CleftGeneDB-Search

Gene: ACAN

Basic information

Tag	Content
Uniprot ID	P16112; B9EK55; E7ENV9; E7EX88; H0YM81; Q13650; Q9UCD3; Q9UCP4; Q9UCP5; Q9UDE0;
Entrez ID	176
Genbank protein ID	AAA62824.1; AAA35726.1; CAA35463.1; AAC60643.2; AAI50625.1;
Genbank nucleotide ID	NM_013227.3; XM_011521314.1; NM_001135.3;
Ensembl protein ID	ENSP00000453499; ENSP00000387356; ENSP00000341615;
Ensembl nucleotide ID	ENSG00000157766
Gene name	Aggrecan core protein
Gene symbol	ACAN
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	This proteoglycan is a major component of extracellular matrix of cartilagenous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region.
Sequence	MTTLLWVFVT LRVITAAVTV ETSDHDNSLS VSIPQPSPLR VLLGTSLTIP CYFIDPMHPV 60 TTAPSTAPLA PRIKWSRVSK EKEVVLLVAT EGRVRVNSAY QDKVSLPNYP AIPSDATLEV 120 QSLRSNDSGV YRCEVMHGIE DSEATLEVVV KGIVFHYRAI STRYTLDFDR AQRACLQNSA 180 IIATPEQLQA AYEDGFHQCD AGWLADQTVR YPIHTPREGC YGDKDEFPGV RTYGIRDTNE 240 TYDVYCFAEE MEGEVFYATS PEKFTFQEAA NECRRLGARL ATTGQLYLAW QAGMDMCSAG 300 WLADRSVRYP ISKARPNCGG NLLGVRTVYV HANQTGYPDP SSRYDAICYT GEDFVDIPEN 360 FFGVGGEEDI TVQTVTWPDM ELPLPRNITE GEARGSVILT VKPIFEVSPS PLEPEEPFTF 420 APEIGATAFA EVENETGEAT RPWGFPTPGL GPATAFTSED LVVQVTAVPG QPHLPGGVVF 480 HYRPGPTRYS LTFEEAQQAC LRTGAVIASP EQLQAAYEAG YEQCDAGWLR DQTVRYPIVS 540 PRTPCVGDKD SSPGVRTYGV RPSTETYDVY CFVDRLEGEV FFATRLEQFT FQEALEFCES 600 HNATLATTGQ LYAAWSRGLD KCYAGWLADG SLRYPIVTPR PACGGDKPGV RTVYLYPNQT 660 GLPDPLSRHH AFCFRGISAV PSPGEEEGGT PTSPSGVEEW IVTQVVPGVA AVPVEEETTA 720 VPSGETTAIL EFTTEPENQT EWEPAYTPVG TSPLPGILPT WPPTGAATEE STEGPSATEV 780 PSASEEPSPS EVPFPSEEPS PSEEPFPSVR PFPSVELFPS EEPFPSKEPS PSEEPSASEE 840 PYTPSPPVPS WTELPSSGEE SGAPDVSGDF TGSGDVSGHL DFSGQLSGDR ASGLPSGDLD 900 SSGLTSTVGS GLPVESGLPS GDEERIEWPS TPTVGELPSG AEILEGSASG VGDLSGLPSG 960 EVLETSASGV GDLSGLPSGE VLETTAPGVE DISGLPSGEV LETTAPGVED ISGLPSGEVL 1020 ETTAPGVEDI SGLPSGEVLE TTAPGVEDIS GLPSGEVLET TAPGVEDISG LPSGEVLETT 1080 APGVEDISGL PSGEVLETAA PGVEDISGLP SGEVLETAAP GVEDISGLPS GEVLETAAPG 1140 VEDISGLPSG EVLETAAPGV EDISGLPSGE VLETAAPGVE DISGLPSGEV LETAAPGVED 1200 ISGLPSGEVL ETAAPGVEDI SGLPSGEVLE TAAPGVEDIS GLPSGEVLET AAPGVEDISG 1260 LPSGEVLETA APGVEDISGL PSGEVLETAA PGVEDISGLP SGEVLETAAP GVEDISGLPS 1320 GEVLETAAPG VEDISGLPSG EVLETAAPGV EDISGLPSGE VLETAAPGVE DISGLPSGEV 1380 LETAAPGVED ISGLPSGEVL ETTAPGVEEI SGLPSGEVLE TTAPGVDEIS GLPSGEVLET 1440 TAPGVEEISG LPSGEVLETS TSAVGDLSGL PSGGEVLEIS VSGVEDISGL PSGEVVETSA 1500 SGIEDVSELP SGEGLETSAS GVEDLSRLPS GEEVLEISAS GFGDLSGLPS GGEGLETSAS 1560 EVGTDLSGLP SGREGLETSA SGAEDLSGLP SGKEDLVGSA SGDLDLGKLP SGTLGSGQAP 1620 ETSGLPSGFS GEYSGVDLGS GPPSGLPDFS GLPSGFPTVS LVDSTLVEVV TASTASELEG 1680 RGTIGISGAG EISGLPSSEL DISGRASGLP SGTELSGQAS GSPDVSGEIP GLFGVSGQPS 1740 GFPDTSGETS GVTELSGLSS GQPGISGEAS GVLYGTSQPF GITDLSGETS GVPDLSGQPS 1800 GLPGFSGATS GVPDLVSGTT SGSGESSGIT FVDTSLVEVA PTTFKEEEGL GSVELSGLPS 1860 GEADLSGKSG MVDVSGQFSG TVDSSGFTSQ TPEFSGLPSG IAEVSGESSR AEIGSSLPSG 1920 AYYGSGTPSS FPTVSLVDRT LVESVTQAPT AQEAGEGPSG ILELSGAHSG APDMSGEHSG 1980 FLDLSGLQSG LIEPSGEPPG TPYFSGDFAS TTNVSGESSV AMGTSGEASG LPEVTLITSE 2040 FVEGVTEPTI SQELGQRPPV THTPQLFESS GKVSTAGDIS GATPVLPGSG VEVSSVPESS 2100 SETSAYPEAG FGASAAPEAS REDSGSPDLS ETTSAFHEAN LERSSGLGVS GSTLTFQEGE 2160 ASAAPEVSGE STTTSDVGTE APGLPSATPT ASGDRTEISG DLSGHTSQLG VVISTSIPES 2220 EWTQQTQRPA ETHLEIESSS LLYSGEETHT VETATSPTDA SIPASPEWKR ESESTAAAPA 2280 RSCAEEPCGA GTCKETEGHV ICLCPPGYTG EHCNIDQEVC EEGWNKYQGH CYRHFPDRET 2340 WVDAERRCRE QQSHLSSIVT PEEQEFVNNN AQDYQWIGLN DRTIEGDFRW SDGHPMQFEN 2400 WRPNQPDNFF AAGEDCVVMI WHEKGEWNDV PCNYHLPFTC KKGTVACGEP PVVEHARTFG 2460 QKKDRYEINS LVRYQCTEGF VQRHMPTIRC QPSGHWEEPQ ITCTDPTTYK RRLQKRSSRH 2520 PRRSRPSTAH

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	ACAN		F1N368		Bos taurus	Prediction	More>>
1:1 ortholog	ACAN	403828	A0A5F4DFW2		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	ACAN		A0A452FGP3		Capra hircus	Prediction	More>>
1:1 ortholog	ACAN	176	P16112		Homo sapiens	Prediction	More>>
1:1 ortholog	Acan	11595	Q61282	CPO	Mus musculus	Publication	More>>
1:1 ortholog	ACAN		A0A2I3SPH2		Pan troglodytes	Prediction	More>>
1:1 ortholog	ACAN		A0A287BRK5		Sus scrofa	Prediction	More>>
1:1 ortholog	ACAN	100009079	G1U677		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Acan		D4A7Y1		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
RCV000419116	p.Met1Ile	missense variant	-	NC_000015.10:g.88836209G>A	ClinVar
rs770071622	p.Thr2Ile	missense variant	-	NC_000015.10:g.88836211C>T	ExAC,TOPMed,gnomAD
rs202166561	p.Leu4Ser	missense variant	-	NC_000015.10:g.88836217T>C	ESP,ExAC,TOPMed,gnomAD
rs371249232	p.Leu5Phe	missense variant	-	NC_000015.10:g.88836219C>T	ESP,ExAC,TOPMed,gnomAD
rs1363665841	p.Leu5Pro	missense variant	-	NC_000015.10:g.88836220T>C	TOPMed
rs1300824260	p.Trp6Arg	missense variant	-	NC_000015.10:g.88836222T>C	TOPMed
rs1447022229	p.Trp6Ter	stop gained	-	NC_000015.10:g.88836223G>A	TOPMed
rs776631256	p.Val9Met	missense variant	-	NC_000015.10:g.88836231G>A	ExAC,TOPMed,gnomAD
rs1422976124	p.Thr10Ser	missense variant	-	NC_000015.10:g.88836235C>G	TOPMed
NCI-TCGA novel	p.Arg12Lys	missense variant	-	NC_000015.10:g.88836241G>A	NCI-TCGA
rs1325083323	p.Ala16Val	missense variant	-	NC_000015.10:g.88836253C>T	gnomAD
rs761719517	p.Ala17Val	missense variant	-	NC_000015.10:g.88836256C>T	TOPMed
rs766063753	p.Ala17Ser	missense variant	-	NC_000015.10:g.88836255G>T	ExAC,gnomAD
rs754672128	p.Glu21Gln	missense variant	-	NC_000015.10:g.88836267G>C	ExAC,gnomAD
rs571206900	p.Asp24Glu	missense variant	-	NC_000015.10:g.88838664C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1198280822	p.His25Asn	missense variant	-	NC_000015.10:g.88838665C>A	gnomAD
rs1250848987	p.Asp26Glu	missense variant	-	NC_000015.10:g.88838670C>A	gnomAD
rs1329297647	p.Asn27Asp	missense variant	-	NC_000015.10:g.88838671A>G	TOPMed
rs752419278	p.Asn27Ser	missense variant	-	NC_000015.10:g.88838672A>G	ExAC,TOPMed,gnomAD
rs148320028	p.Ser28Trp	missense variant	-	NC_000015.10:g.88838675C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs751144925	p.Ser30Arg	missense variant	-	NC_000015.10:g.88838682T>G	ExAC,gnomAD
rs1324649266	p.Ser30Asn	missense variant	-	NC_000015.10:g.88838681G>A	TOPMed
NCI-TCGA novel	p.Ser30Thr	missense variant	-	NC_000015.10:g.88838681G>C	NCI-TCGA
rs1041254006	p.Val31Ile	missense variant	-	NC_000015.10:g.88838683G>A	TOPMed
rs757687541	p.Ile33Met	missense variant	-	NC_000015.10:g.88838691C>G	ExAC,gnomAD
rs550784997	p.Pro34Thr	missense variant	-	NC_000015.10:g.88838692C>A	1000Genomes,ExAC,gnomAD
rs550784997	p.Pro34Ser	missense variant	-	NC_000015.10:g.88838692C>T	1000Genomes,ExAC,gnomAD
rs746169178	p.Gln35Leu	missense variant	-	NC_000015.10:g.88838696A>T	ExAC
NCI-TCGA novel	p.Gln35AsnPheSerTerUnk	frameshift	-	NC_000015.10:g.88838691C>-	NCI-TCGA
rs770179538	p.Pro36Ser	missense variant	-	NC_000015.10:g.88838698C>T	ExAC,gnomAD
rs1374390440	p.Pro36Leu	missense variant	-	NC_000015.10:g.88838699C>T	TOPMed,gnomAD
rs536525136	p.Ser37Pro	missense variant	-	NC_000015.10:g.88838701T>C	1000Genomes,ExAC,gnomAD
rs548534627	p.Pro38Leu	missense variant	-	NC_000015.10:g.88838705C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs374081272	p.Arg40Ser	missense variant	-	NC_000015.10:g.88838712G>T	TOPMed,gnomAD
rs748319031	p.Arg40Lys	missense variant	-	NC_000015.10:g.88838711G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val41Ile	missense variant	-	NC_000015.10:g.88838713G>A	NCI-TCGA
rs1269536364	p.Leu43Val	missense variant	-	NC_000015.10:g.88838719C>G	TOPMed
COSM3887700	p.Gly44Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838722G>A	NCI-TCGA Cosmic
rs759354442	p.Thr45Asn	missense variant	-	NC_000015.10:g.88838726C>A	ExAC,TOPMed,gnomAD
COSM3887702	p.Ser46Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838729C>T	NCI-TCGA Cosmic
rs775463088	p.Leu47Phe	missense variant	-	NC_000015.10:g.88838731C>T	ExAC,TOPMed,gnomAD
rs1279018978	p.Thr48Ile	missense variant	-	NC_000015.10:g.88838735C>T	TOPMed
rs1279018978	p.Thr48Ile	missense variant	-	NC_000015.10:g.88838735C>T	NCI-TCGA
rs1249230063	p.Ile49Met	missense variant	-	NC_000015.10:g.88838739C>G	gnomAD
NCI-TCGA novel	p.Pro50Ser	missense variant	-	NC_000015.10:g.88838740C>T	NCI-TCGA
NCI-TCGA novel	p.Cys51Tyr	missense variant	-	NC_000015.10:g.88838744G>A	NCI-TCGA
rs1220719528	p.Ile54Val	missense variant	-	NC_000015.10:g.88838752A>G	TOPMed
rs370110892	p.Asp55Gly	missense variant	-	NC_000015.10:g.88838756A>G	ESP,ExAC,TOPMed,gnomAD
rs763861381	p.Asp55Tyr	missense variant	-	NC_000015.10:g.88838755G>T	ExAC,TOPMed,gnomAD
rs763861381	p.Asp55Asn	missense variant	-	NC_000015.10:g.88838755G>A	ExAC,TOPMed,gnomAD
rs998783686	p.Met57Thr	missense variant	-	NC_000015.10:g.88838762T>C	TOPMed
rs750953875	p.Met57Ile	missense variant	-	NC_000015.10:g.88838763G>A	ExAC,TOPMed,gnomAD
rs1159549993	p.Met57Val	missense variant	-	NC_000015.10:g.88838761A>G	TOPMed,gnomAD
NCI-TCGA novel	p.His58Gln	missense variant	-	NC_000015.10:g.88838766C>A	NCI-TCGA
rs1463725285	p.His58Pro	missense variant	-	NC_000015.10:g.88838765A>C	gnomAD
COSM3505077	p.Pro59Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838767C>T	NCI-TCGA Cosmic
rs1296607237	p.Pro59Arg	missense variant	-	NC_000015.10:g.88838768C>G	gnomAD
rs200239326	p.Thr62Asn	missense variant	-	NC_000015.10:g.88838777C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000294749	p.Thr62Asn	missense variant	-	NC_000015.10:g.88838777C>A	ClinVar
rs749720584	p.Ala63Thr	missense variant	-	NC_000015.10:g.88838779G>A	ExAC,gnomAD
rs1245147885	p.Ala63Gly	missense variant	-	NC_000015.10:g.88838780C>G	gnomAD
rs1178817726	p.Pro64Ser	missense variant	-	NC_000015.10:g.88838782C>T	gnomAD
rs1296036330	p.Pro64Leu	missense variant	-	NC_000015.10:g.88838783C>T	gnomAD
rs1169765470	p.Ser65Pro	missense variant	-	NC_000015.10:g.88838785T>C	TOPMed
rs755142678	p.Ser65Tyr	missense variant	-	NC_000015.10:g.88838786C>A	ExAC,gnomAD
rs755142678	p.Ser65Tyr	missense variant	-	NC_000015.10:g.88838786C>A	NCI-TCGA,NCI-TCGA Cosmic
rs748136311	p.Thr66Ile	missense variant	-	NC_000015.10:g.88838789C>T	ExAC,gnomAD
rs969717268	p.Ala67Val	missense variant	-	NC_000015.10:g.88838792C>T	TOPMed
RCV000521389	p.Ala67Thr	missense variant	-	NC_000015.10:g.88838791G>A	ClinVar
rs969717268	p.Ala67Gly	missense variant	-	NC_000015.10:g.88838792C>G	TOPMed
rs182894280	p.Ala67Thr	missense variant	-	NC_000015.10:g.88838791G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773473572	p.Pro68Gln	missense variant	-	NC_000015.10:g.88838795C>A	NCI-TCGA,NCI-TCGA Cosmic
rs773473572	p.Pro68Gln	missense variant	-	NC_000015.10:g.88838795C>A	ExAC,gnomAD
rs769916642	p.Arg72Ser	missense variant	-	NC_000015.10:g.88838808A>T	ExAC,gnomAD
rs1443393833	p.Arg72Gly	missense variant	-	NC_000015.10:g.88838806A>G	gnomAD
rs775409722	p.Ile73Val	missense variant	-	NC_000015.10:g.88838809A>G	ExAC,TOPMed,gnomAD
rs1168641758	p.Trp75Ter	stop gained	-	NC_000015.10:g.88838817G>A	gnomAD
RCV000508987	p.Trp75Arg	missense variant	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88838815T>C	ClinVar
rs1555453695	p.Trp75Arg	missense variant	-	NC_000015.10:g.88838815T>C	NCI-TCGA
rs1555453695	p.Trp75Arg	missense variant	-	NC_000015.10:g.88838815T>C	-
rs1399907758	p.Ser76Thr	missense variant	-	NC_000015.10:g.88838819G>C	gnomAD
RCV000514420	p.Arg77His	missense variant	-	NC_000015.10:g.88838822G>A	ClinVar
rs199701329	p.Arg77His	missense variant	-	NC_000015.10:g.88838822G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs575468209	p.Arg77Cys	missense variant	-	NC_000015.10:g.88838821C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1403917136	p.Val78Ala	missense variant	-	NC_000015.10:g.88838825T>C	gnomAD
rs1228970627	p.Ser79Pro	missense variant	-	NC_000015.10:g.88838827T>C	TOPMed
rs1344272498	p.Lys80Gln	missense variant	-	NC_000015.10:g.88838830A>C	TOPMed
rs972979581	p.Lys80Arg	missense variant	-	NC_000015.10:g.88838831A>G	TOPMed,gnomAD
rs373267308	p.Glu81Gly	missense variant	-	NC_000015.10:g.88838834A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu81Val	missense variant	-	NC_000015.10:g.88838834A>T	NCI-TCGA
rs766995595	p.Val84Leu	missense variant	-	NC_000015.10:g.88838842G>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu87Pro	missense variant	-	NC_000015.10:g.88838852T>C	NCI-TCGA
rs1380028477	p.Val88Ala	missense variant	-	NC_000015.10:g.88838855T>C	TOPMed
rs1280525388	p.Ala89Thr	missense variant	-	NC_000015.10:g.88838857G>A	gnomAD
NCI-TCGA novel	p.Glu91Gly	missense variant	-	NC_000015.10:g.88838864A>G	NCI-TCGA
rs1304801486	p.Glu91Lys	missense variant	-	NC_000015.10:g.88838863G>A	TOPMed
NCI-TCGA novel	p.Gly92Trp	missense variant	-	NC_000015.10:g.88838866G>T	NCI-TCGA
rs565318742	p.Arg93Cys	missense variant	-	NC_000015.10:g.88838869C>T	NCI-TCGA,NCI-TCGA Cosmic
rs565318742	p.Arg93Gly	missense variant	-	NC_000015.10:g.88838869C>G	ExAC,TOPMed,gnomAD
RCV000508990	p.Arg93Ter	frameshift	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88838865del	ClinVar
rs376202313	p.Arg93His	missense variant	-	NC_000015.10:g.88838870G>A	NCI-TCGA,NCI-TCGA Cosmic
rs565318742	p.Arg93Cys	missense variant	-	NC_000015.10:g.88838869C>T	ExAC,TOPMed,gnomAD
rs376202313	p.Arg93His	missense variant	-	NC_000015.10:g.88838870G>A	ESP,ExAC,TOPMed,gnomAD
rs370626315	p.Val94Leu	missense variant	-	NC_000015.10:g.88838872G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370626315	p.Val94Leu	missense variant	-	NC_000015.10:g.88838872G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370626315	p.Val94Met	missense variant	-	NC_000015.10:g.88838872G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370626315	p.Val94Met	missense variant	-	NC_000015.10:g.88838872G>A	NCI-TCGA,NCI-TCGA Cosmic
rs767131816	p.Arg95Trp	missense variant	-	NC_000015.10:g.88838875C>T	ExAC,TOPMed,gnomAD
rs539804190	p.Arg95Gln	missense variant	-	NC_000015.10:g.88838876G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767131816	p.Arg95Trp	missense variant	-	NC_000015.10:g.88838875C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1183183130	p.Val96Phe	missense variant	-	NC_000015.10:g.88838878G>T	TOPMed
NCI-TCGA novel	p.Asn97Ser	missense variant	-	NC_000015.10:g.88838882A>G	NCI-TCGA
rs1479458927	p.Ser98Arg	missense variant	-	NC_000015.10:g.88838886T>G	TOPMed
rs777992997	p.Tyr100Asp	missense variant	-	NC_000015.10:g.88838890T>G	ExAC,gnomAD
rs1185203543	p.Gln101Arg	missense variant	-	NC_000015.10:g.88838894A>G	gnomAD
COSM3969323	p.Gln101Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838893C>G	NCI-TCGA Cosmic
rs769793742	p.Asp102Gly	missense variant	-	NC_000015.10:g.88838897A>G	ExAC,gnomAD
rs16942318	p.Asp102Glu	missense variant	-	NC_000015.10:g.88838898C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs16942318	p.Asp102Glu	missense variant	-	NC_000015.10:g.88838898C>A	UniProt,dbSNP
VAR_056152	p.Asp102Glu	missense variant	-	NC_000015.10:g.88838898C>A	UniProt
NCI-TCGA novel	p.Ser105Ter	stop gained	-	NC_000015.10:g.88838906C>A	NCI-TCGA
rs749000770	p.Pro107Ser	missense variant	-	NC_000015.10:g.88838911C>T	ExAC,gnomAD
COSM3969325	p.Pro107Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838911C>A	NCI-TCGA Cosmic
rs761498283	p.Asn108Ser	missense variant	-	NC_000015.10:g.88838915A>G	ExAC,gnomAD
rs771780380	p.Asn108Lys	missense variant	-	NC_000015.10:g.88838916C>A	ExAC,gnomAD
rs774066700	p.Asn108His	missense variant	-	NC_000015.10:g.88838914A>C	ExAC,gnomAD
rs771780380	p.Asn108Lys	missense variant	-	NC_000015.10:g.88838916C>G	ExAC,gnomAD
rs370458786	p.Pro110Leu	missense variant	-	NC_000015.10:g.88838921C>T	ESP,ExAC,TOPMed,gnomAD
COSM268560	p.Ala111Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88838923G>T	NCI-TCGA Cosmic
rs1297420839	p.Ala111Asp	missense variant	-	NC_000015.10:g.88838924C>A	gnomAD
rs1406407025	p.Ile112Asn	missense variant	-	NC_000015.10:g.88838927T>A	gnomAD
rs1222211543	p.Ser114Gly	missense variant	-	NC_000015.10:g.88838932A>G	TOPMed
NCI-TCGA novel	p.Asp115Asn	missense variant	-	NC_000015.10:g.88838935G>A	NCI-TCGA
rs760009352	p.Ala116Thr	missense variant	-	NC_000015.10:g.88838938G>A	ExAC,gnomAD
rs760009352	p.Ala116Thr	missense variant	-	NC_000015.10:g.88838938G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1285733229	p.Glu119Gln	missense variant	-	NC_000015.10:g.88838947G>C	gnomAD
rs550721325	p.Val120Phe	missense variant	-	NC_000015.10:g.88838950G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1426384878	p.Gln121Arg	missense variant	-	NC_000015.10:g.88838954A>G	gnomAD
rs1414392408	p.Ser122Asn	missense variant	-	NC_000015.10:g.88838957G>A	gnomAD
rs201105250	p.Arg124Cys	missense variant	-	NC_000015.10:g.88838962C>T	ExAC,TOPMed,gnomAD
rs757439227	p.Arg124His	missense variant	-	NC_000015.10:g.88838963G>A	NCI-TCGA,NCI-TCGA Cosmic
rs201105250	p.Arg124Cys	missense variant	-	NC_000015.10:g.88838962C>T	NCI-TCGA,NCI-TCGA Cosmic
rs757439227	p.Arg124His	missense variant	-	NC_000015.10:g.88838963G>A	ExAC,gnomAD
rs1477811556	p.Asn126Ser	missense variant	-	NC_000015.10:g.88838969A>G	gnomAD
rs780095199	p.Asn126Tyr	missense variant	-	NC_000015.10:g.88838968A>T	ExAC,TOPMed,gnomAD
rs780095199	p.Asn126His	missense variant	-	NC_000015.10:g.88838968A>C	ExAC,TOPMed,gnomAD
rs1403191177	p.Ser128Phe	missense variant	-	NC_000015.10:g.88838975C>T	gnomAD
rs550510196	p.Arg132Cys	missense variant	-	NC_000015.10:g.88838986C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs768518689	p.Arg132Leu	missense variant	-	NC_000015.10:g.88838987G>T	ExAC,TOPMed,gnomAD
rs768518689	p.Arg132His	missense variant	-	NC_000015.10:g.88838987G>A	ExAC,TOPMed,gnomAD
rs372054790	p.Glu134Lys	missense variant	-	NC_000015.10:g.88838992G>A	ESP,ExAC,TOPMed,gnomAD
rs772856511	p.Met136Ile	missense variant	-	NC_000015.10:g.88839000G>A	ExAC,TOPMed,gnomAD
rs1182504090	p.Met136Lys	missense variant	-	NC_000015.10:g.88838999T>A	TOPMed
rs760138666	p.Gly138Ala	missense variant	-	NC_000015.10:g.88839005G>C	ExAC,gnomAD
rs776044877	p.Glu140Lys	missense variant	-	NC_000015.10:g.88839010G>A	ExAC,TOPMed,gnomAD
rs776044877	p.Glu140Lys	missense variant	-	NC_000015.10:g.88839010G>A	NCI-TCGA
rs961426109	p.Ser142Arg	missense variant	-	NC_000015.10:g.88839018C>A	TOPMed,gnomAD
rs765720290	p.Glu143Asp	missense variant	-	NC_000015.10:g.88839021G>C	ExAC,gnomAD
rs372286756	p.Glu143Lys	missense variant	-	NC_000015.10:g.88839019G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372286756	p.Glu143Lys	missense variant	-	NC_000015.10:g.88839019G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1285887151	p.Ala144Thr	missense variant	-	NC_000015.10:g.88839022G>A	gnomAD
rs763410231	p.Thr145Ile	missense variant	-	NC_000015.10:g.88839026C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr145Ala	missense variant	-	NC_000015.10:g.88839025A>G	NCI-TCGA
COSM3505081	p.Val148Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88839034G>A	NCI-TCGA Cosmic
rs1234683634	p.Val148Ala	missense variant	-	NC_000015.10:g.88839035T>C	gnomAD
rs1177970558	p.Val149Met	missense variant	-	NC_000015.10:g.88839037G>A	TOPMed,gnomAD
rs1177970558	p.Val149Met	missense variant	-	NC_000015.10:g.88839037G>A	NCI-TCGA Cosmic
rs1385830351	p.Gly152Ser	missense variant	-	NC_000015.10:g.88839046G>A	gnomAD
rs758371121	p.Ile153Met	missense variant	-	NC_000015.10:g.88840016C>G	ExAC,TOPMed,gnomAD
rs370113313	p.Val154Met	missense variant	-	NC_000015.10:g.88840017G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.His156Tyr	missense variant	-	NC_000015.10:g.88840023C>T	NCI-TCGA
rs1195138124	p.Ala159Pro	missense variant	-	NC_000015.10:g.88840032G>C	gnomAD
rs1240142040	p.Ile160Leu	missense variant	-	NC_000015.10:g.88840035A>C	gnomAD
rs777539705	p.Ser161Tyr	missense variant	-	NC_000015.10:g.88840039C>A	ExAC,TOPMed,gnomAD
rs1176629215	p.Arg163Cys	missense variant	-	NC_000015.10:g.88840044C>T	TOPMed,gnomAD
rs1176629215	p.Arg163Ser	missense variant	-	NC_000015.10:g.88840044C>A	TOPMed,gnomAD
rs746862356	p.Arg163His	missense variant	-	NC_000015.10:g.88840045G>A	ExAC,TOPMed,gnomAD
rs1176629215	p.Arg163Cys	missense variant	-	NC_000015.10:g.88840044C>T	NCI-TCGA
rs1467735139	p.Tyr164His	missense variant	-	NC_000015.10:g.88840047T>C	gnomAD
rs1002148043	p.Thr165Ser	missense variant	-	NC_000015.10:g.88840050A>T	gnomAD
rs1383254411	p.Thr165Asn	missense variant	-	NC_000015.10:g.88840051C>A	gnomAD
rs780709119	p.Asp167Asn	missense variant	-	NC_000015.10:g.88840056G>A	ExAC,TOPMed,gnomAD
rs769205516	p.Phe168Leu	missense variant	-	NC_000015.10:g.88840061T>G	ExAC,TOPMed,gnomAD
rs367881858	p.Arg170Lys	missense variant	-	NC_000015.10:g.88840066G>A	ESP,TOPMed,gnomAD
RCV000658170	p.Ala171Val	missense variant	-	NC_000015.10:g.88840069C>T	ClinVar
rs371065660	p.Ala171Val	missense variant	-	NC_000015.10:g.88840069C>T	ESP,TOPMed,gnomAD
rs769356878	p.Arg173Gln	missense variant	-	NC_000015.10:g.88840075G>A	ExAC,TOPMed,gnomAD
rs374211268	p.Arg173Trp	missense variant	-	NC_000015.10:g.88840074C>T	ESP,ExAC,TOPMed,gnomAD
rs374211268	p.Arg173Trp	missense variant	-	NC_000015.10:g.88840074C>T	NCI-TCGA
rs769356878	p.Arg173Gln	missense variant	-	NC_000015.10:g.88840075G>A	NCI-TCGA
rs767714238	p.Ala174Val	missense variant	-	NC_000015.10:g.88840078C>T	ExAC,gnomAD
rs762284114	p.Ala174Thr	missense variant	-	NC_000015.10:g.88840077G>A	ExAC,gnomAD
rs767714238	p.Ala174Asp	missense variant	-	NC_000015.10:g.88840078C>A	ExAC,gnomAD
rs1328842971	p.Asn178Ile	missense variant	-	NC_000015.10:g.88840090A>T	TOPMed
NCI-TCGA novel	p.Asn178TyrGly	insertion	-	NC_000015.10:g.88840090_88840091insTTATGG	NCI-TCGA
rs766337526	p.Ser179Asn	missense variant	-	NC_000015.10:g.88840093G>A	ExAC,TOPMed,gnomAD
rs199602867	p.Ile181Asn	missense variant	-	NC_000015.10:g.88840099T>A	ESP,ExAC,TOPMed,gnomAD
rs1023774324	p.Ile182Thr	missense variant	-	NC_000015.10:g.88840102T>C	TOPMed,gnomAD
rs1293500351	p.Ala183Val	missense variant	-	NC_000015.10:g.88840105C>T	TOPMed
rs1293500351	p.Ala183Val	missense variant	-	NC_000015.10:g.88840105C>T	NCI-TCGA Cosmic
rs771509541	p.Thr184Met	missense variant	-	NC_000015.10:g.88840108C>T	ExAC,TOPMed,gnomAD
rs751285545	p.Pro185Thr	missense variant	-	NC_000015.10:g.88840110C>A	ExAC,TOPMed,gnomAD
rs1241121346	p.Pro185Leu	missense variant	-	NC_000015.10:g.88840111C>T	gnomAD
rs374984332	p.Ala190Thr	missense variant	-	NC_000015.10:g.88840125G>A	ESP,ExAC,TOPMed,gnomAD
rs1487339387	p.Ala191Val	missense variant	-	NC_000015.10:g.88840129C>T	TOPMed,gnomAD
rs527447898	p.Ala191Thr	missense variant	-	NC_000015.10:g.88840128G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs527447898	p.Ala191Thr	missense variant	-	NC_000015.10:g.88840128G>A	NCI-TCGA,NCI-TCGA Cosmic
rs755834901	p.Tyr192Cys	missense variant	-	NC_000015.10:g.88840132A>G	ExAC,gnomAD
rs755834901	p.Tyr192Cys	missense variant	-	NC_000015.10:g.88840132A>G	NCI-TCGA
rs748868363	p.Glu193Lys	missense variant	-	NC_000015.10:g.88840134G>A	ExAC,TOPMed,gnomAD
COSM6143204	p.Asp194Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88840139C>G	NCI-TCGA Cosmic
rs779568883	p.Gly195Asp	missense variant	-	NC_000015.10:g.88840141G>A	ExAC,gnomAD
rs1002162958	p.Gly195Ser	missense variant	-	NC_000015.10:g.88840140G>A	TOPMed,gnomAD
rs1293105853	p.Cys199Tyr	missense variant	-	NC_000015.10:g.88840153G>A	gnomAD
rs568955745	p.Ala201Ser	missense variant	-	NC_000015.10:g.88840158G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs568955745	p.Ala201Thr	missense variant	-	NC_000015.10:g.88840158G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs771241836	p.Gly202Ser	missense variant	-	NC_000015.10:g.88840161G>A	ExAC,TOPMed,gnomAD
rs771241836	p.Gly202Ser	missense variant	-	NC_000015.10:g.88840161G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu204Met	missense variant	-	NC_000015.10:g.88840167C>A	NCI-TCGA
rs1246618380	p.Asp206Gly	missense variant	-	NC_000015.10:g.88840174A>G	gnomAD
rs1316897563	p.Gln207Ter	stop gained	-	NC_000015.10:g.88840176C>T	gnomAD
rs1319651016	p.Thr208Ile	missense variant	-	NC_000015.10:g.88840180C>T	gnomAD
rs776632256	p.Arg210Gly	missense variant	-	NC_000015.10:g.88840185A>G	ExAC,gnomAD
rs1311025520	p.Pro212Ala	missense variant	-	NC_000015.10:g.88841744C>G	gnomAD
rs758772503	p.Thr215Ala	missense variant	-	NC_000015.10:g.88841753A>G	ExAC,TOPMed
rs191442526	p.Pro216Leu	missense variant	-	NC_000015.10:g.88841757C>T	1000Genomes
rs370993153	p.Arg217Gly	missense variant	-	NC_000015.10:g.88841759C>G	ESP,ExAC,TOPMed,gnomAD
rs757637229	p.Arg217Gln	missense variant	-	NC_000015.10:g.88841760G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg217Pro	missense variant	-	NC_000015.10:g.88841760G>C	NCI-TCGA
rs757637229	p.Arg217Gln	missense variant	-	NC_000015.10:g.88841760G>A	NCI-TCGA,NCI-TCGA Cosmic
rs370993153	p.Arg217Trp	missense variant	-	NC_000015.10:g.88841759C>T	ESP,ExAC,TOPMed,gnomAD
rs781581989	p.Gly219Val	missense variant	-	NC_000015.10:g.88841766G>T	ExAC,gnomAD
NCI-TCGA novel	p.Cys220Ser	missense variant	-	NC_000015.10:g.88841769G>C	NCI-TCGA
rs746056428	p.Tyr221Cys	missense variant	-	NC_000015.10:g.88841772A>G	ExAC,TOPMed,gnomAD
COSM6078111	p.Asp223Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88841778A>G	NCI-TCGA Cosmic
rs374644024	p.Asp223Asn	missense variant	-	NC_000015.10:g.88841777G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys224Asn	missense variant	-	NC_000015.10:g.88841782G>T	NCI-TCGA
rs1453170652	p.Asp225Tyr	missense variant	-	NC_000015.10:g.88841783G>T	TOPMed
COSM5936107	p.Asp225Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88841783G>A	NCI-TCGA Cosmic
COSM4929942	p.Asp225Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88841784A>G	NCI-TCGA Cosmic
rs749403999	p.Glu226Lys	missense variant	-	NC_000015.10:g.88841786G>A	ExAC,TOPMed,gnomAD
rs1354451023	p.Pro228Ser	missense variant	-	NC_000015.10:g.88841792C>T	TOPMed
rs1413857102	p.Gly229Asp	missense variant	-	NC_000015.10:g.88841796G>A	gnomAD
rs1362249306	p.Arg231Ser	missense variant	-	NC_000015.10:g.88841803G>C	gnomAD
rs771842029	p.Thr232Met	missense variant	-	NC_000015.10:g.88841805C>T	NCI-TCGA
rs771842029	p.Thr232Met	missense variant	-	NC_000015.10:g.88841805C>T	ExAC,gnomAD
rs771842029	p.Thr232Arg	missense variant	-	NC_000015.10:g.88841805C>G	ExAC,gnomAD
rs776609333	p.Gly234Ala	missense variant	-	NC_000015.10:g.88841811G>C	ExAC,gnomAD
rs759248879	p.Ile235Phe	missense variant	-	NC_000015.10:g.88841813A>T	ExAC,TOPMed,gnomAD
rs764993901	p.Arg236Gln	missense variant	-	NC_000015.10:g.88841817G>A	ExAC,TOPMed,gnomAD
rs764993901	p.Arg236Gln	missense variant	-	NC_000015.10:g.88841817G>A	NCI-TCGA
rs1275734191	p.Thr238Ile	missense variant	-	NC_000015.10:g.88841823C>T	TOPMed
rs757955838	p.Asn239Ser	missense variant	-	NC_000015.10:g.88841826A>G	ExAC,TOPMed,gnomAD
rs757955838	p.Asn239Thr	missense variant	-	NC_000015.10:g.88841826A>C	ExAC,TOPMed,gnomAD
rs200578079	p.Glu240Lys	missense variant	-	NC_000015.10:g.88841828G>A	NCI-TCGA,NCI-TCGA Cosmic
rs200578079	p.Glu240Lys	missense variant	-	NC_000015.10:g.88841828G>A	ESP,ExAC,TOPMed,gnomAD
rs757798845	p.Thr241Ile	missense variant	-	NC_000015.10:g.88841832C>T	ExAC,gnomAD
rs757798845	p.Thr241Ile	missense variant	-	NC_000015.10:g.88841832C>T	NCI-TCGA
rs1285750375	p.Tyr242Cys	missense variant	-	NC_000015.10:g.88841835A>G	gnomAD
rs1363057099	p.Val244Ala	missense variant	-	NC_000015.10:g.88841841T>C	TOPMed
rs746292202	p.Phe247Leu	missense variant	-	NC_000015.10:g.88841849T>C	ExAC,gnomAD
rs564289325	p.Ala248Thr	missense variant	-	NC_000015.10:g.88841852G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala248Pro	missense variant	-	NC_000015.10:g.88841852G>C	NCI-TCGA
rs564289325	p.Ala248Ser	missense variant	-	NC_000015.10:g.88841852G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs768804104	p.Glu249Asp	missense variant	-	NC_000015.10:g.88841857G>C	ExAC,gnomAD
rs560781973	p.Glu249Lys	missense variant	-	NC_000015.10:g.88841855G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1348825150	p.Glu250Lys	missense variant	-	NC_000015.10:g.88841858G>A	TOPMed,gnomAD
rs774343061	p.Met251Leu	missense variant	-	NC_000015.10:g.88841861A>C	ExAC,TOPMed,gnomAD
rs528232598	p.Met251Thr	missense variant	-	NC_000015.10:g.88841862T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs920232909	p.Glu252Asp	missense variant	-	NC_000015.10:g.88841866G>C	gnomAD
COSM3505085	p.Glu252Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88841864G>A	NCI-TCGA Cosmic
rs761319997	p.Val255Ala	missense variant	-	NC_000015.10:g.88843361T>C	ExAC,gnomAD
rs377286945	p.Val255Ile	missense variant	-	NC_000015.10:g.88843360G>A	ESP,ExAC,gnomAD
rs1416647652	p.Ala258Val	missense variant	-	NC_000015.10:g.88843370C>T	gnomAD
NCI-TCGA novel	p.Ser260Tyr	missense variant	-	NC_000015.10:g.88843376C>A	NCI-TCGA
rs767977103	p.Thr265Asn	missense variant	-	NC_000015.10:g.88843391C>A	ExAC,gnomAD
rs761136902	p.Gln267Glu	missense variant	-	NC_000015.10:g.88843396C>G	ExAC,gnomAD
rs766735190	p.Ala269Pro	missense variant	-	NC_000015.10:g.88843402G>C	ExAC,gnomAD
rs754225607	p.Asn271Ser	missense variant	-	NC_000015.10:g.88843409A>G	ExAC,TOPMed,gnomAD
rs754225607	p.Asn271Ile	missense variant	-	NC_000015.10:g.88843409A>T	ExAC,TOPMed,gnomAD
COSM3794490	p.Glu272Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88843411G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys273Tyr	missense variant	-	NC_000015.10:g.88843415G>A	NCI-TCGA
rs369870175	p.Arg274Trp	missense variant	-	NC_000015.10:g.88843417C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369870175	p.Arg274Trp	missense variant	-	NC_000015.10:g.88843417C>T	NCI-TCGA,NCI-TCGA Cosmic
rs373432805	p.Arg274Gln	missense variant	-	NC_000015.10:g.88843418G>A	ESP,ExAC,TOPMed,gnomAD
rs1198605516	p.Arg275Trp	missense variant	-	NC_000015.10:g.88843420C>T	NCI-TCGA Cosmic
rs34949187	p.Arg275Gln	missense variant	-	NC_000015.10:g.88843421G>A	UniProt,dbSNP
VAR_056153	p.Arg275Gln	missense variant	-	NC_000015.10:g.88843421G>A	UniProt
rs34949187	p.Arg275Gln	missense variant	-	NC_000015.10:g.88843421G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1198605516	p.Arg275Trp	missense variant	-	NC_000015.10:g.88843420C>T	gnomAD
rs1309739026	p.Gly277Val	missense variant	-	NC_000015.10:g.88843427G>T	TOPMed
COSM1129070	p.Gly277Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88843426G>A	NCI-TCGA Cosmic
rs184913582	p.Arg279Pro	missense variant	-	NC_000015.10:g.88843433G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs745766545	p.Arg279Trp	missense variant	-	NC_000015.10:g.88843432C>T	ExAC,TOPMed,gnomAD
rs184913582	p.Arg279Gln	missense variant	-	NC_000015.10:g.88843433G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749047801	p.Thr283Met	missense variant	-	NC_000015.10:g.88843445C>T	ExAC,TOPMed,gnomAD
rs749047801	p.Thr283Lys	missense variant	-	NC_000015.10:g.88843445C>A	NCI-TCGA
rs749047801	p.Thr283Lys	missense variant	-	NC_000015.10:g.88843445C>A	ExAC,TOPMed,gnomAD
rs1378791702	p.Thr283Ala	missense variant	-	NC_000015.10:g.88843444A>G	gnomAD
NCI-TCGA novel	p.Gln285His	missense variant	-	NC_000015.10:g.88843452G>T	NCI-TCGA
rs774028386	p.Leu286Phe	missense variant	-	NC_000015.10:g.88843453C>T	ExAC,gnomAD
rs774028386	p.Leu286Val	missense variant	-	NC_000015.10:g.88843453C>G	ExAC,gnomAD
rs747612281	p.Tyr287Cys	missense variant	-	NC_000015.10:g.88843457A>G	ExAC,gnomAD
rs771549237	p.Ala289Asp	missense variant	-	NC_000015.10:g.88843463C>A	ExAC
rs772749915	p.Trp290Gly	missense variant	-	NC_000015.10:g.88843465T>G	ExAC,TOPMed,gnomAD
rs761241049	p.Gln291Ter	stop gained	-	NC_000015.10:g.88843468C>T	ExAC,gnomAD
rs766854282	p.Ala292Thr	missense variant	-	NC_000015.10:g.88843471G>A	ExAC,gnomAD
rs915488953	p.Ala292Val	missense variant	-	NC_000015.10:g.88843472C>T	gnomAD
rs915488953	p.Ala292Gly	missense variant	-	NC_000015.10:g.88843472C>G	gnomAD
rs776985817	p.Gly293Asp	missense variant	-	NC_000015.10:g.88843475G>A	ExAC,TOPMed,gnomAD
rs776985817	p.Gly293Ala	missense variant	-	NC_000015.10:g.88843475G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met294Ile	missense variant	-	NC_000015.10:g.88843479G>T	NCI-TCGA
rs1364192775	p.Asp295Gly	missense variant	-	NC_000015.10:g.88843481A>G	TOPMed
NCI-TCGA novel	p.Asp295Asn	missense variant	-	NC_000015.10:g.88843480G>A	NCI-TCGA
rs759847781	p.Met296Leu	missense variant	-	NC_000015.10:g.88843483A>C	ExAC,gnomAD
rs558565679	p.Met296Thr	missense variant	-	NC_000015.10:g.88843484T>C	1000Genomes,ExAC,gnomAD
rs1183769629	p.Met296Ile	missense variant	-	NC_000015.10:g.88843485G>T	TOPMed
rs752944661	p.Ser298Asn	missense variant	-	NC_000015.10:g.88843490G>A	ExAC,gnomAD
rs1003014165	p.Ala299Val	missense variant	-	NC_000015.10:g.88843493C>T	TOPMed,gnomAD
rs764260441	p.Ala299Thr	missense variant	-	NC_000015.10:g.88843492G>A	ExAC,TOPMed,gnomAD
rs1003014165	p.Ala299Asp	missense variant	-	NC_000015.10:g.88843493C>A	TOPMed,gnomAD
rs746931049	p.Gly300Ser	missense variant	-	NC_000015.10:g.88843495G>A	ExAC,TOPMed,gnomAD
RCV000424243	p.Gly300Ser	missense variant	-	NC_000015.10:g.88843495G>A	ClinVar
rs1430909928	p.Leu302Pro	missense variant	-	NC_000015.10:g.88843502T>C	gnomAD
NCI-TCGA novel	p.Ala303Val	missense variant	-	NC_000015.10:g.88843505C>T	NCI-TCGA
NCI-TCGA novel	p.Ala303Thr	missense variant	-	NC_000015.10:g.88843504G>A	NCI-TCGA
rs372895171	p.Arg305Cys	missense variant	-	NC_000015.10:g.88843510C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768504322	p.Arg305Leu	missense variant	-	NC_000015.10:g.88843511G>T	ExAC,TOPMed,gnomAD
rs372895171	p.Arg305Ser	missense variant	-	NC_000015.10:g.88843510C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768504322	p.Arg305His	missense variant	-	NC_000015.10:g.88843511G>A	ExAC,TOPMed,gnomAD
rs372895171	p.Arg305Gly	missense variant	-	NC_000015.10:g.88843510C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778732470	p.Val307Met	missense variant	-	NC_000015.10:g.88843516G>A	ExAC,gnomAD
rs1294296622	p.Arg308Cys	missense variant	-	NC_000015.10:g.88843519C>T	gnomAD
rs747767483	p.Arg308His	missense variant	-	NC_000015.10:g.88843520G>A	NCI-TCGA
rs747767483	p.Arg308His	missense variant	-	NC_000015.10:g.88843520G>A	ExAC,TOPMed,gnomAD
rs1377648176	p.Lys313Thr	missense variant	-	NC_000015.10:g.88843535A>C	gnomAD
rs772697028	p.Ala314Gly	missense variant	-	NC_000015.10:g.88843538C>G	ExAC,TOPMed,gnomAD
rs772697028	p.Ala314Asp	missense variant	-	NC_000015.10:g.88843538C>A	ExAC,TOPMed,gnomAD
rs1242151781	p.Ala314Ser	missense variant	-	NC_000015.10:g.88843537G>T	gnomAD
rs1242151781	p.Ala314Ser	missense variant	-	NC_000015.10:g.88843537G>T	NCI-TCGA
rs1266883825	p.Arg315Gln	missense variant	-	NC_000015.10:g.88843541G>A	gnomAD
rs771427434	p.Arg315Trp	missense variant	-	NC_000015.10:g.88843540C>T	ExAC,TOPMed,gnomAD
rs760137135	p.Asn317Ser	missense variant	-	NC_000015.10:g.88843547A>G	ExAC,TOPMed,gnomAD
rs1238182380	p.Asn317Lys	missense variant	-	NC_000015.10:g.88843548C>A	gnomAD
rs1044441746	p.Gly319Ser	missense variant	-	NC_000015.10:g.88843552G>A	TOPMed
rs1464364807	p.Gly319Asp	missense variant	-	NC_000015.10:g.88843553G>A	TOPMed
rs1428448258	p.Gly320Val	missense variant	-	NC_000015.10:g.88843556G>T	TOPMed
COSM702217	p.Gly324Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88843568G>T	NCI-TCGA Cosmic
rs200118502	p.Val325Leu	missense variant	-	NC_000015.10:g.88843570G>T	ESP,ExAC,TOPMed,gnomAD
rs200118502	p.Val325Met	missense variant	-	NC_000015.10:g.88843570G>A	ESP,ExAC,TOPMed,gnomAD
rs200118502	p.Val325Leu	missense variant	-	NC_000015.10:g.88843570G>C	ESP,ExAC,TOPMed,gnomAD
rs751588853	p.Thr327Pro	missense variant	-	NC_000015.10:g.88843576A>C	ExAC,gnomAD
rs1162747201	p.Val328Ile	missense variant	-	NC_000015.10:g.88843579G>A	gnomAD
rs1162747201	p.Val328Ile	missense variant	-	NC_000015.10:g.88843579G>A	NCI-TCGA Cosmic
rs766293702	p.Val330Leu	missense variant	-	NC_000015.10:g.88843585G>T	ExAC,TOPMed,gnomAD
rs766293702	p.Val330Met	missense variant	-	NC_000015.10:g.88843585G>A	ExAC,TOPMed,gnomAD
rs766293702	p.Val330Met	missense variant	-	NC_000015.10:g.88843585G>A	NCI-TCGA,NCI-TCGA Cosmic
rs570748192	p.His331Gln	missense variant	-	NC_000015.10:g.88843590T>A	TOPMed,gnomAD
rs753701070	p.His331Asn	missense variant	-	NC_000015.10:g.88843588C>A	ExAC,TOPMed,gnomAD
rs776721559	p.Asn333Ser	missense variant	-	NC_000015.10:g.88843595A>G	ExAC,TOPMed,gnomAD
rs370865297	p.Thr335Met	missense variant	-	NC_000015.10:g.88843601C>T	ESP,ExAC,TOPMed,gnomAD
rs370865297	p.Thr335Met	missense variant	-	NC_000015.10:g.88843601C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1243539781	p.Gly336Cys	missense variant	-	NC_000015.10:g.88843603G>T	gnomAD
rs1243539781	p.Gly336Ser	missense variant	-	NC_000015.10:g.88843603G>A	gnomAD
rs374218750	p.Pro338Leu	missense variant	-	NC_000015.10:g.88843610C>T	ESP,ExAC,TOPMed,gnomAD
rs777432522	p.Pro338Ala	missense variant	-	NC_000015.10:g.88843609C>G	ExAC,TOPMed,gnomAD
rs374218750	p.Pro338Arg	missense variant	-	NC_000015.10:g.88843610C>G	ESP,ExAC,TOPMed,gnomAD
rs374218750	p.Pro338Leu	missense variant	-	NC_000015.10:g.88843610C>T	NCI-TCGA,NCI-TCGA Cosmic
RCV000430818	p.Pro338Leu	missense variant	-	NC_000015.10:g.88843610C>T	ClinVar
rs777432522	p.Pro338Ser	missense variant	-	NC_000015.10:g.88843609C>T	ExAC,TOPMed,gnomAD
rs746352037	p.Asp339Tyr	missense variant	-	NC_000015.10:g.88843612G>T	ExAC,TOPMed,gnomAD
rs989568054	p.Asp339Val	missense variant	-	NC_000015.10:g.88843613A>T	TOPMed
rs746352037	p.Asp339Asn	missense variant	-	NC_000015.10:g.88843612G>A	NCI-TCGA,NCI-TCGA Cosmic
rs915505446	p.Asp339Glu	missense variant	-	NC_000015.10:g.88843614C>A	TOPMed,gnomAD
rs746352037	p.Asp339Asn	missense variant	-	NC_000015.10:g.88843612G>A	ExAC,TOPMed,gnomAD
COSM3505093	p.Pro340Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88843616C>T	NCI-TCGA Cosmic
rs1405125406	p.Ser341Leu	missense variant	-	NC_000015.10:g.88843619C>T	TOPMed
rs376508432	p.Arg343Cys	missense variant	-	NC_000015.10:g.88843624C>T	ESP,ExAC,TOPMed,gnomAD
rs763412179	p.Arg343His	missense variant	-	NC_000015.10:g.88843625G>A	ExAC,TOPMed,gnomAD
rs768962559	p.Tyr344His	missense variant	-	NC_000015.10:g.88843627T>C	ExAC,gnomAD
rs774462118	p.Tyr344Cys	missense variant	-	NC_000015.10:g.88843628A>G	ExAC,TOPMed,gnomAD
rs767467522	p.Asp345Asn	missense variant	-	NC_000015.10:g.88843630G>A	ExAC,gnomAD
rs545729531	p.Ala346Thr	missense variant	-	NC_000015.10:g.88843633G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs79832113	p.Tyr349Cys	missense variant	-	NC_000015.10:g.88843643A>G	1000Genomes,ExAC,TOPMed
rs1013537550	p.Gly351Asp	missense variant	-	NC_000015.10:g.88845505G>A	TOPMed,gnomAD
rs1000707476	p.Asp353Val	missense variant	-	NC_000015.10:g.88845511A>T	TOPMed,gnomAD
rs749910732	p.Phe354Tyr	missense variant	-	NC_000015.10:g.88845514T>A	ExAC,gnomAD
rs755711052	p.Val355Ala	missense variant	-	NC_000015.10:g.88845517T>C	ExAC,gnomAD
rs1024890615	p.Asp356Asn	missense variant	-	NC_000015.10:g.88845519G>A	NCI-TCGA
rs1024890615	p.Asp356Asn	missense variant	-	NC_000015.10:g.88845519G>A	-
COSM3887706	p.Pro358Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88845525C>T	NCI-TCGA Cosmic
rs1296678557	p.Asn360Ile	missense variant	-	NC_000015.10:g.88845532A>T	gnomAD
rs549170099	p.Asn360Lys	missense variant	-	NC_000015.10:g.88845533C>A	1000Genomes
COSM1181532	p.Phe361Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88845536C>A	NCI-TCGA Cosmic
rs567446094	p.Gly365Ala	missense variant	-	NC_000015.10:g.88845547G>C	1000Genomes
COSM5121740	p.Gly366ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.88845545G>-	NCI-TCGA Cosmic
rs1438051316	p.Gly366Arg	missense variant	-	NC_000015.10:g.88845549G>C	gnomAD
rs755579927	p.Gly366Asp	missense variant	-	NC_000015.10:g.88845550G>A	ExAC,gnomAD
COSM1375255	p.Glu367Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.88845544_88845545insG	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu368Lys	missense variant	-	NC_000015.10:g.88845555G>A	NCI-TCGA
rs950735603	p.Glu368Asp	missense variant	-	NC_000015.10:g.88845557G>C	TOPMed
rs1180913087	p.Ile370Val	missense variant	-	NC_000015.10:g.88845561A>G	TOPMed
rs372762081	p.Val372Ile	missense variant	-	NC_000015.10:g.88845567G>A	ESP,ExAC,TOPMed,gnomAD
rs1356248639	p.Gln373Leu	missense variant	-	NC_000015.10:g.88845571A>T	gnomAD
rs773517396	p.Thr374Ile	missense variant	-	NC_000015.10:g.88845574C>T	ExAC,TOPMed,gnomAD
COSM4932465	p.Thr374Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88845573A>G	NCI-TCGA Cosmic
rs773517396	p.Thr374Arg	missense variant	-	NC_000015.10:g.88845574C>G	ExAC,TOPMed,gnomAD
rs747278844	p.Val375Ala	missense variant	-	NC_000015.10:g.88845577T>C	ExAC,gnomAD
rs377176198	p.Thr376Ser	missense variant	-	NC_000015.10:g.88845580C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp377CysPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.88845583G>-	NCI-TCGA
rs776758695	p.Trp377Arg	missense variant	-	NC_000015.10:g.88845582T>C	ExAC,TOPMed,gnomAD
rs762863511	p.Pro378Thr	missense variant	-	NC_000015.10:g.88845585C>A	ExAC,gnomAD
rs764102419	p.Asp379Asn	missense variant	-	NC_000015.10:g.88845588G>A	ExAC,gnomAD
rs1002450754	p.Met380Ile	missense variant	-	NC_000015.10:g.88845593G>A	TOPMed,gnomAD
rs1239815051	p.Glu381Asp	missense variant	-	NC_000015.10:g.88845596G>C	gnomAD
rs974959270	p.Pro383Gln	missense variant	-	NC_000015.10:g.88845601C>A	gnomAD
rs1221062169	p.Leu384Val	missense variant	-	NC_000015.10:g.88845603C>G	NCI-TCGA
rs1221062169	p.Leu384Val	missense variant	-	NC_000015.10:g.88845603C>G	gnomAD
rs773948197	p.Arg386Gly	missense variant	-	NC_000015.10:g.88845609C>G	ExAC,gnomAD
rs761696605	p.Arg386Gln	missense variant	-	NC_000015.10:g.88845610G>A	ExAC,gnomAD
rs773948197	p.Arg386Ter	stop gained	-	NC_000015.10:g.88845609C>T	ExAC,gnomAD
rs761696605	p.Arg386Gln	missense variant	-	NC_000015.10:g.88845610G>A	NCI-TCGA
RCV000595381	p.Arg386Ter	nonsense	-	NC_000015.10:g.88845609C>T	ClinVar
rs767026007	p.Ile388Val	missense variant	-	NC_000015.10:g.88845615A>G	ExAC,TOPMed,gnomAD
rs369041225	p.Gly391Cys	missense variant	-	NC_000015.10:g.88845624G>T	ESP,ExAC,TOPMed,gnomAD
rs1393024677	p.Gly391Val	missense variant	-	NC_000015.10:g.88845625G>T	gnomAD
NCI-TCGA novel	p.Glu392Ter	stop gained	-	NC_000015.10:g.88845627G>T	NCI-TCGA
rs1440861231	p.Ala393Ser	missense variant	-	NC_000015.10:g.88845630G>T	gnomAD
rs200709031	p.Arg394Gln	missense variant	-	NC_000015.10:g.88845634G>A	ESP,ExAC,TOPMed,gnomAD
rs117772298	p.Gly395Ser	missense variant	-	NC_000015.10:g.88845636G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117772298	p.Gly395Arg	missense variant	-	NC_000015.10:g.88845636G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs371018764	p.Ser396Thr	missense variant	-	NC_000015.10:g.88845640G>C	ESP,ExAC,TOPMed,gnomAD
rs371018764	p.Ser396Ile	missense variant	-	NC_000015.10:g.88845640G>T	ESP,ExAC,TOPMed,gnomAD
rs371018764	p.Ser396Asn	missense variant	-	NC_000015.10:g.88845640G>A	ESP,ExAC,TOPMed,gnomAD
rs572438161	p.Ser396Arg	missense variant	-	NC_000015.10:g.88845641C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val397Ala	missense variant	-	NC_000015.10:g.88845643T>C	NCI-TCGA
rs748422617	p.Val397Met	missense variant	-	NC_000015.10:g.88845642G>A	ExAC,TOPMed,gnomAD
rs1555454545	p.Ile398Asn	missense variant	-	NC_000015.10:g.88845646T>A	-
RCV000510778	p.Ile398Asn	missense variant	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88845646T>A	ClinVar
rs758765920	p.Leu399Phe	missense variant	-	NC_000015.10:g.88845648C>T	ExAC,gnomAD
rs200027891	p.Val401Ile	missense variant	-	NC_000015.10:g.88845654G>A	ESP,ExAC,TOPMed,gnomAD
rs1477522275	p.Lys402Asn	missense variant	-	NC_000015.10:g.88845659G>C	TOPMed
rs554949381	p.Lys402Glu	missense variant	-	NC_000015.10:g.88845657A>G	1000Genomes,gnomAD
rs368795077	p.Pro403His	missense variant	-	NC_000015.10:g.88845661C>A	ESP,ExAC,gnomAD
rs148070768	p.Ile404Val	missense variant	-	NC_000015.10:g.88845663A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1180906927	p.Ile404Met	missense variant	-	NC_000015.10:g.88845665C>G	gnomAD
rs576493396	p.Glu406Asp	missense variant	-	NC_000015.10:g.88845671G>T	1000Genomes,ExAC,gnomAD
rs774443075	p.Glu406Lys	missense variant	-	NC_000015.10:g.88845669G>A	ExAC,TOPMed,gnomAD
rs543647411	p.Val407Phe	missense variant	-	NC_000015.10:g.88845672G>T	1000Genomes,ExAC,gnomAD
rs773211569	p.Ser408Phe	missense variant	-	NC_000015.10:g.88845676C>T	ExAC,TOPMed,gnomAD
rs773211569	p.Ser408Cys	missense variant	-	NC_000015.10:g.88845676C>G	ExAC,TOPMed,gnomAD
rs773211569	p.Ser408Phe	missense variant	-	NC_000015.10:g.88845676C>T	NCI-TCGA Cosmic
rs200227191	p.Pro409Arg	missense variant	-	NC_000015.10:g.88845679C>G	ExAC,TOPMed,gnomAD
rs200227191	p.Pro409Leu	missense variant	-	NC_000015.10:g.88845679C>T	ExAC,TOPMed,gnomAD
RCV000624642	p.Ser410Ter	frameshift	Inborn genetic diseases	NC_000015.10:g.88845680del	ClinVar
rs766146982	p.Ser410Gly	missense variant	-	NC_000015.10:g.88845681A>G	ExAC,gnomAD
rs754551623	p.Pro411Ser	missense variant	-	NC_000015.10:g.88845684C>T	ExAC,gnomAD
rs1291712383	p.Leu412Gln	missense variant	-	NC_000015.10:g.88845688T>A	TOPMed,gnomAD
rs1291712383	p.Leu412Pro	missense variant	-	NC_000015.10:g.88845688T>C	TOPMed,gnomAD
rs758892087	p.Glu415Lys	missense variant	-	NC_000015.10:g.88845696G>A	ExAC,TOPMed,gnomAD
RCV000760304	p.Glu415Ter	nonsense	-	NC_000015.10:g.88845696G>T	ClinVar
rs758892087	p.Glu415Ter	stop gained	-	NC_000015.10:g.88845696G>T	NCI-TCGA
rs758892087	p.Glu415Lys	missense variant	-	NC_000015.10:g.88845696G>A	NCI-TCGA
rs370296999	p.Glu416Lys	missense variant	-	NC_000015.10:g.88845699G>A	ESP,ExAC,TOPMed,gnomAD
RCV000400099	p.Glu416Lys	missense variant	-	NC_000015.10:g.88845699G>A	ClinVar
rs1168550629	p.Pro417Ala	missense variant	-	NC_000015.10:g.88845702C>G	gnomAD
rs757403740	p.Thr419Pro	missense variant	-	NC_000015.10:g.88845708A>C	ExAC,TOPMed,gnomAD
rs374286796	p.Thr419Met	missense variant	-	NC_000015.10:g.88845709C>T	ESP,ExAC,TOPMed,gnomAD
rs769892728	p.Pro422Arg	missense variant	-	NC_000015.10:g.88845718C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile424Met	missense variant	-	NC_000015.10:g.88845725A>G	NCI-TCGA
NCI-TCGA novel	p.Ala426Thr	missense variant	-	NC_000015.10:g.88845729G>A	NCI-TCGA
NCI-TCGA novel	p.Ala426Val	missense variant	-	NC_000015.10:g.88845730C>T	NCI-TCGA
rs1046914898	p.Thr427Ile	missense variant	-	NC_000015.10:g.88845733C>T	TOPMed,gnomAD
rs748112955	p.Thr427Ala	missense variant	-	NC_000015.10:g.88845732A>G	ExAC,TOPMed,gnomAD
rs975263307	p.Phe429Leu	missense variant	-	NC_000015.10:g.88845738T>C	TOPMed,gnomAD
rs367659235	p.Ala430Ser	missense variant	-	NC_000015.10:g.88845741G>T	ESP,ExAC,TOPMed,gnomAD
rs367659235	p.Ala430Thr	missense variant	-	NC_000015.10:g.88845741G>A	ESP,ExAC,TOPMed,gnomAD
rs1403501275	p.Glu431Lys	missense variant	-	NC_000015.10:g.88845744G>A	gnomAD
rs770670042	p.Val432Phe	missense variant	-	NC_000015.10:g.88845747G>T	ExAC,gnomAD
rs372157525	p.Glu433Asp	missense variant	-	NC_000015.10:g.88845752G>C	ExAC,TOPMed,gnomAD
rs776371059	p.Glu433Lys	missense variant	-	NC_000015.10:g.88845750G>A	ExAC,TOPMed,gnomAD
COSM1478445	p.Glu435Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.88845756G>T	NCI-TCGA Cosmic
rs995483050	p.Thr436Ser	missense variant	-	NC_000015.10:g.88845759A>T	TOPMed
COSM702215	p.Gly437Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88845763G>A	NCI-TCGA Cosmic
rs1026505771	p.Glu438Gly	missense variant	-	NC_000015.10:g.88845766A>G	TOPMed
rs1400771992	p.Arg441Thr	missense variant	-	NC_000015.10:g.88845775G>C	gnomAD
NCI-TCGA novel	p.Pro446Ser	missense variant	-	NC_000015.10:g.88845789C>T	NCI-TCGA
rs764796784	p.Thr447Ile	missense variant	-	NC_000015.10:g.88845793C>T	ExAC,gnomAD
rs1324712408	p.Thr447Ala	missense variant	-	NC_000015.10:g.88845792A>G	gnomAD
rs532736974	p.Pro448Thr	missense variant	-	NC_000015.10:g.88845795C>A	1000Genomes,ExAC,gnomAD
rs372274447	p.Gly451Ser	missense variant	-	NC_000015.10:g.88845804G>A	ESP,ExAC,TOPMed,gnomAD
rs764588967	p.Gly451Ala	missense variant	-	NC_000015.10:g.88845805G>C	ExAC,TOPMed,gnomAD
COSM4057702	p.Gly451Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88845805G>A	NCI-TCGA Cosmic
rs372274447	p.Gly451Arg	missense variant	-	NC_000015.10:g.88845804G>C	ESP,ExAC,TOPMed,gnomAD
rs1488419679	p.Pro452Leu	missense variant	-	NC_000015.10:g.88845808C>T	gnomAD
NCI-TCGA novel	p.Ala453Val	missense variant	-	NC_000015.10:g.88845811C>T	NCI-TCGA
rs575245223	p.Thr454Met	missense variant	-	NC_000015.10:g.88845814C>T	ExAC,TOPMed,gnomAD
rs1218272397	p.Thr454Pro	missense variant	-	NC_000015.10:g.88845813A>C	TOPMed,gnomAD
rs924968633	p.Ala455Thr	missense variant	-	NC_000015.10:g.88845816G>A	TOPMed
rs181736584	p.Phe456Leu	missense variant	-	NC_000015.10:g.88845819T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000761918	p.Phe456Leu	missense variant	-	NC_000015.10:g.88845819T>C	ClinVar
rs780169895	p.Ser458Gly	missense variant	-	NC_000015.10:g.88845825A>G	ExAC,gnomAD
rs1394799848	p.Glu459Lys	missense variant	-	NC_000015.10:g.88845828G>A	gnomAD
rs1323126627	p.Asp460Asn	missense variant	-	NC_000015.10:g.88845831G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp460Gly	missense variant	-	NC_000015.10:g.88845832A>G	NCI-TCGA
rs749341648	p.Leu461Phe	missense variant	-	NC_000015.10:g.88845834C>T	ExAC,gnomAD
rs200734577	p.Val462Ile	missense variant	-	NC_000015.10:g.88845837G>A	ExAC,TOPMed,gnomAD
rs200734577	p.Val462Phe	missense variant	-	NC_000015.10:g.88845837G>T	ExAC,TOPMed,gnomAD
rs777892697	p.Val463Met	missense variant	-	NC_000015.10:g.88845840G>A	ExAC,TOPMed,gnomAD
rs777892697	p.Val463Leu	missense variant	-	NC_000015.10:g.88845840G>C	ExAC,TOPMed,gnomAD
rs761237568	p.Val465Leu	missense variant	-	NC_000015.10:g.88845846G>T	TOPMed,gnomAD
rs761237568	p.Val465Met	missense variant	-	NC_000015.10:g.88845846G>A	TOPMed,gnomAD
rs770829348	p.Ala467Ser	missense variant	-	NC_000015.10:g.88845852G>T	ExAC,TOPMed,gnomAD
rs770829348	p.Ala467Thr	missense variant	-	NC_000015.10:g.88845852G>A	ExAC,TOPMed,gnomAD
rs1354095381	p.Pro469Ser	missense variant	-	NC_000015.10:g.88845858C>T	gnomAD
rs749892328	p.Gly470Val	missense variant	-	NC_000015.10:g.88845862G>T	ExAC,gnomAD
rs749892328	p.Gly470Glu	missense variant	-	NC_000015.10:g.88845862G>A	ExAC,gnomAD
rs1242006485	p.Gly470Arg	missense variant	-	NC_000015.10:g.88845861G>A	gnomAD
rs759209767	p.Gln471Lys	missense variant	-	NC_000015.10:g.88845864C>A	ExAC,TOPMed,gnomAD
rs774993574	p.His473Asn	missense variant	-	NC_000015.10:g.88845870C>A	ExAC,gnomAD
rs774993574	p.His473Tyr	missense variant	-	NC_000015.10:g.88845870C>T	ExAC,gnomAD
rs1470231901	p.Leu474Phe	missense variant	-	NC_000015.10:g.88845875G>T	gnomAD
rs1192253318	p.Pro475Leu	missense variant	-	NC_000015.10:g.88845877C>T	gnomAD
rs1160808564	p.Gly476Glu	missense variant	-	NC_000015.10:g.88845880G>A	gnomAD
rs1440750025	p.Gly476Arg	missense variant	-	NC_000015.10:g.88845879G>A	gnomAD
rs748987964	p.Val478Phe	missense variant	-	NC_000015.10:g.88847245G>T	ExAC,TOPMed,gnomAD
RCV000508978	p.Val478Ter	frameshift	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88845878del	ClinVar
rs369608360	p.Val479Ile	missense variant	-	NC_000015.10:g.88847248G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369608360	p.Val479Ile	missense variant	-	NC_000015.10:g.88847248G>A	NCI-TCGA,NCI-TCGA Cosmic
rs773918941	p.Phe480Leu	missense variant	-	NC_000015.10:g.88847253C>G	ExAC,gnomAD
rs1232219601	p.His481Arg	missense variant	-	NC_000015.10:g.88847255A>G	gnomAD
rs1353163798	p.His481Tyr	missense variant	-	NC_000015.10:g.88847254C>T	gnomAD
rs200950723	p.Arg483His	missense variant	-	NC_000015.10:g.88847261G>A	ESP,ExAC,TOPMed,gnomAD
RCV000593515	p.Arg483His	missense variant	-	NC_000015.10:g.88847261G>A	ClinVar
rs780424423	p.Arg483Cys	missense variant	-	NC_000015.10:g.88847260C>T	ExAC,TOPMed,gnomAD
rs1004496493	p.Pro484Leu	missense variant	-	NC_000015.10:g.88847264C>T	TOPMed,gnomAD
rs1201362860	p.Gly485Arg	missense variant	-	NC_000015.10:g.88847266G>C	TOPMed,gnomAD
rs1201362860	p.Gly485Arg	missense variant	-	NC_000015.10:g.88847266G>A	TOPMed,gnomAD
rs1259949509	p.Pro486Ser	missense variant	-	NC_000015.10:g.88847269C>T	gnomAD
rs1474348398	p.Thr487Pro	missense variant	-	NC_000015.10:g.88847272A>C	gnomAD
rs202205582	p.Arg488Leu	missense variant	-	NC_000015.10:g.88847276G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1016252040	p.Arg488Cys	missense variant	-	NC_000015.10:g.88847275C>T	TOPMed
rs202205582	p.Arg488His	missense variant	-	NC_000015.10:g.88847276G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1168184102	p.Tyr489Cys	missense variant	-	NC_000015.10:g.88847279A>G	gnomAD
rs1372399305	p.Ser490Thr	missense variant	-	NC_000015.10:g.88847281T>A	TOPMed,gnomAD
rs117116488	p.Ser490Leu	missense variant	-	NC_000015.10:g.88847282C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117116488	p.Ser490Trp	missense variant	-	NC_000015.10:g.88847282C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1372399305	p.Ser490Pro	missense variant	-	NC_000015.10:g.88847281T>C	TOPMed,gnomAD
rs1413724932	p.Phe493Leu	missense variant	-	NC_000015.10:g.88847290T>C	gnomAD
rs1298299806	p.Glu494Lys	missense variant	-	NC_000015.10:g.88847293G>A	gnomAD
rs538870253	p.Glu495Val	missense variant	-	NC_000015.10:g.88847297A>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM6143200	p.Glu495Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88847298G>T	NCI-TCGA Cosmic
rs755294223	p.Glu495Lys	missense variant	-	NC_000015.10:g.88847296G>A	ExAC,gnomAD
rs538870253	p.Glu495Gly	missense variant	-	NC_000015.10:g.88847297A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs117881662	p.Gln497Leu	missense variant	-	NC_000015.10:g.88847303A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs117881662	p.Gln497Arg	missense variant	-	NC_000015.10:g.88847303A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1307410110	p.Gln498Arg	missense variant	-	NC_000015.10:g.88847306A>G	TOPMed,gnomAD
rs757190295	p.Ala499Asp	missense variant	-	NC_000015.10:g.88847309C>A	ExAC,TOPMed,gnomAD
rs757190295	p.Ala499Val	missense variant	-	NC_000015.10:g.88847309C>T	ExAC,TOPMed,gnomAD
rs1234512437	p.Ala499Ser	missense variant	-	NC_000015.10:g.88847308G>T	gnomAD
rs1018758817	p.Leu501Gln	missense variant	-	NC_000015.10:g.88847315T>A	TOPMed
rs149841431	p.Arg502Cys	missense variant	-	NC_000015.10:g.88847317C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144835580	p.Arg502Pro	missense variant	-	NC_000015.10:g.88847318G>C	1000Genomes,ExAC,gnomAD
rs144835580	p.Arg502Leu	missense variant	-	NC_000015.10:g.88847318G>T	1000Genomes,ExAC,gnomAD
rs144835580	p.Arg502His	missense variant	-	NC_000015.10:g.88847318G>A	1000Genomes,ExAC,gnomAD
rs149841431	p.Arg502Ser	missense variant	-	NC_000015.10:g.88847317C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374406298	p.Thr503Ser	missense variant	-	NC_000015.10:g.88847320A>T	ExAC,TOPMed,gnomAD
rs779937883	p.Thr503Arg	missense variant	-	NC_000015.10:g.88847321C>G	ExAC,TOPMed,gnomAD
rs779937883	p.Thr503Lys	missense variant	-	NC_000015.10:g.88847321C>A	ExAC,TOPMed,gnomAD
rs779937883	p.Thr503Met	missense variant	-	NC_000015.10:g.88847321C>T	ExAC,TOPMed,gnomAD
rs924521785	p.Gly504Trp	missense variant	-	NC_000015.10:g.88847323G>T	TOPMed,gnomAD
rs1175296986	p.Ala505Ser	missense variant	-	NC_000015.10:g.88847326G>T	gnomAD
rs887656896	p.Ala505Glu	missense variant	-	NC_000015.10:g.88847327C>A	TOPMed,gnomAD
rs887656896	p.Ala505Val	missense variant	-	NC_000015.10:g.88847327C>T	TOPMed,gnomAD
rs887656896	p.Ala505Val	missense variant	-	NC_000015.10:g.88847327C>T	NCI-TCGA Cosmic
rs773794233	p.Ser509Trp	missense variant	-	NC_000015.10:g.88847339C>G	ExAC,TOPMed,gnomAD
rs773794233	p.Ser509Leu	missense variant	-	NC_000015.10:g.88847339C>T	ExAC,TOPMed,gnomAD
rs1428109216	p.Pro510Leu	missense variant	-	NC_000015.10:g.88847342C>T	TOPMed,gnomAD
rs773619196	p.Glu511Lys	missense variant	-	NC_000015.10:g.88847344G>A	ExAC,gnomAD
rs761297861	p.Gln512His	missense variant	-	NC_000015.10:g.88847349G>T	ExAC,gnomAD
rs540361430	p.Ala516Thr	missense variant	-	NC_000015.10:g.88847359G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs540361430	p.Ala516Thr	missense variant	-	NC_000015.10:g.88847359G>A	NCI-TCGA,NCI-TCGA Cosmic
rs564985995	p.Ala516Val	missense variant	-	NC_000015.10:g.88847360C>T	1000Genomes,ExAC,gnomAD
rs759770403	p.Tyr517Ser	missense variant	-	NC_000015.10:g.88847363A>C	ExAC,gnomAD
rs759770403	p.Tyr517Cys	missense variant	-	NC_000015.10:g.88847363A>G	ExAC,gnomAD
rs267604363	p.Glu518Lys	missense variant	-	NC_000015.10:g.88847365G>A	ExAC,TOPMed,gnomAD
rs267604363	p.Glu518Gln	missense variant	-	NC_000015.10:g.88847365G>C	ExAC,TOPMed,gnomAD
rs1488779040	p.Ala519Thr	missense variant	-	NC_000015.10:g.88847368G>A	gnomAD
rs764283130	p.Ala519Gly	missense variant	-	NC_000015.10:g.88847369C>G	ExAC,TOPMed,gnomAD
rs756140760	p.Gly520Asp	missense variant	-	NC_000015.10:g.88847372G>A	ExAC,TOPMed,gnomAD
rs1179005751	p.Tyr521Cys	missense variant	-	NC_000015.10:g.88847375A>G	gnomAD
rs754558595	p.Gln523His	missense variant	-	NC_000015.10:g.88847382G>C	ExAC,gnomAD
rs372777485	p.Gln523Glu	missense variant	-	NC_000015.10:g.88847380C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753649277	p.Gln523Leu	missense variant	-	NC_000015.10:g.88847381A>T	ExAC,gnomAD
rs753649277	p.Gln523Pro	missense variant	-	NC_000015.10:g.88847381A>C	ExAC,gnomAD
rs1349909950	p.Cys524Phe	missense variant	-	NC_000015.10:g.88847384G>T	gnomAD
rs1462460798	p.Cys524Ter	stop gained	-	NC_000015.10:g.88847385T>A	gnomAD
rs367724066	p.Asp525Glu	missense variant	-	NC_000015.10:g.88847388C>G	ESP,ExAC,TOPMed,gnomAD
rs771465769	p.Ala526Thr	missense variant	-	NC_000015.10:g.88847389G>A	ExAC,TOPMed,gnomAD
rs1440707959	p.Ala526Asp	missense variant	-	NC_000015.10:g.88847390C>A	TOPMed,gnomAD
rs771465769	p.Ala526Pro	missense variant	-	NC_000015.10:g.88847389G>C	ExAC,TOPMed,gnomAD
rs747469866	p.Gly527Ser	missense variant	-	NC_000015.10:g.88847392G>A	ExAC,gnomAD
rs747469866	p.Gly527Cys	missense variant	-	NC_000015.10:g.88847392G>T	ExAC,gnomAD
rs771478914	p.Gly527Asp	missense variant	-	NC_000015.10:g.88847393G>A	ExAC,gnomAD
rs777066916	p.Arg530Trp	missense variant	-	NC_000015.10:g.88847401C>T	ExAC,TOPMed,gnomAD
rs544077619	p.Arg530Gln	missense variant	-	NC_000015.10:g.88847402G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs777066916	p.Arg530Trp	missense variant	-	NC_000015.10:g.88847401C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1215608729	p.Asp531Asn	missense variant	-	NC_000015.10:g.88847404G>A	gnomAD
rs965946120	p.Asp531Gly	missense variant	-	NC_000015.10:g.88847405A>G	gnomAD
rs775831150	p.Gln532His	missense variant	-	NC_000015.10:g.88847409G>C	ExAC,TOPMed,gnomAD
rs764074781	p.Val534Ile	missense variant	-	NC_000015.10:g.88847413G>A	ExAC,TOPMed,gnomAD
rs768937241	p.Pro537Ser	missense variant	-	NC_000015.10:g.88847915C>T	ExAC,gnomAD
rs1346158582	p.Ser540Asn	missense variant	-	NC_000015.10:g.88847925G>A	TOPMed
rs151237327	p.Arg542Gln	missense variant	-	NC_000015.10:g.88847931G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs143697605	p.Arg542Gly	missense variant	-	NC_000015.10:g.88847930C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs143697605	p.Arg542Trp	missense variant	-	NC_000015.10:g.88847930C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs143697605	p.Arg542Trp	missense variant	-	NC_000015.10:g.88847930C>T	NCI-TCGA,NCI-TCGA Cosmic
rs765015015	p.Pro544Leu	missense variant	-	NC_000015.10:g.88847937C>T	ExAC,gnomAD
rs759515019	p.Pro544Ser	missense variant	-	NC_000015.10:g.88847936C>T	ExAC,gnomAD
rs62640041	p.Val546Met	missense variant	-	NC_000015.10:g.88847942G>A	TOPMed,gnomAD
rs62640041	p.Val546Leu	missense variant	-	NC_000015.10:g.88847942G>T	TOPMed,gnomAD
rs62640041	p.Val546Met	missense variant	-	NC_000015.10:g.88847942G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM3887710	p.Asp548Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88847948G>A	NCI-TCGA Cosmic
COSM4057704	p.Lys549Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88847952A>C	NCI-TCGA Cosmic
rs1349626660	p.Pro553Arg	missense variant	-	NC_000015.10:g.88847964C>G	TOPMed,gnomAD
rs1349626660	p.Pro553Leu	missense variant	-	NC_000015.10:g.88847964C>T	TOPMed,gnomAD
rs763836625	p.Val555Ile	missense variant	-	NC_000015.10:g.88847969G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val555GlyPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.88847965_88847966insG	NCI-TCGA
rs750979692	p.Arg556Trp	missense variant	-	NC_000015.10:g.88847972A>T	ExAC,TOPMed,gnomAD
rs532546900	p.Tyr558Cys	missense variant	-	NC_000015.10:g.88847979A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs756802171	p.Tyr558His	missense variant	-	NC_000015.10:g.88847978T>C	ExAC
COSM3505097	p.Tyr558Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88847979A>T	NCI-TCGA Cosmic
rs373952066	p.Gly559Cys	missense variant	-	NC_000015.10:g.88847981G>T	ESP,ExAC,TOPMed,gnomAD
rs770141611	p.Val560Met	missense variant	-	NC_000015.10:g.88847984G>A	ExAC,TOPMed,gnomAD
rs770141611	p.Val560Met	missense variant	-	NC_000015.10:g.88847984G>A	NCI-TCGA,NCI-TCGA Cosmic
rs780224333	p.Arg561Cys	missense variant	-	NC_000015.10:g.88847987C>T	ExAC,TOPMed,gnomAD
rs376881991	p.Arg561Leu	missense variant	-	NC_000015.10:g.88847988G>T	ESP,ExAC,TOPMed,gnomAD
rs376881991	p.Arg561His	missense variant	-	NC_000015.10:g.88847988G>A	ESP,ExAC,TOPMed,gnomAD
rs780224333	p.Arg561Cys	missense variant	-	NC_000015.10:g.88847987C>T	NCI-TCGA,NCI-TCGA Cosmic
rs748369134	p.Pro562Ala	missense variant	-	NC_000015.10:g.88847990C>G	ExAC,TOPMed,gnomAD
rs551134605	p.Ser563Pro	missense variant	-	NC_000015.10:g.88847993T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr564Ala	missense variant	-	NC_000015.10:g.88847996A>G	NCI-TCGA
rs569388356	p.Glu565Gly	missense variant	-	NC_000015.10:g.88848000A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1382905147	p.Glu565Lys	missense variant	-	NC_000015.10:g.88847999G>A	gnomAD
rs759458195	p.Thr566Ile	missense variant	-	NC_000015.10:g.88848003C>T	ExAC,gnomAD
rs775104367	p.Asp568Asn	missense variant	-	NC_000015.10:g.88848008G>A	ExAC,TOPMed,gnomAD
rs762824937	p.Tyr570His	missense variant	-	NC_000015.10:g.88848014T>C	ExAC,TOPMed,gnomAD
COSM3505099	p.Tyr570Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88848015A>G	NCI-TCGA Cosmic
rs763839982	p.Val573Gly	missense variant	-	NC_000015.10:g.88848024T>G	ExAC,gnomAD
rs757037237	p.Leu576Phe	missense variant	-	NC_000015.10:g.88848032C>T	ExAC,gnomAD
rs767120823	p.Glu577Gly	missense variant	-	NC_000015.10:g.88848036A>G	ExAC,TOPMed
rs767120823	p.Glu577Ala	missense variant	-	NC_000015.10:g.88848036A>C	ExAC,TOPMed
rs1281450365	p.Glu577Ter	stop gained	-	NC_000015.10:g.88848035G>T	gnomAD
NCI-TCGA novel	p.Glu577Gln	missense variant	-	NC_000015.10:g.88848035G>C	NCI-TCGA
rs758553258	p.Glu579Lys	missense variant	-	NC_000015.10:g.88849440G>A	ExAC,gnomAD
rs1337604481	p.Val580Leu	missense variant	-	NC_000015.10:g.88849443G>T	gnomAD
RCV000508979	p.Phe582Ter	frameshift	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88849450del	ClinVar
rs377338540	p.Ala583Asp	missense variant	-	NC_000015.10:g.88849453C>A	ESP,ExAC,gnomAD
rs747278710	p.Ala583Thr	missense variant	-	NC_000015.10:g.88849452G>A	ExAC,TOPMed,gnomAD
rs375567241	p.Arg585His	missense variant	-	NC_000015.10:g.88849459G>A	ESP,ExAC,TOPMed,gnomAD
rs144501729	p.Arg585Cys	missense variant	-	NC_000015.10:g.88849458C>T	NCI-TCGA,NCI-TCGA Cosmic
COSM1375261	p.Arg585Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849459G>T	NCI-TCGA Cosmic
rs144501729	p.Arg585Ser	missense variant	-	NC_000015.10:g.88849458C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144501729	p.Arg585Cys	missense variant	-	NC_000015.10:g.88849458C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761732451	p.Leu586Phe	missense variant	-	NC_000015.10:g.88849461C>T	ExAC,gnomAD
rs761732451	p.Leu586Phe	missense variant	-	NC_000015.10:g.88849461C>T	NCI-TCGA,NCI-TCGA Cosmic
rs546076896	p.Leu586Arg	missense variant	-	NC_000015.10:g.88849462T>G	1000Genomes
rs771802121	p.Glu587Lys	missense variant	-	NC_000015.10:g.88849464G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu587Gln	missense variant	-	NC_000015.10:g.88849464G>C	NCI-TCGA
rs772978689	p.Gln588Arg	missense variant	-	NC_000015.10:g.88849468A>G	ExAC,gnomAD
rs772978689	p.Gln588Pro	missense variant	-	NC_000015.10:g.88849468A>C	ExAC,gnomAD
rs1164048792	p.Ala594Thr	missense variant	-	NC_000015.10:g.88849485G>A	gnomAD
rs765912431	p.Leu595Val	missense variant	-	NC_000015.10:g.88849488C>G	ExAC,TOPMed,gnomAD
rs1296237665	p.Leu595Pro	missense variant	-	NC_000015.10:g.88849489T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu595Arg	missense variant	-	NC_000015.10:g.88849489T>G	NCI-TCGA
rs753349925	p.Glu596Lys	missense variant	-	NC_000015.10:g.88849491G>A	ExAC,gnomAD
rs1414960893	p.Glu596Asp	missense variant	-	NC_000015.10:g.88849493G>C	gnomAD
rs753349925	p.Glu596Lys	missense variant	-	NC_000015.10:g.88849491G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1314202727	p.Phe597Tyr	missense variant	-	NC_000015.10:g.88849495T>A	gnomAD
NCI-TCGA novel	p.Phe597Ile	missense variant	-	NC_000015.10:g.88849494T>A	NCI-TCGA
rs1407908678	p.Glu599Asp	missense variant	-	NC_000015.10:g.88849502A>C	TOPMed,gnomAD
rs760034910	p.Glu599Lys	missense variant	-	NC_000015.10:g.88849500G>A	ExAC,gnomAD
rs765671060	p.Asn602Lys	missense variant	-	NC_000015.10:g.88849511T>G	ExAC,TOPMed,gnomAD
rs1312703452	p.Ala603Thr	missense variant	-	NC_000015.10:g.88849512G>A	TOPMed,gnomAD
rs1463722385	p.Ala603Val	missense variant	-	NC_000015.10:g.88849513C>T	TOPMed
rs1312703452	p.Ala603Ser	missense variant	-	NC_000015.10:g.88849512G>T	TOPMed,gnomAD
rs758736365	p.Thr604Met	missense variant	-	NC_000015.10:g.88849516C>T	ExAC,TOPMed,gnomAD
rs758736365	p.Thr604Arg	missense variant	-	NC_000015.10:g.88849516C>G	ExAC,TOPMed,gnomAD
rs758736365	p.Thr604Arg	missense variant	-	NC_000015.10:g.88849516C>G	NCI-TCGA
rs1301236820	p.Ala606Pro	missense variant	-	NC_000015.10:g.88849521G>C	gnomAD
rs757476544	p.Ala606Gly	missense variant	-	NC_000015.10:g.88849522C>G	ExAC,gnomAD
rs949781604	p.Thr607Ser	missense variant	-	NC_000015.10:g.88849524A>T	TOPMed
rs1259839311	p.Thr608Met	missense variant	-	NC_000015.10:g.88849528C>T	TOPMed,gnomAD
COSM6078109	p.Thr608Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849528C>A	NCI-TCGA Cosmic
rs868746592	p.Gly609Asp	missense variant	-	NC_000015.10:g.88849531G>A	gnomAD
rs1430169560	p.Leu611Ile	missense variant	-	NC_000015.10:g.88849536C>A	gnomAD
rs377219636	p.Ala613Thr	missense variant	-	NC_000015.10:g.88849542G>A	ExAC,TOPMed,gnomAD
rs771963700	p.Ala614Ser	missense variant	-	NC_000015.10:g.88849545G>T	ExAC,TOPMed,gnomAD
rs771963700	p.Ala614Thr	missense variant	-	NC_000015.10:g.88849545G>A	ExAC,TOPMed,gnomAD
rs770505276	p.Ser616Asn	missense variant	-	NC_000015.10:g.88849552G>A	ExAC,gnomAD
rs34616796	p.Arg617His	missense variant	-	NC_000015.10:g.88849555G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000402797	p.Arg617His	missense variant	-	NC_000015.10:g.88849555G>A	ClinVar
rs776144534	p.Arg617Cys	missense variant	-	NC_000015.10:g.88849554C>T	ExAC,TOPMed,gnomAD
rs1293914813	p.Gly618Asp	missense variant	-	NC_000015.10:g.88849558G>A	gnomAD
rs1310094175	p.Asp620Asn	missense variant	-	NC_000015.10:g.88849563G>A	TOPMed
rs1209512221	p.Ala624Thr	missense variant	-	NC_000015.10:g.88849575G>A	TOPMed,gnomAD
rs148018909	p.Gly625Cys	missense variant	-	NC_000015.10:g.88849578G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148018909	p.Gly625Ser	missense variant	-	NC_000015.10:g.88849578G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs929801867	p.Gly625Asp	missense variant	-	NC_000015.10:g.88849579G>A	TOPMed,gnomAD
rs148018909	p.Gly625Ser	missense variant	-	NC_000015.10:g.88849578G>A	NCI-TCGA
rs929801867	p.Gly625Val	missense variant	-	NC_000015.10:g.88849579G>T	TOPMed,gnomAD
rs200412974	p.Ala628Thr	missense variant	-	NC_000015.10:g.88849587G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs891232104	p.Ala628Asp	missense variant	-	NC_000015.10:g.88849588C>A	TOPMed
rs369864209	p.Asp629Asn	missense variant	-	NC_000015.10:g.88849590G>A	NCI-TCGA,NCI-TCGA Cosmic
rs369864209	p.Asp629Asn	missense variant	-	NC_000015.10:g.88849590G>A	ESP,ExAC,TOPMed,gnomAD
rs780323898	p.Gly630Ser	missense variant	-	NC_000015.10:g.88849593G>A	ExAC,TOPMed,gnomAD
rs35965913	p.Arg633Pro	missense variant	-	NC_000015.10:g.88849603G>C	ESP,ExAC,TOPMed,gnomAD
rs35965913	p.Arg633His	missense variant	-	NC_000015.10:g.88849603G>A	ESP,ExAC,TOPMed,gnomAD
rs758471993	p.Arg633Cys	missense variant	-	NC_000015.10:g.88849602C>T	ExAC,gnomAD
COSM3887712	p.Pro635Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849608C>T	NCI-TCGA Cosmic
rs1270870334	p.Ile636Val	missense variant	-	NC_000015.10:g.88849611A>G	TOPMed
NCI-TCGA novel	p.Ile636Met	missense variant	-	NC_000015.10:g.88849613C>G	NCI-TCGA
rs770581471	p.Val637Ile	missense variant	-	NC_000015.10:g.88849614G>A	ExAC,TOPMed,gnomAD
rs770581471	p.Val637Ile	missense variant	-	NC_000015.10:g.88849614G>A	NCI-TCGA,NCI-TCGA Cosmic
rs776122536	p.Thr638Asn	missense variant	-	NC_000015.10:g.88849618C>A	ExAC,gnomAD
rs776122536	p.Thr638Ile	missense variant	-	NC_000015.10:g.88849618C>T	ExAC,gnomAD
rs769287861	p.Pro639Thr	missense variant	-	NC_000015.10:g.88849620C>A	NCI-TCGA
rs769287861	p.Pro639Thr	missense variant	-	NC_000015.10:g.88849620C>A	ExAC,gnomAD
rs769287861	p.Pro639Ser	missense variant	-	NC_000015.10:g.88849620C>T	ExAC,gnomAD
rs763391616	p.Arg640Ser	missense variant	-	NC_000015.10:g.88849625G>C	ExAC,TOPMed,gnomAD
rs1213712769	p.Arg640Lys	missense variant	-	NC_000015.10:g.88849624G>A	gnomAD
rs1185058684	p.Ala642Val	missense variant	-	NC_000015.10:g.88849630C>T	gnomAD
rs764586930	p.Cys643Arg	missense variant	-	NC_000015.10:g.88849632T>C	ExAC,TOPMed,gnomAD
rs762106035	p.Gly644Cys	missense variant	-	NC_000015.10:g.88849635G>T	ExAC,TOPMed,gnomAD
rs1477509378	p.Gly644Asp	missense variant	-	NC_000015.10:g.88849636G>A	gnomAD
rs762106035	p.Gly644Arg	missense variant	-	NC_000015.10:g.88849635G>C	ExAC,TOPMed,gnomAD
rs762106035	p.Gly644Ser	missense variant	-	NC_000015.10:g.88849635G>A	ExAC,TOPMed,gnomAD
rs750579987	p.Gly645Val	missense variant	-	NC_000015.10:g.88849639G>T	NCI-TCGA,NCI-TCGA Cosmic
rs750579987	p.Gly645Val	missense variant	-	NC_000015.10:g.88849639G>T	ExAC,gnomAD
rs201414869	p.Val650Met	missense variant	-	NC_000015.10:g.88849653G>A	ESP,ExAC,TOPMed,gnomAD
rs753982782	p.Arg651Gly	missense variant	-	NC_000015.10:g.88849656A>G	ExAC
rs373373120	p.Thr652Met	missense variant	-	NC_000015.10:g.88849660C>T	ESP,ExAC,TOPMed,gnomAD
rs1328377356	p.Val653Ile	missense variant	-	NC_000015.10:g.88849662G>A	gnomAD
rs1296752392	p.Val653Ala	missense variant	-	NC_000015.10:g.88849663T>C	TOPMed
rs1399881778	p.Tyr654His	missense variant	-	NC_000015.10:g.88849665T>C	TOPMed
rs746773847	p.Leu655Phe	missense variant	-	NC_000015.10:g.88849668C>T	ExAC,TOPMed,gnomAD
rs983625315	p.Tyr656Cys	missense variant	-	NC_000015.10:g.88849672A>G	gnomAD
rs1222143874	p.Pro657Ala	missense variant	-	NC_000015.10:g.88849674C>G	gnomAD
COSM4057710	p.Pro657Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849674C>T	NCI-TCGA Cosmic
rs1454877447	p.Pro657Leu	missense variant	-	NC_000015.10:g.88849675C>T	TOPMed
rs370283261	p.Asn658Ser	missense variant	-	NC_000015.10:g.88849678A>G	ExAC,TOPMed,gnomAD
rs374239823	p.Gln659Arg	missense variant	-	NC_000015.10:g.88849681A>G	ESP,ExAC,TOPMed,gnomAD
rs181923062	p.Gln659Glu	missense variant	-	NC_000015.10:g.88849680C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs141628105	p.Thr660Met	missense variant	-	NC_000015.10:g.88849684C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1450868991	p.Thr660Ala	missense variant	-	NC_000015.10:g.88849683A>G	gnomAD
rs774699509	p.Gly661Asp	missense variant	-	NC_000015.10:g.88849687G>A	ExAC,gnomAD
rs772320528	p.Leu662Val	missense variant	-	NC_000015.10:g.88849689C>G	ExAC,gnomAD
rs772320528	p.Leu662Phe	missense variant	-	NC_000015.10:g.88849689C>T	ExAC,gnomAD
rs773685275	p.Leu662Arg	missense variant	-	NC_000015.10:g.88849690T>G	ExAC,TOPMed,gnomAD
COSM4429394	p.Pro663Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849693C>A	NCI-TCGA Cosmic
rs1482313715	p.Asp664Val	missense variant	-	NC_000015.10:g.88849696A>T	TOPMed
rs971199372	p.Asp664Glu	missense variant	-	NC_000015.10:g.88849697C>G	TOPMed
COSM6078107	p.Asp664Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88849695G>T	NCI-TCGA Cosmic
rs760924730	p.Ser667Ala	missense variant	-	NC_000015.10:g.88849704T>G	ExAC,gnomAD
rs766715171	p.Arg668Gly	missense variant	-	NC_000015.10:g.88849707C>G	ExAC,TOPMed,gnomAD
rs77572130	p.Arg668Gln	missense variant	-	NC_000015.10:g.88849708G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766715171	p.Arg668Trp	missense variant	-	NC_000015.10:g.88849707C>T	ExAC,TOPMed,gnomAD
rs77572130	p.Arg668Leu	missense variant	-	NC_000015.10:g.88849708G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs765394408	p.His669Gln	missense variant	-	NC_000015.10:g.88849712C>A	ExAC,gnomAD
rs1408176320	p.His670Asn	missense variant	-	NC_000015.10:g.88849713C>A	TOPMed,gnomAD
rs751443753	p.Ala671Val	missense variant	-	NC_000015.10:g.88849717C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe672Leu	missense variant	-	NC_000015.10:g.88849721C>A	NCI-TCGA
rs35102652	p.Arg675Gln	missense variant	-	NC_000015.10:g.88849729G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35102652	p.Arg675Leu	missense variant	-	NC_000015.10:g.88849729G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs982136432	p.Gly676Asp	missense variant	-	NC_000015.10:g.88851794G>A	gnomAD
rs367992413	p.Ala679Val	missense variant	-	NC_000015.10:g.88851803C>T	ESP,ExAC,TOPMed,gnomAD
rs1263282660	p.Ala679Thr	missense variant	-	NC_000015.10:g.88851802G>A	gnomAD
rs377059310	p.Val680Phe	missense variant	-	NC_000015.10:g.88851805G>T	ESP,ExAC,TOPMed,gnomAD
rs1438546147	p.Pro681Ser	missense variant	-	NC_000015.10:g.88851808C>T	TOPMed,gnomAD
rs1472286074	p.Gly684Ala	missense variant	-	NC_000015.10:g.88851818G>C	TOPMed,gnomAD
rs1472286074	p.Gly684Val	missense variant	-	NC_000015.10:g.88851818G>T	TOPMed,gnomAD
rs1472286074	p.Gly684Glu	missense variant	-	NC_000015.10:g.88851818G>A	TOPMed,gnomAD
rs1165623096	p.Glu686Lys	missense variant	-	NC_000015.10:g.88851823G>A	gnomAD
NCI-TCGA novel	p.Glu687Gln	missense variant	-	NC_000015.10:g.88851826G>C	NCI-TCGA
rs1227426027	p.Gly688Ser	missense variant	-	NC_000015.10:g.88851829G>A	TOPMed
rs764128416	p.Gly689Val	missense variant	-	NC_000015.10:g.88851833G>T	ExAC,TOPMed,gnomAD
rs764128416	p.Gly689Asp	missense variant	-	NC_000015.10:g.88851833G>A	ExAC,TOPMed,gnomAD
rs1340826290	p.Gly689Ser	missense variant	-	NC_000015.10:g.88851832G>A	TOPMed
rs1162362074	p.Pro691Thr	missense variant	-	NC_000015.10:g.88851838C>A	gnomAD
rs773102587	p.Thr692Pro	missense variant	-	NC_000015.10:g.88851841A>C	ExAC,TOPMed,gnomAD
rs1361963398	p.Ser693Leu	missense variant	-	NC_000015.10:g.88851845C>T	gnomAD
rs1305675214	p.Pro694Ser	missense variant	-	NC_000015.10:g.88851847C>T	gnomAD
rs766150369	p.Pro694Leu	missense variant	-	NC_000015.10:g.88851848C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly696Cys	missense variant	-	NC_000015.10:g.88851853G>T	NCI-TCGA
rs1294504768	p.Val697Met	missense variant	-	NC_000015.10:g.88851856G>A	gnomAD
rs370096577	p.Val702Met	missense variant	-	NC_000015.10:g.88851871G>A	ESP,ExAC,TOPMed,gnomAD
rs1265173614	p.Gln704His	missense variant	-	NC_000015.10:g.88851879A>T	gnomAD
rs1296375306	p.Val705Met	missense variant	-	NC_000015.10:g.88851880G>A	TOPMed
rs35120858	p.Gly708Ser	missense variant	-	NC_000015.10:g.88851889G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35120858	p.Gly708Arg	missense variant	-	NC_000015.10:g.88851889G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1482802691	p.Val709Met	missense variant	-	NC_000015.10:g.88851892G>A	gnomAD
NCI-TCGA novel	p.Ala710Thr	missense variant	-	NC_000015.10:g.88851895G>A	NCI-TCGA
rs1188739281	p.Ala711Thr	missense variant	-	NC_000015.10:g.88851898G>A	gnomAD
rs747501102	p.Val714Ile	missense variant	-	NC_000015.10:g.88851907G>A	ExAC,gnomAD
rs757848551	p.Glu715Asp	missense variant	-	NC_000015.10:g.88851912A>T	ExAC,gnomAD
rs1373392482	p.Glu717Gly	missense variant	-	NC_000015.10:g.88851917A>G	gnomAD
rs1463304827	p.Thr718Ala	missense variant	-	NC_000015.10:g.88851919A>G	gnomAD
rs781633190	p.Thr718Lys	missense variant	-	NC_000015.10:g.88851920C>A	ExAC,TOPMed,gnomAD
rs1434872568	p.Thr719Ala	missense variant	-	NC_000015.10:g.88851922A>G	gnomAD
rs1314113660	p.Ala720Ser	missense variant	-	NC_000015.10:g.88851925G>T	TOPMed,gnomAD
rs769858164	p.Ala720Val	missense variant	-	NC_000015.10:g.88851926C>T	ExAC,gnomAD
rs1314113660	p.Ala720Thr	missense variant	-	NC_000015.10:g.88851925G>A	TOPMed,gnomAD
rs775758199	p.Val721Ile	missense variant	-	NC_000015.10:g.88851928G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro722Leu	missense variant	-	NC_000015.10:g.88851932C>T	NCI-TCGA
rs267604364	p.Pro722Thr	missense variant	-	NC_000015.10:g.88851931C>A	ExAC,TOPMed,gnomAD
rs267604364	p.Pro722Ala	missense variant	-	NC_000015.10:g.88851931C>G	ExAC,TOPMed,gnomAD
rs768777515	p.Pro722His	missense variant	-	NC_000015.10:g.88851932C>A	ExAC,gnomAD
rs267604364	p.Pro722Ser	missense variant	-	NC_000015.10:g.88851931C>T	ExAC,TOPMed,gnomAD
rs1483689555	p.Ser723Pro	missense variant	-	NC_000015.10:g.88851934T>C	TOPMed
rs1048763393	p.Glu725Lys	missense variant	-	NC_000015.10:g.88851940G>A	gnomAD
rs1019308175	p.Ile729Thr	missense variant	-	NC_000015.10:g.88851953T>C	TOPMed,gnomAD
rs1007385280	p.Ile729Val	missense variant	-	NC_000015.10:g.88851952A>G	TOPMed
RCV000585440	p.Ile729Ter	nonsense	-	NC_000015.10:g.88851955del	ClinVar
rs766310483	p.Glu731Asp	missense variant	-	NC_000015.10:g.88851960G>T	ExAC,TOPMed,gnomAD
rs372515989	p.Phe732Leu	missense variant	-	NC_000015.10:g.88851963C>A	ESP,ExAC,TOPMed,gnomAD
rs1199841846	p.Thr733Ile	missense variant	-	NC_000015.10:g.88851965C>T	gnomAD
rs377098407	p.Thr733Pro	missense variant	-	NC_000015.10:g.88851964A>C	TOPMed
rs1048903167	p.Thr734Asn	missense variant	-	NC_000015.10:g.88851968C>A	TOPMed
rs202060628	p.Glu735Lys	missense variant	-	NC_000015.10:g.88851970G>A	ESP,ExAC,TOPMed,gnomAD
rs796312782	p.Glu737Asp	missense variant	-	NC_000015.10:g.88851978A>C	gnomAD
rs1454405139	p.Glu737Gly	missense variant	-	NC_000015.10:g.88851977A>G	gnomAD
rs752367506	p.Asn738Ser	missense variant	-	NC_000015.10:g.88851980A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn738Asp	missense variant	-	NC_000015.10:g.88851979A>G	NCI-TCGA
rs571888451	p.Thr740Ser	missense variant	-	NC_000015.10:g.88851985A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763636524	p.Trp742Gly	missense variant	-	NC_000015.10:g.88851991T>G	ExAC,gnomAD
rs757797101	p.Glu743Asp	missense variant	-	NC_000015.10:g.88851996A>C	ExAC,gnomAD
rs751115587	p.Glu743Gln	missense variant	-	NC_000015.10:g.88851994G>C	ExAC,gnomAD
rs990274531	p.Pro744Ala	missense variant	-	NC_000015.10:g.88851997C>G	TOPMed
rs1362388507	p.Ala745Pro	missense variant	-	NC_000015.10:g.88852000G>C	TOPMed
rs1004956881	p.Thr747Asn	missense variant	-	NC_000015.10:g.88852007C>A	TOPMed
NCI-TCGA novel	p.Thr747Ala	missense variant	-	NC_000015.10:g.88852006A>G	NCI-TCGA
rs781769779	p.Pro748Leu	missense variant	-	NC_000015.10:g.88852010C>T	ExAC,gnomAD
rs1406163211	p.Pro748Ser	missense variant	-	NC_000015.10:g.88852009C>T	gnomAD
NCI-TCGA novel	p.Val749Leu	missense variant	-	NC_000015.10:g.88852012G>T	NCI-TCGA
rs1235249785	p.Val749Met	missense variant	-	NC_000015.10:g.88852012G>A	TOPMed,gnomAD
rs373766961	p.Thr751Ile	missense variant	-	NC_000015.10:g.88852019C>T	ESP,ExAC,gnomAD
rs376234405	p.Pro753Thr	missense variant	-	NC_000015.10:g.88852024C>A	ESP,ExAC,TOPMed,gnomAD
rs749512612	p.Pro753Leu	missense variant	-	NC_000015.10:g.88852025C>T	ExAC,TOPMed,gnomAD
rs577419060	p.Leu754Pro	missense variant	-	NC_000015.10:g.88852028T>C	ExAC,TOPMed,gnomAD
RCV000594506	p.Leu754Pro	missense variant	-	NC_000015.10:g.88852028T>C	ClinVar
rs1227494952	p.Pro755Thr	missense variant	-	NC_000015.10:g.88852030C>A	TOPMed
NCI-TCGA novel	p.Gly756Trp	missense variant	-	NC_000015.10:g.88852033G>T	NCI-TCGA
rs1487920540	p.Ile757Asn	missense variant	-	NC_000015.10:g.88854855T>A	gnomAD
rs1177296194	p.Leu758Ile	missense variant	-	NC_000015.10:g.88854857C>A	gnomAD
NCI-TCGA novel	p.Thr760Ile	missense variant	-	NC_000015.10:g.88854864C>T	NCI-TCGA
rs1370793074	p.Thr760Ser	missense variant	-	NC_000015.10:g.88854864C>G	TOPMed
rs1383469318	p.Thr764Ser	missense variant	-	NC_000015.10:g.88854876C>G	TOPMed
rs754158581	p.Thr764Ala	missense variant	-	NC_000015.10:g.88854875A>G	ExAC,gnomAD
rs150988100	p.Ala766Thr	missense variant	-	NC_000015.10:g.88854881G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1348376177	p.Ala766Val	missense variant	-	NC_000015.10:g.88854882C>T	gnomAD
rs1435969984	p.Ala767Thr	missense variant	-	NC_000015.10:g.88854884G>A	gnomAD
rs1308751676	p.Ala767Val	missense variant	-	NC_000015.10:g.88854885C>T	gnomAD
rs748421719	p.Glu769Gly	missense variant	-	NC_000015.10:g.88854891A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu769Asp	missense variant	-	NC_000015.10:g.88854892G>C	NCI-TCGA
rs1364015558	p.Glu769Lys	missense variant	-	NC_000015.10:g.88854890G>A	TOPMed
COSM702211	p.Glu770Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88854893G>A	NCI-TCGA Cosmic
rs1452306708	p.Thr772Ser	missense variant	-	NC_000015.10:g.88854899A>T	TOPMed
rs777785667	p.Thr772Ile	missense variant	-	NC_000015.10:g.88854900C>T	ExAC,gnomAD
rs745756144	p.Gly774Ala	missense variant	-	NC_000015.10:g.88854906G>C	ExAC,gnomAD
rs1194050400	p.Pro775Arg	missense variant	-	NC_000015.10:g.88854909C>G	TOPMed
rs1320775559	p.Ala777Thr	missense variant	-	NC_000015.10:g.88854914G>A	gnomAD
rs769618934	p.Thr778Asn	missense variant	-	NC_000015.10:g.88854918C>A	ExAC,gnomAD
rs964463877	p.Glu779Ala	missense variant	-	NC_000015.10:g.88854921A>C	TOPMed
rs775312655	p.Val780Leu	missense variant	-	NC_000015.10:g.88854923G>T	ExAC,gnomAD
rs775312655	p.Val780Met	missense variant	-	NC_000015.10:g.88854923G>A	ExAC,gnomAD
rs1180822630	p.Pro781Ser	missense variant	-	NC_000015.10:g.88854926C>T	gnomAD
rs1344279000	p.Ser782Pro	missense variant	-	NC_000015.10:g.88854929T>C	TOPMed,gnomAD
rs1251737076	p.Ser782Phe	missense variant	-	NC_000015.10:g.88854930C>T	gnomAD
NCI-TCGA novel	p.Ala783AsnPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.88854932_88854941GCCTCAGAGG>-	NCI-TCGA
rs762675815	p.Ser784Leu	missense variant	-	NC_000015.10:g.88854936C>T	ExAC,TOPMed,gnomAD
rs1232426218	p.Glu785Asp	missense variant	-	NC_000015.10:g.88854940G>C	TOPMed
COSM4057712	p.Glu785Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88854940G>T	NCI-TCGA Cosmic
rs758720393	p.Glu786Lys	missense variant	-	NC_000015.10:g.88854941G>A	ExAC,TOPMed,gnomAD
rs867650450	p.Ser788Phe	missense variant	-	NC_000015.10:g.88854948C>T	-
rs1326641800	p.Pro789Leu	missense variant	-	NC_000015.10:g.88854951C>T	gnomAD
rs1318322830	p.Glu791Asp	missense variant	-	NC_000015.10:g.88854958G>T	TOPMed
rs543052440	p.Glu791Lys	missense variant	-	NC_000015.10:g.88854956G>A	1000Genomes,ExAC,gnomAD
rs1226325063	p.Val792Met	missense variant	-	NC_000015.10:g.88854959G>A	gnomAD
rs1432426373	p.Pro795His	missense variant	-	NC_000015.10:g.88854969C>A	TOPMed
rs1307432560	p.Pro795Ala	missense variant	-	NC_000015.10:g.88854968C>G	gnomAD
rs78770909	p.Glu797Gly	missense variant	-	NC_000015.10:g.88854975A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1282326768	p.Pro799Thr	missense variant	-	NC_000015.10:g.88854980C>A	gnomAD
NCI-TCGA novel	p.Pro799Ser	missense variant	-	NC_000015.10:g.88854980C>T	NCI-TCGA
rs1378235264	p.Pro799Leu	missense variant	-	NC_000015.10:g.88854981C>T	gnomAD
rs761177707	p.Ser800Tyr	missense variant	-	NC_000015.10:g.88854984C>A	ExAC,gnomAD
COSM3988191	p.Ser800Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88854984C>T	NCI-TCGA Cosmic
rs766827687	p.Pro801Arg	missense variant	-	NC_000015.10:g.88854987C>G	ExAC,TOPMed,gnomAD
rs766827687	p.Pro801Leu	missense variant	-	NC_000015.10:g.88854987C>T	ExAC,TOPMed,gnomAD
rs1339554000	p.Glu803Lys	missense variant	-	NC_000015.10:g.88854992G>A	gnomAD
rs1371249564	p.Glu804Val	missense variant	-	NC_000015.10:g.88854996A>T	TOPMed
NCI-TCGA novel	p.Pro805Thr	missense variant	-	NC_000015.10:g.88854998C>A	NCI-TCGA
rs866839613	p.Pro807Arg	missense variant	-	NC_000015.10:g.88855005C>G	TOPMed,gnomAD
rs866839613	p.Pro807Leu	missense variant	-	NC_000015.10:g.88855005C>T	TOPMed,gnomAD
rs1443533811	p.Val809Met	missense variant	-	NC_000015.10:g.88855010G>A	TOPMed,gnomAD
rs1443533811	p.Val809Leu	missense variant	-	NC_000015.10:g.88855010G>C	TOPMed,gnomAD
rs1281313946	p.Arg810Ser	missense variant	-	NC_000015.10:g.88855015G>T	TOPMed
COSM1375275	p.Pro811Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855016C>T	NCI-TCGA Cosmic
rs1236212249	p.Pro813Thr	missense variant	-	NC_000015.10:g.88855022C>A	gnomAD
COSM3505113	p.Pro813Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855022C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser814GlnPheSerTerUnkUnkUnk	frameshift	-	NC_000015.10:g.88855021C>-	NCI-TCGA
rs755315928	p.Val815Met	missense variant	-	NC_000015.10:g.88855028G>A	ExAC,TOPMed,gnomAD
rs200626682	p.Leu817Pro	missense variant	-	NC_000015.10:g.88855035T>C	ESP,ExAC,TOPMed,gnomAD
rs1168070667	p.Phe818Leu	missense variant	-	NC_000015.10:g.88855037T>C	gnomAD
NCI-TCGA novel	p.Pro819Leu	missense variant	-	NC_000015.10:g.88855041C>T	NCI-TCGA
rs1188341342	p.Ser820Leu	missense variant	-	NC_000015.10:g.88855044C>T	gnomAD
rs1416220883	p.Glu821Gln	missense variant	-	NC_000015.10:g.88855046G>C	gnomAD
rs777838943	p.Glu822Val	missense variant	-	NC_000015.10:g.88855050A>T	ExAC,TOPMed,gnomAD
rs777838943	p.Glu822Gly	missense variant	-	NC_000015.10:g.88855050A>G	ExAC,TOPMed,gnomAD
COSM702209	p.Pro823Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855052C>A	NCI-TCGA Cosmic
rs1435551486	p.Pro823Ala	missense variant	-	NC_000015.10:g.88855052C>G	gnomAD
rs913164178	p.Phe824Leu	missense variant	-	NC_000015.10:g.88855057C>G	TOPMed,gnomAD
rs1322235271	p.Phe824Leu	missense variant	-	NC_000015.10:g.88855055T>C	gnomAD
rs1342958816	p.Pro825Leu	missense variant	-	NC_000015.10:g.88855059C>T	TOPMed
rs747087432	p.Pro825Ser	missense variant	-	NC_000015.10:g.88855058C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro825Thr	missense variant	-	NC_000015.10:g.88855058C>A	NCI-TCGA
rs1275046894	p.Ser826Ala	missense variant	-	NC_000015.10:g.88855061T>G	gnomAD
rs865898745	p.Lys827Glu	missense variant	-	NC_000015.10:g.88855064A>G	TOPMed
rs201767607	p.Glu828Gly	missense variant	-	NC_000015.10:g.88855068A>G	ESP,ExAC,TOPMed,gnomAD
rs1216961292	p.Glu828Asp	missense variant	-	NC_000015.10:g.88855069G>C	gnomAD
rs1461211471	p.Pro829Leu	missense variant	-	NC_000015.10:g.88855071C>T	gnomAD
rs1277119916	p.Pro829Ser	missense variant	-	NC_000015.10:g.88855070C>T	gnomAD
rs547171655	p.Pro831Leu	missense variant	-	NC_000015.10:g.88855077C>T	1000Genomes,ExAC,gnomAD
rs747735799	p.Ser832Thr	missense variant	-	NC_000015.10:g.88855079T>A	ExAC,gnomAD
rs771635733	p.Glu833Ala	missense variant	-	NC_000015.10:g.88855083A>C	ExAC,gnomAD
rs772728936	p.Pro835Thr	missense variant	-	NC_000015.10:g.88855088C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser836Pro	missense variant	-	NC_000015.10:g.88855091T>C	NCI-TCGA
rs760132170	p.Ala837Pro	missense variant	-	NC_000015.10:g.88855094G>C	ExAC,gnomAD
rs1428070477	p.Ala837Asp	missense variant	-	NC_000015.10:g.88855095C>A	gnomAD
rs776978647	p.Ser838Leu	missense variant	-	NC_000015.10:g.88855098C>T	ExAC,TOPMed,gnomAD
rs1386240559	p.Pro841Leu	missense variant	-	NC_000015.10:g.88855107C>T	TOPMed,gnomAD
rs758574714	p.Thr843Arg	missense variant	-	NC_000015.10:g.88855113C>G	ExAC,gnomAD
COSM1375277	p.Thr843Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855113C>A	NCI-TCGA Cosmic
rs1013690790	p.Thr843Ala	missense variant	-	NC_000015.10:g.88855112A>G	TOPMed,gnomAD
rs1273679415	p.Pro844Leu	missense variant	-	NC_000015.10:g.88855116C>T	gnomAD
rs1433688834	p.Pro844Ser	missense variant	-	NC_000015.10:g.88855115C>T	gnomAD
rs372267862	p.Pro847Ala	missense variant	-	NC_000015.10:g.88855124C>G	ESP,ExAC,TOPMed,gnomAD
rs372267862	p.Pro847Thr	missense variant	-	NC_000015.10:g.88855124C>A	ESP,ExAC,TOPMed,gnomAD
rs368584197	p.Val848Met	missense variant	-	NC_000015.10:g.88855127G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val848CysPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.88855121C>-	NCI-TCGA
rs749234782	p.Pro849Ala	missense variant	-	NC_000015.10:g.88855130C>G	ExAC,gnomAD
rs150116620	p.Ser850Gly	missense variant	-	NC_000015.10:g.88855133A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748671945	p.Glu853Asp	missense variant	-	NC_000015.10:g.88855144G>C	ExAC,TOPMed,gnomAD
COSM4057714	p.Pro855Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855148C>T	NCI-TCGA Cosmic
rs1018436348	p.Ser857Cys	missense variant	-	NC_000015.10:g.88855155C>G	TOPMed
rs772707511	p.Gly858Arg	missense variant	-	NC_000015.10:g.88855157G>C	ExAC,gnomAD
rs772707511	p.Gly858Arg	missense variant	-	NC_000015.10:g.88855157G>A	ExAC,gnomAD
RCV000437939	p.Gly858Arg	missense variant	-	NC_000015.10:g.88855157G>A	ClinVar
rs746720958	p.Glu859Asp	missense variant	-	NC_000015.10:g.88855162G>C	ExAC,gnomAD
rs1392497696	p.Ser861Cys	missense variant	-	NC_000015.10:g.88855167C>G	gnomAD
NCI-TCGA novel	p.Ser861Phe	missense variant	-	NC_000015.10:g.88855167C>T	NCI-TCGA
rs1354321265	p.Pro864Ser	missense variant	-	NC_000015.10:g.88855175C>T	TOPMed
rs3743398	p.Pro864Leu	missense variant	-	NC_000015.10:g.88855176C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp865Gly	missense variant	-	NC_000015.10:g.88855179A>G	NCI-TCGA
rs776186236	p.Val866Ile	missense variant	-	NC_000015.10:g.88855181G>A	ExAC,TOPMed,gnomAD
rs372878138	p.Gly868Asp	missense variant	-	NC_000015.10:g.88855188G>A	ESP,ExAC,TOPMed,gnomAD
rs1290760388	p.Thr871Ala	missense variant	-	NC_000015.10:g.88855196A>G	gnomAD
rs945279211	p.Gly874Ala	missense variant	-	NC_000015.10:g.88855206G>C	TOPMed
rs770312420	p.Gly878Glu	missense variant	-	NC_000015.10:g.88855218G>A	ExAC,TOPMed,gnomAD
rs1042695385	p.His879Gln	missense variant	-	NC_000015.10:g.88855222C>A	TOPMed
rs1266378954	p.His879Leu	missense variant	-	NC_000015.10:g.88855221A>T	gnomAD
rs775794880	p.Leu880His	missense variant	-	NC_000015.10:g.88855224T>A	ExAC,gnomAD
COSM259284	p.Asp881Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855228C>A	NCI-TCGA Cosmic
rs1460966527	p.Phe882Val	missense variant	-	NC_000015.10:g.88855229T>G	TOPMed
NCI-TCGA novel	p.Phe882Leu	missense variant	-	NC_000015.10:g.88855231C>A	NCI-TCGA
rs200269121	p.Ser883Asn	missense variant	-	NC_000015.10:g.88855233G>A	TOPMed
NCI-TCGA novel	p.Ser883Arg	missense variant	-	NC_000015.10:g.88855234T>A	NCI-TCGA
rs374881297	p.Gln885Glu	missense variant	-	NC_000015.10:g.88855238C>G	ESP,TOPMed,gnomAD
rs763199875	p.Gly888Glu	missense variant	-	NC_000015.10:g.88855248G>A	ExAC,gnomAD
rs763199875	p.Gly888Ala	missense variant	-	NC_000015.10:g.88855248G>C	ExAC,gnomAD
rs764571461	p.Asp889Asn	missense variant	-	NC_000015.10:g.88855250G>A	ExAC,gnomAD
rs764571461	p.Asp889His	missense variant	-	NC_000015.10:g.88855250G>C	ExAC,gnomAD
rs751720191	p.Arg890Thr	missense variant	-	NC_000015.10:g.88855254G>C	ExAC,gnomAD
rs762163984	p.Ala891Ser	missense variant	-	NC_000015.10:g.88855256G>T	ExAC,gnomAD
rs1418411643	p.Ser892Gly	missense variant	-	NC_000015.10:g.88855259A>G	TOPMed,gnomAD
rs1459414684	p.Pro895Leu	missense variant	-	NC_000015.10:g.88855269C>T	TOPMed
COSM3969329	p.Pro895Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855268C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser896Tyr	missense variant	-	NC_000015.10:g.88855272C>A	NCI-TCGA
rs1370011974	p.Gly897Ter	stop gained	-	NC_000015.10:g.88855274G>T	gnomAD
NCI-TCGA novel	p.Leu899Val	missense variant	-	NC_000015.10:g.88855280C>G	NCI-TCGA
COSM3505115	p.Asp900Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855283G>A	NCI-TCGA Cosmic
rs1162299565	p.Ser901Phe	missense variant	-	NC_000015.10:g.88855287C>T	TOPMed,gnomAD
rs754913339	p.Ser902Thr	missense variant	-	NC_000015.10:g.88855290G>C	ExAC,gnomAD
rs779024114	p.Gly903Val	missense variant	-	NC_000015.10:g.88855293G>T	ExAC,TOPMed,gnomAD
rs779024114	p.Gly903Asp	missense variant	-	NC_000015.10:g.88855293G>A	ExAC,TOPMed,gnomAD
rs758104180	p.Thr905Ile	missense variant	-	NC_000015.10:g.88855299C>T	ExAC,gnomAD
COSM3505117	p.Ser906Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855302C>T	NCI-TCGA Cosmic
rs1314009400	p.Val908Gly	missense variant	-	NC_000015.10:g.88855308T>G	gnomAD
rs777677916	p.Gly909Cys	missense variant	-	NC_000015.10:g.88855310G>T	ExAC,gnomAD
rs777677916	p.Gly909Ser	missense variant	-	NC_000015.10:g.88855310G>A	ExAC,gnomAD
rs1314714838	p.Gly911Arg	missense variant	-	NC_000015.10:g.88855316G>C	gnomAD
rs746633929	p.Gly911Asp	missense variant	-	NC_000015.10:g.88855317G>A	ExAC,gnomAD
rs35430524	p.Pro913Thr	missense variant	-	NC_000015.10:g.88855322C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val914Leu	missense variant	-	NC_000015.10:g.88855325G>T	NCI-TCGA
rs769337152	p.Ser916Cys	missense variant	-	NC_000015.10:g.88855331A>T	ExAC,TOPMed,gnomAD
rs775956303	p.Ser916Arg	missense variant	-	NC_000015.10:g.88855333T>A	ExAC,TOPMed,gnomAD
rs1421839249	p.Gly917Arg	missense variant	-	NC_000015.10:g.88855334G>A	gnomAD
rs377554089	p.Ser920Pro	missense variant	-	NC_000015.10:g.88855343T>C	ESP,gnomAD
rs774783018	p.Ser920Leu	missense variant	-	NC_000015.10:g.88855344C>T	ExAC,gnomAD
rs774783018	p.Ser920Ter	stop gained	-	NC_000015.10:g.88855344C>A	ExAC,gnomAD
rs767873732	p.Gly921Val	missense variant	-	NC_000015.10:g.88855347G>T	ExAC,gnomAD
COSM3887718	p.Gly921Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855346G>A	NCI-TCGA Cosmic
rs927161846	p.Asp922Asn	missense variant	-	NC_000015.10:g.88855349G>A	TOPMed
rs1404892129	p.Glu923Ala	missense variant	-	NC_000015.10:g.88855353A>C	gnomAD
COSM3794496	p.Arg925Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855359G>A	NCI-TCGA Cosmic
rs1394715792	p.Ile926Thr	missense variant	-	NC_000015.10:g.88855362T>C	gnomAD
rs1166918963	p.Ile926Phe	missense variant	-	NC_000015.10:g.88855361A>T	TOPMed
rs546089499	p.Pro929Thr	missense variant	-	NC_000015.10:g.88855370C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs546089499	p.Pro929Ser	missense variant	-	NC_000015.10:g.88855370C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs938608	p.Ser930Ile	missense variant	-	NC_000015.10:g.88855374G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1230932339	p.Ser930Arg	missense variant	-	NC_000015.10:g.88855375C>A	gnomAD
rs1374551151	p.Thr931Ile	missense variant	-	NC_000015.10:g.88855377C>T	-
rs1295619279	p.Pro932Ser	missense variant	-	NC_000015.10:g.88855379C>T	gnomAD
rs1441891061	p.Thr933Ala	missense variant	-	NC_000015.10:g.88855382A>G	TOPMed
rs376179210	p.Thr933Met	missense variant	-	NC_000015.10:g.88855383C>T	ESP,ExAC,TOPMed,gnomAD
rs1257757514	p.Val934Phe	missense variant	-	NC_000015.10:g.88855385G>T	gnomAD
COSM1470773	p.Gly935Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855389G>A	NCI-TCGA Cosmic
rs1489062655	p.Gly935Val	missense variant	-	NC_000015.10:g.88855389G>T	TOPMed
NCI-TCGA novel	p.Glu936Ter	stop gained	-	NC_000015.10:g.88855391G>T	NCI-TCGA
rs1482228246	p.Glu936Lys	missense variant	-	NC_000015.10:g.88855391G>A	gnomAD
rs938609	p.Ser939Thr	missense variant	-	NC_000015.10:g.88855400T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1466055345	p.Gly940Arg	missense variant	-	NC_000015.10:g.88855403G>A	gnomAD
rs780795750	p.Ala941Val	missense variant	-	NC_000015.10:g.88855407C>T	ExAC,gnomAD
rs1260532722	p.Glu942Asp	missense variant	-	NC_000015.10:g.88855411G>T	gnomAD
rs1177593426	p.Leu944Pro	missense variant	-	NC_000015.10:g.88855416T>C	gnomAD
rs745572907	p.Leu944Ile	missense variant	-	NC_000015.10:g.88855415C>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu945Lys	missense variant	-	NC_000015.10:g.88855418G>A	NCI-TCGA
rs528876577	p.Gly946Ala	missense variant	-	NC_000015.10:g.88855422G>C	1000Genomes,TOPMed
rs561378076	p.Gly946Ser	missense variant	-	NC_000015.10:g.88855421G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs528876577	p.Gly946Val	missense variant	-	NC_000015.10:g.88855422G>T	1000Genomes,TOPMed
rs561378076	p.Gly946Cys	missense variant	-	NC_000015.10:g.88855421G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs559189679	p.Ala948Val	missense variant	-	NC_000015.10:g.88855428C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs138620973	p.Ala948Pro	missense variant	-	NC_000015.10:g.88855427G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs138620973	p.Ala948Ser	missense variant	-	NC_000015.10:g.88855427G>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM223805	p.Gly950Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855433G>A	NCI-TCGA Cosmic
rs1233295673	p.Val951Ile	missense variant	-	NC_000015.10:g.88855436G>A	TOPMed
rs1437653528	p.Gly952Arg	missense variant	-	NC_000015.10:g.88855439G>C	gnomAD
rs1318791718	p.Gly952Val	missense variant	-	NC_000015.10:g.88855440G>T	gnomAD
rs371044633	p.Asp953Glu	missense variant	-	NC_000015.10:g.88855444T>A	1000Genomes,ESP,TOPMed,gnomAD
rs774530122	p.Asp953Val	missense variant	-	NC_000015.10:g.88855443A>T	ExAC,TOPMed,gnomAD
rs371044633	p.Asp953Glu	missense variant	-	NC_000015.10:g.88855444T>G	1000Genomes,ESP,TOPMed,gnomAD
rs1387483383	p.Asp953Tyr	missense variant	-	NC_000015.10:g.88855442G>T	gnomAD
rs569930044	p.Leu954Ile	missense variant	-	NC_000015.10:g.88855445C>A	1000Genomes,ExAC,gnomAD
COSM3887720	p.Leu954Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855445C>T	NCI-TCGA Cosmic
rs569930044	p.Leu954Val	missense variant	-	NC_000015.10:g.88855445C>G	1000Genomes,ExAC,gnomAD
rs772604061	p.Ser955Arg	missense variant	-	NC_000015.10:g.88855450T>A	ExAC,TOPMed,gnomAD
rs761033351	p.Leu957Phe	missense variant	-	NC_000015.10:g.88855454C>T	ExAC,gnomAD
COSM3505125	p.Gly960Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855464G>A	NCI-TCGA Cosmic
rs776772838	p.Glu961Lys	missense variant	-	NC_000015.10:g.88855466G>A	ExAC,TOPMed,gnomAD
rs1241223088	p.Leu963Val	missense variant	-	NC_000015.10:g.88855472C>G	gnomAD
rs1488593030	p.Thr965Ser	missense variant	-	NC_000015.10:g.88855479C>G	gnomAD
rs1488593030	p.Thr965Ile	missense variant	-	NC_000015.10:g.88855479C>T	gnomAD
rs1479797477	p.Ser966Cys	missense variant	-	NC_000015.10:g.88855482C>G	gnomAD
rs550185243	p.Ser966Thr	missense variant	-	NC_000015.10:g.88855481T>A	1000Genomes,TOPMed,gnomAD
rs550185243	p.Ser966Ala	missense variant	-	NC_000015.10:g.88855481T>G	1000Genomes,TOPMed,gnomAD
rs1199348441	p.Ala967Val	missense variant	-	NC_000015.10:g.88855485C>T	gnomAD
rs568435726	p.Ser968Pro	missense variant	-	NC_000015.10:g.88855487T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs953788738	p.Val970Ile	missense variant	-	NC_000015.10:g.88855493G>A	TOPMed,gnomAD
rs757026255	p.Gly971Glu	missense variant	-	NC_000015.10:g.88855497G>A	ExAC,TOPMed,gnomAD
rs1277831540	p.Leu973Ile	missense variant	-	NC_000015.10:g.88855502C>A	TOPMed
rs1047540516	p.Leu973Pro	missense variant	-	NC_000015.10:g.88855503T>C	TOPMed
NCI-TCGA novel	p.Leu973Phe	missense variant	-	NC_000015.10:g.88855502C>T	NCI-TCGA
rs1212691565	p.Leu976Phe	missense variant	-	NC_000015.10:g.88855511C>T	TOPMed
rs528763651	p.Pro977Ser	missense variant	-	NC_000015.10:g.88855514C>T	ExAC,TOPMed
NCI-TCGA novel	p.Gly979Ala	missense variant	-	NC_000015.10:g.88855521G>C	NCI-TCGA
rs190556234	p.Gly979Val	missense variant	-	NC_000015.10:g.88855521G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs779442875	p.Gly979Arg	missense variant	-	NC_000015.10:g.88855520G>A	ExAC
COSM4758627	p.Glu980Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855525A>C	NCI-TCGA Cosmic
rs1312566533	p.Val981Leu	missense variant	-	NC_000015.10:g.88855526G>C	TOPMed
rs1466854237	p.Leu982Ile	missense variant	-	NC_000015.10:g.88855529C>A	TOPMed
rs145274175	p.Glu983Gln	missense variant	-	NC_000015.10:g.88855532G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu983Lys	missense variant	-	NC_000015.10:g.88855532G>A	NCI-TCGA
rs1168818710	p.Thr984Ser	missense variant	-	NC_000015.10:g.88855536C>G	TOPMed
rs200194458	p.Thr985Ser	missense variant	-	NC_000015.10:g.88855538A>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000210612	p.Thr985Ala	missense variant	Inborn genetic diseases	NC_000015.10:g.88855538A>G	ClinVar
rs200194458	p.Thr985Ala	missense variant	-	NC_000015.10:g.88855538A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs765285584	p.Ala986Ser	missense variant	-	NC_000015.10:g.88855541G>T	ExAC
COSM6143197	p.Pro987Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88855544C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly988Arg	missense variant	-	NC_000015.10:g.88855547G>A	NCI-TCGA
rs368974937	p.Val989Ile	missense variant	-	NC_000015.10:g.88855550G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1352246995	p.Glu990Asp	missense variant	-	NC_000015.10:g.88855555G>C	gnomAD
NCI-TCGA novel	p.Asp991Asn	missense variant	-	NC_000015.10:g.88855556G>A	NCI-TCGA
rs1226404441	p.Ile992Leu	missense variant	-	NC_000015.10:g.88855559A>C	gnomAD
rs767234739	p.Gly994Trp	missense variant	-	NC_000015.10:g.88855565G>T	ExAC,TOPMed,gnomAD
rs767234739	p.Gly994Arg	missense variant	-	NC_000015.10:g.88855565G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu995Ile	missense variant	-	NC_000015.10:g.88855568C>A	NCI-TCGA
NCI-TCGA novel	p.Pro996Leu	missense variant	-	NC_000015.10:g.88855572C>T	NCI-TCGA
NCI-TCGA novel	p.Pro996Ser	missense variant	-	NC_000015.10:g.88855571C>T	NCI-TCGA
rs546999192	p.Ser997Ala	missense variant	-	NC_000015.10:g.88855574T>G	ExAC,TOPMed,gnomAD
rs1490045734	p.Ser997Cys	missense variant	-	NC_000015.10:g.88855575C>G	gnomAD
NCI-TCGA novel	p.Ser997Phe	missense variant	-	NC_000015.10:g.88855575C>T	NCI-TCGA
rs1175889654	p.Glu999Asp	missense variant	-	NC_000015.10:g.88855582A>T	gnomAD
rs1473844812	p.Glu999Gly	missense variant	-	NC_000015.10:g.88855581A>G	gnomAD
rs1270044214	p.Glu1002Gln	missense variant	-	NC_000015.10:g.88855589G>C	TOPMed,gnomAD
rs1167188105	p.Thr1003Asn	missense variant	-	NC_000015.10:g.88855593C>A	gnomAD
rs1167188105	p.Thr1003Ile	missense variant	-	NC_000015.10:g.88855593C>T	gnomAD
rs34570487	p.Thr1004Ala	missense variant	-	NC_000015.10:g.88855595A>G	ExAC,TOPMed,gnomAD
rs34570487	p.Thr1004Ser	missense variant	-	NC_000015.10:g.88855595A>T	ExAC,TOPMed,gnomAD
RCV000514188	p.Thr1004Ala	missense variant	-	NC_000015.10:g.88855595A>G	ClinVar
rs1372378567	p.Gly1007Val	missense variant	-	NC_000015.10:g.88855605G>T	gnomAD
rs1439976934	p.Glu1009Asp	missense variant	-	NC_000015.10:g.88855612G>T	gnomAD
rs1278835631	p.Asp1010Glu	missense variant	-	NC_000015.10:g.88855615C>G	gnomAD
rs1379643244	p.Ile1011Val	missense variant	-	NC_000015.10:g.88855616A>G	TOPMed,gnomAD
rs1296742035	p.Ser1012Gly	missense variant	-	NC_000015.10:g.88855619A>G	TOPMed
rs1310225066	p.Gly1013Arg	missense variant	-	NC_000015.10:g.88855622G>A	TOPMed,gnomAD
rs555664055	p.Ser1016Cys	missense variant	-	NC_000015.10:g.88855632C>G	1000Genomes,TOPMed
rs778342580	p.Thr1022Ile	missense variant	-	NC_000015.10:g.88855650C>T	ExAC
rs75032377	p.Thr1023Ala	missense variant	-	NC_000015.10:g.88855652A>G	ExAC,gnomAD
rs75032377	p.Thr1023Ser	missense variant	-	NC_000015.10:g.88855652A>T	ExAC,gnomAD
rs778222669	p.Ala1024Val	missense variant	-	NC_000015.10:g.88855656C>T	ExAC
rs747396821	p.Pro1025Ser	missense variant	-	NC_000015.10:g.88855658C>T	ExAC
rs548914391	p.Thr1061Ala	missense variant	-	NC_000015.10:g.88855766A>G	gnomAD
rs548914391	p.Thr1061Ser	missense variant	-	NC_000015.10:g.88855766A>T	gnomAD
rs56244342	p.Ala1062Thr	missense variant	-	NC_000015.10:g.88855769G>A	gnomAD
rs56244342	p.Ala1062Pro	missense variant	-	NC_000015.10:g.88855769G>C	gnomAD
rs1169427379	p.Pro1063Ser	missense variant	-	NC_000015.10:g.88855772C>T	gnomAD
rs1392131165	p.Ile1068Leu	missense variant	-	NC_000015.10:g.88855787A>C	gnomAD
rs1328106926	p.Gly1070Arg	missense variant	-	NC_000015.10:g.88855793G>A	gnomAD
rs1450025204	p.Leu1077Val	missense variant	-	NC_000015.10:g.88855814C>G	gnomAD
NCI-TCGA novel	p.Thr1079Ile	missense variant	-	NC_000015.10:g.88855821C>T	NCI-TCGA
rs373544100	p.Thr1080Ala	missense variant	-	NC_000015.10:g.88855823A>G	1000Genomes
rs373544100	p.Thr1080Ala	missense variant	-	NC_000015.10:g.88855823A>G	UniProt,dbSNP
VAR_080163	p.Thr1080Ala	missense variant	-	NC_000015.10:g.88855823A>G	UniProt
NCI-TCGA novel	p.Ala1081Val	missense variant	-	NC_000015.10:g.88855827C>T	NCI-TCGA
rs1334423732	p.Pro1082Ser	missense variant	-	NC_000015.10:g.88855829C>T	gnomAD
NCI-TCGA novel	p.Gly1083Glu	missense variant	-	NC_000015.10:g.88855833G>A	NCI-TCGA
rs1381638362	p.Val1084Ile	missense variant	-	NC_000015.10:g.88855835G>A	gnomAD
rs1228723625	p.Glu1085Asp	missense variant	-	NC_000015.10:g.88855840G>C	gnomAD
NCI-TCGA novel	p.Asp1086Tyr	missense variant	-	NC_000015.10:g.88855841G>T	NCI-TCGA
rs1213405183	p.Gly1089Arg	missense variant	-	NC_000015.10:g.88855850G>A	gnomAD
NCI-TCGA novel	p.Pro1091Leu	missense variant	-	NC_000015.10:g.88855857C>T	NCI-TCGA
rs1175264837	p.Glu1094Gly	missense variant	-	NC_000015.10:g.88855866A>G	TOPMed
NCI-TCGA novel	p.Thr1098Ser	missense variant	-	NC_000015.10:g.88855877A>T	NCI-TCGA
rs563511597	p.Ala1099Thr	missense variant	-	NC_000015.10:g.88855880G>A	1000Genomes,gnomAD
rs1241722055	p.Asp1105Glu	missense variant	-	NC_000015.10:g.88855900C>G	TOPMed,gnomAD
rs1189473391	p.Gly1108Arg	missense variant	-	NC_000015.10:g.88855907G>A	gnomAD
rs112126237	p.Gly1112Glu	missense variant	-	NC_000015.10:g.88855920G>A	gnomAD
rs1405111541	p.Ala1119Asp	missense variant	-	NC_000015.10:g.88855941C>A	gnomAD
rs1405111541	p.Ala1119Val	missense variant	-	NC_000015.10:g.88855941C>T	gnomAD
rs1435468808	p.Pro1120Ser	missense variant	-	NC_000015.10:g.88855943C>T	gnomAD
rs1322140250	p.Ala1194Thr	missense variant	-	NC_000015.10:g.88856165G>A	gnomAD
rs1322140250	p.Ala1194Ser	missense variant	-	NC_000015.10:g.88856165G>T	gnomAD
RCV000597945	p.Ala1194Thr	missense variant	-	NC_000015.10:g.88856165G>A	ClinVar
rs1324313662	p.Ala1195Asp	missense variant	-	NC_000015.10:g.88856169C>A	gnomAD
rs1429484794	p.Ile1201Leu	missense variant	-	NC_000015.10:g.88856186A>C	gnomAD
NCI-TCGA novel	p.Thr1212Ser	missense variant	-	NC_000015.10:g.88856219A>T	NCI-TCGA
rs11638262	p.Ala1213Thr	missense variant	-	NC_000015.10:g.88856222G>A	gnomAD
rs11638262	p.Ala1213Ser	missense variant	-	NC_000015.10:g.88856222G>T	gnomAD
NCI-TCGA novel	p.Pro1215LeuPheSerTerUnk	frameshift	-	NC_000015.10:g.88856226C>-	NCI-TCGA
rs1225916480	p.Glu1227Gly	missense variant	-	NC_000015.10:g.88856265A>G	gnomAD
rs113457214	p.Ala1232Thr	missense variant	-	NC_000015.10:g.88856279G>A	gnomAD
rs1323283220	p.Ala1233Val	missense variant	-	NC_000015.10:g.88856283C>T	gnomAD
rs200536240	p.Asp1238Glu	missense variant	-	NC_000015.10:g.88856299C>G	gnomAD
rs1445473284	p.Gly1241Glu	missense variant	-	NC_000015.10:g.88856307G>A	gnomAD
rs1192614257	p.Glu1246Gly	missense variant	-	NC_000015.10:g.88856322A>G	gnomAD
rs201500718	p.Ala1251Thr	missense variant	-	NC_000015.10:g.88856336G>A	gnomAD
rs201500718	p.Ala1251Ser	missense variant	-	NC_000015.10:g.88856336G>T	gnomAD
rs1197203192	p.Ala1252Val	missense variant	-	NC_000015.10:g.88856340C>T	gnomAD
rs1479020700	p.Ala1252Thr	missense variant	-	NC_000015.10:g.88856339G>A	gnomAD
rs1428428711	p.Pro1253Ser	missense variant	-	NC_000015.10:g.88856342C>T	gnomAD
rs1457629597	p.Gly1254Ala	missense variant	-	NC_000015.10:g.88856346G>C	gnomAD
RCV000015374	p.Gly1254Ter	frameshift	Spondyloepiphyseal dysplasia, kimberley type (SEDK)	NC_000015.10:g.88856343dup	ClinVar
rs1382380657	p.Glu1256Gly	missense variant	-	NC_000015.10:g.88856352A>G	gnomAD
rs1399722427	p.Ile1258Leu	missense variant	-	NC_000015.10:g.88856357A>C	gnomAD
rs1402483015	p.Ala1271Val	missense variant	-	NC_000015.10:g.88856397C>T	gnomAD
RCV000592859	p.Ala1271Val	missense variant	-	NC_000015.10:g.88856397C>T	ClinVar
rs200156631	p.Ala1365Thr	missense variant	-	NC_000015.10:g.88856678G>A	TOPMed,gnomAD
rs1229451864	p.Ala1366Val	missense variant	-	NC_000015.10:g.88856682C>T	TOPMed,gnomAD
rs1305200025	p.Ala1366Ser	missense variant	-	NC_000015.10:g.88856681G>T	TOPMed
rs1281606349	p.Asp1371His	missense variant	-	NC_000015.10:g.88856696G>C	TOPMed,gnomAD
rs1348935787	p.Asp1371Glu	missense variant	-	NC_000015.10:g.88856698C>G	TOPMed,gnomAD
rs201302102	p.Gly1374Arg	missense variant	-	NC_000015.10:g.88856705G>A	TOPMed,gnomAD
rs561175031	p.Val1380Ala	missense variant	-	NC_000015.10:g.88856724T>C	1000Genomes,gnomAD
RCV000757905	p.Val1380Phe	missense variant	Spondyloepimetaphyseal dysplasia, Aggrecan type (SEMDAG)	NC_000015.10:g.88856723G>T	ClinVar
rs61465251	p.Ala1384Ser	missense variant	-	NC_000015.10:g.88856735G>T	TOPMed
rs61465251	p.Ala1384Thr	missense variant	-	NC_000015.10:g.88856735G>A	TOPMed
rs529296210	p.Glu1389Asp	missense variant	-	NC_000015.10:g.88856752G>T	1000Genomes
rs201822759	p.Asp1390Glu	missense variant	-	NC_000015.10:g.88856755C>G	1000Genomes,TOPMed
rs1268162032	p.Asp1390Asn	missense variant	-	NC_000015.10:g.88856753G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Asp1390Glu	missense variant	-	NC_000015.10:g.88856755C>A	NCI-TCGA
rs56014140	p.Ser1392Cys	missense variant	-	NC_000015.10:g.88856759A>T	gnomAD
rs1469388190	p.Ser1392Ile	missense variant	-	NC_000015.10:g.88856760G>T	gnomAD
rs56014140	p.Ser1392Gly	missense variant	-	NC_000015.10:g.88856759A>G	gnomAD
rs1163487592	p.Gly1393Val	missense variant	-	NC_000015.10:g.88856763G>T	gnomAD
rs1422278664	p.Pro1395His	missense variant	-	NC_000015.10:g.88856769C>A	gnomAD
rs1392430936	p.Pro1395Ser	missense variant	-	NC_000015.10:g.88856768C>T	gnomAD
rs1301966535	p.Ser1396Tyr	missense variant	-	NC_000015.10:g.88856772C>A	gnomAD
RCV000657543	p.Ser1396Ter	frameshift	-	NC_000015.10:g.88856771del	ClinVar
rs1411008587	p.Gly1397Ter	stop gained	-	NC_000015.10:g.88856774G>T	gnomAD
NCI-TCGA novel	p.Gly1397Arg	missense variant	-	NC_000015.10:g.88856774G>A	NCI-TCGA
rs1334365213	p.Glu1398Ter	stop gained	-	NC_000015.10:g.88856777G>T	gnomAD
rs1285074352	p.Val1399Leu	missense variant	-	NC_000015.10:g.88856780G>C	gnomAD
rs1243929072	p.Leu1400Val	missense variant	-	NC_000015.10:g.88856783C>G	gnomAD
rs1291091273	p.Glu1401Ter	stop gained	-	NC_000015.10:g.88856786G>T	gnomAD
rs1483398464	p.Glu1401Val	missense variant	-	NC_000015.10:g.88856787A>T	gnomAD
rs1248248399	p.Thr1403Ile	missense variant	-	NC_000015.10:g.88856793C>T	gnomAD
rs12899191	p.Thr1403Ser	missense variant	-	NC_000015.10:g.88856792A>T	TOPMed,gnomAD
rs12899191	p.Thr1403Ala	missense variant	-	NC_000015.10:g.88856792A>G	TOPMed,gnomAD
rs12899191	p.Thr1403Ala	missense variant	-	NC_000015.10:g.88856792A>G	UniProt,dbSNP
VAR_080164	p.Thr1403Ala	missense variant	-	NC_000015.10:g.88856792A>G	UniProt
rs12899191	p.Thr1403Pro	missense variant	-	NC_000015.10:g.88856792A>C	TOPMed,gnomAD
rs886640161	p.Ala1404Ser	missense variant	-	NC_000015.10:g.88856795G>T	TOPMed
rs879116073	p.Pro1405Ser	missense variant	-	NC_000015.10:g.88856798C>T	gnomAD
rs1386759412	p.Pro1405His	missense variant	-	NC_000015.10:g.88856799C>A	gnomAD
rs746137604	p.Gly1406Arg	missense variant	-	NC_000015.10:g.88856801G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1406Glu	missense variant	-	NC_000015.10:g.88856802G>A	NCI-TCGA
rs1390278672	p.Gly1406Ala	missense variant	-	NC_000015.10:g.88856802G>C	gnomAD
rs769916916	p.Glu1408Asp	missense variant	-	NC_000015.10:g.88856809G>T	ExAC,TOPMed
rs1391236842	p.Glu1408Gly	missense variant	-	NC_000015.10:g.88856808A>G	gnomAD
rs1394961166	p.Glu1408Lys	missense variant	-	NC_000015.10:g.88856807G>A	gnomAD
rs28559926	p.Glu1409Asp	missense variant	-	NC_000015.10:g.88856812G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs28559926	p.Glu1409Asp	missense variant	-	NC_000015.10:g.88856812G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1335246467	p.Glu1409Ter	stop gained	-	NC_000015.10:g.88856810G>T	gnomAD
rs1450760590	p.Ser1411Cys	missense variant	-	NC_000015.10:g.88856816A>T	gnomAD
COSM702205	p.Ser1411Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856818C>A	NCI-TCGA Cosmic
rs1311841858	p.Ser1411Thr	missense variant	-	NC_000015.10:g.88856817G>C	TOPMed
rs372314637	p.Gly1412Arg	missense variant	-	NC_000015.10:g.88856819G>A	ESP,TOPMed,gnomAD
rs1229700998	p.Leu1413Phe	missense variant	-	NC_000015.10:g.88856822C>T	gnomAD
rs1249607834	p.Pro1414Ser	missense variant	-	NC_000015.10:g.88856825C>T	gnomAD
rs1338648130	p.Pro1414Leu	missense variant	-	NC_000015.10:g.88856826C>T	gnomAD
NCI-TCGA novel	p.Pro1414His	missense variant	-	NC_000015.10:g.88856826C>A	NCI-TCGA
rs1200865982	p.Ser1415Thr	missense variant	-	NC_000015.10:g.88856828T>A	gnomAD
rs1244781469	p.Ser1415Phe	missense variant	-	NC_000015.10:g.88856829C>T	gnomAD
rs1459776179	p.Gly1416Arg	missense variant	-	NC_000015.10:g.88856831G>A	gnomAD
NCI-TCGA novel	p.Glu1417Asp	missense variant	-	NC_000015.10:g.88856836A>C	NCI-TCGA
rs1182611057	p.Glu1417Lys	missense variant	-	NC_000015.10:g.88856834G>A	gnomAD
rs772019426	p.Glu1417Asp	missense variant	-	NC_000015.10:g.88856836A>T	ExAC,gnomAD
rs1248187330	p.Glu1417Gly	missense variant	-	NC_000015.10:g.88856835A>G	gnomAD
rs551867169	p.Val1418Gly	missense variant	-	NC_000015.10:g.88856838T>G	1000Genomes,gnomAD
rs1324851145	p.Val1418Leu	missense variant	-	NC_000015.10:g.88856837G>C	TOPMed
rs551867169	p.Val1418Ala	missense variant	-	NC_000015.10:g.88856838T>C	1000Genomes,gnomAD
COSM1375280	p.Leu1419Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856840C>A	NCI-TCGA Cosmic
rs376637662	p.Glu1420Gln	missense variant	-	NC_000015.10:g.88856843G>C	ESP,gnomAD
rs376637662	p.Glu1420Lys	missense variant	-	NC_000015.10:g.88856843G>A	ESP,gnomAD
rs772953212	p.Glu1420Gly	missense variant	-	NC_000015.10:g.88856844A>G	ExAC,gnomAD
rs760430869	p.Thr1421Ile	missense variant	-	NC_000015.10:g.88856847C>T	ExAC
rs35546357	p.Thr1422Ser	missense variant	-	NC_000015.10:g.88856849A>T	ESP,ExAC,TOPMed,gnomAD
rs35546357	p.Thr1422Ala	missense variant	-	NC_000015.10:g.88856849A>G	ESP,ExAC,TOPMed,gnomAD
RCV000343400	p.Thr1422Ala	missense variant	-	NC_000015.10:g.88856849A>G	ClinVar
rs35546357	p.Thr1422Pro	missense variant	-	NC_000015.10:g.88856849A>C	ESP,ExAC,TOPMed,gnomAD
rs1408782528	p.Thr1422Asn	missense variant	-	NC_000015.10:g.88856850C>A	gnomAD
rs759176877	p.Ala1423Val	missense variant	-	NC_000015.10:g.88856853C>T	ExAC
rs1468507534	p.Ala1423Thr	missense variant	-	NC_000015.10:g.88856852G>A	gnomAD
rs764734177	p.Pro1424Ser	missense variant	-	NC_000015.10:g.88856855C>T	ExAC,gnomAD
rs764734177	p.Pro1424Thr	missense variant	-	NC_000015.10:g.88856855C>A	ExAC,gnomAD
COSM3794498	p.Gly1425Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856859G>C	NCI-TCGA Cosmic
rs371237177	p.Val1426Ile	missense variant	-	NC_000015.10:g.88856861G>A	ESP,TOPMed,gnomAD
rs377697360	p.Asp1427Glu	missense variant	-	NC_000015.10:g.88856866T>G	TOPMed,gnomAD
rs1325890317	p.Asp1427Val	missense variant	-	NC_000015.10:g.88856865A>T	gnomAD
rs537253113	p.Glu1428Asp	missense variant	-	NC_000015.10:g.88856869G>C	1000Genomes,TOPMed,gnomAD
rs1264866347	p.Glu1428Gly	missense variant	-	NC_000015.10:g.88856868A>G	gnomAD
rs1233910747	p.Glu1428Gln	missense variant	-	NC_000015.10:g.88856867G>C	gnomAD
rs1202791425	p.Ile1429Thr	missense variant	-	NC_000015.10:g.88856871T>C	gnomAD
rs1268432953	p.Gly1431Arg	missense variant	-	NC_000015.10:g.88856876G>A	gnomAD
rs1486630474	p.Pro1433Leu	missense variant	-	NC_000015.10:g.88856883C>T	gnomAD
NCI-TCGA novel	p.Ser1434Ala	missense variant	-	NC_000015.10:g.88856885T>G	NCI-TCGA
COSM966230	p.Ser1434Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856886C>A	NCI-TCGA Cosmic
rs1184295083	p.Ser1434Phe	missense variant	-	NC_000015.10:g.88856886C>T	gnomAD
rs1433210685	p.Gly1435Val	missense variant	-	NC_000015.10:g.88856889G>T	gnomAD
rs1008142921	p.Gly1435Arg	missense variant	-	NC_000015.10:g.88856888G>A	TOPMed,gnomAD
rs1432082194	p.Glu1436Gly	missense variant	-	NC_000015.10:g.88856892A>G	gnomAD
rs1200794281	p.Glu1436Lys	missense variant	-	NC_000015.10:g.88856891G>A	gnomAD
NCI-TCGA novel	p.Glu1436Asp	missense variant	-	NC_000015.10:g.88856893A>T	NCI-TCGA
rs1346058798	p.Glu1439Ter	stop gained	-	NC_000015.10:g.88856900G>T	gnomAD
rs1455568775	p.Thr1440Asn	missense variant	-	NC_000015.10:g.88856904C>A	gnomAD
rs200437529	p.Thr1441Ala	missense variant	-	NC_000015.10:g.88856906A>G	ExAC,TOPMed,gnomAD
rs1387358007	p.Ala1442Val	missense variant	-	NC_000015.10:g.88856910C>T	gnomAD
rs1384365231	p.Ala1442Ser	missense variant	-	NC_000015.10:g.88856909G>T	gnomAD
rs1343551799	p.Gly1444Ter	stop gained	-	NC_000015.10:g.88856915G>T	gnomAD
rs757632511	p.Val1445Ala	missense variant	-	NC_000015.10:g.88856919T>C	ExAC
rs1288710054	p.Val1445Leu	missense variant	-	NC_000015.10:g.88856918G>T	gnomAD
rs781478525	p.Glu1446Asp	missense variant	-	NC_000015.10:g.88856923G>C	ExAC,TOPMed,gnomAD
rs1318458694	p.Glu1446Lys	missense variant	-	NC_000015.10:g.88856921G>A	gnomAD
rs781478525	p.Glu1446Asp	missense variant	-	NC_000015.10:g.88856923G>T	ExAC,TOPMed,gnomAD
rs112335908	p.Glu1447Lys	missense variant	-	NC_000015.10:g.88856924G>A	ExAC,gnomAD
RCV000455316	p.Glu1447Asp	missense variant	-	NC_000015.10:g.88856926G>C	ClinVar
NCI-TCGA novel	p.Glu1447Asp	missense variant	-	NC_000015.10:g.88856926G>T	NCI-TCGA
rs201505307	p.Glu1447Asp	missense variant	-	NC_000015.10:g.88856926G>C	ExAC,TOPMed,gnomAD
rs1224056384	p.Ile1448Phe	missense variant	-	NC_000015.10:g.88856927A>T	gnomAD
COSM966232	p.Ile1448Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856927A>G	NCI-TCGA Cosmic
rs768764707	p.Gly1450Arg	missense variant	-	NC_000015.10:g.88856933G>A	ExAC,gnomAD
COSM3969331	p.Gly1450Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856934G>T	NCI-TCGA Cosmic
rs1199278824	p.Pro1452Ser	missense variant	-	NC_000015.10:g.88856939C>T	gnomAD
rs1353713366	p.Ser1453Ala	missense variant	-	NC_000015.10:g.88856942T>G	TOPMed,gnomAD
rs1209165088	p.Gly1454Arg	missense variant	-	NC_000015.10:g.88856945G>A	TOPMed
NCI-TCGA novel	p.Gly1454Glu	missense variant	-	NC_000015.10:g.88856946G>A	NCI-TCGA
rs773110836	p.Glu1455Lys	missense variant	-	NC_000015.10:g.88856948G>A	ExAC,TOPMed,gnomAD
rs1275933879	p.Val1456Gly	missense variant	-	NC_000015.10:g.88856952T>G	TOPMed
rs760663774	p.Val1456Ile	missense variant	-	NC_000015.10:g.88856951G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu1457Ile	missense variant	-	NC_000015.10:g.88856954C>A	NCI-TCGA
COSM6078099	p.Leu1457Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88856955T>C	NCI-TCGA Cosmic
rs867412218	p.Thr1459Ser	missense variant	-	NC_000015.10:g.88856961C>G	TOPMed,gnomAD
rs867412218	p.Thr1459Ile	missense variant	-	NC_000015.10:g.88856961C>T	TOPMed,gnomAD
rs770753187	p.Ser1460Thr	missense variant	-	NC_000015.10:g.88856963T>A	ExAC,TOPMed,gnomAD
rs770753187	p.Ser1460Ala	missense variant	-	NC_000015.10:g.88856963T>G	ExAC,TOPMed,gnomAD
rs375536994	p.Thr1461Asn	missense variant	-	NC_000015.10:g.88856967C>A	ESP,ExAC,TOPMed,gnomAD
rs534608385	p.Thr1461Pro	missense variant	-	NC_000015.10:g.88856966A>C	1000Genomes,ExAC,TOPMed
rs534608385	p.Thr1461Ala	missense variant	-	NC_000015.10:g.88856966A>G	1000Genomes,ExAC,TOPMed
rs375536994	p.Thr1461Ile	missense variant	-	NC_000015.10:g.88856967C>T	ESP,ExAC,TOPMed,gnomAD
rs552723061	p.Ser1462Pro	missense variant	-	NC_000015.10:g.88856969T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs369619909	p.Ala1463Val	missense variant	-	NC_000015.10:g.88856973C>T	ESP,ExAC,TOPMed,gnomAD
rs369619909	p.Ala1463Gly	missense variant	-	NC_000015.10:g.88856973C>G	ESP,ExAC,TOPMed,gnomAD
rs781563383	p.Gly1465Glu	missense variant	-	NC_000015.10:g.88856979G>A	ExAC,TOPMed,gnomAD
rs892910896	p.Gly1465Arg	missense variant	-	NC_000015.10:g.88856978G>A	TOPMed
rs1247591202	p.Asp1466Tyr	missense variant	-	NC_000015.10:g.88856981G>T	gnomAD
rs1009988596	p.Asp1466Gly	missense variant	-	NC_000015.10:g.88856982A>G	TOPMed
rs368875483	p.Leu1467Val	missense variant	-	NC_000015.10:g.88856984C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368875483	p.Leu1467Phe	missense variant	-	NC_000015.10:g.88856984C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368875483	p.Leu1467Ile	missense variant	-	NC_000015.10:g.88856984C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1233899225	p.Gly1469Arg	missense variant	-	NC_000015.10:g.88856990G>C	TOPMed,gnomAD
rs1233899225	p.Gly1469Arg	missense variant	-	NC_000015.10:g.88856990G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu1470Phe	missense variant	-	NC_000015.10:g.88856993C>T	NCI-TCGA
rs376237216	p.Pro1471Ser	missense variant	-	NC_000015.10:g.88856996C>T	gnomAD
rs376237216	p.Pro1471Thr	missense variant	-	NC_000015.10:g.88856996C>A	gnomAD
rs1175834752	p.Pro1471Leu	missense variant	-	NC_000015.10:g.88856997C>T	gnomAD
COSM3505135	p.Ser1472Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857000C>T	NCI-TCGA Cosmic
rs770783402	p.Gly1474Arg	missense variant	-	NC_000015.10:g.88857005G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1474Glu	missense variant	-	NC_000015.10:g.88857006G>A	NCI-TCGA
rs770783402	p.Gly1474Arg	missense variant	-	NC_000015.10:g.88857005G>A	ExAC,TOPMed,gnomAD
rs776435976	p.Glu1475Asp	missense variant	-	NC_000015.10:g.88857010A>C	ExAC,TOPMed,gnomAD
rs1340506653	p.Val1476Gly	missense variant	-	NC_000015.10:g.88857012T>G	gnomAD
rs140867631	p.Leu1477Val	missense variant	-	NC_000015.10:g.88857014C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs775272723	p.Glu1478Ala	missense variant	-	NC_000015.10:g.88857018A>C	ExAC,gnomAD
rs775272723	p.Glu1478Val	missense variant	-	NC_000015.10:g.88857018A>T	ExAC,gnomAD
rs763634219	p.Ile1479Thr	missense variant	-	NC_000015.10:g.88857021T>C	ExAC,TOPMed,gnomAD
rs377592925	p.Ile1479Val	missense variant	-	NC_000015.10:g.88857020A>G	ESP,ExAC,gnomAD
rs774014880	p.Ser1480Phe	missense variant	-	NC_000015.10:g.88857024C>T	ExAC,gnomAD
rs1297367819	p.Ser1480Thr	missense variant	-	NC_000015.10:g.88857023T>A	TOPMed,gnomAD
rs1297367819	p.Ser1480Ala	missense variant	-	NC_000015.10:g.88857023T>G	TOPMed,gnomAD
COSM966234	p.Ser1480Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857024C>A	NCI-TCGA Cosmic
rs1312389951	p.Val1481Ala	missense variant	-	NC_000015.10:g.88857027T>C	TOPMed,gnomAD
rs1454267021	p.Val1481Ile	missense variant	-	NC_000015.10:g.88857026G>A	TOPMed,gnomAD
rs1454267021	p.Val1481Leu	missense variant	-	NC_000015.10:g.88857026G>C	TOPMed,gnomAD
rs1228493103	p.Ser1482Pro	missense variant	-	NC_000015.10:g.88857029T>C	TOPMed,gnomAD
rs1472559013	p.Gly1483Ala	missense variant	-	NC_000015.10:g.88857033G>C	TOPMed
rs762333984	p.Val1484Ile	missense variant	-	NC_000015.10:g.88857035G>A	ExAC
NCI-TCGA novel	p.Glu1485Asp	missense variant	-	NC_000015.10:g.88857040G>T	NCI-TCGA
NCI-TCGA novel	p.Glu1485Gln	missense variant	-	NC_000015.10:g.88857038G>C	NCI-TCGA
rs1190047071	p.Glu1485Gly	missense variant	-	NC_000015.10:g.88857039A>G	TOPMed
rs1309755283	p.Asp1486Gly	missense variant	-	NC_000015.10:g.88857042A>G	gnomAD
rs561163011	p.Asp1486Tyr	missense variant	-	NC_000015.10:g.88857041G>T	1000Genomes,ExAC,gnomAD
rs561163011	p.Asp1486Asn	missense variant	-	NC_000015.10:g.88857041G>A	1000Genomes,ExAC,gnomAD
rs200795001	p.Ile1487Leu	missense variant	-	NC_000015.10:g.88857044A>C	TOPMed
rs750980297	p.Ile1487Thr	missense variant	-	NC_000015.10:g.88857045T>C	ExAC,gnomAD
rs756412985	p.Leu1490Phe	missense variant	-	NC_000015.10:g.88857053C>T	ExAC,gnomAD
rs374560662	p.Pro1491Ser	missense variant	-	NC_000015.10:g.88857056C>T	ESP,ExAC,TOPMed,gnomAD
COSM5850018	p.Pro1491Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857057C>T	NCI-TCGA Cosmic
rs1444155069	p.Val1495Ala	missense variant	-	NC_000015.10:g.88857069T>C	gnomAD
rs1226117411	p.Val1495Ile	missense variant	-	NC_000015.10:g.88857068G>A	TOPMed
rs755195338	p.Val1496Ile	missense variant	-	NC_000015.10:g.88857071G>A	ExAC,TOPMed,gnomAD
rs1421621918	p.Thr1498Ser	missense variant	-	NC_000015.10:g.88857077A>T	gnomAD
rs1476151656	p.Ser1499Ala	missense variant	-	NC_000015.10:g.88857080T>G	TOPMed,gnomAD
rs528401051	p.Ser1501Pro	missense variant	-	NC_000015.10:g.88857086T>C	1000Genomes,ExAC,gnomAD
rs1406560855	p.Gly1502Ala	missense variant	-	NC_000015.10:g.88857090G>C	TOPMed,gnomAD
rs748195726	p.Gly1502Arg	missense variant	-	NC_000015.10:g.88857089G>A	ExAC,gnomAD
rs1330469395	p.Val1506Gly	missense variant	-	NC_000015.10:g.88857102T>G	TOPMed
rs981076313	p.Ser1507Arg	missense variant	-	NC_000015.10:g.88857106T>G	TOPMed
COSM3988195	p.Ser1507Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857106T>A	NCI-TCGA Cosmic
rs1321599348	p.Glu1508Lys	missense variant	-	NC_000015.10:g.88857107G>A	TOPMed
rs2882676	p.Glu1508Gly	missense variant	-	NC_000015.10:g.88857108A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000353807	p.Glu1508Ala	missense variant	-	NC_000015.10:g.88857108A>C	ClinVar
rs2882676	p.Glu1508Ala	missense variant	-	NC_000015.10:g.88857108A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2882676	p.Glu1508Ala	missense variant	-	NC_000015.10:g.88857108A>C	UniProt,dbSNP
VAR_080165	p.Glu1508Ala	missense variant	-	NC_000015.10:g.88857108A>C	UniProt
rs200479865	p.Leu1509Phe	missense variant	-	NC_000015.10:g.88857110C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769711367	p.Pro1510Leu	missense variant	-	NC_000015.10:g.88857114C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro1510Ser	missense variant	-	NC_000015.10:g.88857113C>T	NCI-TCGA
NCI-TCGA novel	p.Ser1511Leu	missense variant	-	NC_000015.10:g.88857117C>T	NCI-TCGA
rs1271398346	p.Gly1512Arg	missense variant	-	NC_000015.10:g.88857119G>A	gnomAD
rs1359202381	p.Gly1514Val	missense variant	-	NC_000015.10:g.88857126G>T	gnomAD
rs775432317	p.Glu1516Gln	missense variant	-	NC_000015.10:g.88857131G>C	ExAC,TOPMed,gnomAD
rs748894957	p.Glu1516Ala	missense variant	-	NC_000015.10:g.88857132A>C	ExAC,gnomAD
rs775432317	p.Glu1516Lys	missense variant	-	NC_000015.10:g.88857131G>A	ExAC,TOPMed,gnomAD
rs1324719028	p.Thr1517Ile	missense variant	-	NC_000015.10:g.88857135C>T	gnomAD
rs1261557278	p.Ala1519Thr	missense variant	-	NC_000015.10:g.88857140G>A	TOPMed,gnomAD
rs1261557278	p.Ala1519Ser	missense variant	-	NC_000015.10:g.88857140G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1520Phe	missense variant	-	NC_000015.10:g.88857144C>T	NCI-TCGA
COSM3505141	p.Gly1521Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857147G>A	NCI-TCGA Cosmic
rs1474434745	p.Asp1524Glu	missense variant	-	NC_000015.10:g.88857157C>A	gnomAD
rs1474434745	p.Asp1524Glu	missense variant	-	NC_000015.10:g.88857157C>G	gnomAD
rs761198297	p.Asp1524Asn	missense variant	-	NC_000015.10:g.88857155G>A	ExAC,gnomAD
rs1185863833	p.Leu1525Ile	missense variant	-	NC_000015.10:g.88857158C>A	gnomAD
rs773578351	p.Arg1527Gly	missense variant	-	NC_000015.10:g.88857164A>G	ExAC,gnomAD
rs761310519	p.Leu1528Phe	missense variant	-	NC_000015.10:g.88857167C>T	ExAC,gnomAD
rs919760300	p.Pro1529Leu	missense variant	-	NC_000015.10:g.88857171C>T	TOPMed
rs754214360	p.Gly1531Glu	missense variant	-	NC_000015.10:g.88857177G>A	ExAC
rs755141817	p.Glu1532Lys	missense variant	-	NC_000015.10:g.88857179G>A	ExAC,gnomAD
rs755141817	p.Glu1532Gln	missense variant	-	NC_000015.10:g.88857179G>C	ExAC,gnomAD
rs982889272	p.Glu1532Gly	missense variant	-	NC_000015.10:g.88857180A>G	TOPMed,gnomAD
rs765471639	p.Glu1533Gly	missense variant	-	NC_000015.10:g.88857183A>G	ExAC,gnomAD
rs1450591776	p.Glu1533Lys	missense variant	-	NC_000015.10:g.88857182G>A	TOPMed
rs752999140	p.Val1534Leu	missense variant	-	NC_000015.10:g.88857185G>C	ExAC,TOPMed,gnomAD
rs758382728	p.Leu1535Pro	missense variant	-	NC_000015.10:g.88857189T>C	ExAC,gnomAD
rs1344698529	p.Ser1538Phe	missense variant	-	NC_000015.10:g.88857198C>T	gnomAD
COSM966236	p.Ser1538Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857198C>A	NCI-TCGA Cosmic
rs750263558	p.Ala1539Val	missense variant	-	NC_000015.10:g.88857201C>T	ExAC,TOPMed,gnomAD
rs1286523457	p.Ser1540Phe	missense variant	-	NC_000015.10:g.88857204C>T	gnomAD
NCI-TCGA novel	p.Ser1540Tyr	missense variant	-	NC_000015.10:g.88857204C>A	NCI-TCGA
rs1445419747	p.Gly1541Ala	missense variant	-	NC_000015.10:g.88857207G>C	gnomAD
NCI-TCGA novel	p.Gly1541Val	missense variant	-	NC_000015.10:g.88857207G>T	NCI-TCGA
rs1379021081	p.Phe1542Val	missense variant	-	NC_000015.10:g.88857209T>G	TOPMed
COSM259285	p.Phe1542Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857210T>G	NCI-TCGA Cosmic
rs779949572	p.Asp1544Tyr	missense variant	-	NC_000015.10:g.88857215G>T	ExAC,gnomAD
rs749127093	p.Asp1544Val	missense variant	-	NC_000015.10:g.88857216A>T	ExAC,gnomAD
rs1347049491	p.Ser1546Arg	missense variant	-	NC_000015.10:g.88857221A>C	TOPMed,gnomAD
rs1347049491	p.Ser1546Cys	missense variant	-	NC_000015.10:g.88857221A>T	TOPMed,gnomAD
rs368770768	p.Gly1547Arg	missense variant	-	NC_000015.10:g.88857224G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000435049	p.Gly1547Arg	missense variant	-	NC_000015.10:g.88857224G>A	ClinVar
rs1325634176	p.Gly1547Val	missense variant	-	NC_000015.10:g.88857225G>T	TOPMed
NCI-TCGA novel	p.Pro1549His	missense variant	-	NC_000015.10:g.88857231C>A	NCI-TCGA
COSM2014918	p.Pro1549Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857230C>T	NCI-TCGA Cosmic
rs1470354378	p.Ser1550Phe	missense variant	-	NC_000015.10:g.88857234C>T	gnomAD
NCI-TCGA novel	p.Gly1551Val	missense variant	-	NC_000015.10:g.88857237G>T	NCI-TCGA
COSM3505145	p.Gly1552Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857240G>A	NCI-TCGA Cosmic
rs1159622069	p.Glu1553Asp	missense variant	-	NC_000015.10:g.88857244A>C	TOPMed
RCV000508982	p.Glu1553Ter	nonsense	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88857242G>T	ClinVar
rs1555456128	p.Glu1553Ter	stop gained	-	NC_000015.10:g.88857242G>T	-
rs944053619	p.Gly1554Arg	missense variant	-	NC_000015.10:g.88857245G>C	TOPMed
rs747893607	p.Gly1554Asp	missense variant	-	NC_000015.10:g.88857246G>A	ExAC,gnomAD
rs747893607	p.Gly1554Val	missense variant	-	NC_000015.10:g.88857246G>T	ExAC,gnomAD
rs771476372	p.Leu1555Val	missense variant	-	NC_000015.10:g.88857248C>G	ExAC,gnomAD
rs761692908	p.Glu1556Gln	missense variant	-	NC_000015.10:g.88857251G>C	TOPMed
rs193215219	p.Glu1556Val	missense variant	-	NC_000015.10:g.88857252A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761692908	p.Glu1556Lys	missense variant	-	NC_000015.10:g.88857251G>A	TOPMed
rs1246733880	p.Thr1557Asn	missense variant	-	NC_000015.10:g.88857255C>A	TOPMed
rs761111724	p.Ser1558Phe	missense variant	-	NC_000015.10:g.88857258C>T	ExAC,gnomAD
rs1330890307	p.Ala1559Ser	missense variant	-	NC_000015.10:g.88857260G>T	gnomAD
rs1330890307	p.Ala1559Pro	missense variant	-	NC_000015.10:g.88857260G>C	gnomAD
rs771449137	p.Gly1563Arg	missense variant	-	NC_000015.10:g.88857272G>C	ExAC,gnomAD
rs900122903	p.Asp1565Glu	missense variant	-	NC_000015.10:g.88857280C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp1565Asn	missense variant	-	NC_000015.10:g.88857278G>A	NCI-TCGA
rs765334806	p.Ser1567Gly	missense variant	-	NC_000015.10:g.88857284A>G	ExAC,TOPMed,gnomAD
rs373706146	p.Pro1570Leu	missense variant	-	NC_000015.10:g.88857294C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373706146	p.Pro1570His	missense variant	-	NC_000015.10:g.88857294C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1570Ser	missense variant	-	NC_000015.10:g.88857293C>T	NCI-TCGA
rs1292629085	p.Ser1571Pro	missense variant	-	NC_000015.10:g.88857296T>C	gnomAD
rs940778996	p.Glu1574Lys	missense variant	-	NC_000015.10:g.88857305G>A	gnomAD
rs752861429	p.Gly1575Val	missense variant	-	NC_000015.10:g.88857309G>T	ExAC,TOPMed,gnomAD
rs752861429	p.Gly1575Asp	missense variant	-	NC_000015.10:g.88857309G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1580Asp	missense variant	-	NC_000015.10:g.88857324C>A	NCI-TCGA
NCI-TCGA novel	p.Ser1581Tyr	missense variant	-	NC_000015.10:g.88857327C>A	NCI-TCGA
rs763243954	p.Gly1582Glu	missense variant	-	NC_000015.10:g.88857330G>A	ExAC,TOPMed,gnomAD
rs1448247978	p.Ala1583Thr	missense variant	-	NC_000015.10:g.88857332G>A	TOPMed,gnomAD
rs1448247978	p.Ala1583Ser	missense variant	-	NC_000015.10:g.88857332G>T	TOPMed,gnomAD
rs1438249197	p.Ala1583Gly	missense variant	-	NC_000015.10:g.88857333C>G	TOPMed,gnomAD
rs371634636	p.Glu1584Lys	missense variant	-	NC_000015.10:g.88857335G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Glu1584Asp	missense variant	-	NC_000015.10:g.88857337G>T	NCI-TCGA
COSM1478447	p.Glu1584Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857335G>C	NCI-TCGA Cosmic
rs1469339475	p.Asp1585Asn	missense variant	-	NC_000015.10:g.88857338G>A	gnomAD
rs1299082487	p.Leu1586Val	missense variant	-	NC_000015.10:g.88857341C>G	TOPMed
rs780109464	p.Ser1587Arg	missense variant	-	NC_000015.10:g.88857346T>G	ExAC,TOPMed,gnomAD
rs1422143751	p.Gly1588Trp	missense variant	-	NC_000015.10:g.88857347G>T	gnomAD
rs185250189	p.Pro1590Ser	missense variant	-	NC_000015.10:g.88857353C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM3887726	p.Pro1590Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857354C>T	NCI-TCGA Cosmic
rs1331259297	p.Gly1592Arg	missense variant	-	NC_000015.10:g.88857359G>A	gnomAD
NCI-TCGA novel	p.Gly1592Ter	stop gained	-	NC_000015.10:g.88857359G>T	NCI-TCGA
rs1446345401	p.Val1597Met	missense variant	-	NC_000015.10:g.88857374G>A	gnomAD
rs1315922771	p.Val1597Gly	missense variant	-	NC_000015.10:g.88857375T>G	gnomAD
NCI-TCGA novel	p.Gly1598Val	missense variant	-	NC_000015.10:g.88857378G>T	NCI-TCGA
rs1264852540	p.Asp1603Ala	missense variant	-	NC_000015.10:g.88857393A>C	gnomAD
rs1020047216	p.Lys1608Asn	missense variant	-	NC_000015.10:g.88857409A>T	TOPMed
rs777097401	p.Lys1608Thr	missense variant	-	NC_000015.10:g.88857408A>C	ExAC,gnomAD
rs1457110054	p.Pro1610Ser	missense variant	-	NC_000015.10:g.88857413C>T	gnomAD
rs553645490	p.Pro1610Leu	missense variant	-	NC_000015.10:g.88857414C>T	1000Genomes,ExAC,gnomAD
rs777098563	p.Gly1612Arg	missense variant	-	NC_000015.10:g.88857419G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1612Glu	missense variant	-	NC_000015.10:g.88857420G>A	NCI-TCGA
rs571130169	p.Gly1615Arg	missense variant	-	NC_000015.10:g.88857428G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1368439607	p.Ser1616Asn	missense variant	-	NC_000015.10:g.88857432G>A	gnomAD
rs375929386	p.Gly1617Arg	missense variant	-	NC_000015.10:g.88857434G>A	ESP,ExAC,TOPMed,gnomAD
rs764412011	p.Ala1619Pro	missense variant	-	NC_000015.10:g.88857440G>C	ExAC,gnomAD
rs1264991684	p.Glu1621Gly	missense variant	-	NC_000015.10:g.88857447A>G	TOPMed
rs28407189	p.Thr1622Ala	missense variant	-	NC_000015.10:g.88857449A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373469771	p.Ser1623Asn	missense variant	-	NC_000015.10:g.88857453G>A	ESP,ExAC,TOPMed,gnomAD
rs1312053022	p.Gly1624Asp	missense variant	-	NC_000015.10:g.88857456G>A	gnomAD
rs753824539	p.Pro1626Leu	missense variant	-	NC_000015.10:g.88857462C>T	ExAC,gnomAD
rs767764933	p.Pro1626Ser	missense variant	-	NC_000015.10:g.88857461C>T	ExAC,TOPMed,gnomAD
COSM3505155	p.Gly1628Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857468G>A	NCI-TCGA Cosmic
COSM393265	p.Gly1628Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857467G>A	NCI-TCGA Cosmic
rs752559366	p.Ser1630Thr	missense variant	-	NC_000015.10:g.88857474G>C	ExAC,TOPMed,gnomAD
rs764880375	p.Ser1630Gly	missense variant	-	NC_000015.10:g.88857473A>G	ExAC,gnomAD
rs1401323831	p.Gly1631Ser	missense variant	-	NC_000015.10:g.88857476G>A	TOPMed,gnomAD
rs557081659	p.Gly1631Asp	missense variant	-	NC_000015.10:g.88857477G>A	1000Genomes,ExAC,gnomAD
rs1401323831	p.Gly1631Arg	missense variant	-	NC_000015.10:g.88857476G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu1632Asp	missense variant	-	NC_000015.10:g.88857481G>T	NCI-TCGA
rs777446851	p.Glu1632Ala	missense variant	-	NC_000015.10:g.88857480A>C	ExAC,TOPMed,gnomAD
rs375957533	p.Tyr1633His	missense variant	-	NC_000015.10:g.88857482T>C	ESP,ExAC,TOPMed,gnomAD
rs575457851	p.Gly1635Arg	missense variant	-	NC_000015.10:g.88857488G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM6078097	p.Gly1635Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857489G>A	NCI-TCGA Cosmic
rs1429711449	p.Val1636Met	missense variant	-	NC_000015.10:g.88857491G>A	gnomAD
rs780687613	p.Asp1637Gly	missense variant	-	NC_000015.10:g.88857495A>G	ExAC,gnomAD
rs1422102077	p.Ser1640Asn	missense variant	-	NC_000015.10:g.88857504G>A	gnomAD
rs746318703	p.Gly1641Ser	missense variant	-	NC_000015.10:g.88857506G>A	ExAC,gnomAD
rs770360505	p.Gly1641Val	missense variant	-	NC_000015.10:g.88857507G>T	ExAC,TOPMed,gnomAD
rs1408624060	p.Pro1642Leu	missense variant	-	NC_000015.10:g.88857510C>T	gnomAD
COSM966238	p.Pro1643Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857512C>T	NCI-TCGA Cosmic
rs1468454210	p.Pro1643Ala	missense variant	-	NC_000015.10:g.88857512C>G	gnomAD
NCI-TCGA novel	p.Ser1644Phe	missense variant	-	NC_000015.10:g.88857516C>T	NCI-TCGA
rs1429853960	p.Asp1648Gly	missense variant	-	NC_000015.10:g.88857528A>G	TOPMed
rs1253719216	p.Ser1650Thr	missense variant	-	NC_000015.10:g.88857534G>C	TOPMed
COSM5384063	p.Pro1653Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857543C>T	NCI-TCGA Cosmic
rs775681178	p.Ser1654Cys	missense variant	-	NC_000015.10:g.88857546C>G	ExAC,TOPMed,gnomAD
rs1383991847	p.Gly1655Ala	missense variant	-	NC_000015.10:g.88857549G>C	gnomAD
NCI-TCGA novel	p.Gly1655Arg	missense variant	-	NC_000015.10:g.88857548G>A	NCI-TCGA
rs749633671	p.Thr1658Ala	missense variant	-	NC_000015.10:g.88857557A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1658Ile	missense variant	-	NC_000015.10:g.88857558C>T	NCI-TCGA
rs368698066	p.Val1659Leu	missense variant	-	NC_000015.10:g.88857560G>C	ESP,ExAC,TOPMed,gnomAD
rs1223935840	p.Ser1660Tyr	missense variant	-	NC_000015.10:g.88857564C>A	gnomAD
COSM259286	p.Ser1664Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857576C>T	NCI-TCGA Cosmic
rs1260878311	p.Val1667Leu	missense variant	-	NC_000015.10:g.88857584G>C	gnomAD
rs1260878311	p.Val1667Met	missense variant	-	NC_000015.10:g.88857584G>A	gnomAD
NCI-TCGA novel	p.Glu1668Gly	missense variant	-	NC_000015.10:g.88857588A>G	NCI-TCGA
rs1457280159	p.Thr1671Arg	missense variant	-	NC_000015.10:g.88857597C>G	TOPMed
NCI-TCGA novel	p.Ala1672Asp	missense variant	-	NC_000015.10:g.88857600C>A	NCI-TCGA
rs773436927	p.Ala1672Val	missense variant	-	NC_000015.10:g.88857600C>T	ExAC,TOPMed,gnomAD
rs767636199	p.Ala1672Thr	missense variant	-	NC_000015.10:g.88857599G>A	ExAC,gnomAD
rs759342865	p.Thr1674Ala	missense variant	-	NC_000015.10:g.88857605A>G	ExAC,gnomAD
rs1488231630	p.Thr1674Ile	missense variant	-	NC_000015.10:g.88857606C>T	TOPMed,gnomAD
rs1488231630	p.Thr1674Asn	missense variant	-	NC_000015.10:g.88857606C>A	TOPMed,gnomAD
COSM3505165	p.Glu1677Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857615A>G	NCI-TCGA Cosmic
rs1200729087	p.Glu1679Asp	missense variant	-	NC_000015.10:g.88857622A>C	gnomAD
rs1320141954	p.Gly1680Glu	missense variant	-	NC_000015.10:g.88857624G>A	TOPMed
rs1243193420	p.Arg1681Lys	missense variant	-	NC_000015.10:g.88857627G>A	gnomAD
rs542821166	p.Ile1686Leu	missense variant	-	NC_000015.10:g.88857641A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs542821166	p.Ile1686Phe	missense variant	-	NC_000015.10:g.88857641A>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000757906	p.Ser1687Arg	missense variant	Spondyloepimetaphyseal dysplasia, Aggrecan type (SEMDAG)	NC_000015.10:g.88857646T>A	ClinVar
rs752613906	p.Gly1688Ala	missense variant	-	NC_000015.10:g.88857648G>C	ExAC,gnomAD
rs758186439	p.Ala1689Thr	missense variant	-	NC_000015.10:g.88857650G>A	ExAC,gnomAD
rs1385492222	p.Glu1691Lys	missense variant	-	NC_000015.10:g.88857656G>A	TOPMed
rs763850127	p.Ile1692Val	missense variant	-	NC_000015.10:g.88857659A>G	ExAC,TOPMed,gnomAD
rs372919059	p.Ser1693Tyr	missense variant	-	NC_000015.10:g.88857663C>A	ESP,ExAC,TOPMed,gnomAD
rs375118386	p.Ser1698Asn	missense variant	-	NC_000015.10:g.88857678G>A	ESP,ExAC,gnomAD
COSM3505167	p.Asp1701Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857686G>A	NCI-TCGA Cosmic
rs780589006	p.Ser1703Gly	missense variant	-	NC_000015.10:g.88857692A>G	ExAC,gnomAD
COSM1375284	p.Ser1703Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857693G>C	NCI-TCGA Cosmic
rs749818585	p.Ala1706Thr	missense variant	-	NC_000015.10:g.88857701G>A	ExAC,gnomAD
rs1236301804	p.Ala1706Val	missense variant	-	NC_000015.10:g.88857702C>T	TOPMed,gnomAD
rs774861720	p.Ser1707Arg	missense variant	-	NC_000015.10:g.88857704A>C	ExAC,gnomAD
rs773385814	p.Leu1709Val	missense variant	-	NC_000015.10:g.88857710C>G	ExAC,gnomAD
rs773385814	p.Leu1709Phe	missense variant	-	NC_000015.10:g.88857710C>T	ExAC,gnomAD
rs760776040	p.Gly1712Glu	missense variant	-	NC_000015.10:g.88857720G>A	ExAC,gnomAD
COSM966240	p.Thr1713Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857722A>T	NCI-TCGA Cosmic
rs1424060208	p.Leu1715Arg	missense variant	-	NC_000015.10:g.88857729T>G	TOPMed
rs1424060208	p.Leu1715Pro	missense variant	-	NC_000015.10:g.88857729T>C	TOPMed
NCI-TCGA novel	p.Leu1715Ile	missense variant	-	NC_000015.10:g.88857728C>A	NCI-TCGA
rs766415216	p.Ser1716Arg	missense variant	-	NC_000015.10:g.88857731A>C	ExAC,TOPMed,gnomAD
rs79925540	p.Ser1716Ile	missense variant	-	NC_000015.10:g.88857732G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79925540	p.Ser1716Asn	missense variant	-	NC_000015.10:g.88857732G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762862465	p.Ala1719Val	missense variant	-	NC_000015.10:g.88857741C>T	ExAC,TOPMed,gnomAD
rs762862465	p.Ala1719Glu	missense variant	-	NC_000015.10:g.88857741C>A	ExAC,TOPMed,gnomAD
COSM3377736	p.Ala1719Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857740G>T	NCI-TCGA Cosmic
COSM278572	p.Ser1720Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857744C>A	NCI-TCGA Cosmic
rs1157033153	p.Ser1722Thr	missense variant	-	NC_000015.10:g.88857749T>A	gnomAD
rs200794149	p.Ser1722Cys	missense variant	-	NC_000015.10:g.88857750C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1722Tyr	missense variant	-	NC_000015.10:g.88857750C>A	NCI-TCGA
rs751379789	p.Pro1723Leu	missense variant	-	NC_000015.10:g.88857753C>T	ExAC,gnomAD
rs781449978	p.Pro1723Ser	missense variant	-	NC_000015.10:g.88857752C>T	TOPMed
rs1165463039	p.Asp1724Asn	missense variant	-	NC_000015.10:g.88857755G>A	TOPMed,gnomAD
rs1165463039	p.Asp1724His	missense variant	-	NC_000015.10:g.88857755G>C	TOPMed,gnomAD
rs1348032187	p.Ser1726Thr	missense variant	-	NC_000015.10:g.88857762G>C	gnomAD
NCI-TCGA novel	p.Ser1726Ile	missense variant	-	NC_000015.10:g.88857762G>T	NCI-TCGA
rs1435559307	p.Gly1727Arg	missense variant	-	NC_000015.10:g.88857764G>A	gnomAD
NCI-TCGA novel	p.Glu1728GlyPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.88857763_88857764insG	NCI-TCGA
rs761419550	p.Pro1730Ser	missense variant	-	NC_000015.10:g.88857773C>T	ExAC,gnomAD
rs1205184956	p.Pro1730His	missense variant	-	NC_000015.10:g.88857774C>A	TOPMed,gnomAD
rs1389341484	p.Gly1731Val	missense variant	-	NC_000015.10:g.88857777G>T	gnomAD
NCI-TCGA novel	p.Leu1732His	missense variant	-	NC_000015.10:g.88857780T>A	NCI-TCGA
rs750092063	p.Phe1733Leu	missense variant	-	NC_000015.10:g.88857784T>G	ExAC,gnomAD
rs1247515901	p.Val1735Ile	missense variant	-	NC_000015.10:g.88857788G>A	gnomAD
NCI-TCGA novel	p.Gly1737Glu	missense variant	-	NC_000015.10:g.88857795G>A	NCI-TCGA
rs1294649751	p.Gln1738His	missense variant	-	NC_000015.10:g.88857799G>T	gnomAD
rs962063980	p.Pro1739Thr	missense variant	-	NC_000015.10:g.88857800C>A	TOPMed,gnomAD
rs748666817	p.Gly1741Arg	missense variant	-	NC_000015.10:g.88857806G>C	TOPMed
rs748666817	p.Gly1741Arg	missense variant	-	NC_000015.10:g.88857806G>A	TOPMed
COSM4057722	p.Gly1741Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857807G>T	NCI-TCGA Cosmic
rs779498521	p.Phe1742Leu	missense variant	-	NC_000015.10:g.88857809T>C	ExAC,gnomAD
COSM4398295	p.Pro1743Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857812C>T	NCI-TCGA Cosmic
rs1481791889	p.Asp1744Gly	missense variant	-	NC_000015.10:g.88857816A>G	gnomAD
rs1239958387	p.Asp1744Asn	missense variant	-	NC_000015.10:g.88857815G>A	TOPMed
rs1177004091	p.Thr1745Pro	missense variant	-	NC_000015.10:g.88857818A>C	gnomAD
rs754305276	p.Thr1745Ile	missense variant	-	NC_000015.10:g.88857819C>T	ExAC,TOPMed,gnomAD
rs755451428	p.Ser1746Asn	missense variant	-	NC_000015.10:g.88857822G>A	ExAC,gnomAD
rs1441661375	p.Gly1747Arg	missense variant	-	NC_000015.10:g.88857824G>A	gnomAD
rs1411585276	p.Gly1747Glu	missense variant	-	NC_000015.10:g.88857825G>A	gnomAD
rs1404723937	p.Glu1748Ala	missense variant	-	NC_000015.10:g.88857828A>C	gnomAD
rs779369587	p.Thr1749Ile	missense variant	-	NC_000015.10:g.88857831C>T	ExAC,gnomAD
rs367732005	p.Ser1750Pro	missense variant	-	NC_000015.10:g.88857833T>C	ESP,ExAC,gnomAD
rs371211794	p.Gly1751Glu	missense variant	-	NC_000015.10:g.88857837G>A	ESP,ExAC,TOPMed,gnomAD
rs371211794	p.Gly1751Ala	missense variant	-	NC_000015.10:g.88857837G>C	ESP,ExAC,TOPMed,gnomAD
rs770225009	p.Thr1753Ala	missense variant	-	NC_000015.10:g.88857842A>G	ExAC,gnomAD
rs1454159116	p.Glu1754Lys	missense variant	-	NC_000015.10:g.88857845G>A	gnomAD
rs367925946	p.Leu1755His	missense variant	-	NC_000015.10:g.88857849T>A	ESP,ExAC,gnomAD
rs1281959099	p.Leu1755Ile	missense variant	-	NC_000015.10:g.88857848C>A	gnomAD
rs202054679	p.Gly1757Arg	missense variant	-	NC_000015.10:g.88857854G>C	ExAC,TOPMed,gnomAD
rs202054679	p.Gly1757Arg	missense variant	-	NC_000015.10:g.88857854G>A	ExAC,TOPMed,gnomAD
rs868024119	p.Ser1759Phe	missense variant	-	NC_000015.10:g.88857861C>T	gnomAD
rs1458046738	p.Gly1764Ser	missense variant	-	NC_000015.10:g.88857875G>A	TOPMed
rs4932439	p.Ile1765Val	missense variant	-	NC_000015.10:g.88857878A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1156608507	p.Ile1765Thr	missense variant	-	NC_000015.10:g.88857879T>C	TOPMed
rs774316706	p.Ser1766Ile	missense variant	-	NC_000015.10:g.88857882G>T	ExAC,TOPMed,gnomAD
rs774316706	p.Ser1766Thr	missense variant	-	NC_000015.10:g.88857882G>C	ExAC,TOPMed,gnomAD
rs1438922050	p.Gly1767Glu	missense variant	-	NC_000015.10:g.88857885G>A	TOPMed
rs1461918354	p.Glu1768Lys	missense variant	-	NC_000015.10:g.88857887G>A	gnomAD
rs1046979964	p.Ala1769Glu	missense variant	-	NC_000015.10:g.88857891C>A	TOPMed,gnomAD
rs761577704	p.Ser1770Pro	missense variant	-	NC_000015.10:g.88857893T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1770Tyr	missense variant	-	NC_000015.10:g.88857894C>A	NCI-TCGA
rs147886342	p.Leu1773Pro	missense variant	-	NC_000015.10:g.88857903T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM5384065	p.Leu1773Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857902C>T	NCI-TCGA Cosmic
rs767359295	p.Leu1773Ile	missense variant	-	NC_000015.10:g.88857902C>A	ExAC,TOPMed,gnomAD
rs767359295	p.Leu1773Val	missense variant	-	NC_000015.10:g.88857902C>G	ExAC,TOPMed,gnomAD
rs1169658352	p.Tyr1774Cys	missense variant	-	NC_000015.10:g.88857906A>G	gnomAD
rs565190001	p.Tyr1774Asp	missense variant	-	NC_000015.10:g.88857905T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs565190001	p.Tyr1774His	missense variant	-	NC_000015.10:g.88857905T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1406497472	p.Tyr1774Ter	stop gained	-	NC_000015.10:g.88857907T>G	gnomAD
rs1470767236	p.Gly1775Asp	missense variant	-	NC_000015.10:g.88857909G>A	gnomAD
rs755500324	p.Ser1777Asn	missense variant	-	NC_000015.10:g.88857915G>A	ExAC,TOPMed,gnomAD
rs755500324	p.Ser1777Thr	missense variant	-	NC_000015.10:g.88857915G>C	ExAC,TOPMed,gnomAD
rs1358079504	p.Ser1777Gly	missense variant	-	NC_000015.10:g.88857914A>G	gnomAD
rs1290025738	p.Gln1778Glu	missense variant	-	NC_000015.10:g.88857917C>G	gnomAD
rs1342910294	p.Pro1779Arg	missense variant	-	NC_000015.10:g.88857921C>G	gnomAD
rs1277998022	p.Asp1784Glu	missense variant	-	NC_000015.10:g.88857937T>A	gnomAD
COSM5070147	p.Asp1784Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857935G>A	NCI-TCGA Cosmic
rs779530084	p.Asp1784Gly	missense variant	-	NC_000015.10:g.88857936A>G	ExAC,gnomAD
rs139182220	p.Leu1785Val	missense variant	-	NC_000015.10:g.88857938C>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM4057724	p.Ser1786Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857941A>C	NCI-TCGA Cosmic
rs778345442	p.Ser1786Asn	missense variant	-	NC_000015.10:g.88857942G>A	ExAC,gnomAD
COSM4895740	p.Glu1788Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857947G>A	NCI-TCGA Cosmic
rs1441976736	p.Thr1789Ile	missense variant	-	NC_000015.10:g.88857951C>T	gnomAD
rs201149160	p.Ser1790Thr	missense variant	-	NC_000015.10:g.88857953T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1790Phe	missense variant	-	NC_000015.10:g.88857954C>T	NCI-TCGA
COSM966243	p.Ser1790Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88857954C>A	NCI-TCGA Cosmic
rs1053968435	p.Gly1791Glu	missense variant	-	NC_000015.10:g.88857957G>A	TOPMed,gnomAD
rs771069320	p.Val1792Asp	missense variant	-	NC_000015.10:g.88857960T>A	ExAC,TOPMed,gnomAD
rs377189756	p.Pro1793Ala	missense variant	-	NC_000015.10:g.88857962C>G	ESP,TOPMed,gnomAD
rs377189756	p.Pro1793Ser	missense variant	-	NC_000015.10:g.88857962C>T	ESP,TOPMed,gnomAD
rs745908761	p.Leu1795Ile	missense variant	-	NC_000015.10:g.88857968C>A	ExAC,TOPMed,gnomAD
rs769915833	p.Gly1797Ala	missense variant	-	NC_000015.10:g.88857975G>C	ExAC
NCI-TCGA novel	p.Gly1797Glu	missense variant	-	NC_000015.10:g.88857975G>A	NCI-TCGA
NCI-TCGA novel	p.Gln1798Arg	missense variant	-	NC_000015.10:g.88857978A>G	NCI-TCGA
RCV000508991	p.Gln1798Ter	frameshift	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88857976del	ClinVar
rs748151960	p.Gly1801Glu	missense variant	-	NC_000015.10:g.88857987G>A	ExAC,TOPMed,gnomAD
rs1385354905	p.Ser1806Asn	missense variant	-	NC_000015.10:g.88858002G>A	TOPMed
rs368893175	p.Ser1806Arg	missense variant	-	NC_000015.10:g.88858003T>G	ESP,ExAC,TOPMed,gnomAD
rs772897999	p.Gly1807Arg	missense variant	-	NC_000015.10:g.88858004G>A	ExAC,gnomAD
rs1298061114	p.Gly1811Glu	missense variant	-	NC_000015.10:g.88858017G>A	gnomAD
NCI-TCGA novel	p.Gly1811Arg	missense variant	-	NC_000015.10:g.88858016G>A	NCI-TCGA
NCI-TCGA novel	p.Val1816Asp	missense variant	-	NC_000015.10:g.88858032T>A	NCI-TCGA
COSM3887730	p.Val1816Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858031G>A	NCI-TCGA Cosmic
rs765977317	p.Val1816Phe	missense variant	-	NC_000015.10:g.88858031G>T	ExAC,gnomAD
rs1439038423	p.Val1816Ala	missense variant	-	NC_000015.10:g.88858032T>C	gnomAD
rs776385464	p.Gly1818Asp	missense variant	-	NC_000015.10:g.88858038G>A	ExAC,gnomAD
rs759095494	p.Thr1819Ser	missense variant	-	NC_000015.10:g.88858040A>T	ExAC,TOPMed,gnomAD
rs759095494	p.Thr1819Ala	missense variant	-	NC_000015.10:g.88858040A>G	ExAC,TOPMed,gnomAD
rs758975213	p.Thr1820Ala	missense variant	-	NC_000015.10:g.88858043A>G	ExAC,gnomAD
rs962377192	p.Thr1820Met	missense variant	-	NC_000015.10:g.88858044C>T	gnomAD
rs781252881	p.Gly1824Asp	missense variant	-	NC_000015.10:g.88858056G>A	ExAC,TOPMed,gnomAD
rs375361510	p.Gly1824Ser	missense variant	-	NC_000015.10:g.88858055G>A	ESP,ExAC,TOPMed,gnomAD
rs1470324203	p.Glu1825Val	missense variant	-	NC_000015.10:g.88858059A>T	gnomAD
rs369426643	p.Glu1825Gln	missense variant	-	NC_000015.10:g.88858058G>C	ESP,ExAC,TOPMed,gnomAD
rs369426643	p.Glu1825Lys	missense variant	-	NC_000015.10:g.88858058G>A	ESP,ExAC,TOPMed,gnomAD
rs756182341	p.Ser1827Ala	missense variant	-	NC_000015.10:g.88858064T>G	ExAC,TOPMed,gnomAD
rs772021322	p.Ile1829Thr	missense variant	-	NC_000015.10:g.88858071T>C	ExAC,gnomAD
rs773018294	p.Thr1830Ile	missense variant	-	NC_000015.10:g.88858074C>T	ExAC,gnomAD
COSM265949	p.Thr1830Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858074C>A	NCI-TCGA Cosmic
rs1257157422	p.Phe1831Leu	missense variant	-	NC_000015.10:g.88858076T>C	TOPMed
rs376225697	p.Phe1831Tyr	missense variant	-	NC_000015.10:g.88858077T>A	ESP,ExAC,TOPMed,gnomAD
rs370620670	p.Val1832Met	missense variant	-	NC_000015.10:g.88858079G>A	ESP,ExAC,TOPMed,gnomAD
rs370620670	p.Val1832Leu	missense variant	-	NC_000015.10:g.88858079G>T	ESP,ExAC,TOPMed,gnomAD
rs1275794764	p.Asp1833His	missense variant	-	NC_000015.10:g.88858082G>C	TOPMed
rs1311657115	p.Val1837Ile	missense variant	-	NC_000015.10:g.88858094G>A	gnomAD
rs759325407	p.Val1839Met	missense variant	-	NC_000015.10:g.88858100G>A	ExAC,gnomAD
rs764769401	p.Val1839Ala	missense variant	-	NC_000015.10:g.88858101T>C	ExAC,gnomAD
rs373484583	p.Ala1840Ser	missense variant	-	NC_000015.10:g.88858103G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1841LeuPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.88858104C>-	NCI-TCGA
rs1358337688	p.Thr1842Ala	missense variant	-	NC_000015.10:g.88858109A>G	TOPMed,gnomAD
rs763502181	p.Thr1842Ile	missense variant	-	NC_000015.10:g.88858110C>T	ExAC,gnomAD
rs764480078	p.Phe1844Leu	missense variant	-	NC_000015.10:g.88858117T>G	ExAC,TOPMed,gnomAD
rs752160788	p.Glu1847Val	missense variant	-	NC_000015.10:g.88858125A>T	ExAC,gnomAD
rs1438593382	p.Glu1848Asp	missense variant	-	NC_000015.10:g.88858129A>C	gnomAD
rs1235973672	p.Glu1848Gly	missense variant	-	NC_000015.10:g.88858128A>G	gnomAD
rs1470933918	p.Glu1848Lys	missense variant	-	NC_000015.10:g.88858127G>A	TOPMed
rs34124958	p.Gly1849Val	missense variant	-	NC_000015.10:g.88858131G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34124958	p.Gly1849Ala	missense variant	-	NC_000015.10:g.88858131G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1161919136	p.Gly1851Arg	missense variant	-	NC_000015.10:g.88858136G>C	gnomAD
rs1410879320	p.Val1853Leu	missense variant	-	NC_000015.10:g.88858142G>C	gnomAD
rs780061518	p.Glu1854Lys	missense variant	-	NC_000015.10:g.88858145G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1854Ala	missense variant	-	NC_000015.10:g.88858146A>C	NCI-TCGA
rs74505897	p.Leu1855Phe	missense variant	-	NC_000015.10:g.88858148C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200762388	p.Ser1856Asn	missense variant	-	NC_000015.10:g.88858152G>A	ESP,ExAC,TOPMed,gnomAD
RCV000437148	p.Ser1856Asn	missense variant	-	NC_000015.10:g.88858152G>A	ClinVar
rs777548435	p.Gly1857Val	missense variant	-	NC_000015.10:g.88858155G>T	ExAC,gnomAD
rs747025643	p.Pro1859Thr	missense variant	-	NC_000015.10:g.88858160C>A	ExAC,gnomAD
rs770623698	p.Ser1860Phe	missense variant	-	NC_000015.10:g.88858164C>T	ExAC,gnomAD
rs770623698	p.Ser1860Tyr	missense variant	-	NC_000015.10:g.88858164C>A	ExAC,gnomAD
rs201212378	p.Gly1861Arg	missense variant	-	NC_000015.10:g.88858166G>A	ESP,ExAC,TOPMed,gnomAD
rs267604367	p.Glu1862Lys	missense variant	-	NC_000015.10:g.88858169G>A	TOPMed
rs567724750	p.Leu1865Pro	missense variant	-	NC_000015.10:g.88858179T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs567724750	p.Leu1865Gln	missense variant	-	NC_000015.10:g.88858179T>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1870Glu	missense variant	-	NC_000015.10:g.88858194G>A	NCI-TCGA
rs768274558	p.Val1872Met	missense variant	-	NC_000015.10:g.88858199G>A	ExAC,TOPMed,gnomAD
rs762387037	p.Asp1873His	missense variant	-	NC_000015.10:g.88858202G>C	ExAC,gnomAD
rs767716936	p.Asp1873Glu	missense variant	-	NC_000015.10:g.88858204T>G	ExAC,gnomAD
rs1368391122	p.Ser1875Cys	missense variant	-	NC_000015.10:g.88858208A>T	gnomAD
rs750810730	p.Ser1875Asn	missense variant	-	NC_000015.10:g.88858209G>A	ExAC,TOPMed
COSM6143193	p.Gly1876Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858211G>A	NCI-TCGA Cosmic
rs546936803	p.Gly1876Glu	missense variant	-	NC_000015.10:g.88858212G>A	1000Genomes,ExAC,gnomAD
rs766554442	p.Gln1877Glu	missense variant	-	NC_000015.10:g.88858214C>G	ExAC,gnomAD
rs766554442	p.Gln1877Lys	missense variant	-	NC_000015.10:g.88858214C>A	ExAC,gnomAD
rs766554442	p.Gln1877Ter	stop gained	-	NC_000015.10:g.88858214C>T	ExAC,gnomAD
rs1454451933	p.Gly1880Val	missense variant	-	NC_000015.10:g.88858224G>T	TOPMed
rs754999272	p.Val1882Ile	missense variant	-	NC_000015.10:g.88858229G>A	ExAC,gnomAD
rs757229334	p.Asp1883Asn	missense variant	-	NC_000015.10:g.88858232G>A	ExAC,TOPMed,gnomAD
rs757229334	p.Asp1883Tyr	missense variant	-	NC_000015.10:g.88858232G>T	ExAC,TOPMed,gnomAD
rs769763273	p.Gly1886Glu	missense variant	-	NC_000015.10:g.88858242G>A	ExAC,TOPMed
rs377284915	p.Thr1888Ile	missense variant	-	NC_000015.10:g.88858248C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ser1889Phe	missense variant	-	NC_000015.10:g.88858251C>T	NCI-TCGA
rs767984963	p.Pro1892Ser	missense variant	-	NC_000015.10:g.88858259C>T	ExAC,gnomAD
rs368491136	p.Pro1892Leu	missense variant	-	NC_000015.10:g.88858260C>T	ESP,ExAC,TOPMed,gnomAD
rs368491136	p.Pro1892Arg	missense variant	-	NC_000015.10:g.88858260C>G	ESP,ExAC,TOPMed,gnomAD
rs368491136	p.Pro1892Gln	missense variant	-	NC_000015.10:g.88858260C>A	ESP,ExAC,TOPMed,gnomAD
rs773746919	p.Gly1896Asp	missense variant	-	NC_000015.10:g.88858272G>A	ExAC,gnomAD
rs761003367	p.Pro1898Ser	missense variant	-	NC_000015.10:g.88858277C>T	ExAC,TOPMed,gnomAD
rs1482024694	p.Ser1899Gly	missense variant	-	NC_000015.10:g.88858280A>G	gnomAD
rs190099162	p.Ser1899Asn	missense variant	-	NC_000015.10:g.88858281G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759804072	p.Ala1902Val	missense variant	-	NC_000015.10:g.88858290C>T	ExAC,gnomAD
rs765168922	p.Ser1905Asn	missense variant	-	NC_000015.10:g.88858299G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1906Arg	missense variant	-	NC_000015.10:g.88858301G>A	NCI-TCGA
rs1437942537	p.Ser1908Cys	missense variant	-	NC_000015.10:g.88858308C>G	TOPMed
rs761774197	p.Ser1909Cys	missense variant	-	NC_000015.10:g.88858311C>G	ExAC,TOPMed,gnomAD
COSM4843246	p.Arg1910Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858314G>A	NCI-TCGA Cosmic
rs757101081	p.Ala1911Thr	missense variant	-	NC_000015.10:g.88858316G>A	ExAC,gnomAD
rs1207648352	p.Glu1912Ala	missense variant	-	NC_000015.10:g.88858320A>C	TOPMed
rs1379576088	p.Ile1913Thr	missense variant	-	NC_000015.10:g.88858323T>C	TOPMed,gnomAD
rs1464651103	p.Gly1914Arg	missense variant	-	NC_000015.10:g.88858325G>A	gnomAD
rs781254805	p.Ser1915Asn	missense variant	-	NC_000015.10:g.88858329G>A	ExAC,TOPMed,gnomAD
rs781254805	p.Ser1915Thr	missense variant	-	NC_000015.10:g.88858329G>C	ExAC,TOPMed,gnomAD
COSM3505179	p.Ser1916Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858332G>A	NCI-TCGA Cosmic
rs748839172	p.Leu1917Arg	missense variant	-	NC_000015.10:g.88858335T>G	ExAC,TOPMed,gnomAD
rs200271564	p.Ser1919Leu	missense variant	-	NC_000015.10:g.88858341C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1921Thr	missense variant	-	NC_000015.10:g.88858346G>A	NCI-TCGA
rs1232021508	p.Tyr1922Ser	missense variant	-	NC_000015.10:g.88858350A>C	gnomAD
rs1260822539	p.Tyr1923Cys	missense variant	-	NC_000015.10:g.88858353A>G	TOPMed,gnomAD
rs1219436287	p.Ser1925Arg	missense variant	-	NC_000015.10:g.88858360T>G	gnomAD
rs1272335949	p.Gly1926Glu	missense variant	-	NC_000015.10:g.88858362G>A	TOPMed,gnomAD
rs373374575	p.Thr1927Ala	missense variant	-	NC_000015.10:g.88858364A>G	ESP,ExAC,TOPMed,gnomAD
COSM3887732	p.Pro1928Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858368C>T	NCI-TCGA Cosmic
rs1007684024	p.Ser1930Gly	missense variant	-	NC_000015.10:g.88858373A>G	TOPMed
COSM3690594	p.Ser1930Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858374G>T	NCI-TCGA Cosmic
rs1380186484	p.Pro1932Leu	missense variant	-	NC_000015.10:g.88858380C>T	TOPMed
rs1178236790	p.Thr1933Pro	missense variant	-	NC_000015.10:g.88858382A>C	TOPMed
rs1269865037	p.Thr1933Ile	missense variant	-	NC_000015.10:g.88858383C>T	gnomAD
rs76282091	p.Val1934Ile	missense variant	-	NC_000015.10:g.88858385G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs76282091	p.Val1934Leu	missense variant	-	NC_000015.10:g.88858385G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs996608087	p.Leu1936Pro	missense variant	-	NC_000015.10:g.88858392T>C	TOPMed,gnomAD
rs1156843603	p.Asp1938Glu	missense variant	-	NC_000015.10:g.88858399C>G	gnomAD
rs1421590411	p.Asp1938Val	missense variant	-	NC_000015.10:g.88858398A>T	gnomAD
rs1224415651	p.Thr1940Asn	missense variant	-	NC_000015.10:g.88858404C>A	TOPMed
rs1351288020	p.Val1942Leu	missense variant	-	NC_000015.10:g.88858409G>T	TOPMed
rs1359805458	p.Glu1943Asp	missense variant	-	NC_000015.10:g.88858414A>T	gnomAD
rs1458260468	p.Thr1946Ile	missense variant	-	NC_000015.10:g.88858422C>T	gnomAD
NCI-TCGA novel	p.Gln1947Lys	missense variant	-	NC_000015.10:g.88858424C>A	NCI-TCGA
rs759627177	p.Ala1948Val	missense variant	-	NC_000015.10:g.88858428C>T	ExAC,TOPMed,gnomAD
rs1295097415	p.Ala1948Thr	missense variant	-	NC_000015.10:g.88858427G>A	gnomAD
rs775613487	p.Pro1949Leu	missense variant	-	NC_000015.10:g.88858431C>T	ExAC
rs1307178205	p.Thr1950Ala	missense variant	-	NC_000015.10:g.88858433A>G	gnomAD
rs763076469	p.Thr1950Arg	missense variant	-	NC_000015.10:g.88858434C>G	ExAC,TOPMed,gnomAD
rs763076469	p.Thr1950Ile	missense variant	-	NC_000015.10:g.88858434C>T	ExAC,TOPMed,gnomAD
COSM3370298	p.Ala1951Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858436G>A	NCI-TCGA Cosmic
rs764337871	p.Ala1951Ser	missense variant	-	NC_000015.10:g.88858436G>T	ExAC,gnomAD
rs1028383965	p.Gln1952Arg	missense variant	-	NC_000015.10:g.88858440A>G	TOPMed,gnomAD
RCV000623584	p.Gln1952Arg	missense variant	Inborn genetic diseases	NC_000015.10:g.88858440A>G	ClinVar
rs1353578704	p.Glu1953Gln	missense variant	-	NC_000015.10:g.88858442G>C	gnomAD
rs181541436	p.Ala1954Ser	missense variant	-	NC_000015.10:g.88858445G>T	1000Genomes,gnomAD
rs181541436	p.Ala1954Thr	missense variant	-	NC_000015.10:g.88858445G>A	1000Genomes,gnomAD
rs1346361409	p.Ala1954Val	missense variant	-	NC_000015.10:g.88858446C>T	TOPMed
rs989523541	p.Gly1955Glu	missense variant	-	NC_000015.10:g.88858449G>A	TOPMed
rs750319773	p.Glu1956Lys	missense variant	-	NC_000015.10:g.88858451G>A	ExAC
rs756133965	p.Gly1957Ala	missense variant	-	NC_000015.10:g.88858455G>C	ExAC,TOPMed,gnomAD
rs913882402	p.Gly1957Arg	missense variant	-	NC_000015.10:g.88858454G>C	TOPMed
rs756133965	p.Gly1957Val	missense variant	-	NC_000015.10:g.88858455G>T	ExAC,TOPMed,gnomAD
COSM702195	p.Gly1960Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858463G>T	NCI-TCGA Cosmic
rs766231705	p.Gly1960Asp	missense variant	-	NC_000015.10:g.88858464G>A	ExAC,gnomAD
rs1423765578	p.Ile1961Thr	missense variant	-	NC_000015.10:g.88858467T>C	TOPMed
rs967023944	p.Glu1963Lys	missense variant	-	NC_000015.10:g.88858472G>A	TOPMed
rs1176827309	p.Gly1966Asp	missense variant	-	NC_000015.10:g.88858482G>A	gnomAD
rs1441681150	p.Gly1966Cys	missense variant	-	NC_000015.10:g.88858481G>T	gnomAD
rs1479852773	p.Ser1969Ala	missense variant	-	NC_000015.10:g.88858490T>G	TOPMed
rs928167507	p.Ala1971Glu	missense variant	-	NC_000015.10:g.88858497C>A	TOPMed,gnomAD
rs982360973	p.Ala1971Thr	missense variant	-	NC_000015.10:g.88858496G>A	TOPMed,gnomAD
rs928167507	p.Ala1971Gly	missense variant	-	NC_000015.10:g.88858497C>G	TOPMed,gnomAD
rs572903055	p.Pro1972Ser	missense variant	-	NC_000015.10:g.88858499C>T	1000Genomes,ExAC,gnomAD
rs1443985437	p.Met1974Ile	missense variant	-	NC_000015.10:g.88858507G>A	gnomAD
rs74477529	p.Met1974Thr	missense variant	-	NC_000015.10:g.88858506T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1307927091	p.Gly1976Arg	missense variant	-	NC_000015.10:g.88858511G>A	TOPMed,gnomAD
rs1382814393	p.Gly1976Glu	missense variant	-	NC_000015.10:g.88858512G>A	gnomAD
rs200212015	p.Glu1977Asp	missense variant	-	NC_000015.10:g.88858516G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1983Glu	missense variant	-	NC_000015.10:g.88858534C>A	NCI-TCGA
rs746211609	p.Ser1985Ile	missense variant	-	NC_000015.10:g.88858539G>T	ExAC,gnomAD
rs1244492523	p.Ser1985Arg	missense variant	-	NC_000015.10:g.88858538A>C	gnomAD
rs746211609	p.Ser1985Asn	missense variant	-	NC_000015.10:g.88858539G>A	ExAC,gnomAD
rs1459287083	p.Gln1988Pro	missense variant	-	NC_000015.10:g.88858548A>C	gnomAD
rs372709777	p.Gly1990Ala	missense variant	-	NC_000015.10:g.88858554G>C	ESP,ExAC,TOPMed,gnomAD
rs775778624	p.Gly1990Arg	missense variant	-	NC_000015.10:g.88858553G>C	ExAC,TOPMed,gnomAD
rs775778624	p.Gly1990Arg	missense variant	-	NC_000015.10:g.88858553G>A	ExAC,TOPMed,gnomAD
COSM6143189	p.Gly1990Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858553G>T	NCI-TCGA Cosmic
rs774599873	p.Glu1993Asp	missense variant	-	NC_000015.10:g.88858564G>C	ExAC,TOPMed,gnomAD
rs774599873	p.Glu1993Asp	missense variant	-	NC_000015.10:g.88858564G>T	ExAC,TOPMed,gnomAD
rs760652757	p.Pro1994Arg	missense variant	-	NC_000015.10:g.88858566C>G	ExAC,gnomAD
rs1171085277	p.Ser1995Asn	missense variant	-	NC_000015.10:g.88858569G>A	gnomAD
NCI-TCGA novel	p.Gly1996Glu	missense variant	-	NC_000015.10:g.88858572G>A	NCI-TCGA
rs377010256	p.Gly1996Arg	missense variant	-	NC_000015.10:g.88858571G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4895290	p.Pro1999Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858580C>T	NCI-TCGA Cosmic
rs34546634	p.Gly2000Arg	missense variant	-	NC_000015.10:g.88858583G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367930275	p.Gly2000Ala	missense variant	-	NC_000015.10:g.88858584G>C	ESP,ExAC,TOPMed,gnomAD
rs34546634	p.Gly2000Ser	missense variant	-	NC_000015.10:g.88858583G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367930275	p.Gly2000Asp	missense variant	-	NC_000015.10:g.88858584G>A	ESP,ExAC,TOPMed,gnomAD
rs755204048	p.Thr2001Ala	missense variant	-	NC_000015.10:g.88858586A>G	ExAC,gnomAD
rs781707379	p.Tyr2003His	missense variant	-	NC_000015.10:g.88858592T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe2004Ile	missense variant	-	NC_000015.10:g.88858595T>A	NCI-TCGA
rs199709827	p.Ser2005Gly	missense variant	-	NC_000015.10:g.88858598A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000423152	p.Asp2007Asn	missense variant	-	NC_000015.10:g.88858604G>A	ClinVar
rs753033186	p.Asp2007Asn	missense variant	-	NC_000015.10:g.88858604G>A	ExAC,TOPMed,gnomAD
rs207475683	p.Ala2009Val	missense variant	-	NC_000015.10:g.88858611C>T	ExAC,gnomAD
rs774757326	p.Thr2011Ile	missense variant	-	NC_000015.10:g.88858617C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr2011Asn	missense variant	-	NC_000015.10:g.88858617C>A	NCI-TCGA
NCI-TCGA novel	p.Thr2012Ile	missense variant	-	NC_000015.10:g.88858620C>T	NCI-TCGA
rs372805764	p.Asn2013Thr	missense variant	-	NC_000015.10:g.88858623A>C	ESP,ExAC,TOPMed,gnomAD
rs372805764	p.Asn2013Ser	missense variant	-	NC_000015.10:g.88858623A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn2013Tyr	missense variant	-	NC_000015.10:g.88858622A>T	NCI-TCGA
rs756575823	p.Val2014Leu	missense variant	-	NC_000015.10:g.88858625G>C	ExAC,TOPMed,gnomAD
rs1216948749	p.Gly2016Ala	missense variant	-	NC_000015.10:g.88858632G>C	TOPMed
NCI-TCGA novel	p.Glu2017Ter	stop gained	-	NC_000015.10:g.88858634G>T	NCI-TCGA
COSM1478449	p.Glu2017Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858634G>A	NCI-TCGA Cosmic
rs375734624	p.Ser2018Tyr	missense variant	-	NC_000015.10:g.88858638C>A	ESP,ExAC,TOPMed,gnomAD
rs375734624	p.Ser2018Cys	missense variant	-	NC_000015.10:g.88858638C>G	ESP,ExAC,TOPMed,gnomAD
rs1169595623	p.Val2020Ile	missense variant	-	NC_000015.10:g.88858643G>A	gnomAD
rs1377382843	p.Ala2021Thr	missense variant	-	NC_000015.10:g.88858646G>A	TOPMed
rs375008777	p.Met2022Thr	missense variant	-	NC_000015.10:g.88858650T>C	ESP,ExAC,TOPMed,gnomAD
rs751259125	p.Thr2024Ile	missense variant	-	NC_000015.10:g.88858656C>T	ExAC,TOPMed,gnomAD
rs763703399	p.Thr2024Ser	missense variant	-	NC_000015.10:g.88858655A>T	ExAC,TOPMed,gnomAD
rs756758122	p.Ser2025Cys	missense variant	-	NC_000015.10:g.88858658A>T	ExAC,gnomAD
rs1367346249	p.Gly2026Glu	missense variant	-	NC_000015.10:g.88858662G>A	TOPMed,gnomAD
rs1455898146	p.Glu2027Lys	missense variant	-	NC_000015.10:g.88858664G>A	TOPMed,gnomAD
rs750884988	p.Ala2028Asp	missense variant	-	NC_000015.10:g.88858668C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala2028Val	missense variant	-	NC_000015.10:g.88858668C>T	NCI-TCGA
rs780573868	p.Ala2028Ser	missense variant	-	NC_000015.10:g.88858667G>T	ExAC,TOPMed,gnomAD
rs780573868	p.Ala2028Pro	missense variant	-	NC_000015.10:g.88858667G>C	ExAC,TOPMed,gnomAD
rs369174647	p.Ser2029Leu	missense variant	-	NC_000015.10:g.88858671C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs982079740	p.Glu2033Lys	missense variant	-	NC_000015.10:g.88858682G>A	TOPMed,gnomAD
rs865848414	p.Thr2035Ser	missense variant	-	NC_000015.10:g.88858688A>T	TOPMed
rs1388840449	p.Leu2036Ter	stop gained	-	NC_000015.10:g.88858692T>G	gnomAD
rs749852017	p.Ile2037Val	missense variant	-	NC_000015.10:g.88858694A>G	TOPMed
rs149083251	p.Thr2038Ile	missense variant	-	NC_000015.10:g.88858698C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000396522	p.Thr2038Ile	missense variant	-	NC_000015.10:g.88858698C>T	ClinVar
rs1244954235	p.Glu2040Asp	missense variant	-	NC_000015.10:g.88858705G>C	TOPMed
rs200423695	p.Val2042Met	missense variant	-	NC_000015.10:g.88858709G>A	ESP,ExAC,TOPMed,gnomAD
rs267604368	p.Glu2043Ter	stop gained	-	NC_000015.10:g.88858712G>T	-
RCV000624149	p.Glu2043Ter	nonsense	Inborn genetic diseases	NC_000015.10:g.88858712G>T	ClinVar
rs201538650	p.Pro2048Ala	missense variant	-	NC_000015.10:g.88858727C>G	ESP,ExAC,TOPMed,gnomAD
rs34074148	p.Pro2048Gln	missense variant	-	NC_000015.10:g.88858728C>A	ExAC,TOPMed,gnomAD
rs369443823	p.Thr2049Pro	missense variant	-	NC_000015.10:g.88858730A>C	ESP,ExAC,TOPMed,gnomAD
rs980418524	p.Ile2050Val	missense variant	-	NC_000015.10:g.88858733A>G	TOPMed,gnomAD
COSM3887736	p.Ser2051Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858737C>T	NCI-TCGA Cosmic
rs1247259711	p.Ser2051Ala	missense variant	-	NC_000015.10:g.88858736T>G	TOPMed
rs547217291	p.Glu2053Lys	missense variant	-	NC_000015.10:g.88858742G>A	1000Genomes,ExAC,gnomAD
rs775445247	p.Leu2054Pro	missense variant	-	NC_000015.10:g.88858746T>C	ExAC,TOPMed,gnomAD
rs1318109289	p.Gly2055Asp	missense variant	-	NC_000015.10:g.88858749G>A	gnomAD
rs762713480	p.Gly2055Ser	missense variant	-	NC_000015.10:g.88858748G>A	ExAC,gnomAD
rs763932519	p.Gln2056Leu	missense variant	-	NC_000015.10:g.88858752A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln2056Ter	stop gained	-	NC_000015.10:g.88858751C>T	NCI-TCGA
rs1298261577	p.Arg2057Ser	missense variant	-	NC_000015.10:g.88858756G>T	TOPMed
rs35061438	p.Pro2058Leu	missense variant	-	NC_000015.10:g.88858758C>T	UniProt,dbSNP
VAR_056154	p.Pro2058Leu	missense variant	-	NC_000015.10:g.88858758C>T	UniProt
rs35061438	p.Pro2058Leu	missense variant	-	NC_000015.10:g.88858758C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs373173874	p.Pro2059Leu	missense variant	-	NC_000015.10:g.88858761C>T	ESP,ExAC,TOPMed,gnomAD
rs767004998	p.Val2060Met	missense variant	-	NC_000015.10:g.88858763G>A	ExAC,gnomAD
rs1240940067	p.Val2060Ala	missense variant	-	NC_000015.10:g.88858764T>C	gnomAD
rs1311425358	p.Thr2061Arg	missense variant	-	NC_000015.10:g.88858767C>G	TOPMed,gnomAD
rs1351463566	p.Thr2063Ile	missense variant	-	NC_000015.10:g.88858773C>T	gnomAD
rs1204433804	p.Pro2064Thr	missense variant	-	NC_000015.10:g.88858775C>A	TOPMed,gnomAD
rs751260854	p.Gln2065AlaPheSerTerUnk	frameshift	-	NC_000015.10:g.88858766_88858767AC>-	NCI-TCGA,NCI-TCGA Cosmic
rs1251265317	p.Leu2066Arg	missense variant	-	NC_000015.10:g.88858782T>G	TOPMed
rs749933055	p.Leu2066Val	missense variant	-	NC_000015.10:g.88858781C>G	ExAC,gnomAD
rs1179034898	p.Phe2067Leu	missense variant	-	NC_000015.10:g.88858786T>G	TOPMed
rs766973962	p.Ser2070Asn	missense variant	-	NC_000015.10:g.88858794G>A	ExAC,gnomAD
rs755694129	p.Ser2070Arg	missense variant	-	NC_000015.10:g.88858793A>C	ExAC,gnomAD
rs766973962	p.Ser2070Ile	missense variant	-	NC_000015.10:g.88858794G>T	ExAC,gnomAD
rs1179934276	p.Gly2071Arg	missense variant	-	NC_000015.10:g.88858796G>A	gnomAD
rs1377902642	p.Gly2071Glu	missense variant	-	NC_000015.10:g.88858797G>A	gnomAD
rs746649096	p.Lys2072Glu	missense variant	-	NC_000015.10:g.88858799A>G	ExAC,TOPMed,gnomAD
rs748318826	p.Val2073Phe	missense variant	-	NC_000015.10:g.88858802G>T	ExAC,gnomAD
rs1321885900	p.Thr2075Lys	missense variant	-	NC_000015.10:g.88858809C>A	gnomAD
rs1321885900	p.Thr2075Ile	missense variant	-	NC_000015.10:g.88858809C>T	gnomAD
rs1207126105	p.Asp2078Val	missense variant	-	NC_000015.10:g.88858818A>T	TOPMed,gnomAD
rs185800102	p.Asp2078Tyr	missense variant	-	NC_000015.10:g.88858817G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1042630	p.Ile2079Leu	missense variant	-	NC_000015.10:g.88858820A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1042630	p.Ile2079Val	missense variant	-	NC_000015.10:g.88858820A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1042630	p.Ile2079Val	missense variant	-	NC_000015.10:g.88858820A>G	UniProt,dbSNP
VAR_080167	p.Ile2079Val	missense variant	-	NC_000015.10:g.88858820A>G	UniProt
rs771090332	p.Gly2081Ala	missense variant	-	NC_000015.10:g.88858827G>C	ExAC,gnomAD
rs1358277450	p.Thr2083Ile	missense variant	-	NC_000015.10:g.88858833C>T	gnomAD
rs775391979	p.Pro2084Leu	missense variant	-	NC_000015.10:g.88858836C>T	ExAC,gnomAD
rs1307078400	p.Pro2087Ala	missense variant	-	NC_000015.10:g.88858844C>G	TOPMed
rs1392683128	p.Gly2088Arg	missense variant	-	NC_000015.10:g.88858847G>A	TOPMed
rs201755419	p.Gly2088Ala	missense variant	-	NC_000015.10:g.88858848G>C	ESP,ExAC,TOPMed,gnomAD
rs1457959304	p.Ser2089Cys	missense variant	-	NC_000015.10:g.88858851C>G	gnomAD
rs1302191484	p.Ser2089Thr	missense variant	-	NC_000015.10:g.88858850T>A	TOPMed
rs1200088081	p.Gly2090Arg	missense variant	-	NC_000015.10:g.88858853G>A	gnomAD
NCI-TCGA novel	p.Gly2090Glu	missense variant	-	NC_000015.10:g.88858854G>A	NCI-TCGA
rs776423623	p.Val2091Leu	missense variant	-	NC_000015.10:g.88858856G>T	ExAC,gnomAD
rs776423623	p.Val2091Ile	missense variant	-	NC_000015.10:g.88858856G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu2092Lys	missense variant	-	NC_000015.10:g.88858859G>A	NCI-TCGA
rs767050244	p.Val2096Phe	missense variant	-	NC_000015.10:g.88858871G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu2098Lys	missense variant	-	NC_000015.10:g.88858877G>A	NCI-TCGA
rs1156630984	p.Glu2102Gln	missense variant	-	NC_000015.10:g.88858889G>C	TOPMed
rs62023520	p.Glu2102Asp	missense variant	-	NC_000015.10:g.88858891G>C	TOPMed,gnomAD
COSM3887738	p.Glu2102Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858889G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr2103Lys	missense variant	-	NC_000015.10:g.88858893C>A	NCI-TCGA
COSM966253	p.Thr2103Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858892A>G	NCI-TCGA Cosmic
rs375589819	p.Thr2103Met	missense variant	-	NC_000015.10:g.88858893C>T	ESP,ExAC,TOPMed,gnomAD
rs1364382521	p.Thr2103Pro	missense variant	-	NC_000015.10:g.88858892A>C	TOPMed
rs755552903	p.Ala2105Thr	missense variant	-	NC_000015.10:g.88858898G>A	ExAC,TOPMed,gnomAD
RCV000210648	p.Ala2105Thr	missense variant	Inborn genetic diseases	NC_000015.10:g.88858898G>A	ClinVar
rs371419855	p.Pro2107Leu	missense variant	-	NC_000015.10:g.88858905C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753031097	p.Ala2109Ser	missense variant	-	NC_000015.10:g.88858910G>T	ExAC,gnomAD
rs1261394262	p.Gly2110Ala	missense variant	-	NC_000015.10:g.88858914G>C	TOPMed
rs1334810359	p.Phe2111Leu	missense variant	-	NC_000015.10:g.88858918C>A	TOPMed,gnomAD
rs758835805	p.Gly2112Arg	missense variant	-	NC_000015.10:g.88858919G>A	ExAC,TOPMed,gnomAD
rs758835805	p.Gly2112Arg	missense variant	-	NC_000015.10:g.88858919G>C	ExAC,TOPMed,gnomAD
COSM3887740	p.Gly2112Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858920G>A	NCI-TCGA Cosmic
rs1445680518	p.Ala2113Val	missense variant	-	NC_000015.10:g.88858923C>T	TOPMed,gnomAD
rs1220093511	p.Ala2116Val	missense variant	-	NC_000015.10:g.88858932C>T	gnomAD
rs747312001	p.Ala2116Thr	missense variant	-	NC_000015.10:g.88858931G>A	ExAC,TOPMed,gnomAD
rs781264311	p.Pro2117Ser	missense variant	-	NC_000015.10:g.88858934C>T	ExAC,gnomAD
rs749177064	p.Glu2118Gly	missense variant	-	NC_000015.10:g.88858938A>G	ExAC,gnomAD
COSM966255	p.Glu2118Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858939G>T	NCI-TCGA Cosmic
rs1315959906	p.Glu2118Lys	missense variant	-	NC_000015.10:g.88858937G>A	TOPMed
NCI-TCGA novel	p.Ala2119Val	missense variant	-	NC_000015.10:g.88858941C>T	NCI-TCGA
NCI-TCGA novel	p.Ala2119Gly	missense variant	-	NC_000015.10:g.88858941C>G	NCI-TCGA
rs1381499420	p.Ala2119Ser	missense variant	-	NC_000015.10:g.88858940G>T	TOPMed
rs1385556253	p.Ala2119Asp	missense variant	-	NC_000015.10:g.88858941C>A	TOPMed
NCI-TCGA novel	p.Ser2120Asn	missense variant	-	NC_000015.10:g.88858944G>A	NCI-TCGA
rs34153007	p.Ser2120Arg	missense variant	-	NC_000015.10:g.88858945C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34153007	p.Ser2120Arg	missense variant	-	NC_000015.10:g.88858945C>G	UniProt,dbSNP
VAR_056155	p.Ser2120Arg	missense variant	-	NC_000015.10:g.88858945C>G	UniProt
rs1468184875	p.Arg2121Gly	missense variant	-	NC_000015.10:g.88858946A>G	TOPMed
NCI-TCGA novel	p.Arg2121Ile	missense variant	-	NC_000015.10:g.88858947G>T	NCI-TCGA
rs774312864	p.Arg2121Lys	missense variant	-	NC_000015.10:g.88858947G>A	ExAC,gnomAD
rs747876368	p.Glu2122Gln	missense variant	-	NC_000015.10:g.88858949G>C	ExAC,TOPMed,gnomAD
rs1257260023	p.Asp2123His	missense variant	-	NC_000015.10:g.88858952G>C	gnomAD
rs1177248665	p.Ser2124Ala	missense variant	-	NC_000015.10:g.88858955T>G	TOPMed
NCI-TCGA novel	p.Ser2124Phe	missense variant	-	NC_000015.10:g.88858956C>T	NCI-TCGA
rs1027872262	p.Gly2125Glu	missense variant	-	NC_000015.10:g.88858959G>A	TOPMed
rs772738227	p.Ser2126Pro	missense variant	-	NC_000015.10:g.88858961T>C	ExAC,TOPMed,gnomAD
COSM3887742	p.Ser2126Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88858962C>T	NCI-TCGA Cosmic
rs760376412	p.Leu2129Val	missense variant	-	NC_000015.10:g.88858970C>G	ExAC,gnomAD
rs983617222	p.Ser2130Asn	missense variant	-	NC_000015.10:g.88858974G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu2131Lys	missense variant	-	NC_000015.10:g.88858976G>A	NCI-TCGA
rs765927279	p.Thr2132Ser	missense variant	-	NC_000015.10:g.88858980C>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr2132Pro	missense variant	-	NC_000015.10:g.88858979A>C	NCI-TCGA
rs1412702284	p.Ala2135Ser	missense variant	-	NC_000015.10:g.88858988G>T	gnomAD
NCI-TCGA novel	p.Ala2135Glu	missense variant	-	NC_000015.10:g.88858989C>A	NCI-TCGA
NCI-TCGA novel	p.His2137Tyr	missense variant	-	NC_000015.10:g.88858994C>T	NCI-TCGA
rs371628768	p.Glu2138Lys	missense variant	-	NC_000015.10:g.88858997G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372625220	p.Asn2140Lys	missense variant	-	NC_000015.10:g.88859005C>A	ExAC,TOPMed,gnomAD
rs1233455548	p.Leu2141Ile	missense variant	-	NC_000015.10:g.88859006C>A	gnomAD
rs1233455548	p.Leu2141Phe	missense variant	-	NC_000015.10:g.88859006C>T	gnomAD
rs556062259	p.Glu2142Lys	missense variant	-	NC_000015.10:g.88859009G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1226384388	p.Ser2144Cys	missense variant	-	NC_000015.10:g.88859016C>G	TOPMed
COSM3887744	p.Ser2144Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88859016C>T	NCI-TCGA Cosmic
rs757495567	p.Ser2145Phe	missense variant	-	NC_000015.10:g.88859019C>T	ExAC,gnomAD
rs1488852230	p.Gly2146Val	missense variant	-	NC_000015.10:g.88859022G>T	gnomAD
rs1196263168	p.Leu2147Arg	missense variant	-	NC_000015.10:g.88859025T>G	gnomAD
rs922268298	p.Gly2148Glu	missense variant	-	NC_000015.10:g.88859028G>A	TOPMed,gnomAD
rs143156437	p.Gly2151Ser	missense variant	-	NC_000015.10:g.88859036G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1394563067	p.Ser2152Asn	missense variant	-	NC_000015.10:g.88859040G>A	TOPMed
rs1471024295	p.Ser2152Cys	missense variant	-	NC_000015.10:g.88859039A>T	TOPMed
rs1167515845	p.Ser2152Arg	missense variant	-	NC_000015.10:g.88859041C>A	TOPMed
rs542651723	p.Leu2154Ser	missense variant	-	NC_000015.10:g.88859046T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1375084314	p.Thr2155Lys	missense variant	-	NC_000015.10:g.88859049C>A	TOPMed
rs777634655	p.Glu2158Lys	missense variant	-	NC_000015.10:g.88859057G>A	ExAC,gnomAD
rs746590966	p.Glu2158Asp	missense variant	-	NC_000015.10:g.88859059A>C	ExAC,gnomAD
COSM3816998	p.Glu2158Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88859057G>C	NCI-TCGA Cosmic
rs770733422	p.Gly2159Ser	missense variant	-	NC_000015.10:g.88859060G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu2160Gln	missense variant	-	NC_000015.10:g.88859063G>C	NCI-TCGA
rs373460432	p.Glu2160Lys	missense variant	-	NC_000015.10:g.88859063G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764318576	p.Ala2161Val	missense variant	-	NC_000015.10:g.88859067C>T	ExAC,TOPMed,gnomAD
rs573314060	p.Ala2163Gly	missense variant	-	NC_000015.10:g.88859073C>G	1000Genomes,ExAC,gnomAD
rs766547434	p.Ala2163Thr	missense variant	-	NC_000015.10:g.88859072G>A	ExAC,TOPMed,gnomAD
rs368693410	p.Ala2164Val	missense variant	-	NC_000015.10:g.88859076C>T	ESP,ExAC,TOPMed,gnomAD
rs540453723	p.Pro2165Leu	missense variant	-	NC_000015.10:g.88859079C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1414689813	p.Val2167Ala	missense variant	-	NC_000015.10:g.88859085T>C	gnomAD
rs752522191	p.Ser2168Asn	missense variant	-	NC_000015.10:g.88859088G>A	ExAC,TOPMed,gnomAD
rs116530539	p.Gly2169Glu	missense variant	-	NC_000015.10:g.88859091G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777387397	p.Glu2170Gln	missense variant	-	NC_000015.10:g.88859093G>C	ExAC,TOPMed,gnomAD
rs777387397	p.Glu2170Gln	missense variant	-	NC_000015.10:g.88859093G>C	NCI-TCGA
rs770898523	p.Glu2170Gly	missense variant	-	NC_000015.10:g.88859094A>G	ExAC,gnomAD
rs777387397	p.Glu2170Lys	missense variant	-	NC_000015.10:g.88859093G>A	ExAC,TOPMed,gnomAD
rs1334007352	p.Thr2173Asn	missense variant	-	NC_000015.10:g.88859103C>A	TOPMed
rs1328287495	p.Asp2176Tyr	missense variant	-	NC_000015.10:g.88859111G>T	TOPMed
rs1357274164	p.Asp2176Val	missense variant	-	NC_000015.10:g.88859112A>T	gnomAD
rs745580775	p.Val2177Met	missense variant	-	NC_000015.10:g.88859114G>A	ExAC,TOPMed
rs188663484	p.Val2177Ala	missense variant	-	NC_000015.10:g.88859115T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs376406609	p.Thr2179Ile	missense variant	-	NC_000015.10:g.88859121C>T	ESP,ExAC,TOPMed,gnomAD
rs1424484084	p.Glu2180Gln	missense variant	-	NC_000015.10:g.88859123G>C	TOPMed
rs551246840	p.Pro2182Arg	missense variant	-	NC_000015.10:g.88859130C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs774770888	p.Pro2182Thr	missense variant	-	NC_000015.10:g.88859129C>A	ExAC,gnomAD
rs551246840	p.Pro2182Leu	missense variant	-	NC_000015.10:g.88859130C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1242959286	p.Ser2186Pro	missense variant	-	NC_000015.10:g.88859141T>C	gnomAD
rs1305488924	p.Ala2187Pro	missense variant	-	NC_000015.10:g.88859144G>C	gnomAD
NCI-TCGA novel	p.Pro2189Leu	missense variant	-	NC_000015.10:g.88859151C>T	NCI-TCGA
rs773358643	p.Thr2190Met	missense variant	-	NC_000015.10:g.88859154C>T	ExAC,TOPMed,gnomAD
rs377558109	p.Ala2191Ser	missense variant	-	NC_000015.10:g.88859156G>T	ESP,ExAC,TOPMed,gnomAD
rs1023093737	p.Gly2193Arg	missense variant	-	NC_000015.10:g.88859162G>A	gnomAD
rs1238866748	p.Asp2194Asn	missense variant	-	NC_000015.10:g.88859165G>A	gnomAD
rs755048682	p.Arg2195Gly	missense variant	-	NC_000015.10:g.88859168A>G	ExAC,TOPMed,gnomAD
rs1249700502	p.Thr2196Asn	missense variant	-	NC_000015.10:g.88859172C>A	gnomAD
rs751604379	p.Glu2197Lys	missense variant	-	NC_000015.10:g.88859174G>A	ExAC,TOPMed,gnomAD
rs751604379	p.Glu2197Lys	missense variant	-	NC_000015.10:g.88859174G>A	NCI-TCGA
rs548216816	p.Gly2200Arg	missense variant	-	NC_000015.10:g.88859183G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745458647	p.Asp2201His	missense variant	-	NC_000015.10:g.88859186G>C	ExAC
COSM4818012	p.Ser2203Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88859193C>G	NCI-TCGA Cosmic
rs1401931505	p.Ser2203Phe	missense variant	-	NC_000015.10:g.88859193C>T	gnomAD
rs1373291263	p.Ser2207Leu	missense variant	-	NC_000015.10:g.88859205C>T	gnomAD
rs1373291263	p.Ser2207Leu	missense variant	-	NC_000015.10:g.88859205C>T	NCI-TCGA Cosmic
rs533925391	p.Val2211Ile	missense variant	-	NC_000015.10:g.88859216G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs533925391	p.Val2211Ile	missense variant	-	NC_000015.10:g.88859216G>A	NCI-TCGA,NCI-TCGA Cosmic
rs773591919	p.Ser2214Gly	missense variant	-	NC_000015.10:g.88859225A>G	ExAC,TOPMed,gnomAD
rs961148092	p.Thr2215Ser	missense variant	-	NC_000015.10:g.88859229C>G	TOPMed,gnomAD
rs760843861	p.Ser2216Gly	missense variant	-	NC_000015.10:g.88859231A>G	ExAC,TOPMed,gnomAD
rs367726004	p.Ile2217Phe	missense variant	-	NC_000015.10:g.88859234A>T	ESP,ExAC,TOPMed,gnomAD
RCV000598399	p.Ile2217Phe	missense variant	-	NC_000015.10:g.88859234A>T	ClinVar
rs371239048	p.Glu2219Gln	missense variant	-	NC_000015.10:g.88859240G>C	ESP,ExAC,TOPMed,gnomAD
rs759647045	p.Glu2219Asp	missense variant	-	NC_000015.10:g.88859242G>C	ExAC,gnomAD
COSM1301541	p.Glu2219Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88859240G>A	NCI-TCGA Cosmic
rs1194006548	p.Gln2224His	missense variant	-	NC_000015.10:g.88859257G>C	gnomAD
rs765299489	p.Gln2224Lys	missense variant	-	NC_000015.10:g.88859255C>A	ExAC,gnomAD
rs765299489	p.Gln2224Lys	missense variant	-	NC_000015.10:g.88859255C>A	NCI-TCGA
rs1425299042	p.Gln2225Glu	missense variant	-	NC_000015.10:g.88859258C>G	TOPMed,gnomAD
COSM966259	p.Thr2226Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88859261A>G	NCI-TCGA Cosmic
rs751475234	p.Arg2228Cys	missense variant	-	NC_000015.10:g.88859267C>T	ExAC,TOPMed,gnomAD
rs751475234	p.Arg2228Gly	missense variant	-	NC_000015.10:g.88859267C>G	ExAC,TOPMed,gnomAD
rs374891622	p.Arg2228His	missense variant	-	NC_000015.10:g.88859268G>A	ESP,ExAC,TOPMed,gnomAD
rs767382429	p.Pro2229Thr	missense variant	-	NC_000015.10:g.88859270C>A	ExAC,gnomAD
rs767636869	p.Ala2230Gly	missense variant	-	NC_000015.10:g.88859274C>G	ExAC,TOPMed
rs201436752	p.Ala2230Ser	missense variant	-	NC_000015.10:g.88859273G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu2231Asp	missense variant	-	NC_000015.10:g.88859278G>T	NCI-TCGA
rs181029183	p.Thr2232Met	missense variant	-	NC_000015.10:g.88859280C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000294281	p.Thr2232Met	missense variant	-	NC_000015.10:g.88859280C>T	ClinVar
NCI-TCGA novel	p.Thr2232Ala	missense variant	-	NC_000015.10:g.88859279A>G	NCI-TCGA
NCI-TCGA novel	p.Leu2234Pro	missense variant	-	NC_000015.10:g.88859286T>C	NCI-TCGA
rs1279121848	p.Glu2237Gly	missense variant	-	NC_000015.10:g.88859295A>G	gnomAD
rs372580346	p.Ser2239Leu	missense variant	-	NC_000015.10:g.88859301C>T	ESP,ExAC,TOPMed,gnomAD
rs1364392889	p.Ser2239Pro	missense variant	-	NC_000015.10:g.88859300T>C	gnomAD
rs1278085269	p.Leu2242Pro	missense variant	-	NC_000015.10:g.88859310T>C	gnomAD
rs1223077467	p.Tyr2243Cys	missense variant	-	NC_000015.10:g.88859313A>G	TOPMed
rs368163315	p.Tyr2243His	missense variant	-	NC_000015.10:g.88859312T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly2245Glu	missense variant	-	NC_000015.10:g.88859319G>A	NCI-TCGA
rs771255342	p.Glu2246Lys	missense variant	-	NC_000015.10:g.88859321G>A	ExAC,gnomAD
rs776906125	p.Glu2247Lys	missense variant	-	NC_000015.10:g.88859324G>A	ExAC,gnomAD
rs574437652	p.Thr2248Ile	missense variant	-	NC_000015.10:g.88859328C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1425338898	p.His2249Gln	missense variant	-	NC_000015.10:g.88859332C>G	gnomAD
rs769936963	p.Thr2250Ala	missense variant	-	NC_000015.10:g.88859333A>G	ExAC,gnomAD
rs769936963	p.Thr2250Pro	missense variant	-	NC_000015.10:g.88859333A>C	ExAC,gnomAD
rs763166741	p.Glu2252Ala	missense variant	-	NC_000015.10:g.88859340A>C	ExAC,gnomAD
rs939133572	p.Glu2252Lys	missense variant	-	NC_000015.10:g.88859339G>A	TOPMed,gnomAD
rs1299220944	p.Thr2253Lys	missense variant	-	NC_000015.10:g.88859343C>A	gnomAD
rs1428898443	p.Ala2254Thr	missense variant	-	NC_000015.10:g.88859345G>A	gnomAD
rs372788256	p.Thr2255Ser	missense variant	-	NC_000015.10:g.88859349C>G	ESP,ExAC,TOPMed,gnomAD
RCV000597269	p.Thr2255Ser	missense variant	-	NC_000015.10:g.88859349C>G	ClinVar
rs1301210241	p.Ser2256Phe	missense variant	-	NC_000015.10:g.88859352C>T	gnomAD
rs145203473	p.Pro2257Arg	missense variant	-	NC_000015.10:g.88859355C>G	1000Genomes,ExAC,gnomAD
rs754614021	p.Thr2258Lys	missense variant	-	NC_000015.10:g.88859358C>A	ExAC,gnomAD
rs1229527241	p.Thr2258Ala	missense variant	-	NC_000015.10:g.88859357A>G	TOPMed,gnomAD
rs1214701977	p.Ser2261Pro	missense variant	-	NC_000015.10:g.88859366T>C	gnomAD
rs1489196248	p.Ile2262Asn	missense variant	-	NC_000015.10:g.88859370T>A	TOPMed,gnomAD
rs747535301	p.Pro2263Gln	missense variant	-	NC_000015.10:g.88859373C>A	ExAC,gnomAD
rs1049047108	p.Ala2264Gly	missense variant	-	NC_000015.10:g.88859376C>G	TOPMed,gnomAD
rs947514583	p.Ala2264Thr	missense variant	-	NC_000015.10:g.88859375G>A	TOPMed,gnomAD
rs947514583	p.Ala2264Ser	missense variant	-	NC_000015.10:g.88859375G>T	TOPMed,gnomAD
rs771258166	p.Pro2266Leu	missense variant	-	NC_000015.10:g.88859382C>T	ExAC,TOPMed,gnomAD
rs771258166	p.Pro2266Leu	missense variant	-	NC_000015.10:g.88859382C>T	NCI-TCGA
rs1350656389	p.Trp2268Cys	missense variant	-	NC_000015.10:g.88859389G>C	gnomAD
rs1317963217	p.Trp2268Ter	stop gained	-	NC_000015.10:g.88859388G>A	gnomAD
rs1005129901	p.Trp2268Gly	missense variant	-	NC_000015.10:g.88859387T>G	TOPMed,gnomAD
rs1002981169	p.Arg2270His	missense variant	-	NC_000015.10:g.88859394G>A	TOPMed,gnomAD
rs536333497	p.Arg2270Cys	missense variant	-	NC_000015.10:g.88859393C>T	ExAC,TOPMed,gnomAD
rs369258827	p.Glu2271Lys	missense variant	-	NC_000015.10:g.88859396G>A	ESP,ExAC,TOPMed,gnomAD
rs1361652325	p.Ala2276Pro	missense variant	-	NC_000015.10:g.88859411G>C	TOPMed
rs1361652325	p.Ala2276Thr	missense variant	-	NC_000015.10:g.88859411G>A	TOPMed
rs749098394	p.Ala2278Gly	missense variant	-	NC_000015.10:g.88860326C>G	ExAC,TOPMed,gnomAD
rs749098394	p.Ala2278Val	missense variant	-	NC_000015.10:g.88860326C>T	ExAC,TOPMed,gnomAD
rs749098394	p.Ala2278Asp	missense variant	-	NC_000015.10:g.88860326C>A	ExAC,TOPMed,gnomAD
rs531336434	p.Ala2280Thr	missense variant	-	NC_000015.10:g.88860331G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs531336434	p.Ala2280Ser	missense variant	-	NC_000015.10:g.88860331G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1258738952	p.Arg2281Ser	missense variant	-	NC_000015.10:g.88860336G>T	TOPMed,gnomAD
rs777268408	p.Arg2281Thr	missense variant	-	NC_000015.10:g.88860335G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg2281Gly	missense variant	-	NC_000015.10:g.88860334A>G	NCI-TCGA
rs752044557	p.Ser2282Phe	missense variant	-	NC_000015.10:g.88860338C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu2286Lys	missense variant	-	NC_000015.10:g.88860349G>A	NCI-TCGA
rs1186135352	p.Pro2287Thr	missense variant	-	NC_000015.10:g.88860352C>A	gnomAD
rs781579675	p.Gly2289Glu	missense variant	-	NC_000015.10:g.88860359G>A	ExAC,gnomAD
rs757726420	p.Gly2289Arg	missense variant	-	NC_000015.10:g.88860358G>A	ExAC,gnomAD
rs781579675	p.Gly2289Val	missense variant	-	NC_000015.10:g.88860359G>T	ExAC,gnomAD
COSM3420696	p.Ala2290Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88860362C>T	NCI-TCGA Cosmic
rs746196673	p.Gly2291Glu	missense variant	-	NC_000015.10:g.88860365G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly2291Val	missense variant	-	NC_000015.10:g.88860365G>T	NCI-TCGA
rs1169742258	p.Gly2291Arg	missense variant	-	NC_000015.10:g.88860364G>A	TOPMed,gnomAD
rs370618858	p.Lys2294Thr	missense variant	-	NC_000015.10:g.88860374A>C	ESP,ExAC,TOPMed,gnomAD
rs1334745093	p.Glu2295Ter	stop gained	-	NC_000015.10:g.88860376G>T	gnomAD
rs531788785	p.Thr2296Ile	missense variant	-	NC_000015.10:g.88860380C>T	gnomAD
rs1292339739	p.Gly2298Arg	missense variant	-	NC_000015.10:g.88860385G>A	gnomAD
COSM6143187	p.Gly2298Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.88860385G>T	NCI-TCGA Cosmic
rs768801235	p.His2299Arg	missense variant	-	NC_000015.10:g.88860389A>G	ExAC,gnomAD
rs373674144	p.Val2300Ile	missense variant	-	NC_000015.10:g.88860391G>A	ESP,ExAC,TOPMed,gnomAD
rs1014276564	p.Cys2302Tyr	missense variant	-	NC_000015.10:g.88860398G>A	gnomAD
NCI-TCGA novel	p.Leu2303Gln	missense variant	-	NC_000015.10:g.88860401T>A	NCI-TCGA
rs1489993778	p.Cys2304Ter	stop gained	-	NC_000015.10:g.88860405C>A	TOPMed
rs1209211363	p.Pro2305Leu	missense variant	-	NC_000015.10:g.88860407C>T	gnomAD
rs1429348431	p.Pro2306Thr	missense variant	-	NC_000015.10:g.88860409C>A	TOPMed,gnomAD
rs1429348431	p.Pro2306Ala	missense variant	-	NC_000015.10:g.88860409C>G	TOPMed,gnomAD
rs777726601	p.Pro2306LeuPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.88860405C>-	NCI-TCGA,NCI-TCGA Cosmic
rs765080728	p.Glu2311Lys	missense variant	-	NC_000015.10:g.88860424G>A	ExAC,TOPMed,gnomAD
rs775056039	p.Glu2311Asp	missense variant	-	NC_000015.10:g.88860426G>T	ExAC,TOPMed,gnomAD
rs370515602	p.His2312Gln	missense variant	-	NC_000015.10:g.88860429C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn2314His	missense variant	-	NC_000015.10:g.88860433A>C	NCI-TCGA
rs763610801	p.Asn2314Asp	missense variant	-	NC_000015.10:g.88860433A>G	ExAC,gnomAD
rs1288718134	p.Ile2315Arg	missense variant	-	NC_000015.10:g.88860437T>G	TOPMed
rs1288718134	p.Ile2315Lys	missense variant	-	NC_000015.10:g.88860437T>A	TOPMed
rs374577791	p.Ile2315Val	missense variant	-	NC_000015.10:g.88860436A>G	ESP,gnomAD
rs1292831388	p.Asp2316His	missense variant	-	NC_000015.10:g.88860439G>C	TOPMed
NCI-TCGA novel	p.Asp2316Asn	missense variant	-	NC_000015.10:g.88860439G>A	NCI-TCGA
rs1169003266	p.Gln2317Glu	missense variant	-	NC_000015.10:g.88871384C>G	gnomAD
rs748466186	p.Gln2317Arg	missense variant	-	NC_000015.10:g.88871385A>G	ExAC,gnomAD
rs1279151834	p.Glu2318Gly	missense variant	-	NC_000015.10:g.88871388A>G	gnomAD
rs758341169	p.Glu2318Lys	missense variant	-	NC_000015.10:g.88871387G>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu2318Val	missense variant	-	NC_000015.10:g.88871388A>T	NCI-TCGA
rs1315193711	p.Val2319Leu	missense variant	-	NC_000015.10:g.88871390G>T	gnomAD
NCI-TCGA novel	p.Val2319Gly	missense variant	-	NC_000015.10:g.88871391T>G	NCI-TCGA
NCI-TCGA novel	p.Val2319Ile	missense variant	-	NC_000015.10:g.88871390G>A	NCI-TCGA
COSM6078091	p.Glu2321Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88871396G>A	NCI-TCGA Cosmic
rs534424968	p.Glu2322Asp	missense variant	-	NC_000015.10:g.88871401G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1392424747	p.Gly2323Ser	missense variant	-	NC_000015.10:g.88871402G>A	TOPMed
rs745755155	p.Lys2326Glu	missense variant	-	NC_000015.10:g.88871411A>G	ExAC,TOPMed,gnomAD
rs780006455	p.Gly2329Asp	missense variant	-	NC_000015.10:g.88871421G>A	ExAC,gnomAD
rs1555457492	p.Tyr2332His	missense variant	-	NC_000015.10:g.88871429T>C	-
RCV000498568	p.Tyr2332His	missense variant	-	NC_000015.10:g.88871429T>C	ClinVar
rs773809580	p.Arg2333His	missense variant	-	NC_000015.10:g.88871433G>A	ExAC,TOPMed,gnomAD
rs768563192	p.Arg2333Cys	missense variant	-	NC_000015.10:g.88871432C>T	ExAC,gnomAD
rs1236331146	p.His2334Arg	missense variant	-	NC_000015.10:g.88871436A>G	gnomAD
rs761543122	p.Pro2336Leu	missense variant	-	NC_000015.10:g.88871442C>T	ExAC,gnomAD
rs772883781	p.Asp2337Asn	missense variant	-	NC_000015.10:g.88871444G>A	ExAC,TOPMed,gnomAD
rs772883781	p.Asp2337His	missense variant	-	NC_000015.10:g.88871444G>C	ExAC,TOPMed,gnomAD
rs1013531754	p.Arg2338Cys	missense variant	-	NC_000015.10:g.88871447C>T	TOPMed
rs760305263	p.Arg2338His	missense variant	-	NC_000015.10:g.88871448G>A	ExAC,TOPMed,gnomAD
rs1013531754	p.Arg2338Ser	missense variant	-	NC_000015.10:g.88871447C>A	TOPMed
rs760305263	p.Arg2338Leu	missense variant	-	NC_000015.10:g.88871448G>T	ExAC,TOPMed,gnomAD
rs1204709768	p.Glu2339Lys	missense variant	-	NC_000015.10:g.88871450G>A	TOPMed
rs754450944	p.Glu2339Asp	missense variant	-	NC_000015.10:g.88871452G>T	ExAC,TOPMed,gnomAD
rs1185453565	p.Glu2339Ala	missense variant	-	NC_000015.10:g.88871451A>C	TOPMed,gnomAD
rs369624139	p.Thr2340Ala	missense variant	-	NC_000015.10:g.88871453A>G	ESP,TOPMed,gnomAD
rs369624139	p.Thr2340Ser	missense variant	-	NC_000015.10:g.88871453A>T	ESP,TOPMed,gnomAD
rs759812417	p.Val2342Met	missense variant	-	NC_000015.10:g.88871459G>A	ExAC,gnomAD
rs985414009	p.Glu2345Lys	missense variant	-	NC_000015.10:g.88871468G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu2345Gln	missense variant	-	NC_000015.10:g.88871468G>C	NCI-TCGA
rs765636005	p.Glu2345Asp	missense variant	-	NC_000015.10:g.88871470G>T	ExAC,gnomAD
rs199999713	p.Arg2346His	missense variant	-	NC_000015.10:g.88871472G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747182944	p.Arg2347Leu	missense variant	-	NC_000015.10:g.88871475G>T	ExAC,TOPMed,gnomAD
rs1428837585	p.Arg2347Trp	missense variant	-	NC_000015.10:g.88871474C>T	gnomAD
rs747182944	p.Arg2347Gln	missense variant	-	NC_000015.10:g.88871475G>A	ExAC,TOPMed,gnomAD
rs777789052	p.Cys2348Tyr	missense variant	-	NC_000015.10:g.88871478G>A	ExAC,TOPMed,gnomAD
rs376535037	p.Arg2349Trp	missense variant	-	NC_000015.10:g.88871480C>T	ESP,ExAC,TOPMed,gnomAD
rs200921049	p.Arg2349Gln	missense variant	-	NC_000015.10:g.88871481G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778792706	p.His2354Arg	missense variant	-	NC_000015.10:g.88871496A>G	ExAC,gnomAD
rs574395127	p.His2354Tyr	missense variant	-	NC_000015.10:g.88871495C>T	1000Genomes,ExAC,gnomAD
rs1555457513	p.Leu2355Pro	missense variant	-	NC_000015.10:g.88871499T>C	-
RCV000508984	p.Leu2355Pro	missense variant	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88871499T>C	ClinVar
rs150555123	p.Val2359Leu	missense variant	-	NC_000015.10:g.88871510G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150555123	p.Val2359Ile	missense variant	-	NC_000015.10:g.88871510G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000514525	p.Val2359Ile	missense variant	-	NC_000015.10:g.88871510G>A	ClinVar
rs1026663279	p.Thr2360Ala	missense variant	-	NC_000015.10:g.88871513A>G	TOPMed
rs770628724	p.Pro2361Leu	missense variant	-	NC_000015.10:g.88871517C>T	ExAC,gnomAD
rs770628724	p.Pro2361Arg	missense variant	-	NC_000015.10:g.88871517C>G	ExAC,gnomAD
rs765467543	p.Glu2362Lys	missense variant	-	NC_000015.10:g.88871519G>A	ExAC,TOPMed,gnomAD
rs753135658	p.Glu2363Lys	missense variant	-	NC_000015.10:g.88871522G>A	ExAC,gnomAD
rs1555457525	p.Gln2364Ter	stop gained	-	NC_000015.10:g.88871525C>T	-
RCV000508988	p.Gln2364Ter	nonsense	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88871525C>T	ClinVar
NCI-TCGA novel	p.Gln2364His	missense variant	-	NC_000015.10:g.88871527G>T	NCI-TCGA
NCI-TCGA novel	p.Glu2365Val	missense variant	-	NC_000015.10:g.88871529A>T	NCI-TCGA
rs762045879	p.Ala2371Val	missense variant	-	NC_000015.10:g.88872009C>T	ExAC,TOPMed,gnomAD
rs762045879	p.Ala2371Gly	missense variant	-	NC_000015.10:g.88872009C>G	ExAC,TOPMed,gnomAD
rs767547523	p.Asp2373Val	missense variant	-	NC_000015.10:g.88872015A>T	ExAC,gnomAD
rs3817428	p.Asp2373Glu	missense variant	-	NC_000015.10:g.88872016C>G	UniProt,dbSNP
VAR_080168	p.Asp2373Glu	missense variant	-	NC_000015.10:g.88872016C>G	UniProt
rs3817428	p.Asp2373Glu	missense variant	-	NC_000015.10:g.88872016C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp2373Asn	missense variant	-	NC_000015.10:g.88872014G>A	NCI-TCGA
rs1185685829	p.Gln2375Arg	missense variant	-	NC_000015.10:g.88872021A>G	gnomAD
NCI-TCGA novel	p.Gln2375Lys	missense variant	-	NC_000015.10:g.88872020C>A	NCI-TCGA
rs867476949	p.Trp2376Ter	stop gained	-	NC_000015.10:g.88872024G>A	gnomAD
NCI-TCGA novel	p.Gly2378Cys	missense variant	-	NC_000015.10:g.88872029G>T	NCI-TCGA
rs752648715	p.Gly2378Ser	missense variant	-	NC_000015.10:g.88872029G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp2381His	missense variant	-	NC_000015.10:g.88872038G>C	NCI-TCGA
rs121913568	p.Asp2381Asn	missense variant	Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG)	NC_000015.10:g.88872038G>A	UniProt,dbSNP
VAR_063053	p.Asp2381Asn	missense variant	Spondyloepimetaphyseal dysplasia, aggrecan type (SEMDAG)	NC_000015.10:g.88872038G>A	UniProt
rs121913568	p.Asp2381Asn	missense variant	-	NC_000015.10:g.88872038G>A	-
RCV000015375	p.Asp2381Asn	missense variant	Spondyloepimetaphyseal dysplasia, Aggrecan type (SEMDAG)	NC_000015.10:g.88872038G>A	ClinVar
rs1192450564	p.Arg2382Lys	missense variant	-	NC_000015.10:g.88872042G>A	TOPMed
rs1477219599	p.Glu2385Lys	missense variant	-	NC_000015.10:g.88872050G>A	TOPMed,gnomAD
rs780745834	p.Glu2385Asp	missense variant	-	NC_000015.10:g.88872052A>C	ExAC,TOPMed,gnomAD
rs780745834	p.Glu2385Asp	missense variant	-	NC_000015.10:g.88872052A>T	ExAC,TOPMed,gnomAD
rs374842225	p.Gly2386Ala	missense variant	-	NC_000015.10:g.88872054G>C	ESP,ExAC,TOPMed,gnomAD
rs374842225	p.Gly2386Glu	missense variant	-	NC_000015.10:g.88872054G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp2387Glu	missense variant	-	NC_000015.10:g.88872058C>A	NCI-TCGA
rs368833137	p.Arg2389His	missense variant	-	NC_000015.10:g.88872063G>A	ExAC,TOPMed,gnomAD
rs1326557887	p.Arg2389Cys	missense variant	-	NC_000015.10:g.88872062C>T	gnomAD
rs1391260911	p.Asp2392Asn	missense variant	-	NC_000015.10:g.88872071G>A	gnomAD
COSM1375292	p.Asp2392Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88872071G>T	NCI-TCGA Cosmic
COSM4824084	p.Asp2392His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88872071G>C	NCI-TCGA Cosmic
rs1267846734	p.His2394Tyr	missense variant	-	NC_000015.10:g.88872077C>T	TOPMed,gnomAD
rs1340673597	p.His2394Arg	missense variant	-	NC_000015.10:g.88872078A>G	gnomAD
rs1267846734	p.His2394Asn	missense variant	-	NC_000015.10:g.88872077C>A	TOPMed,gnomAD
rs749774270	p.His2394Gln	missense variant	-	NC_000015.10:g.88872079C>A	ExAC,gnomAD
rs774731139	p.Pro2395Arg	missense variant	-	NC_000015.10:g.88872081C>G	ExAC,gnomAD
rs571846898	p.Pro2395Ser	missense variant	-	NC_000015.10:g.88872080C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs571846898	p.Pro2395Ala	missense variant	-	NC_000015.10:g.88872080C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs571846898	p.Pro2395Thr	missense variant	-	NC_000015.10:g.88872080C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs762207698	p.Met2396Thr	missense variant	-	NC_000015.10:g.88872084T>C	ExAC,gnomAD
rs1198995852	p.Met2396Val	missense variant	-	NC_000015.10:g.88872083A>G	gnomAD
rs759731578	p.Gln2397Pro	missense variant	-	NC_000015.10:g.88872882A>C	ExAC,gnomAD
rs764102913	p.Glu2399Lys	missense variant	-	NC_000015.10:g.88872887G>A	ExAC,TOPMed,gnomAD
COSM4844863	p.Glu2399Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88872887G>C	NCI-TCGA Cosmic
rs1328635807	p.Asn2400His	missense variant	-	NC_000015.10:g.88872890A>C	gnomAD
rs1555457632	p.Trp2401Ter	stop gained	-	NC_000015.10:g.88872895G>A	-
RCV000508983	p.Trp2401Ter	nonsense	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88872895G>A	ClinVar
rs535702010	p.Arg2402His	missense variant	-	NC_000015.10:g.88872897G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751606366	p.Arg2402Cys	missense variant	-	NC_000015.10:g.88872896C>T	ExAC,TOPMed,gnomAD
rs767230096	p.Pro2403Arg	missense variant	-	NC_000015.10:g.88872900C>G	ExAC,gnomAD
rs758352547	p.Gln2405Lys	missense variant	-	NC_000015.10:g.88872905C>A	TOPMed,gnomAD
rs1435997573	p.Asn2408Lys	missense variant	-	NC_000015.10:g.88872916C>G	TOPMed
rs1420631612	p.Phe2409Ile	missense variant	-	NC_000015.10:g.88872917T>A	gnomAD
rs1420631612	p.Phe2409Val	missense variant	-	NC_000015.10:g.88872917T>G	gnomAD
NCI-TCGA novel	p.Phe2410LeuPheSerTerUnk	frameshift	-	NC_000015.10:g.88872917T>-	NCI-TCGA
rs1331939754	p.Phe2410Ser	missense variant	-	NC_000015.10:g.88872921T>C	TOPMed
rs1179618998	p.Ala2411Asp	missense variant	-	NC_000015.10:g.88872924C>A	gnomAD
rs192568553	p.Ala2412Ser	missense variant	-	NC_000015.10:g.88872926G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs192568553	p.Ala2412Thr	missense variant	-	NC_000015.10:g.88872926G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1159706563	p.Gly2413Ala	missense variant	-	NC_000015.10:g.88872930G>C	TOPMed
rs879255506	p.Asp2415Val	missense variant	-	NC_000015.10:g.88872936A>T	-
RCV000239390	p.Asp2415Val	missense variant	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88872936A>T	ClinVar
rs267606625	p.Val2417Met	missense variant	-	NC_000015.10:g.88872941G>A	-
RCV000015376	p.Val2417Met	missense variant	Osteochondritis dissecans (SSOAOD)	NC_000015.10:g.88872941G>A	ClinVar
rs779794758	p.Val2418Met	missense variant	-	NC_000015.10:g.88872944G>A	ExAC,gnomAD
rs1422091307	p.Ile2420Phe	missense variant	-	NC_000015.10:g.88872950A>T	TOPMed
rs373470699	p.His2422Gln	missense variant	-	NC_000015.10:g.88872958C>G	ESP,ExAC,TOPMed,gnomAD
rs373470699	p.His2422Gln	missense variant	-	NC_000015.10:g.88872958C>A	ESP,ExAC,TOPMed,gnomAD
RCV000599395	p.His2422Ter	frameshift	-	NC_000015.10:g.88872957_88872967del	ClinVar
rs754538010	p.His2422Arg	missense variant	-	NC_000015.10:g.88872957A>G	ExAC,gnomAD
rs183636867	p.Glu2423Lys	missense variant	-	NC_000015.10:g.88872959G>A	1000Genomes,ExAC,gnomAD
rs772428950	p.Glu2423Ala	missense variant	-	NC_000015.10:g.88872960A>C	ExAC,gnomAD
rs778025458	p.Gly2425Ser	missense variant	-	NC_000015.10:g.88872965G>A	ExAC,gnomAD
rs201154137	p.Glu2426Lys	missense variant	-	NC_000015.10:g.88872968G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1262209687	p.Asp2429Gly	missense variant	-	NC_000015.10:g.88872978A>G	TOPMed
rs777044543	p.Asp2429His	missense variant	-	NC_000015.10:g.88872977G>C	ExAC,TOPMed,gnomAD
rs1008765397	p.Pro2431Arg	missense variant	-	NC_000015.10:g.88872984C>G	TOPMed
COSM3505213	p.Pro2431Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88872984C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys2432Phe	missense variant	-	NC_000015.10:g.88872987G>T	NCI-TCGA
rs1244031237	p.Asn2433Lys	missense variant	-	NC_000015.10:g.88872991T>G	TOPMed,gnomAD
rs1481552274	p.Leu2436Phe	missense variant	-	NC_000015.10:g.88872998C>T	gnomAD
rs759677135	p.Thr2439Met	missense variant	-	NC_000015.10:g.88873008C>T	ExAC,TOPMed,gnomAD
rs1285366415	p.Lys2441Glu	missense variant	-	NC_000015.10:g.88873013A>G	TOPMed
rs770216280	p.Thr2444Ile	missense variant	-	NC_000015.10:g.88873023C>T	gnomAD
rs1411069453	p.Val2445Leu	missense variant	-	NC_000015.10:g.88873025G>T	gnomAD
rs775742882	p.Val2445Ala	missense variant	-	NC_000015.10:g.88873842T>C	ExAC,gnomAD
rs543497679	p.Ala2446Val	missense variant	-	NC_000015.10:g.88873845C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202059945	p.Gly2448Arg	missense variant	-	NC_000015.10:g.88873850G>A	ESP,ExAC,TOPMed,gnomAD
rs202059945	p.Gly2448Arg	missense variant	-	NC_000015.10:g.88873850G>C	ESP,ExAC,TOPMed,gnomAD
rs766163010	p.Glu2449Gly	missense variant	-	NC_000015.10:g.88873854A>G	ExAC,gnomAD
rs1296754377	p.Pro2450His	missense variant	-	NC_000015.10:g.88873857C>A	TOPMed,gnomAD
rs375041472	p.Pro2450Thr	missense variant	-	NC_000015.10:g.88873856C>A	ESP,ExAC,TOPMed,gnomAD
rs375041472	p.Pro2450Ser	missense variant	-	NC_000015.10:g.88873856C>T	ESP,ExAC,TOPMed,gnomAD
rs1296754377	p.Pro2450Leu	missense variant	-	NC_000015.10:g.88873857C>T	TOPMed,gnomAD
rs764690562	p.Pro2451Leu	missense variant	-	NC_000015.10:g.88873860C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro2451LeuPheSerTerUnkUnkUnk	frameshift	-	NC_000015.10:g.88873856C>-	NCI-TCGA
NCI-TCGA novel	p.Val2453Ala	missense variant	-	NC_000015.10:g.88873866T>C	NCI-TCGA
rs757978070	p.His2455Arg	missense variant	-	NC_000015.10:g.88873872A>G	ExAC,gnomAD
rs752175506	p.His2455Tyr	missense variant	-	NC_000015.10:g.88873871C>T	ExAC,gnomAD
rs944371417	p.Ala2456Ser	missense variant	-	NC_000015.10:g.88873874G>T	gnomAD
rs764496641	p.Arg2457Thr	missense variant	-	NC_000015.10:g.88873878G>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg2457Ser	missense variant	-	NC_000015.10:g.88873879G>T	NCI-TCGA
COSM6078089	p.Arg2457Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88873877A>G	NCI-TCGA Cosmic
rs752177184	p.Thr2458Ile	missense variant	-	NC_000015.10:g.88873881C>T	ExAC,gnomAD
rs752177184	p.Thr2458Ser	missense variant	-	NC_000015.10:g.88873881C>G	ExAC,gnomAD
rs200180285	p.Gly2460Arg	missense variant	-	NC_000015.10:g.88873886G>C	ExAC,TOPMed,gnomAD
rs1247980914	p.Gly2460Glu	missense variant	-	NC_000015.10:g.88873887G>A	gnomAD
rs200180285	p.Gly2460Arg	missense variant	-	NC_000015.10:g.88873886G>A	ExAC,TOPMed,gnomAD
rs780471356	p.Lys2463Thr	missense variant	-	NC_000015.10:g.88873896A>C	ExAC,gnomAD
rs1414187913	p.Asp2464Glu	missense variant	-	NC_000015.10:g.88873900C>G	gnomAD
rs766292185	p.Arg2465Gly	missense variant	-	NC_000015.10:g.88873901C>G	ExAC,TOPMed,gnomAD
rs529444135	p.Arg2465Pro	missense variant	-	NC_000015.10:g.88873902G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs529444135	p.Arg2465Gln	missense variant	-	NC_000015.10:g.88873902G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs529444135	p.Arg2465Leu	missense variant	-	NC_000015.10:g.88873902G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs766292185	p.Arg2465Trp	missense variant	-	NC_000015.10:g.88873901C>T	ExAC,TOPMed,gnomAD
RCV000731280	p.Tyr2466Ter	nonsense	-	NC_000015.10:g.88873906T>G	ClinVar
rs1455683103	p.Glu2467Asp	missense variant	-	NC_000015.10:g.88873909G>T	TOPMed,gnomAD
rs1395160929	p.Val2472Glu	missense variant	-	NC_000015.10:g.88873923T>A	gnomAD
rs149099819	p.Arg2473Trp	missense variant	-	NC_000015.10:g.88873925C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs755055654	p.Arg2473Gln	missense variant	-	NC_000015.10:g.88873926G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg2473Leu	missense variant	-	NC_000015.10:g.88873926G>T	NCI-TCGA
rs1326588949	p.Thr2477Pro	missense variant	-	NC_000015.10:g.88873937A>C	gnomAD
rs1207580644	p.Thr2477Ile	missense variant	-	NC_000015.10:g.88873938C>T	gnomAD
COSM3794500	p.Glu2478Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88873940G>C	NCI-TCGA Cosmic
rs775273821	p.Gly2479Val	missense variant	-	NC_000015.10:g.88873944G>T	ExAC,gnomAD
rs1273204981	p.Gly2479Arg	missense variant	-	NC_000015.10:g.88873943G>C	gnomAD
rs762367567	p.Val2481Leu	missense variant	-	NC_000015.10:g.88873949G>C	ExAC,TOPMed,gnomAD
rs1245404838	p.Gln2482His	missense variant	-	NC_000015.10:g.88873954G>C	gnomAD
rs781181702	p.Arg2483Cys	missense variant	-	NC_000015.10:g.88873955C>T	ExAC,gnomAD
rs368796568	p.Arg2483His	missense variant	-	NC_000015.10:g.88873956G>A	ESP,ExAC,TOPMed,gnomAD
rs762433371	p.Pro2486His	missense variant	-	NC_000015.10:g.88873965C>A	ExAC,TOPMed,gnomAD
rs1395229720	p.Thr2487Pro	missense variant	-	NC_000015.10:g.88873967A>C	gnomAD
rs200868527	p.Arg2489Gln	missense variant	-	NC_000015.10:g.88873974G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM86637	p.Arg2489Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.88873973C>T	NCI-TCGA Cosmic
rs1351551297	p.Pro2492His	missense variant	-	NC_000015.10:g.88873983C>A	TOPMed
rs754092324	p.Pro2492Ser	missense variant	-	NC_000015.10:g.88873982C>T	ExAC,gnomAD
rs754952252	p.Ser2493Arg	missense variant	-	NC_000015.10:g.88873987C>A	ExAC,TOPMed,gnomAD
rs746885216	p.Gly2494Arg	missense variant	-	NC_000015.10:g.88873988G>A	ExAC,TOPMed,gnomAD
rs201983356	p.His2495Arg	missense variant	-	NC_000015.10:g.88873992A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp2496Ter	stop gained	-	NC_000015.10:g.88873996G>A	NCI-TCGA
rs781159162	p.Glu2498Lys	missense variant	-	NC_000015.10:g.88874000G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro2499Leu	missense variant	-	NC_000015.10:g.88874004C>T	NCI-TCGA
rs745652554	p.Pro2499Ala	missense variant	-	NC_000015.10:g.88874003C>G	ExAC,gnomAD
rs367553476	p.Gln2500Glu	missense variant	-	NC_000015.10:g.88874006C>G	ESP
rs1126823	p.Gln2500Arg	missense variant	-	NC_000015.10:g.88874007A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs367553476	p.Gln2500Ter	stop gained	-	NC_000015.10:g.88874006C>T	ESP
NCI-TCGA novel	p.Gln2500His	missense variant	-	NC_000015.10:g.88874008G>T	NCI-TCGA
rs1482202192	p.Thr2502Ile	missense variant	-	NC_000015.10:g.88874013C>T	gnomAD
rs1181728986	p.Cys2503Phe	missense variant	-	NC_000015.10:g.88874016G>T	gnomAD
rs774940617	p.Thr2504Pro	missense variant	-	NC_000015.10:g.88874018A>C	ExAC,gnomAD
rs1473797808	p.Thr2504Ile	missense variant	-	NC_000015.10:g.88874019C>T	gnomAD
rs1366599837	p.Asp2505Asn	missense variant	-	NC_000015.10:g.88874021G>A	TOPMed
rs1161491813	p.Asp2505Glu	missense variant	-	NC_000015.10:g.88874023C>A	gnomAD
rs201449366	p.Pro2506Ser	missense variant	-	NC_000015.10:g.88874024C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1387104778	p.Pro2506Leu	missense variant	-	NC_000015.10:g.88874405C>T	gnomAD
rs1434923438	p.Thr2507Ile	missense variant	-	NC_000015.10:g.88874408C>T	TOPMed,gnomAD
rs1480458370	p.Thr2507Ala	missense variant	-	NC_000015.10:g.88874407A>G	TOPMed
rs1302490330	p.Thr2508Ile	missense variant	-	NC_000015.10:g.88874411C>T	gnomAD
rs746554508	p.Arg2511His	missense variant	-	NC_000015.10:g.88874420G>A	ExAC,gnomAD
rs571382991	p.Arg2511Cys	missense variant	-	NC_000015.10:g.88874419C>T	1000Genomes,ExAC,gnomAD
rs1266256724	p.Arg2512Lys	missense variant	-	NC_000015.10:g.88874423G>A	gnomAD
rs771450196	p.Lys2515Thr	missense variant	-	NC_000015.10:g.88874432A>C	ExAC,gnomAD
rs759942986	p.Arg2516Leu	missense variant	-	NC_000015.10:g.88874435G>T	ExAC,TOPMed,gnomAD
rs759942986	p.Arg2516Gln	missense variant	-	NC_000015.10:g.88874435G>A	ExAC,TOPMed,gnomAD
rs538486886	p.Arg2516Trp	missense variant	-	NC_000015.10:g.88874434C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs377398069	p.Arg2519Gln	missense variant	-	NC_000015.10:g.88874444G>A	ESP,ExAC,TOPMed,gnomAD
rs1197846362	p.Arg2519Trp	missense variant	-	NC_000015.10:g.88874443C>T	gnomAD
rs377398069	p.Arg2519Pro	missense variant	-	NC_000015.10:g.88874444G>C	ESP,ExAC,TOPMed,gnomAD
rs775633191	p.His2520Arg	missense variant	-	NC_000015.10:g.88874447A>G	ExAC,gnomAD
rs1156317911	p.Pro2521Ser	missense variant	-	NC_000015.10:g.88874449C>T	gnomAD
rs763186710	p.Arg2522Gln	missense variant	-	NC_000015.10:g.88874453G>A	ExAC,TOPMed,gnomAD
rs1410577378	p.Arg2522Trp	missense variant	-	NC_000015.10:g.88874452C>T	TOPMed,gnomAD
rs764118916	p.Arg2523Ser	missense variant	-	NC_000015.10:g.88874457G>T	ExAC,gnomAD
rs983310631	p.Arg2523Gly	missense variant	-	NC_000015.10:g.88874455A>G	TOPMed
rs1373588215	p.Ser2524Arg	missense variant	-	NC_000015.10:g.88874460C>G	gnomAD
rs1393380279	p.Ser2524Cys	missense variant	-	NC_000015.10:g.88874458A>T	gnomAD
rs1393380279	p.Ser2524Gly	missense variant	-	NC_000015.10:g.88874458A>G	gnomAD
rs368681276	p.Arg2525Ser	missense variant	-	NC_000015.10:g.88874461C>A	ESP,ExAC,TOPMed,gnomAD
rs368681276	p.Arg2525Cys	missense variant	-	NC_000015.10:g.88874461C>T	ESP,ExAC,TOPMed,gnomAD
rs186576211	p.Arg2525His	missense variant	-	NC_000015.10:g.88874462G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368681276	p.Arg2525Gly	missense variant	-	NC_000015.10:g.88874461C>G	ESP,ExAC,TOPMed,gnomAD
rs1351354723	p.Pro2526Leu	missense variant	-	NC_000015.10:g.88874465C>T	gnomAD
rs1286606798	p.Ser2527Asn	missense variant	-	NC_000015.10:g.88874468G>A	gnomAD
rs1328562026	p.Ala2529Asp	missense variant	-	NC_000015.10:g.88874474C>A	gnomAD
NCI-TCGA novel	p.Ala2529Thr	missense variant	-	NC_000015.10:g.88874473G>A	NCI-TCGA

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001080	Achondroplasia	disease	BEFREE
C0002395	Alzheimer's Disease	disease	BEFREE
C0002726	Amyloidosis	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0003864	Arthritis	disease	BEFREE
C0003873	Rheumatoid Arthritis	disease	BEFREE;CTD_human;LHGDN
C0004153	Atherosclerosis	disease	BEFREE
C0004352	Autistic Disorder	group	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0004681	Bagassosis	disease	CTD_human
C0005890	Body Height	phenotype	GWASCAT;GWASDB
C0007102	Malignant tumor of colon	disease	BEFREE
C0008441	Chondroblastoma	disease	BEFREE
C0008449	Congenital anomaly of cartilage	group	BEFREE
C0008479	Chondrosarcoma	disease	BEFREE
C0008487	Chordoma	disease	BEFREE
C0011854	Diabetes Mellitus, Insulin-Dependent	disease	BEFREE
C0013336	Dwarfism	disease	BEFREE
C0018801	Heart failure	disease	RGD
C0018802	Congestive heart failure	disease	RGD
C0018834	Heartburn	phenotype	BEFREE
C0019270	Hernia	phenotype	BEFREE
C0019825	Hoarseness	phenotype	HPO
C0022408	Arthropathy	group	BEFREE
C0025995	Micromelia	disease	BEFREE;HPO
C0026760	Multiple Epiphyseal Dysplasia	disease	BEFREE
C0027339	Nail Diseases	group	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0028754	Obesity	disease	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE;HPO;LHGDN
C0029421	Osteochondritis Dissecans	disease	BEFREE;CLINVAR;HPO
C0029422	Osteochondrodysplasias	group	BEFREE;LHGDN
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0030193	Pain	phenotype	BEFREE
C0030481	Tropical Spastic Paraparesis	disease	LHGDN
C0032273	Pneumoconiosis	disease	CTD_human
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0033300	Progeria	disease	BEFREE;LHGDN
C0036341	Schizophrenia	disease	LHGDN
C0036439	Scoliosis, unspecified	phenotype	LHGDN
C0036572	Seizures	phenotype	BEFREE
C0038012	Spondylitis	disease	BEFREE
C0038015	Spondyloepiphyseal Dysplasia	disease	BEFREE;HPO
C0038220	Status Epilepticus	disease	RGD
C0042164	Uveitis	disease	BEFREE
C0085700	Chondromalacia	disease	BEFREE
C0086437	Joint laxity	phenotype	HPO
C0149630	Bicuspid aortic valve	disease	BEFREE
C0157946	Osteoarthrosis, localized, not specified whether primary or secondary	disease	RGD
C0158252	Intervertebral disc disorder	group	BEFREE
C0158266	Intervertebral Disc Degeneration	disease	BEFREE
C0162323	Polyarthritis	disease	BEFREE
C0202117	Low density lipoprotein cholesterol measurement	phenotype	GWASDB
C0221357	Brachydactyly	disease	HPO
C0221775	Lumbar disc disease	disease	BEFREE
C0231712	Waddling gait	phenotype	HPO
C0238288	Muscular Dystrophy, Facioscapulohumeral	disease	CTD_human
C0242362	Disk, Herniated	phenotype	BEFREE
C0242381	Lyme Arthritis	disease	BEFREE
C0262361	Growth abnormality	phenotype	HPO
C0263746	Osteoarthritis of the hand	disease	BEFREE
C0264172	Barrel chest	phenotype	HPO
C0271183	Severe myopia	disease	BEFREE
C0302501	Mandibular hyperplasia	phenotype	HPO
C0349588	Short stature	phenotype	HPO
C0392885	High density lipoprotein measurement	phenotype	GWASDB
C0399526	Class III malocclusion	disease	HPO
C0403367	proliferative nephritis unspecified	disease	BEFREE
C0409959	Osteoarthritis, Knee	disease	BEFREE
C0410528	Skeletal dysplasia	disease	BEFREE
C0410538	Pseudoachondroplasia	disease	BEFREE
C0410606	Cervical Disc Degenerative Disorder	disease	RGD
C0426789	Short thorax	phenotype	HPO
C0426891	Broad thumbs	phenotype	HPO
C0431890	Hypoplasia of thumb	disease	HPO
C0432211	Spondyloepimetaphyseal disorder	disease	HPO
C0455806	Infant length	phenotype	GWASCAT
C0455829	Waist Circumference	phenotype	GWASCAT
C0521525	Short neck	phenotype	HPO
C0541764	Delayed bone age	phenotype	HPO
C0544755	Genu varum	phenotype	HPO
C0549306	Mesomelia	disease	HPO
C0562350	Hip circumference	phenotype	GWASCAT
C0574960	Sacroiliitis	disease	BEFREE
C0576093	Knee joint valgus deformity	phenotype	HPO
C0578022	Finding of body mass index	phenotype	GWASCAT
C0744483	growth hormone treatment	disease	BEFREE
C0853087	Nail abnormality	phenotype	HPO
C0878660	Proportionate short stature	phenotype	HPO
C0949691	Spondylarthropathies	group	BEFREE
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1184923	Lumbar hyperlordosis	phenotype	HPO
C1260922	Abnormal breathing	phenotype	HPO
C1261473	Sarcoma	group	BEFREE
C1305855	Body mass index	phenotype	GWASCAT
C1442903	Exostoses	phenotype	HPO
C1445957	Serum total cholesterol measurement	phenotype	GWASDB
C1510586	Autism Spectrum Disorders	disease	BEFREE
C1519383	Smoking Behaviors	phenotype	GWASCAT
C1568272	Tendinopathy	disease	BEFREE
C1568363	Tendinosis	disease	BEFREE
C1659989	Respiratory problem	phenotype	HPO
C1835121	Premature osteoarthritis	disease	BEFREE
C1837888	Absent nasal bridge	disease	HPO
C1842149	Spondyloepiphyseal Dysplasia, Kimberley Type	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C1842155	Flat capital femoral epiphysis	phenotype	HPO
C1844704	Platyspondyly	phenotype	HPO
C1848980	Developmental stagnation	phenotype	HPO
C1849075	Relative macrocephaly	disease	HPO
C1853242	Midface retrusion	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1866730	Rhizomelia	disease	HPO
C2227134	mandibular excess (physical finding)	phenotype	HPO
C2673410	Small midface	phenotype	HPO
C2745959	Spondyloepiphyseal dysplasia, congenita	disease	BEFREE
C2745963	Kashin-Beck Disease	disease	BEFREE
C2748544	Spondyloepimetaphyseal Dysplasia, Aggrecan Type	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C2931073	Collagenopathy, type 2 alpha 1	disease	BEFREE
C3542024	AORTIC VALVE DISEASE 2	disease	BEFREE
C3665488	Familial Osteochondritis Dissecans	disease	BEFREE;CTD_human;ORPHANET;UNIPROT
C3714534	dowling-degos disease	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3840085	Disorder of Achilles tendon	disease	BEFREE
C4021611	Abnormality of epiphysis morphology	phenotype	HPO
C4049938	Physical Activity Measurement	phenotype	GWASCAT
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280644	Increased size of the mandible	phenotype	HPO
C4280645	Hypertrophy of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005201	extracellular matrix structural constituent	TAS
GO:0005515	protein binding	IPI
GO:0005540	hyaluronic acid binding	IEA
GO:0030021	extracellular matrix structural constituent conferring compression resistance	RCA
GO:0030246	carbohydrate binding	IEA
GO:0046872	metal ion binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001501	skeletal system development	NAS
GO:0001501	skeletal system development	IBA
GO:0001502	cartilage condensation	IEA
GO:0002063	chondrocyte development	IEA
GO:0006508	proteolysis	NAS
GO:0007155	cell adhesion	IEA
GO:0007417	central nervous system development	IBA
GO:0007507	heart development	IEA
GO:0018146	keratan sulfate biosynthetic process	TAS
GO:0030166	proteoglycan biosynthetic process	IEA
GO:0030198	extracellular matrix organization	TAS
GO:0030199	collagen fibril organization	IEA
GO:0042340	keratan sulfate catabolic process	TAS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005604	basement membrane	IEA
GO:0005796	Golgi lumen	TAS
GO:0031012	extracellular matrix	IBA
GO:0043202	lysosomal lumen	TAS
GO:0062023	collagen-containing extracellular matrix	HDA
GO:0098966	perisynaptic extracellular matrix	IEA
GO:0098978	glutamatergic synapse	IEA
GO:0098982	GABA-ergic synapse	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1430728	Metabolism	TAS
R-HSA-1474228	Degradation of the extracellular matrix	IEA
R-HSA-1474228	Degradation of the extracellular matrix	TAS
R-HSA-1474244	Extracellular matrix organization	IEA
R-HSA-1474244	Extracellular matrix organization	TAS
R-HSA-1630316	Glycosaminoglycan metabolism	TAS
R-HSA-1638074	Keratan sulfate/keratin metabolism	TAS
R-HSA-1643685	Disease	TAS
R-HSA-2022854	Keratan sulfate biosynthesis	TAS
R-HSA-2022857	Keratan sulfate degradation	TAS
R-HSA-3000178	ECM proteoglycans	TAS
R-HSA-3560782	Diseases associated with glycosaminoglycan metabolism	TAS
R-HSA-3656225	Defective CHST6 causes MCDC1	TAS
R-HSA-3656243	Defective ST3GAL3 causes MCT12 and EIEE15	TAS
R-HSA-3656244	Defective B4GALT1 causes B4GALT1-CDG (CDG-2d)	TAS
R-HSA-3781865	Diseases of glycosylation	TAS
R-HSA-71387	Metabolism of carbohydrates	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of ACAN mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ACAN mRNA	28628672
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of ACAN mRNA	28628672
C000594958	3,4,5-trihydroxy-N-(4-(thiazol-2-ylsulfamoyl)-phenyl)-benzamide	3,4,5-trihydroxy-N-(4-(thiazol-2-ylsulfamoyl)-phenyl)-benzamide results in increased expression of ACAN mRNA	26107568
C496492	abrine	abrine results in increased expression of ACAN mRNA	31054353
C056498	aceclofenac	aceclofenac results in increased expression of ACAN protein	11950021
D020106	Acrylamide	Acrylamide results in decreased expression of ACAN mRNA	16876394
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of ACAN gene	27153756
D000077322	Alginic Acid	Alginic Acid results in increased expression of ACAN mRNA	16371897
D000584	Amiloride	Amiloride affects the expression of ACAN mRNA	20454829
D018501	Antirheumatic Agents	Antirheumatic Agents results in increased expression of ACAN mRNA	24449571
C011669	ascorbate-2-phosphate	ascorbate-2-phosphate results in increased expression of ACAN mRNA	11852233
D001205	Ascorbic Acid	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA]	26526931
D001205	Ascorbic Acid	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA]]	26526931
D001205	Ascorbic Acid	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA	26526931
C547126	AZM551248	AZM551248 results in increased expression of ACAN mRNA	22323515
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of ACAN mRNA	22228805
D001599	Berberine	Berberine results in decreased expression of ACAN mRNA	26478571
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of ACAN mRNA	28628672
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ACAN mRNA	28628672
C006780	bisphenol A	bisphenol A results in decreased expression of ACAN mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased expression of ACAN mRNA	29097150
C000611646	bisphenol F	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of ACAN mRNA	28628672
C038091	butylparaben	butylparaben results in decreased expression of ACAN mRNA	28527915
C018475	butyraldehyde	butyraldehyde results in decreased expression of ACAN mRNA	26079696
C055494	caffeic acid phenethyl ester	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of ACAN mRNA	20360939
D002110	Caffeine	Caffeine results in decreased expression of ACAN mRNA	29966748
D000068579	Celecoxib	Celecoxib affects the expression of ACAN mRNA	16273290
D048271	Chitosan	[Chitosan co-treated with Polylactic Acid-Polyglycolic Acid Copolymer] results in increased expression of ACAN mRNA	17607738
D003042	Cocaine	Cocaine affects the expression of ACAN mRNA	20187946
D003345	Corticosterone	Corticosterone results in decreased expression of ACAN mRNA	29660438; 29966748;
D000069439	Dasatinib	Dasatinib results in increased expression of ACAN mRNA	20579391
D003907	Dexamethasone	Dexamethasone inhibits the reaction [BMP2 protein results in increased expression of ACAN mRNA]	17502159
D003907	Dexamethasone	Dexamethasone results in decreased expression of ACAN mRNA	27608943
D003907	Dexamethasone	Dexamethasone results in increased expression of ACAN mRNA	21351055; 25047013;
D003907	Dexamethasone	IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA]	26526931
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of ACAN mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ACAN mRNA	28628672
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of ACAN mRNA	28628672
D003907	Dexamethasone	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA]]	26526931
D003907	Dexamethasone	[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA	26526931
D003907	Dexamethasone	Dexamethasone results in decreased expression of ACAN mRNA	29329878
C025292	diacetylrhein	diacetylrhein inhibits the reaction [IL1B protein results in decreased expression of ACAN mRNA]	18321735
C025292	diacetylrhein	diacetylrhein results in increased expression of ACAN mRNA	18321735
D004052	Diethylnitrosamine	[Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of ACAN mRNA	20360939
D000431	Ethanol	Ethanol results in increased expression of ACAN mRNA	30319688
D000431	Ethanol	Ethanol results in decreased expression of ACAN mRNA	17920746
D005557	Formaldehyde	Formaldehyde results in decreased expression of ACAN mRNA	17938736
D005707	Gallic Acid	Gallic Acid results in decreased expression of ACAN mRNA	25130855
D005707	Gallic Acid	Gallic Acid results in decreased expression of ACAN mRNA	26107568
D005944	Glucosamine	Glucosamine analog affects the expression of ACAN mRNA	17337215
D005944	Glucosamine	Glucosamine analog affects the reaction [IL1B results in decreased expression of ACAN mRNA]	17337215
D005944	Glucosamine	Glucosamine analog results in decreased expression of ACAN mRNA	16300972
D005944	Glucosamine	Glucosamine analog results in increased expression of ACAN protein	17337215
D005944	Glucosamine	Glucosamine inhibits the reaction [IL1B protein results in decreased expression of ACAN mRNA]	18321735
D005944	Glucosamine	Glucosamine results in decreased cleavage of and results in decreased secretion of ACAN protein	19909832
D005944	Glucosamine	Glucosamine results in increased expression of ACAN mRNA	12801482; 18321735;
D005944	Glucosamine	Glucosamine results in increased expression of ACAN protein	12801482
D005944	Glucosamine	Glucosamine results in increased expression of ACAN mRNA	16872674
D005944	Glucosamine	Glucosamine inhibits the reaction [IL1B results in decreased expression of ACAN mRNA]	17109745
C065632	glucosamine 3-O-sulfate	glucosamine 3-O-sulfate results in decreased expression of ACAN mRNA	16300972
D006820	Hyaluronic Acid	[Hyaluronic Acid co-treated with Resveratrol] results in increased expression of ACAN mRNA	23595953
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in decreased expression of ACAN mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in decreased expression of ACAN mRNA	28628672
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in decreased expression of ACAN mRNA	28628672
D007213	Indomethacin	Indomethacin results in increased expression of ACAN protein	11950021
C005056	isoascorbic acid	isoascorbic acid results in increased expression of ACAN mRNA	11852233
C008261	lead acetate	BMP2 promotes the reaction [lead acetate results in increased expression of ACAN mRNA]	17805416
C008261	lead acetate	lead acetate promotes the reaction [BMP2 results in increased expression of ACAN mRNA]	17805416
C008261	lead acetate	lead acetate results in increased expression of ACAN mRNA	17805416
C557799	LY-2157299	LY-2157299 results in decreased expression of ACAN mRNA	29660438
D008550	Melatonin	Melatonin results in increased expression of ACAN mRNA	20738756
D008798	Mevalonic Acid	Mevalonic Acid inhibits the reaction [Simvastatin results in increased expression of ACAN mRNA]	18628692
D009151	Mustard Gas	Mustard Gas results in decreased expression of ACAN mRNA	15674843
C502362	N-butyrylglucosamine	N-butyrylglucosamine results in increased expression of ACAN mRNA	15240824
D009538	Nicotine	Nicotine results in decreased expression of ACAN mRNA	29660438; 31299270;
D010269	Paraquat	Paraquat results in decreased expression of ACAN mRNA	26108578
D010936	Plant Extracts	Plant Extracts results in decreased expression of ACAN mRNA	23557933
D000077182	Polylactic Acid-Polyglycolic Acid Copolymer	[Chitosan co-treated with Polylactic Acid-Polyglycolic Acid Copolymer] results in increased expression of ACAN mRNA	17607738
D011374	Progesterone	Progesterone results in increased expression of ACAN protein	20673848
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of ACAN mRNA	24780913; 25825206;
D000077185	Resveratrol	Resveratrol inhibits the reaction [IL1B protein inhibits the reaction [[TGFB3 protein co-treated with Ascorbic Acid co-treated with Dexamethasone] results in increased expression of ACAN mRNA]]	26526931
D000077185	Resveratrol	[Hyaluronic Acid co-treated with Resveratrol] results in increased expression of ACAN mRNA	23595953
D000077185	Resveratrol	Resveratrol results in decreased expression of ACAN mRNA	23772162
D000077185	Resveratrol	Resveratrol results in decreased degradation of ACAN protein	20825639
D019821	Simvastatin	Mevalonic Acid inhibits the reaction [Simvastatin results in increased expression of ACAN mRNA]	18628692
D019821	Simvastatin	NOG inhibits the reaction [Simvastatin results in increased expression of ACAN mRNA]	18628692
D019821	Simvastatin	Simvastatin results in increased expression of ACAN mRNA	18628692; 19912653;
C017947	sodium arsenite	sodium arsenite results in decreased expression of ACAN mRNA	29301061
C017947	sodium arsenite	sodium arsenite results in decreased expression of ACAN mRNA	28206643
D018038	Sodium Selenite	Sodium Selenite results in decreased expression of ACAN mRNA	18175754
D013420	Sulfamethoxazole	Sulfamethoxazole results in decreased expression of ACAN mRNA	26107568
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of ACAN mRNA	16624732; 18196609;
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of ACAN protein	16624732
D013605	T-2 Toxin	T-2 Toxin results in decreased expression of ACAN mRNA	22800716
C061133	tamibarotene	tamibarotene affects the expression of ACAN mRNA	15498508
D014212	Tretinoin	Tretinoin results in decreased expression of ACAN mRNA	15498508
D014212	Tretinoin	Tretinoin results in decreased expression of ACAN mRNA	16410076; 22498432;
D014260	Triclosan	Triclosan results in decreased expression of ACAN mRNA	30510588
D014635	Valproic Acid	Valproic Acid results in decreased expression of ACAN mRNA	29427782

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0106	Calcium
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0242	Dwarfism
KW-0245	EGF-like domain
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0393	Immunoglobulin domain
KW-0430	Lectin
KW-0479	Metal-binding
KW-0621	Polymorphism
KW-0654	Proteoglycan
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal
KW-0768	Sushi

Interpro

InterPro ID	InterPro Term
IPR001304	C-type_lectin-like
IPR016186	C-type_lectin-like/link_sf
IPR018378	C-type_lectin_CS
IPR033987	CSPG_CTLD
IPR016187	CTDL_fold
IPR013032	EGF-like_CS
IPR000742	EGF-like_dom
IPR007110	Ig-like_dom
IPR036179	Ig-like_dom_sf
IPR013783	Ig-like_fold
IPR003006	Ig/MHC_CS
IPR003599	Ig_sub
IPR013106	Ig_V-set
IPR000538	Link_dom
IPR035976	Sushi/SCR/CCP_sf
IPR000436	Sushi_SCR_CCP_dom

PROSITE

PROSITE ID	PROSITE Term
PS00615	C_TYPE_LECTIN_1
PS50041	C_TYPE_LECTIN_2
PS00022	EGF_1
PS01186	EGF_2
PS50026	EGF_3
PS50835	IG_LIKE
PS00290	IG_MHC
PS01241	LINK_1
PS50963	LINK_2
PS50923	SUSHI

Pfam

Pfam ID	Pfam Term
PF00059	Lectin_C
PF00084	Sushi
PF07686	V-set
PF00193	Xlink

Gene: ACAN

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction