CleftGeneDB-Search

Gene: COL11A1

Basic information

Tag	Content
Uniprot ID	P12107; B1ASK7; D3DT73; E9PCU0; Q14034; Q149N0; Q9UIT4; Q9UIT5; Q9UIT6;
Entrez ID	1301
Genbank protein ID	EAW72908.1; AAF04724.1; AAF04726.1; AAI17698.1; AAA79171.1; AAA51891.1; EAW72910.1; AAF04725.1;
Genbank nucleotide ID	NM_080629.2; NM_080630.3; NM_001190709.1; NM_001854.3;
Ensembl protein ID	ENSP00000351163; ENSP00000426533; ENSP00000359114; ENSP00000302551;
Ensembl nucleotide ID	ENSG00000060718
Gene name	Collagen alpha-1(XI) chain
Gene symbol	COL11A1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	May play an important role in fibrillogenesis by controlling lateral growth of collagen II fibrils.
Sequence	MEPWSSRWKT KRWLWDFTVT TLALTFLFQA REVRGAAPVD VLKALDFHNS PEGISKTTGF 60 CTNRKNSKGS DTAYRVSKQA QLSAPTKQLF PGGTFPEDFS ILFTVKPKKG IQSFLLSIYN 120 EHGIQQIGVE VGRSPVFLFE DHTGKPAPED YPLFRTVNIA DGKWHRVAIS VEKKTVTMIV 180 DCKKKTTKPL DRSERAIVDT NGITVFGTRI LDEEVFEGDI QQFLITGDPK AAYDYCEHYS 240 PDCDSSAPKA AQAQEPQIDE YAPEDIIEYD YEYGEAEYKE AESVTEGPTV TEETIAQTEA 300 NIVDDFQEYN YGTMESYQTE APRHVSGTNE PNPVEEIFTE EYLTGEDYDS QRKNSEDTLY 360 ENKEIDGRDS DLLVDGDLGE YDFYEYKEYE DKPTSPPNEE FGPGVPAETD ITETSINGHG 420 AYGEKGQKGE PAVVEPGMLV EGPPGPAGPA GIMGPPGLQG PTGPPGDPGD RGPPGRPGLP 480 GADGLPGPPG TMLMLPFRYG GDGSKGPTIS AQEAQAQAIL QQARIALRGP PGPMGLTGRP 540 GPVGGPGSSG AKGESGDPGP QGPRGVQGPP GPTGKPGKRG RPGADGGRGM PGEPGAKGDR 600 GFDGLPGLPG DKGHRGERGP QGPPGPPGDD GMRGEDGEIG PRGLPGEAGP RGLLGPRGTP 660 GAPGQPGMAG VDGPPGPKGN MGPQGEPGPP GQQGNPGPQG LPGPQGPIGP PGEKGPQGKP 720 GLAGLPGADG PPGHPGKEGQ SGEKGALGPP GPQGPIGYPG PRGVKGADGV RGLKGSKGEK 780 GEDGFPGFKG DMGLKGDRGE VGQIGPRGED GPEGPKGRAG PTGDPGPSGQ AGEKGKLGVP 840 GLPGYPGRQG PKGSTGFPGF PGANGEKGAR GVAGKPGPRG QRGPTGPRGS RGARGPTGKP 900 GPKGTSGGDG PPGPPGERGP QGPQGPVGFP GPKGPPGPPG KDGLPGHPGQ RGETGFQGKT 960 GPPGPGGVVG PQGPTGETGP IGERGHPGPP GPPGEQGLPG AAGKEGAKGD PGPQGISGKD 1020 GPAGLRGFPG ERGLPGAQGA PGLKGGEGPQ GPPGPVGSPG ERGSAGTAGP IGLPGRPGPQ 1080 GPPGPAGEKG APGEKGPQGP AGRDGVQGPV GLPGPAGPAG SPGEDGDKGE IGEPGQKGSK 1140 GDKGENGPPG PPGLQGPVGA PGIAGGDGEP GPRGQQGMFG QKGDEGARGF PGPPGPIGLQ 1200 GLPGPPGEKG ENGDVGPMGP PGPPGPRGPQ GPNGADGPQG PPGSVGSVGG VGEKGEPGEA 1260 GNPGPPGEAG VGGPKGERGE KGEAGPPGAA GPPGAKGPPG DDGPKGNPGP VGFPGDPGPP 1320 GEPGPAGQDG VGGDKGEDGD PGQPGPPGPS GEAGPPGPPG KRGPPGAAGA EGRQGEKGAK 1380 GEAGAEGPPG KTGPVGPQGP AGKPGPEGLR GIPGPVGEQG LPGAAGQDGP PGPMGPPGLP 1440 GLKGDPGSKG EKGHPGLIGL IGPPGEQGEK GDRGLPGTQG SPGAKGDGGI PGPAGPLGPP 1500 GPPGLPGPQG PKGNKGSTGP AGQKGDSGLP GPPGSPGPPG EVIQPLPILS SKKTRRHTEG 1560 MQADADDNIL DYSDGMEEIF GSLNSLKQDI EHMKFPMGTQ TNPARTCKDL QLSHPDFPDG 1620 EYWIDPNQGC SGDSFKVYCN FTSGGETCIY PDKKSEGVRI SSWPKEKPGS WFSEFKRGKL 1680 LSYLDVEGNS INMVQMTFLK LLTASARQNF TYHCHQSAAW YDVSSGSYDK ALRFLGSNDE 1740 EMSYDNNPFI KTLYDGCASR KGYEKTVIEI NTPKIDQVPI VDVMINDFGD QNQKFGFEVG 1800 PVCFLG 1806

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Developmental stage	Species	Evidence	Details
1:1 ortholog	COL11A1	100685969	J9NYK4			Canis lupus familiaris	Prediction	More>>
1:1 ortholog	COL11A1		A0A452ECM1			Capra hircus	Prediction	More>>
1:1 ortholog	COL11A1	1301	P12107			Homo sapiens	Prediction	More>>
1:1 ortholog	Col11a1	12814	Q61245	CPO	E14.5	Mus musculus	Publication	More>>
1:1 ortholog	COL11A1		A0A2I3RPT1			Pan troglodytes	Prediction	More>>
1:1 ortholog	COL11A1	100349413	G1T5B6			Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Col11a1	25654	P20909			Rattus norvegicus	Prediction	More>>
1:1 ortholog	col11a1a	565402	A2RUX5			Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs754339349	p.Pro3Leu	missense variant	-	NC_000001.11:g.103108171G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro3Ala	missense variant	-	NC_000001.11:g.103108172G>C	NCI-TCGA
rs754339349	p.Pro3Leu	missense variant	-	NC_000001.11:g.103108171G>A	ExAC,gnomAD
NCI-TCGA novel	p.Trp4Cys	missense variant	-	NC_000001.11:g.103108167C>A	NCI-TCGA
rs766915989	p.Trp4Arg	missense variant	-	NC_000001.11:g.103108169A>G	ExAC,gnomAD
rs528624430	p.Ser6Phe	missense variant	-	NC_000001.11:g.103108162G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg7Gly	missense variant	-	NC_000001.11:g.103108160T>C	NCI-TCGA
rs1244836532	p.Arg7Lys	missense variant	-	NC_000001.11:g.103108159C>T	TOPMed
rs12025888	p.Trp8Gly	missense variant	-	NC_000001.11:g.103108157A>C	-
rs12025888	p.Trp8Gly	missense variant	-	NC_000001.11:g.103108157A>C	UniProt,dbSNP
VAR_047723	p.Trp8Gly	missense variant	-	NC_000001.11:g.103108157A>C	UniProt
rs1024598882	p.Thr10Met	missense variant	-	NC_000001.11:g.103108150G>A	-
rs1448932139	p.Thr10Ala	missense variant	-	NC_000001.11:g.103108151T>C	gnomAD
rs1024598882	p.Thr10Met	missense variant	-	NC_000001.11:g.103108150G>A	NCI-TCGA Cosmic
rs773297282	p.Lys11Glu	missense variant	-	NC_000001.11:g.103108148T>C	ExAC,gnomAD
RCV000271577	p.Arg12Pro	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103108144C>G	ClinVar
COSM4020030	p.Arg12Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103108145G>A	NCI-TCGA Cosmic
RCV000312535	p.Arg12Pro	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103108144C>G	ClinVar
RCV000367252	p.Arg12Pro	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103108144C>G	ClinVar
rs767496065	p.Arg12Gln	missense variant	-	NC_000001.11:g.103108144C>T	ExAC,TOPMed,gnomAD
rs767496065	p.Arg12Pro	missense variant	-	NC_000001.11:g.103108144C>G	ExAC,TOPMed,gnomAD
rs767496065	p.Arg12Leu	missense variant	-	NC_000001.11:g.103108144C>A	ExAC,TOPMed,gnomAD
rs762034138	p.Trp13Cys	missense variant	-	NC_000001.11:g.103108140C>A	ExAC,gnomAD
rs774767622	p.Trp15Arg	missense variant	-	NC_000001.11:g.103108136A>T	NCI-TCGA
rs774767622	p.Trp15Arg	missense variant	-	NC_000001.11:g.103108136A>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe17Leu	missense variant	-	NC_000001.11:g.103108128G>T	NCI-TCGA
COSM3470531	p.Thr18Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103108126G>A	NCI-TCGA Cosmic
rs114630202	p.Thr18Ala	missense variant	-	NC_000001.11:g.103108127T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs114630202	p.Thr18Ser	missense variant	-	NC_000001.11:g.103108127T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770851098	p.Val19Ile	missense variant	-	NC_000001.11:g.103108124C>T	ExAC,gnomAD
rs1284115273	p.Thr20Arg	missense variant	-	NC_000001.11:g.103108120G>C	TOPMed
NCI-TCGA novel	p.Thr21ProPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.103108118_103108119insCGCGGCCGGAGGGTCCCGGCCGG	NCI-TCGA
rs375761728	p.Thr21Ile	missense variant	-	NC_000001.11:g.103108117G>A	ESP,ExAC,TOPMed,gnomAD
rs375761728	p.Thr21Asn	missense variant	-	NC_000001.11:g.103108117G>T	ESP,ExAC,TOPMed,gnomAD
COSM6057172	p.Leu22His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103108114A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu22Pro	missense variant	-	NC_000001.11:g.103108114A>G	NCI-TCGA
rs1327862186	p.Leu22Phe	missense variant	-	NC_000001.11:g.103108115G>A	TOPMed,gnomAD
rs1386580787	p.Ala23Thr	missense variant	-	NC_000001.11:g.103108112C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala23ArgPheSerTerUnk	frameshift	-	NC_000001.11:g.103108112_103108113insG	NCI-TCGA
rs1386580787	p.Ala23Pro	missense variant	-	NC_000001.11:g.103108112C>G	TOPMed,gnomAD
rs1386580787	p.Ala23Thr	missense variant	-	NC_000001.11:g.103108112C>T	TOPMed,gnomAD
rs1386580787	p.Ala23Ser	missense variant	-	NC_000001.11:g.103108112C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu24Phe	missense variant	-	NC_000001.11:g.103108107C>G	NCI-TCGA
rs1166096502	p.Arg31Thr	missense variant	-	NC_000001.11:g.103108087C>G	gnomAD
rs778603790	p.Glu32Gly	missense variant	-	NC_000001.11:g.103108084T>C	ExAC,gnomAD
rs755307749	p.Val33Ile	missense variant	-	NC_000001.11:g.103108082C>T	ExAC,TOPMed,gnomAD
rs1407144872	p.Arg34Ile	missense variant	-	NC_000001.11:g.103108078C>A	TOPMed
rs369749483	p.Ala37Val	missense variant	-	NC_000001.11:g.103082969G>A	ESP,ExAC,TOPMed,gnomAD
rs781586633	p.Pro38Leu	missense variant	-	NC_000001.11:g.103082966G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro38Thr	missense variant	-	NC_000001.11:g.103082967G>T	NCI-TCGA
rs1219599526	p.Val39Ala	missense variant	-	NC_000001.11:g.103082963A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp40Asn	missense variant	-	NC_000001.11:g.103082961C>T	NCI-TCGA
rs751641017	p.Val41Ile	missense variant	-	NC_000001.11:g.103082958C>T	ExAC,TOPMed,gnomAD
RCV000601599	p.Ala44Thr	missense variant	-	NC_000001.11:g.103082949C>T	ClinVar
NCI-TCGA novel	p.Ala44HisPheSerTerUnk	frameshift	-	NC_000001.11:g.103082950T>-	NCI-TCGA
rs1470129804	p.Ala44Gly	missense variant	-	NC_000001.11:g.103082948G>C	gnomAD
rs150090939	p.Ala44Thr	missense variant	-	NC_000001.11:g.103082949C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1038296607	p.Leu45Val	missense variant	-	NC_000001.11:g.103082946G>C	TOPMed,gnomAD
RCV000275406	p.Asp46Glu	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103082941A>C	ClinVar
RCV000333355	p.Asp46Glu	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103082941A>C	ClinVar
RCV000250002	p.Asp46Glu	missense variant	-	NC_000001.11:g.103082941A>C	ClinVar
RCV000383797	p.Asp46Glu	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103082941A>C	ClinVar
rs1292563811	p.Asp46Val	missense variant	-	NC_000001.11:g.103082942T>A	gnomAD
rs11164663	p.Asp46Glu	missense variant	-	NC_000001.11:g.103082941A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe47Leu	missense variant	-	NC_000001.11:g.103082940A>G	NCI-TCGA
rs143159512	p.Phe47Ile	missense variant	-	NC_000001.11:g.103082940A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM674558	p.His48Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082935G>T	NCI-TCGA Cosmic
rs1186262161	p.His48Arg	missense variant	-	NC_000001.11:g.103082936T>C	gnomAD
RCV000518863	p.Asn49Ser	missense variant	-	NC_000001.11:g.103082933T>C	ClinVar
rs145159429	p.Asn49Ser	missense variant	-	NC_000001.11:g.103082933T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771956360	p.Pro51Arg	missense variant	-	NC_000001.11:g.103082927G>C	ExAC,gnomAD
rs1047945584	p.Glu52Asp	missense variant	-	NC_000001.11:g.103082923C>A	gnomAD
rs761765612	p.Glu52Gln	missense variant	-	NC_000001.11:g.103082925C>G	ExAC,gnomAD
rs139542185	p.Gly53Glu	missense variant	-	NC_000001.11:g.103082921C>T	ESP,ExAC,TOPMed,gnomAD
rs1230337575	p.Gly53Arg	missense variant	-	NC_000001.11:g.103082922C>T	TOPMed
NCI-TCGA novel	p.Ile54Met	missense variant	-	NC_000001.11:g.103082917T>C	NCI-TCGA
rs1226026683	p.Lys56Arg	missense variant	-	NC_000001.11:g.103082912T>C	gnomAD
rs768163272	p.Thr57Ala	missense variant	-	NC_000001.11:g.103082910T>C	ExAC,gnomAD
rs748922582	p.Thr57Arg	missense variant	-	NC_000001.11:g.103082909G>C	ExAC,gnomAD
rs779635348	p.Thr58Ala	missense variant	-	NC_000001.11:g.103082907T>C	ExAC,gnomAD
rs770162224	p.Thr58Met	missense variant	-	NC_000001.11:g.103082906G>A	ExAC,TOPMed,gnomAD
RCV000519601	p.Thr58Met	missense variant	-	NC_000001.11:g.103082906G>A	ClinVar
COSM4531214	p.Gly59Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082903C>T	NCI-TCGA Cosmic
rs1044368824	p.Gly59Arg	missense variant	-	NC_000001.11:g.103082904C>T	TOPMed
NCI-TCGA novel	p.Phe60Ser	missense variant	-	NC_000001.11:g.103082900A>G	NCI-TCGA
rs1434633749	p.Phe60Leu	missense variant	-	NC_000001.11:g.103082899A>T	gnomAD
COSM6057178	p.Cys61Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103082896G>T	NCI-TCGA Cosmic
COSM4929844	p.Cys61Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082896G>C	NCI-TCGA Cosmic
rs746264058	p.Thr62Arg	missense variant	-	NC_000001.11:g.103082894G>C	ExAC,TOPMed,gnomAD
rs757797166	p.Asn63Ser	missense variant	-	NC_000001.11:g.103082891T>C	ExAC,gnomAD
COSM893181	p.Arg64Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082888C>A	NCI-TCGA Cosmic
rs1272896075	p.Arg64Lys	missense variant	-	NC_000001.11:g.103082888C>T	TOPMed,gnomAD
COSM893179	p.Lys65Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082884C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys65IlePheSerTerUnkUnk	frameshift	-	NC_000001.11:g.103082882_103082885TTCT>-	NCI-TCGA
rs928084007	p.Lys65Asn	missense variant	-	NC_000001.11:g.103082884C>G	TOPMed,gnomAD
rs200396868	p.Lys65Arg	missense variant	-	NC_000001.11:g.103082885T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ser67Tyr	missense variant	-	NC_000001.11:g.103082879G>T	NCI-TCGA
rs758610033	p.Gly69Val	missense variant	-	NC_000001.11:g.103082873C>A	ExAC,TOPMed,gnomAD
rs1244439112	p.Gly69Cys	missense variant	-	NC_000001.11:g.103082874C>A	TOPMed,gnomAD
rs1244439112	p.Gly69Ser	missense variant	-	NC_000001.11:g.103082874C>T	TOPMed,gnomAD
rs755917103	p.Asp71Val	missense variant	-	NC_000001.11:g.103082867T>A	ExAC,TOPMed,gnomAD
RCV000329141	p.Thr72Ser	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103082864G>C	ClinVar
RCV000269415	p.Thr72Ser	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103082864G>C	ClinVar
RCV000363932	p.Thr72Ser	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103082864G>C	ClinVar
rs56230601	p.Thr72Ser	missense variant	-	NC_000001.11:g.103082864G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr74His	missense variant	-	NC_000001.11:g.103082859A>G	NCI-TCGA
COSM5930476	p.Arg75Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082855C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg75Ter	stop gained	-	NC_000001.11:g.103082856T>A	NCI-TCGA
rs774327003	p.Val76Leu	missense variant	-	NC_000001.11:g.103082853C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln81Lys	missense variant	-	NC_000001.11:g.103082838G>T	NCI-TCGA
COSM6120232	p.Ser83Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103082830A>T	NCI-TCGA Cosmic
rs1290800296	p.Ala84Val	missense variant	-	NC_000001.11:g.103082828G>A	gnomAD
rs775183408	p.Pro85Thr	missense variant	-	NC_000001.11:g.103082826G>T	ExAC,gnomAD
rs1302541426	p.Gln88Leu	missense variant	-	NC_000001.11:g.103082816T>A	gnomAD
rs776794060	p.Gln88His	missense variant	-	NC_000001.11:g.103082815C>G	ExAC,gnomAD
rs745563977	p.Gln88Glu	missense variant	-	NC_000001.11:g.103082817G>C	ExAC
NCI-TCGA novel	p.Leu89Ter	stop gained	-	NC_000001.11:g.103082813A>C	NCI-TCGA
rs373790561	p.Phe90Leu	missense variant	-	NC_000001.11:g.103082811A>G	ESP,ExAC,TOPMed,gnomAD
rs986681092	p.Phe90Tyr	missense variant	-	NC_000001.11:g.103082810A>T	TOPMed,gnomAD
rs373790561	p.Phe90Ile	missense variant	-	NC_000001.11:g.103082811A>T	ESP,ExAC,TOPMed,gnomAD
rs747506988	p.Pro91Ser	missense variant	-	NC_000001.11:g.103082808G>A	NCI-TCGA
rs747506988	p.Pro91Ser	missense variant	-	NC_000001.11:g.103082808G>A	ExAC,TOPMed,gnomAD
rs1372284079	p.Gly92Val	missense variant	-	NC_000001.11:g.103078871C>A	TOPMed
NCI-TCGA novel	p.Gly93Arg	missense variant	-	NC_000001.11:g.103078869C>T	NCI-TCGA
rs780290869	p.Thr94Ala	missense variant	-	NC_000001.11:g.103078866T>C	ExAC,gnomAD
rs1283924469	p.Thr94Ile	missense variant	-	NC_000001.11:g.103078865G>A	TOPMed,gnomAD
rs1283924469	p.Thr94Ser	missense variant	-	NC_000001.11:g.103078865G>C	TOPMed,gnomAD
rs757021843	p.Pro96Leu	missense variant	-	NC_000001.11:g.103078859G>A	ExAC,gnomAD
rs751303776	p.Ile101Val	missense variant	-	NC_000001.11:g.103078845T>C	ExAC,gnomAD
COSM6120234	p.Thr104Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078835G>C	NCI-TCGA Cosmic
rs1324002400	p.Thr104Lys	missense variant	-	NC_000001.11:g.103078835G>T	gnomAD
rs1284742042	p.Val105Ile	missense variant	-	NC_000001.11:g.103078833C>T	gnomAD
rs1407636928	p.Val105Glu	missense variant	-	NC_000001.11:g.103078832A>T	gnomAD
COSM3470527	p.Pro107Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078826G>A	NCI-TCGA Cosmic
rs1298293526	p.Pro107Ser	missense variant	-	NC_000001.11:g.103078827G>A	gnomAD
rs1298293526	p.Pro107Thr	missense variant	-	NC_000001.11:g.103078827G>T	gnomAD
rs1443536213	p.Pro107Gln	missense variant	-	NC_000001.11:g.103078826G>T	gnomAD
rs1173736609	p.Lys108Arg	missense variant	-	NC_000001.11:g.103078823T>C	gnomAD
rs752692524	p.Lys108Glu	missense variant	-	NC_000001.11:g.103078824T>C	ExAC,gnomAD
COSM1332170	p.Gly110GluPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103078819T>-	NCI-TCGA Cosmic
RCV000430222	p.Gly110Arg	missense variant	-	NC_000001.11:g.103078818C>G	ClinVar
RCV000659306	p.Gly110Arg	missense variant	Connective tissue disorder	NC_000001.11:g.103078818C>T	ClinVar
rs141978499	p.Gly110Arg	missense variant	-	NC_000001.11:g.103078818C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly110ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.103078818_103078819insT	NCI-TCGA
rs1471161554	p.Gly110Val	missense variant	-	NC_000001.11:g.103078817C>A	gnomAD
rs141978499	p.Gly110Arg	missense variant	-	NC_000001.11:g.103078818C>G	ESP,ExAC,TOPMed,gnomAD
rs141978499	p.Gly110Ter	stop gained	-	NC_000001.11:g.103078818C>A	ESP,ExAC,TOPMed,gnomAD
rs141978499	p.Gly110Arg	missense variant	-	NC_000001.11:g.103078818C>T	ESP,ExAC,TOPMed,gnomAD
rs759153754	p.Ile111Phe	missense variant	-	NC_000001.11:g.103078815T>A	ExAC,TOPMed,gnomAD
rs753510370	p.Ser113Phe	missense variant	-	NC_000001.11:g.103078808G>A	ExAC,gnomAD
COSM5087748	p.Leu115His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078802A>T	NCI-TCGA Cosmic
rs760427659	p.Leu116Ile	missense variant	-	NC_000001.11:g.103078800A>T	ExAC,gnomAD
rs143396707	p.Ser117Cys	missense variant	-	NC_000001.11:g.103078796G>C	ESP,ExAC
rs202212358	p.Ile118Val	missense variant	-	NC_000001.11:g.103078794T>C	1000Genomes,ExAC,gnomAD
rs944161796	p.Ile118Met	missense variant	-	NC_000001.11:g.103078792T>C	TOPMed,gnomAD
rs1261502451	p.Ile118Thr	missense variant	-	NC_000001.11:g.103078793A>G	gnomAD
rs1325493665	p.Asn120Asp	missense variant	-	NC_000001.11:g.103078788T>C	gnomAD
rs1238295283	p.Glu121Asp	missense variant	-	NC_000001.11:g.103078783C>A	TOPMed,gnomAD
rs762173332	p.Glu121Lys	missense variant	-	NC_000001.11:g.103078785C>T	ExAC,TOPMed,gnomAD
rs1469555372	p.His122Asn	missense variant	-	NC_000001.11:g.103078782G>T	gnomAD
rs1315092621	p.His122Pro	missense variant	-	NC_000001.11:g.103078781T>G	gnomAD
rs1309002302	p.Gly123Ser	missense variant	-	NC_000001.11:g.103078779C>T	NCI-TCGA Cosmic
rs1309002302	p.Gly123Ser	missense variant	-	NC_000001.11:g.103078779C>T	gnomAD
rs1391480996	p.Gly123Asp	missense variant	-	NC_000001.11:g.103078778C>T	gnomAD
rs1381314285	p.Ile124Met	missense variant	-	NC_000001.11:g.103078774A>C	gnomAD
rs774983366	p.Ile127Val	missense variant	-	NC_000001.11:g.103078767T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly128Cys	missense variant	-	NC_000001.11:g.103078764C>A	NCI-TCGA
rs768583987	p.Gly128Ser	missense variant	-	NC_000001.11:g.103078764C>T	ExAC,gnomAD
rs1407358543	p.Gly128Val	missense variant	-	NC_000001.11:g.103078763C>A	gnomAD
COSM6120236	p.Val129Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078761C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val129Gly	missense variant	-	NC_000001.11:g.103078760A>C	NCI-TCGA
rs1158320165	p.Val131Phe	missense variant	-	NC_000001.11:g.103078755C>A	NCI-TCGA Cosmic
rs1158320165	p.Val131Ile	missense variant	-	NC_000001.11:g.103078755C>T	TOPMed,gnomAD
rs1158320165	p.Val131Phe	missense variant	-	NC_000001.11:g.103078755C>A	TOPMed,gnomAD
rs749430584	p.Gly132Arg	missense variant	-	NC_000001.11:g.103078752C>T	ExAC,gnomAD
rs1366081032	p.Arg133Ser	missense variant	-	NC_000001.11:g.103078747T>G	gnomAD
rs780128263	p.Pro135Ser	missense variant	-	NC_000001.11:g.103078743G>A	ExAC,gnomAD
rs769960670	p.Phe137Ser	missense variant	-	NC_000001.11:g.103078736A>G	ExAC,TOPMed,gnomAD
rs889868652	p.Phe137Val	missense variant	-	NC_000001.11:g.103078737A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Asp141Tyr	missense variant	-	NC_000001.11:g.103078725C>A	NCI-TCGA
rs1430449624	p.Asp141Gly	missense variant	-	NC_000001.11:g.103078724T>C	TOPMed,gnomAD
COSM6120240	p.His142Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078722G>C	NCI-TCGA Cosmic
COSM6057182	p.His142Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078720G>T	NCI-TCGA Cosmic
rs1170326576	p.His142Asn	missense variant	-	NC_000001.11:g.103078722G>T	TOPMed
rs758270590	p.Gly144Glu	missense variant	-	NC_000001.11:g.103078715C>T	ExAC,gnomAD
rs543199135	p.Pro146Leu	missense variant	-	NC_000001.11:g.103078709G>A	NCI-TCGA
rs543199135	p.Pro146Leu	missense variant	-	NC_000001.11:g.103078709G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1262422034	p.Ala147Val	missense variant	-	NC_000001.11:g.103078706G>A	gnomAD
rs1349413659	p.Pro148Gln	missense variant	-	NC_000001.11:g.103078703G>T	TOPMed
rs1322123798	p.Pro148Ala	missense variant	-	NC_000001.11:g.103078704G>C	TOPMed
NCI-TCGA novel	p.Asp150Tyr	missense variant	-	NC_000001.11:g.103078698C>A	NCI-TCGA
rs754424269	p.Tyr151Cys	missense variant	-	NC_000001.11:g.103078694T>C	ExAC,gnomAD
rs1247765315	p.Pro152Arg	missense variant	-	NC_000001.11:g.103078691G>C	gnomAD
rs1312249178	p.Pro152Thr	missense variant	-	NC_000001.11:g.103078692G>T	gnomAD
rs760340111	p.Leu153Arg	missense variant	-	NC_000001.11:g.103078688A>C	ExAC,gnomAD
rs766020105	p.Leu153Phe	missense variant	-	NC_000001.11:g.103078689G>A	ExAC,gnomAD
rs1290031569	p.Phe154Cys	missense variant	-	NC_000001.11:g.103078685A>C	gnomAD
NCI-TCGA novel	p.Arg155Gly	missense variant	-	NC_000001.11:g.103078683T>C	NCI-TCGA
COSM1127509	p.Thr156Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103078679G>A	NCI-TCGA Cosmic
rs774693614	p.Ile159Val	missense variant	-	NC_000001.11:g.103078671T>C	ExAC,TOPMed,gnomAD
rs774693614	p.Ile159Leu	missense variant	-	NC_000001.11:g.103078671T>G	ExAC,TOPMed,gnomAD
rs146954848	p.Ala160Thr	missense variant	-	NC_000001.11:g.103078668C>T	NCI-TCGA
rs146954848	p.Ala160Thr	missense variant	-	NC_000001.11:g.103078668C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1481571907	p.Ala160Asp	missense variant	-	NC_000001.11:g.103078667G>T	gnomAD
rs557000127	p.Asp161Glu	missense variant	-	NC_000001.11:g.103078663G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs557000127	p.Asp161Glu	missense variant	-	NC_000001.11:g.103078663G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys163SerPheSerTerUnk	frameshift	-	NC_000001.11:g.103078660C>-	NCI-TCGA
rs1445138450	p.Lys163Glu	missense variant	-	NC_000001.11:g.103078659T>C	TOPMed,gnomAD
rs1235598642	p.Lys163Met	missense variant	-	NC_000001.11:g.103078658T>A	gnomAD
NCI-TCGA novel	p.Trp164Ter	stop gained	-	NC_000001.11:g.103074777C>T	NCI-TCGA
rs749226898	p.Trp164Ser	missense variant	-	NC_000001.11:g.103074778C>G	ExAC
rs1335304175	p.Trp164Gly	missense variant	-	NC_000001.11:g.103074779A>C	gnomAD
rs142753283	p.Arg166Gln	missense variant	-	NC_000001.11:g.103074772C>T	NCI-TCGA
rs142753283	p.Arg166Gln	missense variant	-	NC_000001.11:g.103074772C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142753283	p.Arg166Leu	missense variant	-	NC_000001.11:g.103074772C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780211105	p.Arg166Trp	missense variant	-	NC_000001.11:g.103074773G>A	ExAC,TOPMed,gnomAD
rs1397511947	p.Val167Leu	missense variant	-	NC_000001.11:g.103074770C>A	TOPMed,gnomAD
rs150144437	p.Ala168Thr	missense variant	-	NC_000001.11:g.103074767C>T	1000Genomes,ESP,ExAC,gnomAD
rs150144437	p.Ala168Thr	missense variant	-	NC_000001.11:g.103074767C>T	NCI-TCGA
rs749497678	p.Ser170Arg	missense variant	-	NC_000001.11:g.103074759G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser170Asn	missense variant	-	NC_000001.11:g.103074760C>T	NCI-TCGA
NCI-TCGA novel	p.Val171Glu	missense variant	-	NC_000001.11:g.103074757A>T	NCI-TCGA
rs764504302	p.Val171Ala	missense variant	-	NC_000001.11:g.103074757A>G	ExAC,TOPMed,gnomAD
rs751182532	p.Val171Met	missense variant	-	NC_000001.11:g.103074758C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu172Asp	missense variant	-	NC_000001.11:g.103074753C>A	NCI-TCGA
NCI-TCGA novel	p.Glu172Lys	missense variant	-	NC_000001.11:g.103074755C>T	NCI-TCGA
NCI-TCGA novel	p.Lys173Asn	missense variant	-	NC_000001.11:g.103074750C>A	NCI-TCGA
rs1042498161	p.Lys173Glu	missense variant	-	NC_000001.11:g.103074752T>C	TOPMed
COSM674562	p.Lys174Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074748T>A	NCI-TCGA Cosmic
rs1363375133	p.Met178Val	missense variant	-	NC_000001.11:g.103074737T>C	gnomAD
rs758827956	p.Met178Ile	missense variant	-	NC_000001.11:g.103074735C>G	ExAC,gnomAD
rs753171168	p.Ile179Phe	missense variant	-	NC_000001.11:g.103074734T>A	ExAC,gnomAD
rs765782213	p.Val180Ile	missense variant	-	NC_000001.11:g.103074731C>T	ExAC,gnomAD
COSM1472346	p.Cys182Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074724C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys182Arg	missense variant	-	NC_000001.11:g.103074725A>G	NCI-TCGA
NCI-TCGA novel	p.Lys183Asn	missense variant	-	NC_000001.11:g.103074720C>A	NCI-TCGA
NCI-TCGA novel	p.Lys183Asn	missense variant	-	NC_000001.11:g.103074720C>G	NCI-TCGA
COSM5117291	p.Lys184Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074717C>A	NCI-TCGA Cosmic
rs184606223	p.Thr187Met	missense variant	-	NC_000001.11:g.103074709G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs184606223	p.Thr187Lys	missense variant	-	NC_000001.11:g.103074709G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201557468	p.Pro189Ser	missense variant	-	NC_000001.11:g.103074704G>A	ESP,ExAC,TOPMed,gnomAD
rs201557468	p.Pro189Thr	missense variant	-	NC_000001.11:g.103074704G>T	ESP,ExAC,TOPMed,gnomAD
COSM1688183	p.Leu190Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074701G>A	NCI-TCGA Cosmic
rs1350630820	p.Leu190Val	missense variant	-	NC_000001.11:g.103074701G>C	gnomAD
COSM3788357	p.Asp191Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074698C>T	NCI-TCGA Cosmic
rs775444430	p.Asp191Glu	missense variant	-	NC_000001.11:g.103074696A>T	ExAC,gnomAD
rs1278245714	p.Asp191His	missense variant	-	NC_000001.11:g.103074698C>G	gnomAD
rs1377655546	p.Ser193Cys	missense variant	-	NC_000001.11:g.103074692T>A	TOPMed,gnomAD
rs556608789	p.Ser193Asn	missense variant	-	NC_000001.11:g.103074691C>T	1000Genomes,ExAC,gnomAD
rs1377655546	p.Ser193Arg	missense variant	-	NC_000001.11:g.103074692T>G	TOPMed,gnomAD
rs544400795	p.Arg195Ile	missense variant	-	NC_000001.11:g.103074685C>A	1000Genomes,ExAC,gnomAD
rs1483826155	p.Ala196Thr	missense variant	-	NC_000001.11:g.103074683C>T	TOPMed
COSM3470523	p.Ile197Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074680T>A	NCI-TCGA Cosmic
rs1403685939	p.Ile197Val	missense variant	-	NC_000001.11:g.103074680T>C	gnomAD
rs1178359944	p.Val198Ile	missense variant	-	NC_000001.11:g.103074677C>T	gnomAD
NCI-TCGA novel	p.Asp199Val	missense variant	-	NC_000001.11:g.103074673T>A	NCI-TCGA
NCI-TCGA novel	p.Thr200Ala	missense variant	-	NC_000001.11:g.103074671T>C	NCI-TCGA
rs1156671073	p.Thr200Asn	missense variant	-	NC_000001.11:g.103074670G>T	TOPMed,gnomAD
rs1156671073	p.Thr200Ile	missense variant	-	NC_000001.11:g.103074670G>A	TOPMed,gnomAD
rs201647477	p.Asn201Ser	missense variant	-	NC_000001.11:g.103074667T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs770403134	p.Ile203Val	missense variant	-	NC_000001.11:g.103074662T>C	ExAC,TOPMed,gnomAD
rs199595073	p.Thr204Met	missense variant	-	NC_000001.11:g.103074658G>A	NCI-TCGA
rs199595073	p.Thr204Met	missense variant	-	NC_000001.11:g.103074658G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1211295020	p.Phe206Leu	missense variant	-	NC_000001.11:g.103074651A>C	gnomAD
COSM893169	p.Thr208Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074646G>T	NCI-TCGA Cosmic
COSM1560146	p.Arg209Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074644T>A	NCI-TCGA Cosmic
rs753011538	p.Arg209Gly	missense variant	-	NC_000001.11:g.103074644T>C	ExAC,gnomAD
rs1282777939	p.Arg209Ser	missense variant	-	NC_000001.11:g.103074642C>A	gnomAD
RCV000384258	p.Ile210Val	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103074641T>C	ClinVar
RCV000289899	p.Ile210Val	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103074641T>C	ClinVar
rs779282500	p.Ile210Val	missense variant	-	NC_000001.11:g.103074641T>C	ExAC,TOPMed,gnomAD
RCV000324984	p.Ile210Val	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103074641T>C	ClinVar
rs1354576547	p.Leu211Ser	missense variant	-	NC_000001.11:g.103074637A>G	gnomAD
rs755412012	p.Asp212Tyr	missense variant	-	NC_000001.11:g.103074635C>A	ExAC,gnomAD
rs754315991	p.Asp212Glu	missense variant	-	NC_000001.11:g.103074633A>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu213Ter	stop gained	-	NC_000001.11:g.103074632C>A	NCI-TCGA
COSM5654634	p.Glu214Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103074627T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val215Phe	missense variant	-	NC_000001.11:g.103074626C>A	NCI-TCGA
rs1171410203	p.Val215Leu	missense variant	-	NC_000001.11:g.103074626C>G	TOPMed
COSM3470521	p.Gly218Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103031244C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly218Val	missense variant	-	NC_000001.11:g.103031243C>A	NCI-TCGA
rs1478318886	p.Asp219Tyr	missense variant	-	NC_000001.11:g.103031241C>A	NCI-TCGA
rs1478318886	p.Asp219Tyr	missense variant	-	NC_000001.11:g.103031241C>A	gnomAD
rs1268801503	p.Asp219Gly	missense variant	-	NC_000001.11:g.103031240T>C	gnomAD
rs1268801503	p.Asp219Val	missense variant	-	NC_000001.11:g.103031240T>A	gnomAD
COSM6120242	p.Gln221Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103031235G>C	NCI-TCGA Cosmic
COSM3862072	p.Gln221Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103031235G>A	NCI-TCGA Cosmic
rs1231807986	p.Gln221His	missense variant	-	NC_000001.11:g.103031233C>A	TOPMed
NCI-TCGA novel	p.Leu224Ser	missense variant	-	NC_000001.11:g.103031225A>G	NCI-TCGA
rs749668126	p.Gly227Ser	missense variant	-	NC_000001.11:g.103031217C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp228Tyr	missense variant	-	NC_000001.11:g.103031214C>A	NCI-TCGA
rs746487895	p.Asp228Asn	missense variant	-	NC_000001.11:g.103031214C>T	ExAC,TOPMed,gnomAD
rs756507085	p.Pro229Ala	missense variant	-	NC_000001.11:g.103031211G>C	ExAC,gnomAD
rs1340828110	p.Ala231Val	missense variant	-	NC_000001.11:g.103031204G>A	gnomAD
RCV000287951	p.Tyr233Cys	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103031198T>C	ClinVar
RCV000403940	p.Tyr233Cys	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103031198T>C	ClinVar
RCV000347544	p.Tyr233Cys	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103031198T>C	ClinVar
rs141304474	p.Tyr233Phe	missense variant	-	NC_000001.11:g.103031198T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141304474	p.Tyr233Cys	missense variant	-	NC_000001.11:g.103031198T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp234Asn	missense variant	-	NC_000001.11:g.103031196C>T	NCI-TCGA
rs1369168022	p.Asp234Tyr	missense variant	-	NC_000001.11:g.103031196C>A	gnomAD
rs1293638003	p.Asp234Glu	missense variant	-	NC_000001.11:g.103031194G>C	gnomAD
NCI-TCGA novel	p.Tyr235Ter	stop gained	-	NC_000001.11:g.103031191G>T	NCI-TCGA
rs1461000076	p.Tyr235Ser	missense variant	-	NC_000001.11:g.103031192T>G	gnomAD
rs565405677	p.Cys236Ser	missense variant	-	NC_000001.11:g.103031190A>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu237Asp	missense variant	-	NC_000001.11:g.103031185C>G	NCI-TCGA
rs758668137	p.His238Tyr	missense variant	-	NC_000001.11:g.103031184G>A	ExAC,gnomAD
rs753536197	p.Tyr239Cys	missense variant	-	NC_000001.11:g.103031180T>C	ExAC,TOPMed,gnomAD
rs1174962553	p.Ser240Ile	missense variant	-	NC_000001.11:g.103031177C>A	gnomAD
rs1174962553	p.Ser240Ile	missense variant	-	NC_000001.11:g.103031177C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser240Gly	missense variant	-	NC_000001.11:g.103031178T>C	NCI-TCGA
rs1268624324	p.Pro241Leu	missense variant	-	NC_000001.11:g.103031174G>A	gnomAD
rs1435390186	p.Pro241Ser	missense variant	-	NC_000001.11:g.103031175G>A	gnomAD
NCI-TCGA novel	p.Asp242Asn	missense variant	-	NC_000001.11:g.103031172C>T	NCI-TCGA
COSM893167	p.Cys243Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103031168C>A	NCI-TCGA Cosmic
rs773180523	p.Ala247Val	missense variant	-	NC_000001.11:g.103031156G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro248Ala	missense variant	-	NC_000001.11:g.103031154G>C	NCI-TCGA
rs766981236	p.Pro248Ser	missense variant	-	NC_000001.11:g.103031154G>A	ExAC
rs1234822823	p.Lys249Thr	missense variant	-	NC_000001.11:g.103031150T>G	gnomAD
rs1199504042	p.Lys249Asn	missense variant	-	NC_000001.11:g.103031149C>G	TOPMed,gnomAD
rs761377174	p.Ala250Ser	missense variant	-	NC_000001.11:g.103031148C>A	ExAC,TOPMed,gnomAD
rs1221655800	p.Ala251Pro	missense variant	-	NC_000001.11:g.103031145C>G	gnomAD
NCI-TCGA novel	p.Ala251Ser	missense variant	-	NC_000001.11:g.103031145C>A	NCI-TCGA
rs1313902113	p.Gln252Glu	missense variant	-	NC_000001.11:g.103031142G>C	gnomAD
COSM1332168	p.Ala253Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103031138G>A	NCI-TCGA Cosmic
rs1373935029	p.Ala253Thr	missense variant	-	NC_000001.11:g.103031139C>T	TOPMed
rs768132080	p.Glu255Lys	missense variant	-	NC_000001.11:g.103031133C>T	ExAC,TOPMed,gnomAD
rs1045561209	p.Pro256Arg	missense variant	-	NC_000001.11:g.103031129G>C	TOPMed,gnomAD
rs1045561209	p.Pro256Leu	missense variant	-	NC_000001.11:g.103031129G>A	TOPMed,gnomAD
rs1392566303	p.Glu260Ala	missense variant	-	NC_000001.11:g.103031117T>G	TOPMed
rs747550115	p.Tyr261His	missense variant	-	NC_000001.11:g.103026332A>G	ExAC,gnomAD
rs1204523782	p.Tyr261Cys	missense variant	-	NC_000001.11:g.103026331T>C	TOPMed,gnomAD
rs777664906	p.Ala262Thr	missense variant	-	NC_000001.11:g.103026329C>T	ExAC,TOPMed,gnomAD
rs1465957578	p.Ala262Val	missense variant	-	NC_000001.11:g.103026328G>A	TOPMed
rs372319750	p.Pro263Ser	missense variant	-	NC_000001.11:g.103026326G>A	ESP,ExAC,TOPMed,gnomAD
rs372319750	p.Pro263Thr	missense variant	-	NC_000001.11:g.103026326G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu264Lys	missense variant	-	NC_000001.11:g.103026323C>T	NCI-TCGA
rs779259676	p.Glu264Gln	missense variant	-	NC_000001.11:g.103026323C>G	ExAC,gnomAD
rs780965578	p.Ile267Met	missense variant	-	NC_000001.11:g.103026312G>C	ExAC,TOPMed,gnomAD
rs544563259	p.Glu268Val	missense variant	-	NC_000001.11:g.103026310T>A	1000Genomes,ExAC,gnomAD
rs1341498364	p.Glu268Lys	missense variant	-	NC_000001.11:g.103026311C>T	gnomAD
rs1384158012	p.Asp270Glu	missense variant	-	NC_000001.11:g.103026303G>C	gnomAD
COSM1332167	p.Tyr271Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103026301T>G	NCI-TCGA Cosmic
rs1342951616	p.Tyr271Cys	missense variant	-	NC_000001.11:g.103026301T>C	gnomAD
NCI-TCGA novel	p.Glu272Asp	missense variant	-	NC_000001.11:g.103026297C>A	NCI-TCGA
rs1303095330	p.Tyr273Asn	missense variant	-	NC_000001.11:g.103026296A>T	TOPMed
rs763484552	p.Tyr273Cys	missense variant	-	NC_000001.11:g.103026295T>C	ExAC,TOPMed,gnomAD
rs139373584	p.Gly274Arg	missense variant	-	NC_000001.11:g.103026293C>T	ESP
rs762593527	p.Gly274Ala	missense variant	-	NC_000001.11:g.103026292C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu275Ter	stop gained	-	NC_000001.11:g.103026287_103026288insCAATAACTGTGATTTTTA	NCI-TCGA
NCI-TCGA novel	p.Glu275GlyPheSerTerUnk	frameshift	-	NC_000001.11:g.103026289_103026290insC	NCI-TCGA
rs752280931	p.Glu275Lys	missense variant	-	NC_000001.11:g.103026290C>T	ExAC,TOPMed,gnomAD
COSM1248741	p.Glu277Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103026284C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu277Asp	missense variant	-	NC_000001.11:g.103026282C>A	NCI-TCGA
rs1372677796	p.Tyr278His	missense variant	-	NC_000001.11:g.103026281A>G	gnomAD
rs532957604	p.Tyr278Phe	missense variant	-	NC_000001.11:g.103026280T>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu280Ter	stop gained	-	NC_000001.11:g.103026275C>A	NCI-TCGA
rs1476686839	p.Glu280Lys	missense variant	-	NC_000001.11:g.103026275C>T	gnomAD
rs777095769	p.Glu280Asp	missense variant	-	NC_000001.11:g.103026273C>A	ExAC,gnomAD
RCV000321904	p.Glu282Gly	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103026268T>C	ClinVar
RCV000280459	p.Glu282Gly	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103026268T>C	ClinVar
RCV000376489	p.Glu282Gly	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103026268T>C	ClinVar
rs199539580	p.Glu282Gly	missense variant	-	NC_000001.11:g.103026268T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761240045	p.Ser283Asn	missense variant	-	NC_000001.11:g.103026265C>T	ExAC,gnomAD
rs773807930	p.Ser283Arg	missense variant	-	NC_000001.11:g.103026264A>T	ExAC,gnomAD
rs772038407	p.Val284Leu	missense variant	-	NC_000001.11:g.103026263C>A	ExAC,gnomAD
rs1356653753	p.Thr285Arg	missense variant	-	NC_000001.11:g.103026259G>C	gnomAD
NCI-TCGA novel	p.Gly287Glu	missense variant	-	NC_000001.11:g.103026253C>T	NCI-TCGA
rs1425451978	p.Gly287Val	missense variant	-	NC_000001.11:g.103026253C>A	gnomAD
rs748315186	p.Pro288Thr	missense variant	-	NC_000001.11:g.103026251G>T	ExAC,TOPMed,gnomAD
rs1225702213	p.Thr289Ile	missense variant	-	NC_000001.11:g.103026247G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Val290Ala	missense variant	-	NC_000001.11:g.103026244A>G	NCI-TCGA
rs778869762	p.Thr291Ala	missense variant	-	NC_000001.11:g.103026242T>C	ExAC,TOPMed,gnomAD
COSM674564	p.Glu293Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103026236C>G	NCI-TCGA Cosmic
rs749538662	p.Glu293Asp	missense variant	-	NC_000001.11:g.103026234C>A	ExAC,gnomAD
COSM6057190	p.Ala296Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103026226G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln297His	missense variant	-	NC_000001.11:g.103026222C>A	NCI-TCGA
NCI-TCGA novel	p.Gln297Leu	missense variant	-	NC_000001.11:g.103026223T>A	NCI-TCGA
RCV000079909	p.Thr298Met	missense variant	-	NC_000001.11:g.103026220G>A	ClinVar
rs398123652	p.Thr298Met	missense variant	-	NC_000001.11:g.103026220G>A	ExAC,TOPMed,gnomAD
rs144966407	p.Thr298Ala	missense variant	-	NC_000001.11:g.103026221T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs112484990	p.Asn301Lys	missense variant	-	NC_000001.11:g.103025608G>T	ExAC,gnomAD
rs75824519	p.Ile302Val	missense variant	-	NC_000001.11:g.103025607T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000607480	p.Ile302Val	missense variant	-	NC_000001.11:g.103025607T>C	ClinVar
rs758803832	p.Val303Ala	missense variant	-	NC_000001.11:g.103025603A>G	ExAC,gnomAD
rs369925361	p.Val303Ile	missense variant	-	NC_000001.11:g.103025604C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748683069	p.Asp304Val	missense variant	-	NC_000001.11:g.103025600T>A	ExAC,TOPMed,gnomAD
rs748683069	p.Asp304Gly	missense variant	-	NC_000001.11:g.103025600T>C	ExAC,TOPMed,gnomAD
rs779346604	p.Asp305Tyr	missense variant	-	NC_000001.11:g.103025598C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe306Val	missense variant	-	NC_000001.11:g.103025595A>C	NCI-TCGA
NCI-TCGA novel	p.Glu308Asp	missense variant	-	NC_000001.11:g.103025587T>G	NCI-TCGA
rs753793345	p.Glu308Gly	missense variant	-	NC_000001.11:g.103025588T>C	ExAC,gnomAD
COSM4759640	p.Tyr309Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103025585T>C	NCI-TCGA Cosmic
RCV000368199	p.Tyr309Phe	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103025585T>A	ClinVar
rs766508371	p.Tyr309Phe	missense variant	-	NC_000001.11:g.103025585T>A	ExAC,gnomAD
RCV000309423	p.Tyr309Phe	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103025585T>A	ClinVar
RCV000273015	p.Tyr309Phe	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103025585T>A	ClinVar
rs201305757	p.Asn310His	missense variant	-	NC_000001.11:g.103025583T>G	1000Genomes,ExAC,gnomAD
rs763947443	p.Asn310Ser	missense variant	-	NC_000001.11:g.103025582T>C	ExAC,gnomAD
rs765019834	p.Ser316Asn	missense variant	-	NC_000001.11:g.103025564C>T	ExAC,gnomAD
rs369794634	p.Ser316Gly	missense variant	-	NC_000001.11:g.103025565T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1374215100	p.Glu320Asp	missense variant	-	NC_000001.11:g.103025551T>G	gnomAD
NCI-TCGA novel	p.Ala321Val	missense variant	-	NC_000001.11:g.103025549G>A	NCI-TCGA
RCV000179833	p.Pro322Leu	missense variant	-	NC_000001.11:g.103025546G>A	ClinVar
rs183130583	p.Pro322Leu	missense variant	-	NC_000001.11:g.103025546G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1448065580	p.Arg323Lys	missense variant	-	NC_000001.11:g.103025543C>T	gnomAD
rs770480017	p.His324Arg	missense variant	-	NC_000001.11:g.103025540T>C	ExAC,TOPMed,gnomAD
rs746633493	p.Val325Phe	missense variant	-	NC_000001.11:g.103025538C>A	ExAC,TOPMed,gnomAD
RCV000486656	p.Val325Phe	missense variant	-	NC_000001.11:g.103025538C>A	ClinVar
COSM1332164	p.Ser326Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103025534G>A	NCI-TCGA Cosmic
COSM280024	p.Gly327Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103025531C>T	NCI-TCGA Cosmic
rs772411526	p.Gly327Arg	missense variant	-	NC_000001.11:g.103025532C>T	ExAC,TOPMed,gnomAD
rs772411526	p.Gly327Trp	missense variant	-	NC_000001.11:g.103025532C>A	ExAC,TOPMed,gnomAD
rs1157354380	p.Thr328Ile	missense variant	-	NC_000001.11:g.103025528G>A	TOPMed
rs748401896	p.Asn329Ser	missense variant	-	NC_000001.11:g.103025525T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu330Ter	stop gained	-	NC_000001.11:g.103025523C>A	NCI-TCGA
rs779339225	p.Glu330Gln	missense variant	-	NC_000001.11:g.103025523C>G	ExAC,gnomAD
rs148978696	p.Pro331Gln	missense variant	-	NC_000001.11:g.103022995G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148978696	p.Pro331Leu	missense variant	-	NC_000001.11:g.103022995G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767032677	p.Pro331Thr	missense variant	-	NC_000001.11:g.103022996G>T	ExAC,TOPMed,gnomAD
rs767032677	p.Pro331Ser	missense variant	-	NC_000001.11:g.103022996G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn332Thr	missense variant	-	NC_000001.11:g.103022992T>G	NCI-TCGA
rs768894797	p.Pro333Thr	missense variant	-	NC_000001.11:g.103022990G>T	ExAC,TOPMed,gnomAD
rs768894797	p.Pro333Ala	missense variant	-	NC_000001.11:g.103022990G>C	ExAC,TOPMed,gnomAD
COSM4827531	p.Val334Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022987C>T	NCI-TCGA Cosmic
rs763322647	p.Val334Gly	missense variant	-	NC_000001.11:g.103022986A>C	ExAC,gnomAD
RCV000778931	p.Glu335Ter	nonsense	COL11A1-Related Disorders	NC_000001.11:g.103022984C>A	ClinVar
rs776004614	p.Glu335Ter	stop gained	-	NC_000001.11:g.103022984C>A	ExAC,TOPMed,gnomAD
COSM1332154	p.Glu336Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103022981C>A	NCI-TCGA Cosmic
COSM3862069	p.Glu336Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022981C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu336Gln	missense variant	-	NC_000001.11:g.103022981C>G	NCI-TCGA
rs746403396	p.Ile337Val	missense variant	-	NC_000001.11:g.103022978T>C	ExAC,TOPMed,gnomAD
rs746403396	p.Ile337Leu	missense variant	-	NC_000001.11:g.103022978T>G	ExAC,TOPMed,gnomAD
rs771083986	p.Phe338Leu	missense variant	-	NC_000001.11:g.103022973A>T	ExAC,TOPMed,gnomAD
RCV000342973	p.Glu341Gln	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103022966C>G	ClinVar
RCV000401943	p.Glu341Gln	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103022966C>G	ClinVar
RCV000302249	p.Glu341Gln	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103022966C>G	ClinVar
rs144884147	p.Glu341Gln	missense variant	-	NC_000001.11:g.103022966C>G	ESP,ExAC,TOPMed,gnomAD
rs144884147	p.Glu341Lys	missense variant	-	NC_000001.11:g.103022966C>T	ESP,ExAC,TOPMed,gnomAD
rs1257791806	p.Tyr342Cys	missense variant	-	NC_000001.11:g.103022962T>C	gnomAD
rs544289862	p.Thr344Met	missense variant	-	NC_000001.11:g.103022956G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs544289862	p.Thr344Arg	missense variant	-	NC_000001.11:g.103022956G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM674566	p.Gly345Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103022954C>A	NCI-TCGA Cosmic
rs532060501	p.Gly345Arg	missense variant	-	NC_000001.11:g.103022954C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu346Lys	missense variant	-	NC_000001.11:g.103022951C>T	NCI-TCGA
RCV000413695	p.Asp347Asn	missense variant	-	NC_000001.11:g.103022948C>T	ClinVar
rs199942159	p.Asp347Asn	missense variant	-	NC_000001.11:g.103022948C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM1332152	p.Tyr348Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022945A>C	NCI-TCGA Cosmic
rs539811607	p.Tyr348Phe	missense variant	-	NC_000001.11:g.103022944T>A	1000Genomes,ExAC,gnomAD
COSM893160	p.Asp349Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022942C>T	NCI-TCGA Cosmic
RCV000658520	p.Gln351Arg	missense variant	-	NC_000001.11:g.103022935T>C	ClinVar
rs751155680	p.Gln351Arg	missense variant	-	NC_000001.11:g.103022935T>C	ExAC,TOPMed,gnomAD
rs761451204	p.Gln351Lys	missense variant	-	NC_000001.11:g.103022936G>T	ExAC,TOPMed,gnomAD
rs763739377	p.Arg352Lys	missense variant	-	NC_000001.11:g.103022932C>T	ExAC,gnomAD
rs1402379236	p.Arg352Trp	missense variant	-	NC_000001.11:g.103022933T>A	TOPMed,gnomAD
rs572826781	p.Lys353Asn	missense variant	-	NC_000001.11:g.103022928T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs770334750	p.Asn354His	missense variant	-	NC_000001.11:g.103022927T>G	ExAC,gnomAD
rs1454471028	p.Asn354Lys	missense variant	-	NC_000001.11:g.103022925A>T	gnomAD
RCV000523042	p.Ser355Pro	missense variant	-	NC_000001.11:g.103022924A>G	ClinVar
rs141036911	p.Ser355Ala	missense variant	-	NC_000001.11:g.103022924A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141036911	p.Ser355Pro	missense variant	-	NC_000001.11:g.103022924A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777344924	p.Asp357Val	missense variant	-	NC_000001.11:g.103022917T>A	ExAC,gnomAD
rs982348012	p.Asp357Asn	missense variant	-	NC_000001.11:g.103022918C>T	TOPMed,gnomAD
rs982348012	p.Asp357Tyr	missense variant	-	NC_000001.11:g.103022918C>A	TOPMed,gnomAD
rs1259798847	p.Thr358Ile	missense variant	-	NC_000001.11:g.103022914G>A	TOPMed
rs1274389470	p.Tyr360Cys	missense variant	-	NC_000001.11:g.103022908T>C	gnomAD
COSM3470510	p.Glu361Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022906C>T	NCI-TCGA Cosmic
rs372451206	p.Glu361Gly	missense variant	-	NC_000001.11:g.103022905T>C	ESP,ExAC,TOPMed,gnomAD
rs1343007998	p.Asn362Lys	missense variant	-	NC_000001.11:g.103022901G>T	gnomAD
rs1197650713	p.Lys363Arg	missense variant	-	NC_000001.11:g.103022899T>C	TOPMed
rs1276719478	p.Lys363Glu	missense variant	-	NC_000001.11:g.103022900T>C	gnomAD
rs747054416	p.Glu364Lys	missense variant	-	NC_000001.11:g.103022897C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp366Tyr	missense variant	-	NC_000001.11:g.103022891C>A	NCI-TCGA
rs773168949	p.Asp366Asn	missense variant	-	NC_000001.11:g.103022891C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly367Arg	missense variant	-	NC_000001.11:g.103022888C>G	NCI-TCGA
rs1402186540	p.Gly367Asp	missense variant	-	NC_000001.11:g.103022887C>T	TOPMed,gnomAD
rs748391176	p.Gly367Ser	missense variant	-	NC_000001.11:g.103022888C>T	ExAC,TOPMed,gnomAD
rs1413811284	p.Asp369Val	missense variant	-	NC_000001.11:g.103022881T>A	gnomAD
rs1399933424	p.Ser370Ala	missense variant	-	NC_000001.11:g.103022879A>C	gnomAD
rs1173831707	p.Leu373Pro	missense variant	-	NC_000001.11:g.103022869A>G	gnomAD
NCI-TCGA novel	p.Gly376Glu	missense variant	-	NC_000001.11:g.103022860C>T	NCI-TCGA
rs376421641	p.Asp377Tyr	missense variant	-	NC_000001.11:g.103022858C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs938210307	p.Gly379Ser	missense variant	-	NC_000001.11:g.103022852C>T	TOPMed,gnomAD
rs372387693	p.Glu380Lys	missense variant	-	NC_000001.11:g.103022849C>T	ESP,ExAC,TOPMed,gnomAD
COSM4522786	p.Asp382Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022843C>T	NCI-TCGA Cosmic
COSM6057191	p.Asp382Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022842T>C	NCI-TCGA Cosmic
rs368746938	p.Phe383Ile	missense variant	-	NC_000001.11:g.103022840A>T	ESP,ExAC,TOPMed,gnomAD
rs763539687	p.Tyr384Asp	missense variant	-	NC_000001.11:g.103022837A>C	ExAC,gnomAD
RCV000432887	p.Glu385Asp	missense variant	-	NC_000001.11:g.103022832T>G	ClinVar
rs1057524404	p.Glu385Asp	missense variant	-	NC_000001.11:g.103022832T>G	-
rs1293073813	p.Tyr386His	missense variant	-	NC_000001.11:g.103022831A>G	TOPMed
rs758105737	p.Tyr389Cys	missense variant	-	NC_000001.11:g.103022821T>C	ExAC,gnomAD
COSM4392310	p.Tyr389His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022822A>G	NCI-TCGA Cosmic
rs139480042	p.Glu390Gly	missense variant	-	NC_000001.11:g.103022818T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1217569493	p.Pro393Leu	missense variant	-	NC_000001.11:g.103022809G>A	TOPMed
rs556692411	p.Pro393Thr	missense variant	-	NC_000001.11:g.103022810G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000282658	p.Thr394Ala	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103022807T>C	ClinVar
RCV000372323	p.Thr394Ala	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103022807T>C	ClinVar
RCV000337630	p.Thr394Ala	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103022807T>C	ClinVar
rs538837278	p.Thr394Ala	missense variant	-	NC_000001.11:g.103022807T>C	1000Genomes,ExAC,gnomAD
rs1279958827	p.Thr394Lys	missense variant	-	NC_000001.11:g.103022806G>T	gnomAD
NCI-TCGA novel	p.Ser395Cys	missense variant	-	NC_000001.11:g.103022804T>A	NCI-TCGA
rs146246643	p.Ser395Asn	missense variant	-	NC_000001.11:g.103022803C>T	ESP,ExAC,gnomAD
RCV000658261	p.Pro397Ter	frameshift	-	NC_000001.11:g.103022802dup	ClinVar
NCI-TCGA novel	p.Pro397LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.103022797G>-	NCI-TCGA
NCI-TCGA novel	p.Pro397Ser	missense variant	-	NC_000001.11:g.103022798G>A	NCI-TCGA
NCI-TCGA novel	p.Pro397Thr	missense variant	-	NC_000001.11:g.103022798G>T	NCI-TCGA
rs761114814	p.Pro397Ala	missense variant	-	NC_000001.11:g.103022798G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn398Ter	frameshift	-	NC_000001.11:g.103022796_103022797insG	NCI-TCGA
rs1245661989	p.Asn398Lys	missense variant	-	NC_000001.11:g.103022793A>T	TOPMed
COSM3788355	p.Glu400Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022789C>G	NCI-TCGA Cosmic
RCV000294393	p.Phe401Leu	missense variant	-	NC_000001.11:g.103022786A>G	ClinVar
RCV000432780	p.Phe401Ile	missense variant	-	NC_000001.11:g.103022786A>T	ClinVar
RCV000726651	p.Phe401Ile	missense variant	-	NC_000001.11:g.103022786A>T	ClinVar
rs141817156	p.Phe401Ile	missense variant	-	NC_000001.11:g.103022786A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141817156	p.Phe401Leu	missense variant	-	NC_000001.11:g.103022786A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6120244	p.Gly402Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022782C>A	NCI-TCGA Cosmic
rs1359322452	p.Gly402Arg	missense variant	-	NC_000001.11:g.103022783C>G	gnomAD
NCI-TCGA novel	p.Pro403Thr	missense variant	-	NC_000001.11:g.103022780G>T	NCI-TCGA
rs748335883	p.Gly404Asp	missense variant	-	NC_000001.11:g.103022776C>T	ExAC,gnomAD
rs1156500992	p.Gly404Ser	missense variant	-	NC_000001.11:g.103022777C>T	TOPMed,gnomAD
rs1408198066	p.Val405Leu	missense variant	-	NC_000001.11:g.103022774C>A	gnomAD
rs1164266273	p.Ala407Glu	missense variant	-	NC_000001.11:g.103022767G>T	TOPMed
rs769561146	p.Glu408Asp	missense variant	-	NC_000001.11:g.103022763T>G	ExAC,gnomAD
rs559031290	p.Thr412Ile	missense variant	-	NC_000001.11:g.103022752G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM3788353	p.Glu413Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103022750C>T	NCI-TCGA Cosmic
rs757172350	p.Glu413Asp	missense variant	-	NC_000001.11:g.103022748T>G	ExAC,TOPMed,gnomAD
rs746973105	p.Thr414Ile	missense variant	-	NC_000001.11:g.103022746G>A	ExAC,TOPMed,gnomAD
rs777310574	p.Ser415Asn	missense variant	-	NC_000001.11:g.103022743C>T	ExAC,TOPMed,gnomAD
rs1317769823	p.Ser415Cys	missense variant	-	NC_000001.11:g.103022744T>A	gnomAD
rs371490794	p.Ser415Arg	missense variant	-	NC_000001.11:g.103022742G>C	ESP,ExAC,TOPMed,gnomAD
rs371490794	p.Ser415Arg	missense variant	-	NC_000001.11:g.103022742G>T	ESP,ExAC,TOPMed,gnomAD
rs1429243291	p.His419Arg	missense variant	-	NC_000001.11:g.103021759T>C	gnomAD
COSM3399496	p.Gly420Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103021757C>A	NCI-TCGA Cosmic
rs1424505913	p.Gly420Val	missense variant	-	NC_000001.11:g.103021756C>A	gnomAD
rs763208504	p.Ala421Thr	missense variant	-	NC_000001.11:g.103021754C>T	ExAC,gnomAD
rs775644641	p.Ala421Val	missense variant	-	NC_000001.11:g.103021753G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly423Glu	missense variant	-	NC_000001.11:g.103021747C>T	NCI-TCGA
rs1437115397	p.Gly423Arg	missense variant	-	NC_000001.11:g.103021748C>T	TOPMed
rs1199511230	p.Glu424Lys	missense variant	-	NC_000001.11:g.103021745C>T	TOPMed
NCI-TCGA novel	p.Gln427His	missense variant	-	NC_000001.11:g.103021734C>A	NCI-TCGA
NCI-TCGA novel	p.Gln427Pro	missense variant	-	NC_000001.11:g.103021735T>G	NCI-TCGA
rs1479331871	p.Gln427His	missense variant	-	NC_000001.11:g.103021734C>G	TOPMed
NCI-TCGA novel	p.Gly429Ala	missense variant	-	NC_000001.11:g.103021729C>G	NCI-TCGA
NCI-TCGA novel	p.Gly429Arg	missense variant	-	NC_000001.11:g.103021730C>T	NCI-TCGA
rs541227218	p.Gly429Val	missense variant	-	NC_000001.11:g.103021729C>A	1000Genomes,ExAC,gnomAD
rs778541934	p.Pro431Gln	missense variant	-	NC_000001.11:g.103021723G>T	NCI-TCGA
rs778541934	p.Pro431Gln	missense variant	-	NC_000001.11:g.103021723G>T	ExAC,gnomAD
rs748116360	p.Pro431Ser	missense variant	-	NC_000001.11:g.103021724G>A	ExAC,gnomAD
COSM6057193	p.Ala432Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103021720G>C	NCI-TCGA Cosmic
rs1423868983	p.Val434Phe	missense variant	-	NC_000001.11:g.103021715C>A	NCI-TCGA
rs1423868983	p.Val434Phe	missense variant	-	NC_000001.11:g.103021715C>A	TOPMed
rs779627216	p.Val434Ala	missense variant	-	NC_000001.11:g.103021714A>G	ExAC,gnomAD
rs779627216	p.Val434Asp	missense variant	-	NC_000001.11:g.103021714A>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro436His	missense variant	-	NC_000001.11:g.103021708G>T	NCI-TCGA
rs1372744350	p.Pro436Ser	missense variant	-	NC_000001.11:g.103021709G>A	gnomAD
rs775067018	p.Met438Val	missense variant	-	NC_000001.11:g.103018856T>C	ExAC,gnomAD
COSM280023	p.Val440Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103018849A>C	NCI-TCGA Cosmic
rs769288910	p.Val440Ile	missense variant	-	NC_000001.11:g.103018850C>T	ExAC,gnomAD
rs1161044163	p.Val440Ala	missense variant	-	NC_000001.11:g.103018849A>G	gnomAD
COSM6057195	p.Glu441Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103018845T>A	NCI-TCGA Cosmic
rs995254814	p.Glu441Lys	missense variant	-	NC_000001.11:g.103018847C>T	NCI-TCGA Cosmic
rs995254814	p.Glu441Lys	missense variant	-	NC_000001.11:g.103018847C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly442Arg	missense variant	-	NC_000001.11:g.103018844C>T	NCI-TCGA
rs757688496	p.Pro443Leu	missense variant	-	NC_000001.11:g.103018840G>A	ExAC,gnomAD
COSM893154	p.Gly445Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103018835C>A	NCI-TCGA Cosmic
rs899354986	p.Pro446Leu	missense variant	-	NC_000001.11:g.103018831G>A	TOPMed,gnomAD
COSM5124258	p.Ala447Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103018829C>T	NCI-TCGA Cosmic
rs1215196763	p.Ala447Val	missense variant	-	NC_000001.11:g.103018828G>A	gnomAD
rs1262054654	p.Pro449Thr	missense variant	-	NC_000001.11:g.103018823G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala450Thr	missense variant	-	NC_000001.11:g.103018820C>T	NCI-TCGA
rs778826691	p.Ile452Phe	missense variant	-	NC_000001.11:g.103017879T>A	ExAC,gnomAD
COSM674576	p.Met453Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103017874C>A	NCI-TCGA Cosmic
rs755173952	p.Met453Ile	missense variant	-	NC_000001.11:g.103017874C>T	ExAC,TOPMed,gnomAD
RCV000264810	p.Met453Ile	missense variant	-	NC_000001.11:g.103017874C>T	ClinVar
NCI-TCGA novel	p.Pro455Thr	missense variant	-	NC_000001.11:g.103017870G>T	NCI-TCGA
rs1462597589	p.Pro455Ser	missense variant	-	NC_000001.11:g.103017870G>A	NCI-TCGA Cosmic
rs1462597589	p.Pro455Ser	missense variant	-	NC_000001.11:g.103017870G>A	TOPMed
rs754099465	p.Pro456Leu	missense variant	-	NC_000001.11:g.103017866G>A	ExAC,gnomAD
rs746336238	p.Gly457Asp	missense variant	-	NC_000001.11:g.103017863C>T	NCI-TCGA
rs746336238	p.Gly457Asp	missense variant	-	NC_000001.11:g.103017863C>T	-
NCI-TCGA novel	p.Leu458Ile	missense variant	-	NC_000001.11:g.103017861G>T	NCI-TCGA
rs1163371289	p.Leu458Pro	missense variant	-	NC_000001.11:g.103017860A>G	TOPMed
COSM3470508	p.Pro461Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103017852G>A	NCI-TCGA Cosmic
rs751356715	p.Thr462Ser	missense variant	-	NC_000001.11:g.103017848G>C	ExAC,TOPMed,gnomAD
rs1475867666	p.Gly463Val	missense variant	-	NC_000001.11:g.103017845C>A	gnomAD
rs1193227657	p.Pro464His	missense variant	-	NC_000001.11:g.103017842G>T	gnomAD
rs1250694021	p.Pro465Thr	missense variant	-	NC_000001.11:g.103017840G>T	TOPMed,gnomAD
rs1250694021	p.Pro465Ala	missense variant	-	NC_000001.11:g.103017840G>C	TOPMed,gnomAD
rs1250694021	p.Pro465Ser	missense variant	-	NC_000001.11:g.103017840G>A	TOPMed,gnomAD
COSM674578	p.Asp467Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103017833T>A	NCI-TCGA Cosmic
COSM893152	p.Gly469Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103017827C>T	NCI-TCGA Cosmic
rs752749747	p.Asp470His	missense variant	-	NC_000001.11:g.103017825C>G	NCI-TCGA
rs752749747	p.Asp470Asn	missense variant	-	NC_000001.11:g.103017825C>T	ExAC,TOPMed,gnomAD
rs529233816	p.Asp470Glu	missense variant	-	NC_000001.11:g.103017823A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs752749747	p.Asp470His	missense variant	-	NC_000001.11:g.103017825C>G	ExAC,TOPMed,gnomAD
rs1342033027	p.Arg471Gly	missense variant	-	NC_000001.11:g.103017822T>C	gnomAD
rs1180040869	p.Pro473Ala	missense variant	-	NC_000001.11:g.103015739G>C	gnomAD
rs1180040869	p.Pro473Thr	missense variant	-	NC_000001.11:g.103015739G>T	gnomAD
rs1440070692	p.Pro473Leu	missense variant	-	NC_000001.11:g.103015738G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Pro474GlnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.103015735G>-	NCI-TCGA
COSM6120246	p.Gly475Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103015732C>G	NCI-TCGA Cosmic
RCV000275597	p.Arg476His	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103015729C>T	ClinVar
RCV000384187	p.Arg476His	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103015729C>T	ClinVar
RCV000330638	p.Arg476His	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103015729C>T	ClinVar
rs149558726	p.Arg476His	missense variant	-	NC_000001.11:g.103015729C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756352775	p.Arg476Cys	missense variant	-	NC_000001.11:g.103015730G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly478Ala	missense variant	-	NC_000001.11:g.103015723C>G	NCI-TCGA
COSM6057199	p.Pro480Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103015717G>T	NCI-TCGA Cosmic
rs777428839	p.Pro480Ser	missense variant	-	NC_000001.11:g.103015718G>A	ExAC,gnomAD
COSM3470506	p.Gly481Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103015714C>T	NCI-TCGA Cosmic
COSM4927848	p.Ala482Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103015712C>A	NCI-TCGA Cosmic
RCV000494606	p.Ala482Thr	missense variant	-	NC_000001.11:g.103015712C>T	ClinVar
rs150428394	p.Ala482Thr	missense variant	-	NC_000001.11:g.103015712C>T	ESP,ExAC,TOPMed,gnomAD
rs536428525	p.Leu485Ile	missense variant	-	NC_000001.11:g.103015703G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1329454071	p.Pro486Ser	missense variant	-	NC_000001.11:g.103015700G>A	gnomAD
rs759501106	p.Pro486His	missense variant	-	NC_000001.11:g.103015699G>T	ExAC,gnomAD
COSM674580	p.Gly487Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103015696C>A	NCI-TCGA Cosmic
rs376520473	p.Pro488Ser	missense variant	-	NC_000001.11:g.103015694G>A	ESP,ExAC,gnomAD
rs569475666	p.Pro488Arg	missense variant	-	NC_000001.11:g.103015693G>C	1000Genomes,ExAC,gnomAD
rs1434967428	p.Met492Val	missense variant	-	NC_000001.11:g.103015682T>C	gnomAD
rs1379241829	p.Met494Ile	missense variant	-	NC_000001.11:g.103015674C>T	gnomAD
rs1157193227	p.Pro496Ala	missense variant	-	NC_000001.11:g.103015670G>C	gnomAD
rs371793829	p.Pro496Leu	missense variant	-	NC_000001.11:g.103015669G>A	ESP,ExAC,TOPMed,gnomAD
rs755704308	p.Phe497Leu	missense variant	-	NC_000001.11:g.103014592G>C	ExAC,TOPMed,gnomAD
rs545363972	p.Arg498His	missense variant	-	NC_000001.11:g.103014590C>T	NCI-TCGA
rs1186482291	p.Arg498Cys	missense variant	-	NC_000001.11:g.103014591G>A	NCI-TCGA Cosmic
rs1186482291	p.Arg498Cys	missense variant	-	NC_000001.11:g.103014591G>A	TOPMed
rs545363972	p.Arg498His	missense variant	-	NC_000001.11:g.103014590C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr499Asn	missense variant	-	NC_000001.11:g.103014588A>T	NCI-TCGA
rs147920779	p.Tyr499Ser	missense variant	-	NC_000001.11:g.103014587T>G	ESP,ExAC,gnomAD
rs1181934550	p.Gly501Ser	missense variant	-	NC_000001.11:g.103014582C>T	TOPMed
rs1212773301	p.Asp502Tyr	missense variant	-	NC_000001.11:g.103014579C>A	TOPMed,gnomAD
rs1295045136	p.Ser504Phe	missense variant	-	NC_000001.11:g.103014572G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly506Ala	missense variant	-	NC_000001.11:g.103014566C>G	NCI-TCGA
rs764601491	p.Pro507Gln	missense variant	-	NC_000001.11:g.103014563G>T	ExAC,gnomAD
RCV000659310	p.Thr508Ala	missense variant	Connective tissue disorder	NC_000001.11:g.103014561T>C	ClinVar
rs55851925	p.Thr508Ala	missense variant	-	NC_000001.11:g.103014561T>C	ESP,ExAC,TOPMed,gnomAD
rs1432496942	p.Thr508Ile	missense variant	-	NC_000001.11:g.103014560G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ile509SerPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.103014559G>-	NCI-TCGA
rs1192930581	p.Gln512Arg	missense variant	-	NC_000001.11:g.103014548T>C	gnomAD
RCV000513169	p.Glu513Gln	missense variant	-	NC_000001.11:g.103014546C>G	ClinVar
rs1288240581	p.Glu513Gln	missense variant	-	NC_000001.11:g.103014546C>G	TOPMed
rs1288240581	p.Glu513Lys	missense variant	-	NC_000001.11:g.103014546C>T	TOPMed
COSM5131019	p.Ala514Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103014543C>T	NCI-TCGA Cosmic
rs374636016	p.Ala514Val	missense variant	-	NC_000001.11:g.103014542G>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Gln515Ter	stop gained	-	NC_000001.11:g.103014540G>A	NCI-TCGA
NCI-TCGA novel	p.Gln517Glu	missense variant	-	NC_000001.11:g.103014534G>C	NCI-TCGA
rs1397407558	p.Gln517Ter	stop gained	-	NC_000001.11:g.103014534G>A	gnomAD
NCI-TCGA novel	p.Ala518Asp	missense variant	-	NC_000001.11:g.103014530G>T	NCI-TCGA
rs1479618358	p.Ala518Thr	missense variant	-	NC_000001.11:g.103014531C>T	gnomAD
COSM6057201	p.Ile519Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103014528T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu520Ile	missense variant	-	NC_000001.11:g.103014525G>T	NCI-TCGA
rs1465214842	p.Gln521His	missense variant	-	NC_000001.11:g.103014520C>A	NCI-TCGA Cosmic
rs1465214842	p.Gln521His	missense variant	-	NC_000001.11:g.103014520C>A	gnomAD
rs770438816	p.Gln521Arg	missense variant	-	NC_000001.11:g.103014521T>C	ExAC,gnomAD
rs1417430030	p.Gln522Lys	missense variant	-	NC_000001.11:g.103014519G>T	gnomAD
rs776610122	p.Ala523Asp	missense variant	-	NC_000001.11:g.103014515G>T	ExAC,gnomAD
rs148610199	p.Ala523Thr	missense variant	-	NC_000001.11:g.103014516C>T	ESP,ExAC,gnomAD
rs771139447	p.Arg524Trp	missense variant	-	NC_000001.11:g.103014513G>A	NCI-TCGA,NCI-TCGA Cosmic
rs1045481406	p.Arg524Gln	missense variant	-	NC_000001.11:g.103014512C>T	NCI-TCGA
RCV000659311	p.Arg524Gly	missense variant	Connective tissue disorder	NC_000001.11:g.103014513G>C	ClinVar
rs771139447	p.Arg524Trp	missense variant	-	NC_000001.11:g.103014513G>A	ExAC,TOPMed,gnomAD
rs1045481406	p.Arg524Gln	missense variant	-	NC_000001.11:g.103014512C>T	-
rs771139447	p.Arg524Gly	missense variant	-	NC_000001.11:g.103014513G>C	ExAC,TOPMed,gnomAD
rs1391110750	p.Ala526Thr	missense variant	-	NC_000001.11:g.103012466C>T	TOPMed,gnomAD
rs749012508	p.Ala526Val	missense variant	-	NC_000001.11:g.103012465G>A	ExAC,TOPMed,gnomAD
rs1391110750	p.Ala526Ser	missense variant	-	NC_000001.11:g.103012466C>A	TOPMed,gnomAD
rs1455455681	p.Arg528Ile	missense variant	-	NC_000001.11:g.103012459C>A	TOPMed
COSM1294635	p.Gly532Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103012448C>T	NCI-TCGA Cosmic
COSM4933947	p.Gly532Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103012448C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly532Cys	missense variant	-	NC_000001.11:g.103012448C>A	NCI-TCGA
rs1443081862	p.Pro533Leu	missense variant	-	NC_000001.11:g.103012444G>A	gnomAD
rs1374892742	p.Met534Val	missense variant	-	NC_000001.11:g.103012442T>C	gnomAD
rs1436840107	p.Thr537Pro	missense variant	-	NC_000001.11:g.103012433T>G	TOPMed,gnomAD
COSM6057203	p.Arg539Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103012426C>A	NCI-TCGA Cosmic
COSM1332145	p.Pro540Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103012424G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro542His	missense variant	-	NC_000001.11:g.103012417G>T	NCI-TCGA
rs745841296	p.Pro542Ser	missense variant	-	NC_000001.11:g.103012418G>A	ExAC,TOPMed,gnomAD
rs1323730385	p.Val543Ala	missense variant	-	NC_000001.11:g.103012414A>G	gnomAD
NCI-TCGA novel	p.Gly544Trp	missense variant	-	NC_000001.11:g.103008516C>A	NCI-TCGA
NCI-TCGA novel	p.Gly545Glu	missense variant	-	NC_000001.11:g.103008512C>T	NCI-TCGA
rs1484664885	p.Gly545Ala	missense variant	-	NC_000001.11:g.103008512C>G	TOPMed,gnomAD
rs777447423	p.Pro546Ala	missense variant	-	NC_000001.11:g.103008510G>C	ExAC,gnomAD
COSM1332143	p.Pro546LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103008511C>-	NCI-TCGA Cosmic
rs779795373	p.Pro546AlaPheSerTerUnk	frameshift	-	NC_000001.11:g.103008510_103008511insC	NCI-TCGA,NCI-TCGA Cosmic
rs758105888	p.Pro546His	missense variant	-	NC_000001.11:g.103008509G>T	ExAC,gnomAD
COSM674588	p.Gly547Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103008506C>A	NCI-TCGA Cosmic
COSM3862067	p.Ser548Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103008503G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser548Ter	stop gained	-	NC_000001.11:g.103008503G>T	NCI-TCGA
NCI-TCGA novel	p.Ser549Phe	missense variant	-	NC_000001.11:g.103008500G>A	NCI-TCGA
rs1377225041	p.Lys552Glu	missense variant	-	NC_000001.11:g.103008492T>C	TOPMed
rs1235279532	p.Glu554Lys	missense variant	-	NC_000001.11:g.103008486C>T	gnomAD
NCI-TCGA novel	p.Ser555LysPheSerTerUnk	frameshift	-	NC_000001.11:g.103008482_103008483insT	NCI-TCGA
rs149894788	p.Ser555Asn	missense variant	-	NC_000001.11:g.103008482C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp557Gly	missense variant	-	NC_000001.11:g.103008476T>C	NCI-TCGA
rs536836897	p.Asp557Glu	missense variant	-	NC_000001.11:g.103008475A>T	1000Genomes,ExAC,gnomAD
rs755359145	p.Pro558Ala	missense variant	-	NC_000001.11:g.103008474G>C	ExAC,gnomAD
rs766726398	p.Pro560Leu	missense variant	-	NC_000001.11:g.103008467G>A	ExAC,gnomAD
rs754241471	p.Pro560Ala	missense variant	-	NC_000001.11:g.103008468G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln561Lys	missense variant	-	NC_000001.11:g.103008465G>T	NCI-TCGA
rs377107722	p.Gln561Ter	stop gained	-	NC_000001.11:g.103008465G>A	ESP,ExAC,gnomAD
RCV000255656	p.Gly562Asp	missense variant	-	NC_000001.11:g.103006314C>T	ClinVar
rs886039743	p.Gly562Asp	missense variant	-	NC_000001.11:g.103006314C>T	gnomAD
NCI-TCGA novel	p.Arg564Gln	missense variant	-	NC_000001.11:g.103006308C>T	NCI-TCGA
NCI-TCGA novel	p.Arg564Ter	stop gained	-	NC_000001.11:g.103006309G>A	NCI-TCGA
rs776268452	p.Arg564Gly	missense variant	-	NC_000001.11:g.103006309G>C	ExAC,TOPMed,gnomAD
VAR_063675	p.Gly565Val	Missense	Stickler syndrome 2 (STL2) [MIM:604841]	-	UniProt
NCI-TCGA novel	p.Val566Ala	missense variant	-	NC_000001.11:g.103006302A>G	NCI-TCGA
rs1251543692	p.Val566Ile	missense variant	-	NC_000001.11:g.103006303C>T	gnomAD
rs766321454	p.Gln567Glu	missense variant	-	NC_000001.11:g.103006300G>C	ExAC,gnomAD
rs760689529	p.Pro569Leu	missense variant	-	NC_000001.11:g.103006293G>A	ExAC,gnomAD
rs1199452562	p.Pro569Ser	missense variant	-	NC_000001.11:g.103006294G>A	TOPMed
COSM6120248	p.Pro570His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103006290G>T	NCI-TCGA Cosmic
rs1194226000	p.Pro570Ser	missense variant	-	NC_000001.11:g.103006291G>A	TOPMed,gnomAD
COSM4831323	p.Pro572Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103006284G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro572Ser	missense variant	-	NC_000001.11:g.103006285G>A	NCI-TCGA
rs773342979	p.Pro572Thr	missense variant	-	NC_000001.11:g.103006285G>T	ExAC,gnomAD
rs202011565	p.Thr573Lys	missense variant	-	NC_000001.11:g.103006281G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202011565	p.Thr573Met	missense variant	-	NC_000001.11:g.103006281G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs560019202	p.Thr573Ala	missense variant	-	NC_000001.11:g.103006282T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs369731391	p.Gly574Arg	missense variant	-	NC_000001.11:g.103006279C>T	ESP,TOPMed
NCI-TCGA novel	p.Lys575Asn	missense variant	-	NC_000001.11:g.103006274T>A	NCI-TCGA
rs200177450	p.Pro576Ser	missense variant	-	NC_000001.11:g.103006273G>A	1000Genomes
COSM3470502	p.Arg579Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103006264T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg579Ser	missense variant	-	NC_000001.11:g.103006262C>A	NCI-TCGA
NCI-TCGA novel	p.Arg579GlyPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.103006264T>-	NCI-TCGA
NCI-TCGA novel	p.Gly580Cys	missense variant	-	NC_000001.11:g.103006121C>A	NCI-TCGA
rs769449348	p.Arg581His	missense variant	-	NC_000001.11:g.103006117C>T	ExAC,gnomAD
rs1373294721	p.Arg581Ser	missense variant	-	NC_000001.11:g.103006118G>T	TOPMed,gnomAD
rs769449348	p.Arg581Pro	missense variant	-	NC_000001.11:g.103006117C>G	ExAC,gnomAD
rs769449348	p.Arg581Leu	missense variant	-	NC_000001.11:g.103006117C>A	ExAC,gnomAD
rs1373294721	p.Arg581Cys	missense variant	-	NC_000001.11:g.103006118G>A	TOPMed,gnomAD
RCV000415879	p.Arg581His	missense variant	-	NC_000001.11:g.103006117C>T	ClinVar
rs746192125	p.Pro582Ser	missense variant	-	NC_000001.11:g.103006115G>A	ExAC,TOPMed,gnomAD
rs1157154380	p.Gly583Arg	missense variant	-	NC_000001.11:g.103006112C>G	gnomAD
NCI-TCGA novel	p.Asp585Asn	missense variant	-	NC_000001.11:g.103006106C>T	NCI-TCGA
rs1313376911	p.Asp585Gly	missense variant	-	NC_000001.11:g.103006105T>C	gnomAD
NCI-TCGA novel	p.Gly586Ala	missense variant	-	NC_000001.11:g.103006102C>G	NCI-TCGA
rs771320801	p.Gly586Arg	missense variant	-	NC_000001.11:g.103006103C>T	ExAC,gnomAD
rs1248011229	p.Gly586Glu	missense variant	-	NC_000001.11:g.103006102C>T	TOPMed
rs747591719	p.Gly587Arg	missense variant	-	NC_000001.11:g.103006100C>G	ExAC,gnomAD
rs1259922538	p.Pro591Thr	missense variant	-	NC_000001.11:g.103006088G>T	gnomAD
COSM1332137	p.Glu593Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103006082C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro594Thr	missense variant	-	NC_000001.11:g.103006079G>T	NCI-TCGA
rs777713953	p.Pro594Ala	missense variant	-	NC_000001.11:g.103006079G>C	ExAC,gnomAD
RCV000022494	p.Ala596Ter	frameshift	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103006076dup	ClinVar
NCI-TCGA novel	p.Ala596Ser	missense variant	-	NC_000001.11:g.103006073C>A	NCI-TCGA
rs758567291	p.Ala596Thr	missense variant	-	NC_000001.11:g.103006073C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys597Arg	missense variant	-	NC_000001.11:g.103006069T>C	NCI-TCGA
rs1213020085	p.Gly598Glu	missense variant	-	NC_000001.11:g.103005890C>T	gnomAD
COSM4020010	p.Arg600Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103005885G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg600Gly	missense variant	-	NC_000001.11:g.103005885G>C	NCI-TCGA
COSM674592	p.Gly601Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103005882C>T	NCI-TCGA Cosmic
rs1338412988	p.Asp603Asn	missense variant	-	NC_000001.11:g.103005876C>T	gnomAD
COSM3470498	p.Gly604Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103005872C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly604Ter	stop gained	-	NC_000001.11:g.103005873C>A	NCI-TCGA
NCI-TCGA novel	p.Pro606Ser	missense variant	-	NC_000001.11:g.103005867G>A	NCI-TCGA
rs534777436	p.Pro606Leu	missense variant	-	NC_000001.11:g.103005866G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly607Arg	missense variant	-	NC_000001.11:g.103005864C>G	NCI-TCGA
NCI-TCGA novel	p.Gly607Ser	missense variant	-	NC_000001.11:g.103005864C>T	NCI-TCGA
rs779153123	p.Gly607Val	missense variant	-	NC_000001.11:g.103005863C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu608Met	missense variant	-	NC_000001.11:g.103005861G>T	NCI-TCGA
rs569828207	p.Pro609Leu	missense variant	-	NC_000001.11:g.103005857G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp611Tyr	missense variant	-	NC_000001.11:g.103005852C>A	NCI-TCGA
rs780843845	p.Asp611Asn	missense variant	-	NC_000001.11:g.103005852C>T	ExAC,TOPMed,gnomAD
rs1409436282	p.Gly613Asp	missense variant	-	NC_000001.11:g.103005845C>T	gnomAD
rs1417714910	p.His614Tyr	missense variant	-	NC_000001.11:g.103005843G>A	gnomAD
rs1445066888	p.His614Arg	missense variant	-	NC_000001.11:g.103005842T>C	gnomAD
COSM3470496	p.Arg615Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103005839C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg615Met	missense variant	-	NC_000001.11:g.103005839C>A	NCI-TCGA
COSM6120250	p.Gly616Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004660C>T	NCI-TCGA Cosmic
rs1168771172	p.Gly616Ser	missense variant	-	NC_000001.11:g.103004661C>T	TOPMed
rs192313594	p.Arg618Gln	missense variant	-	NC_000001.11:g.103004654C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1206592841	p.Gly619Asp	missense variant	-	NC_000001.11:g.103004651C>T	gnomAD
rs777479105	p.Pro620Leu	missense variant	-	NC_000001.11:g.103004648G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln621Lys	missense variant	-	NC_000001.11:g.103004646G>T	NCI-TCGA
rs758303420	p.Pro623His	missense variant	-	NC_000001.11:g.103004639G>T	ExAC,gnomAD
rs1279141807	p.Pro623Ser	missense variant	-	NC_000001.11:g.103004640G>A	gnomAD
NCI-TCGA novel	p.Pro624Ala	missense variant	-	NC_000001.11:g.103004637G>C	NCI-TCGA
COSM70237	p.Gly625Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004634C>T	NCI-TCGA Cosmic
RCV000018669	p.Gly625Val	missense variant	Stickler syndrome, type 2 (STL2)	NC_000001.11:g.103004633C>A	ClinVar
rs121912943	p.Gly625Val	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.103004633C>A	UniProt,dbSNP
VAR_013583	p.Gly625Val	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.103004633C>A	UniProt
rs121912943	p.Gly625Val	missense variant	-	NC_000001.11:g.103004633C>A	-
NCI-TCGA novel	p.Pro626Leu	missense variant	-	NC_000001.11:g.103004630G>A	NCI-TCGA
rs551653403	p.Asp629Asn	missense variant	-	NC_000001.11:g.103004622C>T	ExAC,gnomAD
rs1371731461	p.Asp629Gly	missense variant	-	NC_000001.11:g.103004621T>C	gnomAD
RCV000315632	p.Met632Ile	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103004611C>T	ClinVar
RCV000354589	p.Met632Ile	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103004611C>T	ClinVar
RCV000266764	p.Met632Ile	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103004611C>T	ClinVar
NCI-TCGA novel	p.Met632Ile	missense variant	-	NC_000001.11:g.103004611C>A	NCI-TCGA
rs199835797	p.Met632Ile	missense variant	-	NC_000001.11:g.103004611C>T	ESP,ExAC,TOPMed,gnomAD
rs1410504443	p.Arg633Lys	missense variant	-	NC_000001.11:g.103004609C>T	TOPMed,gnomAD
rs1410504443	p.Arg633Met	missense variant	-	NC_000001.11:g.103004609C>A	TOPMed,gnomAD
COSM3470492	p.Gly634Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004487C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly634Ter	stop gained	-	NC_000001.11:g.103004488C>A	NCI-TCGA
COSM893144	p.Glu635Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103004485C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu635Lys	missense variant	-	NC_000001.11:g.103004485C>T	NCI-TCGA
rs368447146	p.Asp636Tyr	missense variant	-	NC_000001.11:g.103004482C>A	ESP,ExAC,TOPMed,gnomAD
rs1416550327	p.Gly637Glu	missense variant	-	NC_000001.11:g.103004478C>T	gnomAD
rs1005824320	p.Ile639Leu	missense variant	-	NC_000001.11:g.103004473T>G	TOPMed
rs1005824320	p.Ile639Val	missense variant	-	NC_000001.11:g.103004473T>C	TOPMed
COSM4020008	p.Gly640Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.103004470C>A	NCI-TCGA Cosmic
rs888296694	p.Pro641Arg	missense variant	-	NC_000001.11:g.103004466G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro641LysPheSerTerUnk	frameshift	-	NC_000001.11:g.103004466_103004467GG>-	NCI-TCGA
rs888296694	p.Pro641Gln	missense variant	-	NC_000001.11:g.103004466G>T	TOPMed,gnomAD
COSM893142	p.Arg642Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004463C>A	NCI-TCGA Cosmic
rs142506188	p.Arg642Ser	missense variant	-	NC_000001.11:g.103004462T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1332133	p.Gly643Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004461C>T	NCI-TCGA Cosmic
rs1427555518	p.Gly643Ala	missense variant	-	NC_000001.11:g.103004460C>G	TOPMed,gnomAD
COSM3862065	p.Pro645Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103004455G>A	NCI-TCGA Cosmic
rs778758741	p.Ala648Asp	missense variant	-	NC_000001.11:g.103004445G>T	ExAC,gnomAD
RCV000393400	p.Pro650Arg	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103003264G>C	ClinVar
RCV000290623	p.Pro650Arg	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103003264G>C	ClinVar
RCV000347901	p.Pro650Arg	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103003264G>C	ClinVar
rs199875795	p.Pro650Arg	missense variant	-	NC_000001.11:g.103003264G>C	ESP,ExAC,TOPMed,gnomAD
rs202080663	p.Pro650Ser	missense variant	-	NC_000001.11:g.103003265G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg651Pro	missense variant	-	NC_000001.11:g.103003261C>G	NCI-TCGA
rs763512720	p.Arg651Gln	missense variant	-	NC_000001.11:g.103003261C>T	ExAC,gnomAD
RCV000494648	p.Leu654Pro	missense variant	-	NC_000001.11:g.103003252A>G	ClinVar
rs1131691449	p.Leu654Pro	missense variant	-	NC_000001.11:g.103003252A>G	-
NCI-TCGA novel	p.Pro656Leu	missense variant	-	NC_000001.11:g.103003246G>A	NCI-TCGA
rs1376472813	p.Pro656Ser	missense variant	-	NC_000001.11:g.103003247G>A	gnomAD
rs1201613198	p.Gly658Val	missense variant	-	NC_000001.11:g.103003240C>A	gnomAD
rs765789130	p.Pro660Leu	missense variant	-	NC_000001.11:g.103003234G>A	ExAC,gnomAD
rs1377533345	p.Pro663Leu	missense variant	-	NC_000001.11:g.103003225G>A	TOPMed
rs1432891693	p.Gly664Ala	missense variant	-	NC_000001.11:g.103003222C>G	TOPMed
NCI-TCGA novel	p.Gln665SerPheSerTerUnk	frameshift	-	NC_000001.11:g.103003221C>-	NCI-TCGA
rs141812524	p.Gln665Lys	missense variant	-	NC_000001.11:g.103003220G>T	ESP,ExAC,TOPMed,gnomAD
rs373366240	p.Pro666Thr	missense variant	-	NC_000001.11:g.103003217G>T	1000Genomes,ExAC,gnomAD
rs760878512	p.Gly667Ser	missense variant	-	NC_000001.11:g.103002791C>T	ExAC,gnomAD
rs773479103	p.Met668Val	missense variant	-	NC_000001.11:g.103002788T>C	ExAC,gnomAD
rs767790003	p.Met668Thr	missense variant	-	NC_000001.11:g.103002787A>G	ExAC,TOPMed,gnomAD
rs1392705479	p.Ala669Thr	missense variant	-	NC_000001.11:g.103002785C>T	gnomAD
COSM6120256	p.Gly670Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103002781C>G	NCI-TCGA Cosmic
COSM6120254	p.Gly670Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103002781C>A	NCI-TCGA Cosmic
rs776277117	p.Val671Glu	missense variant	-	NC_000001.11:g.103002778A>T	ExAC,gnomAD
rs201602988	p.Val671Ile	missense variant	-	NC_000001.11:g.103002779C>T	ExAC,TOPMed,gnomAD
rs201602988	p.Val671Leu	missense variant	-	NC_000001.11:g.103002779C>A	ExAC,TOPMed,gnomAD
rs776277117	p.Val671Ala	missense variant	-	NC_000001.11:g.103002778A>G	ExAC,gnomAD
rs776277117	p.Val671Gly	missense variant	-	NC_000001.11:g.103002778A>C	ExAC,gnomAD
RCV000597009	p.Asp672Asn	missense variant	-	NC_000001.11:g.103002776C>T	ClinVar
rs143663917	p.Asp672Asn	missense variant	-	NC_000001.11:g.103002776C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756127132	p.Asp672Glu	missense variant	-	NC_000001.11:g.103002774A>T	ExAC
rs756127132	p.Asp672Glu	missense variant	-	NC_000001.11:g.103002774A>C	ExAC
rs755412439	p.Asp672Val	missense variant	-	NC_000001.11:g.103002775T>A	ExAC,gnomAD
rs143663917	p.Asp672Tyr	missense variant	-	NC_000001.11:g.103002776C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755412439	p.Asp672Gly	missense variant	-	NC_000001.11:g.103002775T>C	ExAC,gnomAD
rs762115241	p.Gly673Ser	missense variant	-	NC_000001.11:g.103002773C>T	ExAC
rs765120248	p.Gly673Val	missense variant	-	NC_000001.11:g.103002772C>A	ExAC,gnomAD
rs765120248	p.Gly673Asp	missense variant	-	NC_000001.11:g.103002772C>T	ExAC,gnomAD
rs762115241	p.Gly673Cys	missense variant	-	NC_000001.11:g.103002773C>A	ExAC
rs765120248	p.Gly673Ala	missense variant	-	NC_000001.11:g.103002772C>G	ExAC,gnomAD
rs762115241	p.Gly673Arg	missense variant	-	NC_000001.11:g.103002773C>G	ExAC
RCV000378977	p.Pro674Ser	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.103002770G>A	ClinVar
RCV000278724	p.Pro674Ser	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.103002770G>A	ClinVar
RCV000317432	p.Pro674Ser	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.103002770G>A	ClinVar
rs201849355	p.Pro674Thr	missense variant	-	NC_000001.11:g.103002770G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771604834	p.Pro674His	missense variant	-	NC_000001.11:g.103002769G>T	ExAC
rs201849355	p.Pro674Ser	missense variant	-	NC_000001.11:g.103002770G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1189438796	p.Pro675Ser	missense variant	-	NC_000001.11:g.103002767G>A	TOPMed,gnomAD
rs1189438796	p.Pro675Ala	missense variant	-	NC_000001.11:g.103002767G>C	TOPMed,gnomAD
rs749663226	p.Gly676Arg	missense variant	-	NC_000001.11:g.103002764C>T	ExAC
rs1247397017	p.Pro677Gln	missense variant	-	NC_000001.11:g.103002760G>T	gnomAD
rs780468909	p.Lys678Asn	missense variant	-	NC_000001.11:g.103002756T>G	ExAC,gnomAD
rs756644221	p.Gly679Arg	missense variant	-	NC_000001.11:g.103002755C>T	ExAC
rs375314757	p.Asn680Ser	missense variant	-	NC_000001.11:g.103002751T>C	ExAC,TOPMed,gnomAD
rs750452005	p.Asn680His	missense variant	-	NC_000001.11:g.103002752T>G	ExAC,TOPMed,gnomAD
rs751867060	p.Met681Thr	missense variant	-	NC_000001.11:g.103002748A>G	ExAC,gnomAD
rs369011087	p.Gly682Ser	missense variant	-	NC_000001.11:g.103002481C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro683Ser	missense variant	-	NC_000001.11:g.103002478G>A	NCI-TCGA
rs1374336699	p.Pro683His	missense variant	-	NC_000001.11:g.103002477G>T	TOPMed
rs369536049	p.Glu686Asp	missense variant	-	NC_000001.11:g.103002467C>A	TOPMed,gnomAD
rs1451066918	p.Glu686Gln	missense variant	-	NC_000001.11:g.103002469C>G	gnomAD
rs369536049	p.Glu686Asp	missense variant	-	NC_000001.11:g.103002467C>G	TOPMed,gnomAD
rs750436769	p.Pro687Leu	missense variant	-	NC_000001.11:g.103002465G>A	ExAC,gnomAD
COSM3788351	p.Gly688Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103002463C>G	NCI-TCGA Cosmic
rs761316669	p.Gln692Lys	missense variant	-	NC_000001.11:g.103002451G>T	ExAC,gnomAD
rs573493137	p.Gln692Leu	missense variant	-	NC_000001.11:g.103002450T>A	1000Genomes,ExAC,gnomAD
COSM4876841	p.Gln693Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103002447T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly694Glu	missense variant	-	NC_000001.11:g.103002444C>T	NCI-TCGA
rs1282726061	p.Gly694Arg	missense variant	-	NC_000001.11:g.103002445C>T	gnomAD
rs1343291286	p.Pro698Thr	missense variant	-	NC_000001.11:g.103002433G>T	TOPMed,gnomAD
rs1278300568	p.Pro698Leu	missense variant	-	NC_000001.11:g.103002432G>A	gnomAD
rs775800593	p.Gln699His	missense variant	-	NC_000001.11:g.103002428C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly700Cys	missense variant	-	NC_000001.11:g.103001969C>A	NCI-TCGA
rs776884377	p.Gly700Val	missense variant	-	NC_000001.11:g.103001968C>A	ExAC,gnomAD
COSM5477367	p.Leu701Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103001966G>T	NCI-TCGA Cosmic
rs771448295	p.Leu701Phe	missense variant	-	NC_000001.11:g.103001966G>A	ExAC,gnomAD
rs866684077	p.Pro702Ser	missense variant	-	NC_000001.11:g.103001963G>A	-
rs1238365331	p.Pro702His	missense variant	-	NC_000001.11:g.103001962G>T	TOPMed,gnomAD
rs1238365331	p.Pro702Arg	missense variant	-	NC_000001.11:g.103001962G>C	TOPMed,gnomAD
rs747512885	p.Gln705Glu	missense variant	-	NC_000001.11:g.103001954G>C	ExAC,gnomAD
COSM3470484	p.Gly706Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103001951C>T	NCI-TCGA Cosmic
COSM352784	p.Pro707Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.103001948G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro707Gln	missense variant	-	NC_000001.11:g.103001947G>T	NCI-TCGA
rs1310810919	p.Ile708Thr	missense variant	-	NC_000001.11:g.103001944A>G	gnomAD
rs772339760	p.Ile708Val	missense variant	-	NC_000001.11:g.103001945T>C	ExAC,gnomAD
rs748255490	p.Gly709Cys	missense variant	-	NC_000001.11:g.103001942C>A	ExAC
rs1317627473	p.Pro710Leu	missense variant	-	NC_000001.11:g.103001938G>A	TOPMed
NCI-TCGA novel	p.Lys714Asn	missense variant	-	NC_000001.11:g.103001925T>G	NCI-TCGA
NCI-TCGA novel	p.Gly715Val	missense variant	-	NC_000001.11:g.102998362C>A	NCI-TCGA
rs1398745197	p.Gly715Ala	missense variant	-	NC_000001.11:g.102998362C>G	TOPMed
rs770689108	p.Pro716Leu	missense variant	-	NC_000001.11:g.102998359G>A	ExAC,gnomAD
rs1265360733	p.Gln717His	missense variant	-	NC_000001.11:g.102998355T>G	gnomAD
rs142524348	p.Gln717Arg	missense variant	-	NC_000001.11:g.102998356T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly718Glu	missense variant	-	NC_000001.11:g.102998353C>T	NCI-TCGA
rs777648055	p.Gly718Arg	missense variant	-	NC_000001.11:g.102998354C>T	ExAC,gnomAD
rs1204226663	p.Gly721Arg	missense variant	-	NC_000001.11:g.102998345C>G	gnomAD
rs758354863	p.Ala723Asp	missense variant	-	NC_000001.11:g.102998338G>T	ExAC,TOPMed,gnomAD
rs1326811164	p.Ala723Thr	missense variant	-	NC_000001.11:g.102998339C>T	TOPMed
NCI-TCGA novel	p.Gly724Val	missense variant	-	NC_000001.11:g.102998335C>A	NCI-TCGA
rs778328390	p.Leu725Pro	missense variant	-	NC_000001.11:g.102998332A>G	ExAC,gnomAD
rs1450257151	p.Leu725Phe	missense variant	-	NC_000001.11:g.102998333G>A	gnomAD
COSM674596	p.Gly727Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102998326C>G	NCI-TCGA Cosmic
rs1388009608	p.Gly727Arg	missense variant	-	NC_000001.11:g.102998327C>G	gnomAD
NCI-TCGA novel	p.Asp729Val	missense variant	-	NC_000001.11:g.102998320T>A	NCI-TCGA
rs754657948	p.Asp729Glu	missense variant	-	NC_000001.11:g.102998319A>T	ExAC,TOPMed,gnomAD
COSM6120258	p.Pro731Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102998314G>A	NCI-TCGA Cosmic
rs753495125	p.Pro731Ser	missense variant	-	NC_000001.11:g.102998315G>A	ExAC,TOPMed,gnomAD
rs375443900	p.Pro732Ser	missense variant	-	NC_000001.11:g.102998312G>A	ESP,ExAC,TOPMed,gnomAD
rs1473729252	p.Gly733Cys	missense variant	-	NC_000001.11:g.102997124C>A	gnomAD
rs762407046	p.Gly733Val	missense variant	-	NC_000001.11:g.102997123C>A	ExAC,gnomAD
rs752066122	p.Pro735Ala	missense variant	-	NC_000001.11:g.102997118G>C	ExAC,TOPMed,gnomAD
rs764676570	p.Gly739Ser	missense variant	-	NC_000001.11:g.102997106C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly739AlaPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.102997107T>-	NCI-TCGA
rs1205519938	p.Ser741Tyr	missense variant	-	NC_000001.11:g.102997099G>T	gnomAD
rs886044320	p.Gly742Val	missense variant	-	NC_000001.11:g.102997096C>A	gnomAD
RCV000271770	p.Gly742Ala	missense variant	-	NC_000001.11:g.102997096C>G	ClinVar
rs1458197167	p.Gly742Arg	missense variant	-	NC_000001.11:g.102997097C>G	TOPMed
rs886044320	p.Gly742Ala	missense variant	-	NC_000001.11:g.102997096C>G	gnomAD
NCI-TCGA novel	p.Glu743Gly	missense variant	-	NC_000001.11:g.102997093T>C	NCI-TCGA
rs775660447	p.Lys744Arg	missense variant	-	NC_000001.11:g.102997090T>C	ExAC,TOPMed,gnomAD
rs765354732	p.Lys744Asn	missense variant	-	NC_000001.11:g.102997089C>G	ExAC,gnomAD
COSM5660375	p.Ala746Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102997084G>T	NCI-TCGA Cosmic
rs1444287963	p.Ala746Thr	missense variant	-	NC_000001.11:g.102997085C>T	gnomAD
NCI-TCGA novel	p.Gly748ValPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.102996041C>-	NCI-TCGA
NCI-TCGA novel	p.Pro749Ser	missense variant	-	NC_000001.11:g.102996039G>A	NCI-TCGA
rs776773238	p.Pro749Leu	missense variant	-	NC_000001.11:g.102996038G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro750Leu	missense variant	-	NC_000001.11:g.102996035G>A	NCI-TCGA
rs1389530844	p.Pro750His	missense variant	-	NC_000001.11:g.102996035G>T	gnomAD
rs766589007	p.Gly751Ser	missense variant	-	NC_000001.11:g.102996033C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro752Leu	missense variant	-	NC_000001.11:g.102996029G>A	NCI-TCGA
rs1468071076	p.Pro752Ala	missense variant	-	NC_000001.11:g.102996030G>C	TOPMed
rs1248563085	p.Gln753Leu	missense variant	-	NC_000001.11:g.102996026T>A	TOPMed
rs761552834	p.Gln753Ter	stop gained	-	NC_000001.11:g.102996027G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly754Val	missense variant	-	NC_000001.11:g.102996023C>A	NCI-TCGA
rs1242196023	p.Gly754Ser	missense variant	-	NC_000001.11:g.102996024C>T	gnomAD
rs774229221	p.Pro755Leu	missense variant	-	NC_000001.11:g.102996020G>A	ExAC,gnomAD
rs1372308202	p.Ile756Thr	missense variant	-	NC_000001.11:g.102996017A>G	TOPMed
rs1190680048	p.Ile756Val	missense variant	-	NC_000001.11:g.102996018T>C	TOPMed
NCI-TCGA novel	p.Gly757Glu	missense variant	-	NC_000001.11:g.102996014C>T	NCI-TCGA
rs1164609841	p.Tyr758Cys	missense variant	-	NC_000001.11:g.102996011T>C	TOPMed
rs768459353	p.Tyr758Ter	stop gained	-	NC_000001.11:g.102996010G>T	ExAC,gnomAD
rs749290763	p.Pro759Leu	missense variant	-	NC_000001.11:g.102996008G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly760Ser	missense variant	-	NC_000001.11:g.102996006C>T	NCI-TCGA
COSM3470482	p.Pro761Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102996002G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro761His	missense variant	-	NC_000001.11:g.102996002G>T	NCI-TCGA
NCI-TCGA novel	p.Arg762GlyPheSerTerUnk	frameshift	-	NC_000001.11:g.102996000G>-	NCI-TCGA
rs759469788	p.Arg762Trp	missense variant	-	NC_000001.11:g.102996000G>A	NCI-TCGA,NCI-TCGA Cosmic
rs758825857	p.Arg762Leu	missense variant	-	NC_000001.11:g.102995999C>A	ExAC,TOPMed,gnomAD
rs759469788	p.Arg762Gly	missense variant	-	NC_000001.11:g.102996000G>C	ExAC,TOPMed,gnomAD
rs759469788	p.Arg762Trp	missense variant	-	NC_000001.11:g.102996000G>A	ExAC,TOPMed,gnomAD
rs758825857	p.Arg762Gln	missense variant	-	NC_000001.11:g.102995999C>T	ExAC,TOPMed,gnomAD
COSM3801085	p.Gly763Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102995996C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala767Ser	missense variant	-	NC_000001.11:g.102995905C>A	NCI-TCGA
NCI-TCGA novel	p.Ala767Gly	missense variant	-	NC_000001.11:g.102995904G>C	NCI-TCGA
rs372933541	p.Ala767Glu	missense variant	-	NC_000001.11:g.102995904G>T	NCI-TCGA,NCI-TCGA Cosmic
rs372933541	p.Ala767Val	missense variant	-	NC_000001.11:g.102995904G>A	ESP,ExAC,TOPMed,gnomAD
rs372933541	p.Ala767Glu	missense variant	-	NC_000001.11:g.102995904G>T	ESP,ExAC,TOPMed,gnomAD
rs1039841585	p.Asp768Glu	missense variant	-	NC_000001.11:g.102995900A>T	TOPMed,gnomAD
COSM893138	p.Lys774Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102995883T>A	NCI-TCGA Cosmic
COSM3788349	p.Ser776Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102995877G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys777Glu	missense variant	-	NC_000001.11:g.102995875T>C	NCI-TCGA
rs1325783062	p.Lys777Gln	missense variant	-	NC_000001.11:g.102995875T>G	gnomAD
COSM1294633	p.Gly778Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102995872C>A	NCI-TCGA Cosmic
COSM5163891	p.Lys780ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102995865T>-	NCI-TCGA Cosmic
rs1413563785	p.Lys780Thr	missense variant	-	NC_000001.11:g.102995865T>G	TOPMed
NCI-TCGA novel	p.Gly781Asp	missense variant	-	NC_000001.11:g.102989570C>T	NCI-TCGA
rs780097762	p.Glu782Asp	missense variant	-	NC_000001.11:g.102989566T>A	ExAC,gnomAD
rs1413530833	p.Glu782Lys	missense variant	-	NC_000001.11:g.102989568C>T	gnomAD
RCV000022496	p.Gly784Arg	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102989562C>G	ClinVar
NCI-TCGA novel	p.Gly784Cys	missense variant	-	NC_000001.11:g.102989562C>A	NCI-TCGA
rs387906611	p.Gly784Arg	missense variant	-	NC_000001.11:g.102989562C>G	-
RCV000346298	p.Gly790Asp	missense variant	-	NC_000001.11:g.102989543C>T	ClinVar
rs886044242	p.Gly790Asp	missense variant	-	NC_000001.11:g.102989543C>T	-
rs1244260470	p.Met792Arg	missense variant	-	NC_000001.11:g.102989537A>C	NCI-TCGA
rs1244260470	p.Met792Arg	missense variant	-	NC_000001.11:g.102989537A>C	gnomAD
NCI-TCGA novel	p.Lys795Ter	stop gained	-	NC_000001.11:g.102989529T>A	NCI-TCGA
rs1390463221	p.Lys795Gln	missense variant	-	NC_000001.11:g.102989529T>G	TOPMed
VAR_065904	p.Gly796Arg	Missense	Fibrochondrogenesis 1 (FBCG1) [MIM:228520]	-	UniProt
rs762668220	p.Asp797Asn	missense variant	-	NC_000001.11:g.102989523C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg798Ser	missense variant	-	NC_000001.11:g.102989518T>A	NCI-TCGA
rs1337183045	p.Arg798Thr	missense variant	-	NC_000001.11:g.102989519C>G	gnomAD
rs745911557	p.Gly799Arg	missense variant	-	NC_000001.11:g.102987740C>T	ExAC,gnomAD
rs1300929951	p.Ile804Met	missense variant	-	NC_000001.11:g.102987723A>C	gnomAD
rs1407487086	p.Ile804Thr	missense variant	-	NC_000001.11:g.102987724A>G	gnomAD
COSM674600	p.Pro806Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102987719G>A	NCI-TCGA Cosmic
rs757495447	p.Pro806Leu	missense variant	-	NC_000001.11:g.102987718G>A	NCI-TCGA,NCI-TCGA Cosmic
rs757495447	p.Pro806Leu	missense variant	-	NC_000001.11:g.102987718G>A	ExAC,gnomAD
rs367824632	p.Arg807Ser	missense variant	-	NC_000001.11:g.102987714T>A	ESP,ExAC,TOPMed,gnomAD
RCV000512879	p.Gly808Glu	missense variant	-	NC_000001.11:g.102987712C>T	ClinVar
rs778153225	p.Gly808Arg	missense variant	-	NC_000001.11:g.102987713C>T	ExAC,gnomAD
rs754751701	p.Gly808Ala	missense variant	-	NC_000001.11:g.102987712C>G	ExAC,gnomAD
rs754751701	p.Gly808Glu	missense variant	-	NC_000001.11:g.102987712C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp810Tyr	missense variant	-	NC_000001.11:g.102987707C>A	NCI-TCGA
rs1375285705	p.Asp810His	missense variant	-	NC_000001.11:g.102987707C>G	gnomAD
rs1460936812	p.Gly811Ser	missense variant	-	NC_000001.11:g.102987704C>T	TOPMed
NCI-TCGA novel	p.Pro812His	missense variant	-	NC_000001.11:g.102987700G>T	NCI-TCGA
COSM3470478	p.Gly814Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102987695C>T	NCI-TCGA Cosmic
rs1432642387	p.Pro815Ser	missense variant	-	NC_000001.11:g.102987692G>A	gnomAD
rs766287614	p.Lys816Arg	missense variant	-	NC_000001.11:g.102987688T>C	ExAC,gnomAD
rs142523692	p.Arg818Gln	missense variant	-	NC_000001.11:g.102987682C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749913678	p.Ala819Gly	missense variant	-	NC_000001.11:g.102987679G>C	NCI-TCGA
rs749913678	p.Ala819Gly	missense variant	-	NC_000001.11:g.102987679G>C	ExAC,gnomAD
rs1170275738	p.Thr822Pro	missense variant	-	NC_000001.11:g.102987671T>G	gnomAD
rs767005595	p.Thr822Asn	missense variant	-	NC_000001.11:g.102987670G>T	ExAC,TOPMed
COSM674602	p.Asp824Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102987665C>A	NCI-TCGA Cosmic
RCV000480899	p.Asp824Asn	missense variant	-	NC_000001.11:g.102987665C>T	ClinVar
rs1064796668	p.Asp824Asn	missense variant	-	NC_000001.11:g.102987665C>T	-
rs773937298	p.Pro825Ser	missense variant	-	NC_000001.11:g.102987662G>A	ExAC,gnomAD
COSM1559252	p.Pro827Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102987656G>A	NCI-TCGA Cosmic
RCV000659316	p.Pro827Leu	missense variant	Connective tissue disorder	NC_000001.11:g.102987655G>A	ClinVar
rs1252968708	p.Pro827Leu	missense variant	-	NC_000001.11:g.102987655G>A	gnomAD
NCI-TCGA novel	p.Gly829Val	missense variant	-	NC_000001.11:g.102987649C>A	NCI-TCGA
RCV000598693	p.Gly829Glu	insertion	-	NC_000001.11:g.102987651_102987652insTCT	ClinVar
COSM674604	p.Gln830Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102987647G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala831Val	missense variant	-	NC_000001.11:g.102987643G>A	NCI-TCGA
NCI-TCGA novel	p.Ala831Thr	missense variant	-	NC_000001.11:g.102987644C>T	NCI-TCGA
COSM4020006	p.Gly832Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102987640C>T	NCI-TCGA Cosmic
rs12735019	p.Gly832Ter	stop gained	-	NC_000001.11:g.102987641C>A	TOPMed,gnomAD
rs12735019	p.Gly832Arg	missense variant	-	NC_000001.11:g.102987641C>T	TOPMed,gnomAD
rs1311138776	p.Lys834Met	missense variant	-	NC_000001.11:g.102987634T>A	gnomAD
COSM6057211	p.Gly835Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102984191C>A	NCI-TCGA Cosmic
rs867124963	p.Gly835Glu	missense variant	-	NC_000001.11:g.102984190C>T	-
rs867124963	p.Gly835Glu	missense variant	-	NC_000001.11:g.102984190C>T	NCI-TCGA Cosmic
rs1319482941	p.Lys836Glu	missense variant	-	NC_000001.11:g.102984188T>C	gnomAD
COSM1248739	p.Leu837Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102984184A>C	NCI-TCGA Cosmic
COSM4020004	p.Leu837His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102984184A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu837Pro	missense variant	-	NC_000001.11:g.102984184A>G	NCI-TCGA
rs1323870209	p.Leu837Ile	missense variant	-	NC_000001.11:g.102984185G>T	gnomAD
rs372419698	p.Gly838Glu	missense variant	-	NC_000001.11:g.102984181C>T	ESP,gnomAD
NCI-TCGA novel	p.Pro843Gln	missense variant	-	NC_000001.11:g.102984166G>T	NCI-TCGA
NCI-TCGA novel	p.Pro843Thr	missense variant	-	NC_000001.11:g.102984167G>T	NCI-TCGA
NCI-TCGA novel	p.Gly844Glu	missense variant	-	NC_000001.11:g.102984163C>T	NCI-TCGA
RCV000659317	p.Pro846Leu	missense variant	Connective tissue disorder	NC_000001.11:g.102984157G>A	ClinVar
rs750390186	p.Pro846Thr	missense variant	-	NC_000001.11:g.102984158G>T	ExAC,TOPMed,gnomAD
rs1308067070	p.Pro846Leu	missense variant	-	NC_000001.11:g.102984157G>A	gnomAD
COSM3470476	p.Gly847Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102984155C>T	NCI-TCGA Cosmic
rs781206372	p.Arg848Ile	missense variant	-	NC_000001.11:g.102984151C>A	ExAC,gnomAD
rs1404518979	p.Gln849Arg	missense variant	-	NC_000001.11:g.102984148T>C	gnomAD
rs756693376	p.Gly850Val	missense variant	-	NC_000001.11:g.102984145C>A	ExAC,TOPMed,gnomAD
rs756693376	p.Gly850Ala	missense variant	-	NC_000001.11:g.102984145C>G	ExAC,TOPMed,gnomAD
rs1367668493	p.Pro851Ser	missense variant	-	NC_000001.11:g.102984143G>A	TOPMed,gnomAD
rs1271577403	p.Gly853Ser	missense variant	-	NC_000001.11:g.102979435C>T	gnomAD
rs781016402	p.Ser854Phe	missense variant	-	NC_000001.11:g.102979431G>A	ExAC,gnomAD
rs1328489908	p.Thr855Pro	missense variant	-	NC_000001.11:g.102979429T>G	TOPMed
COSM674606	p.Gly856Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102979425C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly856Glu	missense variant	-	NC_000001.11:g.102979425C>T	NCI-TCGA
NCI-TCGA novel	p.Gly856Arg	missense variant	-	NC_000001.11:g.102979426C>T	NCI-TCGA
rs770823842	p.Gly859Ala	missense variant	-	NC_000001.11:g.102979416C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly859Val	missense variant	-	NC_000001.11:g.102979416C>A	NCI-TCGA
NCI-TCGA novel	p.Gly859Trp	missense variant	-	NC_000001.11:g.102979417C>A	NCI-TCGA
RCV000177644	p.Phe860Ile	missense variant	-	NC_000001.11:g.102979414A>T	ClinVar
RCV000515040	p.Phe860Ile	missense variant	-	NC_000001.11:g.102979414A>T	ClinVar
rs141548164	p.Phe860Ile	missense variant	-	NC_000001.11:g.102979414A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1380013450	p.Pro861Ser	missense variant	-	NC_000001.11:g.102979411G>A	NCI-TCGA Cosmic
rs1380013450	p.Pro861Ser	missense variant	-	NC_000001.11:g.102979411G>A	TOPMed
NCI-TCGA novel	p.Gly862Cys	missense variant	-	NC_000001.11:g.102979408C>A	NCI-TCGA
NCI-TCGA novel	p.Gly862Val	missense variant	-	NC_000001.11:g.102979407C>A	NCI-TCGA
rs757779461	p.Asn864Lys	missense variant	-	NC_000001.11:g.102979400A>T	ExAC,gnomAD
rs1340194622	p.Asn864Ser	missense variant	-	NC_000001.11:g.102979401T>C	gnomAD
COSM6120268	p.Lys867Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102979391T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly868Ala	missense variant	-	NC_000001.11:g.102979389C>G	NCI-TCGA
COSM4020000	p.Ala869Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102979387C>A	NCI-TCGA Cosmic
rs778379327	p.Arg870Trp	missense variant	-	NC_000001.11:g.102979384G>A	ExAC,TOPMed,gnomAD
rs778379327	p.Arg870Gly	missense variant	-	NC_000001.11:g.102979384G>C	ExAC,TOPMed,gnomAD
rs367952241	p.Arg870Gln	missense variant	-	NC_000001.11:g.102979383C>T	ESP,ExAC,TOPMed,gnomAD
COSM674610	p.Val872Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102979101C>A	NCI-TCGA Cosmic
rs1253305498	p.Val872Leu	missense variant	-	NC_000001.11:g.102979101C>G	TOPMed
rs1467756967	p.Ala873Asp	missense variant	-	NC_000001.11:g.102979097G>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly874Val	missense variant	-	NC_000001.11:g.102979094C>A	NCI-TCGA
rs1407595240	p.Gly874Asp	missense variant	-	NC_000001.11:g.102979094C>T	gnomAD
rs1181587428	p.Pro876Gln	missense variant	-	NC_000001.11:g.102979088G>T	TOPMed
rs370974962	p.Pro878Arg	missense variant	-	NC_000001.11:g.102979082G>C	ESP,ExAC,TOPMed,gnomAD
rs771754817	p.Arg879Trp	missense variant	-	NC_000001.11:g.102979080G>A	TOPMed,gnomAD
rs375752532	p.Arg879Gln	missense variant	-	NC_000001.11:g.102979079C>T	ESP,ExAC,TOPMed,gnomAD
COSM674612	p.Arg882Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102979071G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg882Ser	missense variant	-	NC_000001.11:g.102979071G>T	NCI-TCGA
rs749003514	p.Arg882Cys	missense variant	-	NC_000001.11:g.102979071G>A	NCI-TCGA,NCI-TCGA Cosmic
rs749003514	p.Arg882Cys	missense variant	-	NC_000001.11:g.102979071G>A	ExAC,TOPMed,gnomAD
rs779869745	p.Arg882His	missense variant	-	NC_000001.11:g.102979070C>T	ExAC,gnomAD
rs550201657	p.Thr885Lys	missense variant	-	NC_000001.11:g.102979061G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs550201657	p.Thr885Met	missense variant	-	NC_000001.11:g.102979061G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779814887	p.Arg888Gln	missense variant	-	NC_000001.11:g.102978906C>T	ExAC,TOPMed,gnomAD
rs748815162	p.Arg888Ter	stop gained	-	NC_000001.11:g.102978907G>A	ExAC,gnomAD
rs779814887	p.Arg888Pro	missense variant	-	NC_000001.11:g.102978906C>G	ExAC,TOPMed,gnomAD
rs779814887	p.Arg888Gln	missense variant	-	NC_000001.11:g.102978906C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly889Cys	missense variant	-	NC_000001.11:g.102978904C>A	NCI-TCGA
NCI-TCGA novel	p.Arg891Ser	missense variant	-	NC_000001.11:g.102978896T>A	NCI-TCGA
NCI-TCGA novel	p.Gly892Val	missense variant	-	NC_000001.11:g.102978894C>A	NCI-TCGA
rs769596733	p.Ala893Thr	missense variant	-	NC_000001.11:g.102978892C>T	ExAC,TOPMed
rs769596733	p.Ala893Ser	missense variant	-	NC_000001.11:g.102978892C>A	ExAC,TOPMed
COSM4892621	p.Pro896Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102978883G>A	NCI-TCGA Cosmic
rs1243707789	p.Gly898Ala	missense variant	-	NC_000001.11:g.102978876C>G	gnomAD
COSM6120270	p.Pro900Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102978871G>T	NCI-TCGA Cosmic
COSM5786056	p.Pro900His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102978870G>T	NCI-TCGA Cosmic
rs1218491017	p.Pro900Leu	missense variant	-	NC_000001.11:g.102978870G>A	TOPMed
rs1479584979	p.Thr905Ser	missense variant	-	NC_000001.11:g.102978748G>C	gnomAD
COSM6120272	p.Gly908Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102978739C>A	NCI-TCGA Cosmic
rs758953085	p.Gly908Ser	missense variant	-	NC_000001.11:g.102978740C>T	ExAC,gnomAD
RCV000734465	p.Asp909Asn	missense variant	-	NC_000001.11:g.102978737C>T	ClinVar
rs779028602	p.Asp909Asn	missense variant	-	NC_000001.11:g.102978737C>T	NCI-TCGA Cosmic
rs779028602	p.Asp909Tyr	missense variant	-	NC_000001.11:g.102978737C>A	ExAC,TOPMed,gnomAD
rs779028602	p.Asp909Asn	missense variant	-	NC_000001.11:g.102978737C>T	ExAC,TOPMed,gnomAD
rs1280999450	p.Pro911Leu	missense variant	-	NC_000001.11:g.102978730G>A	gnomAD
rs192842970	p.Pro912Leu	missense variant	-	NC_000001.11:g.102978727G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly913Cys	missense variant	-	NC_000001.11:g.102978725C>A	NCI-TCGA
rs1259202618	p.Gly913Val	missense variant	-	NC_000001.11:g.102978724C>A	TOPMed
rs1241371088	p.Gly913Ser	missense variant	-	NC_000001.11:g.102978725C>T	TOPMed
NCI-TCGA novel	p.Pro914His	missense variant	-	NC_000001.11:g.102978721G>T	NCI-TCGA
rs766511805	p.Pro915Ala	missense variant	-	NC_000001.11:g.102978719G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly916Ser	missense variant	-	NC_000001.11:g.102978716C>T	NCI-TCGA
NCI-TCGA novel	p.Glu917Lys	missense variant	-	NC_000001.11:g.102978713C>T	NCI-TCGA
rs1382966537	p.Gly919Asp	missense variant	-	NC_000001.11:g.102974882C>T	TOPMed
rs751341336	p.Pro920Arg	missense variant	-	NC_000001.11:g.102974879G>C	ExAC,gnomAD
rs764047909	p.Gln921Arg	missense variant	-	NC_000001.11:g.102974876T>C	ExAC,TOPMed,gnomAD
VAR_013585	p.Gln921_Pro926del	inframe_deletion	Stickler syndrome 2 (STL2) [MIM:604841]	-	UniProt
COSM893132	p.Gly922Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102974874C>A	NCI-TCGA Cosmic
rs375398395	p.Pro923Leu	missense variant	-	NC_000001.11:g.102974870G>A	ESP,ExAC,TOPMed,gnomAD
rs375398395	p.Pro923His	missense variant	-	NC_000001.11:g.102974870G>T	ESP,ExAC,TOPMed,gnomAD
rs921127329	p.Gln924Arg	missense variant	-	NC_000001.11:g.102974867T>C	TOPMed,gnomAD
rs776051361	p.Val927Ala	missense variant	-	NC_000001.11:g.102974858A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val927Phe	missense variant	-	NC_000001.11:g.102974859C>A	NCI-TCGA
NCI-TCGA novel	p.Pro930Thr	missense variant	-	NC_000001.11:g.102974850G>T	NCI-TCGA
NCI-TCGA novel	p.Pro930His	missense variant	-	NC_000001.11:g.102974849G>T	NCI-TCGA
RCV000681784	p.Gly931Glu	missense variant	-	NC_000001.11:g.102974846C>T	ClinVar
rs1287107942	p.Pro932Arg	missense variant	-	NC_000001.11:g.102974843G>C	gnomAD
rs1263477946	p.Gly934Asp	missense variant	-	NC_000001.11:g.102974837C>T	TOPMed
COSM526988	p.Pro935Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102974835G>T	NCI-TCGA Cosmic
RCV000659318	p.Pro935His	missense variant	Connective tissue disorder	NC_000001.11:g.102974834G>T	ClinVar
rs368422725	p.Pro935His	missense variant	-	NC_000001.11:g.102974834G>T	ESP,TOPMed,gnomAD
rs368422725	p.Pro935Arg	missense variant	-	NC_000001.11:g.102974834G>C	ESP,TOPMed,gnomAD
rs1244593543	p.Pro935Ser	missense variant	-	NC_000001.11:g.102974835G>A	gnomAD
rs368422725	p.Pro935Leu	missense variant	-	NC_000001.11:g.102974834G>A	ESP,TOPMed,gnomAD
COSM6120274	p.Pro936Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102974832G>T	NCI-TCGA Cosmic
rs867506243	p.Gly937Glu	missense variant	-	NC_000001.11:g.102970271C>T	TOPMed
rs1384200293	p.Gly937Arg	missense variant	-	NC_000001.11:g.102970272C>T	TOPMed
rs780040764	p.Pro938Leu	missense variant	-	NC_000001.11:g.102970268G>A	ExAC,TOPMed,gnomAD
rs371076582	p.Pro938Ser	missense variant	-	NC_000001.11:g.102970269G>A	ESP,ExAC,gnomAD
rs780040764	p.Pro938Arg	missense variant	-	NC_000001.11:g.102970268G>C	ExAC,TOPMed,gnomAD
rs1490014591	p.Pro939Ala	missense variant	-	NC_000001.11:g.102970266G>C	gnomAD
rs1292669050	p.Pro939Arg	missense variant	-	NC_000001.11:g.102970265G>C	gnomAD
rs947892400	p.Asp942His	missense variant	-	NC_000001.11:g.102970257C>G	gnomAD
rs1323456836	p.Asp942Val	missense variant	-	NC_000001.11:g.102970256T>A	TOPMed
rs1338828664	p.Gly943Glu	missense variant	-	NC_000001.11:g.102970253C>T	TOPMed,gnomAD
rs1401774928	p.Gly946Arg	missense variant	-	NC_000001.11:g.102970245C>G	gnomAD
rs781579110	p.Pro948Ser	missense variant	-	NC_000001.11:g.102970239G>A	ExAC,gnomAD
rs1278648408	p.Arg951His	missense variant	-	NC_000001.11:g.102970229C>T	gnomAD
rs1001275411	p.Arg951Cys	missense variant	-	NC_000001.11:g.102970230G>A	TOPMed,gnomAD
COSM4019996	p.Glu953Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102970224C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Thr954Asn	missense variant	-	NC_000001.11:g.102970220G>T	NCI-TCGA
rs1347856166	p.Thr954Ile	missense variant	-	NC_000001.11:g.102970220G>A	gnomAD
COSM1294631	p.Gly955Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102965539C>T	NCI-TCGA Cosmic
COSM6057219	p.Phe956Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102965537A>T	NCI-TCGA Cosmic
COSM893130	p.Gly958Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102965531C>A	NCI-TCGA Cosmic
rs1192133331	p.Pro962Arg	missense variant	-	NC_000001.11:g.102965518G>C	TOPMed,gnomAD
rs1192133331	p.Pro962His	missense variant	-	NC_000001.11:g.102965518G>T	TOPMed,gnomAD
rs754929156	p.Pro962Thr	missense variant	-	NC_000001.11:g.102965519G>T	ExAC
COSM4899864	p.Pro963Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102965516G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly964Val	missense variant	-	NC_000001.11:g.102965512C>A	NCI-TCGA
rs1470107899	p.Pro965Ala	missense variant	-	NC_000001.11:g.102965510G>C	gnomAD
rs1470107899	p.Pro965Ser	missense variant	-	NC_000001.11:g.102965510G>A	gnomAD
rs1231644157	p.Gly966Arg	missense variant	-	NC_000001.11:g.102965507C>T	gnomAD
rs1180994816	p.Gly966Glu	missense variant	-	NC_000001.11:g.102965506C>T	gnomAD
NCI-TCGA novel	p.Gly967Ter	stop gained	-	NC_000001.11:g.102965504C>A	NCI-TCGA
NCI-TCGA novel	p.Gly967Val	missense variant	-	NC_000001.11:g.102965503C>A	NCI-TCGA
rs1321151186	p.Gly967Arg	missense variant	-	NC_000001.11:g.102965504C>T	TOPMed
rs1242544627	p.Val968Met	missense variant	-	NC_000001.11:g.102965501C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gly970Ter	stop gained	-	NC_000001.11:g.102965495C>A	NCI-TCGA
COSM1320195	p.Pro971Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102965492G>T	NCI-TCGA Cosmic
rs1202026855	p.Pro971Ser	missense variant	-	NC_000001.11:g.102965492G>A	gnomAD
NCI-TCGA novel	p.Gln972His	missense variant	-	NC_000001.11:g.102965487C>A	NCI-TCGA
COSM674618	p.Gly973Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102962760C>A	NCI-TCGA Cosmic
rs78046647	p.Pro974Gln	missense variant	-	NC_000001.11:g.102962756G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000680459	p.Pro974Gln	missense variant	Connective tissue disorder	NC_000001.11:g.102962756G>T	ClinVar
RCV000177980	p.Pro974Gln	missense variant	-	NC_000001.11:g.102962756G>T	ClinVar
RCV000332585	p.Pro974Gln	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102962756G>T	ClinVar
rs780750875	p.Pro974Ala	missense variant	-	NC_000001.11:g.102962757G>C	ExAC,TOPMed,gnomAD
rs780750875	p.Pro974Thr	missense variant	-	NC_000001.11:g.102962757G>T	ExAC,TOPMed,gnomAD
rs780750875	p.Pro974Ser	missense variant	-	NC_000001.11:g.102962757G>A	ExAC,TOPMed,gnomAD
rs751154792	p.Thr975Asn	missense variant	-	NC_000001.11:g.102962753G>T	ExAC,gnomAD
rs751154792	p.Thr975Ile	missense variant	-	NC_000001.11:g.102962753G>A	ExAC,gnomAD
RCV000018671	p.Gly976Val	missense variant	Marshall/Stickler syndrome	NC_000001.11:g.102962750C>A	ClinVar
rs763187998	p.Gly976Ser	missense variant	-	NC_000001.11:g.102962751C>T	ExAC,TOPMed,gnomAD
rs121912944	p.Gly976Val	missense variant	-	NC_000001.11:g.102962750C>A	-
rs1400659821	p.Glu977Lys	missense variant	-	NC_000001.11:g.102962748C>T	gnomAD
rs1359641823	p.Thr978Ser	missense variant	-	NC_000001.11:g.102962745T>A	TOPMed
rs1244379073	p.Ile981Thr	missense variant	-	NC_000001.11:g.102962735A>G	TOPMed
COSM4918453	p.Gly982Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962733C>T	NCI-TCGA Cosmic
rs1420908638	p.Glu983Lys	missense variant	-	NC_000001.11:g.102962730C>T	gnomAD
COSM6057221	p.Arg984Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962726C>A	NCI-TCGA Cosmic
rs147271219	p.Arg984His	missense variant	-	NC_000001.11:g.102962726C>T	ESP,TOPMed,gnomAD
rs375205348	p.Gly985Glu	missense variant	-	NC_000001.11:g.102962723C>T	ESP,ExAC,gnomAD
rs1414541088	p.Pro987His	missense variant	-	NC_000001.11:g.102962717G>T	gnomAD
rs1186160639	p.Gly988Asp	missense variant	-	NC_000001.11:g.102962714C>T	TOPMed,gnomAD
RCV000761265	p.Gly991Asp	missense variant	Stickler syndrome, type 2 (STL2)	NC_000001.11:g.102962705C>T	ClinVar
NCI-TCGA novel	p.Pro992Ala	missense variant	-	NC_000001.11:g.102962703G>C	NCI-TCGA
rs1488603346	p.Gln996Glu	missense variant	-	NC_000001.11:g.102962691G>C	gnomAD
rs772357889	p.Gly997Asp	missense variant	-	NC_000001.11:g.102962687C>T	ExAC,gnomAD
rs773263515	p.Gly997Ser	missense variant	-	NC_000001.11:g.102962688C>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro999Leu	missense variant	-	NC_000001.11:g.102962681G>A	NCI-TCGA
NCI-TCGA novel	p.Ala1001Ser	missense variant	-	NC_000001.11:g.102962676C>A	NCI-TCGA
rs1378524449	p.Ala1001Asp	missense variant	-	NC_000001.11:g.102962675G>T	TOPMed
rs1323007469	p.Ala1002Ser	missense variant	-	NC_000001.11:g.102962673C>A	gnomAD
COSM3470472	p.Gly1003Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962670C>T	NCI-TCGA Cosmic
COSM1688170	p.Gly1003Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962669C>T	NCI-TCGA Cosmic
rs371813445	p.Lys1004Arg	missense variant	-	NC_000001.11:g.102962666T>C	ESP,TOPMed,gnomAD
COSM674620	p.Glu1005Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962664C>T	NCI-TCGA Cosmic
COSM4019994	p.Glu1005Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962662T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1005Ter	stop gained	-	NC_000001.11:g.102962664C>A	NCI-TCGA
rs749012877	p.Gly1006Arg	missense variant	-	NC_000001.11:g.102962661C>G	ExAC,gnomAD
rs775398471	p.Ala1007Thr	missense variant	-	NC_000001.11:g.102962658C>T	ExAC,gnomAD
rs769721902	p.Ala1007Glu	missense variant	-	NC_000001.11:g.102962657G>T	ExAC,gnomAD
rs769721902	p.Ala1007Val	missense variant	-	NC_000001.11:g.102962657G>A	ExAC,gnomAD
rs1267946269	p.Asp1010Asn	missense variant	-	NC_000001.11:g.102962262C>T	gnomAD
rs1177879707	p.Asp1010Val	missense variant	-	NC_000001.11:g.102962261T>A	gnomAD
rs578210032	p.Pro1011Thr	missense variant	-	NC_000001.11:g.102962259G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs578210032	p.Pro1011Ser	missense variant	-	NC_000001.11:g.102962259G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM527000	p.Gly1012Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962255C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln1014Ter	stop gained	-	NC_000001.11:g.102962250G>A	NCI-TCGA
rs777407112	p.Gln1014Glu	missense variant	-	NC_000001.11:g.102962250G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly1015Ala	missense variant	-	NC_000001.11:g.102962246C>G	NCI-TCGA
rs1343845258	p.Gly1015Val	missense variant	-	NC_000001.11:g.102962246C>A	gnomAD
rs1343845258	p.Gly1015Asp	missense variant	-	NC_000001.11:g.102962246C>T	gnomAD
NCI-TCGA novel	p.Ile1016Met	missense variant	-	NC_000001.11:g.102962242G>C	NCI-TCGA
rs1235854486	p.Ile1016Asn	missense variant	-	NC_000001.11:g.102962243A>T	gnomAD
rs1254668966	p.Ile1016Val	missense variant	-	NC_000001.11:g.102962244T>C	gnomAD
COSM1688166	p.Ser1017Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962240G>A	NCI-TCGA Cosmic
rs757971705	p.Gly1018Arg	missense variant	-	NC_000001.11:g.102962238C>G	ExAC,TOPMed,gnomAD
rs757971705	p.Gly1018Arg	missense variant	-	NC_000001.11:g.102962238C>T	ExAC,TOPMed,gnomAD
COSM3862061	p.Gly1021Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962228C>T	NCI-TCGA Cosmic
rs1306947876	p.Pro1022Thr	missense variant	-	NC_000001.11:g.102962226G>T	gnomAD
NCI-TCGA novel	p.Ala1023Ser	missense variant	-	NC_000001.11:g.102962223C>A	NCI-TCGA
rs1040168773	p.Ala1023Glu	missense variant	-	NC_000001.11:g.102962222G>T	TOPMed,gnomAD
COSM3470466	p.Gly1024Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962220C>T	NCI-TCGA Cosmic
rs1379222421	p.Leu1025Ile	missense variant	-	NC_000001.11:g.102962217A>T	gnomAD
rs944650989	p.Arg1026His	missense variant	-	NC_000001.11:g.102962213C>T	gnomAD
rs377320274	p.Arg1026Cys	missense variant	-	NC_000001.11:g.102962214G>A	ESP,ExAC,TOPMed,gnomAD
VAR_063676	p.Gly1027Arg	Missense	Stickler syndrome 2 (STL2) [MIM:604841]	-	UniProt
NCI-TCGA novel	p.Phe1028Leu	missense variant	-	NC_000001.11:g.102962206G>T	NCI-TCGA
rs778713231	p.Phe1028Leu	missense variant	-	NC_000001.11:g.102962208A>G	ExAC
NCI-TCGA novel	p.Pro1029Gln	missense variant	-	NC_000001.11:g.102962204G>T	NCI-TCGA
rs754273408	p.Gly1030Ala	missense variant	-	NC_000001.11:g.102962201C>G	ExAC,gnomAD
COSM1180243	p.Gly1030Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962201C>A	NCI-TCGA Cosmic
COSM674622	p.Gly1030Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102962202C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1031Lys	missense variant	-	NC_000001.11:g.102962199C>T	NCI-TCGA
NCI-TCGA novel	p.Arg1032Ser	missense variant	-	NC_000001.11:g.102962194T>A	NCI-TCGA
rs1394533672	p.Arg1032Gly	missense variant	-	NC_000001.11:g.102962196T>C	TOPMed
rs866324545	p.Leu1034Phe	missense variant	-	NC_000001.11:g.102962190G>A	-
rs755525115	p.Gly1036Arg	missense variant	-	NC_000001.11:g.102962184C>G	TOPMed,gnomAD
rs951756351	p.Ala1037Thr	missense variant	-	NC_000001.11:g.102962181C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln1038Ter	stop gained	-	NC_000001.11:g.102962178G>A	NCI-TCGA
rs764282256	p.Gly1039Ser	missense variant	-	NC_000001.11:g.102961919C>T	ExAC,TOPMed,gnomAD
rs764282256	p.Gly1039Cys	missense variant	-	NC_000001.11:g.102961919C>A	ExAC,TOPMed,gnomAD
rs1287397345	p.Ala1040Thr	missense variant	-	NC_000001.11:g.102961916C>T	gnomAD
rs753615442	p.Ala1040Val	missense variant	-	NC_000001.11:g.102961915G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1042Ter	stop gained	-	NC_000001.11:g.102961910C>A	NCI-TCGA
NCI-TCGA novel	p.Gly1042Val	missense variant	-	NC_000001.11:g.102961909C>A	NCI-TCGA
VAR_065905	p.Gly1042Arg	Missense	Fibrochondrogenesis 1 (FBCG1) [MIM:228520]	-	UniProt
RCV000324839	p.Leu1043Pro	missense variant	-	NC_000001.11:g.102961906A>G	ClinVar
rs766137600	p.Leu1043Met	missense variant	-	NC_000001.11:g.102961907G>T	ExAC,TOPMed,gnomAD
rs886044176	p.Leu1043Pro	missense variant	-	NC_000001.11:g.102961906A>G	gnomAD
NCI-TCGA novel	p.Gly1045Glu	missense variant	-	NC_000001.11:g.102961900C>T	NCI-TCGA
rs149000575	p.Gly1045Ala	missense variant	-	NC_000001.11:g.102961900C>G	ESP,gnomAD
rs773157346	p.Gly1046Glu	missense variant	-	NC_000001.11:g.102961897C>T	ExAC,TOPMed,gnomAD
rs760387652	p.Gly1046Arg	missense variant	-	NC_000001.11:g.102961898C>T	ExAC,TOPMed,gnomAD
rs140230238	p.Glu1047Asp	missense variant	-	NC_000001.11:g.102961893T>A	ESP
rs774043430	p.Pro1052Ser	missense variant	-	NC_000001.11:g.102961880G>A	ExAC,TOPMed,gnomAD
rs1388019006	p.Pro1053Gln	missense variant	-	NC_000001.11:g.102961876G>T	gnomAD
NCI-TCGA novel	p.Gly1057Ser	missense variant	-	NC_000001.11:g.102946956C>T	NCI-TCGA
rs1419574444	p.Gly1057Ala	missense variant	-	NC_000001.11:g.102946955C>G	TOPMed,gnomAD
COSM6120278	p.Pro1059Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946949G>T	NCI-TCGA Cosmic
COSM3470462	p.Pro1059Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946949G>A	NCI-TCGA Cosmic
rs758428843	p.Pro1059Ser	missense variant	-	NC_000001.11:g.102946950G>A	ExAC,TOPMed,gnomAD
rs758428843	p.Pro1059Ala	missense variant	-	NC_000001.11:g.102946950G>C	ExAC,TOPMed,gnomAD
COSM674626	p.Gly1060Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102946947C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1060Arg	missense variant	-	NC_000001.11:g.102946947C>T	NCI-TCGA
rs1234848212	p.Arg1062His	missense variant	-	NC_000001.11:g.102946940C>T	NCI-TCGA Cosmic
rs1276582034	p.Arg1062Cys	missense variant	-	NC_000001.11:g.102946941G>A	NCI-TCGA Cosmic
rs1234848212	p.Arg1062His	missense variant	-	NC_000001.11:g.102946940C>T	TOPMed,gnomAD
rs1276582034	p.Arg1062Cys	missense variant	-	NC_000001.11:g.102946941G>A	TOPMed,gnomAD
COSM423334	p.Gly1063Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946938C>G	NCI-TCGA Cosmic
rs1337462128	p.Gly1063Arg	missense variant	-	NC_000001.11:g.102946938C>T	NCI-TCGA
rs1337462128	p.Gly1063Trp	missense variant	-	NC_000001.11:g.102946938C>A	TOPMed
rs1337462128	p.Gly1063Arg	missense variant	-	NC_000001.11:g.102946938C>T	TOPMed
COSM423332	p.Ala1065Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946932C>T	NCI-TCGA Cosmic
rs150976349	p.Ala1065Gly	missense variant	-	NC_000001.11:g.102946931G>C	ESP,ExAC,TOPMed,gnomAD
COSM6057227	p.Gly1066Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946929C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1066Asp	missense variant	-	NC_000001.11:g.102946928C>T	NCI-TCGA
NCI-TCGA novel	p.Thr1067Ile	missense variant	-	NC_000001.11:g.102946925G>A	NCI-TCGA
rs1431696534	p.Ala1068Val	missense variant	-	NC_000001.11:g.102946922G>A	TOPMed
rs1333035222	p.Gly1069Val	missense variant	-	NC_000001.11:g.102946919C>A	gnomAD
COSM268925	p.Ile1071Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946912A>C	NCI-TCGA Cosmic
rs368743921	p.Ile1071Val	missense variant	-	NC_000001.11:g.102946914T>C	ESP,ExAC,TOPMed,gnomAD
rs1174825061	p.Ile1071Thr	missense variant	-	NC_000001.11:g.102946913A>G	gnomAD
rs757133106	p.Leu1073Val	missense variant	-	NC_000001.11:g.102946908A>C	ExAC,gnomAD
rs148464130	p.Arg1076Leu	missense variant	-	NC_000001.11:g.102946898C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148464130	p.Arg1076His	missense variant	-	NC_000001.11:g.102946898C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg1076Cys	missense variant	-	NC_000001.11:g.102946899G>A	NCI-TCGA
rs148464130	p.Arg1076His	missense variant	-	NC_000001.11:g.102946898C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000382264	p.Pro1077Thr	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102946896G>T	ClinVar
RCV000291280	p.Pro1077Thr	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102946896G>T	ClinVar
RCV000343870	p.Pro1077Thr	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102946896G>T	ClinVar
rs373734529	p.Pro1077Leu	missense variant	-	NC_000001.11:g.102946895G>A	NCI-TCGA,NCI-TCGA Cosmic
rs144562769	p.Pro1077Thr	missense variant	-	NC_000001.11:g.102946896G>T	ESP,ExAC,TOPMed,gnomAD
rs373734529	p.Pro1077Leu	missense variant	-	NC_000001.11:g.102946895G>A	ESP,ExAC,TOPMed,gnomAD
COSM4600355	p.Gly1078Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946893C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1078Glu	missense variant	-	NC_000001.11:g.102946892C>T	NCI-TCGA
COSM6057229	p.Pro1079Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946890G>C	NCI-TCGA Cosmic
rs1208237338	p.Pro1079Ser	missense variant	-	NC_000001.11:g.102946890G>A	gnomAD
rs764915609	p.Gln1080His	missense variant	-	NC_000001.11:g.102946885C>G	ExAC,gnomAD
RCV000022495	p.Gly1081Arg	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102946884C>G	ClinVar
rs397514455	p.Gly1081Arg	missense variant	-	NC_000001.11:g.102946884C>G	gnomAD
rs759181090	p.Pro1083Ser	missense variant	-	NC_000001.11:g.102946878G>A	ExAC,gnomAD
COSM4019986	p.Gly1084Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946875C>T	NCI-TCGA Cosmic
rs1352895098	p.Pro1085Thr	missense variant	-	NC_000001.11:g.102946872G>T	gnomAD
rs1306515853	p.Ala1086Ser	missense variant	-	NC_000001.11:g.102946869C>A	gnomAD
rs1306515853	p.Ala1086Pro	missense variant	-	NC_000001.11:g.102946869C>G	gnomAD
NCI-TCGA novel	p.Glu1088Asp	missense variant	-	NC_000001.11:g.102946861C>A	NCI-TCGA
rs1241711974	p.Glu1088Asp	missense variant	-	NC_000001.11:g.102946861C>G	gnomAD
rs890128212	p.Glu1088Ala	missense variant	-	NC_000001.11:g.102946862T>G	TOPMed
NCI-TCGA novel	p.Gly1090Cys	missense variant	-	NC_000001.11:g.102946857C>A	NCI-TCGA
NCI-TCGA novel	p.Ala1091Val	missense variant	-	NC_000001.11:g.102946853G>A	NCI-TCGA
rs1450713198	p.Ala1091Thr	missense variant	-	NC_000001.11:g.102946854C>T	TOPMed
COSM268169	p.Pro1092Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102946850G>A	NCI-TCGA Cosmic
rs1216801624	p.Pro1092Ser	missense variant	-	NC_000001.11:g.102946851G>A	TOPMed
rs1477374848	p.Gly1093Glu	missense variant	-	NC_000001.11:g.102940433C>T	NCI-TCGA Cosmic
rs1477374848	p.Gly1093Glu	missense variant	-	NC_000001.11:g.102940433C>T	gnomAD
rs1260695073	p.Glu1094Val	missense variant	-	NC_000001.11:g.102940430T>A	gnomAD
COSM893124	p.Glu1094Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102940431C>A	NCI-TCGA Cosmic
rs761001181	p.Lys1095Glu	missense variant	-	NC_000001.11:g.102940428T>C	ExAC,TOPMed,gnomAD
rs772562171	p.Gly1096Ala	missense variant	-	NC_000001.11:g.102940424C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly1096ValPheSerTerUnkUnkUnk	frameshift	-	NC_000001.11:g.102940424C>-	NCI-TCGA
rs773606108	p.Gly1096Cys	missense variant	-	NC_000001.11:g.102940425C>A	ExAC,TOPMed,gnomAD
rs773606108	p.Gly1096Arg	missense variant	-	NC_000001.11:g.102940425C>G	ExAC,TOPMed,gnomAD
rs762283688	p.Pro1097Thr	missense variant	-	NC_000001.11:g.102940422G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly1099Val	missense variant	-	NC_000001.11:g.102940415C>A	NCI-TCGA
NCI-TCGA novel	p.Pro1100Thr	missense variant	-	NC_000001.11:g.102940413G>T	NCI-TCGA
RCV000734470	p.Ala1101Ser	missense variant	-	NC_000001.11:g.102940410C>A	ClinVar
NCI-TCGA novel	p.Ala1101Glu	missense variant	-	NC_000001.11:g.102940409G>T	NCI-TCGA
NCI-TCGA novel	p.Gly1102Ala	missense variant	-	NC_000001.11:g.102940406C>G	NCI-TCGA
rs533762144	p.Gly1102Glu	missense variant	-	NC_000001.11:g.102940406C>T	1000Genomes,ExAC,gnomAD
rs151004249	p.Arg1103Ser	missense variant	-	NC_000001.11:g.102940402T>A	1000Genomes,ExAC,gnomAD
rs1371771477	p.Asp1104Glu	missense variant	-	NC_000001.11:g.102940399A>T	TOPMed
NCI-TCGA novel	p.Gln1107Ter	stop gained	-	NC_000001.11:g.102940392G>A	NCI-TCGA
rs1011001694	p.Gln1107Glu	missense variant	-	NC_000001.11:g.102940392G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1108Val	missense variant	-	NC_000001.11:g.102940388C>A	NCI-TCGA
NCI-TCGA novel	p.Pro1109His	missense variant	-	NC_000001.11:g.102940385G>T	NCI-TCGA
rs1367481145	p.Val1110Ile	missense variant	-	NC_000001.11:g.102940383C>T	gnomAD
VAR_063677	p.Val1110_Pro1118del	inframe_deletion	Stickler syndrome 2 (STL2) [MIM:604841]	-	UniProt
rs367681877	p.Leu1112Phe	missense variant	-	NC_000001.11:g.102940377G>A	ESP,TOPMed
NCI-TCGA novel	p.Pro1113Thr	missense variant	-	NC_000001.11:g.102940374G>T	NCI-TCGA
rs746773373	p.Pro1113Leu	missense variant	-	NC_000001.11:g.102940373G>A	ExAC,gnomAD
rs746773373	p.Pro1113Gln	missense variant	-	NC_000001.11:g.102940373G>T	ExAC,gnomAD
rs958678153	p.Pro1115Leu	missense variant	-	NC_000001.11:g.102940367G>A	TOPMed,gnomAD
rs1464251137	p.Gly1117Ala	missense variant	-	NC_000001.11:g.102940361C>G	gnomAD
COSM1730714	p.Pro1118Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102940359G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1118Arg	missense variant	-	NC_000001.11:g.102940358G>C	NCI-TCGA
COSM1688156	p.Ala1119Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102940355G>A	NCI-TCGA Cosmic
rs777782226	p.Ala1119Thr	missense variant	-	NC_000001.11:g.102940356C>T	ExAC,gnomAD
RCV000301099	p.Gly1120Ser	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102940353C>T	ClinVar
RCV000262608	p.Gly1120Ser	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102940353C>T	ClinVar
RCV000353684	p.Gly1120Ser	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102940353C>T	ClinVar
RCV000493153	p.Gly1120Ser	missense variant	-	NC_000001.11:g.102940353C>T	ClinVar
rs370589018	p.Gly1120Ser	missense variant	-	NC_000001.11:g.102940353C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1121Cys	missense variant	-	NC_000001.11:g.102940349G>C	NCI-TCGA
rs868116129	p.Ser1121Phe	missense variant	-	NC_000001.11:g.102940349G>A	gnomAD
rs868116129	p.Ser1121Tyr	missense variant	-	NC_000001.11:g.102940349G>T	gnomAD
rs778937772	p.Ser1121Ala	missense variant	-	NC_000001.11:g.102940350A>C	ExAC,TOPMed,gnomAD
COSM674628	p.Pro1122His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102940346G>T	NCI-TCGA Cosmic
rs1337801284	p.Gly1123Ala	missense variant	-	NC_000001.11:g.102940343C>G	TOPMed,gnomAD
rs17127270	p.Asp1125Glu	missense variant	-	NC_000001.11:g.102940336G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs17127270	p.Asp1125Glu	missense variant	-	NC_000001.11:g.102940336G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760385978	p.Gly1126Arg	missense variant	-	NC_000001.11:g.102940335C>T	ExAC,TOPMed,gnomAD
COSM893122	p.Asp1127Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102940332C>A	NCI-TCGA Cosmic
rs368436896	p.Asp1127Gly	missense variant	-	NC_000001.11:g.102940331T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1129Cys	missense variant	-	NC_000001.11:g.102939088C>A	NCI-TCGA
rs1053714743	p.Gly1129Ser	missense variant	-	NC_000001.11:g.102939088C>T	TOPMed,gnomAD
COSM3788347	p.Glu1133Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102939076C>T	NCI-TCGA Cosmic
rs757517185	p.Glu1133Gln	missense variant	-	NC_000001.11:g.102939076C>G	ExAC,gnomAD
rs752004106	p.Pro1134Thr	missense variant	-	NC_000001.11:g.102939073G>T	ExAC,gnomAD
rs764478054	p.Pro1134Leu	missense variant	-	NC_000001.11:g.102939072G>A	ExAC,TOPMed,gnomAD
COSM462497	p.Gly1135Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102939069C>T	NCI-TCGA Cosmic
COSM6120280	p.Gly1135Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102939070C>A	NCI-TCGA Cosmic
COSM6120282	p.Ser1139Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102939057C>T	NCI-TCGA Cosmic
rs1364963653	p.Asp1142Asn	missense variant	-	NC_000001.11:g.102939049C>T	gnomAD
rs1182148061	p.Lys1143Glu	missense variant	-	NC_000001.11:g.102939046T>C	gnomAD
NCI-TCGA novel	p.Asn1146Tyr	missense variant	-	NC_000001.11:g.102939037T>A	NCI-TCGA
rs764581778	p.Pro1148Ala	missense variant	-	NC_000001.11:g.102935110G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1148Arg	missense variant	-	NC_000001.11:g.102935109G>C	NCI-TCGA
rs764581778	p.Pro1148Ser	missense variant	-	NC_000001.11:g.102935110G>A	ExAC,TOPMed,gnomAD
rs758705318	p.Pro1149Ser	missense variant	-	NC_000001.11:g.102935107G>A	ExAC,TOPMed,gnomAD
rs1354282865	p.Pro1149Leu	missense variant	-	NC_000001.11:g.102935106G>A	gnomAD
rs765858331	p.Gly1150Ser	missense variant	-	NC_000001.11:g.102935104C>T	ExAC,gnomAD
rs759663106	p.Pro1151Thr	missense variant	-	NC_000001.11:g.102935101G>T	ExAC,TOPMed,gnomAD
rs759663106	p.Pro1151Ser	missense variant	-	NC_000001.11:g.102935101G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1152Thr	missense variant	-	NC_000001.11:g.102935098G>T	NCI-TCGA
NCI-TCGA novel	p.Pro1152Leu	missense variant	-	NC_000001.11:g.102935097G>A	NCI-TCGA
NCI-TCGA novel	p.Gly1153Val	missense variant	-	NC_000001.11:g.102935094C>A	NCI-TCGA
rs776887032	p.Gly1156Glu	missense variant	-	NC_000001.11:g.102935085C>T	ExAC,gnomAD
RCV000283911	p.Val1158Ala	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102935079A>G	ClinVar
RCV000348216	p.Val1158Ala	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102935079A>G	ClinVar
RCV000406086	p.Val1158Ala	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102935079A>G	ClinVar
rs375675171	p.Val1158Ala	missense variant	-	NC_000001.11:g.102935079A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1159Asp	missense variant	-	NC_000001.11:g.102935076C>T	NCI-TCGA
rs145253279	p.Ala1160Thr	missense variant	-	NC_000001.11:g.102935074C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Pro1161LeuPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.102935070G>-	NCI-TCGA
rs773318998	p.Pro1161Arg	missense variant	-	NC_000001.11:g.102935070G>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala1164Thr	missense variant	-	NC_000001.11:g.102935062C>T	NCI-TCGA
rs1387864980	p.Ala1164Ser	missense variant	-	NC_000001.11:g.102935062C>A	TOPMed,gnomAD
COSM3862059	p.Gly1165Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102934555C>T	NCI-TCGA Cosmic
rs777456846	p.Gly1166Cys	missense variant	-	NC_000001.11:g.102934553C>A	NCI-TCGA
rs777456846	p.Gly1166Cys	missense variant	-	NC_000001.11:g.102934553C>A	ExAC,gnomAD
rs1373311078	p.Asp1167Gly	missense variant	-	NC_000001.11:g.102934549T>C	TOPMed
rs1433647335	p.Gly1168Cys	missense variant	-	NC_000001.11:g.102934547C>A	TOPMed
COSM3933976	p.Glu1169Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102934544C>T	NCI-TCGA Cosmic
rs771888200	p.Pro1170Ser	missense variant	-	NC_000001.11:g.102934541G>A	ExAC,gnomAD
rs748514838	p.Arg1173Gly	missense variant	-	NC_000001.11:g.102934532T>C	ExAC,gnomAD
rs779474747	p.Arg1173Ser	missense variant	-	NC_000001.11:g.102934530T>A	ExAC,gnomAD
rs755406698	p.Gln1176His	missense variant	-	NC_000001.11:g.102934521C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly1177Glu	missense variant	-	NC_000001.11:g.102934519C>T	NCI-TCGA
COSM674632	p.Gly1180Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102934510C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln1181Lys	missense variant	-	NC_000001.11:g.102934508G>T	NCI-TCGA
rs370534700	p.Gln1181Pro	missense variant	-	NC_000001.11:g.102934507T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1183ValPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.102934503T>-	NCI-TCGA
rs750518623	p.Ala1187Ser	missense variant	-	NC_000001.11:g.102934490C>A	ExAC,gnomAD
RCV000626281	p.Phe1190Leu	missense variant	Stickler syndrome, type 2 (STL2)	NC_000001.11:g.102934481A>G	ClinVar
rs1377819809	p.Phe1190Leu	missense variant	-	NC_000001.11:g.102934481A>G	NCI-TCGA
rs1377819809	p.Phe1190Leu	missense variant	-	NC_000001.11:g.102934481A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Pro1191His	missense variant	-	NC_000001.11:g.102934477G>T	NCI-TCGA
COSM674634	p.Gly1192Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102934475C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1192Ter	stop gained	-	NC_000001.11:g.102934475C>A	NCI-TCGA
rs762091325	p.Pro1193Thr	missense variant	-	NC_000001.11:g.102934472G>T	ExAC,gnomAD
rs752478007	p.Pro1193Leu	missense variant	-	NC_000001.11:g.102934471G>A	ExAC,TOPMed,gnomAD
rs752478007	p.Pro1193Arg	missense variant	-	NC_000001.11:g.102934471G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1194Thr	missense variant	-	NC_000001.11:g.102934469G>T	NCI-TCGA
rs868128582	p.Pro1194Ser	missense variant	-	NC_000001.11:g.102934469G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gly1195Cys	missense variant	-	NC_000001.11:g.102934466C>A	NCI-TCGA
COSM3470456	p.Pro1196Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102934462G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1196Gln	missense variant	-	NC_000001.11:g.102934462G>T	NCI-TCGA
rs776596192	p.Ile1197Thr	missense variant	-	NC_000001.11:g.102934459A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1198Val	missense variant	-	NC_000001.11:g.102934456C>A	NCI-TCGA
rs138507620	p.Leu1199Val	missense variant	-	NC_000001.11:g.102934454G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760198197	p.Gln1200His	missense variant	-	NC_000001.11:g.102934449C>G	ExAC,gnomAD
rs1349308961	p.Gly1201Ser	missense variant	-	NC_000001.11:g.102923389C>T	gnomAD
COSM1560150	p.Leu1202Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102923386G>T	NCI-TCGA Cosmic
COSM4019984	p.Pro1203Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102923383G>A	NCI-TCGA Cosmic
rs747117487	p.Pro1205Gln	missense variant	-	NC_000001.11:g.102923376G>T	ExAC,gnomAD
COSM674636	p.Pro1206Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102923374G>C	NCI-TCGA Cosmic
rs1427648893	p.Pro1206Leu	missense variant	-	NC_000001.11:g.102923373G>A	gnomAD
rs1234981157	p.Gly1207Cys	missense variant	-	NC_000001.11:g.102923371C>A	NCI-TCGA
rs1234981157	p.Gly1207Cys	missense variant	-	NC_000001.11:g.102923371C>A	TOPMed
NCI-TCGA novel	p.Glu1208Lys	missense variant	-	NC_000001.11:g.102923368C>T	NCI-TCGA
rs1417329768	p.Glu1208Gly	missense variant	-	NC_000001.11:g.102923367T>C	gnomAD
rs1485916096	p.Glu1211Lys	missense variant	-	NC_000001.11:g.102923359C>T	NCI-TCGA Cosmic
rs1485916096	p.Glu1211Lys	missense variant	-	NC_000001.11:g.102923359C>T	gnomAD
COSM3470452	p.Pro1217Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102923340G>C	NCI-TCGA Cosmic
RCV000318784	p.Pro1217Leu	missense variant	-	NC_000001.11:g.102923340G>A	ClinVar
rs753649097	p.Pro1217Leu	missense variant	-	NC_000001.11:g.102923340G>A	ExAC,gnomAD
RCV000489459	p.Met1218Val	missense variant	-	NC_000001.11:g.102923338T>C	ClinVar
rs951017335	p.Met1218Leu	missense variant	-	NC_000001.11:g.102923338T>A	TOPMed,gnomAD
rs951017335	p.Met1218Val	missense variant	-	NC_000001.11:g.102923338T>C	TOPMed,gnomAD
rs766027063	p.Met1218Thr	missense variant	-	NC_000001.11:g.102923337A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1219Trp	missense variant	-	NC_000001.11:g.102921571C>A	NCI-TCGA
rs772204282	p.Pro1220Ser	missense variant	-	NC_000001.11:g.102921568G>A	ExAC,TOPMed,gnomAD
rs748248761	p.Pro1220Leu	missense variant	-	NC_000001.11:g.102921567G>A	ExAC,gnomAD
rs1462477742	p.Pro1226Arg	missense variant	-	NC_000001.11:g.102921549G>C	gnomAD
rs868033385	p.Arg1227Gly	missense variant	-	NC_000001.11:g.102921547T>C	NCI-TCGA Cosmic
COSM893120	p.Arg1227Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102921546C>A	NCI-TCGA Cosmic
rs868033385	p.Arg1227Gly	missense variant	-	NC_000001.11:g.102921547T>C	gnomAD
rs779225134	p.Gly1228Arg	missense variant	-	NC_000001.11:g.102921544C>G	ExAC,gnomAD
COSM122261	p.Pro1229Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102921541G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1229Leu	missense variant	-	NC_000001.11:g.102921540G>A	NCI-TCGA
rs755814936	p.Pro1229Ser	missense variant	-	NC_000001.11:g.102921541G>A	ExAC,gnomAD
rs750291363	p.Gly1231Asp	missense variant	-	NC_000001.11:g.102921534C>T	ExAC,TOPMed,gnomAD
rs750291363	p.Gly1231Val	missense variant	-	NC_000001.11:g.102921534C>A	ExAC,TOPMed,gnomAD
rs781242618	p.Pro1232Ser	missense variant	-	NC_000001.11:g.102921532G>A	ExAC,TOPMed,gnomAD
rs778311240	p.Asn1233Ser	missense variant	-	NC_000001.11:g.102921528T>C	ExAC,gnomAD
rs1196261195	p.Asn1233Asp	missense variant	-	NC_000001.11:g.102921529T>C	TOPMed
RCV000659321	p.Asn1233Ser	missense variant	Connective tissue disorder	NC_000001.11:g.102921528T>C	ClinVar
COSM4019982	p.Gly1234Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102921525C>T	NCI-TCGA Cosmic
rs1485524435	p.Gly1234Ala	missense variant	-	NC_000001.11:g.102921525C>G	gnomAD
rs1356363513	p.Ala1235Asp	missense variant	-	NC_000001.11:g.102921522G>T	gnomAD
rs762530182	p.Asp1236Gly	missense variant	-	NC_000001.11:g.102921519T>C	ExAC,gnomAD
rs140292959	p.Asp1236Asn	missense variant	-	NC_000001.11:g.102921520C>T	ESP,ExAC,TOPMed,gnomAD
COSM1248737	p.Gly1237Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920363C>T	NCI-TCGA Cosmic
COSM3470448	p.Pro1238Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920360G>A	NCI-TCGA Cosmic
COSM3417797	p.Pro1238Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920361G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1238Ser	missense variant	-	NC_000001.11:g.102920361G>A	NCI-TCGA
NCI-TCGA novel	p.Gln1239Arg	missense variant	-	NC_000001.11:g.102920357T>C	NCI-TCGA
rs754679150	p.Gln1239Ter	stop gained	-	NC_000001.11:g.102920358G>A	ExAC,TOPMed,gnomAD
rs754679150	p.Gln1239Lys	missense variant	-	NC_000001.11:g.102920358G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1241His	missense variant	-	NC_000001.11:g.102920351G>T	NCI-TCGA
rs151195708	p.Pro1241Leu	missense variant	-	NC_000001.11:g.102920351G>A	ESP,ExAC
COSM4019978	p.Pro1242Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920348G>T	NCI-TCGA Cosmic
rs1178882531	p.Pro1242Arg	missense variant	-	NC_000001.11:g.102920348G>C	gnomAD
rs1340972566	p.Gly1243Ala	missense variant	-	NC_000001.11:g.102920345C>G	gnomAD
COSM6120284	p.Ser1244Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920342G>T	NCI-TCGA Cosmic
rs773541584	p.Ser1244Pro	missense variant	-	NC_000001.11:g.102920343A>G	ExAC,gnomAD
rs773541584	p.Ser1244Thr	missense variant	-	NC_000001.11:g.102920343A>T	ExAC,gnomAD
COSM3470446	p.Ser1247Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920333G>A	NCI-TCGA Cosmic
rs768117401	p.Ser1247Pro	missense variant	-	NC_000001.11:g.102920334A>G	ExAC,gnomAD
rs761766841	p.Val1248Ala	missense variant	-	NC_000001.11:g.102920330A>G	ExAC,TOPMed,gnomAD
COSM674638	p.Gly1249Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102920328C>G	NCI-TCGA Cosmic
rs1416193500	p.Gly1249Ser	missense variant	-	NC_000001.11:g.102920328C>T	gnomAD
rs774557757	p.Gly1250Asp	missense variant	-	NC_000001.11:g.102920324C>T	ExAC,gnomAD
rs971684833	p.Val1251Ile	missense variant	-	NC_000001.11:g.102920322C>T	TOPMed
COSM3417795	p.Glu1253Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102920316C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1253Val	missense variant	-	NC_000001.11:g.102920315T>A	NCI-TCGA
rs1295150525	p.Glu1253Lys	missense variant	-	NC_000001.11:g.102920316C>T	TOPMed
NCI-TCGA novel	p.Lys1254ArgPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.102920312T>-	NCI-TCGA
NCI-TCGA novel	p.Gly1255Cys	missense variant	-	NC_000001.11:g.102915684C>A	NCI-TCGA
NCI-TCGA novel	p.Glu1256Asp	missense variant	-	NC_000001.11:g.102915679T>G	NCI-TCGA
rs1341359482	p.Pro1257Ser	missense variant	-	NC_000001.11:g.102915678G>A	gnomAD
rs1275206156	p.Gly1258Arg	missense variant	-	NC_000001.11:g.102915675C>T	gnomAD
COSM1332127	p.Glu1259Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102915670T>G	NCI-TCGA Cosmic
rs148517780	p.Glu1259Gln	missense variant	-	NC_000001.11:g.102915672C>G	ESP,ExAC,TOPMed,gnomAD
rs1232967796	p.Glu1259Ala	missense variant	-	NC_000001.11:g.102915671T>G	gnomAD
rs148517780	p.Glu1259Lys	missense variant	-	NC_000001.11:g.102915672C>T	ESP,ExAC,TOPMed,gnomAD
rs756446203	p.Ala1260Pro	missense variant	-	NC_000001.11:g.102915669C>G	ExAC,gnomAD
rs750838060	p.Ala1260Glu	missense variant	-	NC_000001.11:g.102915668G>T	ExAC,TOPMed,gnomAD
rs756446203	p.Ala1260Ser	missense variant	-	NC_000001.11:g.102915669C>A	ExAC,gnomAD
RCV000513193	p.Ala1260Glu	missense variant	-	NC_000001.11:g.102915668G>T	ClinVar
NCI-TCGA novel	p.Gly1261Arg	missense variant	-	NC_000001.11:g.102915666C>G	NCI-TCGA
RCV000333937	p.Pro1263Leu	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102915659G>A	ClinVar
RCV000364042	p.Pro1263Leu	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102915659G>A	ClinVar
rs930762401	p.Pro1263Ser	missense variant	-	NC_000001.11:g.102915660G>A	TOPMed
rs930762401	p.Pro1263Thr	missense variant	-	NC_000001.11:g.102915660G>T	TOPMed
rs767905237	p.Pro1263Leu	missense variant	-	NC_000001.11:g.102915659G>A	ExAC,TOPMed,gnomAD
RCV000269269	p.Pro1263Leu	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102915659G>A	ClinVar
rs764203200	p.Gly1264Glu	missense variant	-	NC_000001.11:g.102915656C>T	ExAC
rs775808299	p.Pro1265Leu	missense variant	-	NC_000001.11:g.102915653G>A	ExAC,TOPMed,gnomAD
COSM3470442	p.Pro1266Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102915650G>A	NCI-TCGA Cosmic
COSM3470444	p.Pro1266Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102915651G>A	NCI-TCGA Cosmic
COSM674640	p.Gly1267Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102915648C>A	NCI-TCGA Cosmic
rs770191756	p.Glu1268Lys	missense variant	-	NC_000001.11:g.102915645C>T	ExAC,gnomAD
rs1281016939	p.Gly1270Ser	missense variant	-	NC_000001.11:g.102915639C>T	TOPMed
rs746752529	p.Gly1270Asp	missense variant	-	NC_000001.11:g.102915638C>T	ExAC,gnomAD
RCV000179067	p.Val1271Leu	missense variant	-	NC_000001.11:g.102915636C>A	ClinVar
COSM893118	p.Val1271Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102915635A>G	NCI-TCGA Cosmic
rs150669855	p.Val1271Ile	missense variant	-	NC_000001.11:g.102915636C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150669855	p.Val1271Leu	missense variant	-	NC_000001.11:g.102915636C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1396950266	p.Gly1272Ser	missense variant	-	NC_000001.11:g.102915633C>T	NCI-TCGA
rs1396950266	p.Gly1272Ser	missense variant	-	NC_000001.11:g.102915633C>T	gnomAD
rs779596901	p.Gly1273Val	missense variant	-	NC_000001.11:g.102914810C>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro1274Ser	missense variant	-	NC_000001.11:g.102914808G>A	NCI-TCGA
rs1235259972	p.Gly1276Ala	missense variant	-	NC_000001.11:g.102914801C>G	TOPMed
rs1343449148	p.Gly1276Ter	stop gained	-	NC_000001.11:g.102914802C>A	gnomAD
RCV000493349	p.Glu1277Asp	missense variant	-	NC_000001.11:g.102914797T>G	ClinVar
rs745458984	p.Glu1277Gln	missense variant	-	NC_000001.11:g.102914799C>G	ExAC,gnomAD
rs745458984	p.Glu1277Lys	missense variant	-	NC_000001.11:g.102914799C>T	ExAC,gnomAD
rs780739712	p.Glu1277Asp	missense variant	-	NC_000001.11:g.102914797T>G	ExAC,TOPMed,gnomAD
COSM3862057	p.Arg1278Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914795C>T	NCI-TCGA Cosmic
rs1484726432	p.Arg1278Thr	missense variant	-	NC_000001.11:g.102914795C>G	NCI-TCGA Cosmic
rs1484726432	p.Arg1278Thr	missense variant	-	NC_000001.11:g.102914795C>G	TOPMed
rs752021003	p.Gly1279Arg	missense variant	-	NC_000001.11:g.102914793C>T	ExAC,gnomAD
rs778396488	p.Glu1280Asp	missense variant	-	NC_000001.11:g.102914788C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1282Val	missense variant	-	NC_000001.11:g.102914783C>A	NCI-TCGA
rs759044451	p.Gly1282Ala	missense variant	-	NC_000001.11:g.102914783C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1283Lys	missense variant	-	NC_000001.11:g.102914781C>T	NCI-TCGA
rs1474826014	p.Glu1283Ala	missense variant	-	NC_000001.11:g.102914780T>G	gnomAD
rs1217545710	p.Ala1284Val	missense variant	-	NC_000001.11:g.102914777G>A	gnomAD
rs1239854554	p.Ala1284Thr	missense variant	-	NC_000001.11:g.102914778C>T	gnomAD
COSM1320197	p.Gly1285Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914775C>T	NCI-TCGA Cosmic
rs752815752	p.Gly1285Arg	missense variant	-	NC_000001.11:g.102914775C>G	ExAC,gnomAD
COSM674644	p.Pro1286Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914772G>A	NCI-TCGA Cosmic
rs374625601	p.Pro1286Ala	missense variant	-	NC_000001.11:g.102914772G>C	ESP,ExAC,TOPMed,gnomAD
COSM3801081	p.Gly1288Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914765C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala1289Ser	missense variant	-	NC_000001.11:g.102914763C>A	NCI-TCGA
NCI-TCGA novel	p.Ala1289Asp	missense variant	-	NC_000001.11:g.102914762G>T	NCI-TCGA
rs759561852	p.Ala1289Gly	missense variant	-	NC_000001.11:g.102914762G>C	ExAC,TOPMed,gnomAD
rs1212241628	p.Ala1289Thr	missense variant	-	NC_000001.11:g.102914763C>T	gnomAD
RCV000445185	p.Ala1290Ser	missense variant	-	NC_000001.11:g.102914760C>A	ClinVar
rs199555214	p.Ala1290Gly	missense variant	-	NC_000001.11:g.102914759G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs370988085	p.Ala1290Ser	missense variant	-	NC_000001.11:g.102914760C>A	ESP,ExAC,TOPMed,gnomAD
rs1043927378	p.Pro1292Leu	missense variant	-	NC_000001.11:g.102914753G>A	gnomAD
rs1271972029	p.Pro1292Thr	missense variant	-	NC_000001.11:g.102914754G>T	TOPMed,gnomAD
rs1043927378	p.Pro1292His	missense variant	-	NC_000001.11:g.102914753G>T	gnomAD
rs1043927378	p.Pro1292Arg	missense variant	-	NC_000001.11:g.102914753G>C	gnomAD
rs1396420343	p.Pro1293Leu	missense variant	-	NC_000001.11:g.102914750G>A	TOPMed
NCI-TCGA novel	p.Gly1294Ser	missense variant	-	NC_000001.11:g.102914748C>T	NCI-TCGA
rs774196470	p.Gly1294Asp	missense variant	-	NC_000001.11:g.102914747C>T	ExAC,gnomAD
rs1432341386	p.Ala1295Val	missense variant	-	NC_000001.11:g.102914744G>A	TOPMed
rs1459686009	p.Lys1296Arg	missense variant	-	NC_000001.11:g.102914741T>C	gnomAD
rs762819669	p.Pro1299Arg	missense variant	-	NC_000001.11:g.102914732G>C	ExAC,gnomAD
rs200465040	p.Pro1299Thr	missense variant	-	NC_000001.11:g.102914733G>T	1000Genomes,TOPMed
rs200465040	p.Pro1299Ser	missense variant	-	NC_000001.11:g.102914733G>A	1000Genomes,TOPMed
rs775410525	p.Gly1300Ser	missense variant	-	NC_000001.11:g.102914730C>T	ExAC,TOPMed,gnomAD
COSM1688150	p.Pro1304Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914718G>A	NCI-TCGA Cosmic
rs1416828428	p.Pro1304Arg	missense variant	-	NC_000001.11:g.102914717G>C	TOPMed,gnomAD
rs1189962617	p.Lys1305Glu	missense variant	-	NC_000001.11:g.102914715T>C	gnomAD
NCI-TCGA novel	p.Gly1306Ser	missense variant	-	NC_000001.11:g.102914712C>T	NCI-TCGA
rs985916777	p.Asn1307Asp	missense variant	-	NC_000001.11:g.102914709T>C	TOPMed
rs769308801	p.Pro1308Leu	missense variant	-	NC_000001.11:g.102914705G>A	ExAC,TOPMed,gnomAD
COSM4855989	p.Gly1309Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914405C>A	NCI-TCGA Cosmic
COSM893114	p.Pro1310His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914401G>T	NCI-TCGA Cosmic
rs1475841795	p.Pro1310Thr	missense variant	-	NC_000001.11:g.102914402G>T	TOPMed
rs944444858	p.Val1311Phe	missense variant	-	NC_000001.11:g.102914399C>A	gnomAD
rs944444858	p.Val1311Ile	missense variant	-	NC_000001.11:g.102914399C>T	gnomAD
rs200014253	p.Phe1313Tyr	missense variant	-	NC_000001.11:g.102914392A>T	gnomAD
rs1306480088	p.Phe1313Leu	missense variant	-	NC_000001.11:g.102914391A>C	gnomAD
VAR_013586	p.Phe1313_Gly1315del	inframe_deletion	Stickler syndrome 2 (STL2) [MIM:604841]	-	UniProt
RCV000022497	p.Gly1315Ter	nonsense	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102914387C>A	ClinVar
COSM1332124	p.Asp1316His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102914384C>G	NCI-TCGA Cosmic
rs1390638679	p.Asp1316Tyr	missense variant	-	NC_000001.11:g.102914384C>A	NCI-TCGA Cosmic
rs1390638679	p.Asp1316Tyr	missense variant	-	NC_000001.11:g.102914384C>A	gnomAD
NCI-TCGA novel	p.Pro1317Thr	missense variant	-	NC_000001.11:g.102914381G>T	NCI-TCGA
rs147993467	p.Pro1317Arg	missense variant	-	NC_000001.11:g.102914380G>C	ESP,TOPMed
rs1190686816	p.Pro1317Ser	missense variant	-	NC_000001.11:g.102914381G>A	TOPMed
NCI-TCGA novel	p.Gly1318Val	missense variant	-	NC_000001.11:g.102914377C>A	NCI-TCGA
rs772512103	p.Gly1318Ser	missense variant	-	NC_000001.11:g.102914378C>T	ExAC,gnomAD
rs1160206410	p.Pro1319Ala	missense variant	-	NC_000001.11:g.102914375G>C	TOPMed
rs1160206410	p.Pro1319Ser	missense variant	-	NC_000001.11:g.102914375G>A	TOPMed
NCI-TCGA novel	p.Pro1320Leu	missense variant	-	NC_000001.11:g.102914371G>A	NCI-TCGA
rs377044024	p.Pro1323Ser	missense variant	-	NC_000001.11:g.102914363G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000328768	p.Pro1323Leu	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102914362G>A	ClinVar
RCV000247078	p.Pro1323Leu	missense variant	-	NC_000001.11:g.102914362G>A	ClinVar
RCV000364819	p.Pro1323Leu	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102914362G>A	ClinVar
RCV000270271	p.Pro1323Leu	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102914362G>A	ClinVar
rs377044024	p.Pro1323Thr	missense variant	-	NC_000001.11:g.102914363G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs3753841	p.Pro1323Leu	missense variant	-	NC_000001.11:g.102914362G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1157861513	p.Pro1325Ser	missense variant	-	NC_000001.11:g.102914357G>A	NCI-TCGA
rs1157861513	p.Pro1325Ser	missense variant	-	NC_000001.11:g.102914357G>A	TOPMed,gnomAD
rs758156598	p.Ala1326Thr	missense variant	-	NC_000001.11:g.102914354C>T	NCI-TCGA
rs758156598	p.Ala1326Thr	missense variant	-	NC_000001.11:g.102914354C>T	ExAC
rs752481470	p.Ala1326Glu	missense variant	-	NC_000001.11:g.102914353G>T	ExAC,gnomAD
VAR_035743	p.Ala1326Val	Missense	-	-	UniProt
NCI-TCGA novel	p.Gly1327Ser	missense variant	-	NC_000001.11:g.102913690C>T	NCI-TCGA
NCI-TCGA novel	p.Gly1327Cys	missense variant	-	NC_000001.11:g.102913690C>A	NCI-TCGA
rs750014974	p.Gln1328Lys	missense variant	-	NC_000001.11:g.102913687G>T	ExAC,gnomAD
rs750014974	p.Gln1328Lys	missense variant	-	NC_000001.11:g.102913687G>T	UniProt,dbSNP
VAR_035744	p.Gln1328Lys	missense variant	-	NC_000001.11:g.102913687G>T	UniProt
VAR_035745	p.Gln1328Leu	Missense	-	-	UniProt
rs1392711625	p.Asp1329Glu	missense variant	-	NC_000001.11:g.102913682A>C	gnomAD
rs559885800	p.Gly1330Cys	missense variant	-	NC_000001.11:g.102913681C>A	NCI-TCGA,NCI-TCGA Cosmic
rs559885800	p.Gly1330Cys	missense variant	-	NC_000001.11:g.102913681C>A	1000Genomes,ExAC,gnomAD
rs547219683	p.Gly1330Asp	missense variant	-	NC_000001.11:g.102913680C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp1334His	missense variant	-	NC_000001.11:g.102913669C>G	NCI-TCGA
rs1438201626	p.Glu1337Asp	missense variant	-	NC_000001.11:g.102913658T>G	TOPMed
rs1372635007	p.Asp1338Gly	missense variant	-	NC_000001.11:g.102913656T>C	gnomAD
rs1191132031	p.Gly1339Arg	missense variant	-	NC_000001.11:g.102913654C>T	gnomAD
rs368644959	p.Asp1340Gly	missense variant	-	NC_000001.11:g.102913650T>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1341Ser	missense variant	-	NC_000001.11:g.102913648G>A	NCI-TCGA
NCI-TCGA novel	p.Gly1342Val	missense variant	-	NC_000001.11:g.102913644C>A	NCI-TCGA
COSM674650	p.Gln1343Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102913642G>T	NCI-TCGA Cosmic
rs145997317	p.Gln1343Arg	missense variant	-	NC_000001.11:g.102913641T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145997317	p.Gln1343Pro	missense variant	-	NC_000001.11:g.102913641T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs528959090	p.Pro1344Gln	missense variant	-	NC_000001.11:g.102913638G>T	NCI-TCGA
rs528959090	p.Pro1344Gln	missense variant	-	NC_000001.11:g.102913638G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs528959090	p.Pro1344Leu	missense variant	-	NC_000001.11:g.102913638G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM380756	p.Gly1345Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102912212C>A	NCI-TCGA Cosmic
rs372293857	p.Gly1345Arg	missense variant	-	NC_000001.11:g.102912212C>G	ESP,TOPMed
NCI-TCGA novel	p.Pro1346Thr	missense variant	-	NC_000001.11:g.102912209G>T	NCI-TCGA
rs1233186933	p.Pro1346Ser	missense variant	-	NC_000001.11:g.102912209G>A	gnomAD
NCI-TCGA novel	p.Pro1347Thr	missense variant	-	NC_000001.11:g.102912206G>T	NCI-TCGA
NCI-TCGA novel	p.Pro1347His	missense variant	-	NC_000001.11:g.102912205G>T	NCI-TCGA
rs1342453369	p.Pro1347Ser	missense variant	-	NC_000001.11:g.102912206G>A	gnomAD
rs777133387	p.Pro1349Leu	missense variant	-	NC_000001.11:g.102912199G>A	ExAC,gnomAD
rs1335494349	p.Gly1351Cys	missense variant	-	NC_000001.11:g.102912194C>A	gnomAD
rs1306769069	p.Glu1352Asp	missense variant	-	NC_000001.11:g.102912189C>A	NCI-TCGA
rs1306769069	p.Glu1352Asp	missense variant	-	NC_000001.11:g.102912189C>A	TOPMed,gnomAD
RCV000399033	p.Ala1353Thr	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102912188C>T	ClinVar
RCV000352679	p.Ala1353Thr	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102912188C>T	ClinVar
RCV000288389	p.Ala1353Thr	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102912188C>T	ClinVar
rs151249006	p.Ala1353Thr	missense variant	-	NC_000001.11:g.102912188C>T	ESP,ExAC,TOPMed,gnomAD
rs773288292	p.Pro1355Leu	missense variant	-	NC_000001.11:g.102912181G>A	ExAC,gnomAD
rs772400369	p.Pro1356Ser	missense variant	-	NC_000001.11:g.102912179G>A	ExAC,TOPMed,gnomAD
rs986400534	p.Pro1356Gln	missense variant	-	NC_000001.11:g.102912178G>T	TOPMed,gnomAD
rs986400534	p.Pro1356Arg	missense variant	-	NC_000001.11:g.102912178G>C	TOPMed,gnomAD
rs1173329613	p.Gly1357Cys	missense variant	-	NC_000001.11:g.102912176C>A	gnomAD
rs1362979459	p.Gly1360Glu	missense variant	-	NC_000001.11:g.102912166C>T	NCI-TCGA Cosmic
rs1362979459	p.Gly1360Glu	missense variant	-	NC_000001.11:g.102912166C>T	gnomAD
rs1483987605	p.Arg1362Gln	missense variant	-	NC_000001.11:g.102912160C>T	NCI-TCGA Cosmic
RCV000760438	p.Arg1362Ter	nonsense	-	NC_000001.11:g.102912161G>A	ClinVar
rs755987732	p.Arg1362Ter	stop gained	-	NC_000001.11:g.102912161G>A	ExAC,gnomAD
rs1483987605	p.Arg1362Gln	missense variant	-	NC_000001.11:g.102912160C>T	gnomAD
rs755987732	p.Arg1362Gly	missense variant	-	NC_000001.11:g.102912161G>C	ExAC,gnomAD
COSM4899692	p.Pro1364Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898991G>A	NCI-TCGA Cosmic
rs746495082	p.Pro1364His	missense variant	-	NC_000001.11:g.102898990G>T	NCI-TCGA
rs746495082	p.Pro1364Leu	missense variant	-	NC_000001.11:g.102898990G>A	ExAC,TOPMed,gnomAD
rs746495082	p.Pro1364His	missense variant	-	NC_000001.11:g.102898990G>T	ExAC,TOPMed,gnomAD
RCV000413393	p.Ala1367Val	missense variant	-	NC_000001.11:g.102898981G>A	ClinVar
rs1057518442	p.Ala1367Val	missense variant	-	NC_000001.11:g.102898981G>A	-
rs757857147	p.Ala1368Ser	missense variant	-	NC_000001.11:g.102898979C>A	ExAC,gnomAD
rs1363292349	p.Ala1368Val	missense variant	-	NC_000001.11:g.102898978G>A	gnomAD
NCI-TCGA novel	p.Gly1369Asp	missense variant	-	NC_000001.11:g.102898975C>T	NCI-TCGA
COSM674652	p.Ala1370Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898972G>T	NCI-TCGA Cosmic
rs1322761774	p.Ala1370Thr	missense variant	-	NC_000001.11:g.102898973C>T	TOPMed,gnomAD
COSM6057233	p.Gln1374Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102898961G>A	NCI-TCGA Cosmic
rs1003817827	p.Gln1374Arg	missense variant	-	NC_000001.11:g.102898960T>C	TOPMed,gnomAD
COSM5917098	p.Glu1376Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898955C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1377Arg	missense variant	-	NC_000001.11:g.102898951T>C	NCI-TCGA
rs1164045497	p.Lys1377Glu	missense variant	-	NC_000001.11:g.102898952T>C	gnomAD
rs752294373	p.Gly1378Cys	missense variant	-	NC_000001.11:g.102898949C>A	NCI-TCGA
NCI-TCGA novel	p.Gly1378ValPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.102898950T>-	NCI-TCGA
rs752294373	p.Gly1378Cys	missense variant	-	NC_000001.11:g.102898949C>A	ExAC
rs764897552	p.Ala1379Gly	missense variant	-	NC_000001.11:g.102898945G>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly1381Arg	missense variant	-	NC_000001.11:g.102898773C>T	NCI-TCGA
NCI-TCGA novel	p.Glu1382LysPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.102898770C>-	NCI-TCGA
rs1294086587	p.Ala1383Glu	missense variant	-	NC_000001.11:g.102898766G>T	gnomAD
rs1306734276	p.Ala1385Glu	missense variant	-	NC_000001.11:g.102898760G>T	gnomAD
NCI-TCGA novel	p.Gly1387Cys	missense variant	-	NC_000001.11:g.102898755C>A	NCI-TCGA
NCI-TCGA novel	p.Pro1388His	missense variant	-	NC_000001.11:g.102898751G>T	NCI-TCGA
rs1409133245	p.Pro1388Arg	missense variant	-	NC_000001.11:g.102898751G>C	gnomAD
COSM5938611	p.Gly1390Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898745C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1390Arg	missense variant	-	NC_000001.11:g.102898746C>T	NCI-TCGA
rs753496492	p.Lys1391Asn	missense variant	-	NC_000001.11:g.102898741T>A	ExAC
rs1239154521	p.Lys1391Ile	missense variant	-	NC_000001.11:g.102898742T>A	gnomAD
rs780411112	p.Thr1392Ile	missense variant	-	NC_000001.11:g.102898739G>A	ExAC,TOPMed,gnomAD
rs780411112	p.Thr1392Ser	missense variant	-	NC_000001.11:g.102898739G>C	ExAC,TOPMed,gnomAD
rs761963308	p.Gly1393Asp	missense variant	-	NC_000001.11:g.102898736C>T	ExAC,TOPMed,gnomAD
rs767950147	p.Gly1393Ser	missense variant	-	NC_000001.11:g.102898737C>T	ExAC,gnomAD
rs148748247	p.Val1395Ile	missense variant	-	NC_000001.11:g.102898731C>T	ESP,ExAC,gnomAD
rs763199410	p.Gly1396Ser	missense variant	-	NC_000001.11:g.102898728C>T	NCI-TCGA
rs763199410	p.Gly1396Ser	missense variant	-	NC_000001.11:g.102898728C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gln1398Ter	stop gained	-	NC_000001.11:g.102898722G>A	NCI-TCGA
rs775587076	p.Gln1398Pro	missense variant	-	NC_000001.11:g.102898721T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1401Pro	missense variant	-	NC_000001.11:g.102898713C>G	NCI-TCGA
COSM3470440	p.Gly1402Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898709C>T	NCI-TCGA Cosmic
COSM4937347	p.Lys1403Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898706T>A	NCI-TCGA Cosmic
rs376137502	p.Gly1405Arg	missense variant	-	NC_000001.11:g.102898701C>G	ESP,ExAC,TOPMed,gnomAD
rs376137502	p.Gly1405Ser	missense variant	-	NC_000001.11:g.102898701C>T	ESP,ExAC,TOPMed,gnomAD
rs1254540628	p.Pro1406Ser	missense variant	-	NC_000001.11:g.102898698G>A	TOPMed,gnomAD
rs1400827817	p.Glu1407Gly	missense variant	-	NC_000001.11:g.102898694T>C	TOPMed,gnomAD
RCV000488030	p.Gly1408Ser	missense variant	-	NC_000001.11:g.102898692C>T	ClinVar
RCV000393287	p.Gly1408Ser	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102898692C>T	ClinVar
RCV000314010	p.Gly1408Ser	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102898692C>T	ClinVar
RCV000368686	p.Gly1408Ser	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102898692C>T	ClinVar
rs200496207	p.Gly1408Ser	missense variant	-	NC_000001.11:g.102898692C>T	ESP,ExAC,TOPMed,gnomAD
rs1435827751	p.Leu1409Phe	missense variant	-	NC_000001.11:g.102898689G>A	NCI-TCGA Cosmic
rs1435827751	p.Leu1409Phe	missense variant	-	NC_000001.11:g.102898689G>A	TOPMed,gnomAD
rs768171353	p.Arg1410Gln	missense variant	-	NC_000001.11:g.102898685C>T	NCI-TCGA,NCI-TCGA Cosmic
rs768171353	p.Arg1410Gln	missense variant	-	NC_000001.11:g.102898685C>T	ExAC,TOPMed,gnomAD
rs778331804	p.Arg1410Trp	missense variant	-	NC_000001.11:g.102898686G>A	ExAC,TOPMed,gnomAD
rs778331804	p.Arg1410Gly	missense variant	-	NC_000001.11:g.102898686G>C	ExAC,TOPMed,gnomAD
rs768171353	p.Arg1410Pro	missense variant	-	NC_000001.11:g.102898685C>G	ExAC,TOPMed,gnomAD
rs1208561621	p.Gly1411Ala	missense variant	-	NC_000001.11:g.102898682C>G	TOPMed
rs1409930248	p.Ile1412Leu	missense variant	-	NC_000001.11:g.102898680T>G	gnomAD
NCI-TCGA novel	p.Pro1413His	missense variant	-	NC_000001.11:g.102898676G>T	NCI-TCGA
rs1400841435	p.Pro1413Arg	missense variant	-	NC_000001.11:g.102898676G>C	TOPMed,gnomAD
rs1377996908	p.Gly1414Cys	missense variant	-	NC_000001.11:g.102898674C>A	TOPMed
rs1467256592	p.Val1416Ala	missense variant	-	NC_000001.11:g.102898667A>G	gnomAD
NCI-TCGA novel	p.Gly1417Val	missense variant	-	NC_000001.11:g.102898177C>A	NCI-TCGA
rs752921387	p.Gly1417Arg	missense variant	-	NC_000001.11:g.102898178C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu1418Ter	stop gained	-	NC_000001.11:g.102898175C>A	NCI-TCGA
rs371230505	p.Ala1424Pro	missense variant	-	NC_000001.11:g.102898157C>G	ESP,ExAC,TOPMed,gnomAD
rs1174736601	p.Ala1424Asp	missense variant	-	NC_000001.11:g.102898156G>T	TOPMed
rs371230505	p.Ala1424Thr	missense variant	-	NC_000001.11:g.102898157C>T	ESP,ExAC,TOPMed,gnomAD
COSM1332122	p.Ala1425Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102898154C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala1425Gly	missense variant	-	NC_000001.11:g.102898153G>C	NCI-TCGA
rs1404508468	p.Gln1427Arg	missense variant	-	NC_000001.11:g.102898147T>C	TOPMed
rs137860254	p.Asp1428Gly	missense variant	-	NC_000001.11:g.102898144T>C	ESP,ExAC,TOPMed,gnomAD
rs542016016	p.Asp1428Asn	missense variant	-	NC_000001.11:g.102898145C>T	1000Genomes,gnomAD
NCI-TCGA novel	p.Gly1429Arg	missense variant	-	NC_000001.11:g.102898142C>T	NCI-TCGA
NCI-TCGA novel	p.Gly1429Val	missense variant	-	NC_000001.11:g.102898141C>A	NCI-TCGA
rs1331382007	p.Gly1429Glu	missense variant	-	NC_000001.11:g.102898141C>T	TOPMed
rs772950506	p.Met1434Val	missense variant	-	NC_000001.11:g.102898127T>C	ExAC,gnomAD
rs1160642253	p.Met1434Thr	missense variant	-	NC_000001.11:g.102898126A>G	gnomAD
rs767308411	p.Met1434Ile	missense variant	-	NC_000001.11:g.102898125C>A	ExAC,TOPMed,gnomAD
rs767308411	p.Met1434Ile	missense variant	-	NC_000001.11:g.102898125C>T	ExAC,TOPMed,gnomAD
COSM674662	p.Gly1435Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102890503C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1435Glu	missense variant	-	NC_000001.11:g.102890503C>T	NCI-TCGA
rs1042218810	p.Pro1436Leu	missense variant	-	NC_000001.11:g.102890500G>A	TOPMed
rs1450778119	p.Pro1436Thr	missense variant	-	NC_000001.11:g.102890501G>T	gnomAD
rs774243069	p.Gly1438Ser	missense variant	-	NC_000001.11:g.102890495C>T	ExAC,gnomAD
rs985135508	p.Leu1439Phe	missense variant	-	NC_000001.11:g.102890490T>A	TOPMed,gnomAD
rs1225478099	p.Pro1440Arg	missense variant	-	NC_000001.11:g.102890488G>C	gnomAD
rs764069410	p.Pro1440Thr	missense variant	-	NC_000001.11:g.102890489G>T	ExAC,gnomAD
rs774928560	p.Gly1441Arg	missense variant	-	NC_000001.11:g.102890486C>G	ExAC,gnomAD
rs1339382600	p.Leu1442Pro	missense variant	-	NC_000001.11:g.102890482A>G	TOPMed,gnomAD
rs769350133	p.Lys1443Arg	missense variant	-	NC_000001.11:g.102890479T>C	ExAC,TOPMed,gnomAD
rs769350133	p.Lys1443Thr	missense variant	-	NC_000001.11:g.102890479T>G	ExAC,TOPMed,gnomAD
rs1329690523	p.Gly1444Asp	missense variant	-	NC_000001.11:g.102890476C>T	gnomAD
rs975763978	p.Pro1446Ser	missense variant	-	NC_000001.11:g.102890471G>A	TOPMed,gnomAD
rs975763978	p.Pro1446Thr	missense variant	-	NC_000001.11:g.102890471G>T	TOPMed,gnomAD
rs1370091017	p.Lys1449Met	missense variant	-	NC_000001.11:g.102890461T>A	gnomAD
NCI-TCGA novel	p.Glu1451Ter	stop gained	-	NC_000001.11:g.102890456C>A	NCI-TCGA
rs776443673	p.Lys1452Gln	missense variant	-	NC_000001.11:g.102890453T>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly1453Arg	missense variant	-	NC_000001.11:g.102889562C>T	NCI-TCGA
rs184965786	p.Pro1455Ser	missense variant	-	NC_000001.11:g.102889556G>A	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1455His	missense variant	-	NC_000001.11:g.102889555G>T	NCI-TCGA
rs1248048372	p.Pro1455Leu	missense variant	-	NC_000001.11:g.102889555G>A	TOPMed
rs184965786	p.Pro1455Ser	missense variant	-	NC_000001.11:g.102889556G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly1456Cys	missense variant	-	NC_000001.11:g.102889553C>A	NCI-TCGA
COSM4019968	p.Leu1457Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102889550A>C	NCI-TCGA Cosmic
rs773776234	p.Ile1458Leu	missense variant	-	NC_000001.11:g.102889547T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1462Ser	missense variant	-	NC_000001.11:g.102889535C>T	NCI-TCGA
NCI-TCGA novel	p.Gly1462Ala	missense variant	-	NC_000001.11:g.102889534C>G	NCI-TCGA
NCI-TCGA novel	p.Pro1463Ser	missense variant	-	NC_000001.11:g.102889532G>A	NCI-TCGA
rs202194245	p.Pro1463His	missense variant	-	NC_000001.11:g.102889531G>T	ExAC,TOPMed,gnomAD
rs1261468907	p.Pro1463Thr	missense variant	-	NC_000001.11:g.102889532G>T	TOPMed
rs1342522458	p.Pro1464Leu	missense variant	-	NC_000001.11:g.102889528G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln1467Glu	missense variant	-	NC_000001.11:g.102889520G>C	NCI-TCGA
NCI-TCGA novel	p.Gln1467Lys	missense variant	-	NC_000001.11:g.102889520G>T	NCI-TCGA
COSM3470430	p.Glu1469Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102889514C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1469LysPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.102889514C>-	NCI-TCGA
NCI-TCGA novel	p.Glu1469Gly	missense variant	-	NC_000001.11:g.102889513T>C	NCI-TCGA
NCI-TCGA novel	p.Glu1469Ter	stop gained	-	NC_000001.11:g.102889514C>A	NCI-TCGA
rs1453166184	p.Lys1470Asn	missense variant	-	NC_000001.11:g.102889509T>G	gnomAD
rs1057522949	p.Gly1471Ser	missense variant	-	NC_000001.11:g.102889508C>T	TOPMed
RCV000420003	p.Gly1471Ser	missense variant	-	NC_000001.11:g.102889508C>T	ClinVar
NCI-TCGA novel	p.Gly1471ValPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.102889507C>-	NCI-TCGA
rs749419834	p.Gly1471Ala	missense variant	-	NC_000001.11:g.102889507C>G	ExAC,gnomAD
RCV000385330	p.Asp1472Glu	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102889503G>T	ClinVar
RCV000659326	p.Asp1472Glu	missense variant	Connective tissue disorder	NC_000001.11:g.102889503G>T	ClinVar
RCV000263257	p.Asp1472Glu	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102889503G>T	ClinVar
RCV000179220	p.Asp1472Glu	missense variant	-	NC_000001.11:g.102889503G>T	ClinVar
RCV000318353	p.Asp1472Glu	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102889503G>T	ClinVar
NCI-TCGA novel	p.Asp1472Tyr	missense variant	-	NC_000001.11:g.102889505C>A	NCI-TCGA
rs55821405	p.Asp1472Glu	missense variant	-	NC_000001.11:g.102889503G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs369947899	p.Arg1473Gln	missense variant	-	NC_000001.11:g.102889501C>T	ESP,ExAC,TOPMed,gnomAD
rs1185917760	p.Arg1473Ter	stop gained	-	NC_000001.11:g.102889502G>A	TOPMed
rs758235552	p.Leu1475Phe	missense variant	-	NC_000001.11:g.102889496G>A	ExAC,gnomAD
COSM1320199	p.Thr1478Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102889487T>A	NCI-TCGA Cosmic
rs765257116	p.Gln1479Arg	missense variant	-	NC_000001.11:g.102889483T>C	ExAC,gnomAD
COSM462493	p.Gly1480Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102889481C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1480AspPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.102889480C>-	NCI-TCGA
rs759091446	p.Gly1480Val	missense variant	-	NC_000001.11:g.102889480C>A	ExAC,TOPMed,gnomAD
rs759091446	p.Gly1480Glu	missense variant	-	NC_000001.11:g.102889480C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1481Cys	missense variant	-	NC_000001.11:g.102889477G>C	NCI-TCGA
rs1246567657	p.Pro1482Leu	missense variant	-	NC_000001.11:g.102889474G>A	gnomAD
COSM674664	p.Gly1483Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102889472C>A	NCI-TCGA Cosmic
rs1451135643	p.Ala1484Thr	missense variant	-	NC_000001.11:g.102889469C>T	TOPMed
rs760349942	p.Ala1484Gly	missense variant	-	NC_000001.11:g.102889468G>C	ExAC,gnomAD
COSM6120288	p.Asp1487Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102889460C>A	NCI-TCGA Cosmic
COSM6009391	p.Gly1489Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102888919C>T	NCI-TCGA Cosmic
RCV000306668	p.Ile1490Val	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102888916T>C	ClinVar
RCV000270328	p.Ile1490Val	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102888916T>C	ClinVar
RCV000364746	p.Ile1490Val	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102888916T>C	ClinVar
rs145901197	p.Ile1490Val	missense variant	-	NC_000001.11:g.102888916T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762071331	p.Pro1491Thr	missense variant	-	NC_000001.11:g.102888913G>T	ExAC,gnomAD
rs774846193	p.Pro1493Ala	missense variant	-	NC_000001.11:g.102888907G>C	ExAC,gnomAD
rs1362365012	p.Ala1494Thr	missense variant	-	NC_000001.11:g.102888904C>T	gnomAD
rs764371952	p.Ala1494Val	missense variant	-	NC_000001.11:g.102888903G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1495Cys	missense variant	-	NC_000001.11:g.102888901C>A	NCI-TCGA
RCV000310065	p.Pro1499Ser	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102888889G>A	ClinVar
RCV000399173	p.Pro1499Ser	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102888889G>A	ClinVar
RCV000359094	p.Pro1499Ser	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102888889G>A	ClinVar
NCI-TCGA novel	p.Pro1499Thr	missense variant	-	NC_000001.11:g.102888889G>T	NCI-TCGA
rs199952288	p.Pro1499Ser	missense variant	-	NC_000001.11:g.102888889G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1502Leu	missense variant	-	NC_000001.11:g.102888879G>A	NCI-TCGA
rs528529875	p.Pro1503Arg	missense variant	-	NC_000001.11:g.102888876G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs528529875	p.Pro1503Leu	missense variant	-	NC_000001.11:g.102888876G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779536838	p.Pro1506Ser	missense variant	-	NC_000001.11:g.102888868G>A	ExAC,gnomAD
rs994706812	p.Pro1506Arg	missense variant	-	NC_000001.11:g.102888867G>C	TOPMed
rs779536838	p.Pro1506Thr	missense variant	-	NC_000001.11:g.102888868G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly1507Val	missense variant	-	NC_000001.11:g.102888757C>A	NCI-TCGA
COSM893104	p.Pro1508Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102888754G>A	NCI-TCGA Cosmic
RCV000444944	p.Gln1509Pro	missense variant	-	NC_000001.11:g.102888751T>G	ClinVar
rs1057521422	p.Gln1509Pro	missense variant	-	NC_000001.11:g.102888751T>G	gnomAD
NCI-TCGA novel	p.Pro1511GlnPheSerTerUnkUnk	frameshift	-	NC_000001.11:g.102888745G>-	NCI-TCGA
rs1431878156	p.Lys1512Thr	missense variant	-	NC_000001.11:g.102888742T>G	TOPMed
RCV000523421	p.Gly1513Asp	missense variant	-	NC_000001.11:g.102888739C>T	ClinVar
COSM6057237	p.Gly1513Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102888740C>A	NCI-TCGA Cosmic
rs1553193913	p.Gly1513Asp	missense variant	-	NC_000001.11:g.102888739C>T	-
rs1553193913	p.Gly1513Asp	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.102888739C>T	UniProt,dbSNP
VAR_063678	p.Gly1513Asp	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.102888739C>T	UniProt
rs1468589956	p.Asn1514Lys	missense variant	-	NC_000001.11:g.102888735G>T	TOPMed
NCI-TCGA novel	p.Lys1515Glu	missense variant	-	NC_000001.11:g.102888734T>C	NCI-TCGA
RCV000624108	p.Gly1516Val	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102888730C>A	ClinVar
rs1553193910	p.Gly1516Val	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.102888730C>A	UniProt,dbSNP
VAR_013587	p.Gly1516Val	missense variant	Stickler syndrome 2 (STL2)	NC_000001.11:g.102888730C>A	UniProt
RCV000421756	p.Thr1518Pro	missense variant	-	NC_000001.11:g.102888725T>G	ClinVar
rs1057523166	p.Thr1518Pro	missense variant	-	NC_000001.11:g.102888725T>G	-
COSM6120290	p.Gly1519Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102888629C>A	NCI-TCGA Cosmic
COSM3360177	p.Gly1519Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102888629C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1520His	missense variant	-	NC_000001.11:g.102888626G>T	NCI-TCGA
rs1365998148	p.Pro1520Thr	missense variant	-	NC_000001.11:g.102888627G>T	TOPMed,gnomAD
rs769920499	p.Ala1521Thr	missense variant	-	NC_000001.11:g.102888624C>T	ExAC,TOPMed,gnomAD
rs1254394380	p.Gln1523Ter	stop gained	-	NC_000001.11:g.102888618G>A	gnomAD
rs146997967	p.Ser1527Arg	missense variant	-	NC_000001.11:g.102888604A>T	ESP,ExAC,gnomAD
rs745798375	p.Ser1527Cys	missense variant	-	NC_000001.11:g.102888606T>A	ExAC,gnomAD
rs578137786	p.Leu1529Pro	missense variant	-	NC_000001.11:g.102888599A>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000279813	p.Pro1532Ala	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102888591G>C	ClinVar
RCV000338595	p.Pro1532Ala	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102888591G>C	ClinVar
RCV000395192	p.Pro1532Ala	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102888591G>C	ClinVar
rs140954784	p.Pro1532Ala	missense variant	-	NC_000001.11:g.102888591G>C	ESP,ExAC,TOPMed,gnomAD
rs140954784	p.Pro1532Ser	missense variant	-	NC_000001.11:g.102888591G>A	ESP,ExAC,TOPMed,gnomAD
rs140954784	p.Pro1532Thr	missense variant	-	NC_000001.11:g.102888591G>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1533Thr	missense variant	-	NC_000001.11:g.102888588G>T	NCI-TCGA
RCV000018675	p.Ser1535Pro	missense variant	Lumbar disc herniation, susceptibility to	NC_000001.11:g.102888582A>G	ClinVar
rs1676486	p.Ser1535Thr	missense variant	-	NC_000001.11:g.102888582A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1676486	p.Ser1535Pro	missense variant	-	NC_000001.11:g.102888582A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000424224	p.Pro1536Ala	missense variant	-	NC_000001.11:g.102888579G>C	ClinVar
RCV000224103	p.Pro1536Ala	missense variant	-	NC_000001.11:g.102888579G>C	ClinVar
rs139064549	p.Pro1536Ala	missense variant	-	NC_000001.11:g.102888579G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM893102	p.Gly1537Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102887056C>A	NCI-TCGA Cosmic
rs1425339729	p.Gly1537Ser	missense variant	-	NC_000001.11:g.102887056C>T	gnomAD
rs1474325280	p.Pro1538Gln	missense variant	-	NC_000001.11:g.102887052G>T	NCI-TCGA
rs749767116	p.Pro1538Ala	missense variant	-	NC_000001.11:g.102887053G>C	ExAC,gnomAD
rs749767116	p.Pro1538Ser	missense variant	-	NC_000001.11:g.102887053G>A	ExAC,gnomAD
rs1474325280	p.Pro1538Gln	missense variant	-	NC_000001.11:g.102887052G>T	gnomAD
rs1374575593	p.Pro1539Ser	missense variant	-	NC_000001.11:g.102887050G>A	TOPMed,gnomAD
rs1052910271	p.Pro1539Arg	missense variant	-	NC_000001.11:g.102887049G>C	TOPMed
rs1432536379	p.Gly1540Asp	missense variant	-	NC_000001.11:g.102887046C>T	gnomAD
rs933062306	p.Gly1540Arg	missense variant	-	NC_000001.11:g.102887047C>G	TOPMed,gnomAD
rs933062306	p.Gly1540Ser	missense variant	-	NC_000001.11:g.102887047C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Val1542Phe	missense variant	-	NC_000001.11:g.102887041C>A	NCI-TCGA
rs754341755	p.Val1542Ile	missense variant	-	NC_000001.11:g.102887041C>T	ExAC,gnomAD
RCV000319120	p.Ile1543Leu	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102887038T>G	ClinVar
RCV000366831	p.Ile1543Leu	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102887038T>G	ClinVar
RCV000272047	p.Ile1543Leu	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102887038T>G	ClinVar
rs558548172	p.Ile1543Leu	missense variant	-	NC_000001.11:g.102887038T>G	ExAC,TOPMed,gnomAD
rs558548172	p.Ile1543Val	missense variant	-	NC_000001.11:g.102887038T>C	ExAC,TOPMed,gnomAD
COSM3470428	p.Gln1544Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102887035G>A	NCI-TCGA Cosmic
rs1490364715	p.Pro1545Ser	missense variant	-	NC_000001.11:g.102887032G>A	gnomAD
rs1266607435	p.Pro1545Leu	missense variant	-	NC_000001.11:g.102887031G>A	TOPMed
RCV000729010	p.Ile1548Val	missense variant	-	NC_000001.11:g.102887023T>C	ClinVar
NCI-TCGA novel	p.Ile1548Phe	missense variant	-	NC_000001.11:g.102887023T>A	NCI-TCGA
rs760798511	p.Ile1548Thr	missense variant	-	NC_000001.11:g.102887022A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser1550Phe	missense variant	-	NC_000001.11:g.102887016G>A	NCI-TCGA
rs1204675708	p.Ser1550Pro	missense variant	-	NC_000001.11:g.102887017A>G	TOPMed,gnomAD
rs762069759	p.Ser1551Thr	missense variant	-	NC_000001.11:g.102887014A>T	ExAC,gnomAD
rs934399446	p.Lys1552Ter	stop gained	-	NC_000001.11:g.102887011T>A	TOPMed
RCV000498209	p.Thr1554Met	missense variant	-	NC_000001.11:g.102887004G>A	ClinVar
COSM1332118	p.Thr1554ArgPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102887005T>-	NCI-TCGA Cosmic
COSM1953794	p.Thr1554AsnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102887004_102887005insT	NCI-TCGA Cosmic
rs759287748	p.Thr1554Met	missense variant	-	NC_000001.11:g.102887004G>A	ExAC,TOPMed,gnomAD
rs759287748	p.Thr1554Lys	missense variant	-	NC_000001.11:g.102887004G>T	ExAC,TOPMed,gnomAD
rs149516921	p.Arg1555Ser	missense variant	-	NC_000001.11:g.102887000T>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM5157272	p.Thr1558Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886993T>G	NCI-TCGA Cosmic
rs144404767	p.Thr1558Ala	missense variant	-	NC_000001.11:g.102886993T>C	ESP,ExAC,TOPMed,gnomAD
rs1465324011	p.Gly1560Asp	missense variant	-	NC_000001.11:g.102886986C>T	gnomAD
COSM674666	p.Gly1560Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886987C>A	NCI-TCGA Cosmic
COSM3862055	p.Gly1560Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886987C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly1560Val	missense variant	-	NC_000001.11:g.102886986C>A	NCI-TCGA
rs1480517646	p.Met1561Ile	missense variant	-	NC_000001.11:g.102886982C>T	gnomAD
rs747747101	p.Met1561Val	missense variant	-	NC_000001.11:g.102886984T>C	ExAC,gnomAD
rs778579185	p.Met1561Thr	missense variant	-	NC_000001.11:g.102886983A>G	ExAC,gnomAD
COSM893100	p.Gln1562His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886979T>G	NCI-TCGA Cosmic
rs377486490	p.Asp1564Glu	missense variant	-	NC_000001.11:g.102886973A>C	ESP,ExAC,TOPMed,gnomAD
COSM4019964	p.Ala1565Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886971G>A	NCI-TCGA Cosmic
COSM6057241	p.Ala1565Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886972C>A	NCI-TCGA Cosmic
rs749676525	p.Ala1565Thr	missense variant	-	NC_000001.11:g.102886972C>T	ExAC,TOPMed,gnomAD
rs780611200	p.Asp1566Tyr	missense variant	-	NC_000001.11:g.102886969C>A	ExAC,gnomAD
rs780611200	p.Asp1566Tyr	missense variant	-	NC_000001.11:g.102886969C>A	NCI-TCGA,NCI-TCGA Cosmic
rs756511227	p.Asp1567Gly	missense variant	-	NC_000001.11:g.102886965T>C	ExAC,TOPMed,gnomAD
rs767658281	p.Ile1569Thr	missense variant	-	NC_000001.11:g.102886959A>G	ExAC,gnomAD
rs1224654721	p.Leu1570Ile	missense variant	-	NC_000001.11:g.102886957G>T	NCI-TCGA
rs558265763	p.Leu1570Pro	missense variant	-	NC_000001.11:g.102886956A>G	ExAC,TOPMed,gnomAD
rs1224654721	p.Leu1570Ile	missense variant	-	NC_000001.11:g.102886957G>T	gnomAD
rs1277867710	p.Asp1571Tyr	missense variant	-	NC_000001.11:g.102886954C>A	gnomAD
RCV000443614	p.Ser1573Leu	missense variant	-	NC_000001.11:g.102886947G>A	ClinVar
rs143531636	p.Ser1573Leu	missense variant	-	NC_000001.11:g.102886947G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs865904271	p.Ser1573Pro	missense variant	-	NC_000001.11:g.102886948A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp1574Glu	missense variant	-	NC_000001.11:g.102886943A>T	NCI-TCGA
rs1264711178	p.Asp1574Ala	missense variant	-	NC_000001.11:g.102886944T>G	TOPMed
NCI-TCGA novel	p.Gly1575Arg	missense variant	-	NC_000001.11:g.102886942C>T	NCI-TCGA
RCV000359724	p.Met1576Ile	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102886937C>A	ClinVar
RCV000302457	p.Met1576Ile	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102886937C>A	ClinVar
RCV000390149	p.Met1576Ile	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102886937C>A	ClinVar
rs886044974	p.Met1576Ile	missense variant	-	NC_000001.11:g.102886937C>A	-
COSM4405972	p.Glu1577Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886936C>T	NCI-TCGA Cosmic
rs1451702521	p.Glu1577Gly	missense variant	-	NC_000001.11:g.102886935T>C	gnomAD
rs776356995	p.Glu1578Gln	missense variant	-	NC_000001.11:g.102886933C>G	ExAC,TOPMed,gnomAD
rs766197307	p.Phe1580Leu	missense variant	-	NC_000001.11:g.102886927A>G	ExAC,TOPMed,gnomAD
rs773151919	p.Gly1581Ala	missense variant	-	NC_000001.11:g.102886923C>G	ExAC,gnomAD
rs760545137	p.Gly1581Cys	missense variant	-	NC_000001.11:g.102886924C>A	ExAC,gnomAD
rs1470853407	p.Asn1584Tyr	missense variant	-	NC_000001.11:g.102886915T>A	TOPMed,gnomAD
rs1470853407	p.Asn1584Asp	missense variant	-	NC_000001.11:g.102886915T>C	TOPMed,gnomAD
COSM3470424	p.Ser1585Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886911G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1589Gly	missense variant	-	NC_000001.11:g.102886899T>C	NCI-TCGA
NCI-TCGA novel	p.Asp1589Tyr	missense variant	-	NC_000001.11:g.102886900C>A	NCI-TCGA
rs774042103	p.Asp1589His	missense variant	-	NC_000001.11:g.102886900C>G	ExAC,gnomAD
rs2229783	p.Ile1590Met	missense variant	-	NC_000001.11:g.102886895A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1245338776	p.Ile1590Val	missense variant	-	NC_000001.11:g.102886897T>C	gnomAD
rs1282721396	p.Glu1591Lys	missense variant	-	NC_000001.11:g.102886894C>T	gnomAD
rs780226288	p.His1592Arg	missense variant	-	NC_000001.11:g.102886890T>C	ExAC,gnomAD
COSM1688140	p.Met1593Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886886C>T	NCI-TCGA Cosmic
COSM4841177	p.Met1593Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886886C>A	NCI-TCGA Cosmic
COSM266284	p.Met1593Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886888T>G	NCI-TCGA Cosmic
rs756569514	p.Met1593Leu	missense variant	-	NC_000001.11:g.102886888T>A	ExAC,gnomAD
rs746338126	p.Pro1596Leu	missense variant	-	NC_000001.11:g.102886878G>A	ExAC,gnomAD
rs781775130	p.Met1597Val	missense variant	-	NC_000001.11:g.102886876T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1598Asp	missense variant	-	NC_000001.11:g.102886872C>T	NCI-TCGA
rs757388014	p.Gly1598Ser	missense variant	-	NC_000001.11:g.102886873C>T	ExAC,gnomAD
rs751745544	p.Thr1599Ile	missense variant	-	NC_000001.11:g.102886869G>A	NCI-TCGA
rs751745544	p.Thr1599Ile	missense variant	-	NC_000001.11:g.102886869G>A	ExAC,gnomAD
rs1022306561	p.Gln1600Glu	missense variant	-	NC_000001.11:g.102886867G>C	TOPMed
RCV000439022	p.Thr1601Asn	missense variant	-	NC_000001.11:g.102886863G>T	ClinVar
rs143206624	p.Thr1601Asn	missense variant	-	NC_000001.11:g.102886863G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143206624	p.Thr1601Ile	missense variant	-	NC_000001.11:g.102886863G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs75495145	p.Asn1602Ser	missense variant	-	NC_000001.11:g.102886860T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs75495145	p.Asn1602Thr	missense variant	-	NC_000001.11:g.102886860T>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000397331	p.Asn1602Ser	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102886860T>C	ClinVar
RCV000295104	p.Asn1602Ser	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102886860T>C	ClinVar
RCV000352398	p.Asn1602Ser	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102886860T>C	ClinVar
rs1401981859	p.Pro1603Ala	missense variant	-	NC_000001.11:g.102886858G>C	gnomAD
NCI-TCGA novel	p.Ala1604Ser	missense variant	-	NC_000001.11:g.102886855C>A	NCI-TCGA
NCI-TCGA novel	p.Ala1604Asp	missense variant	-	NC_000001.11:g.102886854G>T	NCI-TCGA
rs371100196	p.Arg1605Gln	missense variant	-	NC_000001.11:g.102886851C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1162597563	p.Arg1605Ter	stop gained	-	NC_000001.11:g.102886852G>A	gnomAD
rs371100196	p.Arg1605Gln	missense variant	-	NC_000001.11:g.102886851C>T	ESP,ExAC,TOPMed,gnomAD
rs371100196	p.Arg1605Leu	missense variant	-	NC_000001.11:g.102886851C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1609Tyr	missense variant	-	NC_000001.11:g.102886840C>A	NCI-TCGA
COSM6120292	p.Leu1610Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886837G>T	NCI-TCGA Cosmic
COSM3470422	p.His1614Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886825G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.His1614GlyProGlnLysGluProThrLeuLeuThrProCysSerArgThrSerSerHis	insertion	-	NC_000001.11:g.102886822_102886823insATGGCTAGAAGTCCTAGAACAAGGTGTCAGCAGTGTTGGTTCCTTCTGAGGTCC	NCI-TCGA
COSM674668	p.Pro1615His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102886821G>T	NCI-TCGA Cosmic
rs1449189271	p.Phe1617Leu	missense variant	-	NC_000001.11:g.102886814G>C	gnomAD
rs1449189271	p.Phe1617Leu	missense variant	-	NC_000001.11:g.102886814G>T	gnomAD
rs1240915709	p.Asp1619Gly	missense variant	-	NC_000001.11:g.102886809T>C	gnomAD
rs1226298528	p.Gly1620Cys	missense variant	-	NC_000001.11:g.102886807C>A	TOPMed
rs769627169	p.Glu1621Gly	missense variant	-	NC_000001.11:g.102883308T>C	ExAC
COSM4019960	p.Glu1621Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102883309C>T	NCI-TCGA Cosmic
COSM3470420	p.Trp1623Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102883303A>G	NCI-TCGA Cosmic
rs78368739	p.Asp1625Tyr	missense variant	-	NC_000001.11:g.102883297C>A	ExAC,gnomAD
rs78368739	p.Asp1625Asn	missense variant	-	NC_000001.11:g.102883297C>T	ExAC,gnomAD
rs377036654	p.Pro1626Ser	missense variant	-	NC_000001.11:g.102883294G>A	ESP,ExAC,TOPMed,gnomAD
RCV000659327	p.Pro1626Ser	missense variant	Connective tissue disorder	NC_000001.11:g.102883294G>A	ClinVar
rs1478740175	p.Gln1628Pro	missense variant	-	NC_000001.11:g.102883287T>G	TOPMed
rs771436179	p.Gly1629Cys	missense variant	-	NC_000001.11:g.102883285C>A	ExAC,gnomAD
rs372504909	p.Gly1629Val	missense variant	-	NC_000001.11:g.102883284C>A	ESP,TOPMed
COSM4402576	p.Gly1632Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102883276C>T	NCI-TCGA Cosmic
rs1303443553	p.Asp1633Asn	missense variant	-	NC_000001.11:g.102883273C>T	TOPMed,gnomAD
RCV000387059	p.Lys1636Glu	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102883264T>C	ClinVar
RCV000282423	p.Lys1636Glu	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102883264T>C	ClinVar
RCV000330395	p.Lys1636Glu	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102883264T>C	ClinVar
rs886044973	p.Lys1636Glu	missense variant	-	NC_000001.11:g.102883264T>C	TOPMed
rs1441045737	p.Lys1636Asn	missense variant	-	NC_000001.11:g.102883262T>A	gnomAD
rs886044973	p.Lys1636Gln	missense variant	-	NC_000001.11:g.102883264T>G	TOPMed
NCI-TCGA novel	p.Val1637Asp	missense variant	-	NC_000001.11:g.102883260A>T	NCI-TCGA
rs1173031118	p.Thr1642Ile	missense variant	-	NC_000001.11:g.102883245G>A	TOPMed,gnomAD
rs772011676	p.Ser1643Cys	missense variant	-	NC_000001.11:g.102883242G>C	ExAC,gnomAD
rs1323227249	p.Ser1643Pro	missense variant	-	NC_000001.11:g.102883243A>G	TOPMed
rs1224491443	p.Gly1645Ser	missense variant	-	NC_000001.11:g.102883237C>T	gnomAD
COSM6057243	p.Glu1646Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102883234C>A	NCI-TCGA Cosmic
rs1481500191	p.Glu1646Asp	missense variant	-	NC_000001.11:g.102883232C>G	TOPMed,gnomAD
rs779106317	p.Ile1649Val	missense variant	-	NC_000001.11:g.102883225T>C	ExAC,gnomAD
rs184088500	p.Tyr1650Phe	missense variant	-	NC_000001.11:g.102883221T>A	1000Genomes,ESP,ExAC,gnomAD
NCI-TCGA novel	p.Pro1651Ser	missense variant	-	NC_000001.11:g.102883219G>A	NCI-TCGA
rs1282435873	p.Asp1652Tyr	missense variant	-	NC_000001.11:g.102883216C>A	gnomAD
rs1282435873	p.Asp1652Asn	missense variant	-	NC_000001.11:g.102883216C>T	gnomAD
rs1276832651	p.Lys1653Glu	missense variant	-	NC_000001.11:g.102883213T>C	TOPMed
NCI-TCGA novel	p.Lys1654Gln	missense variant	-	NC_000001.11:g.102883210T>G	NCI-TCGA
COSM6120294	p.Glu1656Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102883204C>A	NCI-TCGA Cosmic
rs780916396	p.Gly1657Arg	missense variant	-	NC_000001.11:g.102883201C>T	ExAC
NCI-TCGA novel	p.Val1658Leu	missense variant	-	NC_000001.11:g.102881765C>A	NCI-TCGA
COSM1953779	p.Ser1661Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881755G>A	NCI-TCGA Cosmic
COSM4946935	p.Ser1662Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881753A>T	NCI-TCGA Cosmic
COSM527042	p.Ser1662Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102881752G>T	NCI-TCGA Cosmic
rs956233074	p.Ser1662Leu	missense variant	-	NC_000001.11:g.102881752G>A	TOPMed
COSM674672	p.Trp1663Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881748C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp1663Leu	missense variant	-	NC_000001.11:g.102881749C>A	NCI-TCGA
NCI-TCGA novel	p.Trp1663Ter	stop gained	-	NC_000001.11:g.102881748C>T	NCI-TCGA
NCI-TCGA novel	p.Lys1665Asn	missense variant	-	NC_000001.11:g.102881742C>A	NCI-TCGA
COSM1332112	p.Glu1666Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881739C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1666Lys	missense variant	-	NC_000001.11:g.102881741C>T	NCI-TCGA
COSM6120296	p.Pro1668Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881735G>T	NCI-TCGA Cosmic
RCV000322956	p.Pro1668Leu	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102881734G>A	ClinVar
RCV000265566	p.Pro1668Leu	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102881734G>A	ClinVar
RCV000361283	p.Pro1668Leu	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102881734G>A	ClinVar
rs541676352	p.Pro1668Leu	missense variant	-	NC_000001.11:g.102881734G>A	1000Genomes,ExAC,gnomAD
rs1223983975	p.Pro1668Ala	missense variant	-	NC_000001.11:g.102881735G>C	gnomAD
rs1223983975	p.Pro1668Ser	missense variant	-	NC_000001.11:g.102881735G>A	gnomAD
NCI-TCGA novel	p.Gly1669Glu	missense variant	-	NC_000001.11:g.102881731C>T	NCI-TCGA
rs1313374505	p.Ser1670Ile	missense variant	-	NC_000001.11:g.102881728C>A	gnomAD
rs746882221	p.Trp1671Cys	missense variant	-	NC_000001.11:g.102881724C>A	ExAC,gnomAD
rs1222967794	p.Ser1673Arg	missense variant	-	NC_000001.11:g.102881720T>G	TOPMed
COSM893094	p.Glu1674Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102881717C>A	NCI-TCGA Cosmic
COSM1667755	p.Phe1675Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881713A>C	NCI-TCGA Cosmic
COSM1688134	p.Gly1678Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102881704C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu1684Phe	missense variant	-	NC_000001.11:g.102879905T>A	NCI-TCGA
rs1289194467	p.Leu1684Phe	missense variant	-	NC_000001.11:g.102879905T>G	gnomAD
COSM5117290	p.Asp1685Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879904C>A	NCI-TCGA Cosmic
rs1224243338	p.Val1686Ala	missense variant	-	NC_000001.11:g.102879900A>G	gnomAD
rs769774427	p.Gly1688Arg	missense variant	-	NC_000001.11:g.102879895C>T	ExAC,gnomAD
rs146837973	p.Ser1690Pro	missense variant	-	NC_000001.11:g.102879889A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1691Thr	missense variant	-	NC_000001.11:g.102879885A>G	NCI-TCGA
rs776745225	p.Ile1691Met	missense variant	-	NC_000001.11:g.102879884G>C	ExAC,gnomAD
rs771869146	p.Asn1692Ile	missense variant	-	NC_000001.11:g.102879882T>A	ExAC
rs375417316	p.Met1693Val	missense variant	-	NC_000001.11:g.102879880T>C	ESP,TOPMed,gnomAD
rs1404456235	p.Val1694Ala	missense variant	-	NC_000001.11:g.102879876A>G	gnomAD
rs1279366824	p.Val1694Met	missense variant	-	NC_000001.11:g.102879877C>T	gnomAD
rs778979098	p.Met1696Ile	missense variant	-	NC_000001.11:g.102879869C>A	ExAC,TOPMed,gnomAD
COSM4019956	p.Thr1697Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879868T>C	NCI-TCGA Cosmic
rs768649832	p.Phe1698Leu	missense variant	-	NC_000001.11:g.102879863G>T	ExAC,TOPMed,gnomAD
rs749253142	p.Lys1700Thr	missense variant	-	NC_000001.11:g.102879858T>G	ExAC,gnomAD
COSM893092	p.Leu1701Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879855A>C	NCI-TCGA Cosmic
rs779569161	p.Leu1701Phe	missense variant	-	NC_000001.11:g.102879856G>A	ExAC,gnomAD
rs1460230830	p.Thr1703Ser	missense variant	-	NC_000001.11:g.102879849G>C	gnomAD
COSM6120298	p.Ala1704Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879846G>T	NCI-TCGA Cosmic
rs755611133	p.Ala1704Thr	missense variant	-	NC_000001.11:g.102879847C>T	ExAC,TOPMed,gnomAD
rs1171259574	p.Ser1705Thr	missense variant	-	NC_000001.11:g.102879844A>T	gnomAD
rs780760098	p.Ala1706Val	missense variant	-	NC_000001.11:g.102879840G>A	ExAC,gnomAD
rs750062798	p.Ala1706Thr	missense variant	-	NC_000001.11:g.102879841C>T	ExAC,TOPMed,gnomAD
rs751989395	p.Arg1707Gln	missense variant	-	NC_000001.11:g.102879837C>T	ExAC,TOPMed,gnomAD
rs757608461	p.Arg1707Trp	missense variant	-	NC_000001.11:g.102879838G>A	ExAC,TOPMed,gnomAD
COSM4019954	p.Asn1709His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879832T>G	NCI-TCGA Cosmic
COSM1332108	p.Asn1709IlePheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102879831T>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn1709Lys	missense variant	-	NC_000001.11:g.102879830A>C	NCI-TCGA
COSM1248713	p.Phe1710Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879829A>C	NCI-TCGA Cosmic
rs1249324579	p.Phe1710Ser	missense variant	-	NC_000001.11:g.102879828A>G	gnomAD
rs139920081	p.Thr1711Ile	missense variant	-	NC_000001.11:g.102879825G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764443866	p.Thr1711Pro	missense variant	-	NC_000001.11:g.102879826T>G	ExAC,gnomAD
rs199576799	p.His1715Leu	missense variant	-	NC_000001.11:g.102879813T>A	ExAC,TOPMed,gnomAD
rs1243948692	p.Gln1716Glu	missense variant	-	NC_000001.11:g.102879811G>C	TOPMed
rs1321965694	p.Ser1717Thr	missense variant	-	NC_000001.11:g.102879808A>T	gnomAD
rs1285281134	p.Ala1718Val	missense variant	-	NC_000001.11:g.102879804G>A	gnomAD
rs759574079	p.Ala1719Gly	missense variant	-	NC_000001.11:g.102879801G>C	ExAC,TOPMed,gnomAD
rs1280105242	p.Ala1719Ser	missense variant	-	NC_000001.11:g.102879802C>A	TOPMed
COSM3470416	p.Trp1720Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102879798C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp1720Arg	missense variant	-	NC_000001.11:g.102879799A>T	NCI-TCGA
rs1266404176	p.Asp1722Asn	missense variant	-	NC_000001.11:g.102879793C>T	TOPMed
rs776889654	p.Val1723Gly	missense variant	-	NC_000001.11:g.102879789A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1724Ter	stop gained	-	NC_000001.11:g.102879786G>T	NCI-TCGA
COSM1172001	p.Ser1727Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879778T>G	NCI-TCGA Cosmic
rs1389498908	p.Tyr1728Cys	missense variant	-	NC_000001.11:g.102879774T>C	TOPMed,gnomAD
rs924463224	p.Ala1731Thr	missense variant	-	NC_000001.11:g.102879766C>T	TOPMed
RCV000271060	p.Arg1733His	missense variant	Stickler Syndrome, Dominant	NC_000001.11:g.102879759C>T	ClinVar
NCI-TCGA novel	p.Arg1733Leu	missense variant	-	NC_000001.11:g.102879759C>A	NCI-TCGA
RCV000309814	p.Arg1733His	missense variant	Marshall syndrome (MRSHS)	NC_000001.11:g.102879759C>T	ClinVar
RCV000179660	p.Arg1733His	missense variant	-	NC_000001.11:g.102879759C>T	ClinVar
RCV000357636	p.Arg1733His	missense variant	Fibrochondrogenesis (FBCG1)	NC_000001.11:g.102879759C>T	ClinVar
rs761693797	p.Arg1733Cys	missense variant	-	NC_000001.11:g.102879760G>A	ExAC,TOPMed,gnomAD
rs140250347	p.Arg1733His	missense variant	-	NC_000001.11:g.102879759C>T	ESP,ExAC,TOPMed,gnomAD
COSM5083881	p.Gly1736Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102879751C>A	NCI-TCGA Cosmic
rs866215170	p.Gly1736Glu	missense variant	-	NC_000001.11:g.102879750C>T	-
COSM893088	p.Ser1737Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879748A>C	NCI-TCGA Cosmic
rs1156335902	p.Ser1737Ter	stop gained	-	NC_000001.11:g.102879747G>C	TOPMed
rs1410685406	p.Glu1740Asp	missense variant	-	NC_000001.11:g.102879737C>A	TOPMed
NCI-TCGA novel	p.Glu1741Gln	missense variant	-	NC_000001.11:g.102879736C>G	NCI-TCGA
rs370598483	p.Glu1741Asp	missense variant	-	NC_000001.11:g.102879734C>G	ESP,ExAC,TOPMed,gnomAD
rs1177996327	p.Glu1741Lys	missense variant	-	NC_000001.11:g.102879736C>T	gnomAD
rs768596501	p.Glu1741Gly	missense variant	-	NC_000001.11:g.102879735T>C	ExAC,TOPMed,gnomAD
rs768596501	p.Glu1741Ala	missense variant	-	NC_000001.11:g.102879735T>G	ExAC,TOPMed,gnomAD
rs1179221276	p.Met1742Ile	missense variant	-	NC_000001.11:g.102879731C>T	gnomAD
rs1399753907	p.Ser1743Phe	missense variant	-	NC_000001.11:g.102879729G>A	TOPMed
rs769329430	p.Tyr1744Cys	missense variant	-	NC_000001.11:g.102879726T>C	ExAC,gnomAD
rs769329430	p.Tyr1744Phe	missense variant	-	NC_000001.11:g.102879726T>A	ExAC,gnomAD
rs780895611	p.Asn1746Ser	missense variant	-	NC_000001.11:g.102879720T>C	ExAC,gnomAD
rs745431051	p.Asn1746Asp	missense variant	-	NC_000001.11:g.102879721T>C	ExAC,gnomAD
COSM5377058	p.Pro1748Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879714G>A	NCI-TCGA Cosmic
COSM1320201	p.Ile1750Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879708A>C	NCI-TCGA Cosmic
rs544444081	p.Lys1751Asn	missense variant	-	NC_000001.11:g.102879704T>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM5143754	p.Thr1752Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102879702G>T	NCI-TCGA Cosmic
rs746676128	p.Thr1752Ile	missense variant	-	NC_000001.11:g.102879702G>A	ExAC,gnomAD
rs1350002806	p.Leu1753Pro	missense variant	-	NC_000001.11:g.102879699A>G	TOPMed,gnomAD
rs778059956	p.Tyr1754Cys	missense variant	-	NC_000001.11:g.102879696T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp1755Tyr	missense variant	-	NC_000001.11:g.102879694C>A	NCI-TCGA
RCV000319720	p.Ala1758Val	missense variant	-	NC_000001.11:g.102879684G>A	ClinVar
rs1337474708	p.Ala1758Thr	missense variant	-	NC_000001.11:g.102879685C>T	TOPMed
rs202065765	p.Ala1758Glu	missense variant	-	NC_000001.11:g.102879684G>T	ExAC,TOPMed,gnomAD
rs202065765	p.Ala1758Val	missense variant	-	NC_000001.11:g.102879684G>A	ExAC,TOPMed,gnomAD
COSM4914501	p.Ser1759Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878164G>T	NCI-TCGA Cosmic
rs367853741	p.Ser1759Pro	missense variant	-	NC_000001.11:g.102878165A>G	ESP,ExAC,TOPMed,gnomAD
COSM3417793	p.Arg1760Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878161C>A	NCI-TCGA Cosmic
rs1420937590	p.Arg1760Gly	missense variant	-	NC_000001.11:g.102878162T>C	gnomAD
COSM6057247	p.Lys1761Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878157T>A	NCI-TCGA Cosmic
rs766529064	p.Gly1762Ser	missense variant	-	NC_000001.11:g.102878156C>T	ExAC,TOPMed,gnomAD
rs766529064	p.Gly1762Arg	missense variant	-	NC_000001.11:g.102878156C>G	ExAC,TOPMed,gnomAD
COSM364893	p.Glu1764Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102878150C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1764Gly	missense variant	-	NC_000001.11:g.102878149T>C	NCI-TCGA
NCI-TCGA novel	p.Glu1764Asp	missense variant	-	NC_000001.11:g.102878148T>G	NCI-TCGA
COSM3801079	p.Lys1765Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878145C>G	NCI-TCGA Cosmic
rs1416391659	p.Lys1765Arg	missense variant	-	NC_000001.11:g.102878146T>C	gnomAD
rs1182745575	p.Ile1768Phe	missense variant	-	NC_000001.11:g.102878138T>A	gnomAD
rs1475376265	p.Ile1768Thr	missense variant	-	NC_000001.11:g.102878137A>G	gnomAD
rs1240823477	p.Glu1769Lys	missense variant	-	NC_000001.11:g.102878135C>T	gnomAD
rs1195447527	p.Asn1771Thr	missense variant	-	NC_000001.11:g.102878128T>G	TOPMed,gnomAD
rs1195447527	p.Asn1771Ser	missense variant	-	NC_000001.11:g.102878128T>C	TOPMed,gnomAD
rs750652823	p.Pro1773Thr	missense variant	-	NC_000001.11:g.102878123G>T	ExAC,TOPMed,gnomAD
rs750652823	p.Pro1773Ser	missense variant	-	NC_000001.11:g.102878123G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1774Asn	missense variant	-	NC_000001.11:g.102878118T>G	NCI-TCGA
rs1268535546	p.Ile1775Thr	missense variant	-	NC_000001.11:g.102878116A>G	gnomAD
NCI-TCGA novel	p.Gln1777His	missense variant	-	NC_000001.11:g.102878109T>A	NCI-TCGA
rs762806617	p.Gln1777Glu	missense variant	-	NC_000001.11:g.102878111G>C	ExAC,gnomAD
COSM4673475	p.Val1778Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878108C>A	NCI-TCGA Cosmic
rs991011471	p.Val1778Ile	missense variant	-	NC_000001.11:g.102878108C>T	TOPMed
rs1291771601	p.Pro1779Leu	missense variant	-	NC_000001.11:g.102878104G>A	gnomAD
NCI-TCGA novel	p.Asp1782Tyr	missense variant	-	NC_000001.11:g.102878096C>A	NCI-TCGA
NCI-TCGA novel	p.Asp1782His	missense variant	-	NC_000001.11:g.102878096C>G	NCI-TCGA
rs1228637510	p.Asp1782Val	missense variant	-	NC_000001.11:g.102878095T>A	gnomAD
rs775083694	p.Val1783Ile	missense variant	-	NC_000001.11:g.102878093C>T	ExAC
rs1275054845	p.Met1784Thr	missense variant	-	NC_000001.11:g.102878089A>G	TOPMed,gnomAD
rs1268319757	p.Asn1786Ser	missense variant	-	NC_000001.11:g.102878083T>C	gnomAD
COSM4823076	p.Asp1787Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878080T>G	NCI-TCGA Cosmic
rs144510951	p.Asp1787Asn	missense variant	-	NC_000001.11:g.102878081C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe1788Leu	missense variant	-	NC_000001.11:g.102878078A>G	NCI-TCGA
rs571497194	p.Phe1788Val	missense variant	-	NC_000001.11:g.102878078A>C	1000Genomes,ExAC,gnomAD
rs1450665292	p.Phe1788Ser	missense variant	-	NC_000001.11:g.102878077A>G	TOPMed
rs1302207968	p.Gly1789Ser	missense variant	-	NC_000001.11:g.102878075C>T	gnomAD
rs1302207968	p.Gly1789Cys	missense variant	-	NC_000001.11:g.102878075C>A	gnomAD
rs1351190778	p.Gln1791Arg	missense variant	-	NC_000001.11:g.102878068T>C	gnomAD
rs1165964060	p.Gln1791His	missense variant	-	NC_000001.11:g.102878067C>G	gnomAD
rs1409700354	p.Gln1793Glu	missense variant	-	NC_000001.11:g.102878063G>C	gnomAD
NCI-TCGA novel	p.Gly1796Glu	missense variant	-	NC_000001.11:g.102878053C>T	NCI-TCGA
rs925433052	p.Gly1796Arg	missense variant	-	NC_000001.11:g.102878054C>T	TOPMed,gnomAD
COSM893084	p.Phe1797Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878051A>T	NCI-TCGA Cosmic
rs1478223213	p.Phe1797Ser	missense variant	-	NC_000001.11:g.102878050A>G	gnomAD
COSM674676	p.Glu1798Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000001.11:g.102878048C>T	NCI-TCGA Cosmic
rs958368134	p.Gly1800Ser	missense variant	-	NC_000001.11:g.102878042C>T	gnomAD
rs958368134	p.Gly1800Cys	missense variant	-	NC_000001.11:g.102878042C>A	gnomAD
rs772836164	p.Pro1801Ala	missense variant	-	NC_000001.11:g.102878039G>C	ExAC,TOPMed,gnomAD
rs772836164	p.Pro1801Ser	missense variant	-	NC_000001.11:g.102878039G>A	ExAC,TOPMed,gnomAD
rs1247463879	p.Pro1801Leu	missense variant	-	NC_000001.11:g.102878038G>A	gnomAD
rs747838552	p.Phe1804Leu	missense variant	-	NC_000001.11:g.102878028A>T	ExAC,gnomAD
rs546905537	p.Phe1804Leu	missense variant	-	NC_000001.11:g.102878030A>G	1000Genomes,ExAC,gnomAD
rs779088327	p.Leu1805His	missense variant	-	NC_000001.11:g.102878026A>T	ExAC,TOPMed,gnomAD
rs769098402	p.Gly1806Cys	missense variant	-	NC_000001.11:g.102878024C>A	ExAC,gnomAD
rs769098402	p.Gly1806Ser	missense variant	-	NC_000001.11:g.102878024C>T	ExAC,gnomAD
COSM3728749	p.Ter1807TyrGluUnkThrTerUnk	stop lost	Variant assessed as Somatic; HIGH impact.	NC_000001.11:g.102878019T>G	NCI-TCGA Cosmic

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0001430	Adenoma	group	BEFREE;LHGDN
C0002418	Amblyopia	phenotype	HPO
C0003706	Arachnodactyly	disease	HPO
C0003862	Arthralgia	phenotype	HPO
C0004106	Astigmatism	disease	HPO
C0005890	Body Height	phenotype	GWASDB
C0005940	Bone Diseases	group	RGD
C0006142	Malignant neoplasm of breast	disease	BEFREE;UNIPROT
C0007124	Noninfiltrating Intraductal Carcinoma	disease	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0008925	Cleft Palate	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009404	Colorectal Neoplasms	group	BEFREE
C0009691	Congenital cataract	disease	HPO
C0010038	Corneal Opacity	phenotype	HPO
C0010093	Corpus Luteum Cyst	disease	CTD_human
C0013366	Dyschondroplasias	disease	CTD_human
C0013581	Ectopia Lentis	disease	HPO
C0013720	Ehlers-Danlos Syndrome	disease	GENOMICS_ENGLAND
C0014877	Esotropia	disease	HPO
C0015300	Exophthalmos	disease	HPO
C0015927	Fetal Death	phenotype	HPO
C0016522	Foramen Ovale, Patent	disease	HPO
C0017601	Glaucoma	disease	BEFREE;GWASCAT;GWASDB;HPO
C0017605	Angle Closure Glaucoma	disease	BEFREE;CTD_human;GWASCAT
C0017606	Primary angle-closure glaucoma	disease	BEFREE;GWASCAT
C0017636	Glioblastoma	disease	BEFREE
C0017638	Glioma	disease	BEFREE
C0018681	Headache	phenotype	BEFREE
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0019270	Hernia	phenotype	BEFREE
C0020305	Hydrops Fetalis	disease	HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0020620	Hypohidrosis	disease	HPO
C0020678	Hypotrichosis	disease	HPO
C0021818	Intervertebral Disk Displacement	disease	CTD_human
C0022408	Arthropathy	group	HPO
C0022548	Keloid	phenotype	BEFREE
C0023309	Lens dislocation	phenotype	HPO
C0025237	Melnick-Needles Syndrome	disease	CTD_human
C0025990	Micrognathism	disease	HPO
C0025995	Micromelia	disease	HPO
C0026034	Microstomia	disease	HPO
C0026760	Multiple Epiphyseal Dysplasia	disease	CTD_human
C0027092	Myopia	disease	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0029408	Degenerative polyarthritis	disease	BEFREE;HPO
C0029410	Osteoarthritis of hip	disease	BEFREE
C0029422	Osteochondrodysplasias	group	BEFREE;CTD_human
C0029434	Osteogenesis Imperfecta	disease	GENOMICS_ENGLAND
C0029925	Ovarian Carcinoma	disease	BEFREE
C0029927	Ovarian Cysts	disease	CTD_human
C0030193	Pain	phenotype	BEFREE
C0031900	Pierre Robin Syndrome	disease	BEFREE;HPO
C0032580	Adenomatous Polyposis Coli	disease	BEFREE;LHGDN
C0032584	polyps	phenotype	BEFREE
C0035229	Respiratory Insufficiency	phenotype	HPO
C0035305	Retinal Detachment	disease	HPO
C0035309	Retinal Diseases	group	HPO
C0036391	Schwartz-Jampel Syndrome	disease	CTD_human
C0038015	Spondyloepiphyseal Dysplasia	disease	CTD_human;HPO
C0042798	Low Vision	disease	HPO
C0086543	Cataract	disease	GENOMICS_ENGLAND;HPO
C0149521	Pancreatitis, Chronic	disease	BEFREE
C0151526	Premature Birth	phenotype	HPO
C0155366	Vitreous degeneration	disease	BEFREE
C0157946	Osteoarthrosis, localized, not specified whether primary or secondary	disease	MGD
C0158113	Contracture of joint of hand	phenotype	HPO
C0158252	Intervertebral disc disorder	group	CTD_human
C0162872	Aortic Aneurysm, Thoracic	disease	GENOMICS_ENGLAND
C0178874	Tumor Progression	phenotype	BEFREE
C0202236	Triglycerides measurement	phenotype	GWASDB
C0221354	Frontal bossing	disease	HPO
C0221356	Brachycephaly	disease	HPO
C0221357	Brachydactyly	disease	HPO
C0221775	Lumbar disc disease	disease	CTD_human
C0235974	Pancreatic carcinoma	disease	BEFREE
C0239137	Coxa valga	phenotype	HPO
C0239234	Low set ears	phenotype	HPO
C0239479	Round face	phenotype	HPO
C0240310	Hypoplasia of the maxilla	disease	HPO
C0262444	Abnormality of the dentition	phenotype	HPO
C0265235	Marshall syndrome	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C0265253	Stickler syndrome (disorder)	disease	BEFREE
C0265282	Fibrochondrogenesis	disease	BEFREE;CLINVAR;CTD_human;ORPHANET
C0266122	Cleft uvula	disease	HPO
C0267048	Glossoptosis	disease	HPO
C0270685	Cerebral calcification	phenotype	HPO
C0271183	Severe myopia	disease	BEFREE;HPO
C0338106	Adenocarcinoma of colon	disease	BEFREE
C0343284	Chondrodysplasia	disease	BEFREE
C0344290	Vitreoretinal degeneration	disease	HPO
C0344530	Congenital keratoglobus	disease	HPO
C0345050	Congenital aneurysm of ascending aorta	disease	GENOMICS_ENGLAND
C0345375	Congenital hypoplasia of femur	disease	HPO
C0346647	Malignant neoplasm of pancreas	disease	BEFREE
C0349588	Short stature	phenotype	HPO
C0376634	Craniofacial Abnormalities	group	CTD_human
C0392476	Epiphyseal dysplasia	disease	HPO
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0426790	Narrow thorax	phenotype	HPO
C0426808	Long clavicle	phenotype	HPO
C0426817	Short ribs	phenotype	HPO
C0426818	Thin rib	phenotype	HPO
C0431483	Simple ear	phenotype	HPO
C0432211	Spondyloepimetaphyseal disorder	disease	BEFREE
C0432272	Van Buchem disease	disease	CTD_human
C0521525	Short neck	phenotype	HPO
C0521719	Clouding of corneal stroma	disease	HPO
C0553721	Diminished sweating	phenotype	HPO
C0566888	Narrow sacrosciatic notch	phenotype	HPO
C0575535	Thin clavicle	phenotype	HPO
C0575802	Small hand	phenotype	HPO
C0576093	Knee joint valgus deformity	phenotype	HPO
C0576962	Tooth problem	phenotype	HPO
C0595939	Stillbirth	phenotype	HPO
C0596263	Carcinogenesis	phenotype	BEFREE
C0678222	Breast Carcinoma	disease	BEFREE
C0678230	Congenital Epicanthus	disease	HPO
C0685409	Congenital Camptodactyly	disease	HPO
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0740852	Upper airway obstruction	phenotype	HPO
C0751688	Malignant Squamous Cell Neoplasm	disease	BEFREE
C0795690	Congenital omphalocele	disease	HPO
C0857379	Abnormality of the pinna	phenotype	HPO
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1140680	Malignant neoplasm of ovary	disease	BEFREE
C1167712	Corneal diameter increased	phenotype	HPO
C1168401	Squamous cell carcinoma of the head and neck	disease	BEFREE
C1319315	Adenocarcinoma of large intestine	disease	BEFREE
C1334274	Invasive Carcinoma	phenotype	BEFREE
C1397139	Calcification of falx cerebri	disease	HPO
C1449563	Cardiomyopathy, Familial Idiopathic	disease	BEFREE
C1510497	Lens Opacities	phenotype	HPO
C1511789	Desmoplastic	disease	BEFREE
C1527249	Colorectal Cancer	disease	BEFREE
C1832119	Fibular hypoplasia	phenotype	HPO
C1835095	Macrodontia of permanent maxillary central incisor	phenotype	HPO
C1835101	Wide tufts of distal phalanges	phenotype	HPO
C1836542	Depressed nasal bridge	phenotype	HPO
C1836868	Broad ischia	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE
C1837279	Hypoplastic toenails	phenotype	HPO
C1837482	Thoracic hypoplasia	disease	HPO
C1837483	Posterior rib cupping	phenotype	HPO
C1837760	Prominent eyes	phenotype	HPO
C1839326	Abnormal form of the vertebral bodies	phenotype	HPO
C1839739	Thick lower lip vermilion	phenotype	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1840452	Hyaloideoretinal degeneration of Wagner	disease	BEFREE
C1842153	Irregular vertebral endplates	phenotype	HPO
C1843108	Short palm	phenotype	HPO
C1844704	Platyspondyly	phenotype	HPO
C1844820	Range of joint movement increased	phenotype	HPO
C1846154	Anterior rib cupping	phenotype	HPO
C1846423	Thick upper lip vermilion	phenotype	HPO
C1846434	Hypoplastic scapulae	phenotype	HPO
C1848488	Pierre Robin syndrome with fetal chondrodysplasia	disease	MGD
C1848490	Protruding eyes	phenotype	HPO
C1848654	Broad ribs	phenotype	HPO
C1848673	Hypoplastic feet	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1853241	Flat face	phenotype	HPO
C1853242	Midface retrusion	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1854912	Short long bone	phenotype	HPO
C1854928	Protuberant abdomen	phenotype	HPO
C1855669	Absent frontal sinuses	phenotype	HPO
C1856468	Round, full face	phenotype	HPO
C1856778	Widely patent coronal suture	phenotype	HPO
C1856779	Widely patent sagittal suture	phenotype	HPO
C1856780	Posterior vertebral hypoplasia	phenotype	HPO
C1856786	Hypoplastic fingernail	phenotype	HPO
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1858084	STICKLER SYNDROME, TYPE II (disorder)	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C1858085	Malar flattening	phenotype	HPO
C1858091	Long fingers	phenotype	HPO
C1858452	Thickened calvaria	phenotype	HPO
C1859399	Radial bowing	phenotype	HPO
C1859447	Hypoplastic ischia	phenotype	HPO
C1859461	Femoral bowing	phenotype	HPO
C1859682	Hypoplastic frontal sinuses	phenotype	HPO
C1861218	Hypoplastic ilia	phenotype	HPO
C1862425	Prominent globes	phenotype	HPO
C1865014	Long philtrum	phenotype	HPO
C1865186	Bell-shaped thorax	phenotype	HPO
C1865847	Ulnar bowing	phenotype	HPO
C1866134	Wide anterior fontanel	phenotype	HPO
C1866730	Rhizomelia	disease	HPO
C1961102	Precursor Cell Lymphoblastic Leukemia Lymphoma	disease	GWASCAT
C2020284	Stickler syndrome, type 1	disease	BEFREE;MGD;ORPHANET
C2053437	Full lower lip	phenotype	HPO
C2673410	Small midface	phenotype	HPO
C2749582	Dumbbell-shaped long bone	phenotype	HPO
C2751492	AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED	disease	BEFREE
C2981150	Uranostaphyloschisis	disease	BEFREE;HPO
C3277059	Congenital Bilateral Cataracts	disease	HPO
C3278138	FIBROCHONDROGENESIS 1	disease	UNIPROT
C3541456	Spondyloepiphyseal Dysplasia Tarda, X-Linked	disease	CTD_human
C3549698	Coxa valga deformity	phenotype	HPO
C3550546	Depressed nasal root/bridge	phenotype	HPO
C3553764	Joint hyperflexibility	phenotype	HPO
C3665347	Visual Impairment	phenotype	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C3840085	Disorder of Achilles tendon	disease	BEFREE
C3854333	Narrowing	phenotype	BEFREE
C4015965	MARSHALL/STICKLER SYNDROME	phenotype	CLINVAR
C4020855	Respiratory function loss	phenotype	HPO
C4021242	Hypoplasia of the zygomatic bone	phenotype	HPO
C4021630	Broad long bones	phenotype	HPO
C4021787	Abnormal diaphysis morphology	phenotype	HPO
C4022181	Meningeal calcification	phenotype	HPO
C4022969	Small proximal tibial epiphyses	phenotype	HPO
C4022970	Small distal femoral epiphysis	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4025045	Irregular proximal tibial epiphyses	phenotype	HPO
C4025050	Irregular distal femoral epiphysis	phenotype	HPO
C4025356	Abnormality of the vitreous humor	phenotype	HPO
C4025814	Abnormality of the metaphysis	phenotype	HPO
C4025860	Hearing abnormality	phenotype	HPO
C4072823	Broad cranium shape	phenotype	HPO
C4072824	Wide skull shape	phenotype	HPO
C4072879	Small cheekbone	phenotype	HPO
C4082167	Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis Syndrome	disease	BEFREE
C4082243	Maxillary retrognathia	phenotype	HPO
C4280263	Increased size of permanent maxillary central incisor	phenotype	HPO
C4280320	Hypotrophic midface	phenotype	HPO
C4280321	Decreased projection of midface	phenotype	HPO
C4280368	Hypotrophic cheekbone	phenotype	HPO
C4280369	Flattening of the zygomatic bone	phenotype	HPO
C4280370	Depressed cheekbone	phenotype	HPO
C4280495	Concave bridge of nose	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280548	Hypotrophic frontal sinus	phenotype	HPO
C4280549	Decreased pneumatization of frontal sinus	phenotype	HPO
C4280559	Aplasia of frontal sinus	phenotype	HPO
C4280560	Increased thickness of cranium	phenotype	HPO
C4280566	Abnormal development of end part of bone	phenotype	HPO
C4280607	Small wings of the pelvic girdle	phenotype	HPO
C4280620	Hypertrophy of permanent maxillary central incisor	phenotype	HPO
C4280621	Hyperplasia of permanent maxillary central incisor	phenotype	HPO
C4280640	Retrusion of upper jaw bones	phenotype	HPO
C4280641	Hypotrophic maxilla	phenotype	HPO
C4280642	Deficiency of upper jaw bones	phenotype	HPO
C4280643	Decreased projection of maxilla	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280678	Posterior displacement of the tongue	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005201	extracellular matrix structural constituent	NAS
GO:0005201	extracellular matrix structural constituent	IBA
GO:0008201	heparin binding	IEA
GO:0030020	extracellular matrix structural constituent conferring tensile strength	RCA
GO:0030674	protein binding, bridging	NAS
GO:0046872	metal ion binding	IEA
GO:0050840	extracellular matrix binding	NAS
GO:1904399	heparan sulfate binding	IEA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001502	cartilage condensation	IEA
GO:0001503	ossification	IEA
GO:0002063	chondrocyte development	IEA
GO:0006029	proteoglycan metabolic process	IEA
GO:0007601	visual perception	IMP
GO:0007605	sensory perception of sound	IMP
GO:0030198	extracellular matrix organization	NAS
GO:0030198	extracellular matrix organization	IBA
GO:0030199	collagen fibril organization	NAS
GO:0035987	endodermal cell differentiation	IEP
GO:0035989	tendon development	IEA
GO:0042472	inner ear morphogenesis	IEA
GO:0048704	embryonic skeletal system morphogenesis	IEA
GO:0050910	detection of mechanical stimulus involved in sensory perception of sound	IMP
GO:0055010	ventricular cardiac muscle tissue morphogenesis	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005576	extracellular region	TAS
GO:0005592	collagen type XI trimer	NAS
GO:0005592	collagen type XI trimer	IBA
GO:0005592	collagen type XI trimer	IDA
GO:0005615	extracellular space	IBA
GO:0005788	endoplasmic reticulum lumen	TAS
GO:0031012	extracellular matrix	IBA
GO:0062023	collagen-containing extracellular matrix	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1442490	Collagen degradation	IEA
R-HSA-1442490	Collagen degradation	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-1474290	Collagen formation	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-1650814	Collagen biosynthesis and modifying enzymes	TAS
R-HSA-2022090	Assembly of collagen fibrils and other multimeric structures	TAS
R-HSA-3000171	Non-integrin membrane-ECM interactions	TAS
R-HSA-6806834	Signaling by MET	TAS
R-HSA-8874081	MET activates PTK2 signaling	TAS
R-HSA-8875878	MET promotes cell motility	TAS
R-HSA-8948216	Collagen chain trimerization	TAS
R-HSA-9006934	Signaling by Receptor Tyrosine Kinases	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D015056	1-Methyl-3-isobutylxanthine	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of COL11A1 mRNA	16054899
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of COL11A1 mRNA	24810058
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of COL11A1 mRNA	30723492
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of COL11A1 mRNA	25510870
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of COL11A1 mRNA	19114083
C573693	2-(4-((4-(6-methoxy-3-pyridinyl)-5-(4-(trifluoromethoxy)phenyl)-2-thiazolyl)methoxy)-2-methylphenoxy)acetic acid	2-(4-((4-(6-methoxy-3-pyridinyl)-5-(4-(trifluoromethoxy)phenyl)-2-thiazolyl)methoxy)-2-methylphenoxy)acetic acid results in decreased expression of COL11A1 mRNA	22193206
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of COL11A1 mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of COL11A1 mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of COL11A1 mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of COL11A1 mRNA	25510870
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene results in decreased expression of COL11A1 mRNA	20406850
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of COL11A1 mRNA	30723492
C583074	4,4'-hexafluorisopropylidene diphenol	4,4'-hexafluorisopropylidene diphenol results in increased expression of COL11A1 mRNA	25912373
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of COL11A1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL11A1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL11A1 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL11A1 mRNA	27188386
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased expression of COL11A1 mRNA	22485181
C507011	A-83-01	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of COL11A1 mRNA	31023824
C496492	abrine	abrine results in decreased expression of COL11A1 mRNA	22595364
C014949	acetylhydrazine	acetylhydrazine results in decreased expression of COL11A1 mRNA	15282401
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of COL11A1 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of COL11A1 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of COL11A1 promoter	30157460
C000188	alachlor	alachlor results in increased expression of COL11A1 mRNA	12419858
D019386	Alendronate	Alendronate affects the expression of COL11A1 mRNA	16079270
D000537	Aluminum Oxide	Aluminum Oxide results in increased expression of COL11A1 mRNA	19464052
D000638	Amiodarone	Amiodarone results in increased expression of COL11A1 mRNA	19774075
D000643	Ammonium Chloride	Ammonium Chloride affects the expression of COL11A1 mRNA	16483693
C015001	arsenite	arsenite results in increased methylation of COL11A1 promoter	23974009
D001205	Ascorbic Acid	Ascorbic Acid results in increased expression of COL11A1 mRNA	17518733
D001397	Azoxymethane	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of COL11A1 mRNA	29950665
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of COL11A1 mRNA	20713471
C031463	beta-glycerophosphoric acid	beta-glycerophosphoric acid results in decreased expression of COL11A1 mRNA	17171500
C031463	beta-glycerophosphoric acid	Calcitriol promotes the reaction [beta-glycerophosphoric acid results in decreased expression of COL11A1 mRNA]	17171500
C031463	beta-glycerophosphoric acid	paricalcitol promotes the reaction [beta-glycerophosphoric acid results in decreased expression of COL11A1 mRNA]	17171500
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of COL11A1 mRNA	25912373
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of COL11A1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of COL11A1 mRNA	25912373
C006780	bisphenol A	bisphenol A results in increased expression of COL11A1 mRNA	29165653; 30951980;
C006780	bisphenol A	bisphenol A results in decreased expression of COL11A1 mRNA	25181051; 30816183;
C000611646	bisphenol F	bisphenol F results in increased expression of COL11A1 mRNA	30951980
C018475	butyraldehyde	butyraldehyde results in decreased expression of COL11A1 mRNA	26079696
D002117	Calcitriol	Calcitriol promotes the reaction [beta-glycerophosphoric acid results in decreased expression of COL11A1 mRNA]	17171500
D002117	Calcitriol	Calcitriol results in decreased expression of COL11A1 mRNA	26485663
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of COL11A1 mRNA	17484886
C039671	ciglitazone	ciglitazone results in decreased expression of COL11A1 mRNA	22193206
D002945	Cisplatin	Cisplatin affects the expression of COL11A1 mRNA	23300844
D002990	Clobetasol	Clobetasol results in decreased expression of COL11A1 mRNA	27462272
D003300	Copper	[NSC 689534 binds to Copper] which results in increased expression of COL11A1 mRNA	20971185
D003471	Cuprizone	Cuprizone results in increased expression of COL11A1 mRNA	26577399
D000069439	Dasatinib	Dasatinib results in increased expression of COL11A1 mRNA	20579391
D003634	DDT	DDT results in decreased expression of COL11A1 mRNA	30207508
D000077209	Decitabine	Decitabine affects the expression of COL11A1 mRNA	23300844
D000077209	Decitabine	Decitabine results in increased expression of COL11A1 mRNA	27915011
D003907	Dexamethasone	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of COL11A1 mRNA	16054899
D016264	Dextran Sulfate	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of COL11A1 mRNA	29950665
D004041	Dietary Fats	Dietary Fats results in increased expression of COL11A1 mRNA	18042831
C058705	diethyl malate	diethyl malate affects the expression of COL11A1 mRNA	24814887
D004121	Dimethyl Sulfoxide	Dimethyl Sulfoxide results in increased expression of COL11A1 mRNA	22193206
C516138	dorsomorphin	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of COL11A1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL11A1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL11A1 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL11A1 mRNA	27188386
D013759	Dronabinol	Dronabinol affects the methylation of COL11A1 gene	26044905
C118739	entinostat	entinostat results in decreased expression of COL11A1 mRNA	26272509
C118739	entinostat	entinostat results in increased expression of COL11A1 mRNA	27188386
C118739	entinostat	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of COL11A1 mRNA	27188386
D004958	Estradiol	Estradiol affects the expression of COL11A1 mRNA	22574217
D004958	Estradiol	[Progesterone co-treated with Estradiol] results in decreased expression of COL11A1 mRNA	20226447
D000431	Ethanol	Ethanol results in increased expression of COL11A1 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of COL11A1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COL11A1 mRNA	17942748
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of COL11A1 mRNA	16079270
C540355	fenamidone	fenamidone results in increased expression of COL11A1 mRNA	27029645
C039281	furan	furan results in increased expression of COL11A1 mRNA	27387713
D019833	Genistein	Genistein results in increased methylation of COL11A1 gene	28505145
D005944	Glucosamine	Glucosamine inhibits the reaction [IL1B results in decreased expression of COL11A1 mRNA]	17109745
D005944	Glucosamine	Glucosamine results in decreased expression of COL11A1 mRNA	17109745
D005944	Glucosamine	IL1B affects the reaction [Glucosamine results in decreased expression of COL11A1 mRNA]	17109745
C004312	glycidol	glycidol affects the expression of COL11A1 mRNA	24915197
C029424	hydrazine	hydrazine results in decreased expression of COL11A1 mRNA	15282401
D007052	Ibuprofen	Ibuprofen affects the expression of COL11A1 mRNA	17070997
D007649	Ketamine	Ketamine results in decreased expression of COL11A1 mRNA	20080153
C008261	lead acetate	lead acetate results in decreased expression of COL11A1 mRNA	11578147
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of COL11A1 mRNA	24972896
D015122	Mercaptopurine	Mercaptopurine results in decreased expression of COL11A1 mRNA	23358152
C042720	mercuric bromide	mercuric bromide results in increased expression of COL11A1 mRNA	26272509
C042720	mercuric bromide	[NOG protein co-treated with mercuric bromide co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL11A1 mRNA	27188386
D008748	Methylcholanthrene	Methylcholanthrene results in decreased expression of COL11A1 mRNA	20713471
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of COL11A1 mRNA	28001369
D008942	Mitoxantrone	COL11A1 protein affects the susceptibility to Mitoxantrone	16217747
C000621807	MM-589	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of COL11A1 mRNA	31023824
C523799	MRK 003	COL11A1 results in decreased susceptibility to MRK 003	19903844
C017096	n-butoxyethanol	n-butoxyethanol results in decreased expression of COL11A1 mRNA	19812364
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in decreased expression of COL11A1 mRNA	20188158
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in increased expression of COL11A1 mRNA	20971185
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in increased expression of COL11A1 mRNA	25729387
D000077150	Oxaliplatin	Oxaliplatin results in increased expression of COL11A1 mRNA	25729387
D000073878	Palm Oil	Palm Oil results in increased expression of COL11A1 mRNA	18042831
D000077767	Panobinostat	Panobinostat results in increased expression of COL11A1 mRNA	27188386
C084656	paricalcitol	paricalcitol promotes the reaction [beta-glycerophosphoric acid results in decreased expression of COL11A1 mRNA]	17171500
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of COL11A1 mRNA	25510870
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL11A1 mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in increased expression of COL11A1 mRNA	26272509
D010672	Phenytoin	Phenytoin results in increased expression of COL11A1 mRNA	14741686
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of COL11A1 mRNA	23608068
D011374	Progesterone	[Progesterone co-treated with Estradiol] results in decreased expression of COL11A1 mRNA	20226447
D011374	Progesterone	Progesterone results in decreased expression of COL11A1 mRNA	18070364
D011374	Progesterone	Progesterone results in decreased expression of COL11A1 mRNA	19690047
D011441	Propylthiouracil	Propylthiouracil affects the expression of COL11A1 mRNA	24780913
C043680	ptaquiloside	ptaquiloside results in decreased expression of COL11A1 mRNA	23274088
C586999	PTC-209	[IGF1 protein co-treated with MM-589 co-treated with A-83-01 co-treated with PTC-209] results in decreased expression of COL11A1 mRNA	31023824
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of COL11A1 mRNA	27029645
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride affects the expression of COL11A1 mRNA	16079270
D000077154	Rosiglitazone	[Dexamethasone co-treated with Rosiglitazone co-treated with 1-Methyl-3-isobutylxanthine co-treated with INS1 protein] results in decreased expression of COL11A1 mRNA	16054899
C513635	S-2-pentyl-4-pentynoic hydroxamic acid	S-2-pentyl-4-pentynoic hydroxamic acid results in increased expression of COL11A1 mRNA	21427059
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of COL11A1 mRNA	22300531
D012834	Silver	Silver affects the expression of COL11A1 mRNA	27131904
D018030	Silver Compounds	Silver Compounds results in increased expression of COL11A1 mRNA	29703973
D019821	Simvastatin	Simvastatin results in increased expression of COL11A1 mRNA	16274305
D013629	Tamoxifen	Tamoxifen affects the expression of COL11A1 mRNA	14699072
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of COL11A1 mRNA	16962184
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of COL11A1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of COL11A1 mRNA	28077779
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of COL11A1 mRNA	15644576
D019284	Thapsigargin	Thapsigargin results in increased expression of COL11A1 protein	24648495
C009495	titanium dioxide	[titanium dioxide co-treated with Azoxymethane co-treated with Dextran Sulfate] results in decreased expression of COL11A1 mRNA	29950665
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in increased expression of COL11A1 mRNA	25729387
D014192	Trapidil	Trapidil affects the reaction [PTH protein affects the expression of COL11A1 mRNA]	18635661
D014212	Tretinoin	Tretinoin results in decreased expression of COL11A1 mRNA	21934132
D014212	Tretinoin	Tretinoin results in decreased expression of COL11A1 mRNA	18703560
C011559	tributyltin	tributyltin results in decreased expression of COL11A1 mRNA	27614199
C012589	trichostatin A	trichostatin A results in increased expression of COL11A1 mRNA	24935251; 27188386;
D014260	Triclosan	Triclosan results in increased expression of COL11A1 mRNA	30510588
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of COL11A1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of COL11A1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of COL11A1 mRNA	23179753; 24383497; 24935251; 26272509; 27188386; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased expression of COL11A1 mRNA	21427059
D000077337	Vorinostat	Vorinostat results in increased expression of COL11A1 mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0106	Calcium
KW-0898	Cataract
KW-0176	Collagen
KW-0209	Deafness
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-1015	Disulfide bond
KW-0242	Dwarfism
KW-0038	Ectodermal dysplasia
KW-0272	Extracellular matrix
KW-0325	Glycoprotein
KW-0379	Hydroxylation
KW-0479	Metal-binding
KW-1010	Non-syndromic deafness
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0964	Secreted
KW-0732	Signal
KW-0757	Stickler syndrome

Interpro

InterPro ID	InterPro Term
IPR008160	Collagen
IPR013320	ConA-like_dom_sf
IPR000885	Fib_collagen_C
IPR001791	Laminin_G

PROSITE

PROSITE ID	PROSITE Term
PS51461	NC1_FIB

Pfam

Pfam ID	Pfam Term
PF01410	COLFI
PF01391	Collagen
PF02210	Laminin_G_2

Gene: COL11A1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

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