phe	missense variant	-	NC_000009.12:g.95480531T>G	gnomAD
COSM1111529	p.Lys269Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480528C>A	NCI-TCGA Cosmic
RCV000492367	p.Lys269Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480528_95480531del	ClinVar
RCV000628383	p.Lys269Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95480528_95480531del	ClinVar
rs759781538	p.Ile271Val	missense variant	-	NC_000009.12:g.95480524T>C	ExAC,gnomAD
rs774476280	p.Asn272Asp	missense variant	-	NC_000009.12:g.95480521T>C	ExAC,gnomAD
rs771286385	p.Asn272Ser	missense variant	-	NC_000009.12:g.95480520T>C	ExAC,gnomAD
RCV000657260	p.Tyr273Ter	frameshift	-	NC_000009.12:g.95480515_95480518delinsATC	ClinVar
RCV000657376	p.Val275Ter	frameshift	-	NC_000009.12:g.95480514del	ClinVar
rs1219459429	p.Trp278Gly	missense variant	-	NC_000009.12:g.95480503A>C	gnomAD
COSM29053	p.Trp278Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95480502C>T	NCI-TCGA Cosmic
RCV000678313	p.Met281Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480493A>G	ClinVar
NCI-TCGA novel	p.Met281Ile	missense variant	-	NC_000009.12:g.95480492C>T	NCI-TCGA
NCI-TCGA novel	p.Leu282Val	missense variant	-	NC_000009.12:g.95480491G>C	NCI-TCGA
NCI-TCGA novel	p.Glu286Lys	missense variant	-	NC_000009.12:g.95480479C>T	NCI-TCGA
rs1178742053	p.Gly288Val	missense variant	-	NC_000009.12:g.95480472C>A	gnomAD
rs1221172962	p.His289Arg	missense variant	-	NC_000009.12:g.95480469T>C	gnomAD
RCV000204718	p.Gly290Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480466C>T	ClinVar
rs864622130	p.Gly290Asp	missense variant	-	NC_000009.12:g.95480466C>T	-
RCV000686206	p.Gly290Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95480462del	ClinVar
RCV000705881	p.Tyr291Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95480462G>C	ClinVar
RCV000529527	p.Met292Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480459C>T	ClinVar
rs748727674	p.Met292Arg	missense variant	-	NC_000009.12:g.95480460A>C	ExAC,gnomAD
rs748727674	p.Met292Thr	missense variant	-	NC_000009.12:g.95480460A>G	ExAC,gnomAD
NCI-TCGA novel	p.Met292Val	missense variant	-	NC_000009.12:g.95480461T>C	NCI-TCGA
rs776187586	p.Met292Ile	missense variant	-	NC_000009.12:g.95480459C>T	ExAC,gnomAD
rs768095469	p.Asp293Ala	missense variant	-	NC_000009.12:g.95480457T>G	ExAC,gnomAD
rs768095469	p.Asp293Gly	missense variant	-	NC_000009.12:g.95480457T>C	ExAC,gnomAD
RCV000492082	p.Asp293Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480450_95480460del	ClinVar
RCV000227329	p.Arg294His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480454C>T	ClinVar
rs878853859	p.Arg294Pro	missense variant	-	NC_000009.12:g.95480454C>G	gnomAD
rs878853859	p.Arg294His	missense variant	-	NC_000009.12:g.95480454C>T	gnomAD
RCV000231361	p.Arg294Pro	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480454C>G	ClinVar
rs370755364	p.Pro295Leu	missense variant	-	NC_000009.12:g.95480451G>A	ESP,ExAC,TOPMed,gnomAD
RCV000572914	p.Pro295Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480451G>A	ClinVar
RCV000492174	p.Cys296Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480449del	ClinVar
RCV000819395	p.Cys296Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95480449del	ClinVar
rs1456514392	p.Asn298Ser	missense variant	-	NC_000009.12:g.95480442T>C	gnomAD
RCV000233022	p.Pro299Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480440G>A	ClinVar
RCV000477511	p.Pro299Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480439G>A	ClinVar
rs745669231	p.Pro299Ser	missense variant	-	NC_000009.12:g.95480440G>A	ExAC,gnomAD
rs141939274	p.Pro299Leu	missense variant	-	NC_000009.12:g.95480439G>A	ESP,ExAC,TOPMed,gnomAD
rs1421967825	p.Ala300Val	missense variant	-	NC_000009.12:g.95480436G>A	gnomAD
RCV000628378	p.Asp301Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480434C>T	ClinVar
rs767601899	p.Asp301Asn	missense variant	-	NC_000009.12:g.95480434C>T	ExAC,TOPMed,gnomAD
rs767601899	p.Asp301Tyr	missense variant	-	NC_000009.12:g.95480434C>A	ExAC,TOPMed,gnomAD
RCV000764850	p.Asp301Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480434C>T	ClinVar
rs1487227339	p.Pro302Arg	missense variant	-	NC_000009.12:g.95480430G>C	TOPMed,gnomAD
rs1197814180	p.Pro302Ser	missense variant	-	NC_000009.12:g.95480431G>A	gnomAD
RCV000628415	p.Pro302Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480430G>C	ClinVar
rs1172719429	p.Asp303His	missense variant	-	NC_000009.12:g.95480428C>G	TOPMed
RCV000762565	p.Asp303His	missense variant	-	NC_000009.12:g.95480428C>G	ClinVar
RCV000542244	p.Asp303His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480428C>G	ClinVar
RCV000531012	p.Ala306Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480419C>T	ClinVar
rs547776340	p.Ala306Thr	missense variant	-	NC_000009.12:g.95480419C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1255733467	p.Thr307Ile	missense variant	-	NC_000009.12:g.95480415G>A	TOPMed,gnomAD
RCV000543470	p.Ala308Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95480414dup	ClinVar
rs773704443	p.Ala308Thr	missense variant	-	NC_000009.12:g.95480413C>T	ExAC,gnomAD
rs762382517	p.Pro309Leu	missense variant	-	NC_000009.12:g.95480409G>A	ExAC,gnomAD
RCV000560764	p.Pro309Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480409G>A	ClinVar
rs762382517	p.Pro309Arg	missense variant	-	NC_000009.12:g.95480409G>C	ExAC,gnomAD
rs777039758	p.Asn310His	missense variant	-	NC_000009.12:g.95480407T>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys311Thr	missense variant	-	NC_000009.12:g.95480403T>G	NCI-TCGA
COSM3909229	p.Asn312Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480399A>T	NCI-TCGA Cosmic
RCV000698999	p.Ser313Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95480397G>C	ClinVar
rs746517321	p.Lys315Thr	missense variant	-	NC_000009.12:g.95480391T>G	ExAC,gnomAD
RCV000700234	p.Lys315Glu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480392T>C	ClinVar
rs143813198	p.Pro316His	missense variant	-	NC_000009.12:g.95480089G>T	ESP,ExAC,TOPMed,gnomAD
rs143813198	p.Pro316Arg	missense variant	-	NC_000009.12:g.95480089G>C	ESP,ExAC,TOPMed,gnomAD
rs1380199153	p.Leu317Val	missense variant	-	NC_000009.12:g.95480087G>C	TOPMed
RCV000764849	p.Leu317Phe	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95480087G>A	ClinVar
RCV000701203	p.Leu317Phe	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480087G>A	ClinVar
rs1438545679	p.Met319Val	missense variant	-	NC_000009.12:g.95480081T>C	TOPMed,gnomAD
rs867609005	p.Met319Thr	missense variant	-	NC_000009.12:g.95480080A>G	gnomAD
RCV000628329	p.Met319Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480081T>C	ClinVar
NCI-TCGA novel	p.Met319IlePheSerTerUnkUnkUnk	frameshift	-	NC_000009.12:g.95480079_95480080insA	NCI-TCGA
rs1554699658	p.Ala320Ser	missense variant	-	NC_000009.12:g.95480078C>A	-
RCV000628367	p.Ala320Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480078C>A	ClinVar
COSM462360	p.Gly326Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480059C>G	NCI-TCGA Cosmic
rs1484111496	p.His328Leu	missense variant	-	NC_000009.12:g.95480053T>A	gnomAD
rs1225922358	p.His328Tyr	missense variant	-	NC_000009.12:g.95480054G>A	TOPMed
RCV000696299	p.Arg332Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480041C>G	ClinVar
rs1256525885	p.Arg332Gly	missense variant	-	NC_000009.12:g.95480042T>C	gnomAD
COSM144244	p.Arg332Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95480042T>A	NCI-TCGA Cosmic
rs1238175144	p.Lys333Arg	missense variant	-	NC_000009.12:g.95480038T>C	gnomAD
RCV000492509	p.Tyr334Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480026_95480035del	ClinVar
rs749049752	p.Met335Thr	missense variant	-	NC_000009.12:g.95480032A>G	ExAC,gnomAD
COSM1111519	p.Met335Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480031C>T	NCI-TCGA Cosmic
rs1446713476	p.His336Asn	missense variant	-	NC_000009.12:g.95480030G>T	TOPMed
rs777696239	p.Glu339Gly	missense variant	-	NC_000009.12:g.95480020T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu339Gln	missense variant	-	NC_000009.12:g.95480021C>G	NCI-TCGA
rs769612442	p.Glu340Gly	missense variant	-	NC_000009.12:g.95480017T>C	ExAC,gnomAD
rs780256480	p.Leu341Val	missense variant	-	NC_000009.12:g.95480015A>C	ExAC
RCV000492369	p.Leu341Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95480014A>T	ClinVar
rs1131690970	p.Leu341Ter	stop gained	-	NC_000009.12:g.95480014A>T	-
COSM48712	p.Leu341Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95480013C>G	NCI-TCGA Cosmic
rs1245184042	p.Ile342Leu	missense variant	-	NC_000009.12:g.95480012T>G	TOPMed
RCV000761122	p.Val343Ala	missense variant	Retinoblastoma (RB1)	NC_000009.12:g.95480008A>G	ClinVar
rs962982192	p.Val343Ala	missense variant	-	NC_000009.12:g.95480008A>G	TOPMed
RCV000812856	p.Val343Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95480008A>G	ClinVar
rs758585782	p.Gly344Asp	missense variant	-	NC_000009.12:g.95480005C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly344Ser	missense variant	-	NC_000009.12:g.95480006C>T	NCI-TCGA
rs750628569	p.Gly345Ser	missense variant	-	NC_000009.12:g.95480003C>T	ExAC,gnomAD
rs1288810300	p.Gly345Asp	missense variant	-	NC_000009.12:g.95480002C>T	gnomAD
rs1060502279	p.Val347Phe	missense variant	-	NC_000009.12:g.95479997C>A	TOPMed,gnomAD
rs1060502279	p.Val347Leu	missense variant	-	NC_000009.12:g.95479997C>G	TOPMed,gnomAD
RCV000456320	p.Val347Phe	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479997C>A	ClinVar
RCV000458347	p.Val347Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479997C>G	ClinVar
rs1476325987	p.Lys348Arg	missense variant	-	NC_000009.12:g.95479993T>C	gnomAD
RCV000355034	p.Ser350Asn	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95479987C>T	ClinVar
RCV000297800	p.Ser350Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479987C>T	ClinVar
rs779294007	p.Ser350Asn	missense variant	-	NC_000009.12:g.95479987C>T	ExAC,TOPMed,gnomAD
rs1159971759	p.Thr351Ser	missense variant	-	NC_000009.12:g.95479984G>C	gnomAD
rs757579309	p.Lys353Arg	missense variant	-	NC_000009.12:g.95479978T>C	ExAC,TOPMed,gnomAD
RCV000564867	p.Lys353Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95479978T>C	ClinVar
RCV000549279	p.Lys353Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479978T>C	ClinVar
RCV000628405	p.Val355Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479973C>T	ClinVar
rs555332902	p.Val355Ile	missense variant	-	NC_000009.12:g.95479973C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764579762	p.Ser356Asn	missense variant	-	NC_000009.12:g.95479969C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser356Thr	missense variant	-	NC_000009.12:g.95479969C>G	NCI-TCGA
rs779204091	p.Ala357Thr	missense variant	-	NC_000009.12:g.95479146C>T	ExAC,gnomAD
COSM6184351	p.Ala357Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95479146C>A	NCI-TCGA Cosmic
rs1302357924	p.Ala359Val	missense variant	-	NC_000009.12:g.95479139G>A	TOPMed
rs199476090	p.Gln361Ter	stop gained	-	NC_000009.12:g.95479134G>A	-
RCV000008696	p.Gln361Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95479134G>A	ClinVar
RCV000485698	p.Met363Ter	frameshift	-	NC_000009.12:g.95479130dup	ClinVar
rs1342698215	p.Met363Val	missense variant	-	NC_000009.12:g.95479128T>C	gnomAD
rs267606984	p.Gln365Ter	stop gained	-	NC_000009.12:g.95479122G>A	1000Genomes,ExAC
rs267606984	p.Gln365Glu	missense variant	-	NC_000009.12:g.95479122G>C	1000Genomes,ExAC
RCV000144436	p.Gln365Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95479122G>A	ClinVar
rs753152792	p.Met367Val	missense variant	-	NC_000009.12:g.95479116T>C	ExAC,gnomAD
rs768024586	p.Lys370Arg	missense variant	-	NC_000009.12:g.95479106T>C	ExAC,gnomAD
RCV000492436	p.Met372Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95479096del	ClinVar
rs144323077	p.Glu374Lys	missense variant	-	NC_000009.12:g.95479095C>T	ESP,ExAC,TOPMed,gnomAD
RCV000294710	p.Glu374Lys	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95479095C>T	ClinVar
RCV000351965	p.Glu374Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479095C>T	ClinVar
rs374145534	p.His375Tyr	missense variant	-	NC_000009.12:g.95479092G>A	ESP,ExAC,TOPMed
NCI-TCGA novel	p.His375Pro	missense variant	-	NC_000009.12:g.95479091T>G	NCI-TCGA
rs863224648	p.Phe376Leu	missense variant	-	NC_000009.12:g.95479087G>C	gnomAD
RCV000198141	p.Phe376Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479087G>C	ClinVar
VAR_007844	p.Phe376Ser	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
rs1463870316	p.Gly378Glu	missense variant	-	NC_000009.12:g.95479082C>T	gnomAD
rs1554699212	p.Tyr379His	missense variant	-	NC_000009.12:g.95479080A>G	-
RCV000556183	p.Tyr379His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479080A>G	ClinVar
RCV000628328	p.Tyr379Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95479080dup	ClinVar
RCV000472279	p.Glu380Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479077C>T	ClinVar
RCV000764848	p.Glu380Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479077C>T	ClinVar
rs772903899	p.Glu380Lys	missense variant	-	NC_000009.12:g.95479077C>T	TOPMed,gnomAD
COSM3780229	p.Ser383Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95479067G>A	NCI-TCGA Cosmic
rs1220687550	p.His384Arg	missense variant	-	NC_000009.12:g.95479064T>C	TOPMed
rs200246772	p.His384Gln	missense variant	-	NC_000009.12:g.95479063G>T	TOPMed
RCV000568618	p.His384Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95479063G>T	ClinVar
RCV000440703	p.Ile385Val	missense variant	-	NC_000009.12:g.95479062T>C	ClinVar
rs977358021	p.Ile385Val	missense variant	-	NC_000009.12:g.95479062T>C	TOPMed
RCV000473492	p.Asn386Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95479060del	ClinVar
rs1244878972	p.Asn386Tyr	missense variant	-	NC_000009.12:g.95479059T>A	gnomAD
RCV000705758	p.Asn386Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479058T>C	ClinVar
NCI-TCGA novel	p.Asn388Lys	missense variant	-	NC_000009.12:g.95479051G>C	NCI-TCGA
NCI-TCGA novel	p.Glu389Asp	missense variant	-	NC_000009.12:g.95479048C>A	NCI-TCGA
NCI-TCGA novel	p.Asp390Gly	missense variant	-	NC_000009.12:g.95479046T>C	NCI-TCGA
RCV000628358	p.Lys391Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479043T>C	ClinVar
rs1554699163	p.Lys391Arg	missense variant	-	NC_000009.12:g.95479043T>C	-
COSM3909221	p.Ala392Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95479040G>A	NCI-TCGA Cosmic
rs199476091	p.Ala393Thr	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95479038C>T	UniProt,dbSNP
VAR_032952	p.Ala393Thr	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95479038C>T	UniProt
rs199476091	p.Ala393Thr	missense variant	-	NC_000009.12:g.95479038C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202020837	p.Ala393Val	missense variant	-	NC_000009.12:g.95479037G>A	1000Genomes,ExAC,gnomAD
RCV000532256	p.Ala393Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479038C>T	ClinVar
rs139498131	p.Ile395Val	missense variant	-	NC_000009.12:g.95479032T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000561796	p.Ile395Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95479032T>C	ClinVar
rs371424684	p.Leu396Val	missense variant	-	NC_000009.12:g.95479029G>C	ESP,ExAC,TOPMed,gnomAD
RCV000122995	p.Leu396Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479029G>C	ClinVar
RCV000697396	p.Glu397Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95479023_95479030del	ClinVar
rs375098989	p.Ala398Val	missense variant	-	NC_000009.12:g.95479022G>A	ESP,ExAC,gnomAD
rs937023804	p.Ala398Thr	missense variant	-	NC_000009.12:g.95479023C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Trp399Cys	missense variant	-	NC_000009.12:g.95479018C>A	NCI-TCGA
rs1277111019	p.Gln400His	missense variant	-	NC_000009.12:g.95479015C>A	TOPMed,gnomAD
rs1343556333	p.Gln400Arg	missense variant	-	NC_000009.12:g.95479016T>C	gnomAD
COSM3909217	p.Gln400Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95479017G>A	NCI-TCGA Cosmic
COSM3909213	p.Arg401Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95479013C>A	NCI-TCGA Cosmic
rs1432645175	p.Tyr403Ter	stop gained	-	NC_000009.12:g.95479006A>C	TOPMed
RCV000628408	p.Tyr403Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95479006A>C	ClinVar
rs1349048226	p.Tyr403His	missense variant	-	NC_000009.12:g.95479008A>G	TOPMed,gnomAD
RCV000628346	p.Tyr403His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95479008A>G	ClinVar
RCV000464019	p.Tyr403Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95479006_95479007AT[1]	ClinVar
NCI-TCGA novel	p.Glu405Lys	missense variant	-	NC_000009.12:g.95479002C>T	NCI-TCGA
NCI-TCGA novel	p.Glu405Val	missense variant	-	NC_000009.12:g.95479001T>A	NCI-TCGA
rs756949381	p.Val406Met	missense variant	-	NC_000009.12:g.95478186C>T	ExAC,gnomAD
rs763941524	p.His408Arg	missense variant	-	NC_000009.12:g.95478179T>C	ExAC,TOPMed,gnomAD
rs370354759	p.Ala412Thr	missense variant	-	NC_000009.12:g.95478168C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000531450	p.Ala412Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478168C>T	ClinVar
RCV000429084	p.Ala412Ser	missense variant	-	NC_000009.12:g.95478168C>A	ClinVar
rs370354759	p.Ala412Ser	missense variant	-	NC_000009.12:g.95478168C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370354759	p.Ala412Pro	missense variant	-	NC_000009.12:g.95478168C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000761046	p.Ala412Thr	missense variant	Germinoma	NC_000009.12:g.95478168C>T	ClinVar
rs975634341	p.Gln413Arg	missense variant	-	NC_000009.12:g.95478164T>C	TOPMed,gnomAD
RCV000628345	p.Thr416Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478155G>A	ClinVar
rs952195482	p.Thr416Ala	missense variant	-	NC_000009.12:g.95478156T>C	TOPMed,gnomAD
rs201174718	p.Thr416Ile	missense variant	-	NC_000009.12:g.95478155G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000121905	p.Thr416Ser	missense variant	-	NC_000009.12:g.95478155G>C	ClinVar
RCV000572981	p.Thr416Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95478155G>A	ClinVar
rs201174718	p.Thr416Ser	missense variant	-	NC_000009.12:g.95478155G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000543933	p.Thr416Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478156T>C	ClinVar
rs1060502270	p.Gln417Arg	missense variant	-	NC_000009.12:g.95478152T>C	-
RCV000476992	p.Gln417Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478152T>C	ClinVar
rs1227338966	p.Lys418Asn	missense variant	-	NC_000009.12:g.95478148C>A	gnomAD
rs202136156	p.Val419Met	missense variant	-	NC_000009.12:g.95478147C>T	1000Genomes,ExAC,gnomAD
RCV000549979	p.Ser421Phe	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478140G>A	ClinVar
rs1285775586	p.Ser421Phe	missense variant	-	NC_000009.12:g.95478140G>A	gnomAD
rs1285775586	p.Ser421Cys	missense variant	-	NC_000009.12:g.95478140G>C	gnomAD
rs1339832074	p.Thr423Pro	missense variant	-	NC_000009.12:g.95478135T>G	gnomAD
rs1296267604	p.Thr424Pro	missense variant	-	NC_000009.12:g.95478132T>G	gnomAD
RCV000198359	p.Thr425Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478128G>A	ClinVar
rs768956985	p.Thr425Met	missense variant	-	NC_000009.12:g.95478128G>A	ExAC,gnomAD
RCV000534434	p.Thr426Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478125G>A	ClinVar
rs755787454	p.Thr426Ile	missense variant	-	NC_000009.12:g.95478125G>A	-
COSM1111514	p.Thr426Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95478126T>C	NCI-TCGA Cosmic
rs1554698835	p.Asp428Gly	missense variant	-	NC_000009.12:g.95478119T>C	-
RCV000551477	p.Asp428Gly	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478119T>C	ClinVar
rs377546733	p.Asp429Asn	missense variant	-	NC_000009.12:g.95478117C>T	ESP,ExAC,TOPMed,gnomAD
RCV000233892	p.Asp429Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478117C>T	ClinVar
RCV000705906	p.Leu431Pro	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478110A>G	ClinVar
RCV000704987	p.Lys432Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478106T>A	ClinVar
rs778455544	p.Ser433Tyr	missense variant	-	NC_000009.12:g.95478104G>T	ExAC,gnomAD
rs142274954	p.Asp436Asn	missense variant	-	NC_000009.12:g.95478096C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000475074	p.Asp436Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95478094del	ClinVar
rs148471237	p.Asp436Glu	missense variant	-	NC_000009.12:g.95478094G>T	ESP,ExAC,TOPMed,gnomAD
RCV000548435	p.Asp436Glu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478094G>T	ClinVar
RCV000201284	p.Asp436Asn	missense variant	Hirschsprung disease 1 (HSCR1)	NC_000009.12:g.95478096C>T	ClinVar
RCV000539937	p.Asp436Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95478095dup	ClinVar
rs1293146883	p.Val437Ile	missense variant	-	NC_000009.12:g.95478093C>T	TOPMed
RCV000628380	p.Ile440Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478084T>C	ClinVar
rs752530755	p.Ile440Val	missense variant	-	NC_000009.12:g.95478084T>C	ExAC,TOPMed,gnomAD
RCV000626073	p.Arg441His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478080C>T	ClinVar
rs767273237	p.Arg441His	missense variant	-	NC_000009.12:g.95478080C>T	ExAC,TOPMed,gnomAD
COSM1464047	p.Arg441Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95478081G>A	NCI-TCGA Cosmic
RCV000528982	p.Val442Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478078C>T	ClinVar
rs759493890	p.Val442Met	missense variant	-	NC_000009.12:g.95478078C>T	ExAC,TOPMed,gnomAD
rs759493890	p.Val442Leu	missense variant	-	NC_000009.12:g.95478078C>A	ExAC,TOPMed,gnomAD
RCV000564856	p.Val442Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95478078C>A	ClinVar
rs878853845	p.Ala443Val	missense variant	-	NC_000009.12:g.95478074G>A	-
rs878853845	p.Ala443Gly	missense variant	-	NC_000009.12:g.95478074G>C	-
rs878853845	p.Ala443Gly	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95478074G>C	UniProt,dbSNP
VAR_032953	p.Ala443Gly	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95478074G>C	UniProt
RCV000228642	p.Ala443Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478074G>A	ClinVar
rs373930674	p.Ser444Arg	missense variant	-	NC_000009.12:g.95478070G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000206300	p.Ser444Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95478074del	ClinVar
RCV000492240	p.Gly445Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95478069del	ClinVar
rs537871675	p.Leu448Ile	missense variant	-	NC_000009.12:g.95478060G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000564480	p.Leu448Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95478060G>T	ClinVar
RCV000700449	p.Leu448Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95478058_95478061del	ClinVar
RCV000628385	p.Leu448Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95478060G>T	ClinVar
rs776771009	p.Met449Ile	missense variant	-	NC_000009.12:g.95478055C>A	ExAC,gnomAD
rs1423684260	p.Met449Val	missense variant	-	NC_000009.12:g.95478057T>C	gnomAD
rs1423684260	p.Met449Leu	missense variant	-	NC_000009.12:g.95478057T>G	gnomAD
rs142791675	p.Ala451Thr	missense variant	-	NC_000009.12:g.95477699C>T	ESP,ExAC,TOPMed,gnomAD
RCV000468805	p.Ala451Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477699C>T	ClinVar
NCI-TCGA novel	p.Ala451ProPheSerTerUnk	frameshift	-	NC_000009.12:g.95477699C>-	NCI-TCGA
rs1255345516	p.Tyr452Cys	missense variant	-	NC_000009.12:g.95477695T>C	gnomAD
RCV000698777	p.Ala453Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95477694_95477697dup	ClinVar
rs900926173	p.Leu455Val	missense variant	-	NC_000009.12:g.95477687G>C	TOPMed,gnomAD
rs779885444	p.Arg459Cys	missense variant	-	NC_000009.12:g.95477675G>A	ExAC,gnomAD
rs140537949	p.Arg459His	missense variant	-	NC_000009.12:g.95477674C>T	ESP,ExAC,TOPMed,gnomAD
RCV000492113	p.Trp460Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95477671C>T	ClinVar
rs1131690974	p.Trp460Ter	stop gained	-	NC_000009.12:g.95477671C>T	-
rs750404832	p.Asp461Asn	missense variant	-	NC_000009.12:g.95477669C>T	ExAC,gnomAD
RCV000567180	p.Ser463Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95477662G>C	ClinVar
rs764195249	p.Ser463Cys	missense variant	-	NC_000009.12:g.95477662G>C	ExAC,gnomAD
rs756171491	p.Lys464Arg	missense variant	-	NC_000009.12:g.95477659T>C	ExAC,TOPMed,gnomAD
rs1301633215	p.Gln466Arg	missense variant	-	NC_000009.12:g.95477653T>C	gnomAD
rs1467995355	p.Gly467Ser	missense variant	-	NC_000009.12:g.95477651C>T	gnomAD
rs752908793	p.Ala468Ser	missense variant	-	NC_000009.12:g.95477648C>A	ExAC,gnomAD
rs1438523462	p.Val469Leu	missense variant	-	NC_000009.12:g.95477645C>A	gnomAD
rs1438523462	p.Val469Met	missense variant	-	NC_000009.12:g.95477645C>T	gnomAD
RCV000657534	p.Val469Ter	frameshift	-	NC_000009.12:g.95477629_95477647del	ClinVar
RCV000695753	p.Gly470Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477642C>T	ClinVar
rs899465701	p.Ala472Ser	missense variant	-	NC_000009.12:g.95477636C>A	-
RCV000628334	p.Ala472Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477636C>A	ClinVar
RCV000704375	p.Gly473Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95477634_95477637AGCC[1]	ClinVar
rs766898310	p.Val474Ile	missense variant	-	NC_000009.12:g.95477630C>T	ExAC,TOPMed,gnomAD
rs1179872401	p.Val474Gly	missense variant	-	NC_000009.12:g.95477629A>C	gnomAD
RCV000472706	p.Val474Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477630C>T	ClinVar
rs773882662	p.Ala478Ser	missense variant	-	NC_000009.12:g.95477618C>A	ExAC,gnomAD
rs1216069882	p.Ala483Gly	missense variant	-	NC_000009.12:g.95477602G>C	gnomAD
NCI-TCGA novel	p.Gly484Ter	stop gained	-	NC_000009.12:g.95477600C>A	NCI-TCGA
RCV000492484	p.Cys488Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95477588A>G	ClinVar
rs1131690999	p.Cys488Arg	missense variant	-	NC_000009.12:g.95477588A>G	-
rs1239974947	p.Leu490Phe	missense variant	-	NC_000009.12:g.95477580C>G	gnomAD
rs768183391	p.Ile491Met	missense variant	-	NC_000009.12:g.95477577G>C	ExAC,TOPMed,gnomAD
RCV000540664	p.Ile491Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477577G>C	ClinVar
NCI-TCGA novel	p.Gly492Arg	missense variant	-	NC_000009.12:g.95477576C>T	NCI-TCGA
rs1057515719	p.Ser494Ala	missense variant	-	NC_000009.12:g.95477570A>C	-
RCV000322928	p.Ser494Ala	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95477570A>C	ClinVar
RCV000379807	p.Ser494Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477570A>C	ClinVar
rs1465597890	p.Phe495Ser	missense variant	-	NC_000009.12:g.95477566A>G	TOPMed,gnomAD
RCV000553155	p.Phe495Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95477567del	ClinVar
rs1273841207	p.Phe495Val	missense variant	-	NC_000009.12:g.95477567A>C	TOPMed
rs1398130707	p.Ala497Thr	missense variant	-	NC_000009.12:g.95477561C>T	gnomAD
RCV000529142	p.Ala497Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477561C>T	ClinVar
rs1298115628	p.Thr499Ile	missense variant	-	NC_000009.12:g.95477554G>A	TOPMed,gnomAD
rs1085307511	p.Gln501His	missense variant	-	NC_000009.12:g.95477547C>G	-
RCV000201252	p.Gln501Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477548T>C	ClinVar
rs863225054	p.Gln501Arg	missense variant	-	NC_000009.12:g.95477548T>C	-
NCI-TCGA novel	p.Gln501Glu	missense variant	-	NC_000009.12:g.95477549G>C	NCI-TCGA
RCV000628424	p.Gln501His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95477547C>G	ClinVar
VAR_020846	p.Phe505_Leu506delinsLeuArg	deletion_insertion	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
NCI-TCGA novel	p.Leu506Val	missense variant	-	NC_000009.12:g.95476845G>C	NCI-TCGA
rs1212879470	p.Ala507Val	missense variant	-	NC_000009.12:g.95476841G>A	gnomAD
RCV000564332	p.Ala507Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95476842C>T	ClinVar
rs745669155	p.Ala507Thr	missense variant	-	NC_000009.12:g.95476842C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala507Asp	missense variant	-	NC_000009.12:g.95476841G>T	NCI-TCGA
RCV000688021	p.Ala507Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476842C>T	ClinVar
RCV000477105	p.Gly509Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476835C>T	ClinVar
VAR_010974	p.Gly509Arg	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
VAR_010975	p.Gly509Val	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
rs770758782	p.Val510Ile	missense variant	-	NC_000009.12:g.95476833C>T	ExAC
RCV000770977	p.Asp513Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476823T>A	ClinVar
VAR_010976	p.Asp513Tyr	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
COSM3909205	p.Asp514Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95476820T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp514Ala	missense variant	-	NC_000009.12:g.95476820T>G	NCI-TCGA
RCV000414160	p.Val515Asp	missense variant	-	NC_000009.12:g.95476817A>T	ClinVar
rs1057518491	p.Val515Asp	missense variant	-	NC_000009.12:g.95476817A>T	-
RCV000628430	p.Phe516Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476815A>C	ClinVar
rs1554698288	p.Phe516Val	missense variant	-	NC_000009.12:g.95476815A>C	-
rs1554698275	p.Ala519Tyr	missense variant	-	NC_000009.12:g.95476805_95476806delinsTA	-
RCV000628359	p.Ala519Tyr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476805_95476806delinsTA	ClinVar
rs755139183	p.Ala521Val	missense variant	-	NC_000009.12:g.95476799G>A	ExAC,gnomAD
RCV000628400	p.Ala521Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476799G>A	ClinVar
rs781101191	p.Ala521Thr	missense variant	-	NC_000009.12:g.95476800C>T	ExAC,gnomAD
rs751778283	p.Ser523Thr	missense variant	-	NC_000009.12:g.95476793C>G	ExAC,gnomAD
rs1554698260	p.Gln527Ter	stop gained	-	NC_000009.12:g.95476782G>A	-
RCV000622493	p.Gln527Ter	nonsense	Inborn genetic diseases	NC_000009.12:g.95476782G>A	ClinVar
RCV000530509	p.Asn528Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476779dup	ClinVar
rs780434261	p.Lys529Glu	missense variant	-	NC_000009.12:g.95476776T>C	ExAC,gnomAD
RCV000473218	p.Lys529Glu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476776T>C	ClinVar
rs780434261	p.Lys529Ter	stop gained	-	NC_000009.12:g.95476776T>A	ExAC,gnomAD
RCV000440834	p.Lys529Ter	nonsense	-	NC_000009.12:g.95476776T>A	ClinVar
COSM1111506	p.Arg530Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95476772C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg530Lys	missense variant	-	NC_000009.12:g.95476772C>T	NCI-TCGA
rs1227526379	p.Ile531Thr	missense variant	-	NC_000009.12:g.95476769A>G	gnomAD
RCV000702109	p.Ile531Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476769A>G	ClinVar
RCV000201254	p.Ile531Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476762_95476772del	ClinVar
rs921410017	p.Pro532Arg	missense variant	-	NC_000009.12:g.95476766G>C	TOPMed
NCI-TCGA novel	p.Pro532Thr	missense variant	-	NC_000009.12:g.95476767G>T	NCI-TCGA
rs1318015818	p.Phe533Ser	missense variant	-	NC_000009.12:g.95476763A>G	TOPMed
rs1318015818	p.Phe533Cys	missense variant	-	NC_000009.12:g.95476763A>C	TOPMed
RCV000628431	p.Phe533Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476763A>G	ClinVar
rs1323512738	p.Glu534Gln	missense variant	-	NC_000009.12:g.95476761C>G	gnomAD
NCI-TCGA novel	p.Glu534Ter	stop gained	-	NC_000009.12:g.95476761C>A	NCI-TCGA
COSM3849175	p.Asp535Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95476159C>A	NCI-TCGA Cosmic
rs1187247122	p.Arg536Gly	missense variant	-	NC_000009.12:g.95476156T>C	gnomAD
rs1441245268	p.Arg536Lys	missense variant	-	NC_000009.12:g.95476155C>T	gnomAD
rs1347882326	p.Gly538Arg	missense variant	-	NC_000009.12:g.95476150C>T	gnomAD
RCV000231863	p.Glu539Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476150del	ClinVar
RCV000477982	p.Glu539Ter	frameshift	-	NC_000009.12:g.95476150dup	ClinVar
RCV000434399	p.Glu539Ter	frameshift	-	NC_000009.12:g.95476150del	ClinVar
rs758673714	p.Lys542Arg	missense variant	-	NC_000009.12:g.95476137T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys542Ter	stop gained	-	NC_000009.12:g.95476138T>A	NCI-TCGA
rs150284288	p.Arg543Leu	missense variant	-	NC_000009.12:g.95476134C>A	ESP,ExAC,TOPMed,gnomAD
RCV000459756	p.Arg543His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476134C>T	ClinVar
rs137903539	p.Arg543Cys	missense variant	-	NC_000009.12:g.95476135G>A	ESP,ExAC,gnomAD
rs137903539	p.Arg543Ser	missense variant	-	NC_000009.12:g.95476135G>T	ESP,ExAC,gnomAD
rs150284288	p.Arg543His	missense variant	-	NC_000009.12:g.95476134C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly545Ter	stop gained	-	NC_000009.12:g.95476129C>A	NCI-TCGA
RCV000707044	p.Ser547Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476122C>A	ClinVar
rs575035810	p.Val548Met	missense variant	-	NC_000009.12:g.95476120C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs575035810	p.Val548Leu	missense variant	-	NC_000009.12:g.95476120C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val548LysPheSerTerUnk	frameshift	-	NC_000009.12:g.95476123_95476124insCAGTCATTTATTTTCTTGGA	NCI-TCGA
rs759078774	p.Ala549Val	missense variant	-	NC_000009.12:g.95476116G>A	ExAC,gnomAD
rs774082990	p.Thr551Ala	missense variant	-	NC_000009.12:g.95476111T>C	ExAC
RCV000195516	p.Thr551Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476110G>A	ClinVar
RCV000628376	p.Thr551Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476111dup	ClinVar
rs863224649	p.Thr551Met	missense variant	-	NC_000009.12:g.95476110G>A	-
rs1163102757	p.Ser552Cys	missense variant	-	NC_000009.12:g.95476107G>C	gnomAD
rs148367880	p.Ser554Asn	missense variant	-	NC_000009.12:g.95476101C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1060502282	p.Ser554Cys	missense variant	-	NC_000009.12:g.95476102T>A	gnomAD
RCV000197370	p.Ser554Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476101C>T	ClinVar
RCV000464727	p.Ser554Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476102T>A	ClinVar
RCV000492139	p.Asn555Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95476098T>C	ClinVar
rs181192122	p.Asn555Ser	missense variant	-	NC_000009.12:g.95476098T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1064795375	p.AsnVal555AsnIle	missense variant	-	NC_000009.12:g.95476096_95476097inv	-
RCV000204428	p.Asn555Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476098T>C	ClinVar
rs1318405179	p.Val556Ile	missense variant	-	NC_000009.12:g.95476096C>T	gnomAD
RCV000485696	p.Val556Ile	missense variant	-	NC_000009.12:g.95476096_95476097inv	ClinVar
rs772312984	p.Thr557Ala	missense variant	-	NC_000009.12:g.95476093T>C	ExAC,TOPMed,gnomAD
RCV000704364	p.Phe560Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476083A>G	ClinVar
rs1332335605	p.Met561Val	missense variant	-	NC_000009.12:g.95476081T>C	gnomAD
rs146616780	p.Ala563Ser	missense variant	-	NC_000009.12:g.95476075C>A	ESP,ExAC,gnomAD
rs146616780	p.Ala563Thr	missense variant	-	NC_000009.12:g.95476075C>T	ESP,ExAC,gnomAD
COSM24853	p.Ala563Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95476074G>A	NCI-TCGA Cosmic
RCV000688097	p.Ile565Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95476067G>C	ClinVar
rs778170244	p.Ile565Val	missense variant	-	NC_000009.12:g.95476069T>C	ExAC,gnomAD
rs200504753	p.Ile567Val	missense variant	-	NC_000009.12:g.95476063T>C	1000Genomes,ESP,ExAC,gnomAD
COSM96963	p.Pro568Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95476059G>A	NCI-TCGA Cosmic
rs766973191	p.Ala569Val	missense variant	-	NC_000009.12:g.95476056G>A	ExAC,gnomAD
rs753240797	p.Ala569Thr	missense variant	-	NC_000009.12:g.95476057C>T	ExAC
RCV000700190	p.Ala569Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476060del	ClinVar
RCV000550512	p.Leu570Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95476044_95476056del	ClinVar
rs377566861	p.Arg571Gln	missense variant	-	NC_000009.12:g.95476050C>T	ESP,ExAC,gnomAD
rs1420410274	p.Arg571Trp	missense variant	-	NC_000009.12:g.95476051G>A	gnomAD
rs1485556285	p.Ala572Val	missense variant	-	NC_000009.12:g.95476047G>A	TOPMed
COSM17467	p.Gln576Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95476036G>A	NCI-TCGA Cosmic
rs1554695631	p.Ala577Thr	missense variant	-	NC_000009.12:g.95469931C>T	-
RCV000549859	p.Ala577Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469931C>T	ClinVar
rs960630296	p.Ala578Val	missense variant	-	NC_000009.12:g.95469927G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala578ArgPheSerTerUnk	frameshift	-	NC_000009.12:g.95469929T>-	NCI-TCGA
rs751708515	p.Val579Ile	missense variant	-	NC_000009.12:g.95469925C>T	ExAC,gnomAD
rs777030659	p.Val581Ala	missense variant	-	NC_000009.12:g.95469918A>G	ExAC,gnomAD
rs1468340502	p.Val581Met	missense variant	-	NC_000009.12:g.95469919C>T	gnomAD
rs1186348167	p.Val582Ala	missense variant	-	NC_000009.12:g.95469915A>G	TOPMed
rs1554695616	p.Phe583Val	missense variant	-	NC_000009.12:g.95469913A>C	-
rs1215914099	p.Phe583Leu	missense variant	-	NC_000009.12:g.95469911G>C	gnomAD
RCV000561535	p.Phe583Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469913A>C	ClinVar
NCI-TCGA novel	p.Asn584LeuLeuLeuLysAlaLysPheArgIle	insertion	-	NC_000009.12:g.95469908_95469909insATCCTAAATTTGGCTTTCAAAAGCAAG	NCI-TCGA
RCV000525712	p.Phe585Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95469903_95469905delinsCC	ClinVar
rs1247050005	p.Phe585Cys	missense variant	-	NC_000009.12:g.95469906A>C	TOPMed
NCI-TCGA novel	p.Phe585Val	missense variant	-	NC_000009.12:g.95469907A>C	NCI-TCGA
NCI-TCGA novel	p.Met587TrpPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95469902G>-	NCI-TCGA
rs1472804824	p.Val588Ile	missense variant	-	NC_000009.12:g.95469898C>T	TOPMed
RCV000760989	p.Leu589Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95469897del	ClinVar
COSM3909193	p.Leu590Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95469892G>A	NCI-TCGA Cosmic
COSM1464024	p.Pro593LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95469884A>-	NCI-TCGA Cosmic
rs1324112215	p.Asp599Gly	missense variant	-	NC_000009.12:g.95469864T>C	gnomAD
COSM3659813	p.Leu600Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95469860T>A	NCI-TCGA Cosmic
rs863224650	p.Arg602Ter	stop gained	-	NC_000009.12:g.95469856G>A	TOPMed
RCV000492414	p.Arg602Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469856G>A	ClinVar
rs1382474804	p.Arg602Gln	missense variant	-	NC_000009.12:g.95469855C>T	gnomAD
rs199523893	p.Arg603His	missense variant	-	NC_000009.12:g.95469852C>T	ExAC,TOPMed,gnomAD
RCV000315597	p.Arg603His	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95469852C>T	ClinVar
RCV000628418	p.Glu604Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469850C>T	ClinVar
rs778627715	p.Glu604Lys	missense variant	-	NC_000009.12:g.95469850C>T	ExAC,gnomAD
rs756951491	p.Glu604Ala	missense variant	-	NC_000009.12:g.95469849T>G	ExAC,gnomAD
COSM422302	p.Glu604Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95469850C>G	NCI-TCGA Cosmic
rs748991295	p.Arg606Lys	missense variant	-	NC_000009.12:g.95469843C>T	ExAC
NCI-TCGA novel	p.Asp609Asn	missense variant	-	NC_000009.12:g.95469835C>T	NCI-TCGA
rs1234183663	p.Ile610Thr	missense variant	-	NC_000009.12:g.95469831A>G	TOPMed,gnomAD
RCV000628422	p.Ile610Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469831A>G	ClinVar
NCI-TCGA novel	p.Ile610Met	missense variant	-	NC_000009.12:g.95469830A>C	NCI-TCGA
rs777587539	p.Cys612Phe	missense variant	-	NC_000009.12:g.95469825C>A	ExAC,TOPMed,gnomAD
RCV000573502	p.Cys612Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469825C>A	ClinVar
rs948568790	p.Cys613Arg	missense variant	-	NC_000009.12:g.95469823A>G	TOPMed,gnomAD
RCV000527333	p.Cys613Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469823A>G	ClinVar
RCV000492209	p.Phe614Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469821del	ClinVar
RCV000686093	p.Phe614Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469820A>G	ClinVar
rs1193948667	p.Phe614Val	missense variant	-	NC_000009.12:g.95469820A>C	gnomAD
RCV000492306	p.Ser616Gly	missense variant	Inborn genetic diseases	NC_000009.12:g.95469814T>C	ClinVar
rs1131690983	p.Ser616Gly	missense variant	-	NC_000009.12:g.95469814T>C	-
rs1060502266	p.Val619Ile	missense variant	-	NC_000009.12:g.95469146C>T	TOPMed,gnomAD
RCV000456193	p.Val619Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469146C>T	ClinVar
rs181138950	p.Ser620Asn	missense variant	-	NC_000009.12:g.95469142C>T	1000Genomes,ExAC,gnomAD
rs751536947	p.Arg621Thr	missense variant	-	NC_000009.12:g.95469139C>G	ExAC,gnomAD
rs765258547	p.Val622Leu	missense variant	-	NC_000009.12:g.95469137C>G	ExAC,TOPMed,gnomAD
rs1175793715	p.Val625Asp	missense variant	-	NC_000009.12:g.95469127A>T	gnomAD
rs1060502274	p.Gln628Ter	stop gained	-	NC_000009.12:g.95469119G>A	-
RCV000470850	p.Gln628Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95469119G>A	ClinVar
RCV000628398	p.Ala629Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95469117del	ClinVar
rs1435626556	p.Ala629Val	missense variant	-	NC_000009.12:g.95469115G>A	gnomAD
rs727504112	p.Thr631Ile	missense variant	-	NC_000009.12:g.95469109G>A	TOPMed
RCV000539650	p.Thr631Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469109G>A	ClinVar
RCV000153789	p.Thr631Ile	missense variant	-	NC_000009.12:g.95469109G>A	ClinVar
rs559293815	p.Asp632Asn	missense variant	-	NC_000009.12:g.95469107C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000657347	p.Asp632Ter	frameshift	-	NC_000009.12:g.95469103_95469112del	ClinVar
RCV000628395	p.Asp632Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469107C>T	ClinVar
rs764218645	p.His634Tyr	missense variant	-	NC_000009.12:g.95469101G>A	ExAC,gnomAD
rs372555269	p.Asp635Tyr	missense variant	-	NC_000009.12:g.95469098C>A	ESP,ExAC,TOPMed,gnomAD
RCV000552271	p.Asp635Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469098C>T	ClinVar
rs200321717	p.Asp635Gly	missense variant	-	NC_000009.12:g.95469097T>C	1000Genomes
rs372555269	p.Asp635Asn	missense variant	-	NC_000009.12:g.95469098C>T	ESP,ExAC,TOPMed,gnomAD
rs200321717	p.Asp635Val	missense variant	-	NC_000009.12:g.95469097T>A	1000Genomes
rs1390308281	p.Asn636Tyr	missense variant	-	NC_000009.12:g.95469095T>A	TOPMed
rs369090032	p.Thr637Ile	missense variant	-	NC_000009.12:g.95469091G>A	ESP,TOPMed,gnomAD
RCV000545851	p.Arg638Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469089G>A	ClinVar
rs1053507002	p.Arg638Cys	missense variant	-	NC_000009.12:g.95469089G>A	TOPMed,gnomAD
rs145766839	p.Arg638His	missense variant	-	NC_000009.12:g.95469088C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000756577	p.Arg638His	missense variant	-	NC_000009.12:g.95469088C>T	ClinVar
rs775023150	p.Tyr639His	missense variant	-	NC_000009.12:g.95469086A>G	ExAC,TOPMed,gnomAD
rs762371629	p.Pro642Leu	missense variant	-	NC_000009.12:g.95469076G>A	ExAC,gnomAD
rs762371629	p.Pro642Gln	missense variant	-	NC_000009.12:g.95469076G>T	ExAC,gnomAD
RCV000628392	p.Pro642Gln	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469076G>T	ClinVar
rs1165662230	p.Pro643Leu	missense variant	-	NC_000009.12:g.95469073G>A	gnomAD
rs1353450809	p.Pro644His	missense variant	-	NC_000009.12:g.95469070G>T	gnomAD
RCV000466049	p.Tyr645Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469067T>C	ClinVar
rs772841736	p.Tyr645Cys	missense variant	-	NC_000009.12:g.95469067T>C	ExAC,TOPMed,gnomAD
rs554636683	p.Ser646Thr	missense variant	-	NC_000009.12:g.95469064C>G	1000Genomes,ExAC,gnomAD
rs149762881	p.His648Asp	missense variant	-	NC_000009.12:g.95469059G>C	ESP,ExAC,TOPMed,gnomAD
rs1402828019	p.His648Leu	missense variant	-	NC_000009.12:g.95469058T>A	gnomAD
RCV000167878	p.His648Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469059G>C	ClinVar
rs375049109	p.Ser649Gly	missense variant	-	NC_000009.12:g.95469056T>C	ESP,ExAC,TOPMed,gnomAD
RCV000568417	p.Ser649Gly	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469056T>C	ClinVar
RCV000701978	p.Ser649Gly	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469056T>C	ClinVar
rs1420640611	p.His652Arg	missense variant	-	NC_000009.12:g.95469046T>C	TOPMed,gnomAD
rs1035631674	p.His652Tyr	missense variant	-	NC_000009.12:g.95469047G>A	gnomAD
RCV000529742	p.Glu653Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469043T>A	ClinVar
rs1554695145	p.Glu653Val	missense variant	-	NC_000009.12:g.95469043T>A	-
rs746898855	p.Thr654Met	missense variant	-	NC_000009.12:g.95469040G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln655His	missense variant	-	NC_000009.12:g.95469036C>A	NCI-TCGA
RCV000699389	p.Thr657Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469032T>A	ClinVar
rs1448553293	p.Met658Val	missense variant	-	NC_000009.12:g.95469029T>C	gnomAD
rs1268572514	p.Gln659Glu	missense variant	-	NC_000009.12:g.95469026G>C	gnomAD
rs753850577	p.Thr661Ala	missense variant	-	NC_000009.12:g.95469020T>C	ExAC,TOPMed,gnomAD
rs1332668908	p.Val662Ile	missense variant	-	NC_000009.12:g.95469017C>T	gnomAD
rs756263511	p.Val662Ala	missense variant	-	NC_000009.12:g.95469016A>G	ExAC,gnomAD
rs753002023	p.Gln663His	missense variant	-	NC_000009.12:g.95469012C>G	ExAC,TOPMed,gnomAD
RCV000563327	p.Gln663His	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469012C>G	ClinVar
RCV000764847	p.Gln663His	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95469012C>G	ClinVar
NCI-TCGA novel	p.Gln663Arg	missense variant	-	NC_000009.12:g.95469013T>C	NCI-TCGA
RCV000230002	p.Gln663His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469012C>G	ClinVar
RCV000685314	p.Leu664Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469011G>C	ClinVar
rs139705799	p.Arg665His	missense variant	-	NC_000009.12:g.95469007C>T	ESP,ExAC,TOPMed,gnomAD
rs139705799	p.Arg665Leu	missense variant	-	NC_000009.12:g.95469007C>A	ESP,ExAC,TOPMed,gnomAD
rs767947110	p.Arg665Cys	missense variant	-	NC_000009.12:g.95469008G>A	ExAC,TOPMed,gnomAD
RCV000573467	p.Arg665His	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95469007C>T	ClinVar
RCV000232926	p.Arg665His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95469007C>T	ClinVar
rs752043221	p.Thr666Met	missense variant	-	NC_000009.12:g.95469004G>A	ExAC,gnomAD
COSM3909185	p.Tyr668Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468998T>C	NCI-TCGA Cosmic
RCV000628371	p.Asp669Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468996C>T	ClinVar
rs772574714	p.Asp669Asn	missense variant	-	NC_000009.12:g.95468996C>T	ExAC,TOPMed,gnomAD
rs376678753	p.His671Tyr	missense variant	-	NC_000009.12:g.95468990G>A	ESP,ExAC,TOPMed
RCV000277549	p.His671Ter	frameshift	-	NC_000009.12:g.95468994dup	ClinVar
rs372219420	p.Thr672Met	missense variant	-	NC_000009.12:g.95468986G>A	ESP,ExAC,gnomAD
RCV000547194	p.Thr672Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468986G>A	ClinVar
rs1166037534	p.Thr672Ala	missense variant	-	NC_000009.12:g.95468987T>C	gnomAD
rs1184226425	p.His673Asp	missense variant	-	NC_000009.12:g.95468984G>C	gnomAD
rs587780695	p.His673Gln	missense variant	-	NC_000009.12:g.95468982G>T	ExAC,TOPMed,gnomAD
rs1060502291	p.Val674Met	missense variant	-	NC_000009.12:g.95468981C>T	gnomAD
RCV000465814	p.Val674Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468981C>T	ClinVar
rs1192777342	p.Val674Gly	missense variant	-	NC_000009.12:g.95468980A>C	gnomAD
COSM3909181	p.Tyr675His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468978A>G	NCI-TCGA Cosmic
rs1270892737	p.Tyr676His	missense variant	-	NC_000009.12:g.95468975A>G	gnomAD
rs1274998781	p.Tyr676Cys	missense variant	-	NC_000009.12:g.95468974T>C	gnomAD
RCV000559748	p.Tyr676Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468974T>C	ClinVar
RCV000195690	p.Ala679Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468966C>T	ClinVar
rs771882746	p.Ala679Thr	missense variant	-	NC_000009.12:g.95468966C>T	ExAC,TOPMed,gnomAD
COSM17459	p.Pro681Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468959G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro681ArgPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95468959G>-	NCI-TCGA
rs1366288601	p.Arg682His	missense variant	-	NC_000009.12:g.95468956C>T	gnomAD
rs570441437	p.Arg682Cys	missense variant	-	NC_000009.12:g.95468957G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000628369	p.Arg682His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468956C>T	ClinVar
RCV000610815	p.Arg682Cys	missense variant	-	NC_000009.12:g.95468957G>A	ClinVar
rs62637629	p.Glu684Lys	missense variant	-	NC_000009.12:g.95468951C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000607164	p.Glu684Lys	missense variant	-	NC_000009.12:g.95468951C>T	ClinVar
RCV000196458	p.Glu684Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468951C>T	ClinVar
rs1373585633	p.Ser686Phe	missense variant	-	NC_000009.12:g.95468944G>A	gnomAD
rs374691153	p.Val687Met	missense variant	-	NC_000009.12:g.95468942C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755314955	p.Val687Ala	missense variant	-	NC_000009.12:g.95468941A>G	ExAC,gnomAD
RCV000805523	p.Val687Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468942C>T	ClinVar
COSM4935157	p.Val687Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468942C>A	NCI-TCGA Cosmic
RCV000761130	p.Val687Met	missense variant	Acute myeloid leukemia (AML)	NC_000009.12:g.95468942C>T	ClinVar
RCV000535004	p.Gln688Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95468939G>A	ClinVar
rs1554695039	p.Gln688Ter	stop gained	-	NC_000009.12:g.95468939G>A	-
rs751955563	p.Gln688Arg	missense variant	-	NC_000009.12:g.95468938T>C	ExAC,gnomAD
rs766812549	p.Pro689Leu	missense variant	-	NC_000009.12:g.95468935G>A	ExAC
RCV000547340	p.Val690Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468933C>T	ClinVar
rs750970743	p.Val690Ile	missense variant	-	NC_000009.12:g.95468933C>T	ExAC,TOPMed,gnomAD
rs1441109818	p.Thr691Ala	missense variant	-	NC_000009.12:g.95468930T>C	TOPMed,gnomAD
COSM17496	p.Thr691Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468929G>A	NCI-TCGA Cosmic
RCV000483987	p.Thr691Ter	frameshift	-	NC_000009.12:g.95468928_95468929del	ClinVar
rs758487789	p.Val692Met	missense variant	-	NC_000009.12:g.95468927C>T	ExAC,TOPMed,gnomAD
RCV000227159	p.Val692Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468927C>T	ClinVar
COSM3909177	p.Thr693Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468924T>C	NCI-TCGA Cosmic
rs569655753	p.Thr696Ser	missense variant	-	NC_000009.12:g.95468914G>C	1000Genomes,ExAC,gnomAD
rs199892130	p.Leu697His	missense variant	-	NC_000009.12:g.95468911A>T	TOPMed,gnomAD
rs199892130	p.Leu697Arg	missense variant	-	NC_000009.12:g.95468911A>C	TOPMed,gnomAD
COSM5163164	p.Leu697Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468912G>T	NCI-TCGA Cosmic
RCV000034562	p.Leu697Arg	missense variant	-	NC_000009.12:g.95468911A>C	ClinVar
rs763724025	p.Ser698Asn	missense variant	-	NC_000009.12:g.95468908C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser698Ile	missense variant	-	NC_000009.12:g.95468908C>A	NCI-TCGA
rs547829353	p.Cys699Phe	missense variant	-	NC_000009.12:g.95468905C>A	1000Genomes,ExAC,gnomAD
rs1241082201	p.Cys699Gly	missense variant	-	NC_000009.12:g.95468906A>C	TOPMed
rs775235892	p.Ser701Ile	missense variant	-	NC_000009.12:g.95468899C>A	ExAC
RCV000475319	p.Ser701Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468899C>A	ClinVar
rs368362152	p.Pro702Arg	missense variant	-	NC_000009.12:g.95468896G>C	ExAC,TOPMed,gnomAD
RCV000161923	p.Pro702Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468896G>C	ClinVar
COSM5153143	p.Glu703Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468894C>T	NCI-TCGA Cosmic
rs1182895378	p.Ser704Gly	missense variant	-	NC_000009.12:g.95468891T>C	TOPMed
rs140497736	p.Ser706Thr	missense variant	-	NC_000009.12:g.95468884C>G	TOPMed,gnomAD
rs1060502290	p.Thr708Ile	missense variant	-	NC_000009.12:g.95468878G>A	gnomAD
RCV000471331	p.Thr708Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468878G>A	ClinVar
rs774362306	p.Asp710Glu	missense variant	-	NC_000009.12:g.95468871G>T	ExAC,TOPMed,gnomAD
rs1402724349	p.Asp710Gly	missense variant	-	NC_000009.12:g.95468872T>C	TOPMed
rs587780696	p.Leu712Phe	missense variant	-	NC_000009.12:g.95468867G>A	-
RCV000123005	p.Leu712Phe	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468867G>A	ClinVar
RCV000628351	p.Ser713Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468863G>C	ClinVar
RCV000657504	p.Ser713Ter	frameshift	-	NC_000009.12:g.95468866dup	ClinVar
rs1554694963	p.Ser713Cys	missense variant	-	NC_000009.12:g.95468863G>C	-
rs1051496812	p.Gln714Arg	missense variant	-	NC_000009.12:g.95468860T>C	TOPMed
rs1411146165	p.Ser716Cys	missense variant	-	NC_000009.12:g.95468854G>C	gnomAD
RCV000689881	p.Ser716Pro	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468855A>G	ClinVar
rs1311707136	p.Asp717Asn	missense variant	-	NC_000009.12:g.95468852C>T	gnomAD
NCI-TCGA novel	p.Asp717Glu	missense variant	-	NC_000009.12:g.95468850G>T	NCI-TCGA
rs1554694943	p.Leu723Arg	missense variant	-	NC_000009.12:g.95468833A>C	-
RCV000628374	p.Leu723Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468833A>C	ClinVar
rs144501989	p.Glu724Lys	missense variant	-	NC_000009.12:g.95468831C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000524846	p.Glu724Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468829C>G	ClinVar
rs747274181	p.Glu724Asp	missense variant	-	NC_000009.12:g.95468829C>G	ExAC,gnomAD
rs144501989	p.Glu724Gln	missense variant	-	NC_000009.12:g.95468831C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000548990	p.Glu724Gln	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468831C>G	ClinVar
RCV000458908	p.Glu724Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468831C>T	ClinVar
RCV000492416	p.Pro725Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95468828G>A	ClinVar
rs963297092	p.Pro725Arg	missense variant	-	NC_000009.12:g.95468827G>C	TOPMed,gnomAD
rs149258400	p.Pro725Ser	missense variant	-	NC_000009.12:g.95468828G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000457358	p.Pro725Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468827G>C	ClinVar
rs587780697	p.Pro726Arg	missense variant	-	NC_000009.12:g.95468824G>C	ExAC,TOPMed,gnomAD
RCV000563615	p.Pro726Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95468824G>A	ClinVar
RCV000601883	p.Pro726Ser	missense variant	-	NC_000009.12:g.95468825G>A	ClinVar
rs758811078	p.Pro726Ser	missense variant	-	NC_000009.12:g.95468825G>A	ExAC,TOPMed,gnomAD
rs587780697	p.Pro726Leu	missense variant	-	NC_000009.12:g.95468824G>A	ExAC,TOPMed,gnomAD
rs587780697	p.Pro726His	missense variant	-	NC_000009.12:g.95468824G>T	ExAC,TOPMed,gnomAD
RCV000123007	p.Pro726Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468824G>C	ClinVar
RCV000628412	p.Cys727Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468822A>G	ClinVar
COSM17555	p.Cys727LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95468822_95468823insG	NCI-TCGA Cosmic
COSM4718611	p.Cys727ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95468823G>-	NCI-TCGA Cosmic
rs779167673	p.Cys727Arg	missense variant	-	NC_000009.12:g.95468822A>G	ExAC,TOPMed,gnomAD
RCV000206005	p.Thr728Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468818G>A	ClinVar
rs115556836	p.Thr728Met	missense variant	-	NC_000009.12:g.95468818G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1131690992	p.Trp730Ter	stop gained	-	NC_000009.12:g.95468811C>T	-
RCV000492480	p.Trp730Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95468811C>T	ClinVar
rs1229587325	p.Leu732Pro	missense variant	-	NC_000009.12:g.95468806A>G	gnomAD
RCV000492757	p.Ser733Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95468804_95468805AG[1]	ClinVar
rs1311804361	p.Ser733Leu	missense variant	-	NC_000009.12:g.95468803G>A	gnomAD
COSM1111488	p.Ser733Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95468803G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser733Pro	missense variant	-	NC_000009.12:g.95468804A>G	NCI-TCGA
RCV000473031	p.Ser733Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95468804_95468805AG[1]	ClinVar
rs202033167	p.His739Leu	missense variant	-	NC_000009.12:g.95468785T>A	ExAC,TOPMed,gnomAD
RCV000574477	p.His739Phe	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95468785_95468786delinsAA	ClinVar
RCV000460486	p.His739Tyr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468786G>A	ClinVar
RCV000206147	p.His739Phe	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468785_95468786delinsAA	ClinVar
rs200189314	p.His739Tyr	missense variant	-	NC_000009.12:g.95468786G>A	ExAC,TOPMed,gnomAD
rs864622295	p.His739Phe	missense variant	-	NC_000009.12:g.95468785_95468786delinsAA	-
rs1156974460	p.Tyr740Cys	missense variant	-	NC_000009.12:g.95468782T>C	TOPMed
rs774077315	p.Ala741Pro	missense variant	-	NC_000009.12:g.95468780C>G	ExAC,gnomAD
rs2227971	p.Ala741Val	missense variant	-	NC_000009.12:g.95468779G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000123008	p.Ala741Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95468779G>A	ClinVar
RCV000121885	p.Ala741Val	missense variant	-	NC_000009.12:g.95468779G>A	ClinVar
rs1185984575	p.Pro742Leu	missense variant	-	NC_000009.12:g.95468776G>A	TOPMed,gnomAD
rs1185984575	p.Pro742Arg	missense variant	-	NC_000009.12:g.95468776G>C	TOPMed,gnomAD
COSM3909173	p.Leu744Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95468770A>G	NCI-TCGA Cosmic
rs776817244	p.Lys746Asn	missense variant	-	NC_000009.12:g.95468763T>A	ExAC,gnomAD
RCV000722022	p.Ala749Ter	frameshift	Medulloblastoma (MDB)	NC_000009.12:g.95468760del	ClinVar
RCV000693113	p.Ala749Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95468760del	ClinVar
rs1239869539	p.Lys750Glu	missense variant	-	NC_000009.12:g.95468753T>C	TOPMed,gnomAD
VAR_032955	p.Val751Gly	Missense	Holoprosencephaly 7 (HPE7) [MIM:610828]	-	UniProt
COSM3909169	p.Val753Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95467418A>G	NCI-TCGA Cosmic
rs1398517498	p.Leu756Phe	missense variant	-	NC_000009.12:g.95467410G>A	TOPMed
RCV000231046	p.Phe757Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467406A>G	ClinVar
rs547954117	p.Phe757Ser	missense variant	-	NC_000009.12:g.95467406A>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly759Arg	missense variant	-	NC_000009.12:g.95467401C>G	NCI-TCGA
rs544963328	p.Val763Phe	missense variant	-	NC_000009.12:g.95467389C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000764846	p.Val763Phe	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95467389C>A	ClinVar
RCV000628339	p.Val763Phe	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467389C>A	ClinVar
NCI-TCGA novel	p.Tyr766His	missense variant	-	NC_000009.12:g.95467380A>G	NCI-TCGA
RCV000233705	p.Thr768Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467373G>A	ClinVar
rs878853850	p.Thr768Ile	missense variant	-	NC_000009.12:g.95467373G>A	TOPMed,gnomAD
rs755391704	p.Thr769Ile	missense variant	-	NC_000009.12:g.95467370G>A	ExAC,gnomAD
RCV000211475	p.Thr769Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467370G>A	ClinVar
RCV000492631	p.Arg770Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95467368G>A	ClinVar
RCV000477338	p.Arg770Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95467368G>A	ClinVar
rs762942660	p.Arg770Gln	missense variant	-	NC_000009.12:g.95467367C>T	ExAC,TOPMed,gnomAD
rs766313615	p.Arg770Ter	stop gained	-	NC_000009.12:g.95467368G>A	ExAC,TOPMed,gnomAD
rs766313615	p.Arg770Gly	missense variant	-	NC_000009.12:g.95467368G>C	ExAC,TOPMed,gnomAD
rs1357637254	p.Val771Leu	missense variant	-	NC_000009.12:g.95467365C>A	gnomAD
COSM1315050	p.Arg772Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95467361C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu775Met	missense variant	-	NC_000009.12:g.95467353G>T	NCI-TCGA
rs923429610	p.Asp776Glu	missense variant	-	NC_000009.12:g.95467348G>T	TOPMed,gnomAD
RCV000628375	p.Asp776Glu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467348G>T	ClinVar
rs376799601	p.Leu777Val	missense variant	-	NC_000009.12:g.95467347G>C	ESP,ExAC,gnomAD
rs376799601	p.Leu777Phe	missense variant	-	NC_000009.12:g.95467347G>A	ESP,ExAC,gnomAD
rs869025270	p.Thr778Pro	missense variant	-	NC_000009.12:g.95467344T>G	-
RCV000207370	p.Thr778Pro	missense variant	-	NC_000009.12:g.95467344T>G	ClinVar
RCV000461489	p.Thr778Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467343G>A	ClinVar
rs747762028	p.Thr778Met	missense variant	-	NC_000009.12:g.95467343G>A	ExAC,TOPMed,gnomAD
rs1323606391	p.Asp779Asn	missense variant	-	NC_000009.12:g.95467341C>T	gnomAD
rs1388496324	p.Ile780Val	missense variant	-	NC_000009.12:g.95467338T>C	gnomAD
rs1391343996	p.Val781Ile	missense variant	-	NC_000009.12:g.95467335C>T	gnomAD
RCV000467884	p.Pro782Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95467334dup	ClinVar
rs779296683	p.Arg783Gln	missense variant	-	NC_000009.12:g.95467328C>T	ExAC,gnomAD
rs1060502293	p.Arg783Trp	missense variant	-	NC_000009.12:g.95467329G>A	gnomAD
RCV000460901	p.Arg783Trp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467329G>A	ClinVar
RCV000486747	p.Arg783Trp	missense variant	-	NC_000009.12:g.95467329G>A	ClinVar
rs1169417540	p.Glu784Lys	missense variant	-	NC_000009.12:g.95467326C>T	gnomAD
rs1159846014	p.Glu787Asp	missense variant	-	NC_000009.12:g.95467315T>G	TOPMed
RCV000690135	p.Glu787Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467315T>G	ClinVar
rs1454135593	p.Tyr788Asp	missense variant	-	NC_000009.12:g.95467314A>C	gnomAD
RCV000475269	p.Phe790Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467306A>T	ClinVar
rs1060502300	p.Phe790Leu	missense variant	-	NC_000009.12:g.95467306A>T	-
NCI-TCGA novel	p.Ala792Ser	missense variant	-	NC_000009.12:g.95467302C>A	NCI-TCGA
rs1554694390	p.Ala793Thr	missense variant	-	NC_000009.12:g.95467299C>T	-
RCV000628427	p.Ala793Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467299C>T	ClinVar
NCI-TCGA novel	p.Phe795Leu	missense variant	-	NC_000009.12:g.95467291G>T	NCI-TCGA
RCV000230356	p.Tyr797Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95467285G>T	ClinVar
rs778260156	p.Tyr797Ter	stop gained	-	NC_000009.12:g.95467285G>T	ExAC,gnomAD
rs1250426680	p.Tyr797His	missense variant	-	NC_000009.12:g.95467287A>G	gnomAD
rs1356433882	p.Ser799Pro	missense variant	-	NC_000009.12:g.95467281A>G	TOPMed
rs1554694376	p.Met803Thr	missense variant	-	NC_000009.12:g.95467268A>G	-
RCV000544815	p.Met803Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467268A>G	ClinVar
rs1339383116	p.Ile805Thr	missense variant	-	NC_000009.12:g.95467262A>G	gnomAD
RCV000628403	p.Ile805Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467263T>C	ClinVar
rs1554694372	p.Ile805Val	missense variant	-	NC_000009.12:g.95467263T>C	-
NCI-TCGA novel	p.Val806Ala	missense variant	-	NC_000009.12:g.95467259A>G	NCI-TCGA
COSM1463896	p.Lys809Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95467250T>G	NCI-TCGA Cosmic
rs1228732568	p.Ala810Val	missense variant	-	NC_000009.12:g.95467247G>A	TOPMed,gnomAD
rs45579032	p.Pro813Ala	missense variant	-	NC_000009.12:g.95467239G>C	ExAC,TOPMed,gnomAD
RCV000432257	p.Pro813Ala	missense variant	-	NC_000009.12:g.95467239G>C	ClinVar
RCV000764845	p.Asn814His	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95467236T>G	ClinVar
RCV000168036	p.Asn814His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467236T>G	ClinVar
rs754623561	p.Asn814His	missense variant	-	NC_000009.12:g.95467236T>G	ExAC,TOPMed,gnomAD
rs375257965	p.Ile815Val	missense variant	-	NC_000009.12:g.95467233T>C	ESP,ExAC,gnomAD
VAR_007845	p.Ile815insIleProAsnIle	inframe_insertion	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
RCV000780652	p.Gln816Arg	missense variant	-	NC_000009.12:g.95467229T>C	ClinVar
VAR_010977	p.Gln816del	inframe_deletion	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
RCV000494629	p.Leu818Ter	nonsense	-	NC_000009.12:g.95467223A>C	ClinVar
rs1131691630	p.Leu818Ter	stop gained	-	NC_000009.12:g.95467223A>C	-
rs1215737141	p.Leu819Phe	missense variant	-	NC_000009.12:g.95467221G>A	TOPMed
RCV000628357	p.Asp821Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467215C>T	ClinVar
rs762855028	p.Asp821Asn	missense variant	-	NC_000009.12:g.95467215C>T	ExAC,TOPMed,gnomAD
rs370915763	p.His823Tyr	missense variant	-	NC_000009.12:g.95467209G>A	ESP,ExAC,TOPMed,gnomAD
rs1174748645	p.Phe826Cys	missense variant	-	NC_000009.12:g.95467199A>C	gnomAD
rs199476092	p.Ser827Gly	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95467197T>C	UniProt,dbSNP
VAR_032956	p.Ser827Gly	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95467197T>C	UniProt
rs199476092	p.Ser827Gly	missense variant	-	NC_000009.12:g.95467197T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000034565	p.Ser827Gly	missense variant	-	NC_000009.12:g.95467197T>C	ClinVar
rs201125580	p.Val829Met	missense variant	-	NC_000009.12:g.95467191C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201125580	p.Val829Leu	missense variant	-	NC_000009.12:g.95467191C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000168321	p.Val829Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467191C>T	ClinVar
rs201125580	p.Val829Met	missense variant	-	NC_000009.12:g.95467191C>T	UniProt,dbSNP
VAR_010978	p.Val829Met	missense variant	-	NC_000009.12:g.95467191C>T	UniProt
rs786204167	p.Val832Asp	missense variant	-	NC_000009.12:g.95467181A>T	-
RCV000168180	p.Val832Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467181A>T	ClinVar
rs1253407915	p.Val832Ile	missense variant	-	NC_000009.12:g.95467182C>T	gnomAD
RCV000628354	p.Met833Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467179T>C	ClinVar
rs771222407	p.Met833Val	missense variant	-	NC_000009.12:g.95467179T>C	ExAC,TOPMed,gnomAD
rs1060502269	p.Met833Thr	missense variant	-	NC_000009.12:g.95467178A>G	-
RCV000463190	p.Met833Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467178A>G	ClinVar
rs78708791	p.Glu836Lys	missense variant	-	NC_000009.12:g.95467170C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu836Gly	missense variant	-	NC_000009.12:g.95467169T>C	NCI-TCGA
RCV000204507	p.Glu836Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467170C>T	ClinVar
rs1220749812	p.Lys838Thr	missense variant	-	NC_000009.12:g.95467163T>G	gnomAD
rs1185902807	p.Lys838Glu	missense variant	-	NC_000009.12:g.95467164T>C	gnomAD
RCV000688465	p.Gln839Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95467161G>A	ClinVar
NCI-TCGA novel	p.Gln839Glu	missense variant	-	NC_000009.12:g.95467161G>C	NCI-TCGA
rs145217620	p.Met843Thr	missense variant	-	NC_000009.12:g.95467148A>G	ESP,ExAC,TOPMed,gnomAD
rs1352235060	p.Tyr847Cys	missense variant	-	NC_000009.12:g.95467136T>C	gnomAD
RCV000492310	p.Tyr847Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95467134_95467137delinsCT	ClinVar
RCV000202420	p.Tyr847Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95467134_95467137delinsCT	ClinVar
RCV000523820	p.Tyr847Ter	nonsense	-	NC_000009.12:g.95467135G>C	ClinVar
rs1554694254	p.Leu852Pro	missense variant	-	NC_000009.12:g.95467121A>G	-
RCV000628363	p.Leu852Pro	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95467121A>G	ClinVar
RCV000492629	p.Gln853Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95467118T>G	ClinVar
RCV000121887	p.Gln853Arg	missense variant	-	NC_000009.12:g.95467118T>C	ClinVar
rs587778628	p.Gln853Arg	missense variant	-	NC_000009.12:g.95467118T>C	ExAC,TOPMed,gnomAD
rs587778628	p.Gln853Pro	missense variant	-	NC_000009.12:g.95467118T>G	ExAC,TOPMed,gnomAD
COSM3780221	p.Gly854Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95467116C>T	NCI-TCGA Cosmic
rs763119366	p.Asp857Gly	missense variant	-	NC_000009.12:g.95461989T>C	ExAC,gnomAD
rs1411815126	p.Asp860Val	missense variant	-	NC_000009.12:g.95461980T>A	TOPMed
COSM3849167	p.Asp860His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95461981C>G	NCI-TCGA Cosmic
COSM5096304	p.Asp860Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95461981C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp860ValPheSerTerUnk	frameshift	-	NC_000009.12:g.95461980_95461981insA	NCI-TCGA
rs1338982883	p.Ser861Gly	missense variant	-	NC_000009.12:g.95461978T>C	gnomAD
rs1277861627	p.Trp863Cys	missense variant	-	NC_000009.12:g.95461970C>A	TOPMed
rs1186399866	p.Thr865Ala	missense variant	-	NC_000009.12:g.95461966T>C	TOPMed,gnomAD
RCV000197593	p.Gly866Glu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461962C>T	ClinVar
rs863224651	p.Gly866Glu	missense variant	-	NC_000009.12:g.95461962C>T	gnomAD
rs765578315	p.Gly866Arg	missense variant	-	NC_000009.12:g.95461963C>T	ExAC,TOPMed,gnomAD
RCV000492664	p.Ile868Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461963del	ClinVar
rs1345518847	p.Met869Lys	missense variant	-	NC_000009.12:g.95461953A>T	TOPMed
NCI-TCGA novel	p.Met869IlePheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95461952_95461953insA	NCI-TCGA
NCI-TCGA novel	p.Met869Val	missense variant	-	NC_000009.12:g.95461954T>C	NCI-TCGA
rs777120634	p.Asn871Asp	missense variant	-	NC_000009.12:g.95461948T>C	ExAC,gnomAD
rs777120634	p.Asn871Tyr	missense variant	-	NC_000009.12:g.95461948T>A	ExAC,gnomAD
rs769029578	p.Asn872Ser	missense variant	-	NC_000009.12:g.95461944T>C	ExAC,gnomAD
rs1554692291	p.Tyr873Ter	stop gained	-	NC_000009.12:g.95461940G>C	-
RCV000544181	p.Tyr873Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95461940G>C	ClinVar
rs1405372916	p.Asn875Ser	missense variant	-	NC_000009.12:g.95461935T>C	gnomAD
rs1131691758	p.Gly876Ter	stop gained	-	NC_000009.12:g.95461933C>A	-
RCV000493515	p.Gly876Ter	nonsense	-	NC_000009.12:g.95461933C>A	ClinVar
rs771732591	p.Asp878Glu	missense variant	-	NC_000009.12:g.95461925G>T	ExAC,TOPMed,gnomAD
RCV000566149	p.Asp878Glu	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461925G>T	ClinVar
RCV000556427	p.Asp878Glu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461925G>T	ClinVar
RCV000761176	p.Asp879Asn	missense variant	B-Lymphoblastic Leukemia/Lymphoma with Intrachromosomal Amplification of Chromosome 21	NC_000009.12:g.95461924C>T	ClinVar
RCV000571728	p.Asp879Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461924C>T	ClinVar
RCV000764844	p.Asp879Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461924C>T	ClinVar
RCV000200138	p.Asp879Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461924C>T	ClinVar
rs750373573	p.Asp879Asn	missense variant	-	NC_000009.12:g.95461924C>T	ExAC,TOPMed,gnomAD
rs971300374	p.Gly880Val	missense variant	-	NC_000009.12:g.95461920C>A	TOPMed
RCV000532631	p.Gly880Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95461921del	ClinVar
rs1272128871	p.Lys885Arg	missense variant	-	NC_000009.12:g.95461905T>C	gnomAD
RCV000571546	p.Lys885Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461905T>A	ClinVar
rs1272128871	p.Lys885Ile	missense variant	-	NC_000009.12:g.95461905T>A	gnomAD
NCI-TCGA novel	p.Leu886Pro	missense variant	-	NC_000009.12:g.95461902A>G	NCI-TCGA
RCV000764843	p.Gly891Ser	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95461888C>T	ClinVar
rs570091335	p.Gly891Ser	missense variant	-	NC_000009.12:g.95461888C>T	ExAC,TOPMed,gnomAD
RCV000205792	p.Gly891Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461888C>T	ClinVar
RCV000492234	p.Gly891Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461888C>T	ClinVar
rs1427672162	p.Ser892Arg	missense variant	-	NC_000009.12:g.95461883G>C	TOPMed
RCV000702656	p.Ser892Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461883G>C	ClinVar
rs138154222	p.Arg893His	missense variant	-	NC_000009.12:g.95461881C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs753008328	p.Arg893Cys	missense variant	-	NC_000009.12:g.95461882G>A	ExAC,gnomAD
RCV000364653	p.Arg893His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461881C>T	ClinVar
RCV000569148	p.Asp894Asn	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95461879C>T	ClinVar
rs56173896	p.Asp894Asn	missense variant	-	NC_000009.12:g.95461879C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758483793	p.Ile897Val	missense variant	-	NC_000009.12:g.95461870T>C	ExAC,TOPMed,gnomAD
RCV000477404	p.Ile897Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461870T>C	ClinVar
rs531947455	p.Asp898Asn	missense variant	-	NC_000009.12:g.95461867C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000197362	p.Asp898Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461867C>T	ClinVar
RCV000791706	p.Ile899Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95461864T>C	ClinVar
rs765371196	p.Ile899Val	missense variant	-	NC_000009.12:g.95461864T>C	ExAC,gnomAD
rs762152128	p.Ser900Asn	missense variant	-	NC_000009.12:g.95461860C>T	ExAC,gnomAD
rs1369362346	p.Ser900Gly	missense variant	-	NC_000009.12:g.95461861T>C	gnomAD
rs1064796618	p.Gln901Ter	stop gained	-	NC_000009.12:g.95461858G>A	-
RCV000480196	p.Gln901Ter	nonsense	-	NC_000009.12:g.95461858G>A	ClinVar
COSM1111468	p.Gln901His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95461856C>A	NCI-TCGA Cosmic
rs993814839	p.Leu902Phe	missense variant	-	NC_000009.12:g.95459781C>G	gnomAD
RCV000707034	p.Thr903Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459779G>C	ClinVar
rs864622088	p.Gln905Lys	missense variant	-	NC_000009.12:g.95459774G>T	gnomAD
RCV000205429	p.Gln905Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459774G>T	ClinVar
RCV000657474	p.Gln905Ter	frameshift	-	NC_000009.12:g.95459777dup	ClinVar
rs764310195	p.Arg906His	missense variant	-	NC_000009.12:g.95459770C>T	ExAC,TOPMed,gnomAD
rs199476093	p.Val908Gly	missense variant	-	NC_000009.12:g.95459764A>C	-
rs199476093	p.Val908Gly	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95459764A>C	UniProt,dbSNP
VAR_032957	p.Val908Gly	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95459764A>C	UniProt
RCV000008708	p.Val908Gly	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95459764A>C	ClinVar
rs761127231	p.Ala910Thr	missense variant	-	NC_000009.12:g.95459759C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala910Val	missense variant	-	NC_000009.12:g.95459758G>A	NCI-TCGA
NCI-TCGA novel	p.Gly912Val	missense variant	-	NC_000009.12:g.95459752C>A	NCI-TCGA
rs147643145	p.Ile913Val	missense variant	-	NC_000009.12:g.95459750T>C	ESP,ExAC,TOPMed,gnomAD
rs1441750517	p.Ile914Val	missense variant	-	NC_000009.12:g.95459747T>C	TOPMed
COSM3909161	p.Ala918Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95459735C>T	NCI-TCGA Cosmic
rs760174192	p.Ile921Val	missense variant	-	NC_000009.12:g.95459726T>C	ExAC,TOPMed,gnomAD
rs773706968	p.Ile921Thr	missense variant	-	NC_000009.12:g.95459725A>G	ExAC,gnomAD
RCV000692152	p.Ile921Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459724G>C	ClinVar
RCV000463361	p.Ile921Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459726T>C	ClinVar
RCV000492511	p.Thr924Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459723_95459726dup	ClinVar
rs1456450494	p.Thr924Met	missense variant	-	NC_000009.12:g.95459716G>A	TOPMed,gnomAD
rs1554691693	p.Val927Ile	missense variant	-	NC_000009.12:g.95459708C>T	-
RCV000562669	p.Val927Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459708C>T	ClinVar
RCV000168358	p.Ser928Gly	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459705T>C	ClinVar
RCV000628423	p.Ser928Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459704C>G	ClinVar
rs1554691690	p.Ser928Thr	missense variant	-	NC_000009.12:g.95459704C>G	-
rs786204224	p.Ser928Gly	missense variant	-	NC_000009.12:g.95459705T>C	gnomAD
NCI-TCGA novel	p.Ser928Asn	missense variant	-	NC_000009.12:g.95459704C>T	NCI-TCGA
rs539755311	p.Asp930Asn	missense variant	-	NC_000009.12:g.95459699C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1297881578	p.Asp930Val	missense variant	-	NC_000009.12:g.95459698T>A	TOPMed,gnomAD
rs772928587	p.Pro931Arg	missense variant	-	NC_000009.12:g.95459695G>C	ExAC,TOPMed,gnomAD
RCV000535608	p.Pro931Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459695G>C	ClinVar
rs376084632	p.Val932Ile	missense variant	-	NC_000009.12:g.95459693C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val932Asp	missense variant	-	NC_000009.12:g.95459692A>T	NCI-TCGA
RCV000628350	p.Val932Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459693C>T	ClinVar
RCV000492384	p.Val932Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459693del	ClinVar
RCV000822888	p.Ala933Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459690C>T	ClinVar
rs768558478	p.Ala933Val	missense variant	-	NC_000009.12:g.95459689G>A	ExAC,TOPMed,gnomAD
RCV000568877	p.Ala933Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459690C>T	ClinVar
rs373120584	p.Ala933Thr	missense variant	-	NC_000009.12:g.95459690C>T	ESP,ExAC,gnomAD
rs1209943415	p.Tyr934Phe	missense variant	-	NC_000009.12:g.95459686T>A	TOPMed,gnomAD
RCV000706911	p.Tyr934Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95459685A>C	ClinVar
RCV000199981	p.Tyr934Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95459688del	ClinVar
rs1554691676	p.Ala935Pro	missense variant	-	NC_000009.12:g.95459684C>G	-
RCV000575593	p.Ala935Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459684C>G	ClinVar
rs778810550	p.Gln938Glu	missense variant	-	NC_000009.12:g.95459675G>C	ExAC,TOPMed,gnomAD
rs749406453	p.Asn940Ser	missense variant	-	NC_000009.12:g.95459668T>C	ExAC,gnomAD
RCV000703762	p.Asn940Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459669T>C	ClinVar
rs1434126591	p.Ile941Phe	missense variant	-	NC_000009.12:g.95459666T>A	gnomAD
rs756465236	p.Arg942Trp	missense variant	-	NC_000009.12:g.95459663G>A	ExAC,gnomAD
rs1322263418	p.His944Arg	missense variant	-	NC_000009.12:g.95459656T>C	gnomAD
rs1064794260	p.Arg945Gly	missense variant	-	NC_000009.12:g.95459654G>C	gnomAD
rs201118857	p.Arg945Leu	missense variant	-	NC_000009.12:g.95459653C>A	ExAC,TOPMed,gnomAD
RCV000492276	p.Arg945Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459654G>A	ClinVar
RCV000479378	p.Arg945Ter	nonsense	-	NC_000009.12:g.95459654G>A	ClinVar
RCV000655932	p.Arg945Ter	frameshift	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95459653delinsGGGTCCACAACATCT	ClinVar
rs201118857	p.Arg945Gln	missense variant	-	NC_000009.12:g.95459653C>T	ExAC,TOPMed,gnomAD
RCV000034568	p.Arg945Gln	missense variant	-	NC_000009.12:g.95459653C>T	ClinVar
RCV000195909	p.Arg945Gln	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459653C>T	ClinVar
rs1064794260	p.Arg945Ter	stop gained	-	NC_000009.12:g.95459654G>A	gnomAD
rs768039033	p.Glu947Gln	missense variant	-	NC_000009.12:g.95459648C>G	ExAC,TOPMed,gnomAD
RCV000196749	p.Trp948Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95459639_95459646del	ClinVar
rs752126122	p.Asp951Gly	missense variant	-	NC_000009.12:g.95459635T>C	ExAC,gnomAD
rs765746826	p.Ala953Thr	missense variant	-	NC_000009.12:g.95459630C>T	ExAC,gnomAD
RCV000485865	p.Asp954Ter	nonsense	-	NC_000009.12:g.95459618_95459627delinsACTA	ClinVar
rs772662871	p.Asp954Asn	missense variant	-	NC_000009.12:g.95459627C>T	ExAC,TOPMed,gnomAD
RCV000628338	p.Asp954Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459627C>T	ClinVar
rs1064793991	p.AspTyrMetPro954TerSer	stop gained	-	NC_000009.12:g.95459618_95459627delinsACTA	-
rs761501958	p.Met956Ile	missense variant	-	NC_000009.12:g.95459619C>T	ExAC,gnomAD
rs587780699	p.Met956Val	missense variant	-	NC_000009.12:g.95459621T>C	TOPMed,gnomAD
RCV000123017	p.Met956Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95459621T>C	ClinVar
RCV000566411	p.Met956Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95459621T>C	ClinVar
NCI-TCGA novel	p.Pro957Ser	missense variant	-	NC_000009.12:g.95459618G>A	NCI-TCGA
NCI-TCGA novel	p.Pro957His	missense variant	-	NC_000009.12:g.95459617G>T	NCI-TCGA
rs1376533047	p.Pro957Arg	missense variant	-	NC_000009.12:g.95459617G>C	TOPMed
rs776378611	p.Thr959Ile	missense variant	-	NC_000009.12:g.95459611G>A	ExAC,gnomAD
rs776378611	p.Thr959Arg	missense variant	-	NC_000009.12:g.95459611G>C	ExAC,gnomAD
RCV000229031	p.Ile963Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458292G>C	ClinVar
rs878853853	p.Ile963Met	missense variant	-	NC_000009.12:g.95458292G>C	-
rs377120922	p.Pro964Leu	missense variant	-	NC_000009.12:g.95458290G>A	ExAC,TOPMed,gnomAD
RCV000628391	p.Pro964Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458290G>A	ClinVar
rs1253559528	p.Ala966Thr	missense variant	-	NC_000009.12:g.95458285C>T	gnomAD
rs1381484167	p.Ala966Gly	missense variant	-	NC_000009.12:g.95458284G>C	TOPMed
rs886041943	p.Glu967Ter	stop gained	-	NC_000009.12:g.95458282C>A	-
RCV000332048	p.Glu967Ter	nonsense	-	NC_000009.12:g.95458282C>A	ClinVar
rs770020639	p.Pro968Arg	missense variant	-	NC_000009.12:g.95458278G>C	ExAC,gnomAD
rs1201956507	p.Glu970Lys	missense variant	-	NC_000009.12:g.95458273C>T	gnomAD
RCV000549591	p.Glu970Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458273C>T	ClinVar
RCV000701427	p.Gln973His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458262C>A	ClinVar
rs747385350	p.Phe974Leu	missense variant	-	NC_000009.12:g.95458259G>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe976Leu	missense variant	-	NC_000009.12:g.95458255A>G	NCI-TCGA
rs587780700	p.Tyr977His	missense variant	-	NC_000009.12:g.95458252A>G	ExAC,gnomAD
RCV000123019	p.Tyr977His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458252A>G	ClinVar
RCV000197768	p.Leu978Pro	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458248A>G	ClinVar
RCV000525437	p.Leu978Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95458249_95458250insTCTAC	ClinVar
rs863224652	p.Leu978Pro	missense variant	-	NC_000009.12:g.95458248A>G	-
RCV000542578	p.Asn979Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458245T>C	ClinVar
rs758907408	p.Asn979Ser	missense variant	-	NC_000009.12:g.95458245T>C	ExAC,TOPMed,gnomAD
rs778337760	p.Gly980Ser	missense variant	-	NC_000009.12:g.95458243C>T	ExAC,TOPMed,gnomAD
COSM1111453	p.Gly980Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95458243C>A	NCI-TCGA Cosmic
rs753414816	p.Leu981Phe	missense variant	-	NC_000009.12:g.95458238C>A	ExAC,gnomAD
rs867973996	p.Arg982Trp	missense variant	-	NC_000009.12:g.95458237G>A	gnomAD
RCV000553221	p.Arg982Gln	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458236C>T	ClinVar
rs145924695	p.Arg982Gln	missense variant	-	NC_000009.12:g.95458236C>T	ESP,ExAC,TOPMed,gnomAD
RCV000148763	p.Arg982Gln	missense variant	Congenital heart disease (CHD)	NC_000009.12:g.95458236C>T	ClinVar
COSM6184363	p.Asp983Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95458234C>T	NCI-TCGA Cosmic
RCV000628368	p.Ser985Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458227G>A	ClinVar
rs760297274	p.Ser985Leu	missense variant	-	NC_000009.12:g.95458227G>A	ExAC,gnomAD
COSM4947171	p.Val988Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95458218A>T	NCI-TCGA Cosmic
rs1257244317	p.Val988Leu	missense variant	-	NC_000009.12:g.95458219C>A	TOPMed
rs1472299295	p.Glu989Lys	missense variant	-	NC_000009.12:g.95458216C>T	gnomAD
rs1235316882	p.Ala990Thr	missense variant	-	NC_000009.12:g.95458213C>T	gnomAD
rs1189382722	p.Ile991Val	missense variant	-	NC_000009.12:g.95458210T>C	gnomAD
RCV000461636	p.Glu992Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95458207C>A	ClinVar
rs1060502278	p.Glu992Ter	stop gained	-	NC_000009.12:g.95458207C>A	-
rs767250750	p.Glu992Gly	missense variant	-	NC_000009.12:g.95458206T>C	ExAC,gnomAD
RCV000460986	p.Ile997Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458192T>C	ClinVar
rs774440323	p.Ile997Val	missense variant	-	NC_000009.12:g.95458192T>C	ExAC,TOPMed,gnomAD
rs1181905241	p.Ser999Arg	missense variant	-	NC_000009.12:g.95458186T>G	TOPMed
rs1060502298	p.Tyr1001Ter	stop gained	-	NC_000009.12:g.95458178A>T	-
RCV000461102	p.Tyr1001Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95458178A>T	ClinVar
rs769924767	p.Thr1002Met	missense variant	-	NC_000009.12:g.95458176G>A	ExAC,TOPMed,gnomAD
RCV000469771	p.Thr1002Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458176G>A	ClinVar
rs769866360	p.Ser1003Asn	missense variant	-	NC_000009.12:g.95458173C>T	ExAC,TOPMed,gnomAD
RCV000628372	p.Ser1003Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458173C>T	ClinVar
RCV000686585	p.Leu1004Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458170A>C	ClinVar
rs864622620	p.Leu1004Val	missense variant	-	NC_000009.12:g.95458171G>C	-
RCV000206746	p.Leu1004Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458171G>C	ClinVar
rs768898370	p.Gly1005Arg	missense variant	-	NC_000009.12:g.95458168C>T	ExAC,gnomAD
rs1286123273	p.Ser1008Ile	missense variant	-	NC_000009.12:g.95458158C>A	gnomAD
COSM487707	p.Ser1008Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95458158C>T	NCI-TCGA Cosmic
RCV000492224	p.Tyr1009Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95458154G>T	ClinVar
rs747234651	p.Tyr1009Ter	stop gained	-	NC_000009.12:g.95458154G>T	ExAC,TOPMed,gnomAD
rs780425276	p.Asn1011Ser	missense variant	-	NC_000009.12:g.95458149T>C	ExAC
rs187813269	p.Gly1012Ser	missense variant	-	NC_000009.12:g.95458147C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs779388970	p.Tyr1013Ter	stop gained	-	NC_000009.12:g.95458142G>T	ExAC,gnomAD
rs1404012576	p.Pro1014Leu	missense variant	-	NC_000009.12:g.95458140G>A	TOPMed
RCV000529338	p.Pro1014Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458140G>A	ClinVar
RCV000255395	p.Phe1015Ter	frameshift	-	NC_000009.12:g.95458113_95458140del	ClinVar
RCV000255967	p.Phe1015Ter	frameshift	-	NC_000009.12:g.95458142del	ClinVar
rs1318411238	p.Phe1015Ile	missense variant	-	NC_000009.12:g.95458138A>T	gnomAD
rs374575067	p.Leu1016Phe	missense variant	-	NC_000009.12:g.95458135G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Trp1018Leu	missense variant	-	NC_000009.12:g.95458128C>A	NCI-TCGA
NCI-TCGA novel	p.Gln1020SerPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95458123G>-	NCI-TCGA
rs1444833702	p.Gln1020Arg	missense variant	-	NC_000009.12:g.95458122T>C	gnomAD
rs1003711941	p.Ile1022Val	missense variant	-	NC_000009.12:g.95458117T>C	TOPMed,gnomAD
rs1003711941	p.Ile1022Leu	missense variant	-	NC_000009.12:g.95458117T>G	TOPMed,gnomAD
RCV000628420	p.Gly1023Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458114C>T	ClinVar
rs752317944	p.Gly1023Ser	missense variant	-	NC_000009.12:g.95458114C>T	ExAC,TOPMed,gnomAD
COSM6184367	p.Gly1023Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95458114C>A	NCI-TCGA Cosmic
rs759405378	p.Leu1024Val	missense variant	-	NC_000009.12:g.95458111G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu1024Ile	missense variant	-	NC_000009.12:g.95458111G>T	NCI-TCGA
NCI-TCGA novel	p.Leu1024Phe	missense variant	-	NC_000009.12:g.95458111G>A	NCI-TCGA
rs370150142	p.Arg1025Pro	missense variant	-	NC_000009.12:g.95458107C>G	ESP,ExAC,TOPMed,gnomAD
RCV000205211	p.Arg1025His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458107C>T	ClinVar
rs370150142	p.Arg1025His	missense variant	-	NC_000009.12:g.95458107C>T	ESP,ExAC,TOPMed,gnomAD
rs763031827	p.His1026Arg	missense variant	-	NC_000009.12:g.95458104T>C	ExAC,gnomAD
rs776739985	p.Leu1029Val	missense variant	-	NC_000009.12:g.95458096G>C	ExAC,gnomAD
rs1040729718	p.Leu1030Val	missense variant	-	NC_000009.12:g.95458093G>C	TOPMed,gnomAD
rs1255292994	p.Phe1031Val	missense variant	-	NC_000009.12:g.95458090A>C	gnomAD
rs760902564	p.Val1034Met	missense variant	-	NC_000009.12:g.95458081C>T	ExAC,TOPMed,gnomAD
RCV000205641	p.Val1034Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458081C>T	ClinVar
rs1554691359	p.Leu1036Ter	stop gained	-	NC_000009.12:g.95458074A>T	-
RCV000622424	p.Leu1036Ter	nonsense	Inborn genetic diseases	NC_000009.12:g.95458074A>T	ClinVar
RCV000204587	p.Val1042Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458057C>T	ClinVar
rs772406487	p.Val1042Met	missense variant	-	NC_000009.12:g.95458057C>T	ExAC,TOPMed,gnomAD
rs746220311	p.Cys1043Trp	missense variant	-	NC_000009.12:g.95458052G>C	ExAC,TOPMed,gnomAD
rs1345405015	p.Cys1043Phe	missense variant	-	NC_000009.12:g.95458053C>A	TOPMed,gnomAD
RCV000530698	p.Cys1043Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95458056dup	ClinVar
rs138458710	p.Ala1044Ser	missense variant	-	NC_000009.12:g.95458051C>A	ESP,ExAC,TOPMed,gnomAD
rs138458710	p.Ala1044Thr	missense variant	-	NC_000009.12:g.95458051C>T	ESP,ExAC,TOPMed,gnomAD
RCV000797992	p.Ala1044Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458051C>T	ClinVar
RCV000573885	p.Ala1044Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95458051C>T	ClinVar
RCV000685573	p.Phe1046Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458045A>T	ClinVar
RCV000492189	p.Phe1046Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95458039_95458042GAAG[1]	ClinVar
rs1053698119	p.Leu1047Ile	missense variant	-	NC_000009.12:g.95458042G>T	TOPMed
rs1420175816	p.Pro1050Leu	missense variant	-	NC_000009.12:g.95458032G>A	gnomAD
RCV000694954	p.Pro1050Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458032G>A	ClinVar
rs1060502301	p.Trp1051Ter	stop gained	-	NC_000009.12:g.95458029C>T	-
RCV000702049	p.Trp1051Gly	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95458030A>C	ClinVar
RCV000477420	p.Trp1051Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95458029C>T	ClinVar
RCV000492750	p.Trp1051Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95458029C>T	ClinVar
RCV000034570	p.Thr1052Met	missense variant	-	NC_000009.12:g.95458026G>A	ClinVar
rs138911275	p.Thr1052Met	missense variant	-	NC_000009.12:g.95458026G>A	ESP,ExAC,TOPMed,gnomAD
rs138911275	p.Thr1052Met	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95458026G>A	UniProt,dbSNP
VAR_032958	p.Thr1052Met	missense variant	Holoprosencephaly 7 (HPE7)	NC_000009.12:g.95458026G>A	UniProt
rs1482854138	p.Ile1056Val	missense variant	-	NC_000009.12:g.95458015T>C	gnomAD
rs767617256	p.Ala1061Ser	missense variant	-	NC_000009.12:g.95456401C>A	ExAC,gnomAD
rs767617256	p.Ala1061Thr	missense variant	-	NC_000009.12:g.95456401C>T	ExAC,gnomAD
rs1409913416	p.Ala1061Val	missense variant	-	NC_000009.12:g.95456400G>A	TOPMed,gnomAD
rs1260702127	p.Met1063Thr	missense variant	-	NC_000009.12:g.95456394A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Met1063AspPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95456396_95456397insG	NCI-TCGA
rs368417828	p.Thr1064Met	missense variant	-	NC_000009.12:g.95456391G>A	ESP,ExAC,TOPMed,gnomAD
RCV000456174	p.Thr1064Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456391G>A	ClinVar
rs1255655270	p.del1065ProAlaGlnIleIlePhePheLeuTerAlaGlyArgUnk	stop gained	-	NC_000009.12:g.95456389_95456390insTCCTCCCAGCTCAAAGGAAGAAAATAATTTGAGCAGG	gnomAD
rs1180496565	p.Val1065Gly	missense variant	-	NC_000009.12:g.95456388A>C	gnomAD
COSM6116548	p.Val1065Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95456389C>A	NCI-TCGA Cosmic
COSM3849159	p.Glu1066Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95456386C>T	NCI-TCGA Cosmic
rs762419846	p.Phe1068Leu	missense variant	-	NC_000009.12:g.95456378G>C	ExAC,TOPMed,gnomAD
rs762419846	p.Phe1068Leu	missense variant	-	NC_000009.12:g.95456378G>T	ExAC,TOPMed,gnomAD
RCV000628340	p.Phe1068Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456378G>C	ClinVar
VAR_010979	p.Gly1069Arg	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
rs768302786	p.Met1070Val	missense variant	-	NC_000009.12:g.95456374T>C	ExAC,gnomAD
RCV000531777	p.Met1070Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456374T>C	ClinVar
rs559317040	p.Met1071Val	missense variant	-	NC_000009.12:g.95456371T>C	1000Genomes,ExAC,gnomAD
rs559317040	p.Met1071Leu	missense variant	-	NC_000009.12:g.95456371T>A	1000Genomes,ExAC,gnomAD
rs779857568	p.Gly1072Cys	missense variant	-	NC_000009.12:g.95456368C>A	ExAC,TOPMed,gnomAD
rs779857568	p.Gly1072Ser	missense variant	-	NC_000009.12:g.95456368C>T	ExAC,TOPMed,gnomAD
rs1336953843	p.Leu1073Val	missense variant	-	NC_000009.12:g.95456365G>C	TOPMed
rs745626835	p.Ile1074Val	missense variant	-	NC_000009.12:g.95456362T>C	ExAC,gnomAD
COSM456291	p.Gly1075Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95456359C>T	NCI-TCGA Cosmic
rs753833857	p.Ile1076Val	missense variant	-	NC_000009.12:g.95456356T>C	ExAC,gnomAD
rs1554691033	p.Leu1078Pro	missense variant	-	NC_000009.12:g.95456349A>G	-
RCV000544674	p.Leu1078Pro	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456349A>G	ClinVar
rs1386356151	p.Ser1079Asn	missense variant	-	NC_000009.12:g.95456346C>T	gnomAD
rs781188522	p.Ala1080Val	missense variant	-	NC_000009.12:g.95456343G>A	ExAC,gnomAD
RCV000556979	p.Ala1080Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456343G>A	ClinVar
rs587778629	p.Val1081Met	missense variant	-	NC_000009.12:g.95456341C>T	ExAC,TOPMed,gnomAD
RCV000207354	p.Val1081Met	missense variant	-	NC_000009.12:g.95456341C>T	ClinVar
RCV000537682	p.Val1083Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456335C>T	ClinVar
RCV000034571	p.Val1083Met	missense variant	-	NC_000009.12:g.95456335C>T	ClinVar
rs202052415	p.Val1083Met	missense variant	-	NC_000009.12:g.95456335C>T	ESP,ExAC,TOPMed,gnomAD
VAR_007846	p.Val1083insValVal	duplication	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
RCV000550609	p.Val1084Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456331A>G	ClinVar
rs1463935039	p.Val1084Ala	missense variant	-	NC_000009.12:g.95456331A>G	TOPMed,gnomAD
rs762179580	p.Ile1085Thr	missense variant	-	NC_000009.12:g.95456328A>G	ExAC,gnomAD
rs150217389	p.Ala1088Thr	missense variant	-	NC_000009.12:g.95456320C>T	ESP,ExAC,TOPMed,gnomAD
RCV000472932	p.Ala1088Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456320C>T	ClinVar
NCI-TCGA novel	p.Ser1089Tyr	missense variant	-	NC_000009.12:g.95456316G>T	NCI-TCGA
rs775188592	p.Val1090Leu	missense variant	-	NC_000009.12:g.95456314C>G	ExAC,gnomAD
rs1227312736	p.Ile1092Met	missense variant	-	NC_000009.12:g.95456306T>C	gnomAD
COSM88149	p.Gly1093Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95456305C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1095Gln	missense variant	-	NC_000009.12:g.95456299C>G	NCI-TCGA
NCI-TCGA novel	p.Glu1095Ter	stop gained	-	NC_000009.12:g.95456299C>A	NCI-TCGA
RCV000628342	p.Val1098Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456290C>T	ClinVar
rs1291842090	p.Val1098Ala	missense variant	-	NC_000009.12:g.95456289A>G	TOPMed,gnomAD
rs748726158	p.Val1098Ile	missense variant	-	NC_000009.12:g.95456290C>T	ExAC,TOPMed,gnomAD
RCV000690691	p.Val1098Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456289A>G	ClinVar
rs1426410745	p.His1099Asp	missense variant	-	NC_000009.12:g.95456287G>C	TOPMed
RCV000462088	p.Val1100Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456284C>T	ClinVar
rs577110118	p.Val1100Ile	missense variant	-	NC_000009.12:g.95456284C>T	1000Genomes,ExAC,gnomAD
COSM72330	p.Ala1101Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95456281C>A	NCI-TCGA Cosmic
RCV000799469	p.Leu1102Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95456278A>C	ClinVar
rs1554690984	p.Leu1102Val	missense variant	-	NC_000009.12:g.95456278A>C	-
RCV000565350	p.Leu1102Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95456278A>C	ClinVar
NCI-TCGA novel	p.Leu1102Phe	missense variant	-	NC_000009.12:g.95456276C>A	NCI-TCGA
NCI-TCGA novel	p.Leu1102PhePheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95456276_95456277insA	NCI-TCGA
rs1554690489	p.Phe1104Leu	missense variant	-	NC_000009.12:g.95453615A>T	-
RCV000660493	p.Phe1104Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453615A>T	ClinVar
RCV000204886	p.Thr1106Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453610G>A	ClinVar
rs769691754	p.Thr1106Met	missense variant	-	NC_000009.12:g.95453610G>A	ExAC,TOPMed,gnomAD
RCV000657455	p.Thr1106Ter	frameshift	-	NC_000009.12:g.95453613dup	ClinVar
RCV000465324	p.Ile1108Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453605T>C	ClinVar
rs866037881	p.Ile1108Val	missense variant	-	NC_000009.12:g.95453605T>C	TOPMed,gnomAD
rs748117539	p.Ile1108Met	missense variant	-	NC_000009.12:g.95453603G>C	ExAC,gnomAD
rs1344231723	p.Gly1109Ser	missense variant	-	NC_000009.12:g.95453602C>T	TOPMed,gnomAD
rs911494100	p.Asp1110Asn	missense variant	-	NC_000009.12:g.95453599C>T	gnomAD
rs1225462094	p.Asn1112Ser	missense variant	-	NC_000009.12:g.95453592T>C	gnomAD
rs758520331	p.Arg1113Cys	missense variant	-	NC_000009.12:g.95453590G>A	ExAC,TOPMed,gnomAD
RCV000204267	p.Arg1113His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453589C>T	ClinVar
rs143781513	p.Arg1113His	missense variant	-	NC_000009.12:g.95453589C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000008703	p.Arg1114Trp	missense variant	Basal cell carcinoma, somatic	NC_000009.12:g.95453587T>A	ClinVar
rs587776689	p.Arg1114Trp	missense variant	Basal cell nevus syndrome (BCNS)	NC_000009.12:g.95453587T>A	UniProt,dbSNP
VAR_007847	p.Arg1114Trp	missense variant	Basal cell nevus syndrome (BCNS)	NC_000009.12:g.95453587T>A	UniProt
rs587776689	p.Arg1114Trp	missense variant	-	NC_000009.12:g.95453587T>A	TOPMed
rs779192138	p.Ala1115Val	missense variant	-	NC_000009.12:g.95453583G>A	ExAC,gnomAD
rs201605273	p.Val1116Leu	missense variant	-	NC_000009.12:g.95453581C>G	ExAC,gnomAD
RCV000558601	p.Val1116Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453581C>T	ClinVar
RCV000199513	p.Val1116Glu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453580A>T	ClinVar
rs863224653	p.Val1116Glu	missense variant	-	NC_000009.12:g.95453580A>T	TOPMed,gnomAD
rs201605273	p.Val1116Met	missense variant	-	NC_000009.12:g.95453581C>T	ExAC,gnomAD
rs1395751628	p.Leu1117Phe	missense variant	-	NC_000009.12:g.95453578G>A	gnomAD
rs754222483	p.Ala1118Ser	missense variant	-	NC_000009.12:g.95453575C>A	ExAC,gnomAD
rs929802114	p.Met1122Lys	missense variant	-	NC_000009.12:g.95453562A>T	TOPMed
RCV000492549	p.Met1122Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453562_95453563del	ClinVar
RCV000466769	p.Met1122Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95453562_95453563del	ClinVar
rs374187104	p.Ala1124Val	missense variant	-	NC_000009.12:g.95453556G>A	ESP,ExAC,TOPMed,gnomAD
rs1429444084	p.Pro1125Leu	missense variant	-	NC_000009.12:g.95453553G>A	gnomAD
rs147025073	p.Val1126Ile	missense variant	-	NC_000009.12:g.95453551C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000167898	p.Val1126Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453551C>T	ClinVar
RCV000575313	p.Val1126Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453551C>T	ClinVar
COSM1463828	p.Gly1129Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95453541C>T	NCI-TCGA Cosmic
rs766037357	p.Ala1130Ser	missense variant	-	NC_000009.12:g.95453539C>A	ExAC,TOPMed,gnomAD
rs766037357	p.Ala1130Thr	missense variant	-	NC_000009.12:g.95453539C>T	ExAC,TOPMed,gnomAD
RCV000196599	p.Ala1130Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453539C>T	ClinVar
rs566619057	p.Val1131Met	missense variant	-	NC_000009.12:g.95453536C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1467320686	p.Val1131Ala	missense variant	-	NC_000009.12:g.95453535A>G	gnomAD
RCV000551653	p.Val1131Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453536C>T	ClinVar
RCV000226160	p.Ser1132Pro	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453533A>G	ClinVar
rs878853856	p.Ser1132Pro	missense variant	-	NC_000009.12:g.95453533A>G	-
rs878853856	p.Ser1132Pro	missense variant	Basal cell nevus syndrome (BCNS)	NC_000009.12:g.95453533A>G	UniProt,dbSNP
VAR_010980	p.Ser1132Pro	missense variant	Basal cell nevus syndrome (BCNS)	NC_000009.12:g.95453533A>G	UniProt
VAR_010981	p.Ser1132Tyr	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
rs1131690996	p.Thr1133Ala	missense variant	-	NC_000009.12:g.95453530T>C	-
RCV000492102	p.Thr1133Ala	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453530T>C	ClinVar
rs1131690989	p.Leu1135Pro	missense variant	-	NC_000009.12:g.95453523A>G	-
RCV000492191	p.Leu1135Pro	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453523A>G	ClinVar
rs376844749	p.Ala1141Gly	missense variant	-	NC_000009.12:g.95453505G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000570061	p.Ala1141Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453505G>A	ClinVar
RCV000148762	p.Ala1141Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453505G>A	ClinVar
rs376844749	p.Ala1141Val	missense variant	-	NC_000009.12:g.95453505G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1339085767	p.Gly1142Arg	missense variant	-	NC_000009.12:g.95453503C>T	gnomAD
RCV000525810	p.Gly1142Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95453499_95453500del	ClinVar
RCV000459818	p.Asp1146Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453491C>T	ClinVar
rs749542089	p.Asp1146Asn	missense variant	-	NC_000009.12:g.95453491C>T	ExAC,TOPMed,gnomAD
rs1398400648	p.Asp1146Gly	missense variant	-	NC_000009.12:g.95453490T>C	gnomAD
rs1131690990	p.Phe1147Ser	missense variant	-	NC_000009.12:g.95453487A>G	-
RCV000492461	p.Phe1147Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453487A>G	ClinVar
rs1439411173	p.Ile1148Met	missense variant	-	NC_000009.12:g.95453483A>C	TOPMed
RCV000414011	p.Ile1148Val	missense variant	-	NC_000009.12:g.95453485T>C	ClinVar
RCV000575762	p.Ile1148Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95453485T>C	ClinVar
RCV000206748	p.Ile1148Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95453485T>C	ClinVar
rs369265532	p.Ile1148Val	missense variant	-	NC_000009.12:g.95453485T>C	ESP,ExAC,TOPMed,gnomAD
rs756549066	p.Val1149Ile	missense variant	-	NC_000009.12:g.95453482C>T	ExAC,gnomAD
rs753067741	p.Arg1150Gly	missense variant	-	NC_000009.12:g.95453479T>C	ExAC,gnomAD
COSM1111428	p.Phe1152Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95449934G>T	NCI-TCGA Cosmic
RCV000492119	p.Phe1153Ter	frameshift	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449933del	ClinVar
RCV000473018	p.Ala1154Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449930C>T	ClinVar
RCV000232714	p.Ala1154Pro	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449930C>G	ClinVar
rs878853857	p.Ala1154Pro	missense variant	-	NC_000009.12:g.95449930C>G	gnomAD
rs878853857	p.Ala1154Thr	missense variant	-	NC_000009.12:g.95449930C>T	gnomAD
RCV000458278	p.Ala1154Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95449930del	ClinVar
rs368636457	p.Ile1158Phe	missense variant	-	NC_000009.12:g.95449918T>A	ESP,ExAC,TOPMed,gnomAD
rs368636457	p.Ile1158Leu	missense variant	-	NC_000009.12:g.95449918T>G	ESP,ExAC,TOPMed,gnomAD
rs147633236	p.Thr1160Ser	missense variant	-	NC_000009.12:g.95449911G>C	ESP,ExAC,gnomAD
rs202102540	p.Ile1161Val	missense variant	-	NC_000009.12:g.95449909T>C	1000Genomes,ExAC,gnomAD
RCV000699171	p.Gly1163Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95449903del	ClinVar
RCV000123025	p.Gly1163Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449903C>T	ClinVar
RCV000573988	p.Gly1163Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449903C>T	ClinVar
RCV000206594	p.Gly1163Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449902C>A	ClinVar
rs864622120	p.Gly1163Val	missense variant	-	NC_000009.12:g.95449902C>A	-
rs113663584	p.Gly1163Ser	missense variant	-	NC_000009.12:g.95449903C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1163Asp	missense variant	-	NC_000009.12:g.95449902C>T	NCI-TCGA
RCV000034572	p.Gly1163Ser	missense variant	-	NC_000009.12:g.95449903C>T	ClinVar
rs371346118	p.Val1164Ile	missense variant	-	NC_000009.12:g.95449900C>T	ESP,ExAC,TOPMed,gnomAD
rs1271099813	p.Asn1166Ser	missense variant	-	NC_000009.12:g.95449893T>C	gnomAD
RCV000492431	p.Gly1167Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449891C>T	ClinVar
rs1131690985	p.Gly1167Arg	missense variant	-	NC_000009.12:g.95449891C>T	-
rs527747879	p.Leu1168Gln	missense variant	-	NC_000009.12:g.95449887A>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Val1173Met	missense variant	-	NC_000009.12:g.95449873C>T	NCI-TCGA
RCV000206519	p.Ser1176Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449863G>C	ClinVar
rs864622160	p.Ser1176Cys	missense variant	-	NC_000009.12:g.95449863G>C	-
NCI-TCGA novel	p.Ser1176TyrPheSerTerUnk	frameshift	-	NC_000009.12:g.95449863_95449864insT	NCI-TCGA
RCV000628362	p.Phe1177Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449861A>C	ClinVar
rs772200521	p.Phe1177Val	missense variant	-	NC_000009.12:g.95449861A>C	ExAC,gnomAD
NCI-TCGA novel	p.Phe1177Leu	missense variant	-	NC_000009.12:g.95449859G>T	NCI-TCGA
rs1278477767	p.Gly1179Glu	missense variant	-	NC_000009.12:g.95449854C>T	gnomAD
rs1314555601	p.Pro1180Ala	missense variant	-	NC_000009.12:g.95449852G>C	TOPMed
COSM5140317	p.Pro1180Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95449851G>T	NCI-TCGA Cosmic
rs367784268	p.Tyr1181His	missense variant	-	NC_000009.12:g.95449849A>G	ESP,ExAC,TOPMed,gnomAD
RCV000539775	p.Tyr1181Ter	frameshift	Gorlin syndrome (BCNS)	NC_000009.12:g.95449847_95449850delinsGGA	ClinVar
RCV000226480	p.Tyr1181His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449849A>G	ClinVar
rs1259037941	p.Pro1182Ala	missense variant	-	NC_000009.12:g.95449846G>C	TOPMed
RCV000628332	p.Pro1182Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449846G>C	ClinVar
NCI-TCGA novel	p.Pro1182His	missense variant	-	NC_000009.12:g.95449845G>T	NCI-TCGA
rs1319757275	p.Asn1188Asp	missense variant	-	NC_000009.12:g.95449311T>C	TOPMed
rs1182133257	p.Gly1189Asp	missense variant	-	NC_000009.12:g.95449307C>T	gnomAD
rs767535853	p.Gly1189Cys	missense variant	-	NC_000009.12:g.95449308C>A	ExAC,TOPMed,gnomAD
rs767535853	p.Gly1189Ser	missense variant	-	NC_000009.12:g.95449308C>T	ExAC,TOPMed,gnomAD
rs773389781	p.Asn1191Lys	missense variant	-	NC_000009.12:g.95449300G>T	ExAC,gnomAD
rs762040036	p.Arg1192His	missense variant	-	NC_000009.12:g.95449298C>T	ExAC,TOPMed,gnomAD
RCV000764842	p.Arg1192His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449298C>T	ClinVar
RCV000569176	p.Arg1192His	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449298C>T	ClinVar
RCV000204194	p.Arg1192Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449298C>A	ClinVar
RCV000819357	p.Arg1192His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449298C>T	ClinVar
rs762040036	p.Arg1192Leu	missense variant	-	NC_000009.12:g.95449298C>A	ExAC,TOPMed,gnomAD
rs571420165	p.Arg1192Cys	missense variant	-	NC_000009.12:g.95449299G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs2236405	p.Thr1195Ser	missense variant	-	NC_000009.12:g.95449290T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000121893	p.Thr1195Ser	missense variant	-	NC_000009.12:g.95449290T>A	ClinVar
RCV000492383	p.Thr1195Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449290T>A	ClinVar
rs1217566464	p.Pro1196Leu	missense variant	-	NC_000009.12:g.95449286G>A	gnomAD
rs1280830531	p.Pro1198Ser	missense variant	-	NC_000009.12:g.95449281G>A	TOPMed
RCV000628409	p.Pro1198Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449281G>A	ClinVar
RCV000688269	p.Pro1198Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449280G>C	ClinVar
rs1314113003	p.Pro1200Leu	missense variant	-	NC_000009.12:g.95449274G>A	gnomAD
rs1384935549	p.Pro1202Thr	missense variant	-	NC_000009.12:g.95449269G>T	TOPMed,gnomAD
rs374097441	p.Pro1202His	missense variant	-	NC_000009.12:g.95449268G>T	ESP,TOPMed,gnomAD
RCV000472402	p.Pro1202Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449268G>C	ClinVar
rs374097441	p.Pro1202Arg	missense variant	-	NC_000009.12:g.95449268G>C	ESP,TOPMed,gnomAD
COSM198969	p.Ser1203AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95449267G>-	NCI-TCGA Cosmic
RCV000691991	p.Ser1203Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449266T>G	ClinVar
NCI-TCGA novel	p.Ser1203GlnPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95449266_95449267insG	NCI-TCGA
rs370675945	p.Val1204Met	missense variant	-	NC_000009.12:g.95449263C>T	ESP,ExAC,TOPMed,gnomAD
RCV000469976	p.Val1204Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449263C>T	ClinVar
rs775882469	p.Val1205Ala	missense variant	-	NC_000009.12:g.95449259A>G	ExAC,gnomAD
rs772537644	p.Arg1206Cys	missense variant	-	NC_000009.12:g.95449257G>A	ExAC,TOPMed,gnomAD
RCV000477304	p.Arg1206Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449257G>A	ClinVar
RCV000570402	p.Arg1206His	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449256C>T	ClinVar
RCV000123028	p.Arg1206His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449256C>T	ClinVar
RCV000567309	p.Arg1206Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449257G>A	ClinVar
rs560967532	p.Arg1206His	missense variant	-	NC_000009.12:g.95449256C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs945517672	p.Ala1208Ser	missense variant	-	NC_000009.12:g.95449251C>A	gnomAD
rs945517672	p.Ala1208Thr	missense variant	-	NC_000009.12:g.95449251C>T	gnomAD
rs914090288	p.Ala1208Val	missense variant	-	NC_000009.12:g.95449250G>A	TOPMed,gnomAD
RCV000540835	p.Ala1208Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449251C>A	ClinVar
RCV000685775	p.Ala1208Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449251C>T	ClinVar
rs1259134617	p.Met1209Leu	missense variant	-	NC_000009.12:g.95449248T>A	gnomAD
rs1259134617	p.Met1209Val	missense variant	-	NC_000009.12:g.95449248T>C	gnomAD
rs781062564	p.Pro1210Leu	missense variant	-	NC_000009.12:g.95449244G>A	ExAC,TOPMed,gnomAD
RCV000563841	p.Pro1210Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449244G>A	ClinVar
RCV000199692	p.Pro1210Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449244G>A	ClinVar
RCV000203911	p.Pro1211Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449242G>A	ClinVar
rs139495263	p.Pro1211Ser	missense variant	-	NC_000009.12:g.95449242G>A	ESP,ExAC,TOPMed,gnomAD
RCV000562097	p.Pro1211Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449242G>A	ClinVar
RCV000204570	p.Gly1212Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449239C>T	ClinVar
rs559827048	p.Gly1212Ser	missense variant	-	NC_000009.12:g.95449239C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000564991	p.Gly1212Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449239C>T	ClinVar
rs765296311	p.His1213Leu	missense variant	-	NC_000009.12:g.95449235T>A	ExAC,gnomAD
RCV000686275	p.Thr1214Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449233T>C	ClinVar
rs200029534	p.Thr1214Met	missense variant	-	NC_000009.12:g.95449232G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000226932	p.Thr1214Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449232G>A	ClinVar
RCV000574072	p.Thr1214Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449232G>A	ClinVar
rs1554689404	p.His1215Asn	missense variant	-	NC_000009.12:g.95449230G>T	-
RCV000628356	p.His1215Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449230G>T	ClinVar
rs377608291	p.Ser1216Arg	missense variant	-	NC_000009.12:g.95449225G>T	ESP,ExAC,TOPMed,gnomAD
rs759967074	p.Gly1217Glu	missense variant	-	NC_000009.12:g.95449223C>T	ExAC,gnomAD
rs768986314	p.Gly1217Arg	missense variant	-	NC_000009.12:g.95449224C>T	ExAC,TOPMed,gnomAD
rs1167693193	p.Ser1218Cys	missense variant	-	NC_000009.12:g.95449220G>C	gnomAD
rs774833489	p.Asp1219His	missense variant	-	NC_000009.12:g.95449218C>G	ExAC,TOPMed,gnomAD
rs1375226181	p.Ser1220Phe	missense variant	-	NC_000009.12:g.95449214G>A	TOPMed,gnomAD
rs1375226181	p.Ser1220Cys	missense variant	-	NC_000009.12:g.95449214G>C	TOPMed,gnomAD
rs747181820	p.Asp1222Asn	missense variant	-	NC_000009.12:g.95449209C>T	TOPMed,gnomAD
rs769287098	p.Ser1223Leu	missense variant	-	NC_000009.12:g.95449205G>A	ExAC,gnomAD
rs890755179	p.Ser1226Gly	missense variant	-	NC_000009.12:g.95449197T>C	TOPMed,gnomAD
RCV000554810	p.Thr1229Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449187G>A	ClinVar
rs781080456	p.Thr1229Met	missense variant	-	NC_000009.12:g.95449187G>A	ExAC,TOPMed,gnomAD
rs1462253594	p.Thr1230Lys	missense variant	-	NC_000009.12:g.95449184G>T	TOPMed
rs182045135	p.Val1231Ala	missense variant	-	NC_000009.12:g.95449181A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000123030	p.Val1231Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449181A>G	ClinVar
rs779844193	p.Glu1236Lys	missense variant	-	NC_000009.12:g.95449167C>T	ExAC,gnomAD
rs758728491	p.Arg1239Gln	missense variant	-	NC_000009.12:g.95449157C>T	ExAC,TOPMed,gnomAD
rs758411912	p.Arg1239Trp	missense variant	-	NC_000009.12:g.95449158G>A	ExAC,TOPMed,gnomAD
RCV000562820	p.Arg1239Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449157C>T	ClinVar
RCV000196156	p.Arg1239Gln	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449157C>T	ClinVar
rs758728491	p.Arg1239Pro	missense variant	-	NC_000009.12:g.95449157C>G	ExAC,TOPMed,gnomAD
rs779417284	p.Glu1242Lys	missense variant	-	NC_000009.12:g.95449149C>T	ExAC,gnomAD
rs1173544841	p.Ala1243Val	missense variant	-	NC_000009.12:g.95449145G>A	gnomAD
rs767792734	p.Gln1245Arg	missense variant	-	NC_000009.12:g.95449139T>C	ExAC,TOPMed,gnomAD
RCV000764841	p.Gln1245Arg	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95449139T>C	ClinVar
RCV000472214	p.Gln1245Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449139T>C	ClinVar
rs374011978	p.Gly1246Asp	missense variant	-	NC_000009.12:g.95449136C>T	ESP,ExAC,TOPMed
rs369966295	p.Ala1247Thr	missense variant	-	NC_000009.12:g.95449134C>T	ESP,ExAC,TOPMed,gnomAD
RCV000203685	p.Ala1247Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449134C>T	ClinVar
COSM5078366	p.Ala1247Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95449133G>A	NCI-TCGA Cosmic
rs375857496	p.Gly1248Glu	missense variant	-	NC_000009.12:g.95449130C>T	TOPMed
RCV000460375	p.Gly1248Glu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449130C>T	ClinVar
RCV000473413	p.Gly1248Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449130C>G	ClinVar
rs375857496	p.Gly1248Ala	missense variant	-	NC_000009.12:g.95449130C>G	TOPMed
rs769446796	p.Gly1249Arg	missense variant	-	NC_000009.12:g.95449128C>G	ExAC,gnomAD
RCV000464445	p.Pro1250Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449125G>A	ClinVar
rs1060502265	p.Pro1250Ser	missense variant	-	NC_000009.12:g.95449125G>A	gnomAD
RCV000206545	p.Ala1251Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449121G>T	ClinVar
rs747739936	p.Ala1251Asp	missense variant	-	NC_000009.12:g.95449121G>T	ExAC,TOPMed,gnomAD
RCV000816911	p.His1252Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449119G>C	ClinVar
RCV000563856	p.His1252Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449119G>C	ClinVar
rs780990429	p.His1252Tyr	missense variant	-	NC_000009.12:g.95449119G>A	ExAC,gnomAD
rs780990429	p.His1252Asp	missense variant	-	NC_000009.12:g.95449119G>C	ExAC,gnomAD
rs146390067	p.Gln1253Pro	missense variant	-	NC_000009.12:g.95449115T>G	ESP,ExAC,TOPMed,gnomAD
rs146390067	p.Gln1253Arg	missense variant	-	NC_000009.12:g.95449115T>C	ESP,ExAC,TOPMed,gnomAD
rs779941873	p.Val1254Glu	missense variant	-	NC_000009.12:g.95449112A>T	ExAC,gnomAD
rs1237105700	p.Ile1255Thr	missense variant	-	NC_000009.12:g.95449109A>G	gnomAD
RCV000566181	p.Val1256Met	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449107C>T	ClinVar
rs150850039	p.Val1256Met	missense variant	-	NC_000009.12:g.95449107C>T	1000Genomes,ESP,TOPMed,gnomAD
rs150850039	p.Val1256Leu	missense variant	-	NC_000009.12:g.95449107C>A	1000Genomes,ESP,TOPMed,gnomAD
RCV000121895	p.Val1256Met	missense variant	-	NC_000009.12:g.95449107C>T	ClinVar
RCV000167930	p.Val1256Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449107C>T	ClinVar
rs750397931	p.Glu1257Lys	missense variant	-	NC_000009.12:g.95449104C>T	ExAC,gnomAD
rs148350525	p.Ala1258Thr	missense variant	-	NC_000009.12:g.95449101C>T	ESP,ExAC,TOPMed,gnomAD
RCV000492360	p.Glu1260Ter	nonsense	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449095C>A	ClinVar
rs1131690988	p.Glu1260Ter	stop gained	-	NC_000009.12:g.95449095C>A	-
RCV000560684	p.Pro1262Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449089G>A	ClinVar
rs970679518	p.Pro1262Ser	missense variant	-	NC_000009.12:g.95449089G>A	-
RCV000628404	p.Val1263Ile	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449086C>T	ClinVar
rs752831580	p.Val1263Ile	missense variant	-	NC_000009.12:g.95449086C>T	ExAC,TOPMed,gnomAD
rs144312968	p.Phe1264Leu	missense variant	-	NC_000009.12:g.95449081G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759791227	p.Ala1265Thr	missense variant	-	NC_000009.12:g.95449080C>T	ExAC,TOPMed,gnomAD
RCV000571476	p.Ala1265Thr	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95449080C>T	ClinVar
RCV000168276	p.Ala1265Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449080C>T	ClinVar
rs915635257	p.Ala1265Asp	missense variant	-	NC_000009.12:g.95449079G>T	TOPMed
rs751826546	p.His1266Tyr	missense variant	-	NC_000009.12:g.95449077G>A	ExAC,gnomAD
rs1554689262	p.Thr1268Ser	missense variant	-	NC_000009.12:g.95449070G>C	-
RCV000536869	p.Thr1268Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95449070G>C	ClinVar
NCI-TCGA novel	p.Val1269Ala	missense variant	-	NC_000009.12:g.95447450A>G	NCI-TCGA
rs1342034180	p.Val1270Ala	missense variant	-	NC_000009.12:g.95447447A>G	gnomAD
rs938997251	p.Val1270Ile	missense variant	-	NC_000009.12:g.95447448C>T	TOPMed,gnomAD
rs1342034180	p.Val1270Asp	missense variant	-	NC_000009.12:g.95447447A>T	gnomAD
rs1554688752	p.His1271Tyr	missense variant	-	NC_000009.12:g.95447445G>A	-
RCV000628348	p.His1271Tyr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447445G>A	ClinVar
rs1298467711	p.Pro1272Ser	missense variant	-	NC_000009.12:g.95447442G>A	gnomAD
rs774167762	p.Pro1272Arg	missense variant	-	NC_000009.12:g.95447441G>C	ExAC,gnomAD
rs749244396	p.Glu1273Lys	missense variant	-	NC_000009.12:g.95447439C>T	ExAC,TOPMed,gnomAD
rs781188583	p.Glu1273Ala	missense variant	-	NC_000009.12:g.95447438T>G	ExAC,gnomAD
RCV000535950	p.Glu1273Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447439C>T	ClinVar
rs786204190	p.His1276Asp	missense variant	-	NC_000009.12:g.95447430G>C	-
RCV000168259	p.His1276Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447430G>C	ClinVar
rs1445693994	p.His1276Arg	missense variant	-	NC_000009.12:g.95447429T>C	gnomAD
rs755092661	p.His1277Arg	missense variant	-	NC_000009.12:g.95447426T>C	ExAC,gnomAD
RCV000628410	p.His1277Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447426T>C	ClinVar
rs747128318	p.Pro1279Leu	missense variant	-	NC_000009.12:g.95447420G>A	ExAC,TOPMed,gnomAD
rs1166276004	p.Pro1279Ala	missense variant	-	NC_000009.12:g.95447421G>C	gnomAD
RCV000678481	p.Pro1279Ter	frameshift	Basal cell carcinoma	NC_000009.12:g.95447420_95447421del	ClinVar
RCV000465057	p.Pro1279Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447420G>A	ClinVar
RCV000572367	p.Pro1279Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447420G>A	ClinVar
rs201595274	p.Ser1280Ter	stop gained	-	NC_000009.12:g.95447417G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000590100	p.Ser1280Leu	missense variant	-	NC_000009.12:g.95447417G>A	ClinVar
rs201595274	p.Ser1280Trp	missense variant	-	NC_000009.12:g.95447417G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201595274	p.Ser1280Leu	missense variant	-	NC_000009.12:g.95447417G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000469382	p.Ser1280Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447417G>A	ClinVar
RCV000492217	p.Ser1280Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447417G>A	ClinVar
rs375088607	p.Asn1281Ser	missense variant	-	NC_000009.12:g.95447414T>C	ESP,TOPMed
rs375088607	p.Asn1281Ile	missense variant	-	NC_000009.12:g.95447414T>A	ESP,TOPMed
rs2227968	p.Pro1282Arg	missense variant	-	NC_000009.12:g.95447411G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2227968	p.Pro1282Leu	missense variant	-	NC_000009.12:g.95447411G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000309514	p.Pro1282Leu	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95447411G>A	ClinVar
rs1216794003	p.Gln1285Lys	missense variant	-	NC_000009.12:g.95447403G>T	gnomAD
COSM1315042	p.Gln1285His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447401C>A	NCI-TCGA Cosmic
rs1278213544	p.Pro1286His	missense variant	-	NC_000009.12:g.95447399G>T	gnomAD
rs760216958	p.Ser1292Phe	missense variant	-	NC_000009.12:g.95447381G>A	ExAC,gnomAD
rs767166469	p.Pro1294Leu	missense variant	-	NC_000009.12:g.95447375G>A	ExAC,gnomAD
rs1060502275	p.Pro1295Ser	missense variant	-	NC_000009.12:g.95447373G>A	-
RCV000458528	p.Pro1295Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447373G>A	ClinVar
rs372828014	p.Gly1296Arg	missense variant	-	NC_000009.12:g.95447370C>T	ExAC,TOPMed,gnomAD
RCV000034574	p.Arg1297Gln	missense variant	-	NC_000009.12:g.95447366C>T	ClinVar
rs386833412	p.Arg1297Gln	missense variant	-	NC_000009.12:g.95447366C>T	ExAC,TOPMed,gnomAD
rs372027952	p.Arg1297Trp	missense variant	-	NC_000009.12:g.95447367G>A	ESP,ExAC,TOPMed,gnomAD
RCV000119190	p.Arg1297Trp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447367G>A	ClinVar
rs773133083	p.Gly1299Asp	missense variant	-	NC_000009.12:g.95447360C>T	ExAC,gnomAD
rs769680080	p.Gln1300Leu	missense variant	-	NC_000009.12:g.95447357T>A	ExAC,TOPMed,gnomAD
rs747093389	p.Pro1302Ser	missense variant	-	NC_000009.12:g.95447352G>A	ExAC,gnomAD
rs780042369	p.Pro1302Leu	missense variant	-	NC_000009.12:g.95447351G>A	ExAC,gnomAD
rs779365332	p.Arg1303Leu	missense variant	-	NC_000009.12:g.95447348C>A	ExAC,TOPMed,gnomAD
RCV000612265	p.Arg1303His	missense variant	-	NC_000009.12:g.95447348C>T	ClinVar
RCV000628381	p.Arg1303Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447348C>A	ClinVar
RCV000405518	p.Arg1303Cys	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95447349G>A	ClinVar
RCV000234113	p.Arg1303His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447348C>T	ClinVar
rs779365332	p.Arg1303His	missense variant	-	NC_000009.12:g.95447348C>T	ExAC,TOPMed,gnomAD
rs56102979	p.Arg1303Cys	missense variant	-	NC_000009.12:g.95447349G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs56102979	p.Arg1303Ser	missense variant	-	NC_000009.12:g.95447349G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000764840	p.Arg1303Leu	missense variant	Basal cell carcinoma, multiple (BCC1)	NC_000009.12:g.95447348C>A	ClinVar
rs757702954	p.Arg1304Ser	missense variant	-	NC_000009.12:g.95447344C>A	ExAC,TOPMed,gnomAD
RCV000524899	p.Arg1304Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447344C>A	ClinVar
rs368528885	p.Asp1305Tyr	missense variant	-	NC_000009.12:g.95447343C>A	ExAC,TOPMed,gnomAD
RCV000168289	p.Asp1305Glu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447341G>T	ClinVar
rs786204201	p.Asp1305Glu	missense variant	-	NC_000009.12:g.95447341G>T	TOPMed,gnomAD
rs368528885	p.Asp1305Asn	missense variant	-	NC_000009.12:g.95447343C>T	ExAC,TOPMed,gnomAD
RCV000229142	p.Asp1305Tyr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447343C>A	ClinVar
RCV000200607	p.Asp1305Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447343C>T	ClinVar
rs864622483	p.Pro1306His	missense variant	-	NC_000009.12:g.95447339G>T	TOPMed
RCV000206345	p.Pro1306His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447339G>T	ClinVar
rs1169961504	p.Pro1306Ser	missense variant	-	NC_000009.12:g.95447340G>A	TOPMed
rs574880967	p.Pro1307Ala	missense variant	-	NC_000009.12:g.95447337G>C	ExAC,TOPMed,gnomAD
RCV000119211	p.Pro1307Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447337G>A	ClinVar
RCV000567632	p.Pro1307Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447337G>A	ClinVar
rs181585555	p.Pro1307Arg	missense variant	-	NC_000009.12:g.95447336G>C	1000Genomes,ExAC,gnomAD
rs574880967	p.Pro1307Ser	missense variant	-	NC_000009.12:g.95447337G>A	ExAC,TOPMed,gnomAD
rs181585555	p.Pro1307His	missense variant	-	NC_000009.12:g.95447336G>T	1000Genomes,ExAC,gnomAD
rs181585555	p.Pro1307Leu	missense variant	-	NC_000009.12:g.95447336G>A	1000Genomes,ExAC,gnomAD
RCV000628389	p.Pro1307Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447336G>A	ClinVar
RCV000764839	p.Pro1307Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447337G>A	ClinVar
rs762725821	p.Arg1308Ser	missense variant	-	NC_000009.12:g.95447332T>A	ExAC,TOPMed,gnomAD
rs761353734	p.Arg1308GlnPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95447334_95447335insG	NCI-TCGA,NCI-TCGA Cosmic
COSM1463798	p.Arg1308GluPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95447335G>-	NCI-TCGA Cosmic
rs773043616	p.Gly1310Val	missense variant	-	NC_000009.12:g.95447327C>A	ExAC,TOPMed,gnomAD
rs773043616	p.Gly1310Asp	missense variant	-	NC_000009.12:g.95447327C>T	ExAC,TOPMed,gnomAD
RCV000434505	p.Leu1311Ser	missense variant	-	NC_000009.12:g.95447324A>G	ClinVar
rs1057524645	p.Leu1311Ser	missense variant	-	NC_000009.12:g.95447324A>G	TOPMed
rs761688859	p.Leu1311Phe	missense variant	-	NC_000009.12:g.95447323C>A	ExAC,gnomAD
rs1360926879	p.Trp1312Cys	missense variant	-	NC_000009.12:g.95447320C>A	gnomAD
rs369772095	p.Pro1313Ser	missense variant	-	NC_000009.12:g.95447319G>A	ESP,ExAC
rs574856671	p.Pro1314Ser	missense variant	-	NC_000009.12:g.95447316G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000230787	p.Pro1314Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447316G>A	ClinVar
rs574856671	p.Pro1314Thr	missense variant	-	NC_000009.12:g.95447316G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1400282737	p.Pro1314Leu	missense variant	-	NC_000009.12:g.95447315G>A	TOPMed,gnomAD
rs746022197	p.Pro1315Ser	missense variant	-	NC_000009.12:g.95447313G>A	ExAC,TOPMed,gnomAD
rs357564	p.Pro1315His	missense variant	-	NC_000009.12:g.95447312G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000034575	p.Pro1315Leu	missense variant	-	NC_000009.12:g.95447312G>A	ClinVar
RCV000565121	p.Pro1315Arg	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447312G>C	ClinVar
rs746022197	p.Pro1315Ala	missense variant	-	NC_000009.12:g.95447313G>C	ExAC,TOPMed,gnomAD
rs357564	p.Pro1315Arg	missense variant	-	NC_000009.12:g.95447312G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs357564	p.Pro1315Leu	missense variant	-	NC_000009.12:g.95447312G>A	UniProt,dbSNP
VAR_010983	p.Pro1315Leu	missense variant	-	NC_000009.12:g.95447312G>A	UniProt
rs357564	p.Pro1315Leu	missense variant	-	NC_000009.12:g.95447312G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000466958	p.Pro1315His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447312G>T	ClinVar
RCV000492103	p.Pro1315Leu	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447312G>A	ClinVar
RCV000285014	p.Pro1315Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447312G>A	ClinVar
RCV000078463	p.Pro1315Leu	missense variant	-	NC_000009.12:g.95447312G>A	ClinVar
RCV000378947	p.Pro1315Leu	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95447312G>A	ClinVar
rs147067171	p.Tyr1316Cys	missense variant	-	NC_000009.12:g.95447309T>C	ESP,ExAC,TOPMed,gnomAD
RCV000588636	p.Tyr1316Cys	missense variant	-	NC_000009.12:g.95447309T>C	ClinVar
COSM1463794	p.Tyr1316ThrPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95447311G>-	NCI-TCGA Cosmic
rs1482005246	p.Arg1317Gly	missense variant	-	NC_000009.12:g.95447307T>C	gnomAD
rs536440590	p.Pro1318Arg	missense variant	-	NC_000009.12:g.95447303G>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000469995	p.Pro1318Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447303G>C	ClinVar
RCV000201244	p.Pro1318Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447303G>A	ClinVar
rs536440590	p.Pro1318Leu	missense variant	-	NC_000009.12:g.95447303G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000279134	p.Arg1319Cys	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95447301G>A	ClinVar
RCV000526107	p.Arg1319His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447300C>T	ClinVar
RCV000567082	p.Arg1319His	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447300C>T	ClinVar
rs572658914	p.Arg1319His	missense variant	-	NC_000009.12:g.95447300C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs375998275	p.Arg1319Cys	missense variant	-	NC_000009.12:g.95447301G>A	ESP,ExAC,TOPMed,gnomAD
rs572658914	p.Arg1319Leu	missense variant	-	NC_000009.12:g.95447300C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000228335	p.Arg1319Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447301G>A	ClinVar
RCV000628425	p.Arg1319Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447300C>A	ClinVar
COSM3780217	p.Arg1320Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447297C>T	NCI-TCGA Cosmic
rs1054532927	p.Ala1322Gly	missense variant	-	NC_000009.12:g.95447291G>C	TOPMed
rs1054532927	p.Ala1322Val	missense variant	-	NC_000009.12:g.95447291G>A	TOPMed
RCV000538812	p.Ser1326Phe	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447279G>A	ClinVar
rs764964224	p.Ser1326Phe	missense variant	-	NC_000009.12:g.95447279G>A	ExAC,gnomAD
rs1163256164	p.Thr1327Ile	missense variant	-	NC_000009.12:g.95447276G>A	TOPMed
rs761753681	p.Thr1327Ala	missense variant	-	NC_000009.12:g.95447277T>C	ExAC,gnomAD
rs1394160194	p.Glu1328Asp	missense variant	-	NC_000009.12:g.95447272T>G	TOPMed
NCI-TCGA novel	p.Gly1329Trp	missense variant	-	NC_000009.12:g.95447271C>A	NCI-TCGA
RCV000695081	p.His1330Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447267T>C	ClinVar
rs150373546	p.Ser1331Phe	missense variant	-	NC_000009.12:g.95447264G>A	ESP,ExAC,TOPMed,gnomAD
rs150373546	p.Ser1331Cys	missense variant	-	NC_000009.12:g.95447264G>C	ESP,ExAC,TOPMed,gnomAD
RCV000707396	p.Ser1331Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447264G>C	ClinVar
RCV000570731	p.Ser1331Cys	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447264G>C	ClinVar
RCV000168137	p.Ser1331Phe	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447264G>A	ClinVar
rs1160872643	p.Pro1333Ser	missense variant	-	NC_000009.12:g.95447259G>A	gnomAD
RCV000167997	p.Ser1334Asn	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447255C>T	ClinVar
rs200620662	p.Ser1334Asn	missense variant	-	NC_000009.12:g.95447255C>T	ESP,ExAC,TOPMed,gnomAD
rs1420657376	p.Ser1334Gly	missense variant	-	NC_000009.12:g.95447256T>C	gnomAD
rs200620662	p.Ser1334Ile	missense variant	-	NC_000009.12:g.95447255C>A	ESP,ExAC,TOPMed,gnomAD
rs1231336202	p.Asn1335Ser	missense variant	-	NC_000009.12:g.95447252T>C	TOPMed
RCV000527574	p.Arg1338His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447243C>T	ClinVar
rs374346190	p.Arg1338Cys	missense variant	-	NC_000009.12:g.95447244G>A	ESP,ExAC,TOPMed,gnomAD
rs771238114	p.Arg1338His	missense variant	-	NC_000009.12:g.95447243C>T	ExAC,TOPMed,gnomAD
RCV000555828	p.Arg1338Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447244G>A	ClinVar
rs1181929625	p.Trp1339Arg	missense variant	-	NC_000009.12:g.95447241A>G	gnomAD
rs1485371101	p.Gly1340Cys	missense variant	-	NC_000009.12:g.95447238C>A	gnomAD
rs1218728112	p.Gly1340Asp	missense variant	-	NC_000009.12:g.95447237C>T	gnomAD
rs748609458	p.Pro1341Leu	missense variant	-	NC_000009.12:g.95447234G>A	ExAC,gnomAD
rs770055624	p.Pro1341Ser	missense variant	-	NC_000009.12:g.95447235G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1341Ala	missense variant	-	NC_000009.12:g.95447235G>C	NCI-TCGA
rs575146278	p.Arg1342His	missense variant	-	NC_000009.12:g.95447231C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000764838	p.Arg1342Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447232G>A	ClinVar
rs781539921	p.Arg1342Cys	missense variant	-	NC_000009.12:g.95447232G>A	ExAC,TOPMed,gnomAD
RCV000232371	p.Arg1342His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447231C>T	ClinVar
RCV000470683	p.Arg1342Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447232G>A	ClinVar
rs757997132	p.Gly1343Glu	missense variant	-	NC_000009.12:g.95447228C>T	ExAC
rs200100952	p.Gly1343Arg	missense variant	-	NC_000009.12:g.95447229C>T	ExAC,TOPMed,gnomAD
RCV000481212	p.Gly1343Arg	missense variant	-	NC_000009.12:g.95447229C>T	ClinVar
rs765017975	p.Ala1344Thr	missense variant	-	NC_000009.12:g.95447226C>T	ExAC,TOPMed,gnomAD
RCV000471734	p.Ala1344Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447225G>A	ClinVar
RCV000468861	p.Ala1344Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447226C>A	ClinVar
rs765017975	p.Ala1344Ser	missense variant	-	NC_000009.12:g.95447226C>A	ExAC,TOPMed,gnomAD
rs1060502289	p.Ala1344Val	missense variant	-	NC_000009.12:g.95447225G>A	-
RCV000386162	p.Arg1345Cys	missense variant	Holoprosencephaly sequence (HPE)	NC_000009.12:g.95447223G>A	ClinVar
RCV000263682	p.Arg1345Cys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447223G>A	ClinVar
RCV000198754	p.Arg1345His	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447222C>T	ClinVar
rs556901417	p.Arg1345Gly	missense variant	-	NC_000009.12:g.95447223G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs766315655	p.Arg1345His	missense variant	-	NC_000009.12:g.95447222C>T	ExAC,TOPMed,gnomAD
rs556901417	p.Arg1345Cys	missense variant	-	NC_000009.12:g.95447223G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1554688418	p.Ser1346Phe	missense variant	-	NC_000009.12:g.95447219G>A	-
RCV000552802	p.Ser1346Phe	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447219G>A	ClinVar
RCV000628366	p.His1347Gln	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447215G>T	ClinVar
rs760724368	p.His1347Tyr	missense variant	-	NC_000009.12:g.95447217G>A	ExAC,gnomAD
rs774524114	p.His1347Gln	missense variant	-	NC_000009.12:g.95447215G>T	ExAC,TOPMed,gnomAD
rs766576144	p.Asn1348His	missense variant	-	NC_000009.12:g.95447214T>G	ExAC,TOPMed,gnomAD
RCV000477533	p.Asn1348Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447214T>C	ClinVar
rs766576144	p.Asn1348Asp	missense variant	-	NC_000009.12:g.95447214T>C	ExAC,TOPMed,gnomAD
rs371943557	p.Asn1348Ser	missense variant	-	NC_000009.12:g.95447213T>C	ESP,ExAC,gnomAD
rs1412873206	p.Asn1348Lys	missense variant	-	NC_000009.12:g.95447212G>T	TOPMed
RCV000205121	p.Asn1348Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447213T>C	ClinVar
RCV000764837	p.Asn1348Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447213T>C	ClinVar
rs773298544	p.Pro1349Leu	missense variant	-	NC_000009.12:g.95447210G>A	ExAC,gnomAD
RCV000463140	p.Pro1349Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447210G>A	ClinVar
rs140417636	p.Arg1350Trp	missense variant	-	NC_000009.12:g.95447208G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140417636	p.Arg1350Gly	missense variant	-	NC_000009.12:g.95447208G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs978722722	p.Arg1350Gln	missense variant	-	NC_000009.12:g.95447207C>T	TOPMed
RCV000197821	p.Arg1350Trp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447208G>A	ClinVar
RCV000168033	p.Asn1351Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447205T>C	ClinVar
RCV000571329	p.Asn1351Asp	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447205T>C	ClinVar
rs786204103	p.Asn1351Asp	missense variant	-	NC_000009.12:g.95447205T>C	gnomAD
RCV000686744	p.Asn1351Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447203G>T	ClinVar
RCV000764835	p.Asn1351Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447205T>C	ClinVar
rs1022984391	p.Pro1352Arg	missense variant	-	NC_000009.12:g.95447201G>C	TOPMed
COSM1111418	p.Pro1352Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447202G>T	NCI-TCGA Cosmic
rs777096311	p.Ala1353Val	missense variant	-	NC_000009.12:g.95447198G>A	ExAC,TOPMed,gnomAD
rs1304567972	p.Ala1353Thr	missense variant	-	NC_000009.12:g.95447199C>T	TOPMed
RCV000206264	p.Thr1355Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447193T>C	ClinVar
rs864622456	p.Thr1355Ala	missense variant	-	NC_000009.12:g.95447193T>C	gnomAD
rs779482395	p.Thr1355Ile	missense variant	-	NC_000009.12:g.95447192G>A	ExAC,gnomAD
rs1484373312	p.Met1357Thr	missense variant	-	NC_000009.12:g.95447186A>G	TOPMed
RCV000533630	p.Met1357Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447187T>A	ClinVar
rs757909121	p.Met1357Leu	missense variant	-	NC_000009.12:g.95447187T>A	ExAC,gnomAD
RCV000573733	p.Met1357Val	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447187T>C	ClinVar
rs757909121	p.Met1357Val	missense variant	-	NC_000009.12:g.95447187T>C	ExAC,gnomAD
rs959437650	p.Gly1358Ser	missense variant	-	NC_000009.12:g.95447184C>T	TOPMed
NCI-TCGA novel	p.Gly1358Val	missense variant	-	NC_000009.12:g.95447183C>A	NCI-TCGA
NCI-TCGA novel	p.Gly1358Asp	missense variant	-	NC_000009.12:g.95447183C>T	NCI-TCGA
rs745451899	p.Ser1359Ile	missense variant	-	NC_000009.12:g.95447180C>A	ExAC,TOPMed,gnomAD
rs745451899	p.Ser1359Asn	missense variant	-	NC_000009.12:g.95447180C>T	ExAC,TOPMed,gnomAD
rs753535745	p.Val1361Leu	missense variant	-	NC_000009.12:g.95447175C>G	ExAC,TOPMed,gnomAD
rs753535745	p.Val1361Met	missense variant	-	NC_000009.12:g.95447175C>T	ExAC,TOPMed,gnomAD
RCV000473480	p.Val1361Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447175C>T	ClinVar
rs777731495	p.Pro1362Leu	missense variant	-	NC_000009.12:g.95447171G>A	ExAC,gnomAD
rs767625820	p.Gly1363Ser	missense variant	-	NC_000009.12:g.95447169C>T	ExAC,TOPMed,gnomAD
RCV000551992	p.Gly1363Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447169C>T	ClinVar
rs767625820	p.Gly1363Arg	missense variant	-	NC_000009.12:g.95447169C>G	ExAC,TOPMed,gnomAD
rs1397510746	p.Cys1365Tyr	missense variant	-	NC_000009.12:g.95447162C>T	gnomAD
RCV000690513	p.Cys1365Tyr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447162C>T	ClinVar
rs762925808	p.Thr1369Ser	missense variant	-	NC_000009.12:g.95447150G>C	ExAC,gnomAD
RCV000231544	p.Thr1372Met	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447141G>A	ClinVar
rs765348942	p.Thr1372Met	missense variant	-	NC_000009.12:g.95447141G>A	ExAC,TOPMed,gnomAD
rs1267726258	p.Ala1373Thr	missense variant	-	NC_000009.12:g.95447139C>T	gnomAD
rs769022340	p.Ala1375Ser	missense variant	-	NC_000009.12:g.95447133C>A	ExAC,gnomAD
RCV000532573	p.Ala1375Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447133C>A	ClinVar
rs769022340	p.Ala1375Thr	missense variant	-	NC_000009.12:g.95447133C>T	ExAC,gnomAD
rs745337014	p.Val1377Met	missense variant	-	NC_000009.12:g.95447127C>T	ExAC,TOPMed,gnomAD
rs111481152	p.Ala1380Thr	missense variant	-	NC_000009.12:g.95447118C>T	ESP,ExAC,TOPMed,gnomAD
rs777641179	p.Ala1380Val	missense variant	-	NC_000009.12:g.95447117G>A	ExAC,gnomAD
RCV000780653	p.Val1381Met	missense variant	-	NC_000009.12:g.95447115C>T	ClinVar
rs187104739	p.Val1381Leu	missense variant	-	NC_000009.12:g.95447115C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs187104739	p.Val1381Met	missense variant	-	NC_000009.12:g.95447115C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs377484697	p.His1382Tyr	missense variant	-	NC_000009.12:g.95447112G>A	ESP,TOPMed,gnomAD
RCV000468539	p.His1382Tyr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447112G>A	ClinVar
rs571030658	p.Pro1383Leu	missense variant	-	NC_000009.12:g.95447108G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000696239	p.Pro1383Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447108G>A	ClinVar
rs146447673	p.Pro1384Leu	missense variant	-	NC_000009.12:g.95447105G>A	ESP,ExAC,TOPMed,gnomAD
rs754065147	p.Pro1385Leu	missense variant	-	NC_000009.12:g.95447102G>A	ExAC,gnomAD
COSM3909145	p.Pro1385Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447103G>A	NCI-TCGA Cosmic
rs915925601	p.Val1386Ile	missense variant	-	NC_000009.12:g.95447100C>T	gnomAD
rs552921967	p.Pro1387Leu	missense variant	-	NC_000009.12:g.95447096G>A	1000Genomes
rs587778631	p.Gly1388Arg	missense variant	-	NC_000009.12:g.95447094C>T	ExAC,TOPMed,gnomAD
RCV000121900	p.Gly1388Arg	missense variant	-	NC_000009.12:g.95447094C>T	ClinVar
rs1180812915	p.Pro1389Ser	missense variant	-	NC_000009.12:g.95447091G>A	gnomAD
NCI-TCGA novel	p.Pro1389His	missense variant	-	NC_000009.12:g.95447090G>T	NCI-TCGA
rs1239904766	p.Gly1390Arg	missense variant	-	NC_000009.12:g.95447088C>G	gnomAD
RCV000034577	p.Arg1391Trp	missense variant	-	NC_000009.12:g.95447085G>A	ClinVar
RCV000168115	p.Arg1391Trp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447085G>A	ClinVar
RCV000210573	p.Arg1391Trp	missense variant	Inborn genetic diseases	NC_000009.12:g.95447085G>A	ClinVar
RCV000438185	p.Arg1391Gln	missense variant	-	NC_000009.12:g.95447084C>T	ClinVar
rs45535032	p.Arg1391Trp	missense variant	-	NC_000009.12:g.95447085G>A	ESP,ExAC,TOPMed,gnomAD
rs773676486	p.Arg1391Gln	missense variant	-	NC_000009.12:g.95447084C>T	ExAC,TOPMed,gnomAD
rs1388774785	p.Pro1393Ser	missense variant	-	NC_000009.12:g.95447079G>A	TOPMed,gnomAD
rs1368334005	p.Pro1393Arg	missense variant	-	NC_000009.12:g.95447078G>C	gnomAD
RCV000546505	p.Pro1393Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447078G>C	ClinVar
rs1297685477	p.Arg1394Ter	stop gained	-	NC_000009.12:g.95447076G>A	TOPMed,gnomAD
RCV000692688	p.Arg1394Gln	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447075C>T	ClinVar
RCV000702535	p.Arg1394Ter	nonsense	Gorlin syndrome (BCNS)	NC_000009.12:g.95447076G>A	ClinVar
RCV000574713	p.Arg1394Gln	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447075C>T	ClinVar
rs748812637	p.Arg1394Gln	missense variant	-	NC_000009.12:g.95447075C>T	ExAC,TOPMed,gnomAD
rs375626922	p.Gly1395Arg	missense variant	-	NC_000009.12:g.95447073C>T	ESP,ExAC,TOPMed,gnomAD
rs375626922	p.Gly1395Trp	missense variant	-	NC_000009.12:g.95447073C>A	ESP,ExAC,TOPMed,gnomAD
rs1212282721	p.Gly1395Val	missense variant	-	NC_000009.12:g.95447072C>A	TOPMed
RCV000233151	p.Gly1395Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447073C>T	ClinVar
RCV000466286	p.Gly1396Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447070C>T	ClinVar
rs747923595	p.Gly1396Glu	missense variant	-	NC_000009.12:g.95447069C>T	ExAC,gnomAD
rs1060502276	p.Gly1396Arg	missense variant	-	NC_000009.12:g.95447070C>T	-
NCI-TCGA novel	p.Gly1396AspPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95447069C>-	NCI-TCGA
rs1372936088	p.Cys1398Arg	missense variant	-	NC_000009.12:g.95447064A>G	gnomAD
rs1275384199	p.Pro1399Ser	missense variant	-	NC_000009.12:g.95447061G>A	TOPMed
rs786204094	p.Gly1400Asp	missense variant	-	NC_000009.12:g.95447057C>T	gnomAD
RCV000168010	p.Gly1400Asp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447057C>T	ClinVar
COSM5939955	p.Pro1402Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447051G>A	NCI-TCGA Cosmic
COSM3659789	p.Pro1402Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000009.12:g.95447052G>A	NCI-TCGA Cosmic
RCV000458089	p.Thr1404Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447046T>C	ClinVar
rs201873008	p.Thr1404Ala	missense variant	-	NC_000009.12:g.95447046T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs530172841	p.Asp1405Asn	missense variant	-	NC_000009.12:g.95447043C>T	1000Genomes,ExAC
rs1028469311	p.His1406Arg	missense variant	-	NC_000009.12:g.95447039T>C	TOPMed
rs372558350	p.His1406Gln	missense variant	-	NC_000009.12:g.95447038G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000561478	p.Gly1407Ser	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447037C>T	ClinVar
rs56161606	p.Gly1407Ser	missense variant	-	NC_000009.12:g.95447037C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1554688143	p.Glu1410Lys	missense variant	-	NC_000009.12:g.95447028C>T	-
RCV000547998	p.Glu1410Lys	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447028C>T	ClinVar
RCV000528559	p.Asp1411ThrGlu	insertion	Gorlin syndrome (BCNS)	NC_000009.12:g.95447029_95447030insGTCTCA	ClinVar
rs774913538	p.Asp1411Gly	missense variant	-	NC_000009.12:g.95447024T>C	ExAC,gnomAD
rs759892989	p.Asp1411Asn	missense variant	-	NC_000009.12:g.95447025C>T	ExAC
rs766849993	p.Pro1412Leu	missense variant	-	NC_000009.12:g.95447021G>A	ExAC,TOPMed,gnomAD
rs1554688130	p.Pro1412Ala	missense variant	-	NC_000009.12:g.95447022G>C	-
RCV000536739	p.Pro1412Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447022G>C	ClinVar
rs772886108	p.His1413Tyr	missense variant	-	NC_000009.12:g.95447019G>A	ExAC,gnomAD
rs149667902	p.Val1414Leu	missense variant	-	NC_000009.12:g.95447016C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1481818673	p.Val1414Ala	missense variant	-	NC_000009.12:g.95447015A>G	gnomAD
RCV000612566	p.Val1414Met	missense variant	-	NC_000009.12:g.95447016C>T	ClinVar
rs149667902	p.Val1414Met	missense variant	-	NC_000009.12:g.95447016C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1428087287	p.Pro1415Leu	missense variant	-	NC_000009.12:g.95447012G>A	TOPMed
rs1554688102	p.Phe1416Leu	missense variant	-	NC_000009.12:g.95447010A>G	-
RCV000628387	p.Phe1416Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447010A>G	ClinVar
NCI-TCGA novel	p.Phe1416Leu	missense variant	-	NC_000009.12:g.95447008G>T	NCI-TCGA
rs776235476	p.His1417Asn	missense variant	-	NC_000009.12:g.95447007G>T	ExAC,TOPMed,gnomAD
rs371960721	p.His1417Gln	missense variant	-	NC_000009.12:g.95447005G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369882883	p.Val1418Ile	missense variant	-	NC_000009.12:g.95447004C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000484134	p.Val1418Ile	missense variant	-	NC_000009.12:g.95447004C>T	ClinVar
RCV000561736	p.Val1418Ile	missense variant	Hereditary cancer-predisposing syndrome	NC_000009.12:g.95447004C>T	ClinVar
rs139942632	p.Arg1419Trp	missense variant	-	NC_000009.12:g.95447001G>A	ESP,ExAC,TOPMed,gnomAD
rs372686352	p.Arg1419Gln	missense variant	-	NC_000009.12:g.95447000C>T	ESP,ExAC,TOPMed,gnomAD
RCV000549207	p.Arg1419Gln	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95447000C>T	ClinVar
RCV000206077	p.Cys1420Arg	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446998A>G	ClinVar
rs864622068	p.Cys1420Arg	missense variant	-	NC_000009.12:g.95446998A>G	-
rs913816675	p.Cys1420Tyr	missense variant	-	NC_000009.12:g.95446997C>T	TOPMed
rs575473447	p.Glu1421Lys	missense variant	-	NC_000009.12:g.95446995C>T	1000Genomes
rs1246323077	p.Arg1422Gly	missense variant	-	NC_000009.12:g.95446992T>C	gnomAD
RCV000525472	p.Arg1422Gly	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446992T>C	ClinVar
rs1213795569	p.Arg1423Met	missense variant	-	NC_000009.12:g.95446988C>A	TOPMed
RCV000121898	p.Ser1425Leu	missense variant	-	NC_000009.12:g.95446982G>A	ClinVar
rs587778630	p.Ser1425Leu	missense variant	-	NC_000009.12:g.95446982G>A	ExAC,TOPMed,gnomAD
rs752919871	p.Val1427Met	missense variant	-	NC_000009.12:g.95446977C>T	ExAC,TOPMed,gnomAD
rs1060502283	p.Val1427Ala	missense variant	-	NC_000009.12:g.95446976A>G	-
rs752919871	p.Val1427Leu	missense variant	-	NC_000009.12:g.95446977C>G	ExAC,TOPMed,gnomAD
RCV000456502	p.Val1427Ala	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446976A>G	ClinVar
rs1404752728	p.Glu1428Asp	missense variant	-	NC_000009.12:g.95446972T>G	gnomAD
NCI-TCGA novel	p.Val1429SerPheSerTerUnkUnk	frameshift	-	NC_000009.12:g.95446971C>-	NCI-TCGA
rs1043260017	p.Ile1430Val	missense variant	-	NC_000009.12:g.95446968T>C	gnomAD
rs751915096	p.Ile1430Met	missense variant	-	NC_000009.12:g.95446966A>C	ExAC,gnomAD
RCV000628413	p.Ile1430Thr	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446967A>G	ClinVar
rs556722778	p.Ile1430Thr	missense variant	-	NC_000009.12:g.95446967A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs766876016	p.Glu1431Lys	missense variant	-	NC_000009.12:g.95446965C>T	ExAC,gnomAD
rs772802013	p.Gln1433Arg	missense variant	-	NC_000009.12:g.95446958T>C	ExAC,TOPMed,gnomAD
RCV000555193	p.Gln1433Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446958T>A	ClinVar
rs772802013	p.Gln1433Leu	missense variant	-	NC_000009.12:g.95446958T>A	ExAC,TOPMed,gnomAD
RCV000761023	p.Val1435Met	missense variant	Retinoblastoma (RB1)	NC_000009.12:g.95446953C>T	ClinVar
rs587778632	p.Val1435Met	missense variant	-	NC_000009.12:g.95446953C>T	ExAC,gnomAD
COSM6116552	p.Glu1436Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000009.12:g.95446950C>A	NCI-TCGA Cosmic
rs1309129743	p.Cys1437Arg	missense variant	-	NC_000009.12:g.95446947A>G	gnomAD
rs150696398	p.Glu1438Gly	missense variant	-	NC_000009.12:g.95446943T>C	ESP,TOPMed,gnomAD
rs768254901	p.Glu1438Lys	missense variant	-	NC_000009.12:g.95446944C>T	ExAC,TOPMed,gnomAD
RCV000205005	p.Glu1438Gly	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446943T>C	ClinVar
VAR_010984	p.Glu1438Asp	Missense	Basal cell nevus syndrome (BCNS) [MIM:109400]	-	UniProt
RCV000693002	p.Arg1440Gly	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446938T>C	ClinVar
rs1354112241	p.Arg1440Lys	missense variant	-	NC_000009.12:g.95446937C>T	TOPMed
rs746800536	p.Pro1441Ser	missense variant	-	NC_000009.12:g.95446935G>A	ExAC,TOPMed,gnomAD
rs775192032	p.Pro1441Leu	missense variant	-	NC_000009.12:g.95446934G>A	ExAC,gnomAD
RCV000198957	p.Pro1441Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446935G>A	ClinVar
RCV000034579	p.Arg1442Gln	missense variant	-	NC_000009.12:g.95446931C>T	ClinVar
RCV000541673	p.Arg1442Leu	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446931C>A	ClinVar
rs56023271	p.Arg1442Leu	missense variant	-	NC_000009.12:g.95446931C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs56023271	p.Arg1442Gln	missense variant	-	NC_000009.12:g.95446931C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000199648	p.Arg1442Trp	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446932G>A	ClinVar
rs143464326	p.Arg1442Trp	missense variant	-	NC_000009.12:g.95446932G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000203681	p.Gly1443Val	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446928C>A	ClinVar
rs864622100	p.Gly1443Val	missense variant	-	NC_000009.12:g.95446928C>A	gnomAD
rs1347860599	p.Ser1444Asn	missense variant	-	NC_000009.12:g.95446925C>T	gnomAD
rs770268061	p.Ser1445Asn	missense variant	-	NC_000009.12:g.95446922C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1445Arg	missense variant	-	NC_000009.12:g.95446921G>T	NCI-TCGA
NCI-TCGA novel	p.Ser1446Tyr	missense variant	-	NC_000009.12:g.95446919G>T	NCI-TCGA
rs972576439	p.Asn1447Ser	missense variant	-	NC_000009.12:g.95446916T>C	TOPMed
RCV000628353	p.Asn1447Ser	missense variant	Gorlin syndrome (BCNS)	NC_000009.12:g.95446916T>C	ClinVar

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0000768	Congenital Abnormality	group	BEFREE
C0001206	Acromegaly	disease	BEFREE
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0002448	Ameloblastoma	disease	BEFREE;LHGDN
C0002793	Anaplasia	disease	BEFREE
C0003803	Arnold Chiari Malformation	disease	HPO
C0004096	Asthma	disease	BEFREE
C0004135	Ataxia Telangiectasia	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0004779	Basal Cell Nevus Syndrome	disease	BEFREE;CLINGEN;CLINVAR;CTD_human;LHGDN;MGD;ORPHANET;UNIPROT
C0005612	Birth Weight	phenotype	GWASCAT
C0005684	Malignant neoplasm of urinary bladder	disease	BEFREE
C0005695	Bladder Neoplasm	group	BEFREE
C0005890	Body Height	phenotype	GWASCAT;GWASDB
C0006118	Brain Neoplasms	group	BEFREE;CTD_human
C0006142	Malignant neoplasm of breast	disease	BEFREE
C0006826	Malignant Neoplasms	group	HPO
C0007114	Malignant neoplasm of skin	disease	BEFREE;CTD_human
C0007115	Malignant neoplasm of thyroid	disease	BEFREE
C0007117	Basal cell carcinoma	disease	CGI;CTD_human;HPO;LHGDN;MGD
C0007124	Noninfiltrating Intraductal Carcinoma	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007133	Carcinoma, Papillary	disease	BEFREE;LHGDN
C0007134	Renal Cell Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE;UNIPROT
C0007138	Carcinoma, Transitional Cell	disease	BEFREE
C0007140	Carcinosarcoma	disease	BEFREE
C0007762	Cerebellar Neoplasms	group	BEFREE
C0007847	Malignant tumor of cervix	disease	BEFREE
C0008073	Developmental Disabilities	group	BEFREE
C0008476	Chondromatosis, Synovial	disease	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE;LHGDN
C0008626	Congenital chromosomal disease	group	BEFREE
C0008924	Cleft upper lip	disease	BEFREE;CTD_human;GWASCAT;HPO
C0008925	Cleft Palate	disease	CTD_human
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE;LHGDN
C0010709	Cyst	phenotype	BEFREE
C0011428	Dentigerous Cyst	disease	BEFREE
C0011649	Dermoid Cyst	disease	BEFREE;LHGDN
C0013080	Down Syndrome	disease	BEFREE
C0014544	Epilepsy	disease	BEFREE;HPO
C0016045	fibroma	disease	BEFREE;LHGDN
C0016529	Forced expiratory volume function	phenotype	GWASDB
C0017601	Glaucoma	disease	HPO
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018213	Graves Disease	disease	BEFREE
C0019247	Hereditary Diseases	group	BEFREE
C0019322	Umbilical hernia	phenotype	HPO
C0019569	Hirschsprung Disease	disease	BEFREE
C0019693	HIV Infections	group	BEFREE;CTD_human
C0020255	Hydrocephalus	disease	GENOMICS_ENGLAND;HPO
C0020456	Hyperglycemia	disease	BEFREE;LHGDN
C0020534	Orbital separation excessive	phenotype	HPO
C0021390	Inflammatory Bowel Diseases	group	BEFREE
C0022361	Jaw Cysts	phenotype	BEFREE
C0022665	Kidney Neoplasm	disease	BEFREE
C0022821	Kyphosis deformity of spine	phenotype	HPO
C0023267	Fibroid Tumor	group	BEFREE
C0023418	leukemia	disease	BEFREE
C0023434	Chronic Lymphocytic Leukemia	disease	BEFREE
C0023473	Myeloid Leukemia, Chronic	disease	BEFREE
C0023903	Liver neoplasms	group	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025149	Medulloblastoma	disease	BEFREE;CGI;CTD_human;HPO;LHGDN;MGD
C0025202	melanoma	disease	BEFREE
C0025267	Multiple Endocrine Neoplasia Type 1	disease	BEFREE
C0025362	Mental Retardation	disease	HPO
C0025958	Microcephaly	disease	BEFREE
C0026010	Microphthalmos	disease	HPO
C0026034	Microstomia	disease	HPO
C0026470	Monoclonal Gammopathy of Undetermined Significance	disease	BEFREE
C0026764	Multiple Myeloma	disease	BEFREE
C0026827	Muscle hypotonia	phenotype	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027651	Neoplasms	group	HPO
C0027666	Neoplasms, Radiation-Induced	group	BEFREE
C0027672	Neoplastic Syndromes, Hereditary	group	CLINVAR
C0027708	Nephroblastoma	disease	BEFREE
C0027794	Neural Tube Defects	group	BEFREE
C0027819	Neuroblastoma	group	BEFREE
C0027831	Neurofibromatosis 1	disease	BEFREE
C0027960	Nevus	disease	BEFREE
C0027962	Melanocytic nevus	disease	BEFREE;HPO
C0028879	Odontogenic Cysts	disease	BEFREE;LHGDN
C0028880	Odontogenic Tumors	group	BEFREE;LHGDN
C0029408	Degenerative polyarthritis	disease	BEFREE
C0029427	Synovial osteochondromatosis	disease	BEFREE
C0029925	Ovarian Carcinoma	disease	BEFREE
C0030297	Pancreatic Neoplasm	disease	BEFREE;CTD_human
C0030299	Pancreatic Pseudocyst	disease	BEFREE
C0032580	Adenomatous Polyposis Coli	disease	BEFREE
C0033036	Atrial Premature Complexes	disease	BEFREE
C0033578	Prostatic Neoplasms	group	BEFREE
C0034069	Pulmonary Fibrosis	disease	BEFREE
C0035112	Reoviridae Infections	group	BEFREE
C0035309	Retinal Diseases	group	HPO
C0035411	Rhabdomyoma	disease	BEFREE
C0035412	Rhabdomyosarcoma	disease	BEFREE;CTD_human
C0036572	Seizures	phenotype	HPO
C0037286	Skin Neoplasms	group	BEFREE;CTD_human
C0037293	Skin tag	phenotype	HPO
C0037769	West Syndrome	disease	LHGDN
C0037932	Curvature of spine	phenotype	HPO
C0038356	Stomach Neoplasms	group	BEFREE;LHGDN
C0038379	Strabismus	disease	HPO
C0039747	Thecoma	disease	BEFREE
C0040128	Thyroid Diseases	group	BEFREE
C0040136	Thyroid Neoplasm	disease	BEFREE
C0040137	Thyroid Nodule	disease	BEFREE
C0040147	Thyroiditis	disease	BEFREE
C0041107	Trisomy	group	BEFREE
C0042133	Uterine Fibroids	group	BEFREE
C0043346	Xeroderma Pigmentosum	disease	BEFREE
C0079541	Holoprosencephaly	disease	BEFREE;GENOMICS_ENGLAND
C0080174	Spina Bifida Occulta	disease	BEFREE
C0080178	Spina Bifida	disease	BEFREE;HPO
C0086543	Cataract	disease	GENOMICS_ENGLAND;HPO
C0149521	Pancreatitis, Chronic	disease	BEFREE
C0149951	Ovarian Fibromata	disease	BEFREE;HPO
C0151468	Thyroid Gland Follicular Adenoma	disease	BEFREE
C0152421	Macrotia	disease	HPO
C0152427	Polydactyly	disease	HPO
C0152438	Sprengel deformity	disease	HPO
C0153633	Malignant neoplasm of brain	disease	CTD_human
C0153676	Secondary malignant neoplasm of lung	disease	BEFREE
C0155285	Orbital cyst	phenotype	HPO
C0156344	Endometriosis of ovary	disease	BEFREE
C0158646	Cleft palate with cleft lip	disease	BEFREE;HPO
C0175754	Agenesis of corpus callosum	disease	HPO
C0178468	Autoimmune thyroid disease	disease	BEFREE
C0178874	Tumor Progression	phenotype	BEFREE
C0205642	Adenocarcinoma, Oxyphilic	disease	BEFREE
C0205645	Adenocarcinoma, Tubular	disease	BEFREE
C0205647	Follicular adenoma	disease	BEFREE
C0205696	Anaplastic carcinoma	disease	BEFREE
C0205698	Undifferentiated carcinoma	phenotype	BEFREE
C0205833	Medullomyoblastoma	disease	CTD_human
C0206624	Hepatoblastoma	disease	BEFREE
C0206656	Embryonal Rhabdomyosarcoma	disease	BEFREE
C0206659	Embryonal Carcinoma	disease	BEFREE
C0206663	Neuroectodermal Tumor, Primitive	disease	BEFREE;CTD_human;MGD
C0206682	Follicular thyroid carcinoma	disease	BEFREE
C0206693	Medullary carcinoma	disease	BEFREE
C0206708	Cervical Intraepithelial Neoplasia	disease	BEFREE
C0206710	Basal Cell Neoplasm	disease	MGD
C0220810	Congenital defects	group	BEFREE
C0221354	Frontal bossing	disease	HPO
C0221357	Brachydactyly	disease	BEFREE;HPO
C0232466	Feeding difficulties	phenotype	HPO
C0235290	Taste bitter	phenotype	BEFREE
C0235974	Pancreatic carcinoma	disease	BEFREE
C0236642	Pick Disease of the Brain	disease	BEFREE
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0238461	Anaplastic thyroid carcinoma	disease	BEFREE
C0238462	Medullary carcinoma of thyroid	disease	BEFREE
C0238463	Papillary thyroid carcinoma	disease	BEFREE
C0239174	Late tooth eruption	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0240063	Coloboma of iris	phenotype	HPO
C0241240	Tall stature	phenotype	HPO
C0242343	Panhypopituitarism	disease	HPO
C0260037	Multiple tumors	phenotype	BEFREE
C0265205	Robinow Syndrome	disease	BEFREE
C0265220	Pallister-Hall syndrome	disease	BEFREE
C0265535	Trigonocephaly	disease	HPO
C0265677	Congenital hemivertebra	disease	HPO
C0265695	Congenital fusion of ribs	disease	HPO
C0266623	Congenital anomaly of neck	group	HPO
C0270685	Cerebral calcification	phenotype	HPO
C0276680	Infection by Candida albicans	disease	BEFREE
C0278510	Childhood Medulloblastoma	disease	BEFREE;CTD_human
C0278876	Adult Medulloblastoma	disease	CTD_human
C0279680	Transitional cell carcinoma of bladder	disease	BEFREE
C0280216	stage, neuroblastoma	disease	BEFREE
C0302501	Mandibular hyperplasia	phenotype	HPO
C0302592	Cervix carcinoma	disease	BEFREE
C0311361	Adenomatous goiter	disease	BEFREE
C0334463	Malignant Fibrous Histiocytoma	disease	BEFREE
C0334482	Fetal rhabdomyoma	disease	BEFREE
C0334557	Odontogenic tumor, benign	disease	BEFREE
C0334574	Calcifying Epithelial Odontogenic Tumor	disease	BEFREE
C0334584	Spongioblastoma	disease	CTD_human
C0334596	Medulloepithelioma	disease	CTD_human
C0341038	Jaw Keratocyst	disease	BEFREE
C0342190	C-cell hyperplasia of thyroid	disease	BEFREE
C0342208	Multinodular goiter	disease	BEFREE
C0344559	Irido-corneo-trabecular dysgenesis (disorder)	disease	CLINVAR
C0345397	Accessory rib	disease	HPO
C0345893	Juvenile polyposis syndrome	disease	BEFREE
C0345967	Malignant mesothelioma	disease	BEFREE
C0345996	Milium Cyst	phenotype	HPO
C0346647	Malignant neoplasm of pancreas	disease	BEFREE;CTD_human
C0349658	Trichoepithelioma	disease	BEFREE
C0376358	Malignant neoplasm of prostate	disease	BEFREE
C0376634	Craniofacial Abnormalities	group	CTD_human
C0392514	Hereditary hemochromatosis	disease	BEFREE
C0399526	Class III malocclusion	disease	HPO
C0423109	Upward slant of palpebral fissure	phenotype	HPO
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423776	Palmar pit	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0424295	Hyperactive behavior	phenotype	BEFREE;HPO
C0424605	Developmental delay (disorder)	disease	BEFREE
C0424711	Orbital separation diminished	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0426817	Short ribs	phenotype	HPO
C0431362	Lobar Holoprosencephaly	disease	BEFREE;ORPHANET
C0431363	Alobar Holoprosencephaly	disease	HPO;ORPHANET
C0432122	Interfrontal craniofaciosynostosis	disease	HPO
C0432291	Mandibuloacral dysostosis	disease	BEFREE
C0455829	Waist Circumference	phenotype	GWASCAT
C0474808	Follicular neoplasm	disease	BEFREE
C0476073	Papillary neoplasm	disease	BEFREE
C0496899	Benign neoplasm of brain, unspecified	disease	CTD_human
C0497550	Benign neurologic neoplasms	group	BEFREE
C0521158	Recurrent tumor	phenotype	BEFREE
C0521525	Short neck	phenotype	HPO
C0545053	Advanced bone age	phenotype	HPO
C0546476	Multiple self-healing squamous epithelioma	disease	BEFREE
C0549473	Thyroid carcinoma	disease	BEFREE
C0553723	Squamous cell carcinoma of skin	disease	BEFREE
C0554972	Large auricle	phenotype	HPO
C0557874	Global developmental delay	disease	BEFREE;HPO
C0562350	Hip circumference	phenotype	GWASCAT
C0575158	Kyphoscoliosis deformity of spine	phenotype	HPO
C0575167	Deformity of neck	phenotype	HPO
C0578022	Finding of body mass index	phenotype	GWASCAT
C0596263	Carcinogenesis	phenotype	BEFREE
C0600113	Stromal tumor of ovary	disease	BEFREE
C0600139	Prostate carcinoma	disease	BEFREE
C0677607	Hashimoto Disease	disease	BEFREE
C0677886	Epithelial ovarian cancer	disease	HPO
C0678222	Breast Carcinoma	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0699885	Carcinoma of bladder	disease	BEFREE
C0699893	Skin carcinoma	disease	BEFREE
C0700095	Central neuroblastoma	disease	BEFREE
C0700208	Acquired scoliosis	phenotype	HPO
C0700367	Ependymoblastoma	disease	CTD_human
C0750952	Biliary Tract Cancer	disease	BEFREE
C0750974	Brain Tumor, Primary	disease	CTD_human
C0750977	Recurrent Brain Neoplasm	disease	CTD_human
C0750979	Primary malignant neoplasm of brain	disease	CTD_human
C0751291	Desmoplastic Medulloblastoma	disease	BEFREE;CTD_human
C0751617	Semilobar Holoprosencephaly	disease	HPO;ORPHANET
C0751675	Cerebral Primitive Neuroectodermal Tumor	disease	CTD_human
C0751676	Basal Cell Cancer	disease	BEFREE
C0812437	Oculo-dento-digital syndrome	disease	BEFREE;CLINGEN;ORPHANET
C0855073	Undifferentiated (Embryonal) Sarcoma	disease	BEFREE
C0862889	Superficial basal cell carcinoma	disease	BEFREE
C0917813	Spina Bifida, Open	disease	BEFREE
C0917816	Mental deficiency	disease	HPO
C0919267	ovarian neoplasm	disease	BEFREE
C0920350	Autoimmune thyroiditis	disease	BEFREE
C0948192	Primary infection NOS	phenotype	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1096654	Cardiac fibroma	disease	BEFREE;HPO
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1176475	Ductal Carcinoma	disease	BEFREE
C1258085	Barrett Epithelium	disease	BEFREE
C1266025	Traditional Serrated Adenoma	disease	BEFREE
C1275668	Melanotic medulloblastoma	disease	CTD_human
C1305855	Body mass index	phenotype	GWASCAT
C1332852	Cardiac rhabdomyoma	disease	HPO
C1333190	Cystic Neoplasm	disease	BEFREE
C1334410	Localized Primitive Neuroectodermal Tumor	disease	MGD
C1334963	Nevoid Basal Cell Carcinoma Syndrome Associated Medulloblastoma	disease	BEFREE
C1335302	Pancreatic Ductal Adenocarcinoma	disease	BEFREE
C1337013	Differentiated Thyroid Gland Carcinoma	disease	BEFREE
C1368275	Pigmented Basal Cell Carcinoma	disease	CTD_human
C1368295	Malignant basal cell tumor	disease	MGD
C1368910	Mature Teratoma	disease	BEFREE
C1397139	Calcification of falx cerebri	disease	HPO
C1398522	Cleft palate and bilateral cleft lip	disease	HPO
C1456781	Benign melanocytic nevus	disease	BEFREE
C1458155	Mammary Neoplasms	group	BEFREE;LHGDN
C1510497	Lens Opacities	phenotype	HPO
C1511789	Desmoplastic	disease	BEFREE
C1519383	Smoking Behaviors	phenotype	GWASCAT
C1527249	Colorectal Cancer	disease	BEFREE
C1527390	Neoplasms, Intracranial	group	CTD_human
C1621958	Glioblastoma Multiforme	disease	BEFREE
C1695776	Vertebral wedging	phenotype	HPO
C1707446	Columnar Cell Hyperplasia of the Breast	disease	BEFREE
C1708604	Keratocystic Odontogenic Tumor	disease	BEFREE;HPO
C1709457	Papillary Thyroid Microcarcinoma	disease	BEFREE
C1800706	Idiopathic Pulmonary Fibrosis	disease	BEFREE
C1834930	Fusion of the left and right thalami	phenotype	HPO
C1835763	Vertebral body fusion	phenotype	HPO
C1835820	HOLOPROSENCEPHALY 7	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C1837218	Cleft palate, isolated	disease	CTD_human
C1837402	Flat occiput	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840235	SOLITARY MEDIAN MAXILLARY CENTRAL INCISOR	disease	HPO
C1840309	Short 4th metacarpal	phenotype	HPO
C1842083	Abnormality of the ribs	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1843496	Bilateral microphthalmos	disease	HPO
C1845112	Hyperkyphosis	phenotype	HPO
C1845847	Coarse facial features	phenotype	HPO
C1848395	Large for gestational age	phenotype	HPO
C1849073	Fused vertebrae	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1850189	Large pinnae	phenotype	HPO
C1852301	Plantar pits	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1854245	Basal cell carcinoma, multiple	disease	UNIPROT
C1854301	Motor delay	phenotype	HPO
C1856872	Down-sloping shoulders	phenotype	HPO
C1857126	Parietal bossing	phenotype	HPO
C1857276	Trichohepatoenteric Syndrome	disease	BEFREE
C1859680	Broad face	phenotype	HPO
C1860493	Abnormality of the sternum	phenotype	HPO
C1860819	Metopic synostosis	disease	HPO
C1861305	TARSAL-CARPAL COALITION SYNDROME	disease	BEFREE
C1862151	BRACHYDACTYLY, TYPE A1 (disorder)	disease	BEFREE
C1862304	Hamartomatous polyp of stomach	disease	HPO
C1862313	Short distal phalanx of the thumb	phenotype	HPO
C1862314	Basal cell nevus	disease	BEFREE;HPO
C1864897	Cognitive delay	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1866959	Sella Turcica, Bridged	phenotype	HPO
C1869117	Paroxysmal nonkinesigenic dyskinesia	disease	BEFREE
C2051831	Pectus excavatum	phenotype	HPO
C2145472	Urothelial Carcinoma	disease	BEFREE
C2227134	mandibular excess (physical finding)	phenotype	HPO
C2239176	Liver carcinoma	disease	BEFREE
C2673410	Small midface	phenotype	HPO
C2732618	Sessile Serrated Adenoma/Polyp	disease	BEFREE
C2750604	Median cleft lip and palate	disease	HPO
C2751544	BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1	disease	UNIPROT
C2751545	Basal Cell Carcinoma, Nonsyndromic	disease	UNIPROT
C2939419	Secondary Neoplasm	group	BEFREE
C2981150	Uranostaphyloschisis	disease	HPO
C2986658	Diffuse Intrinsic Pontine Glioma	disease	BEFREE
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3278509	Spinal fusion	phenotype	HPO
C3278923	Dilated ventricles (finding)	phenotype	HPO
C3472623	Serrated adenocarcinoma	disease	BEFREE
C3553764	Joint hyperflexibility	phenotype	HPO
C3711390	9q22.3 Microdeletion	disease	ORPHANET
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3811653	Experimental Organism Basal Cell Carcinoma	phenotype	BEFREE
C3838465	BASAL CELL CARCINOMA, SOMATIC	disease	CLINVAR
C3875007	Nodular thyroid disease	disease	BEFREE
C4020769	Fusion of thamali	phenotype	HPO
C4020770	Hypoplasia of the premaxilla	phenotype	HPO
C4020874	No development of motor milestones	phenotype	HPO
C4020875	Mental and motor retardation	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4021638	Absent nasal septal cartilage	phenotype	HPO
C4021813	Oral cleft	disease	HPO
C4023759	Flat nasal alae	phenotype	HPO
C4024168	Thickened ears	phenotype	HPO
C4025374	Irregular ossification of hand bones	phenotype	HPO
C4025411	Midline defect of the nose	phenotype	HPO
C4048328	cervical cancer	disease	BEFREE
C4072825	Thickened facial skin with coarse facial features	phenotype	HPO
C4072878	Premaxillary retrusion	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4280269	Noncancerous mole	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280421	Abnormally small eyeball on both sides	phenotype	HPO
C4280422	Bilateral nanophthalmos	disease	HPO
C4280482	Flat back of the head	phenotype	HPO
C4280501	Failure of development of nasal septal cartilage	phenotype	HPO
C4280539	Central cleft of nose	phenotype	HPO
C4280625	Decreased size of eyeball	phenotype	HPO
C4280628	Malformation of the neck	phenotype	HPO
C4280644	Increased size of the mandible	phenotype	HPO
C4280645	Hypertrophy of lower jaw	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO
C4280665	Wedge shaped head	disease	HPO
C4280666	Triangular head shape	disease	HPO
C4280808	Abnormally small eyeball	phenotype	HPO
C4505456	HIV Coinfection	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005113	patched binding	IEA
GO:0005119	smoothened binding	IPI
GO:0005119	smoothened binding	IBA
GO:0005515	protein binding	IPI
GO:0008158	hedgehog receptor activity	IBA
GO:0008201	heparin binding	IEA
GO:0015485	cholesterol binding	IDA
GO:0030332	cyclin binding	IPI
GO:0044877	protein-containing complex binding	IEA
GO:0097108	hedgehog family protein binding	IBA
GO:0097108	hedgehog family protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000122	negative regulation of transcription by RNA polymerase II	IMP
GO:0001658	branching involved in ureteric bud morphogenesis	IEA
GO:0001701	in utero embryonic development	IEA
GO:0001709	cell fate determination	IEA
GO:0001843	neural tube closure	IEA
GO:0003007	heart morphogenesis	IEA
GO:0007224	smoothened signaling pathway	ISS
GO:0007224	smoothened signaling pathway	IEP
GO:0007224	smoothened signaling pathway	IBA
GO:0007346	regulation of mitotic cell cycle	IEA
GO:0007420	brain development	ISS
GO:0008589	regulation of smoothened signaling pathway	ISS
GO:0009612	response to mechanical stimulus	IEA
GO:0009887	animal organ morphogenesis	ISS
GO:0009953	dorsal/ventral pattern formation	ISS
GO:0009957	epidermal cell fate specification	IEA
GO:0010157	response to chlorate	IEA
GO:0010875	positive regulation of cholesterol efflux	IDA
GO:0016485	protein processing	ISS
GO:0021522	spinal cord motor neuron differentiation	IEA
GO:0021532	neural tube patterning	IMP
GO:0021997	neural plate axis specification	ISS
GO:0030326	embryonic limb morphogenesis	ISS
GO:0030850	prostate gland development	IEA
GO:0032355	response to estradiol	IEA
GO:0032526	response to retinoic acid	IEA
GO:0032880	regulation of protein localization	IEA
GO:0035108	limb morphogenesis	IMP
GO:0035137	hindlimb morphogenesis	IEA
GO:0040015	negative regulation of multicellular organism growth	ISS
GO:0042493	response to drug	IEA
GO:0042593	glucose homeostasis	IEA
GO:0043433	negative regulation of DNA-binding transcription factor activity	IMP
GO:0043616	keratinocyte proliferation	IEA
GO:0045606	positive regulation of epidermal cell differentiation	IEA
GO:0045668	negative regulation of osteoblast differentiation	IMP
GO:0045879	negative regulation of smoothened signaling pathway	ISS
GO:0045879	negative regulation of smoothened signaling pathway	TAS
GO:0045893	positive regulation of transcription, DNA-templated	IEA
GO:0048568	embryonic organ development	IEA
GO:0048745	smooth muscle tissue development	IEP
GO:0050680	negative regulation of epithelial cell proliferation	IEA
GO:0051782	negative regulation of cell division	IEA
GO:0060037	pharyngeal system development	IMP
GO:0060603	mammary gland duct morphogenesis	IEA
GO:0060644	mammary gland epithelial cell differentiation	IEA
GO:0060831	smoothened signaling pathway involved in dorsal/ventral neural tube patterning	IEA
GO:0061005	cell differentiation involved in kidney development	IEA
GO:0061053	somite development	IMP
GO:0071397	cellular response to cholesterol	ISS
GO:0071397	cellular response to cholesterol	IMP
GO:0071679	commissural neuron axon guidance	IEA
GO:0072203	cell proliferation involved in metanephros development	IEA
GO:0072205	metanephric collecting duct development	IEP
GO:0072659	protein localization to plasma membrane	IDA
GO:0097421	liver regeneration	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IEA
GO:0005886	plasma membrane	IDA
GO:0005886	plasma membrane	IBA
GO:0005901	caveola	IDA
GO:0014069	postsynaptic density	IEA
GO:0016021	integral component of membrane	IEA
GO:0030496	midbody	IEA
GO:0030666	endocytic vesicle membrane	TAS
GO:0043231	intracellular membrane-bounded organelle	IDA
GO:0044294	dendritic growth cone	IEA
GO:0044295	axonal growth cone	IEA
GO:0048471	perinuclear region of cytoplasm	IDA
GO:0060170	ciliary membrane	TAS
GO:0005794	Golgi apparatus	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-162582	Signal Transduction	IEA
R-HSA-372790	Signaling by GPCR	IEA
R-HSA-373080	Class B/2 (Secretin family receptors)	IEA
R-HSA-500792	GPCR ligand binding	IEA
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5358351	Signaling by Hedgehog	IEA
R-HSA-5610787	Hedgehog 'off' state	TAS
R-HSA-5632681	Ligand-receptor interactions	TAS
R-HSA-5632681	Ligand-receptor interactions	IEA
R-HSA-5632684	Hedgehog 'on' state	TAS
R-HSA-5632684	Hedgehog 'on' state	IEA
R-HSA-5635838	Activation of SMO	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C088969	1,4-diaminocyclohexane	1,4-diaminocyclohexane analog results in increased expression of PTCH1 mRNA	24973920
C088969	1,4-diaminocyclohexane	BRD4 mutant form inhibits the reaction [1,4-diaminocyclohexane analog results in increased expression of PTCH1 mRNA]	24973920
C088969	1,4-diaminocyclohexane	(+)-JQ1 compound inhibits the reaction [1,4-diaminocyclohexane analog results in increased expression of PTCH1 mRNA]	24973920
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 bis(4-hydroxyphenyl)sulfone] results in increased expression of PTCH1 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 A] results in increased expression of PTCH1 mRNA	28628672
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of PTCH1 mRNA	19114083
C533410	2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one	2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one results in decreased expression of PTCH1 mRNA	19946333
C533410	2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one	TP53 protein affects the reaction [2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one results in decreased expression of PTCH1 mRNA]	19946333
C486184	4,4',4''-(4-propyl-((1)H)-pyrazole-1,3,5-triyl) tris-phenol	4,4',4''-(4-propyl-((1)H)-pyrazole-1,3,5-triyl) tris-phenol results in decreased expression of PTCH1 mRNA	17109907
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of PTCH1 mRNA	18648102
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in increased expression of PTCH1 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 entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PTCH1 mRNA	19150397
C496492	abrine	abrine results in decreased expression of PTCH1 mRNA	31054353
D020106	Acrylamide	Acrylamide results in decreased expression of PTCH1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of PTCH1 mRNA	19770486
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of PTCH1 mRNA	16483693
D000661	Amphetamine	Amphetamine results in decreased expression of PTCH1 mRNA	30779732
D000728	Androgens	Androgens deficiency results in increased expression of PTCH1 mRNA	26710974
D000728	Androgens	[mono-(2-ethylhexyl)phthalate co-treated with Androgens deficiency] results in increased expression of PTCH1 mRNA	26710974
D001151	Arsenic	Arsenic affects the methylation of PTCH1 gene	25304211
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of PTCH1 mRNA	23861973; 24685274;
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of PTCH1 mRNA	21183792
C015001	arsenite	arsenite results in increased methylation of PTCH1 promoter	23974009
D001379	Azathioprine	Azathioprine affects the mutagenesis of PTCH1 gene	18854826
C547126	AZM551248	AZM551248 results in decreased expression of PTCH1 mRNA	22323515
D001507	Beclomethasone	Beclomethasone results in increased expression of PTCH1 mRNA	23656298
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of PTCH1 intron	30157460
D001565	Benzoates	Benzoates analog results in increased expression of PTCH1 mRNA	29472718
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of PTCH1 mRNA	28628672
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of PTCH1 mRNA	30951980
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 PTCH1 mRNA	28628672
C006780	bisphenol A	bisphenol A results in increased expression of PTCH1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in decreased expression of PTCH1 mRNA	25181051; 30816183;
C000611646	bisphenol F	bisphenol F results in increased expression of PTCH1 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of PTCH1 mRNA	26079696
C028031	cadmium acetate	cadmium acetate results in decreased expression of PTCH1 mRNA	23124188
C028031	cadmium acetate	cadmium acetate results in decreased expression of PTCH1 protein	23124188
D019256	Cadmium Chloride	Cadmium Chloride results in decreased methylation of PTCH1 promoter	22457795
D002185	Cannabidiol	Cannabidiol affects the methylation of PTCH1 gene	30521419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of PTCH1 mRNA	27590029
D002251	Carbon Tetrachloride	Colforsin inhibits the reaction [Carbon Tetrachloride results in increased expression of PTCH1 mRNA]	27590029
D020111	Chlorodiphenyl (54% Chlorine)	Chlorodiphenyl (54% Chlorine) results in increased expression of PTCH1 protein	30578594
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PTCH1 gene	20938992
D002945	Cisplatin	Cisplatin results in decreased expression of PTCH1 mRNA	27392435
D005576	Colforsin	Colforsin inhibits the reaction [Carbon Tetrachloride results in increased expression of PTCH1 mRNA]	27590029
D003300	Copper	Copper results in increased expression of PTCH1 mRNA	30556269
C038459	curdlan	curdlan results in decreased expression of PTCH1 mRNA	23543010
C000541	cyclopamine	cyclopamine results in decreased expression of PTCH1 mRNA	26710974
C000541	cyclopamine	mono-(2-ethylhexyl)phthalate inhibits the reaction [cyclopamine results in decreased expression of PTCH1 mRNA]	26710974
C000541	cyclopamine	cyclopamine inhibits the reaction [[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of PTCH1 protein]	27481074
C000541	cyclopamine	cyclopamine inhibits the reaction [SHH protein inhibits the reaction [Lipopolysaccharides results in decreased expression of PTCH1 mRNA]]	21110116
C000541	cyclopamine	cyclopamine inhibits the reaction [SHH protein results in increased expression of PTCH1 mRNA]	21110116
C000541	cyclopamine	cyclopamine inhibits the reaction [SHH protein results in increased expression of PTCH1 protein]	21110116
C010902	decabromobiphenyl ether	decabromobiphenyl ether results in increased expression of PTCH1 mRNA	24317228
D000077209	Decitabine	[[Decitabine affects the methylation of HHIP promoter] which affects the expression of HHIP protein] which affects the expression of PTCH1 mRNA	18559595
D000077209	Decitabine	Decitabine inhibits the reaction [Smoke results in decreased expression of PTCH1 mRNA]	21095227
D000077209	Decitabine	[Decitabine co-treated with Valproic Acid] results in increased expression of PTCH1 mRNA	19155313
D000077209	Decitabine	Decitabine results in decreased methylation of PTCH1 promoter	19155313
D000077209	Decitabine	Decitabine results in increased expression of PTCH1 mRNA	27915011
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of PTCH1 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 A] results in increased expression of PTCH1 mRNA	28628672
D003976	Diazinon	Diazinon results in increased methylation of PTCH1 gene	22964155
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PTCH1 mRNA	17361019; 21266533;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PTCH1 mRNA	19464577; 31568847;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in decreased expression of PTCH1 protein	31568847
D003633	Dichlorodiphenyl Dichloroethylene	Dichlorodiphenyl Dichloroethylene results in increased expression of PTCH1 mRNA	25386960
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in decreased expression of PTCH1 mRNA	28123099
C089799	diheptyl phthalate	diheptyl phthalate results in decreased expression of PTCH1 mRNA	22112501
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
C118739	entinostat	entinostat results in decreased expression of PTCH1 mRNA	26272509
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
D004958	Estradiol	[Estradiol co-treated with IGF1 protein] results in increased expression of PTCH1 mRNA	22811575
D004958	Estradiol	Estradiol affects the expression of PTCH1 mRNA	23557687
D004958	Estradiol	[Estradiol co-treated with Progesterone] results in increased expression of PTCH1 mRNA	22958837
D004958	Estradiol	Estradiol results in decreased expression of PTCH1 mRNA	25210133
D004958	Estradiol	Estradiol results in decreased expression of PTCH1 mRNA	15328011
D000431	Ethanol	[Ethanol co-treated with Folic Acid] results in increased expression of PTCH1 mRNA	23378141
D000431	Ethanol	Ethanol results in increased expression of PTCH1 mRNA	23378141
D000431	Ethanol	Ethanol results in increased expression of PTCH1 mRNA	30319688
D000431	Ethanol	PTCH1 gene affects the reaction [CDON gene mutant form results in increased susceptibility to Ethanol]	24244464
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of PTCH1 mRNA	17555576
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of PTCH1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of PTCH1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of PTCH1 mRNA	17109907
D004997	Ethinyl Estradiol	Fulvestrant inhibits the reaction [Ethinyl Estradiol results in decreased expression of PTCH1 mRNA]	17109907
D017313	Fenretinide	Fenretinide results in decreased expression of PTCH1 mRNA	28973697
D005419	Flavonoids	Flavonoids results in decreased expression of PTCH1 mRNA	18035473
D005472	Fluorouracil	Fluorouracil affects the localization of PTCH1 protein	18776995
D005472	Fluorouracil	[Fluorouracil co-treated with Irinotecan] results in increased expression of PTCH1 mRNA	16391804
D005472	Fluorouracil	Fluorouracil results in decreased expression of PTCH1 mRNA	18776995
D005472	Fluorouracil	Fluorouracil results in decreased expression of PTCH1 protein	18776995; 25190613;
D005472	Fluorouracil	GLI1 protein inhibits the reaction [Fluorouracil affects the localization of PTCH1 protein]	18776995
D005492	Folic Acid	[Ethanol co-treated with Folic Acid] results in increased expression of PTCH1 mRNA	23378141
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PTCH1 gene	20938992
D005557	Formaldehyde	Formaldehyde results in decreased expression of PTCH1 mRNA	20655997
D000077267	Fulvestrant	Fulvestrant inhibits the reaction [Ethinyl Estradiol results in decreased expression of PTCH1 mRNA]	17109907
C056507	gemcitabine	gemcitabine affects the expression of PTCH1 mRNA	20103597
D005947	Glucose	cyclopamine inhibits the reaction [[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of PTCH1 protein]	27481074
D005947	Glucose	[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of PTCH1 protein	27481074
D005947	Glucose	SHH protein affects the reaction [[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of PTCH1 protein]	27481074
D005947	Glucose	[INS protein co-treated with Glucose] results in increased expression of PTCH1 mRNA	22634610
C058504	goralatide	goralatide inhibits the reaction [AGT protein results in decreased expression of PTCH1 protein]	31181250
C058504	goralatide	goralatide inhibits the reaction [Silicon Dioxide results in decreased expression of PTCH1 protein]	31181250
C538724	HhAntag691	HhAntag691 results in decreased expression of PTCH1 mRNA	22087285
C538724	HhAntag691	GLI2 gene mutant form promotes the reaction [HhAntag691 inhibits the reaction [SHH protein results in increased expression of PTCH1 mRNA]]	27585885
C538724	HhAntag691	HhAntag691 inhibits the reaction [SHH protein results in increased expression of PTCH1 mRNA]	27585885
C538724	HhAntag691	HhAntag691 results in decreased expression of PTCH1 mRNA	24973920
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of PTCH1 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 A] results in increased expression of PTCH1 mRNA	28628672
D000077146	Irinotecan	[Fluorouracil co-treated with Irinotecan] results in increased expression of PTCH1 mRNA	16391804
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of PTCH1 mRNA	26752646
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of PTCH1 mRNA	24973920
C561695	(+)-JQ1 compound	(+)-JQ1 compound inhibits the reaction [1,4-diaminocyclohexane analog results in increased expression of PTCH1 mRNA]	24973920
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of PTCH1 mRNA	24972896
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of PTCH1 mRNA	12057914
D008070	Lipopolysaccharides	PTCH1 protein results in decreased susceptibility to Lipopolysaccharides	21131441
D008070	Lipopolysaccharides	cyclopamine inhibits the reaction [SHH protein inhibits the reaction [Lipopolysaccharides results in decreased expression of PTCH1 mRNA]]	21110116
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of PTCH1 mRNA	21110116
D008070	Lipopolysaccharides	Lipopolysaccharides results in decreased expression of PTCH1 protein	21110116
D008070	Lipopolysaccharides	SHH protein inhibits the reaction [Lipopolysaccharides results in decreased expression of PTCH1 mRNA]	21110116
D008070	Lipopolysaccharides	SHH protein inhibits the reaction [Lipopolysaccharides results in decreased expression of PTCH1 protein]	21110116
D008555	Melitten	Melitten results in increased expression of PTCH1 protein	26189965
D008627	Mercuric Chloride	Mercuric Chloride affects the expression of PTCH1 mRNA	20353558
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of PTCH1 gene	20938992
D008727	Methotrexate	Methotrexate results in decreased expression of PTCH1 mRNA	23836430
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of PTCH1 mRNA	26011545
C016599	mono-(2-ethylhexyl)phthalate	[mono-(2-ethylhexyl)phthalate co-treated with Androgens deficiency] results in increased expression of PTCH1 mRNA	26710974
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate inhibits the reaction [cyclopamine results in decreased expression of PTCH1 mRNA]	26710974
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in increased expression of PTCH1 mRNA	26710974
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of PTCH1 mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of PTCH1 mRNA	21624382; 25554681;
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of PTCH1 mRNA	25554681
D010100	Oxygen	cyclopamine inhibits the reaction [[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of PTCH1 protein]	27481074
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of PTCH1 mRNA	30529165
D010100	Oxygen	[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of PTCH1 protein	27481074
D010100	Oxygen	SHH protein affects the reaction [[Oxygen deficiency co-treated with Glucose deficiency] results in increased expression of PTCH1 protein]	27481074
D010416	Pentachlorophenol	Pentachlorophenol results in increased expression of PTCH1 mRNA	29458080
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of PTCH1 mRNA	26272509
D010672	Phenytoin	Phenytoin results in increased expression of PTCH1 mRNA	16141649
C006253	pirinixic acid	pirinixic acid results in decreased expression of PTCH1 mRNA	18445702; 20813756;
D010936	Plant Extracts	Plant Extracts affects the expression of PTCH1 mRNA	12878215
C060540	polyhexamethyleneguanidine	polyhexamethyleneguanidine affects the expression of PTCH1 mRNA	29337256
D059808	Polyphenols	Polyphenols results in decreased expression of PTCH1 mRNA	16293270
C027373	potassium chromate(VI)	potassium chromate(VI) results in increased expression of PTCH1 mRNA	22714537
D011374	Progesterone	[Estradiol co-treated with Progesterone] results in increased expression of PTCH1 mRNA	22958837
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of PTCH1 mRNA	24780913
D011794	Quercetin	Quercetin results in decreased expression of PTCH1 mRNA	21632981
D000077185	Resveratrol	Resveratrol results in decreased expression of PTCH1	22301921
D000077185	Resveratrol	Resveratrol results in decreased expression of PTCH1 protein	25190613
D000077185	Resveratrol	Resveratrol results in increased expression of PTCH1 mRNA	20878097
D012822	Silicon Dioxide	Silicon Dioxide analog results in decreased expression of PTCH1 mRNA	25895662
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of PTCH1 mRNA	19073995
D012822	Silicon Dioxide	AGT protein modified form inhibits the reaction [Silicon Dioxide results in decreased expression of PTCH1 protein]	31181250
D012822	Silicon Dioxide	goralatide inhibits the reaction [Silicon Dioxide results in decreased expression of PTCH1 protein]	31181250
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of PTCH1 protein	31181250
D012906	Smoke	Decitabine inhibits the reaction [Smoke results in decreased expression of PTCH1 mRNA]	21095227
C017947	sodium arsenite	sodium arsenite results in increased expression of PTCH1 mRNA	20179202
D000077210	Sunitinib	Sunitinib results in increased expression of PTCH1 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in increased expression of PTCH1 mRNA	31299295
D013629	Tamoxifen	Tamoxifen affects the expression of PTCH1 mRNA	17555576
D013739	Testosterone	Testosterone results in increased expression of PTCH1 mRNA	19693291
C020806	tetrabromobisphenol A	tetrabromobisphenol A results in decreased expression of PTCH1 mRNA	25172293
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of PTCH1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of PTCH1 mRNA	17337447; 18796159; 26290441;
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of PTCH1 mRNA	22298810
C009495	titanium dioxide	titanium dioxide results in increased expression of PTCH1 mRNA	29128614; 29264374;
D014212	Tretinoin	Tretinoin results in decreased expression of PTCH1 mRNA	9224671
D014212	Tretinoin	[Tretinoin co-treated with SHH protein co-treated with FGF8 protein] results in increased expression of PTCH1 mRNA	17085092
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of PTCH1 mRNA	22723015; 24935251; 26272509;
C084079	triptonide	triptonide results in increased expression of PTCH1 protein	30610878
D000077288	Troglitazone	Troglitazone results in decreased expression of PTCH1 mRNA	28973697
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of PTCH1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of PTCH1 mRNA	23179753; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of PTCH1 mRNA	19101580
D014635	Valproic Acid	[Decitabine co-treated with Valproic Acid] results in increased expression of PTCH1 mRNA	19155313
D014635	Valproic Acid	Valproic Acid results in increased expression of PTCH1 mRNA	24896083
D000077337	Vorinostat	[NOG protein co-treated with Vorinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of PTCH1 mRNA	27188386
D000077337	Vorinostat	Vorinostat results in decreased expression of PTCH1 mRNA	19421011; 26272509;

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-1003	Cell membrane
KW-0225	Disease mutation
KW-0325	Glycoprotein
KW-0370	Holoprosencephaly
KW-1017	Isopeptide bond
KW-0472	Membrane
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0812	Transmembrane
KW-1133	Transmembrane helix
KW-0043	Tumor suppressor
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR003392	Ptc/Disp
IPR000731	SSD
IPR004766	TM_rcpt_patched

PROSITE

PROSITE ID	PROSITE Term
PS50156	SSD

Pfam

Pfam ID	Pfam Term
PF02460	Patched

Gene: PTCH1

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

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction