CleftGeneDB-Search

Gene: MN1

Basic information

Tag	Content
Uniprot ID	Q10571; A9Z1V9;
Entrez ID	4330
Genbank protein ID	CAA57693.2; EAW59741.1; CAA94179.1;
Genbank nucleotide ID	NM_002430.2
Ensembl protein ID	ENSP00000304956
Ensembl nucleotide ID	ENSG00000169184
Gene name	Transcriptional activator MN1
Gene symbol	MN1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Transcriptional activator which specifically regulates expression of TBX22 in the posterior region of the developing palate. Required during later stages of palate development for growth and medial fusion of the palatal shelves. Promotes maturation and normal function of calvarial osteoblasts, including expression of the osteoclastogenic cytokine TNFSF11/RANKL. Necessary for normal development of the membranous bones of the skull (By similarity). May play a role in tumor suppression (Probable).
Sequence	MFGLDQFEPQ VNSRNAGQGE RNFNETGLSM NTHFKAPAFH TGGPPGPVDP AMSALGEPPI 60 LGMNMEPYGF HARGHSELHA GGLQAQPVHG FFGGQQPHHG HPGSHHPHQH HPHFGGNFGG 120 PDPGASCLHG GRLLGYGGAA GGLGSQPPFA EGYEHMAESQ GPESFGPQRP GNLPDFHSSG 180 ASSHAVPAPC LPLDQSPNRA ASFHGLPSSS GSDSHSLEPR RVTNQGAVDS LEYNYPGEAP 240 SGHFDMFSPS DSEGQLPHYA AGRQVPGGAF PGASAMPRAA GMVGLSKMHA QPPQQQPQQQ 300 QQPQQQQQQH GVFFERFSGA RKMPVGLEPS VGSRHPLMQP PQQAPPPPQQ QPPQQPPQQQ 360 PPPPPGLLVR QNSCPPALPR PQQGEAGTPS GGLQDGGPML PSQHAQFEYP IHRLENRSMH 420 PYSEPVFSMQ HPPPQQAPNQ RLQHFDAPPY MNVAKRPRFD FPGSAGVDRC ASWNGSMHNG 480 ALDNHLSPSA YPGLPGEFTP PVPDSFPSGP PLQHPAPDHQ SLQQQQQQQQ QQQQQQQQQQ 540 QQQQQQQQQQ RQNAALMIKQ MASRNQQQRL RQPNLAQLGH PGDVGQGGLV HGGPVGGLAQ 600 PNFEREGGST GAGRLGTFEQ QAPHLAQESA WFSGPHPPPG DLLPRRMGGS GLPADCGPHD 660 PSLAPPPPPG GSGVLFRGPL QEPMRMPGEG HVPALPSPGL QFGGSLGGLG QLQSPGAGVG 720 LPSAASERRP PPPDFATSAL GGQPGFPFGA AGRQSTPHSG PGVNSPPSAG GGGGSSGGGG 780 GGGAYPPQPD FQPSQRTSAS KLGALSLGSF NKPSSKDNLF GQSCLAALST ACQNMIASLG 840 APNLNVTFNK KNPPEGKRKL SQNETDGAAV AGNPGSDYFP GGTAPGAPGP GGPSGTSSSG 900 SKASGPPNPP AQGDGTSLSP NYTLESTSGN DGKPVSGGGG RGRGRRKRDS GHVSPGTFFD 960 KYSAAPDSGG APGVSPGQQQ ASGAAVGGSS AGETRGAPTP HEKALTSPSW GKGAELLLGD 1020 QPDLIGSLDG GAKSDSSSPN VGEFASDEVS TSYANEDEVS SSSDNPQALV KASRSPLVTG 1080 SPKLPPRGVG AGEHGPKAPP PALGLGIMSN STSTPDSYGG GGGPGHPGTP GLEQVRTPTS 1140 SSGAPPPDEI HPLEILQAQI QLQRQQFSIS EDQPLGLKGG KKGECAVGAS GAQNGDSELG 1200 SCCSEAVKSA MSTIDLDSLM AEHSAAWYMP ADKALVDSAD DDKTLAPWEK AKPQNPNSKE 1260 AHDLPANKAS ASQPGSHLQC LSVHCTDDVG DAKARASVPT WRSLHSDISN RFGTFVAALT 1320

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 in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	MN1	102187517	A0A452FGG2			Capra hircus	Prediction	More>>
1:1 ortholog	MN1	4330	Q10571			Homo sapiens	Prediction	More>>
1:1 ortholog	Mn1	433938	D3YWE6	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	MN1	458730	A0A2I3SC32			Pan troglodytes	Prediction	More>>
1:1 ortholog	Mn1	498194	D4AAP6			Rattus norvegicus	Prediction	More>>
1:1 ortholog	mn1b	572077	B8JKI7			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1162136841	p.Gly3Arg	missense variant	-	NC_000022.11:g.27800537C>T	gnomAD
rs750826390	p.Gly3Ala	missense variant	-	NC_000022.11:g.27800536C>G	ExAC,gnomAD
rs1424231790	p.Asp5Gly	missense variant	-	NC_000022.11:g.27800530T>C	gnomAD
rs369603656	p.Gln6His	missense variant	-	NC_000022.11:g.27800526T>A	ESP,ExAC,TOPMed,gnomAD
rs1195840796	p.Gln6Lys	missense variant	-	NC_000022.11:g.27800528G>T	TOPMed,gnomAD
rs768901866	p.Glu8Gly	missense variant	-	NC_000022.11:g.27800521T>C	ExAC,gnomAD
rs1210529897	p.Glu8Asp	missense variant	-	NC_000022.11:g.27800520C>A	gnomAD
rs763125504	p.Pro9Thr	missense variant	-	NC_000022.11:g.27800519G>T	ExAC,gnomAD
rs776436401	p.Gln10His	missense variant	-	NC_000022.11:g.27800514C>G	ExAC,gnomAD
rs770576840	p.Val11Ile	missense variant	-	NC_000022.11:g.27800513C>T	ExAC,TOPMed,gnomAD
rs376328026	p.Val11Gly	missense variant	-	NC_000022.11:g.27800512A>C	ESP,ExAC,TOPMed,gnomAD
rs772034637	p.Asn12Asp	missense variant	-	NC_000022.11:g.27800510T>C	ExAC,gnomAD
COSM1415396	p.Ser13Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27800506C>T	NCI-TCGA Cosmic
rs747710930	p.Ala16Ser	missense variant	-	NC_000022.11:g.27800498C>A	ExAC,TOPMed,gnomAD
rs1192122452	p.Gln18Arg	missense variant	-	NC_000022.11:g.27800491T>C	TOPMed
rs200030766	p.Gly19Asp	missense variant	-	NC_000022.11:g.27800488C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1296149750	p.Asn22Asp	missense variant	-	NC_000022.11:g.27800480T>C	gnomAD
rs780470201	p.Phe23Cys	missense variant	-	NC_000022.11:g.27800476A>C	ExAC,gnomAD
rs1172569340	p.Asn24Ile	missense variant	-	NC_000022.11:g.27800473T>A	gnomAD
rs771785043	p.Thr26Asn	missense variant	-	NC_000022.11:g.27800467G>T	ExAC,gnomAD
rs750784642	p.Gly27Ala	missense variant	-	NC_000022.11:g.27800464C>G	ExAC,gnomAD
rs1435032107	p.Ser29Asn	missense variant	-	NC_000022.11:g.27800458C>T	gnomAD
rs1400142022	p.Met30Thr	missense variant	-	NC_000022.11:g.27800455A>G	TOPMed
rs1009404304	p.Asn31Asp	missense variant	-	NC_000022.11:g.27800453T>C	TOPMed
rs762346186	p.Thr32Pro	missense variant	-	NC_000022.11:g.27800450T>G	ExAC,TOPMed,gnomAD
rs762346186	p.Thr32Ser	missense variant	-	NC_000022.11:g.27800450T>A	ExAC,TOPMed,gnomAD
rs1439053841	p.Thr32Ile	missense variant	-	NC_000022.11:g.27800449G>A	TOPMed
rs563766025	p.Lys35Glu	missense variant	-	NC_000022.11:g.27800441T>C	1000Genomes,ExAC,gnomAD
rs763178625	p.Ala36Gly	missense variant	-	NC_000022.11:g.27800437G>C	ExAC,gnomAD
rs764114510	p.Ala36Thr	missense variant	-	NC_000022.11:g.27800438C>T	ExAC,gnomAD
rs1276011005	p.Phe39Leu	missense variant	-	NC_000022.11:g.27800429A>G	gnomAD
NCI-TCGA novel	p.Phe39Leu	missense variant	-	NC_000022.11:g.27800427G>C	NCI-TCGA
NCI-TCGA novel	p.Phe39GlyPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.27800418_27800430CCCAGTGTGGAAA>-	NCI-TCGA
rs1336058498	p.His40Arg	missense variant	-	NC_000022.11:g.27800425T>C	TOPMed
rs1291752583	p.Thr41Ser	missense variant	-	NC_000022.11:g.27800422G>C	TOPMed,gnomAD
rs1304236061	p.Gly43Val	missense variant	-	NC_000022.11:g.27800416C>A	gnomAD
rs773038750	p.Pro44Leu	missense variant	-	NC_000022.11:g.27800413G>A	ExAC,gnomAD
rs760446763	p.Pro44Ser	missense variant	-	NC_000022.11:g.27800414G>A	ExAC,TOPMed,gnomAD
rs760446763	p.Pro44Ala	missense variant	-	NC_000022.11:g.27800414G>C	ExAC,TOPMed,gnomAD
rs773038750	p.Pro44Arg	missense variant	-	NC_000022.11:g.27800413G>C	ExAC,gnomAD
rs1468072234	p.Pro45Ser	missense variant	-	NC_000022.11:g.27800411G>A	gnomAD
rs748049013	p.Pro45Arg	missense variant	-	NC_000022.11:g.27800410G>C	ExAC,gnomAD
rs748049013	p.Pro45Leu	missense variant	-	NC_000022.11:g.27800410G>A	ExAC,gnomAD
COSM4702776	p.Pro45LeuPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27800410G>-	NCI-TCGA Cosmic
COSM184141	p.Pro45LeuPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27800415C>-	NCI-TCGA Cosmic
rs778578591	p.Gly46Arg	missense variant	-	NC_000022.11:g.27800408C>G	ExAC,TOPMed,gnomAD
rs1362070900	p.Gly46Asp	missense variant	-	NC_000022.11:g.27800407C>T	gnomAD
NCI-TCGA novel	p.Gly46Ala	missense variant	-	NC_000022.11:g.27800407C>G	NCI-TCGA
rs951572274	p.Pro47Ser	missense variant	-	NC_000022.11:g.27800405G>A	-
NCI-TCGA novel	p.Asp49Val	missense variant	-	NC_000022.11:g.27800398T>A	NCI-TCGA
COSM1033032	p.Asp49Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27800399C>T	NCI-TCGA Cosmic
rs748800962	p.Ala51Val	missense variant	-	NC_000022.11:g.27800392G>A	ExAC,gnomAD
rs1202631953	p.Met52Thr	missense variant	-	NC_000022.11:g.27800389A>G	TOPMed,gnomAD
rs755765653	p.Met52Val	missense variant	-	NC_000022.11:g.27800390T>C	ExAC,TOPMed,gnomAD
rs1349174278	p.Ser53Arg	missense variant	-	NC_000022.11:g.27800385G>T	gnomAD
rs1258377633	p.Ala54Glu	missense variant	-	NC_000022.11:g.27800383G>T	gnomAD
rs781575749	p.Ile60Val	missense variant	-	NC_000022.11:g.27800366T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu61Val	missense variant	-	NC_000022.11:g.27800363A>C	NCI-TCGA
NCI-TCGA novel	p.Gly62Arg	missense variant	-	NC_000022.11:g.27800360C>G	NCI-TCGA
COSM1033031	p.Gly62Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27800360C>T	NCI-TCGA Cosmic
rs1231633868	p.Met63Ile	missense variant	-	NC_000022.11:g.27800355C>T	TOPMed
rs199615090	p.Met65Leu	missense variant	-	NC_000022.11:g.27800351T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met65Ile	missense variant	-	NC_000022.11:g.27800349C>T	NCI-TCGA
rs752009579	p.Glu66Gln	missense variant	-	NC_000022.11:g.27800348C>G	ExAC,gnomAD
rs752009579	p.Glu66Lys	missense variant	-	NC_000022.11:g.27800348C>T	ExAC,gnomAD
rs1229729997	p.Pro67Ser	missense variant	-	NC_000022.11:g.27800345G>A	TOPMed,gnomAD
rs575079706	p.Tyr68Cys	missense variant	-	NC_000022.11:g.27800341T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr68ThrPheSerTerUnkUnkUnk	frameshift	-	NC_000022.11:g.27800342A>-	NCI-TCGA
rs758543225	p.Gly69Val	missense variant	-	NC_000022.11:g.27800338C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly69Ser	missense variant	-	NC_000022.11:g.27800339C>T	NCI-TCGA
rs1278603134	p.Phe70Val	missense variant	-	NC_000022.11:g.27800336A>C	gnomAD
COSM6162041	p.Phe70Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27800334G>T	NCI-TCGA Cosmic
rs1158085027	p.Ala72Glu	missense variant	-	NC_000022.11:g.27800329G>T	gnomAD
NCI-TCGA novel	p.Ala72Val	missense variant	-	NC_000022.11:g.27800329G>A	NCI-TCGA
rs946108416	p.Arg73Cys	missense variant	-	NC_000022.11:g.27800327G>A	TOPMed,gnomAD
rs946108416	p.Arg73Ser	missense variant	-	NC_000022.11:g.27800327G>T	TOPMed,gnomAD
COSM4103230	p.Arg73His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27800326C>T	NCI-TCGA Cosmic
rs772911698	p.Ser76Leu	missense variant	-	NC_000022.11:g.27800317G>A	ExAC,gnomAD
rs767284915	p.Leu78Ser	missense variant	-	NC_000022.11:g.27800311A>G	ExAC,TOPMed,gnomAD
rs761846672	p.His79Gln	missense variant	-	NC_000022.11:g.27800307G>C	ExAC,TOPMed,gnomAD
rs1263148999	p.Ala80Ser	missense variant	-	NC_000022.11:g.27800306C>A	gnomAD
rs768699089	p.Gly81Arg	missense variant	-	NC_000022.11:g.27800303C>G	ExAC,gnomAD
rs768699089	p.Gly81Arg	missense variant	-	NC_000022.11:g.27800303C>T	ExAC,gnomAD
rs201422000	p.Gly81Ala	missense variant	-	NC_000022.11:g.27800302C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775031996	p.Gly82Arg	missense variant	-	NC_000022.11:g.27800300C>T	ExAC,gnomAD
COSM2935775	p.Leu83CysPheSerTerUnkUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27800298C>-	NCI-TCGA Cosmic
rs781427301	p.Gln86His	missense variant	-	NC_000022.11:g.27800286C>G	ExAC,gnomAD
rs745479652	p.Gln86Pro	missense variant	-	NC_000022.11:g.27800287T>G	ExAC,gnomAD
rs757553552	p.Pro87Leu	missense variant	-	NC_000022.11:g.27800284G>A	ExAC,gnomAD
rs1362464693	p.Val88Met	missense variant	-	NC_000022.11:g.27800282C>T	gnomAD
rs747372601	p.Gly90Ser	missense variant	-	NC_000022.11:g.27800276C>T	ExAC,gnomAD
rs1404932402	p.Gly90Ala	missense variant	-	NC_000022.11:g.27800275C>G	gnomAD
rs1270367274	p.Phe91Cys	missense variant	-	NC_000022.11:g.27800272A>C	TOPMed
rs1414835067	p.Phe91Leu	missense variant	-	NC_000022.11:g.27800273A>G	gnomAD
rs778311495	p.Gly94Cys	missense variant	-	NC_000022.11:g.27800264C>A	ExAC,TOPMed,gnomAD
rs778311495	p.Gly94Ser	missense variant	-	NC_000022.11:g.27800264C>T	ExAC,TOPMed,gnomAD
rs200805240	p.Gln95Arg	missense variant	-	NC_000022.11:g.27800260T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1271397057	p.Pro97Leu	missense variant	-	NC_000022.11:g.27800254G>A	TOPMed
rs752761105	p.Pro97Ser	missense variant	-	NC_000022.11:g.27800255G>A	ExAC,gnomAD
rs765320661	p.His98Tyr	missense variant	-	NC_000022.11:g.27800252G>A	ExAC,TOPMed,gnomAD
rs1264640955	p.His99Tyr	missense variant	-	NC_000022.11:g.27800249G>A	gnomAD
rs755169047	p.His99Arg	missense variant	-	NC_000022.11:g.27800248T>C	ExAC,TOPMed,gnomAD
rs754024849	p.Pro102Leu	missense variant	-	NC_000022.11:g.27800239G>A	ExAC,TOPMed,gnomAD
rs754024849	p.Pro102Gln	missense variant	-	NC_000022.11:g.27800239G>T	ExAC,TOPMed,gnomAD
rs773965619	p.Gly103Val	missense variant	-	NC_000022.11:g.27800236C>A	gnomAD
rs558501460	p.Gly103Ter	stop gained	-	NC_000022.11:g.27800237C>A	1000Genomes,ExAC,gnomAD
rs773965619	p.Gly103Glu	missense variant	-	NC_000022.11:g.27800236C>T	gnomAD
rs558501460	p.Gly103Arg	missense variant	-	NC_000022.11:g.27800237C>T	1000Genomes,ExAC,gnomAD
rs1478469816	p.Ser104Asn	missense variant	-	NC_000022.11:g.27800233C>T	gnomAD
rs1248290474	p.His105Arg	missense variant	-	NC_000022.11:g.27800230T>C	TOPMed,gnomAD
rs774262801	p.His105Tyr	missense variant	-	NC_000022.11:g.27800231G>A	ExAC,gnomAD
rs979466925	p.His108Gln	missense variant	-	NC_000022.11:g.27800220G>C	TOPMed
rs1281406721	p.His108Leu	missense variant	-	NC_000022.11:g.27800221T>A	gnomAD
rs1435894938	p.Gln109Ter	stop gained	-	NC_000022.11:g.27800219G>A	gnomAD
NCI-TCGA novel	p.Gln109His	missense variant	-	NC_000022.11:g.27800217C>A	NCI-TCGA
rs762940355	p.His110Arg	missense variant	-	NC_000022.11:g.27800215T>C	ExAC,gnomAD
rs1165928169	p.His110Tyr	missense variant	-	NC_000022.11:g.27800216G>A	TOPMed
rs1325840496	p.His111Gln	missense variant	-	NC_000022.11:g.27800211G>T	gnomAD
rs1408571472	p.Pro112Leu	missense variant	-	NC_000022.11:g.27800209G>A	gnomAD
rs769294628	p.His113Tyr	missense variant	-	NC_000022.11:g.27800207G>A	ExAC,TOPMed,gnomAD
rs769294628	p.His113Asn	missense variant	-	NC_000022.11:g.27800207G>T	ExAC,TOPMed,gnomAD
rs770559977	p.Phe114Leu	missense variant	-	NC_000022.11:g.27800202A>C	ExAC,TOPMed,gnomAD
rs776415356	p.Phe114Ser	missense variant	-	NC_000022.11:g.27800203A>G	ExAC,TOPMed,gnomAD
rs983204078	p.Asn117Ser	missense variant	-	NC_000022.11:g.27800194T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asn117GlnPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.27800196_27800197insC	NCI-TCGA
rs1477438863	p.Gly119Ser	missense variant	-	NC_000022.11:g.27800189C>T	gnomAD
rs1223225726	p.Gly120Val	missense variant	-	NC_000022.11:g.27800185C>A	gnomAD
rs1223225726	p.Gly120Asp	missense variant	-	NC_000022.11:g.27800185C>T	gnomAD
rs747425753	p.Gly120Cys	missense variant	-	NC_000022.11:g.27800186C>A	ExAC,gnomAD
rs570112158	p.Pro123Leu	missense variant	-	NC_000022.11:g.27800176G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro123Ser	missense variant	-	NC_000022.11:g.27800177G>A	NCI-TCGA
rs748640233	p.Gly124Arg	missense variant	-	NC_000022.11:g.27800174C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser126Ter	stop gained	-	NC_000022.11:g.27800167G>T	NCI-TCGA
rs1368485143	p.Leu128Arg	missense variant	-	NC_000022.11:g.27800161A>C	gnomAD
rs1327809917	p.His129Leu	missense variant	-	NC_000022.11:g.27800158T>A	TOPMed
rs1276698686	p.His129Gln	missense variant	-	NC_000022.11:g.27800157G>T	gnomAD
rs778861876	p.Gly130Ala	missense variant	-	NC_000022.11:g.27800155C>G	ExAC,gnomAD
rs960588703	p.Gly130Arg	missense variant	-	NC_000022.11:g.27800156C>G	TOPMed,gnomAD
rs960588703	p.Gly130Arg	missense variant	-	NC_000022.11:g.27800156C>T	TOPMed,gnomAD
rs753846776	p.Gly131Val	missense variant	-	NC_000022.11:g.27800152C>A	ExAC,TOPMed,gnomAD
rs755151921	p.Gly131Cys	missense variant	-	NC_000022.11:g.27800153C>A	ExAC,TOPMed,gnomAD
rs994464931	p.Arg132His	missense variant	-	NC_000022.11:g.27800149C>T	TOPMed,gnomAD
rs1027359002	p.Arg132Ser	missense variant	-	NC_000022.11:g.27800150G>T	TOPMed
rs1027359002	p.Arg132Cys	missense variant	-	NC_000022.11:g.27800150G>A	TOPMed
rs1425186878	p.Leu133Val	missense variant	-	NC_000022.11:g.27800147G>C	gnomAD
rs756370849	p.Gly137Arg	missense variant	-	NC_000022.11:g.27800135C>G	ExAC,TOPMed,gnomAD
rs756370849	p.Gly137Ser	missense variant	-	NC_000022.11:g.27800135C>T	ExAC,TOPMed,gnomAD
rs1458967999	p.Gly138Asp	missense variant	-	NC_000022.11:g.27800131C>T	gnomAD
rs1178995046	p.Gly138Ser	missense variant	-	NC_000022.11:g.27800132C>T	gnomAD
rs1209258911	p.Ala140Val	missense variant	-	NC_000022.11:g.27800125G>A	gnomAD
rs1312718024	p.Gly141Arg	missense variant	-	NC_000022.11:g.27800123C>T	TOPMed,gnomAD
rs1312718024	p.Gly141Arg	missense variant	-	NC_000022.11:g.27800123C>G	TOPMed,gnomAD
rs751428267	p.Gly142Val	missense variant	-	NC_000022.11:g.27800119C>A	ExAC,TOPMed,gnomAD
rs1280770810	p.Gly142Ser	missense variant	-	NC_000022.11:g.27800120C>T	gnomAD
rs1353220816	p.Gly144Asp	missense variant	-	NC_000022.11:g.27800113C>T	gnomAD
rs763929036	p.Pro147Leu	missense variant	-	NC_000022.11:g.27800104G>A	ExAC,gnomAD
rs1449452450	p.Pro147Thr	missense variant	-	NC_000022.11:g.27800105G>T	gnomAD
rs762815374	p.Pro148Ser	missense variant	-	NC_000022.11:g.27800102G>A	ExAC,gnomAD
rs1015860322	p.Phe149Leu	missense variant	-	NC_000022.11:g.27800097G>C	TOPMed,gnomAD
rs1361437225	p.Ala150Ser	missense variant	-	NC_000022.11:g.27800096C>A	gnomAD
rs1417371995	p.Glu151Lys	missense variant	-	NC_000022.11:g.27800093C>T	gnomAD
rs535628380	p.Gly152Val	missense variant	-	NC_000022.11:g.27800089C>A	1000Genomes,ExAC,gnomAD
rs1386404274	p.Tyr153Cys	missense variant	-	NC_000022.11:g.27800086T>C	TOPMed
rs1158942852	p.Glu154Gly	missense variant	-	NC_000022.11:g.27800083T>C	gnomAD
rs776099087	p.His155Tyr	missense variant	-	NC_000022.11:g.27800081G>A	ExAC,TOPMed,gnomAD
rs1343574175	p.His155Gln	missense variant	-	NC_000022.11:g.27800079G>C	gnomAD
rs760281612	p.Met156Arg	missense variant	-	NC_000022.11:g.27800077A>C	ExAC,gnomAD
rs760281612	p.Met156Thr	missense variant	-	NC_000022.11:g.27800077A>G	ExAC,gnomAD
rs773589784	p.Ala157Val	missense variant	-	NC_000022.11:g.27800074G>A	ExAC,TOPMed,gnomAD
rs773589784	p.Ala157Glu	missense variant	-	NC_000022.11:g.27800074G>T	ExAC,TOPMed,gnomAD
rs1181093500	p.Ala157Thr	missense variant	-	NC_000022.11:g.27800075C>T	gnomAD
rs772354812	p.Glu158Lys	missense variant	-	NC_000022.11:g.27800072C>T	ExAC,gnomAD
rs1214513931	p.Ser159Asn	missense variant	-	NC_000022.11:g.27800068C>T	gnomAD
rs1287008202	p.Gly161Arg	missense variant	-	NC_000022.11:g.27800063C>T	gnomAD
rs1320164866	p.Pro162Thr	missense variant	-	NC_000022.11:g.27800060G>T	gnomAD
rs1229290447	p.Glu163Asp	missense variant	-	NC_000022.11:g.27800055C>G	gnomAD
rs891364169	p.Glu163Lys	missense variant	-	NC_000022.11:g.27800057C>T	TOPMed,gnomAD
rs779530474	p.Ser164Thr	missense variant	-	NC_000022.11:g.27800053C>G	ExAC,gnomAD
rs368391246	p.Gly166Cys	missense variant	-	NC_000022.11:g.27800048C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368391246	p.Gly166Arg	missense variant	-	NC_000022.11:g.27800048C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs546917584	p.Pro170Gln	missense variant	-	NC_000022.11:g.27800035G>T	1000Genomes,ExAC,gnomAD
rs546917584	p.Pro170Leu	missense variant	-	NC_000022.11:g.27800035G>A	1000Genomes,ExAC,gnomAD
rs1366390317	p.Pro174Leu	missense variant	-	NC_000022.11:g.27800023G>A	TOPMed,gnomAD
rs1421091700	p.Pro174Ala	missense variant	-	NC_000022.11:g.27800024G>C	gnomAD
rs1261830542	p.Asp175Gly	missense variant	-	NC_000022.11:g.27800020T>C	TOPMed
rs1352858038	p.Phe176Tyr	missense variant	-	NC_000022.11:g.27800017A>T	TOPMed
rs750612058	p.Ser178Arg	missense variant	-	NC_000022.11:g.27800010A>C	ExAC,gnomAD
rs1191504197	p.Gly180Cys	missense variant	-	NC_000022.11:g.27800006C>A	gnomAD
rs777718995	p.Ala181Ser	missense variant	-	NC_000022.11:g.27800003C>A	ExAC,TOPMed,gnomAD
rs1218927368	p.Ala181Val	missense variant	-	NC_000022.11:g.27800002G>A	gnomAD
rs777718995	p.Ala181Pro	missense variant	-	NC_000022.11:g.27800003C>G	ExAC,TOPMed,gnomAD
rs1469107313	p.Ser182Pro	missense variant	-	NC_000022.11:g.27800000A>G	TOPMed
rs753379883	p.Val186Leu	missense variant	-	NC_000022.11:g.27799988C>A	ExAC,gnomAD
rs1388104292	p.Pro192Arg	missense variant	-	NC_000022.11:g.27799969G>C	gnomAD
rs771610867	p.Pro192Ser	missense variant	-	NC_000022.11:g.27799970G>A	ExAC,TOPMed,gnomAD
rs1388104292	p.Pro192Leu	missense variant	-	NC_000022.11:g.27799969G>A	gnomAD
rs1157824429	p.Leu193Pro	missense variant	-	NC_000022.11:g.27799966A>G	TOPMed
rs1292645652	p.Asp194Asn	missense variant	-	NC_000022.11:g.27799964C>T	gnomAD
rs1458218521	p.Asp194Ala	missense variant	-	NC_000022.11:g.27799963T>G	gnomAD
rs1396322569	p.Gln195Ter	stop gained	-	NC_000022.11:g.27799961G>A	gnomAD
rs762284892	p.Ser196Thr	missense variant	-	NC_000022.11:g.27799957C>G	ExAC,TOPMed,gnomAD
rs1442721772	p.Pro197Thr	missense variant	-	NC_000022.11:g.27799955G>T	TOPMed
rs1424294730	p.Arg199Gln	missense variant	-	NC_000022.11:g.27799948C>T	gnomAD
rs774546408	p.Ala201Ser	missense variant	-	NC_000022.11:g.27799943C>A	ExAC,gnomAD
rs749706989	p.Phe203Ser	missense variant	-	NC_000022.11:g.27799936A>G	ExAC,gnomAD
rs775720744	p.Phe203Leu	missense variant	-	NC_000022.11:g.27799935G>T	ExAC,TOPMed,gnomAD
rs1463472414	p.His204Arg	missense variant	-	NC_000022.11:g.27799933T>C	gnomAD
NCI-TCGA novel	p.His204Asn	missense variant	-	NC_000022.11:g.27799934G>T	NCI-TCGA
rs1489595143	p.Gly205Ser	missense variant	-	NC_000022.11:g.27799931C>T	gnomAD
rs1198450862	p.Pro207Leu	missense variant	-	NC_000022.11:g.27799924G>A	TOPMed,gnomAD
rs1198450862	p.Pro207Arg	missense variant	-	NC_000022.11:g.27799924G>C	TOPMed,gnomAD
rs769924728	p.Ser210Thr	missense variant	-	NC_000022.11:g.27799915C>G	ExAC,TOPMed,gnomAD
rs1299999031	p.Ser212Pro	missense variant	-	NC_000022.11:g.27799910A>G	gnomAD
rs1329006349	p.Ser216Gly	missense variant	-	NC_000022.11:g.27799898T>C	gnomAD
rs1400921086	p.Glu218Asp	missense variant	-	NC_000022.11:g.27799890C>A	gnomAD
rs1464486620	p.Arg220Gln	missense variant	-	NC_000022.11:g.27799885C>T	gnomAD
rs1377081671	p.Arg221Thr	missense variant	-	NC_000022.11:g.27799882C>G	gnomAD
rs1199706307	p.Thr223Lys	missense variant	-	NC_000022.11:g.27799876G>T	gnomAD
rs757402494	p.Gln225Glu	missense variant	-	NC_000022.11:g.27799871G>C	ExAC,TOPMed,gnomAD
rs757402494	p.Gln225Lys	missense variant	-	NC_000022.11:g.27799871G>T	ExAC,TOPMed,gnomAD
rs1178387281	p.Gly226Arg	missense variant	-	NC_000022.11:g.27799868C>T	gnomAD
rs748016757	p.Ala227Asp	missense variant	-	NC_000022.11:g.27799864G>T	ExAC,TOPMed,gnomAD
rs778534551	p.Val228Leu	missense variant	-	NC_000022.11:g.27799862C>G	ExAC,TOPMed,gnomAD
rs778534551	p.Val228Ile	missense variant	-	NC_000022.11:g.27799862C>T	ExAC,TOPMed,gnomAD
rs1344942993	p.Asp229Asn	missense variant	-	NC_000022.11:g.27799859C>T	gnomAD
rs754965822	p.Asn234Ser	missense variant	-	NC_000022.11:g.27799843T>C	ExAC,TOPMed,gnomAD
rs1377278005	p.Glu238Lys	missense variant	-	NC_000022.11:g.27799832C>T	gnomAD
rs1394165384	p.Ala239Val	missense variant	-	NC_000022.11:g.27799828G>A	gnomAD
rs761329146	p.Gly242Glu	missense variant	-	NC_000022.11:g.27799819C>T	ExAC,TOPMed,gnomAD
rs761329146	p.Gly242Val	missense variant	-	NC_000022.11:g.27799819C>A	ExAC,TOPMed,gnomAD
rs749910148	p.Gly242Arg	missense variant	-	NC_000022.11:g.27799820C>T	ExAC,gnomAD
rs1158344981	p.His243Arg	missense variant	-	NC_000022.11:g.27799816T>C	gnomAD
rs774798974	p.Asp245Glu	missense variant	-	NC_000022.11:g.27799809G>C	ExAC,TOPMed,gnomAD
rs1365854327	p.Met246Val	missense variant	-	NC_000022.11:g.27799808T>C	gnomAD
rs1185899359	p.Phe247Leu	missense variant	-	NC_000022.11:g.27799805A>G	gnomAD
rs764304064	p.Ser248Pro	missense variant	-	NC_000022.11:g.27799802A>G	ExAC,TOPMed,gnomAD
COSM1484128	p.Ser250Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799795G>C	NCI-TCGA Cosmic
rs1200516016	p.Ser252Pro	missense variant	-	NC_000022.11:g.27799790A>G	gnomAD
rs1457685806	p.Ser252Tyr	missense variant	-	NC_000022.11:g.27799789G>T	TOPMed
COSM4846489	p.Ser252Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799789G>C	NCI-TCGA Cosmic
rs1299141272	p.Gly254Glu	missense variant	-	NC_000022.11:g.27799783C>T	TOPMed
rs1283267948	p.Leu256Val	missense variant	-	NC_000022.11:g.27799778G>C	gnomAD
rs1238898626	p.Pro257Ser	missense variant	-	NC_000022.11:g.27799775G>A	gnomAD
RCV000786031	p.His258Ter	frameshift	Chordoma (CHDM)	NC_000022.11:g.27799768_27799772del	ClinVar
rs143732344	p.Ala260Val	missense variant	-	NC_000022.11:g.27799765G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1334820333	p.Ala261Thr	missense variant	-	NC_000022.11:g.27799763C>T	gnomAD
rs1358634118	p.Gly262Asp	missense variant	-	NC_000022.11:g.27799759C>T	gnomAD
RCV000786030	p.Gly262Ter	frameshift	Chordoma (CHDM)	NC_000022.11:g.27799761del	ClinVar
rs866357132	p.Arg263Leu	missense variant	-	NC_000022.11:g.27799756C>A	gnomAD
rs866357132	p.Arg263His	missense variant	-	NC_000022.11:g.27799756C>T	gnomAD
rs754663447	p.Arg263Cys	missense variant	-	NC_000022.11:g.27799757G>A	ExAC,gnomAD
rs749069601	p.Gln264His	missense variant	-	NC_000022.11:g.27799752C>A	ExAC,gnomAD
rs1231316049	p.Pro266His	missense variant	-	NC_000022.11:g.27799747G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro266Ser	missense variant	-	NC_000022.11:g.27799748G>A	NCI-TCGA
rs756012760	p.Pro271Ser	missense variant	-	NC_000022.11:g.27799733G>A	ExAC,TOPMed,gnomAD
rs756012760	p.Pro271Ala	missense variant	-	NC_000022.11:g.27799733G>C	ExAC,TOPMed,gnomAD
rs749965197	p.Gly272Ser	missense variant	-	NC_000022.11:g.27799730C>T	ExAC,TOPMed,gnomAD
rs1447187355	p.Gly272Asp	missense variant	-	NC_000022.11:g.27799729C>T	gnomAD
rs201186821	p.Ala273Ser	missense variant	-	NC_000022.11:g.27799727C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1015032812	p.Ser274Trp	missense variant	-	NC_000022.11:g.27799723G>C	TOPMed,gnomAD
rs1207830235	p.Ser274Pro	missense variant	-	NC_000022.11:g.27799724A>G	TOPMed,gnomAD
rs1015032812	p.Ser274Leu	missense variant	-	NC_000022.11:g.27799723G>A	TOPMed,gnomAD
rs1235003365	p.Met276Thr	missense variant	-	NC_000022.11:g.27799717A>G	gnomAD
rs1428801754	p.Met276Val	missense variant	-	NC_000022.11:g.27799718T>C	TOPMed
rs1235003365	p.Met276Lys	missense variant	-	NC_000022.11:g.27799717A>T	gnomAD
NCI-TCGA novel	p.Met276Ile	missense variant	-	NC_000022.11:g.27799716C>T	NCI-TCGA
rs1338367349	p.Arg278Lys	missense variant	-	NC_000022.11:g.27799711C>T	gnomAD
rs1277603568	p.Ala279Ser	missense variant	-	NC_000022.11:g.27799709C>A	gnomAD
rs1400740143	p.Ala280Pro	missense variant	-	NC_000022.11:g.27799706C>G	gnomAD
rs867278977	p.Ala280Val	missense variant	-	NC_000022.11:g.27799705G>A	gnomAD
rs756945063	p.Met282Val	missense variant	-	NC_000022.11:g.27799700T>C	ExAC,gnomAD
rs756945063	p.Met282Leu	missense variant	-	NC_000022.11:g.27799700T>G	ExAC,gnomAD
rs1391836335	p.Val283Ala	missense variant	-	NC_000022.11:g.27799696A>G	gnomAD
NCI-TCGA novel	p.Gly284Asp	missense variant	-	NC_000022.11:g.27799693C>T	NCI-TCGA
rs997024111	p.Ser286Thr	missense variant	-	NC_000022.11:g.27799688A>T	TOPMed,gnomAD
rs1423597588	p.Lys287Glu	missense variant	-	NC_000022.11:g.27799685T>C	gnomAD
rs1475489343	p.His289Pro	missense variant	-	NC_000022.11:g.27799678T>G	TOPMed,gnomAD
rs1475489343	p.His289Leu	missense variant	-	NC_000022.11:g.27799678T>A	TOPMed,gnomAD
rs1192275572	p.His289Tyr	missense variant	-	NC_000022.11:g.27799679G>A	gnomAD
rs563396290	p.Gln291His	missense variant	-	NC_000022.11:g.27799671C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1339739234	p.Gln295Pro	missense variant	-	NC_000022.11:g.27799660T>G	TOPMed
rs763473301	p.Gln296His	missense variant	-	NC_000022.11:g.27799656C>G	ExAC,TOPMed,gnomAD
rs763473301	p.Gln296His	missense variant	-	NC_000022.11:g.27799656C>A	ExAC,TOPMed,gnomAD
rs1426476119	p.Gln296Pro	missense variant	-	NC_000022.11:g.27799657T>G	gnomAD
rs775977953	p.Pro297Ser	missense variant	-	NC_000022.11:g.27799655G>A	ExAC,TOPMed,gnomAD
rs775977953	p.Pro297Thr	missense variant	-	NC_000022.11:g.27799655G>T	ExAC,TOPMed,gnomAD
rs1219318095	p.Gln298Arg	missense variant	-	NC_000022.11:g.27799651T>C	gnomAD
rs1187843456	p.Gln299Pro	missense variant	-	NC_000022.11:g.27799648T>G	TOPMed
rs1364080799	p.Gln299Ter	stop gained	-	NC_000022.11:g.27799649G>A	gnomAD
rs1416971909	p.Gln299His	missense variant	-	NC_000022.11:g.27799647C>G	TOPMed
rs765888331	p.Gln302Glu	missense variant	-	NC_000022.11:g.27799640G>C	ExAC,gnomAD
rs760082167	p.Pro303Thr	missense variant	-	NC_000022.11:g.27799637G>T	ExAC,TOPMed
rs760082167	p.Pro303Ser	missense variant	-	NC_000022.11:g.27799637G>A	ExAC,TOPMed
rs1396183447	p.Gln304Glu	missense variant	-	NC_000022.11:g.27799634G>C	TOPMed
rs1174037284	p.Gln307Arg	missense variant	-	NC_000022.11:g.27799624T>C	TOPMed
rs1290804900	p.His310Arg	missense variant	-	NC_000022.11:g.27799615T>C	TOPMed
rs1217475664	p.Gly311Asp	missense variant	-	NC_000022.11:g.27799612C>T	TOPMed
NCI-TCGA novel	p.Phe313Leu	missense variant	-	NC_000022.11:g.27799605G>T	NCI-TCGA
rs1172101325	p.Glu315Gly	missense variant	-	NC_000022.11:g.27799600T>C	gnomAD
NCI-TCGA novel	p.Glu315Asp	missense variant	-	NC_000022.11:g.27799599C>A	NCI-TCGA
rs1412136422	p.Arg316Lys	missense variant	-	NC_000022.11:g.27799597C>T	gnomAD
NCI-TCGA novel	p.Arg316ValPheSerTerUnkUnkUnk	frameshift	-	NC_000022.11:g.27799597_27799598CT>-	NCI-TCGA
rs1420961832	p.Gly319Glu	missense variant	-	NC_000022.11:g.27799588C>T	TOPMed,gnomAD
rs1254774105	p.Ala320Thr	missense variant	-	NC_000022.11:g.27799586C>T	gnomAD
rs776797040	p.Lys322Thr	missense variant	-	NC_000022.11:g.27799579T>G	ExAC,TOPMed,gnomAD
rs770858733	p.Met323Ile	missense variant	-	NC_000022.11:g.27799575C>G	ExAC,TOPMed,gnomAD
rs1253285822	p.Met323Thr	missense variant	-	NC_000022.11:g.27799576A>G	gnomAD
rs1209787824	p.Pro324Leu	missense variant	-	NC_000022.11:g.27799573G>A	gnomAD
COSM1415394	p.Pro324His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799573G>T	NCI-TCGA Cosmic
rs1456325331	p.Val325Met	missense variant	-	NC_000022.11:g.27799571C>T	gnomAD
rs542100085	p.Gly326Asp	missense variant	-	NC_000022.11:g.27799567C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1205058464	p.Pro329Ser	missense variant	-	NC_000022.11:g.27799559G>A	TOPMed,gnomAD
rs947904585	p.Pro329Leu	missense variant	-	NC_000022.11:g.27799558G>A	TOPMed,gnomAD
rs1483168206	p.Val331Gly	missense variant	-	NC_000022.11:g.27799552A>C	gnomAD
rs1479210738	p.Val331Leu	missense variant	-	NC_000022.11:g.27799553C>A	TOPMed
rs1276540804	p.Gly332Ser	missense variant	-	NC_000022.11:g.27799550C>T	gnomAD
rs1348842309	p.Pro336Gln	missense variant	-	NC_000022.11:g.27799537G>T	gnomAD
rs1445020945	p.Pro340Leu	missense variant	-	NC_000022.11:g.27799525G>A	gnomAD
rs1376540572	p.Pro341Ser	missense variant	-	NC_000022.11:g.27799523G>A	gnomAD
rs1275842597	p.Gln342His	missense variant	-	NC_000022.11:g.27799518C>A	gnomAD
rs1444937888	p.Gln343Glu	missense variant	-	NC_000022.11:g.27799517G>C	gnomAD
rs530327845	p.Ala344Val	missense variant	-	NC_000022.11:g.27799513G>A	1000Genomes,ExAC,gnomAD
rs1331590918	p.Pro345Arg	missense variant	-	NC_000022.11:g.27799510G>C	TOPMed,gnomAD
rs1425112325	p.Pro347Arg	missense variant	-	NC_000022.11:g.27799504G>C	TOPMed
rs749119867	p.Pro347Ser	missense variant	-	NC_000022.11:g.27799505G>A	ExAC,gnomAD
rs749119867	p.Pro347Thr	missense variant	-	NC_000022.11:g.27799505G>T	ExAC,gnomAD
rs986147784	p.Pro348Ser	missense variant	-	NC_000022.11:g.27799502G>A	TOPMed,gnomAD
rs986147784	p.Pro348Ala	missense variant	-	NC_000022.11:g.27799502G>C	TOPMed,gnomAD
COSM1415393	p.Pro348Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799502G>T	NCI-TCGA Cosmic
rs1386699729	p.Gln351His	missense variant	-	NC_000022.11:g.27799491C>A	TOPMed
rs961803567	p.Pro353Arg	missense variant	-	NC_000022.11:g.27799486G>C	TOPMed
rs961803567	p.Pro353Leu	missense variant	-	NC_000022.11:g.27799486G>A	TOPMed
rs955572144	p.Pro353Ser	missense variant	-	NC_000022.11:g.27799487G>A	gnomAD
rs1481556456	p.Gln355Arg	missense variant	-	NC_000022.11:g.27799480T>C	gnomAD
rs868192034	p.Gln358Pro	missense variant	-	NC_000022.11:g.27799471T>G	TOPMed
rs1235713038	p.Gln358Lys	missense variant	-	NC_000022.11:g.27799472G>T	gnomAD
rs1265754402	p.Gln360Pro	missense variant	-	NC_000022.11:g.27799465T>G	TOPMed
rs780754305	p.Pro361Gln	missense variant	-	NC_000022.11:g.27799462G>T	ExAC,TOPMed
rs780754305	p.Pro361Leu	missense variant	-	NC_000022.11:g.27799462G>A	ExAC,TOPMed
rs745732833	p.Pro361Ser	missense variant	-	NC_000022.11:g.27799463G>A	ExAC,gnomAD
rs997075008	p.Pro365Ser	missense variant	-	NC_000022.11:g.27799451G>A	TOPMed
rs1353293636	p.Arg370Gln	missense variant	-	NC_000022.11:g.27799435C>T	gnomAD
rs1409939953	p.Asn372His	missense variant	-	NC_000022.11:g.27799430T>G	TOPMed
rs777344383	p.Pro375Leu	missense variant	-	NC_000022.11:g.27799420G>A	ExAC,gnomAD
rs1415938001	p.Pro376Leu	missense variant	-	NC_000022.11:g.27799417G>A	gnomAD
rs753146931	p.Pro376Ser	missense variant	-	NC_000022.11:g.27799418G>A	ExAC,gnomAD
rs1375456766	p.Ala377Thr	missense variant	-	NC_000022.11:g.27799415C>T	TOPMed,gnomAD
rs1375456766	p.Ala377Ser	missense variant	-	NC_000022.11:g.27799415C>A	TOPMed,gnomAD
rs1022503123	p.Pro379Ser	missense variant	-	NC_000022.11:g.27799409G>A	TOPMed,gnomAD
rs765649603	p.Pro379Leu	missense variant	-	NC_000022.11:g.27799408G>A	ExAC,TOPMed,gnomAD
rs1159531777	p.Arg380Pro	missense variant	-	NC_000022.11:g.27799405C>G	gnomAD
rs1359546111	p.Arg380Trp	missense variant	-	NC_000022.11:g.27799406G>A	gnomAD
rs1420714164	p.Pro381Thr	missense variant	-	NC_000022.11:g.27799403G>T	gnomAD
NCI-TCGA novel	p.Pro381His	missense variant	-	NC_000022.11:g.27799402G>T	NCI-TCGA
rs45589338	p.Gln382His	missense variant	-	NC_000022.11:g.27799398C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs45589338	p.Gln382His	missense variant	-	NC_000022.11:g.27799398C>A	UniProt,dbSNP
VAR_047533	p.Gln382His	missense variant	-	NC_000022.11:g.27799398C>A	UniProt
rs45589338	p.Gln382His	missense variant	-	NC_000022.11:g.27799398C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1475502869	p.Glu385Asp	missense variant	-	NC_000022.11:g.27799389C>G	gnomAD
rs1286384611	p.Glu385Gln	missense variant	-	NC_000022.11:g.27799391C>G	TOPMed
NCI-TCGA novel	p.Glu385AspPheSerTerUnkUnkUnk	frameshift	-	NC_000022.11:g.27799389_27799390insTACA	NCI-TCGA
NCI-TCGA novel	p.Ala386Gly	missense variant	-	NC_000022.11:g.27799387G>C	NCI-TCGA
rs1214589596	p.Gly387Asp	missense variant	-	NC_000022.11:g.27799384C>T	gnomAD
rs766906739	p.Thr388Lys	missense variant	-	NC_000022.11:g.27799381G>T	ExAC,TOPMed,gnomAD
rs754233954	p.Thr388Ala	missense variant	-	NC_000022.11:g.27799382T>C	ExAC,TOPMed,gnomAD
rs1407007969	p.Ser390Gly	missense variant	-	NC_000022.11:g.27799376T>C	gnomAD
rs1320219435	p.Ser390Arg	missense variant	-	NC_000022.11:g.27799374G>C	gnomAD
rs1312471411	p.Gly392Ser	missense variant	-	NC_000022.11:g.27799370C>T	gnomAD
rs760715677	p.Gln394Arg	missense variant	-	NC_000022.11:g.27799363T>C	ExAC,gnomAD
rs773309616	p.Asp395Glu	missense variant	-	NC_000022.11:g.27799359G>C	ExAC,TOPMed,gnomAD
rs1438898275	p.Gly396Arg	missense variant	-	NC_000022.11:g.27799358C>T	TOPMed
rs1397645177	p.Gly397Asp	missense variant	-	NC_000022.11:g.27799354C>T	gnomAD
rs895699778	p.Pro398Thr	missense variant	-	NC_000022.11:g.27799352G>T	TOPMed,gnomAD
rs1360819614	p.Met399Val	missense variant	-	NC_000022.11:g.27799349T>C	gnomAD
rs1455029857	p.Pro401Ser	missense variant	-	NC_000022.11:g.27799343G>A	gnomAD
rs369476397	p.Gln403His	missense variant	-	NC_000022.11:g.27799335C>G	ESP,ExAC,TOPMed,gnomAD
rs1419991882	p.His404Tyr	missense variant	-	NC_000022.11:g.27799334G>A	gnomAD
rs1191573479	p.Ala405Thr	missense variant	-	NC_000022.11:g.27799331C>T	TOPMed,gnomAD
rs1477571904	p.Ala405Glu	missense variant	-	NC_000022.11:g.27799330G>T	gnomAD
rs769506961	p.Gln406Glu	missense variant	-	NC_000022.11:g.27799328G>C	ExAC,TOPMed,gnomAD
rs745668238	p.Phe407Tyr	missense variant	-	NC_000022.11:g.27799324A>T	ExAC,TOPMed,gnomAD
rs1431411554	p.Glu408Gln	missense variant	-	NC_000022.11:g.27799322C>G	TOPMed
NCI-TCGA novel	p.Glu408Lys	missense variant	-	NC_000022.11:g.27799322C>T	NCI-TCGA
rs770881977	p.His412Tyr	missense variant	-	NC_000022.11:g.27799310G>A	ExAC,gnomAD
rs746543801	p.His412Arg	missense variant	-	NC_000022.11:g.27799309T>C	ExAC,gnomAD
rs1256775134	p.Arg413Trp	missense variant	-	NC_000022.11:g.27799307G>A	gnomAD
rs1175056378	p.Glu415Asp	missense variant	-	NC_000022.11:g.27799299C>A	gnomAD
rs758146952	p.Glu415Ter	stop gained	-	NC_000022.11:g.27799301C>A	ExAC,TOPMed,gnomAD
rs752339866	p.Glu415Val	missense variant	-	NC_000022.11:g.27799300T>A	ExAC,TOPMed,gnomAD
rs779427634	p.Asn416Ser	missense variant	-	NC_000022.11:g.27799297T>C	ExAC,gnomAD
rs755462103	p.Arg417Gly	missense variant	-	NC_000022.11:g.27799295G>C	ExAC,gnomAD
rs1324941255	p.Arg417Gln	missense variant	-	NC_000022.11:g.27799294C>T	TOPMed,gnomAD
rs754207040	p.Ser418Arg	missense variant	-	NC_000022.11:g.27799292T>G	ExAC,gnomAD
rs1396583416	p.Met419Arg	missense variant	-	NC_000022.11:g.27799288A>C	gnomAD
rs1396583416	p.Met419Lys	missense variant	-	NC_000022.11:g.27799288A>T	gnomAD
rs766833734	p.His420Asp	missense variant	-	NC_000022.11:g.27799286G>C	ExAC,TOPMed,gnomAD
rs766833734	p.His420Tyr	missense variant	-	NC_000022.11:g.27799286G>A	ExAC,TOPMed,gnomAD
rs1270418121	p.Pro421Leu	missense variant	-	NC_000022.11:g.27799282G>A	TOPMed
rs1251099459	p.Pro421Ser	missense variant	-	NC_000022.11:g.27799283G>A	TOPMed,gnomAD
rs1373664139	p.Ser423Phe	missense variant	-	NC_000022.11:g.27799276G>A	gnomAD
rs750490054	p.Glu424Lys	missense variant	-	NC_000022.11:g.27799274C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu424Gly	missense variant	-	NC_000022.11:g.27799273T>C	NCI-TCGA
rs762023186	p.His431Gln	missense variant	-	NC_000022.11:g.27799251A>C	ExAC,gnomAD
rs767524875	p.His431Tyr	missense variant	-	NC_000022.11:g.27799253G>A	ExAC,gnomAD
rs774620804	p.Pro432His	missense variant	-	NC_000022.11:g.27799249G>T	ExAC,gnomAD
rs764284425	p.Pro433Ser	missense variant	-	NC_000022.11:g.27799247G>A	ExAC,TOPMed,gnomAD
rs764284425	p.Pro433Ala	missense variant	-	NC_000022.11:g.27799247G>C	ExAC,TOPMed,gnomAD
rs1340710132	p.Pro434Leu	missense variant	-	NC_000022.11:g.27799243G>A	gnomAD
rs759302025	p.Gln435Lys	missense variant	-	NC_000022.11:g.27799241G>T	ExAC,gnomAD
rs1229031654	p.Gln435His	missense variant	-	NC_000022.11:g.27799239C>G	gnomAD
rs1310055842	p.Ala437Val	missense variant	-	NC_000022.11:g.27799234G>A	gnomAD
rs770809748	p.Asn439Ser	missense variant	-	NC_000022.11:g.27799228T>C	ExAC,gnomAD
rs746919150	p.Gln440Lys	missense variant	-	NC_000022.11:g.27799226G>T	ExAC,gnomAD
rs1258431608	p.Gln440His	missense variant	-	NC_000022.11:g.27799224C>G	TOPMed
rs746919150	p.Gln440Glu	missense variant	-	NC_000022.11:g.27799226G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp446Asn	missense variant	-	NC_000022.11:g.27799208C>T	NCI-TCGA
NCI-TCGA novel	p.Asp446Tyr	missense variant	-	NC_000022.11:g.27799208C>A	NCI-TCGA
rs1464657331	p.Ala447Thr	missense variant	-	NC_000022.11:g.27799205C>T	gnomAD
rs375740551	p.Ala447Glu	missense variant	-	NC_000022.11:g.27799204G>T	ESP,ExAC,TOPMed,gnomAD
rs1455757896	p.Pro448Ala	missense variant	-	NC_000022.11:g.27799202G>C	gnomAD
rs1455757896	p.Pro448Thr	missense variant	-	NC_000022.11:g.27799202G>T	gnomAD
rs543407693	p.Pro449Leu	missense variant	-	NC_000022.11:g.27799198G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs543407693	p.Pro449Arg	missense variant	-	NC_000022.11:g.27799198G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs543407693	p.Pro449His	missense variant	-	NC_000022.11:g.27799198G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1438870643	p.Tyr450Asn	missense variant	-	NC_000022.11:g.27799196A>T	gnomAD
rs371377096	p.Tyr450Phe	missense variant	-	NC_000022.11:g.27799195T>A	ESP,ExAC,TOPMed,gnomAD
COSM4702773	p.Tyr450ThrPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27799197G>-	NCI-TCGA Cosmic
rs1197026364	p.Met451Val	missense variant	-	NC_000022.11:g.27799193T>C	gnomAD
rs1482029681	p.Met451Lys	missense variant	-	NC_000022.11:g.27799192A>T	gnomAD
COSM3553041	p.Met451Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799191C>T	NCI-TCGA Cosmic
rs1389457453	p.Asn452Lys	missense variant	-	NC_000022.11:g.27799188G>C	TOPMed
rs1279004620	p.Asn452Ser	missense variant	-	NC_000022.11:g.27799189T>C	gnomAD
rs756590961	p.Val453Glu	missense variant	-	NC_000022.11:g.27799186A>T	ExAC,gnomAD
rs368968399	p.Val453Leu	missense variant	-	NC_000022.11:g.27799187C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368968399	p.Val453Met	missense variant	-	NC_000022.11:g.27799187C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756590961	p.Val453Ala	missense variant	-	NC_000022.11:g.27799186A>G	ExAC,gnomAD
rs368968399	p.Val453Leu	missense variant	-	NC_000022.11:g.27799187C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768003794	p.Ala454Thr	missense variant	-	NC_000022.11:g.27799184C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala454Val	missense variant	-	NC_000022.11:g.27799183G>A	NCI-TCGA
rs1394222981	p.Arg456Lys	missense variant	-	NC_000022.11:g.27799177C>T	gnomAD
rs1374867520	p.Pro457Leu	missense variant	-	NC_000022.11:g.27799174G>A	gnomAD
rs907624224	p.Pro457Thr	missense variant	-	NC_000022.11:g.27799175G>T	TOPMed
rs1374867520	p.Pro457Gln	missense variant	-	NC_000022.11:g.27799174G>T	gnomAD
COSM1162257	p.Arg458His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799171C>T	NCI-TCGA Cosmic
rs760096510	p.Pro462Thr	missense variant	-	NC_000022.11:g.27799160G>T	TOPMed,gnomAD
rs760096510	p.Pro462Ser	missense variant	-	NC_000022.11:g.27799160G>A	TOPMed,gnomAD
rs1185969756	p.Ala465Gly	missense variant	-	NC_000022.11:g.27799150G>C	gnomAD
rs764343495	p.Ala465Ser	missense variant	-	NC_000022.11:g.27799151C>A	ExAC
rs763196629	p.Val467Ala	missense variant	-	NC_000022.11:g.27799144A>G	ExAC,gnomAD
rs763196629	p.Val467Gly	missense variant	-	NC_000022.11:g.27799144A>C	ExAC,gnomAD
rs1211027946	p.Asp468Val	missense variant	-	NC_000022.11:g.27799141T>A	gnomAD
rs1256140328	p.Asp468Asn	missense variant	-	NC_000022.11:g.27799142C>T	gnomAD
rs1366960883	p.Arg469Pro	missense variant	-	NC_000022.11:g.27799138C>G	TOPMed
NCI-TCGA novel	p.Arg469His	missense variant	-	NC_000022.11:g.27799138C>T	NCI-TCGA
rs1283508995	p.Ala471Thr	missense variant	-	NC_000022.11:g.27799133C>T	gnomAD
COSM1308031	p.Ser472Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799129G>A	NCI-TCGA Cosmic
rs1295931631	p.Gly475Cys	missense variant	-	NC_000022.11:g.27799121C>A	TOPMed
COSM1415392	p.Met477Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799113C>T	NCI-TCGA Cosmic
rs1389889288	p.His478Pro	missense variant	-	NC_000022.11:g.27799111T>G	gnomAD
rs1204326815	p.His478Gln	missense variant	-	NC_000022.11:g.27799110G>T	gnomAD
COSM726031	p.His478Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799112G>T	NCI-TCGA Cosmic
rs766141595	p.Asn479Asp	missense variant	-	NC_000022.11:g.27799109T>C	ExAC,gnomAD
rs1262282020	p.Asn479Ser	missense variant	-	NC_000022.11:g.27799108T>C	gnomAD
rs1342065664	p.Gly480Val	missense variant	-	NC_000022.11:g.27799105C>A	TOPMed
NCI-TCGA novel	p.Gly480Ser	missense variant	-	NC_000022.11:g.27799106C>T	NCI-TCGA
rs1242456786	p.Ala481Pro	missense variant	-	NC_000022.11:g.27799103C>G	TOPMed,gnomAD
rs1242456786	p.Ala481Thr	missense variant	-	NC_000022.11:g.27799103C>T	TOPMed,gnomAD
rs372510967	p.Asp483His	missense variant	-	NC_000022.11:g.27799097C>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Asp483Asn	missense variant	-	NC_000022.11:g.27799097C>T	NCI-TCGA
rs747699031	p.Asn484Asp	missense variant	-	NC_000022.11:g.27799094T>C	ExAC,gnomAD
rs1317988037	p.Leu486Phe	missense variant	-	NC_000022.11:g.27799088G>A	gnomAD
rs1387530096	p.Pro488His	missense variant	-	NC_000022.11:g.27799081G>T	gnomAD
rs1161856749	p.Ser489Phe	missense variant	-	NC_000022.11:g.27799078G>A	gnomAD
NCI-TCGA novel	p.Ala490Thr	missense variant	-	NC_000022.11:g.27799076C>T	NCI-TCGA
rs1419267334	p.Pro492Arg	missense variant	-	NC_000022.11:g.27799069G>C	gnomAD
rs768215798	p.Gly493Asp	missense variant	-	NC_000022.11:g.27799066C>T	ExAC,gnomAD
rs375280383	p.Leu494Val	missense variant	-	NC_000022.11:g.27799064G>C	ESP,TOPMed
rs180977192	p.Pro495Leu	missense variant	-	NC_000022.11:g.27799060G>A	1000Genomes,ExAC,gnomAD
rs1263535736	p.Gly496Ser	missense variant	-	NC_000022.11:g.27799058C>T	gnomAD
COSM726032	p.Gly496Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27799057C>T	NCI-TCGA Cosmic
rs1334044627	p.Phe498Val	missense variant	-	NC_000022.11:g.27799052A>C	gnomAD
rs1334044627	p.Phe498Ile	missense variant	-	NC_000022.11:g.27799052A>T	gnomAD
rs746216271	p.Thr499Arg	missense variant	-	NC_000022.11:g.27799048G>C	ExAC,gnomAD
rs746216271	p.Thr499Ile	missense variant	-	NC_000022.11:g.27799048G>A	ExAC,gnomAD
rs376469878	p.Pro500Leu	missense variant	-	NC_000022.11:g.27799045G>A	ESP,ExAC,gnomAD
rs1431698444	p.Pro501Arg	missense variant	-	NC_000022.11:g.27799042G>C	gnomAD
rs1431698444	p.Pro501His	missense variant	-	NC_000022.11:g.27799042G>T	gnomAD
rs200239973	p.Pro501Ser	missense variant	-	NC_000022.11:g.27799043G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1328460107	p.Val502Ala	missense variant	-	NC_000022.11:g.27799039A>G	gnomAD
rs758566582	p.Pro503His	missense variant	-	NC_000022.11:g.27799036G>T	ExAC,gnomAD
rs1200844687	p.Asp504Asn	missense variant	-	NC_000022.11:g.27799034C>T	TOPMed
rs1395848975	p.Ser505Arg	missense variant	-	NC_000022.11:g.27799031T>G	gnomAD
rs1167644434	p.Phe506Ile	missense variant	-	NC_000022.11:g.27799028A>T	gnomAD
rs370131609	p.Pro507Leu	missense variant	-	NC_000022.11:g.27799024G>A	ESP,ExAC,gnomAD
rs765373379	p.Ser508Leu	missense variant	-	NC_000022.11:g.27799021G>A	ExAC,gnomAD
rs750223477	p.Gly509Arg	missense variant	-	NC_000022.11:g.27799019C>T	ExAC,gnomAD
rs1465077970	p.Gly509Glu	missense variant	-	NC_000022.11:g.27799018C>T	TOPMed
rs1191503753	p.Pro510Leu	missense variant	-	NC_000022.11:g.27799015G>A	TOPMed,gnomAD
rs1457319768	p.His514Asp	missense variant	-	NC_000022.11:g.27799004G>C	gnomAD
rs767593022	p.Pro515Ser	missense variant	-	NC_000022.11:g.27799001G>A	ExAC,gnomAD
rs761791661	p.Pro515Leu	missense variant	-	NC_000022.11:g.27799000G>A	ExAC,TOPMed,gnomAD
rs768144174	p.Pro517Leu	missense variant	-	NC_000022.11:g.27798994G>A	ExAC,TOPMed,gnomAD
rs768144174	p.Pro517Arg	missense variant	-	NC_000022.11:g.27798994G>C	ExAC,TOPMed,gnomAD
rs762361626	p.His519Gln	missense variant	-	NC_000022.11:g.27798987G>C	ExAC,gnomAD
rs1341715257	p.Gln520Ter	stop gained	-	NC_000022.11:g.27798986G>A	gnomAD
rs1329898903	p.Ser521Cys	missense variant	-	NC_000022.11:g.27798982G>C	TOPMed
rs769307303	p.Leu522Gln	missense variant	-	NC_000022.11:g.27798979A>T	ExAC,TOPMed,gnomAD
rs1328372805	p.Gln523Pro	missense variant	-	NC_000022.11:g.27798976T>G	gnomAD
NCI-TCGA novel	p.Gln523Arg	missense variant	-	NC_000022.11:g.27798976T>C	NCI-TCGA
rs747461263	p.Gln526Arg	missense variant	-	NC_000022.11:g.27798967T>C	ExAC,gnomAD
rs1421204936	p.Gln530Leu	missense variant	-	NC_000022.11:g.27798955T>A	gnomAD
COSM1415390	p.Gln534His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798942C>A	NCI-TCGA Cosmic
rs1468512844	p.Gln535Pro	missense variant	-	NC_000022.11:g.27798940T>G	gnomAD
rs1180876503	p.Gln535Ter	stop gained	-	NC_000022.11:g.27798941G>A	TOPMed
rs755210327	p.Gln539Pro	missense variant	-	NC_000022.11:g.27798928T>G	ExAC,TOPMed,gnomAD
rs1278300199	p.Gln543Ter	stop gained	-	NC_000022.11:g.27798917G>A	gnomAD
rs750264301	p.Gln545Leu	missense variant	-	NC_000022.11:g.27798910T>A	ExAC,gnomAD
rs974447268	p.Gln549Lys	missense variant	-	NC_000022.11:g.27798899G>T	TOPMed,gnomAD
rs970567987	p.Gln550Arg	missense variant	-	NC_000022.11:g.27798895T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Arg551His	missense variant	-	NC_000022.11:g.27798892C>T	NCI-TCGA
rs1355718316	p.Gln552Pro	missense variant	-	NC_000022.11:g.27798889T>G	gnomAD
rs1310572906	p.Ala554Gly	missense variant	-	NC_000022.11:g.27798883G>C	gnomAD
rs1310572906	p.Ala554Val	missense variant	-	NC_000022.11:g.27798883G>A	gnomAD
rs751577015	p.Ala555Ser	missense variant	-	NC_000022.11:g.27798881C>A	ExAC,gnomAD
rs751577015	p.Ala555Thr	missense variant	-	NC_000022.11:g.27798881C>T	ExAC,gnomAD
rs1426520717	p.Leu556Pro	missense variant	-	NC_000022.11:g.27798877A>G	TOPMed
rs1375729564	p.Leu556Ile	missense variant	-	NC_000022.11:g.27798878G>T	gnomAD
rs763921294	p.Ser563Leu	missense variant	-	NC_000022.11:g.27798856G>A	ExAC
rs1406983495	p.Arg564Gln	missense variant	-	NC_000022.11:g.27798853C>T	gnomAD
rs1471131849	p.Asn565Ser	missense variant	-	NC_000022.11:g.27798850T>C	gnomAD
NCI-TCGA novel	p.Asn565Thr	missense variant	-	NC_000022.11:g.27798850T>G	NCI-TCGA
rs1187361029	p.Arg569Gln	missense variant	-	NC_000022.11:g.27798838C>T	gnomAD
COSM1033027	p.Arg569Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798839G>A	NCI-TCGA Cosmic
rs1486109355	p.Arg571Cys	missense variant	-	NC_000022.11:g.27798833G>A	gnomAD
rs1282809542	p.Arg571His	missense variant	-	NC_000022.11:g.27798832C>T	gnomAD
rs1282809542	p.Arg571Leu	missense variant	-	NC_000022.11:g.27798832C>A	gnomAD
rs1390275283	p.Pro573Thr	missense variant	-	NC_000022.11:g.27798827G>T	gnomAD
rs1316633559	p.Leu575Val	missense variant	-	NC_000022.11:g.27798821G>C	gnomAD
rs1458025954	p.Leu575Pro	missense variant	-	NC_000022.11:g.27798820A>G	TOPMed
rs1285413526	p.His580Pro	missense variant	-	NC_000022.11:g.27798805T>G	gnomAD
rs915506533	p.His580Gln	missense variant	-	NC_000022.11:g.27798804G>T	TOPMed,gnomAD
rs1225930353	p.Gly582Trp	missense variant	-	NC_000022.11:g.27798800C>A	gnomAD
rs959901947	p.Asp583Glu	missense variant	-	NC_000022.11:g.27798795G>C	TOPMed,gnomAD
rs762570901	p.Val584Met	missense variant	-	NC_000022.11:g.27798794C>T	ExAC,TOPMed,gnomAD
rs1329427475	p.Gln586His	missense variant	-	NC_000022.11:g.27798786C>G	TOPMed
rs1344335091	p.Gly588Ser	missense variant	-	NC_000022.11:g.27798782C>T	gnomAD
rs1031194144	p.Leu589Pro	missense variant	-	NC_000022.11:g.27798778A>G	TOPMed,gnomAD
rs993380596	p.Gly592Ser	missense variant	-	NC_000022.11:g.27798770C>T	gnomAD
rs774828320	p.Gly593Ser	missense variant	-	NC_000022.11:g.27798767C>T	ExAC,TOPMed,gnomAD
rs1259709767	p.Pro594Leu	missense variant	-	NC_000022.11:g.27798763G>A	TOPMed,gnomAD
rs45473596	p.Val595Met	missense variant	-	NC_000022.11:g.27798761C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs776996702	p.Gly596Ala	missense variant	-	NC_000022.11:g.27798757C>G	ExAC,gnomAD
rs1333315317	p.Gly597Ser	missense variant	-	NC_000022.11:g.27798755C>T	gnomAD
rs1234440747	p.Pro601Gln	missense variant	-	NC_000022.11:g.27798742G>T	gnomAD
rs1234440747	p.Pro601Leu	missense variant	-	NC_000022.11:g.27798742G>A	gnomAD
rs1314274269	p.Asn602Ile	missense variant	-	NC_000022.11:g.27798739T>A	gnomAD
rs1380128902	p.Arg605Cys	missense variant	-	NC_000022.11:g.27798731G>A	gnomAD
rs747370551	p.Arg605His	missense variant	-	NC_000022.11:g.27798730C>T	ExAC,gnomAD
rs1437082876	p.Glu606Lys	missense variant	-	NC_000022.11:g.27798728C>T	gnomAD
rs376119570	p.Gly608Val	missense variant	-	NC_000022.11:g.27798721C>A	ESP,TOPMed,gnomAD
rs1168469951	p.Ser609Gly	missense variant	-	NC_000022.11:g.27798719T>C	gnomAD
rs1456482916	p.Thr610Ser	missense variant	-	NC_000022.11:g.27798716T>A	TOPMed
rs778402442	p.Gly611Cys	missense variant	-	NC_000022.11:g.27798713C>A	ExAC,gnomAD
rs901375990	p.Gly611Asp	missense variant	-	NC_000022.11:g.27798712C>T	TOPMed,gnomAD
rs1214809970	p.Gly613Arg	missense variant	-	NC_000022.11:g.27798707C>T	gnomAD
rs1214809970	p.Gly613Arg	missense variant	-	NC_000022.11:g.27798707C>G	gnomAD
rs772438176	p.Arg614Leu	missense variant	-	NC_000022.11:g.27798703C>A	ExAC,gnomAD
rs1266663919	p.Arg614Ser	missense variant	-	NC_000022.11:g.27798704G>T	gnomAD
rs899142701	p.Leu615Val	missense variant	-	NC_000022.11:g.27798701G>C	TOPMed,gnomAD
rs1295933389	p.Gly616Val	missense variant	-	NC_000022.11:g.27798697C>A	gnomAD
rs1295933389	p.Gly616Asp	missense variant	-	NC_000022.11:g.27798697C>T	gnomAD
rs1230169529	p.Thr617Ile	missense variant	-	NC_000022.11:g.27798694G>A	gnomAD
rs778808295	p.Phe618Tyr	missense variant	-	NC_000022.11:g.27798691A>T	ExAC,TOPMed,gnomAD
rs529726950	p.Phe618Leu	missense variant	-	NC_000022.11:g.27798690G>T	1000Genomes,ExAC,gnomAD
rs778808295	p.Phe618Cys	missense variant	-	NC_000022.11:g.27798691A>C	ExAC,TOPMed,gnomAD
rs529726950	p.Phe618Leu	missense variant	-	NC_000022.11:g.27798690G>C	1000Genomes,ExAC,gnomAD
rs1392849225	p.Glu619Lys	missense variant	-	NC_000022.11:g.27798689C>T	gnomAD
rs1286033506	p.Gln621Arg	missense variant	-	NC_000022.11:g.27798682T>C	TOPMed
rs754046360	p.Ala622Val	missense variant	-	NC_000022.11:g.27798679G>A	ExAC,gnomAD
rs1170653052	p.Pro623Arg	missense variant	-	NC_000022.11:g.27798676G>C	gnomAD
rs780418398	p.Pro623Thr	missense variant	-	NC_000022.11:g.27798677G>T	ExAC,gnomAD
rs1194696037	p.Leu625Val	missense variant	-	NC_000022.11:g.27798671A>C	gnomAD
rs1193567819	p.Glu628Lys	missense variant	-	NC_000022.11:g.27798662C>T	gnomAD
rs758226718	p.Glu628Asp	missense variant	-	NC_000022.11:g.27798660C>G	ExAC,TOPMed,gnomAD
rs1206798235	p.Trp631Arg	missense variant	-	NC_000022.11:g.27798653A>G	gnomAD
rs1268827844	p.Trp631Cys	missense variant	-	NC_000022.11:g.27798651C>A	TOPMed
rs1345250108	p.Trp631Ter	stop gained	-	NC_000022.11:g.27798652C>T	gnomAD
rs1184490778	p.Gly634Val	missense variant	-	NC_000022.11:g.27798643C>A	TOPMed
rs764672151	p.Gly634Arg	missense variant	-	NC_000022.11:g.27798644C>G	ExAC,TOPMed,gnomAD
rs764672151	p.Gly634Ser	missense variant	-	NC_000022.11:g.27798644C>T	ExAC,TOPMed,gnomAD
rs184710088	p.Pro635Gln	missense variant	-	NC_000022.11:g.27798640G>T	1000Genomes
rs1234684622	p.His636Arg	missense variant	-	NC_000022.11:g.27798637T>C	TOPMed,gnomAD
rs1332768927	p.Pro637Leu	missense variant	-	NC_000022.11:g.27798634G>A	TOPMed,gnomAD
rs1332768927	p.Pro637Gln	missense variant	-	NC_000022.11:g.27798634G>T	TOPMed,gnomAD
rs1304875011	p.Pro638Gln	missense variant	-	NC_000022.11:g.27798631G>T	gnomAD
rs1415615852	p.Pro638Ala	missense variant	-	NC_000022.11:g.27798632G>C	TOPMed
rs1374212365	p.Pro639Leu	missense variant	-	NC_000022.11:g.27798628G>A	TOPMed,gnomAD
rs759194922	p.Gly640Arg	missense variant	-	NC_000022.11:g.27798626C>T	ExAC,gnomAD
rs766003256	p.Pro644His	missense variant	-	NC_000022.11:g.27798613G>T	ExAC
rs1411102990	p.Pro644Thr	missense variant	-	NC_000022.11:g.27798614G>T	TOPMed
rs761152707	p.Arg645Gly	missense variant	-	NC_000022.11:g.27798611G>C	ExAC,TOPMed,gnomAD
rs761152707	p.Arg645Cys	missense variant	-	NC_000022.11:g.27798611G>A	ExAC,TOPMed,gnomAD
rs773420792	p.Arg645Leu	missense variant	-	NC_000022.11:g.27798610C>A	ExAC,gnomAD
rs774492680	p.Arg646Ser	missense variant	-	NC_000022.11:g.27798606C>A	ExAC,TOPMed,gnomAD
rs748544919	p.Arg646Thr	missense variant	-	NC_000022.11:g.27798607C>G	ExAC,gnomAD
rs748544919	p.Arg646Lys	missense variant	-	NC_000022.11:g.27798607C>T	ExAC,gnomAD
rs1250662631	p.Gly648Ser	missense variant	-	NC_000022.11:g.27798602C>T	gnomAD
rs1484496351	p.Gly649Ser	missense variant	-	NC_000022.11:g.27798599C>T	gnomAD
rs1211157447	p.Ser650Leu	missense variant	-	NC_000022.11:g.27798595G>A	gnomAD
rs756370971	p.Pro653Ala	missense variant	-	NC_000022.11:g.27798587G>C	ExAC,TOPMed,gnomAD
rs1485554524	p.Ala654Thr	missense variant	-	NC_000022.11:g.27798584C>T	gnomAD
rs777385399	p.Cys656Ser	missense variant	-	NC_000022.11:g.27798577C>G	ExAC,TOPMed,gnomAD
rs746849682	p.Cys656Gly	missense variant	-	NC_000022.11:g.27798578A>C	ExAC,gnomAD
rs1313788642	p.Gly657Ala	missense variant	-	NC_000022.11:g.27798574C>G	gnomAD
rs1249619713	p.Pro658Leu	missense variant	-	NC_000022.11:g.27798571G>A	TOPMed
rs541205461	p.Pro661Leu	missense variant	-	NC_000022.11:g.27798562G>A	1000Genomes,ExAC,gnomAD
rs766060759	p.Pro665Leu	missense variant	-	NC_000022.11:g.27798550G>A	ExAC,TOPMed,gnomAD
rs760207442	p.Pro666Thr	missense variant	-	NC_000022.11:g.27798548G>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro666LeuPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.27798547G>-	NCI-TCGA
rs201191310	p.Pro668Leu	missense variant	-	NC_000022.11:g.27798541G>A	ESP,ExAC,TOPMed,gnomAD
rs1259438663	p.Pro669Ser	missense variant	-	NC_000022.11:g.27798539G>A	gnomAD
rs1204277623	p.Pro669Arg	missense variant	-	NC_000022.11:g.27798538G>C	gnomAD
rs200288788	p.Ser672Leu	missense variant	-	NC_000022.11:g.27798529G>A	ESP,ExAC,TOPMed,gnomAD
rs45542935	p.Leu675Val	missense variant	-	NC_000022.11:g.27798521G>C	ExAC,TOPMed,gnomAD
rs769259121	p.Arg677Gln	missense variant	-	NC_000022.11:g.27798514C>T	ExAC,gnomAD
rs1318097548	p.Gln681Lys	missense variant	-	NC_000022.11:g.27798503G>T	gnomAD
rs1383068951	p.Gln681Pro	missense variant	-	NC_000022.11:g.27798502T>G	gnomAD
rs746022602	p.Pro683Arg	missense variant	-	NC_000022.11:g.27798496G>C	ExAC,TOPMed,gnomAD
rs746022602	p.Pro683Leu	missense variant	-	NC_000022.11:g.27798496G>A	ExAC,TOPMed,gnomAD
rs1461361942	p.Met684Thr	missense variant	-	NC_000022.11:g.27798493A>G	TOPMed,gnomAD
rs532714157	p.Arg685Gly	missense variant	-	NC_000022.11:g.27798491T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs758198222	p.Arg685Lys	missense variant	-	NC_000022.11:g.27798490C>T	ExAC,gnomAD
rs565227821	p.Met686Ile	missense variant	-	NC_000022.11:g.27798486C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs565227821	p.Met686Ile	missense variant	-	NC_000022.11:g.27798486C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1192207684	p.Pro687Ser	missense variant	-	NC_000022.11:g.27798485G>A	gnomAD
rs1465233178	p.Glu689Gly	missense variant	-	NC_000022.11:g.27798478T>C	gnomAD
rs1023688266	p.His691Arg	missense variant	-	NC_000022.11:g.27798472T>C	TOPMed
rs1211792024	p.Val692Met	missense variant	-	NC_000022.11:g.27798470C>T	TOPMed,gnomAD
rs1467950542	p.Pro693Arg	missense variant	-	NC_000022.11:g.27798466G>C	gnomAD
rs755794163	p.Gly699Ser	missense variant	-	NC_000022.11:g.27798449C>T	ExAC,gnomAD
rs755794163	p.Gly699Cys	missense variant	-	NC_000022.11:g.27798449C>A	ExAC,gnomAD
rs1367862555	p.Gly703Ala	missense variant	-	NC_000022.11:g.27798436C>G	gnomAD
rs1228417715	p.Gly703Arg	missense variant	-	NC_000022.11:g.27798437C>T	gnomAD
rs750109978	p.Gly704Asp	missense variant	-	NC_000022.11:g.27798433C>T	ExAC,gnomAD
rs1304297860	p.Gly704Ser	missense variant	-	NC_000022.11:g.27798434C>T	gnomAD
rs750109978	p.Gly704Val	missense variant	-	NC_000022.11:g.27798433C>A	ExAC,gnomAD
rs1432467365	p.Leu706Met	missense variant	-	NC_000022.11:g.27798428G>T	TOPMed,gnomAD
rs1323662445	p.Gly707Arg	missense variant	-	NC_000022.11:g.27798425C>G	gnomAD
rs1406537364	p.Leu709Val	missense variant	-	NC_000022.11:g.27798419G>C	gnomAD
rs767184865	p.Gln711His	missense variant	-	NC_000022.11:g.27798411C>A	ExAC,TOPMed,gnomAD
rs1375303292	p.Gln713His	missense variant	-	NC_000022.11:g.27798405C>A	gnomAD
rs762130242	p.Gln713Arg	missense variant	-	NC_000022.11:g.27798406T>C	ExAC,TOPMed,gnomAD
rs1391823974	p.Ser714Leu	missense variant	-	NC_000022.11:g.27798403G>A	gnomAD
rs1191471486	p.Pro715Leu	missense variant	-	NC_000022.11:g.27798400G>A	gnomAD
rs1372397089	p.Pro715Ser	missense variant	-	NC_000022.11:g.27798401G>A	TOPMed
rs1247151797	p.Gly716Arg	missense variant	-	NC_000022.11:g.27798398C>T	gnomAD
rs375254416	p.Gly716Glu	missense variant	-	NC_000022.11:g.27798397C>T	ESP,ExAC,TOPMed,gnomAD
rs1436214785	p.Ala717Thr	missense variant	-	NC_000022.11:g.27798395C>T	gnomAD
rs1206192890	p.Gly718Val	missense variant	-	NC_000022.11:g.27798391C>A	gnomAD
rs1344541474	p.Val719Leu	missense variant	-	NC_000022.11:g.27798389C>A	gnomAD
rs1427996514	p.Val719Ala	missense variant	-	NC_000022.11:g.27798388A>G	gnomAD
rs1389908678	p.Pro722Thr	missense variant	-	NC_000022.11:g.27798380G>T	TOPMed
rs1326310235	p.Ser726Ala	missense variant	-	NC_000022.11:g.27798368A>C	TOPMed
rs763502112	p.Glu727Asp	missense variant	-	NC_000022.11:g.27798363C>A	ExAC,gnomAD
rs1333528688	p.Glu727Lys	missense variant	-	NC_000022.11:g.27798365C>T	gnomAD
rs1327565554	p.Glu727Gly	missense variant	-	NC_000022.11:g.27798364T>C	gnomAD
rs775728511	p.Arg728Leu	missense variant	-	NC_000022.11:g.27798361C>A	ExAC,gnomAD
rs775728511	p.Arg728His	missense variant	-	NC_000022.11:g.27798361C>T	ExAC,gnomAD
rs1425598834	p.Pro730Ser	missense variant	-	NC_000022.11:g.27798356G>A	gnomAD
rs1425598834	p.Pro730Thr	missense variant	-	NC_000022.11:g.27798356G>T	gnomAD
rs1276624695	p.Pro731Ala	missense variant	-	NC_000022.11:g.27798353G>C	TOPMed
rs1192904132	p.Pro732Leu	missense variant	-	NC_000022.11:g.27798349G>A	TOPMed,gnomAD
rs1232408624	p.Asp734Ala	missense variant	-	NC_000022.11:g.27798343T>G	TOPMed,gnomAD
rs759661092	p.Thr737Lys	missense variant	-	NC_000022.11:g.27798334G>T	ExAC,TOPMed,gnomAD
rs1484167641	p.Thr737Ala	missense variant	-	NC_000022.11:g.27798335T>C	gnomAD
rs1281141480	p.Gly741Arg	missense variant	-	NC_000022.11:g.27798323C>G	gnomAD
rs1222602066	p.Gly742Ser	missense variant	-	NC_000022.11:g.27798320C>T	gnomAD
rs747978272	p.Gln743His	missense variant	-	NC_000022.11:g.27798315C>A	ExAC,TOPMed,gnomAD
rs768605323	p.Gly745Cys	missense variant	-	NC_000022.11:g.27798311C>A	ExAC,gnomAD
rs768605323	p.Gly745Ser	missense variant	-	NC_000022.11:g.27798311C>T	ExAC,gnomAD
rs1359570250	p.Ala750Val	missense variant	-	NC_000022.11:g.27798295G>A	gnomAD
rs892182597	p.Gly752Cys	missense variant	-	NC_000022.11:g.27798290C>A	TOPMed,gnomAD
rs892182597	p.Gly752Ser	missense variant	-	NC_000022.11:g.27798290C>T	TOPMed,gnomAD
rs1407090323	p.Gly752Asp	missense variant	-	NC_000022.11:g.27798289C>T	gnomAD
rs999005910	p.Arg753Gln	missense variant	-	NC_000022.11:g.27798286C>T	TOPMed,gnomAD
rs1255476603	p.Ser755Pro	missense variant	-	NC_000022.11:g.27798281A>G	gnomAD
rs1413667325	p.Ser755Tyr	missense variant	-	NC_000022.11:g.27798280G>T	TOPMed
rs755637128	p.Thr756Met	missense variant	-	NC_000022.11:g.27798277G>A	ExAC,gnomAD
rs1214027780	p.Pro757Leu	missense variant	-	NC_000022.11:g.27798274G>A	gnomAD
rs1287429901	p.His758Leu	missense variant	-	NC_000022.11:g.27798271T>A	TOPMed
rs1269244143	p.His758Tyr	missense variant	-	NC_000022.11:g.27798272G>A	gnomAD
NCI-TCGA novel	p.His758Gln	missense variant	-	NC_000022.11:g.27798270G>T	NCI-TCGA
rs1330671939	p.Ser759Asn	missense variant	-	NC_000022.11:g.27798268C>T	TOPMed,gnomAD
rs904678119	p.Ser759Arg	missense variant	-	NC_000022.11:g.27798267G>T	gnomAD
rs1043351855	p.Gly760Arg	missense variant	-	NC_000022.11:g.27798266C>G	TOPMed,gnomAD
rs866112872	p.Gly762Asp	missense variant	-	NC_000022.11:g.27798259C>T	gnomAD
rs866112872	p.Gly762Val	missense variant	-	NC_000022.11:g.27798259C>A	gnomAD
rs756889884	p.Val763Leu	missense variant	-	NC_000022.11:g.27798257C>A	ExAC,gnomAD
COSM4103226	p.Val763Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798257C>T	NCI-TCGA Cosmic
rs751992136	p.Asn764Lys	missense variant	-	NC_000022.11:g.27798252G>T	ExAC,TOPMed,gnomAD
rs1458729211	p.Pro766Ser	missense variant	-	NC_000022.11:g.27798248G>A	TOPMed,gnomAD
rs1415818999	p.Pro767Leu	missense variant	-	NC_000022.11:g.27798244G>A	gnomAD
rs1416156163	p.Ser768Asn	missense variant	-	NC_000022.11:g.27798241C>T	gnomAD
rs1475329066	p.Ala769Thr	missense variant	-	NC_000022.11:g.27798239C>T	gnomAD
rs764493322	p.Ala769Gly	missense variant	-	NC_000022.11:g.27798238G>C	ExAC,TOPMed,gnomAD
rs1294573254	p.Gly772Ser	missense variant	-	NC_000022.11:g.27798230C>T	TOPMed,gnomAD
rs1030625906	p.Gly772Val	missense variant	-	NC_000022.11:g.27798229C>A	TOPMed
rs1467498749	p.Gly773Asp	missense variant	-	NC_000022.11:g.27798226C>T	gnomAD
rs763561368	p.Ser775Gly	missense variant	-	NC_000022.11:g.27798221T>C	ExAC,TOPMed,gnomAD
COSM3912549	p.Ser776Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798217G>A	NCI-TCGA Cosmic
rs753326507	p.Gly777Asp	missense variant	-	NC_000022.11:g.27798214C>T	ExAC,TOPMed,gnomAD
rs1057018621	p.Gly779Ser	missense variant	-	NC_000022.11:g.27798209C>T	TOPMed,gnomAD
rs1364255164	p.Gly781Val	missense variant	-	NC_000022.11:g.27798202C>A	TOPMed,gnomAD
rs1364255164	p.Gly781Ala	missense variant	-	NC_000022.11:g.27798202C>G	TOPMed,gnomAD
rs776741937	p.Gly782Val	missense variant	-	NC_000022.11:g.27798199C>A	ExAC,TOPMed,gnomAD
rs776741937	p.Gly782Glu	missense variant	-	NC_000022.11:g.27798199C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly782Arg	missense variant	-	NC_000022.11:g.27798200C>T	NCI-TCGA
rs892879086	p.Gly783Arg	missense variant	-	NC_000022.11:g.27798197C>G	TOPMed,gnomAD
rs372652185	p.Gly783Asp	missense variant	-	NC_000022.11:g.27798196C>T	TOPMed,gnomAD
rs372652185	p.Gly783Val	missense variant	-	NC_000022.11:g.27798196C>A	TOPMed,gnomAD
rs919314477	p.Ala784Thr	missense variant	-	NC_000022.11:g.27798194C>T	gnomAD
rs905331236	p.Tyr785Ser	missense variant	-	NC_000022.11:g.27798190T>G	gnomAD
rs905331236	p.Tyr785Cys	missense variant	-	NC_000022.11:g.27798190T>C	gnomAD
rs774134808	p.Pro786Thr	missense variant	-	NC_000022.11:g.27798188G>T	ExAC,gnomAD
rs1190859150	p.Pro787Leu	missense variant	-	NC_000022.11:g.27798184G>A	gnomAD
rs768504786	p.Gln788His	missense variant	-	NC_000022.11:g.27798180C>G	ExAC,TOPMed
rs1364209888	p.Gln788Leu	missense variant	-	NC_000022.11:g.27798181T>A	TOPMed
rs1252850630	p.Phe791Ile	missense variant	-	NC_000022.11:g.27798173A>T	gnomAD
rs769735331	p.Pro793Thr	missense variant	-	NC_000022.11:g.27798167G>T	ExAC,gnomAD
rs780701186	p.Gln795Lys	missense variant	-	NC_000022.11:g.27798161G>T	ExAC,gnomAD
rs868435747	p.Arg796His	missense variant	-	NC_000022.11:g.27798157C>T	gnomAD
rs1340971543	p.Arg796Ser	missense variant	-	NC_000022.11:g.27798158G>T	gnomAD
rs1340971543	p.Arg796Cys	missense variant	-	NC_000022.11:g.27798158G>A	gnomAD
rs1230266680	p.Thr797Ile	missense variant	-	NC_000022.11:g.27798154G>A	gnomAD
rs756980358	p.Ser798Ala	missense variant	-	NC_000022.11:g.27798152A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser798Leu	missense variant	-	NC_000022.11:g.27798151G>A	NCI-TCGA
rs1387262862	p.Ala799Val	missense variant	-	NC_000022.11:g.27798148G>A	gnomAD
rs777565577	p.Ser800Gly	missense variant	-	NC_000022.11:g.27798146T>C	ExAC,TOPMed
NCI-TCGA novel	p.Ser800Cys	missense variant	-	NC_000022.11:g.27798146T>A	NCI-TCGA
COSM726033	p.Leu802Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798138C>A	NCI-TCGA Cosmic
rs934280115	p.Ser806Trp	missense variant	-	NC_000022.11:g.27798127G>C	TOPMed
rs765707963	p.Ser806Pro	missense variant	-	NC_000022.11:g.27798128A>G	ExAC,gnomAD
COSM3553039	p.Ser806Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798127G>A	NCI-TCGA Cosmic
COSM6095201	p.Gly808Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798121C>G	NCI-TCGA Cosmic
rs753889561	p.Ser809Phe	missense variant	-	NC_000022.11:g.27798118G>A	ExAC,TOPMed,gnomAD
rs773477405	p.Pro813Ala	missense variant	-	NC_000022.11:g.27798107G>C	ExAC,gnomAD
rs368952908	p.Ser814Gly	missense variant	-	NC_000022.11:g.27798104T>C	ESP,ExAC,TOPMed,gnomAD
rs368952908	p.Ser814Cys	missense variant	-	NC_000022.11:g.27798104T>A	ESP,ExAC,TOPMed,gnomAD
rs1345534879	p.Lys816Arg	missense variant	-	NC_000022.11:g.27798097T>C	gnomAD
rs1206845311	p.Lys816Glu	missense variant	-	NC_000022.11:g.27798098T>C	gnomAD
rs775314916	p.Asp817Gly	missense variant	-	NC_000022.11:g.27798094T>C	ExAC
rs1424791155	p.Asn818Ser	missense variant	-	NC_000022.11:g.27798091T>C	TOPMed
rs1255170657	p.Asn818Lys	missense variant	-	NC_000022.11:g.27798090G>C	gnomAD
rs1233928604	p.Leu819Val	missense variant	-	NC_000022.11:g.27798089G>C	gnomAD
rs1313836059	p.Phe820Leu	missense variant	-	NC_000022.11:g.27798084G>T	TOPMed,gnomAD
COSM2935762	p.Gly821Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798083C>T	NCI-TCGA Cosmic
rs769641013	p.Gln822His	missense variant	-	NC_000022.11:g.27798078C>A	ExAC,gnomAD
COSM3553038	p.Gln822Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27798080G>A	NCI-TCGA Cosmic
rs1409219109	p.Cys824Phe	missense variant	-	NC_000022.11:g.27798073C>A	gnomAD
rs1413141281	p.Ala826Asp	missense variant	-	NC_000022.11:g.27798067G>T	gnomAD
rs776007987	p.Ser829Phe	missense variant	-	NC_000022.11:g.27798058G>A	ExAC,gnomAD
rs1372550171	p.Gln833Arg	missense variant	-	NC_000022.11:g.27798046T>C	TOPMed
NCI-TCGA novel	p.Asn834Lys	missense variant	-	NC_000022.11:g.27798042G>T	NCI-TCGA
COSM6162043	p.Asn834Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798043T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Met835Ile	missense variant	-	NC_000022.11:g.27798039C>T	NCI-TCGA
rs746505688	p.Ser838Ile	missense variant	-	NC_000022.11:g.27798031C>A	ExAC,gnomAD
rs1183955186	p.Ala841Pro	missense variant	-	NC_000022.11:g.27798023C>G	gnomAD
rs916769338	p.Ala841Val	missense variant	-	NC_000022.11:g.27798022G>A	TOPMed,gnomAD
rs916769338	p.Ala841Asp	missense variant	-	NC_000022.11:g.27798022G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala841ProPheSerTerUnk	frameshift	-	NC_000022.11:g.27798023C>-	NCI-TCGA
rs758093453	p.Asn843Ile	missense variant	-	NC_000022.11:g.27798016T>A	ExAC,gnomAD
COSM6095202	p.Asn843Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798015G>T	NCI-TCGA Cosmic
rs372574119	p.Asn845Lys	missense variant	-	NC_000022.11:g.27798009G>T	ESP,ExAC,TOPMed,gnomAD
rs372574119	p.Asn845Lys	missense variant	-	NC_000022.11:g.27798009G>C	ESP,ExAC,TOPMed,gnomAD
rs1397582242	p.Val846Ala	missense variant	-	NC_000022.11:g.27798007A>G	TOPMed
COSM1033026	p.Thr847Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27798004G>C	NCI-TCGA Cosmic
rs779290623	p.Asn849Asp	missense variant	-	NC_000022.11:g.27797999T>C	ExAC,gnomAD
rs1312564293	p.Asn849Ser	missense variant	-	NC_000022.11:g.27797998T>C	TOPMed
NCI-TCGA novel	p.Lys850Asn	missense variant	-	NC_000022.11:g.27797994C>G	NCI-TCGA
rs1227699457	p.Asn852Ser	missense variant	-	NC_000022.11:g.27797989T>C	TOPMed,gnomAD
rs755457164	p.Asn852His	missense variant	-	NC_000022.11:g.27797990T>G	ExAC,gnomAD
COSM1415388	p.Pro853Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797986G>A	NCI-TCGA Cosmic
rs1335288667	p.Gly856Asp	missense variant	-	NC_000022.11:g.27797977C>T	gnomAD
rs756231606	p.Gly856Ser	missense variant	-	NC_000022.11:g.27797978C>T	ExAC,gnomAD
rs767758045	p.Arg858Gly	missense variant	-	NC_000022.11:g.27797972T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys859Ile	missense variant	-	NC_000022.11:g.27797968T>A	NCI-TCGA
rs181493013	p.Asn863Asp	missense variant	-	NC_000022.11:g.27797957T>C	1000Genomes
rs1458205467	p.Glu864Gln	missense variant	-	NC_000022.11:g.27797954C>G	gnomAD
rs775159668	p.Ala868Ser	missense variant	-	NC_000022.11:g.27797942C>A	ExAC,gnomAD
rs776690759	p.Ala871Val	missense variant	-	NC_000022.11:g.27797932G>A	ExAC,gnomAD
rs759248065	p.Ala871Thr	missense variant	-	NC_000022.11:g.27797933C>T	ExAC,gnomAD
rs1425399383	p.Gly872Ser	missense variant	-	NC_000022.11:g.27797930C>T	gnomAD
rs1208074484	p.Gly875Val	missense variant	-	NC_000022.11:g.27797920C>A	gnomAD
rs1230953219	p.Ser876Leu	missense variant	-	NC_000022.11:g.27797917G>A	gnomAD
rs1203161294	p.Asp877Gly	missense variant	-	NC_000022.11:g.27797914T>C	TOPMed
NCI-TCGA novel	p.Asp877His	missense variant	-	NC_000022.11:g.27797915C>G	NCI-TCGA
rs772812582	p.Phe879Val	missense variant	-	NC_000022.11:g.27797909A>C	ExAC,gnomAD
rs1211832836	p.Phe879Leu	missense variant	-	NC_000022.11:g.27797907G>T	TOPMed,gnomAD
rs1256248963	p.Phe879Cys	missense variant	-	NC_000022.11:g.27797908A>C	TOPMed
rs909283714	p.Gly882Arg	missense variant	-	NC_000022.11:g.27797900C>T	TOPMed
rs1285075317	p.Gly882Ala	missense variant	-	NC_000022.11:g.27797899C>G	gnomAD
rs1297278365	p.Pro885His	missense variant	-	NC_000022.11:g.27797890G>T	gnomAD
rs769120831	p.Ala887Val	missense variant	-	NC_000022.11:g.27797884G>A	ExAC,TOPMed,gnomAD
rs1403168094	p.Pro890Ser	missense variant	-	NC_000022.11:g.27797876G>A	gnomAD
rs1043581902	p.Gly892Cys	missense variant	-	NC_000022.11:g.27797870C>A	gnomAD
rs1327241021	p.Pro893Leu	missense variant	-	NC_000022.11:g.27797866G>A	gnomAD
rs1388123659	p.Thr896Ile	missense variant	-	NC_000022.11:g.27797857G>A	gnomAD
rs780575043	p.Ser897Cys	missense variant	-	NC_000022.11:g.27797855T>A	ExAC,gnomAD
rs372371814	p.Ser899Thr	missense variant	-	NC_000022.11:g.27797848C>G	ESP,TOPMed,gnomAD
rs372371814	p.Ser899Asn	missense variant	-	NC_000022.11:g.27797848C>T	ESP,TOPMed,gnomAD
rs1249739326	p.Gly900Cys	missense variant	-	NC_000022.11:g.27797846C>A	gnomAD
rs750523328	p.Lys902Arg	missense variant	-	NC_000022.11:g.27797839T>C	ExAC,TOPMed,gnomAD
rs894706519	p.Ala903Ser	missense variant	-	NC_000022.11:g.27797837C>A	TOPMed,gnomAD
rs1274394739	p.Pro906Ser	missense variant	-	NC_000022.11:g.27797828G>A	gnomAD
rs1301964310	p.Asn908Ser	missense variant	-	NC_000022.11:g.27797821T>C	gnomAD
rs201879268	p.Pro909Ala	missense variant	-	NC_000022.11:g.27797819G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs201879268	p.Pro909Ser	missense variant	-	NC_000022.11:g.27797819G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1330045262	p.Pro909Leu	missense variant	-	NC_000022.11:g.27797818G>A	gnomAD
rs759426207	p.Pro910Ser	missense variant	-	NC_000022.11:g.27797816G>A	ExAC,gnomAD
rs753546292	p.Ala911Thr	missense variant	-	NC_000022.11:g.27797813C>T	ExAC,TOPMed,gnomAD
rs1167730375	p.Gly913Glu	missense variant	-	NC_000022.11:g.27797806C>T	gnomAD
NCI-TCGA novel	p.Gly913Arg	missense variant	-	NC_000022.11:g.27797807C>T	NCI-TCGA
rs1417246959	p.Asp914Tyr	missense variant	-	NC_000022.11:g.27797804C>A	gnomAD
rs760644666	p.Gly915Asp	missense variant	-	NC_000022.11:g.27797800C>T	ExAC,TOPMed,gnomAD
rs760644666	p.Gly915Val	missense variant	-	NC_000022.11:g.27797800C>A	ExAC,TOPMed,gnomAD
rs760644666	p.Gly915Ala	missense variant	-	NC_000022.11:g.27797800C>G	ExAC,TOPMed,gnomAD
COSM1308030	p.Gly915Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797801C>T	NCI-TCGA Cosmic
rs1313435023	p.Thr916Ile	missense variant	-	NC_000022.11:g.27797797G>A	TOPMed
rs201995779	p.Thr916Pro	missense variant	-	NC_000022.11:g.27797798T>G	ExAC,gnomAD
rs536903439	p.Ser917Gly	missense variant	-	NC_000022.11:g.27797795T>C	1000Genomes,ExAC,gnomAD
rs761227164	p.Ser917Asn	missense variant	-	NC_000022.11:g.27797794C>T	ExAC,gnomAD
rs774099251	p.Asn921Ser	missense variant	-	NC_000022.11:g.27797782T>C	ExAC,gnomAD
rs768158784	p.Tyr922Cys	missense variant	-	NC_000022.11:g.27797779T>C	ExAC,gnomAD
rs1206125603	p.Glu925Lys	missense variant	-	NC_000022.11:g.27797771C>T	gnomAD
rs1160258084	p.Thr927Met	missense variant	-	NC_000022.11:g.27797764G>A	TOPMed,gnomAD
rs746306235	p.Ser928Leu	missense variant	-	NC_000022.11:g.27797761G>A	ExAC,TOPMed,gnomAD
rs781660944	p.Asn930Asp	missense variant	-	NC_000022.11:g.27797756T>C	ExAC,gnomAD
rs757417594	p.Asp931Glu	missense variant	-	NC_000022.11:g.27797751G>T	ExAC,TOPMed,gnomAD
rs1348079246	p.Gly932Ser	missense variant	-	NC_000022.11:g.27797750C>T	gnomAD
rs1307088086	p.Gly932Asp	missense variant	-	NC_000022.11:g.27797749C>T	gnomAD
rs778097667	p.Lys933Met	missense variant	-	NC_000022.11:g.27797746T>A	ExAC,gnomAD
rs758509467	p.Pro934Leu	missense variant	-	NC_000022.11:g.27797743G>A	ExAC,gnomAD
rs1425710106	p.Val935Ile	missense variant	-	NC_000022.11:g.27797741C>T	gnomAD
rs1471686574	p.Gly937Val	missense variant	-	NC_000022.11:g.27797734C>A	gnomAD
rs1183221701	p.Gly939Asp	missense variant	-	NC_000022.11:g.27797728C>T	gnomAD
rs750454755	p.Arg941Gln	missense variant	-	NC_000022.11:g.27797722C>T	ExAC,TOPMed,gnomAD
rs760696011	p.Arg941Trp	missense variant	-	NC_000022.11:g.27797723G>A	ExAC,gnomAD
rs767537756	p.Gly942Arg	missense variant	-	NC_000022.11:g.27797720C>T	ExAC,gnomAD
rs1281429960	p.Gly942Glu	missense variant	-	NC_000022.11:g.27797719C>T	gnomAD
rs1326517949	p.Arg943Leu	missense variant	-	NC_000022.11:g.27797716C>A	TOPMed,gnomAD
rs1326517949	p.Arg943Gln	missense variant	-	NC_000022.11:g.27797716C>T	TOPMed,gnomAD
rs773690882	p.Gly944Asp	missense variant	-	NC_000022.11:g.27797713C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly944ValPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.27797713C>-	NCI-TCGA
rs768373028	p.Arg945His	missense variant	-	NC_000022.11:g.27797710C>T	ExAC,TOPMed,gnomAD
rs768373028	p.Arg945Leu	missense variant	-	NC_000022.11:g.27797710C>A	ExAC,TOPMed,gnomAD
rs1228656383	p.Arg945Cys	missense variant	-	NC_000022.11:g.27797711G>A	TOPMed,gnomAD
rs762455386	p.Arg946Ser	missense variant	-	NC_000022.11:g.27797706T>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg948GlyPheSerTerUnk	frameshift	-	NC_000022.11:g.27797702T>-	NCI-TCGA
NCI-TCGA novel	p.Asp949Asn	missense variant	-	NC_000022.11:g.27797699C>T	NCI-TCGA
rs775835704	p.Ser950Thr	missense variant	-	NC_000022.11:g.27797695C>G	ExAC,gnomAD
rs1457593854	p.Gly951Ser	missense variant	-	NC_000022.11:g.27797693C>T	TOPMed
rs746216450	p.Val953Met	missense variant	-	NC_000022.11:g.27797687C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro955His	missense variant	-	NC_000022.11:g.27797680G>T	NCI-TCGA
rs747144553	p.Gly956Asp	missense variant	-	NC_000022.11:g.27797677C>T	ExAC,gnomAD
rs747144553	p.Gly956Val	missense variant	-	NC_000022.11:g.27797677C>A	ExAC,gnomAD
rs1411814443	p.Thr957Asn	missense variant	-	NC_000022.11:g.27797674G>T	gnomAD
rs1473362743	p.Phe958Leu	missense variant	-	NC_000022.11:g.27797672A>G	gnomAD
rs1361891934	p.Asp960Tyr	missense variant	-	NC_000022.11:g.27797666C>A	gnomAD
NCI-TCGA novel	p.Lys961Asn	missense variant	-	NC_000022.11:g.27797661C>A	NCI-TCGA
rs756034616	p.Ser963Ala	missense variant	-	NC_000022.11:g.27797657A>C	ExAC,TOPMed,gnomAD
rs750209523	p.Ser963Trp	missense variant	-	NC_000022.11:g.27797656G>C	ExAC,TOPMed,gnomAD
rs751093810	p.Ala964Glu	missense variant	-	NC_000022.11:g.27797653G>T	ExAC,TOPMed,gnomAD
rs751093810	p.Ala964Val	missense variant	-	NC_000022.11:g.27797653G>A	ExAC,TOPMed,gnomAD
rs1286869831	p.Ala965Thr	missense variant	-	NC_000022.11:g.27797651C>T	TOPMed
rs536374258	p.Pro966Leu	missense variant	-	NC_000022.11:g.27797647G>A	1000Genomes,ExAC,gnomAD
rs536374258	p.Pro966Arg	missense variant	-	NC_000022.11:g.27797647G>C	1000Genomes,ExAC,gnomAD
COSM1165420	p.Pro966Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797648G>A	NCI-TCGA Cosmic
rs1379678156	p.Asp967Asn	missense variant	-	NC_000022.11:g.27797645C>T	gnomAD
rs775180687	p.Ser968Gly	missense variant	-	NC_000022.11:g.27797642T>C	ExAC,gnomAD
rs759936263	p.Gly969Glu	missense variant	-	NC_000022.11:g.27797638C>T	ExAC,gnomAD
rs764848708	p.Gly969Arg	missense variant	-	NC_000022.11:g.27797639C>T	ExAC,TOPMed,gnomAD
rs998544458	p.Gly970Asp	missense variant	-	NC_000022.11:g.27797635C>T	TOPMed,gnomAD
rs771492839	p.Ala971Thr	missense variant	-	NC_000022.11:g.27797633C>T	ExAC,TOPMed,gnomAD
rs1164406783	p.Pro972Ser	missense variant	-	NC_000022.11:g.27797630G>A	gnomAD
rs747420770	p.Pro972Arg	missense variant	-	NC_000022.11:g.27797629G>C	ExAC
rs748228697	p.Gln979Glu	missense variant	-	NC_000022.11:g.27797609G>C	ExAC,gnomAD
rs201376459	p.Ala981Thr	missense variant	-	NC_000022.11:g.27797603C>T	1000Genomes,ExAC,gnomAD
rs201376459	p.Ala981Ser	missense variant	-	NC_000022.11:g.27797603C>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ala981Gly	missense variant	-	NC_000022.11:g.27797602G>C	NCI-TCGA
NCI-TCGA novel	p.Gly983Val	missense variant	-	NC_000022.11:g.27797596C>A	NCI-TCGA
rs1263136065	p.Ala984Thr	missense variant	-	NC_000022.11:g.27797594C>T	TOPMed,gnomAD
rs1263136065	p.Ala984Ser	missense variant	-	NC_000022.11:g.27797594C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala985Thr	missense variant	-	NC_000022.11:g.27797591C>T	NCI-TCGA
rs1293691250	p.Gly987Arg	missense variant	-	NC_000022.11:g.27797585C>T	gnomAD
rs1293691250	p.Gly987Arg	missense variant	-	NC_000022.11:g.27797585C>G	gnomAD
rs1405591173	p.Gly988Glu	missense variant	-	NC_000022.11:g.27797581C>T	TOPMed
rs757223133	p.Ala991Thr	missense variant	-	NC_000022.11:g.27797573C>T	ExAC,TOPMed,gnomAD
rs757223133	p.Ala991Ser	missense variant	-	NC_000022.11:g.27797573C>A	ExAC,TOPMed,gnomAD
rs1278548772	p.Glu993Asp	missense variant	-	NC_000022.11:g.27797565C>G	gnomAD
NCI-TCGA novel	p.Thr994Ala	missense variant	-	NC_000022.11:g.27797564T>C	NCI-TCGA
rs1383826053	p.Arg995Cys	missense variant	-	NC_000022.11:g.27797561G>A	gnomAD
rs764903521	p.Ala997Pro	missense variant	-	NC_000022.11:g.27797555C>G	ExAC,gnomAD
rs764903521	p.Ala997Thr	missense variant	-	NC_000022.11:g.27797555C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro998Leu	missense variant	-	NC_000022.11:g.27797551G>A	NCI-TCGA
NCI-TCGA novel	p.Thr999Lys	missense variant	-	NC_000022.11:g.27797548G>T	NCI-TCGA
COSM3842375	p.Thr999Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797548G>A	NCI-TCGA Cosmic
rs777067619	p.Pro1000Thr	missense variant	-	NC_000022.11:g.27797546G>T	ExAC,gnomAD
rs1167101100	p.His1001Tyr	missense variant	-	NC_000022.11:g.27797543G>A	TOPMed,gnomAD
rs1171082712	p.Ala1004Gly	missense variant	-	NC_000022.11:g.27797533G>C	gnomAD
rs1264686314	p.Leu1005Phe	missense variant	-	NC_000022.11:g.27797531G>A	TOPMed,gnomAD
rs761099998	p.Thr1006Met	missense variant	-	NC_000022.11:g.27797527G>A	ExAC,TOPMed,gnomAD
rs773652210	p.Pro1008Arg	missense variant	-	NC_000022.11:g.27797521G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp1010Cys	missense variant	-	NC_000022.11:g.27797514C>G	NCI-TCGA
NCI-TCGA novel	p.Gly1011Val	missense variant	-	NC_000022.11:g.27797512C>A	NCI-TCGA
rs762012343	p.Lys1012Asn	missense variant	-	NC_000022.11:g.27797508C>G	ExAC,TOPMed,gnomAD
rs774520445	p.Ala1014Ser	missense variant	-	NC_000022.11:g.27797504C>A	ExAC,gnomAD
rs774520445	p.Ala1014Thr	missense variant	-	NC_000022.11:g.27797504C>T	ExAC,gnomAD
rs374548289	p.Glu1015Gln	missense variant	-	NC_000022.11:g.27797501C>G	ESP,ExAC,TOPMed,gnomAD
rs780318940	p.Gly1019Arg	missense variant	-	NC_000022.11:g.27797489C>T	ExAC,TOPMed,gnomAD
rs968161766	p.Asp1020Asn	missense variant	-	NC_000022.11:g.27797486C>T	TOPMed,gnomAD
rs968161766	p.Asp1020His	missense variant	-	NC_000022.11:g.27797486C>G	TOPMed,gnomAD
rs1306465585	p.Gln1021Pro	missense variant	-	NC_000022.11:g.27797482T>G	TOPMed,gnomAD
rs1319032837	p.Asp1023Asn	missense variant	-	NC_000022.11:g.27797477C>T	TOPMed,gnomAD
rs770687348	p.Asp1023Gly	missense variant	-	NC_000022.11:g.27797476T>C	ExAC,gnomAD
rs201955277	p.Ile1025Thr	missense variant	-	NC_000022.11:g.27797470A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1300217156	p.Gly1026Arg	missense variant	-	NC_000022.11:g.27797468C>T	TOPMed,gnomAD
rs1464999399	p.Gly1026Glu	missense variant	-	NC_000022.11:g.27797467C>T	gnomAD
rs1300217156	p.Gly1026Trp	missense variant	-	NC_000022.11:g.27797468C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1027Pro	missense variant	-	NC_000022.11:g.27797465A>G	NCI-TCGA
NCI-TCGA novel	p.Asp1029Val	missense variant	-	NC_000022.11:g.27797458T>A	NCI-TCGA
rs1480513294	p.Gly1030Ser	missense variant	-	NC_000022.11:g.27797456C>T	TOPMed,gnomAD
COSM4103222	p.Gly1030Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797455C>T	NCI-TCGA Cosmic
rs758293540	p.Gly1031Arg	missense variant	-	NC_000022.11:g.27797453C>T	ExAC,gnomAD
rs1441952942	p.Gly1031Val	missense variant	-	NC_000022.11:g.27797452C>A	TOPMed
COSM1033022	p.Lys1033Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797445C>G	NCI-TCGA Cosmic
rs376420334	p.Asp1035Glu	missense variant	-	NC_000022.11:g.27797439G>C	ESP,ExAC,TOPMed,gnomAD
rs745719273	p.SerSer1036SerLysTerUnk	stop gained	-	NC_000022.11:g.27797435_27797438dup	ExAC,gnomAD
rs1255407757	p.Ser1037Arg	missense variant	-	NC_000022.11:g.27797433A>C	TOPMed,gnomAD
rs1210709233	p.Ser1038Leu	missense variant	-	NC_000022.11:g.27797431G>A	gnomAD
rs754634034	p.Pro1039Ser	missense variant	-	NC_000022.11:g.27797429G>A	ExAC,gnomAD
COSM245736	p.Val1041Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797423C>T	NCI-TCGA Cosmic
rs753505376	p.Ala1045Ser	missense variant	-	NC_000022.11:g.27797411C>A	ExAC,TOPMed,gnomAD
rs1401932496	p.Asp1047Asn	missense variant	-	NC_000022.11:g.27797405C>T	gnomAD
rs750757950	p.Asp1047Glu	missense variant	-	NC_000022.11:g.27797403G>C	ExAC,gnomAD
rs760997957	p.Asp1047Gly	missense variant	-	NC_000022.11:g.27797404T>C	ExAC,gnomAD
rs750757950	p.Asp1047Glu	missense variant	-	NC_000022.11:g.27797403G>T	ExAC,gnomAD
rs768157927	p.Glu1048Gln	missense variant	-	NC_000022.11:g.27797402C>G	ExAC,gnomAD
COSM135915	p.Glu1048Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797402C>T	NCI-TCGA Cosmic
rs531873464	p.Val1049Leu	missense variant	-	NC_000022.11:g.27797399C>A	1000Genomes,ExAC,gnomAD
rs1472065809	p.Ser1050Ile	missense variant	-	NC_000022.11:g.27797395C>A	gnomAD
NCI-TCGA novel	p.Ser1050Gly	missense variant	-	NC_000022.11:g.27797396T>C	NCI-TCGA
COSM4921933	p.Ser1050Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797396T>A	NCI-TCGA Cosmic
rs1183529520	p.Thr1051Met	missense variant	-	NC_000022.11:g.27797392G>A	TOPMed,gnomAD
rs774573491	p.Thr1051Ala	missense variant	-	NC_000022.11:g.27797393T>C	ExAC,gnomAD
rs1183529520	p.Thr1051Lys	missense variant	-	NC_000022.11:g.27797392G>T	TOPMed,gnomAD
rs768923539	p.Ser1052Asn	missense variant	-	NC_000022.11:g.27797389C>T	ExAC,gnomAD
rs1255185911	p.Tyr1053Cys	missense variant	-	NC_000022.11:g.27797386T>C	gnomAD
rs561366930	p.Ala1054Ser	missense variant	-	NC_000022.11:g.27797384C>A	1000Genomes,ExAC,gnomAD
rs561366930	p.Ala1054Pro	missense variant	-	NC_000022.11:g.27797384C>G	1000Genomes,ExAC,gnomAD
rs561366930	p.Ala1054Thr	missense variant	-	NC_000022.11:g.27797384C>T	1000Genomes,ExAC,gnomAD
rs746813569	p.Asn1055Ser	missense variant	-	NC_000022.11:g.27797380T>C	ExAC,gnomAD
rs1182958912	p.Glu1056Val	missense variant	-	NC_000022.11:g.27797377T>A	TOPMed
rs1208111987	p.Glu1056Lys	missense variant	-	NC_000022.11:g.27797378C>T	gnomAD
NCI-TCGA novel	p.Glu1058Lys	missense variant	-	NC_000022.11:g.27797372C>T	NCI-TCGA
rs1313829375	p.Ser1063Cys	missense variant	-	NC_000022.11:g.27797356G>C	gnomAD
rs777577575	p.Asp1064Gly	missense variant	-	NC_000022.11:g.27797353T>C	ExAC,gnomAD
rs1363567188	p.Asp1064Glu	missense variant	-	NC_000022.11:g.27797352G>T	gnomAD
rs201578856	p.Pro1066Arg	missense variant	-	NC_000022.11:g.27797347G>C	ExAC,TOPMed,gnomAD
rs201578856	p.Pro1066Leu	missense variant	-	NC_000022.11:g.27797347G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1067ArgPheSerTerUnk	frameshift	-	NC_000022.11:g.27797344T>-	NCI-TCGA
NCI-TCGA novel	p.Val1070Ile	missense variant	-	NC_000022.11:g.27797336C>T	NCI-TCGA
NCI-TCGA novel	p.Lys1071Thr	missense variant	-	NC_000022.11:g.27797332T>G	NCI-TCGA
rs1159987506	p.Ala1072Glu	missense variant	-	NC_000022.11:g.27797329G>T	gnomAD
rs1159987506	p.Ala1072Gly	missense variant	-	NC_000022.11:g.27797329G>C	gnomAD
rs778822088	p.Ala1072Pro	missense variant	-	NC_000022.11:g.27797330C>G	ExAC,TOPMed,gnomAD
rs778822088	p.Ala1072Ser	missense variant	-	NC_000022.11:g.27797330C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1073Asn	missense variant	-	NC_000022.11:g.27797326C>T	NCI-TCGA
rs754544394	p.Pro1076Thr	missense variant	-	NC_000022.11:g.27797318G>T	ExAC,TOPMed,gnomAD
rs754544394	p.Pro1076Ser	missense variant	-	NC_000022.11:g.27797318G>A	ExAC,TOPMed,gnomAD
rs377232565	p.Gly1080Arg	missense variant	-	NC_000022.11:g.27797306C>G	ESP,ExAC,TOPMed,gnomAD
rs377232565	p.Gly1080Ser	missense variant	-	NC_000022.11:g.27797306C>T	ESP,ExAC,TOPMed,gnomAD
rs750764675	p.Gly1080Val	missense variant	-	NC_000022.11:g.27797305C>A	ExAC,gnomAD
rs767922686	p.Ser1081Leu	missense variant	-	NC_000022.11:g.27797302G>A	ExAC,gnomAD
rs757688741	p.Leu1084Arg	missense variant	-	NC_000022.11:g.27797293A>C	ExAC,TOPMed,gnomAD
rs372767958	p.Pro1085Ser	missense variant	-	NC_000022.11:g.27797291G>A	ESP,ExAC,TOPMed,gnomAD
rs1266414680	p.Pro1086Thr	missense variant	-	NC_000022.11:g.27797288G>T	gnomAD
rs762981381	p.Arg1087His	missense variant	-	NC_000022.11:g.27797284C>T	ExAC,TOPMed,gnomAD
rs1248533642	p.Arg1087Cys	missense variant	-	NC_000022.11:g.27797285G>A	gnomAD
rs775600902	p.Gly1088Val	missense variant	-	NC_000022.11:g.27797281C>A	ExAC,gnomAD
rs765402032	p.Val1089Leu	missense variant	-	NC_000022.11:g.27797279C>A	ExAC,gnomAD
rs1326543347	p.Gly1090Ser	missense variant	-	NC_000022.11:g.27797276C>T	gnomAD
rs1338814997	p.Gly1090Val	missense variant	-	NC_000022.11:g.27797275C>A	TOPMed
rs1384731005	p.Ala1091Ser	missense variant	-	NC_000022.11:g.27797273C>A	gnomAD
rs1384731005	p.Ala1091Thr	missense variant	-	NC_000022.11:g.27797273C>T	gnomAD
rs771925230	p.Gly1092Trp	missense variant	-	NC_000022.11:g.27797270C>A	ExAC,gnomAD
rs771925230	p.Gly1092Arg	missense variant	-	NC_000022.11:g.27797270C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu1093AsnPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.27797267C>-	NCI-TCGA
NCI-TCGA novel	p.Glu1093AsnPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.27797271G>-	NCI-TCGA
rs1045841107	p.His1094Gln	missense variant	-	NC_000022.11:g.27797262G>C	TOPMed,gnomAD
rs1426383077	p.His1094Leu	missense variant	-	NC_000022.11:g.27797263T>A	gnomAD
rs1167931662	p.Gly1095Arg	missense variant	-	NC_000022.11:g.27797261C>T	TOPMed,gnomAD
rs200506171	p.Pro1096Leu	missense variant	-	NC_000022.11:g.27797257G>A	1000Genomes,ExAC,gnomAD
rs1451254445	p.Ala1098Thr	missense variant	-	NC_000022.11:g.27797252C>T	gnomAD
COSM4103219	p.Ala1098Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797251G>A	NCI-TCGA Cosmic
rs560561226	p.Pro1099Ser	missense variant	-	NC_000022.11:g.27797249G>A	1000Genomes,ExAC,gnomAD
rs560561226	p.Pro1099Ala	missense variant	-	NC_000022.11:g.27797249G>C	1000Genomes,ExAC,gnomAD
rs779556948	p.Pro1100Leu	missense variant	-	NC_000022.11:g.27797245G>A	ExAC,gnomAD
rs1342016323	p.Pro1101Ser	missense variant	-	NC_000022.11:g.27797243G>A	TOPMed,gnomAD
rs1342016323	p.Pro1101Thr	missense variant	-	NC_000022.11:g.27797243G>T	TOPMed,gnomAD
rs1342016323	p.Pro1101Ala	missense variant	-	NC_000022.11:g.27797243G>C	TOPMed,gnomAD
rs745596738	p.Ala1102Val	missense variant	-	NC_000022.11:g.27797239G>A	ExAC,gnomAD
rs369164450	p.Ala1102Thr	missense variant	-	NC_000022.11:g.27797240C>T	ESP,ExAC,TOPMed,gnomAD
rs1307124885	p.Gly1106Val	missense variant	-	NC_000022.11:g.27797227C>A	gnomAD
rs1307124885	p.Gly1106Ala	missense variant	-	NC_000022.11:g.27797227C>G	gnomAD
rs1410473880	p.Ile1107Val	missense variant	-	NC_000022.11:g.27797225T>C	gnomAD
rs1421482685	p.Met1108Thr	missense variant	-	NC_000022.11:g.27797221A>G	gnomAD
rs1372056090	p.Ser1109Pro	missense variant	-	NC_000022.11:g.27797219A>G	TOPMed
rs757745858	p.Asn1110Asp	missense variant	-	NC_000022.11:g.27797216T>C	ExAC,TOPMed,gnomAD
rs764728321	p.Ser1111Ala	missense variant	-	NC_000022.11:g.27797213A>C	ExAC,gnomAD
COSM3800093	p.Ser1113Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797207A>C	NCI-TCGA Cosmic
COSM579816	p.Ser1113Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797206G>A	NCI-TCGA Cosmic
rs1232796039	p.Thr1114Ala	missense variant	-	NC_000022.11:g.27797204T>C	gnomAD
rs1201910781	p.Thr1114Ile	missense variant	-	NC_000022.11:g.27797203G>A	gnomAD
rs1471709384	p.Pro1115Thr	missense variant	-	NC_000022.11:g.27797201G>T	TOPMed,gnomAD
rs758891220	p.Ser1117Asn	missense variant	-	NC_000022.11:g.27797194C>T	ExAC,gnomAD
rs1277193009	p.Gly1120Ser	missense variant	-	NC_000022.11:g.27797186C>T	gnomAD
rs1200369016	p.Gly1120Asp	missense variant	-	NC_000022.11:g.27797185C>T	gnomAD
rs759531060	p.Gly1123Asp	missense variant	-	NC_000022.11:g.27797176C>T	ExAC,gnomAD
rs759531060	p.Gly1123Val	missense variant	-	NC_000022.11:g.27797176C>A	ExAC,gnomAD
rs776900381	p.Pro1124Leu	missense variant	-	NC_000022.11:g.27797173G>A	ExAC,TOPMed,gnomAD
rs1287491905	p.Gly1125Ser	missense variant	-	NC_000022.11:g.27797171C>T	gnomAD
rs1332168219	p.His1126Arg	missense variant	-	NC_000022.11:g.27797167T>C	gnomAD
rs1356046184	p.His1126Asn	missense variant	-	NC_000022.11:g.27797168G>T	gnomAD
rs1413806935	p.Pro1127Leu	missense variant	-	NC_000022.11:g.27797164G>A	gnomAD
rs1178607263	p.Thr1129Ser	missense variant	-	NC_000022.11:g.27797158G>C	gnomAD
rs1411592863	p.Gly1131Ser	missense variant	-	NC_000022.11:g.27797153C>T	gnomAD
rs1047875157	p.Gly1131Asp	missense variant	-	NC_000022.11:g.27797152C>T	TOPMed,gnomAD
rs929410393	p.Glu1133Lys	missense variant	-	NC_000022.11:g.27797147C>T	TOPMed
rs774095981	p.Arg1136Cys	missense variant	-	NC_000022.11:g.27797138G>A	ExAC,TOPMed,gnomAD
rs1263230031	p.Arg1136Leu	missense variant	-	NC_000022.11:g.27797137C>A	gnomAD
rs768488007	p.Thr1137Ser	missense variant	-	NC_000022.11:g.27797134G>C	ExAC,gnomAD
rs1283185960	p.Pro1138Leu	missense variant	-	NC_000022.11:g.27797131G>A	gnomAD
rs749180276	p.Thr1139Met	missense variant	-	NC_000022.11:g.27797128G>A	ExAC,TOPMed,gnomAD
rs1268602887	p.Ser1140Asn	missense variant	-	NC_000022.11:g.27797125C>T	TOPMed
rs775280777	p.Ser1141Asn	missense variant	-	NC_000022.11:g.27797122C>T	ExAC,TOPMed,gnomAD
rs745348338	p.Ser1142Arg	missense variant	-	NC_000022.11:g.27797118G>C	ExAC,TOPMed,gnomAD
rs781031487	p.Gly1143Arg	missense variant	-	NC_000022.11:g.27797117C>G	ExAC,TOPMed
rs781031487	p.Gly1143Ser	missense variant	-	NC_000022.11:g.27797117C>T	ExAC,TOPMed
rs1455764061	p.Ala1144Thr	missense variant	-	NC_000022.11:g.27797114C>T	gnomAD
rs756929211	p.Ala1144Gly	missense variant	-	NC_000022.11:g.27797113G>C	ExAC,gnomAD
rs758835992	p.Pro1145Arg	missense variant	-	NC_000022.11:g.27797110G>C	ExAC,gnomAD
rs747401031	p.Pro1145Ser	missense variant	-	NC_000022.11:g.27797111G>A	ExAC,TOPMed,gnomAD
rs758835992	p.Pro1145Leu	missense variant	-	NC_000022.11:g.27797110G>A	ExAC,gnomAD
rs779278915	p.Pro1146Ser	missense variant	-	NC_000022.11:g.27797108G>A	ExAC,gnomAD
rs755137457	p.Asp1148Asn	missense variant	-	NC_000022.11:g.27797102C>T	ExAC,gnomAD
rs1240981820	p.Glu1149Asp	missense variant	-	NC_000022.11:g.27797097C>A	gnomAD
rs753888505	p.Glu1149Lys	missense variant	-	NC_000022.11:g.27797099C>T	ExAC,gnomAD
rs1318295194	p.Pro1152Thr	missense variant	-	NC_000022.11:g.27797090G>T	gnomAD
rs1266340952	p.Pro1152Leu	missense variant	-	NC_000022.11:g.27797089G>A	TOPMed
NCI-TCGA novel	p.Pro1152Arg	missense variant	-	NC_000022.11:g.27797089G>C	NCI-TCGA
rs1364790699	p.Leu1153Pro	missense variant	-	NC_000022.11:g.27797086A>G	TOPMed
COSM1415385	p.Leu1153TrpPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27797087G>-	NCI-TCGA Cosmic
rs1432775869	p.Leu1156Pro	missense variant	-	NC_000022.11:g.27797077A>G	gnomAD
rs1361403401	p.Ala1158Val	missense variant	-	NC_000022.11:g.27797071G>A	TOPMed,gnomAD
rs764014470	p.Gln1159Glu	missense variant	-	NC_000022.11:g.27797069G>C	ExAC,gnomAD
rs1348286073	p.Gln1159Leu	missense variant	-	NC_000022.11:g.27797068T>A	gnomAD
rs762639138	p.Leu1162Val	missense variant	-	NC_000022.11:g.27797060G>C	ExAC,TOPMed,gnomAD
rs1387441487	p.Gln1163Ter	stop gained	-	NC_000022.11:g.27797057G>A	gnomAD
NCI-TCGA novel	p.Gln1163His	missense variant	-	NC_000022.11:g.27797055C>G	NCI-TCGA
rs1449351379	p.Gln1166His	missense variant	-	NC_000022.11:g.27797046C>A	gnomAD
rs769585924	p.Ser1168Thr	missense variant	-	NC_000022.11:g.27797041C>G	ExAC,gnomAD
rs1003088874	p.Ile1169Val	missense variant	-	NC_000022.11:g.27797039T>C	TOPMed
rs1343715583	p.Asp1172Asn	missense variant	-	NC_000022.11:g.27797030C>T	TOPMed
COSM6162045	p.Asp1172Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27797030C>A	NCI-TCGA Cosmic
rs776231833	p.Gln1173Arg	missense variant	-	NC_000022.11:g.27797026T>C	ExAC,gnomAD
rs776231833	p.Gln1173Pro	missense variant	-	NC_000022.11:g.27797026T>G	ExAC,gnomAD
rs1221250854	p.Gly1176Arg	missense variant	-	NC_000022.11:g.27797018C>T	gnomAD
rs770721124	p.Gly1176Glu	missense variant	-	NC_000022.11:g.27797017C>T	ExAC,TOPMed,gnomAD
rs777289071	p.Leu1177Arg	missense variant	-	NC_000022.11:g.27797014A>C	ExAC,gnomAD
rs1226122672	p.Leu1177Met	missense variant	-	NC_000022.11:g.27797015G>T	gnomAD
rs772547139	p.Lys1178Asn	missense variant	-	NC_000022.11:g.27797010C>A	ExAC,TOPMed,gnomAD
rs748442678	p.Lys1182Glu	missense variant	-	NC_000022.11:g.27797000T>C	ExAC,TOPMed,gnomAD
rs45589739	p.Glu1184Gln	missense variant	-	NC_000022.11:g.27796994C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1490039052	p.Ala1186Gly	missense variant	-	NC_000022.11:g.27796987G>C	TOPMed
rs753939819	p.Ala1186Pro	missense variant	-	NC_000022.11:g.27796988C>G	ExAC,TOPMed,gnomAD
rs753939819	p.Ala1186Thr	missense variant	-	NC_000022.11:g.27796988C>T	ExAC,TOPMed,gnomAD
rs1461930903	p.Gly1188Arg	missense variant	-	NC_000022.11:g.27796982C>T	gnomAD
rs1355554568	p.Ala1189Val	missense variant	-	NC_000022.11:g.27796978G>A	gnomAD
rs750700213	p.Gly1191Ala	missense variant	-	NC_000022.11:g.27796972C>G	ExAC,gnomAD
rs750700213	p.Gly1191Glu	missense variant	-	NC_000022.11:g.27796972C>T	ExAC,gnomAD
rs1422408785	p.Ala1192Glu	missense variant	-	NC_000022.11:g.27796969G>T	gnomAD
rs762845346	p.Ala1192Ser	missense variant	-	NC_000022.11:g.27796970C>A	ExAC,TOPMed,gnomAD
rs762845346	p.Ala1192Thr	missense variant	-	NC_000022.11:g.27796970C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1193ArgPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.27796968C>-	NCI-TCGA
rs1480534609	p.Asn1194Ser	missense variant	-	NC_000022.11:g.27796963T>C	gnomAD
rs1270798843	p.Gly1195Val	missense variant	-	NC_000022.11:g.27796960C>A	gnomAD
rs759489319	p.Asp1196Glu	missense variant	-	NC_000022.11:g.27796956G>C	ExAC,gnomAD
rs765241173	p.Asp1196His	missense variant	-	NC_000022.11:g.27796958C>G	ExAC,gnomAD
rs776285358	p.Glu1198Gly	missense variant	-	NC_000022.11:g.27796951T>C	ExAC,TOPMed,gnomAD
rs770634832	p.Leu1199Arg	missense variant	-	NC_000022.11:g.27796948A>C	ExAC,TOPMed,gnomAD
rs1282678424	p.Cys1203Tyr	missense variant	-	NC_000022.11:g.27796936C>T	gnomAD
rs1224377473	p.Cys1203Ter	stop gained	-	NC_000022.11:g.27796935G>T	gnomAD
rs760250049	p.Glu1205Lys	missense variant	-	NC_000022.11:g.27796931C>T	ExAC,TOPMed,gnomAD
rs772969426	p.Ala1206Val	missense variant	-	NC_000022.11:g.27796927G>A	ExAC,gnomAD
rs772969426	p.Ala1206Glu	missense variant	-	NC_000022.11:g.27796927G>T	ExAC,gnomAD
rs771594934	p.Val1207Phe	missense variant	-	NC_000022.11:g.27796925C>A	ExAC,gnomAD
rs1403298199	p.Ala1210Thr	missense variant	-	NC_000022.11:g.27796916C>T	gnomAD
rs537367608	p.Met1211Val	missense variant	-	NC_000022.11:g.27796913T>C	1000Genomes,ExAC,gnomAD
COSM3842374	p.Met1211Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27796911C>T	NCI-TCGA Cosmic
COSM3553031	p.Ser1212Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27796909C>T	NCI-TCGA Cosmic
rs1470002941	p.Ile1214Val	missense variant	-	NC_000022.11:g.27796904T>C	gnomAD
rs769153004	p.Ile1214Thr	missense variant	-	NC_000022.11:g.27796903A>G	ExAC,TOPMed,gnomAD
rs1048396618	p.Leu1216Met	missense variant	-	NC_000022.11:g.27796898G>T	TOPMed
rs1418330589	p.Asp1217His	missense variant	-	NC_000022.11:g.27796895C>G	gnomAD
rs1250930278	p.Asp1217Ala	missense variant	-	NC_000022.11:g.27796894T>G	TOPMed,gnomAD
rs1178907184	p.Ser1218Leu	missense variant	-	NC_000022.11:g.27796891G>A	gnomAD
NCI-TCGA novel	p.Ser1218Ala	missense variant	-	NC_000022.11:g.27796892A>C	NCI-TCGA
rs1389471682	p.Ala1221Ser	missense variant	-	NC_000022.11:g.27796883C>A	TOPMed
COSM478838	p.Ala1221Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27796882G>A	NCI-TCGA Cosmic
rs531489963	p.Ser1224Asn	missense variant	-	NC_000022.11:g.27796873C>T	TOPMed
rs531489963	p.Ser1224Ile	missense variant	-	NC_000022.11:g.27796873C>A	TOPMed
rs901928225	p.Ser1224Arg	missense variant	-	NC_000022.11:g.27796872G>C	TOPMed
rs756233312	p.Ser1224Gly	missense variant	-	NC_000022.11:g.27796874T>C	ExAC,gnomAD
rs781506080	p.Ala1225Pro	missense variant	-	NC_000022.11:g.27796871C>G	ExAC,TOPMed,gnomAD
rs781506080	p.Ala1225Ser	missense variant	-	NC_000022.11:g.27796871C>A	ExAC,TOPMed,gnomAD
rs781506080	p.Ala1225Thr	missense variant	-	NC_000022.11:g.27796871C>T	ExAC,TOPMed,gnomAD
rs781506080	p.Ala1225Thr	missense variant	-	NC_000022.11:g.27796871C>T	NCI-TCGA Cosmic
rs558028195	p.Met1229Val	missense variant	-	NC_000022.11:g.27796859T>C	ExAC,TOPMed,gnomAD
rs558028195	p.Met1229Leu	missense variant	-	NC_000022.11:g.27796859T>A	ExAC,TOPMed,gnomAD
rs554595460	p.Ala1231Thr	missense variant	-	NC_000022.11:g.27796853C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1274323843	p.Ala1234Val	missense variant	-	NC_000022.11:g.27796843G>A	TOPMed,gnomAD
rs935251445	p.Val1236Met	missense variant	-	NC_000022.11:g.27796838C>T	TOPMed,gnomAD
rs935251445	p.Val1236Leu	missense variant	-	NC_000022.11:g.27796838C>G	TOPMed,gnomAD
rs1216829399	p.Ala1239Gly	missense variant	-	NC_000022.11:g.27796828G>C	TOPMed,gnomAD
rs1216829399	p.Ala1239Val	missense variant	-	NC_000022.11:g.27796828G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala1239Thr	missense variant	-	NC_000022.11:g.27796829C>T	NCI-TCGA
rs766399231	p.Asp1240Glu	missense variant	-	NC_000022.11:g.27796824G>C	ExAC,gnomAD
rs760305140	p.Asp1241Asn	missense variant	-	NC_000022.11:g.27796823C>T	ExAC,gnomAD
rs1156484834	p.Asp1242Asn	missense variant	-	NC_000022.11:g.27796820C>T	NCI-TCGA Cosmic
rs1156484834	p.Asp1242Asn	missense variant	-	NC_000022.11:g.27796820C>T	gnomAD
rs1160944052	p.Thr1244Met	missense variant	-	NC_000022.11:g.27796813G>A	NCI-TCGA
rs1364185392	p.Thr1244Ser	missense variant	-	NC_000022.11:g.27796814T>A	gnomAD
rs1160944052	p.Thr1244Lys	missense variant	-	NC_000022.11:g.27796813G>T	gnomAD
rs1160944052	p.Thr1244Met	missense variant	-	NC_000022.11:g.27796813G>A	gnomAD
rs772560420	p.Ala1246Val	missense variant	-	NC_000022.11:g.27796807G>A	ExAC,gnomAD
rs1246225634	p.Pro1247Ala	missense variant	-	NC_000022.11:g.27796805G>C	TOPMed,gnomAD
COSM726034	p.Pro1247Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27796804G>A	NCI-TCGA Cosmic
rs1297805962	p.Trp1248Cys	missense variant	-	NC_000022.11:g.27796800C>G	TOPMed
rs761317200	p.Glu1249Lys	missense variant	-	NC_000022.11:g.27796799C>T	ExAC,TOPMed,gnomAD
rs761317200	p.Glu1249Lys	missense variant	-	NC_000022.11:g.27796799C>T	NCI-TCGA
rs769063080	p.Lys1250Arg	missense variant	-	NC_000022.11:g.27796795T>C	ExAC,TOPMed,gnomAD
rs979359888	p.Ala1251Thr	missense variant	-	NC_000022.11:g.27796793C>T	gnomAD
rs1316408091	p.Pro1253His	missense variant	-	NC_000022.11:g.27796786G>T	gnomAD
rs749628293	p.Pro1253Thr	missense variant	-	NC_000022.11:g.27796787G>T	ExAC,gnomAD
rs776013560	p.Ser1258Arg	missense variant	-	NC_000022.11:g.27796770G>C	ExAC,gnomAD
COSM6004984	p.Ser1258Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27796771C>T	NCI-TCGA Cosmic
rs372548989	p.Glu1260Gly	missense variant	-	NC_000022.11:g.27796765T>C	ESP,ExAC,TOPMed,gnomAD
rs751180626	p.His1262Arg	missense variant	-	NC_000022.11:g.27751093T>C	ExAC,TOPMed,gnomAD
rs759932752	p.Asp1263Gly	missense variant	-	NC_000022.11:g.27751090T>C	ExAC,gnomAD
rs765586902	p.Asp1263Asn	missense variant	-	NC_000022.11:g.27751091C>T	ExAC,gnomAD
rs777054473	p.Leu1264Arg	missense variant	-	NC_000022.11:g.27751087A>C	ExAC,gnomAD
rs1037763694	p.Pro1265Leu	missense variant	-	NC_000022.11:g.27751084G>A	TOPMed
COSM1033019	p.Pro1265His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27751084G>T	NCI-TCGA Cosmic
rs771439976	p.Ala1266Val	missense variant	-	NC_000022.11:g.27751081G>A	ExAC,gnomAD
rs1410421473	p.Lys1268Gln	missense variant	-	NC_000022.11:g.27751076T>G	gnomAD
rs1398750225	p.Lys1268Asn	missense variant	-	NC_000022.11:g.27751074C>G	gnomAD
rs760703202	p.Ala1271Thr	missense variant	-	NC_000022.11:g.27751067C>T	ExAC,TOPMed,gnomAD
rs760703202	p.Ala1271Thr	missense variant	-	NC_000022.11:g.27751067C>T	NCI-TCGA
rs772440856	p.Gly1275Ser	missense variant	-	NC_000022.11:g.27751055C>T	ExAC,gnomAD
rs748318663	p.Ser1276Asn	missense variant	-	NC_000022.11:g.27751051C>T	ExAC,TOPMed,gnomAD
rs1232626097	p.His1277Tyr	missense variant	-	NC_000022.11:g.27751049G>A	gnomAD
rs1400633556	p.Cys1280Tyr	missense variant	-	NC_000022.11:g.27751039C>T	TOPMed
COSM4830220	p.Leu1281Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27751037G>C	NCI-TCGA Cosmic
rs745641592	p.Asp1287Glu	missense variant	-	NC_000022.11:g.27751017G>T	ExAC,TOPMed,gnomAD
rs757168083	p.Asp1288Glu	missense variant	-	NC_000022.11:g.27751014G>C	ExAC,TOPMed,gnomAD
rs1263430260	p.Asp1288Gly	missense variant	-	NC_000022.11:g.27751015T>C	gnomAD
rs370142548	p.Asp1288Asn	missense variant	-	NC_000022.11:g.27751016C>T	NCI-TCGA
rs757168083	p.Asp1288Glu	missense variant	-	NC_000022.11:g.27751014G>T	ExAC,TOPMed,gnomAD
rs370142548	p.Asp1288Asn	missense variant	-	NC_000022.11:g.27751016C>T	ESP,ExAC,TOPMed,gnomAD
rs751081286	p.Val1289Met	missense variant	-	NC_000022.11:g.27751013C>T	ExAC,TOPMed,gnomAD
rs942348707	p.Asp1291Gly	missense variant	-	NC_000022.11:g.27751006T>C	TOPMed
rs757899030	p.Ala1292Ser	missense variant	-	NC_000022.11:g.27751004C>A	ExAC,TOPMed,gnomAD
rs757899030	p.Ala1292Thr	missense variant	-	NC_000022.11:g.27751004C>T	ExAC,TOPMed,gnomAD
rs757899030	p.Ala1292Thr	missense variant	-	NC_000022.11:g.27751004C>T	NCI-TCGA
rs1334599737	p.Ala1294Pro	missense variant	-	NC_000022.11:g.27750998C>G	gnomAD
rs1334599737	p.Ala1294Ser	missense variant	-	NC_000022.11:g.27750998C>A	gnomAD
rs764921542	p.Arg1295Gln	missense variant	-	NC_000022.11:g.27750994C>T	ExAC,TOPMed,gnomAD
rs764921542	p.Arg1295Leu	missense variant	-	NC_000022.11:g.27750994C>A	ExAC,TOPMed,gnomAD
rs147334255	p.Arg1295Ter	stop gained	-	NC_000022.11:g.27750995G>A	-
NCI-TCGA novel	p.Arg1295AspPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.27750995_27750996insTC	NCI-TCGA
rs147334255	p.Arg1295Ter	stop gained	-	NC_000022.11:g.27750995G>A	NCI-TCGA,NCI-TCGA Cosmic
RCV000190793	p.Arg1295Ter	nonsense	Inborn genetic diseases	NC_000022.11:g.27750995G>A	ClinVar
rs759860030	p.Val1298Met	missense variant	-	NC_000022.11:g.27750986C>T	ExAC,TOPMed,gnomAD
rs754192681	p.Pro1299Arg	missense variant	-	NC_000022.11:g.27750982G>C	ExAC,gnomAD
rs1376477525	p.Pro1299Ser	missense variant	-	NC_000022.11:g.27750983G>A	TOPMed
rs912955289	p.Thr1300Ser	missense variant	-	NC_000022.11:g.27750980T>A	TOPMed
COSM4385218	p.Trp1301Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.27750975C>T	NCI-TCGA Cosmic
rs773433007	p.Arg1302Trp	missense variant	-	NC_000022.11:g.27750974G>A	ExAC,TOPMed,gnomAD
rs1211821891	p.His1305Arg	missense variant	-	NC_000022.11:g.27750964T>C	gnomAD
rs1444862127	p.Ser1306Phe	missense variant	-	NC_000022.11:g.27750961G>A	gnomAD
NCI-TCGA novel	p.Ser1306Cys	missense variant	-	NC_000022.11:g.27750961G>C	NCI-TCGA
rs568489325	p.Asp1307Asn	missense variant	-	NC_000022.11:g.27750959C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs568489325	p.Asp1307Asn	missense variant	-	NC_000022.11:g.27750959C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM4844933	p.Ile1308Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.27750954G>C	NCI-TCGA Cosmic
rs768879856	p.Ser1309Thr	missense variant	-	NC_000022.11:g.27750953A>T	ExAC,gnomAD
rs867798991	p.Arg1311Lys	missense variant	-	NC_000022.11:g.27750946C>T	-
rs867798991	p.Arg1311Lys	missense variant	-	NC_000022.11:g.27750946C>T	NCI-TCGA
rs1391662942	p.Phe1312Leu	missense variant	-	NC_000022.11:g.27750944A>G	TOPMed
rs1245117003	p.Thr1314Lys	missense variant	-	NC_000022.11:g.27750937G>T	gnomAD
rs776427712	p.Thr1314Ala	missense variant	-	NC_000022.11:g.27750938T>C	ExAC,gnomAD
rs747015092	p.Val1316Met	missense variant	-	NC_000022.11:g.27750932C>T	ExAC,gnomAD
rs747015092	p.Val1316Leu	missense variant	-	NC_000022.11:g.27750932C>G	ExAC,gnomAD
rs1344901102	p.Thr1320Ile	missense variant	-	NC_000022.11:g.27750919G>A	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0008626	Congenital chromosomal disease	group	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0016529	Forced expiratory volume function	phenotype	GWASCAT
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE;CTD_human;LHGDN
C0023470	Myeloid Leukemia	disease	LHGDN
C0025286	Meningioma	disease	HPO
C0026998	Acute Myeloid Leukemia, M1	disease	CTD_human
C0027022	Myeloproliferative disease	group	BEFREE
C0027832	Neurofibromatosis 2	disease	BEFREE
C0032181	Platelet Count measurement	phenotype	GWASCAT
C0205834	Meningiomas, Multiple	disease	ORPHANET
C0259785	Malignant Meningioma	disease	BEFREE
C0369183	Erythrocyte Mean Corpuscular Hemoglobin Test	phenotype	GWASCAT
C0432482	Fragile X chromosome	disease	BEFREE
C0474566	Platelet hematocrit measurement	phenotype	GWASCAT
C0524587	Mean Corpuscular Volume (result)	phenotype	GWASCAT
C0678222	Breast Carcinoma	disease	GWASCAT
C1261502	Finding of Mean Corpuscular Hemoglobin	phenotype	GWASCAT
C1333989	Familial meningioma	disease	CTD_human
C1821417	RESTING HEART RATE	phenotype	GWASCAT
C1837218	Cleft palate, isolated	disease	BEFREE
C1879321	Acute Myeloid Leukemia (AML-M2)	disease	CTD_human
C2981150	Uranostaphyloschisis	disease	BEFREE
C3839868	Cytogenetically normal acute myeloid leukemia	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003674	molecular_function	ND

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001957	intramembranous ossification	IEA
GO:0006355	regulation of transcription, DNA-templated	IEA
GO:0007275	multicellular organism development	IEA
GO:0008150	biological_process	ND

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005575	cellular_component	ND

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C511295	2,2',4,4'-tetrabromodiphenyl ether	2,2',4,4'-tetrabromodiphenyl ether results in decreased expression of MN1 mRNA	27291303
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MN1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MN1 mRNA	27188386
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in decreased expression of MN1 mRNA	22485181
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of MN1 mRNA	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of MN1 intron	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased expression of MN1 mRNA	19770486
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in decreased expression of MN1 mRNA	21298039
D000661	Amphetamine	Amphetamine results in decreased expression of MN1 mRNA	30779732
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in decreased expression of MN1 mRNA	26680231
D001280	Atrazine	Atrazine affects the methylation of MN1 gene	28931070
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of MN1 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of MN1 mRNA	20106945
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MN1 mRNA	19770486
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MN1 mRNA	21839799
C026487	benzo(e)pyrene	benzo(e)pyrene results in decreased methylation of MN1 intron	30157460
C006780	bisphenol A	bisphenol A results in decreased expression of MN1 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of MN1 mRNA	30816183
D002117	Calcitriol	Calcitriol results in increased expression of MN1 mRNA	15890672; 16002434;
D002117	Calcitriol	Dactinomycin inhibits the reaction [Calcitriol results in increased expression of MN1 mRNA]	15890672
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of MN1 mRNA	17484886
D002737	Chloroprene	Chloroprene results in increased expression of MN1 mRNA	23125180
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of MN1 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of MN1 mRNA	27392435
D016572	Cyclosporine	Cyclosporine results in decreased expression of MN1 mRNA	27989131
D003609	Dactinomycin	Dactinomycin inhibits the reaction [Calcitriol results in increased expression of MN1 mRNA]	15890672
D000077209	Decitabine	Decitabine results in decreased expression of MN1 mRNA	27915011
D003976	Diazinon	Diazinon results in increased methylation of MN1 gene	22964155
D004041	Dietary Fats	Dietary Fats results in decreased expression of MN1 mRNA	30120929
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of MN1 mRNA	24535843
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MN1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MN1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of MN1 mRNA	29803840
D013759	Dronabinol	Dronabinol affects the methylation of MN1 gene	26044905
D004726	Endosulfan	Endosulfan results in decreased expression of MN1 mRNA	29391264
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of MN1 mRNA	30165855
D000431	Ethanol	Ethanol affects the expression of and affects the splicing of MN1 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in decreased expression of MN1 mRNA	23129252
C545733	fatostatin	fatostatin results in decreased expression of MN1 mRNA	19716478
D004397	Fonofos	Fonofos results in increased methylation of MN1 promoter	22847954
D005557	Formaldehyde	Formaldehyde results in decreased expression of MN1 mRNA	20655997
D006534	Heptachlor Epoxide	Heptachlor Epoxide results in decreased expression of MN1 mRNA	25270620
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of MN1 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of MN1 mRNA	24796395
D008694	Methamphetamine	[Methamphetamine co-treated with SCH 23390] results in decreased expression of MN1 mRNA	19564919
D008694	Methamphetamine	Methamphetamine results in decreased expression of MN1 mRNA	19564919
D008701	Methapyrilene	Methapyrilene results in decreased methylation of MN1 intron	30157460
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of MN1 mRNA	23179753; 26272509;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of MN1 mRNA	27188386
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of MN1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of MN1 mRNA	25554681; 25620056;
D010100	Oxygen	Oxygen deficiency results in increased expression of MN1 mRNA	26516004
D010278	Parathion	Parathion results in increased methylation of MN1 promoter	22847954
D052638	Particulate Matter	Particulate Matter results in increased expression of MN1 mRNA	22178795
C568608	PCI 5002	[PCI 5002 co-treated with Zinc] results in increased expression of MN1 mRNA	18593933
D010416	Pentachlorophenol	Pentachlorophenol results in decreased expression of MN1 mRNA	23892564
D010634	Phenobarbital	[Diethylnitrosamine co-treated with Phenobarbital] results in decreased expression of MN1 mRNA	24535843
D010634	Phenobarbital	NR1I3 protein affects the reaction [Phenobarbital results in decreased expression of MN1 mRNA]	19482888
D010634	Phenobarbital	Phenobarbital affects the expression of MN1 mRNA	23091169
D010634	Phenobarbital	Phenobarbital results in decreased expression of MN1 mRNA	19482888
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of MN1 mRNA	19710929
D011794	Quercetin	Quercetin results in increased expression of MN1 mRNA	21632981
D020849	Raloxifene Hydrochloride	[Raloxifene Hydrochloride co-treated with ESR2 protein] results in decreased expression of MN1 mRNA	19059307
C534628	SCH 23390	[Methamphetamine co-treated with SCH 23390] results in decreased expression of MN1 mRNA	19564919
C078903	seocalcitol	seocalcitol results in increased expression of MN1 mRNA	12040012
D012822	Silicon Dioxide	Silicon Dioxide analog results in increased expression of MN1 mRNA	25895662
D012834	Silver	Silver results in decreased expression of MN1 mRNA	27131904
C009277	sodium arsenate	sodium arsenate results in decreased expression of MN1 mRNA	21795629
D000077210	Sunitinib	Sunitinib results in increased expression of MN1 mRNA	31533062
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of MN1 mRNA	31299295
D013629	Tamoxifen	[Tamoxifen co-treated with ESR2 protein] results in decreased expression of MN1 mRNA	19059307
D013629	Tamoxifen	Tamoxifen results in increased expression of MN1 mRNA	25123088
C012568	terbufos	terbufos results in increased methylation of MN1 promoter	22847954
D013739	Testosterone	Testosterone results in decreased expression of MN1 mRNA	20403060
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of MN1 mRNA	19465110
D014212	Tretinoin	Tretinoin results in decreased expression of MN1 mRNA	21934132
C012589	trichostatin A	trichostatin A results in increased expression of MN1 mRNA	24935251
D014260	Triclosan	Triclosan results in increased expression of MN1 mRNA	30510588
D000077288	Troglitazone	Troglitazone results in increased expression of MN1 mRNA	19140230
D000077288	Troglitazone	Troglitazone results in decreased expression of MN1 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 increased expression of MN1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of MN1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased expression of MN1 mRNA	28001369
D014635	Valproic Acid	Valproic Acid results in increased expression of MN1 mRNA	23179753; 24935251; 26272509;
D000068756	Valsartan	Valsartan inhibits the reaction [AGT protein results in decreased expression of MN1 mRNA]	19225232
C029297	vinylidene chloride	vinylidene chloride results in decreased expression of MN1 mRNA	26682919
D000077337	Vorinostat	Vorinostat results in decreased expression of MN1 mRNA	27188386
D015032	Zinc	[PCI 5002 co-treated with Zinc] results in increased expression of MN1 mRNA	18593933

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0010	Activator
KW-0160	Chromosomal rearrangement
KW-0217	Developmental protein
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0804	Transcription
KW-0805	Transcription regulation
KW-0043	Tumor suppressor

Interpro

InterPro ID	InterPro Term
IPR037644	MN1

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term

Gene: MN1

Basic information

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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