CleftGeneDB-Search

Gene: IFT172

Basic information

Tag	Content
Uniprot ID	Q9UG01; A5PKZ0; B2RNU5; Q86X44; Q96HW4; Q9UFJ9; Q9ULP1;
Entrez ID	26160
Genbank protein ID	EAX00573.1; AAH08024.1; CAB53678.1; AAH47294.1; AAI42730.1; AAI37127.1; BAA86493.1; AAI42676.1; CAB55914.2;
Genbank nucleotide ID	NM_015662.2
Ensembl protein ID	ENSP00000260570; ENSP00000352443;
Ensembl nucleotide ID	ENSG00000138002
Gene name	Intraflagellar transport protein 172 homolog
Gene symbol	IFT172
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Required for the maintenance and formation of cilia. Plays an indirect role in hedgehog (Hh) signaling, cilia being required for all activity of the hedgehog pathway (By similarity).
Sequence	MHLKHLRTLL SPQDGAAKVT CMAWSQNNAK FAVCTVDRVV LLYDEHGERR DKFSTKPADM 60 KYGRKSYMVK GMAFSPDSTK IAIGQTDNII YVYKIGEDWG DKKVICNKFI QTSAVTCLQW 120 PAEYIIVFGL AEGKVRLANT KTNKSSTIYG TESYVVSLTT NCSGKGILSG HADGTIVRYF 180 FDDEGSGESQ GKLVNHPCPP YALAWATNSI VAAGCDRKIV AYGKEGHMLQ TFDYSRDPQE 240 REFTTAVSSP GGQSVVLGSY DRLRVFNWIP RRSIWEEAKP KEITNLYTIT ALAWKRDGSR 300 LCVGTLCGGV EQFDCCLRRS IYKNKFELTY VGPSQVIVKN LSSGTRVVLK SHYGYEVEEV 360 KILGKERYLV AHTSETLLLG DLNTNRLSEI AWQGSGGNEK YFFENENVCM IFNAGELTLV 420 EYGNNDTLGS VRTEFMNPHL ISVRINERCQ RGTEDNKKLA YLIDIKTIAI VDLIGGYNIG 480 TVSHESRVDW LELNETGHKL LFRDRKLRLH LYDIESCSKT MILNFCSYMQ WVPGSDVLVA 540 QNRNSLCVWY NIEAPERVTM FTIRGDVIGL ERGGGKTEVM VMEGVTTVAY TLDEGLIEFG 600 TAIDDGNYIR ATAFLETLEM TPETEAMWKT LSKLALEARQ LHIAERCFSA LGQVAKARFL 660 HETNEIADQV SREYGGEGTD FYQVRARLAM LEKNYKLAEM IFLEQNAVEE AMGMYQELHR 720 WDECIAVAEA KGHPALEKLR RSYYQWLMDT QQEERAGELQ ESQGDGLAAI SLYLKAGLPA 780 KAARLVLTRE ELLANTELVE HITAALIKGE LYERAGDLFE KIHNPQKALE CYRKGNAFMK 840 AVELARLAFP VEVVKLEEAW GDHLVQQKQL DAAINHYIEA RCSIKAIEAA LGARQWKKAI 900 YILDLQDRNT ASKYYPLVAQ HYASLQEYEI AEELYTKGDR TKDAIDMYTQ AGRWEQAHKL 960 AMKCMRPEDV SVLYITQAQE MEKQGKYREA ERLYVTVQEP DLAITMYKKH KLYDDMIRLV 1020 GKHHPDLLSD THLHLGKELE AEGRLQEAEY HYLEAQEWKA TVNMYRASGL WEEAYRVART 1080 QGGANAHKHV AYLWAKSLGG EAAVRLLNKL GLLEAAVDHA ADNCSFEFAF ELSRLALKHK 1140 TPEVHLKYAM FLEDEGKFEE AEAEFIRAGK PKEAVLMFVH NQDWEAAQRV AEAHDPDSVA 1200 EVLVGQARGA LEEKDFQKAE GLLLRAQRPG LALNYYKEAG LWSDALRICK DYVPSQLEAL 1260 QEEYEREATK KGARGVEGFV EQARHWEQAG EYSRAVDCYL KVRDSGNSGL AEKCWMKAAE 1320 LSIKFLPPQR NMEVVLAVGP QLIGIGKHSA AAELYLNLDL VKEAIDAFIE GEEWNKAKRV 1380 AKELDPRYED YVDQHYKEFL KNQGKVDSLV GVDVIAALDL YVEQGQWDKC IETATKQNYK 1440 ILHKYVALYA THLIREGSSA QALALYVQHG APANPQNFNI YKRIFTDMVS SPGTNCAEAY 1500 HSWADLRDVL FNLCENLVKS SEANSPAHEE FKTMLLIAHY YATRSAAQSV KQLETVAARL 1560 SVSLLRHTQL LPVDKAFYEA GIAAKAVGWD NMAFIFLNRF LDLTDAIEEG TLDGLDHSDF 1620 QDTDIPFEVP LPAKQHVPEA EREEVRDWVL TVSMDQRLEQ VLPRDERGAY EASLVAASTG 1680 VRALPCLITG YPILRNKIEF KRPGKAANKD NWNKFLMAIK TSHSPVCQDV LKFISQWCGG 1740 LPSTSFSFQ 1749

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	Species	Evidence	Details
1:1 ortholog	IFT172	483013	E2RF25		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	IFT172		A0A452EH68		Capra hircus	Prediction	More>>
1:1 ortholog	IFT172	26160	Q9UG01		Homo sapiens	Prediction	More>>
1:1 ortholog	Ift172	67661	Q6VH22	CPO	Mus musculus	Publication	More>>
1:1 ortholog	IFT172	459104	K7B8Z3		Pan troglodytes	Prediction	More>>
1:1 ortholog	IFT172	100348467	G1SLK9		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	ift172	432389	Q5RHH4		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs781257867	p.His2Pro	missense variant	-	NC_000002.12:g.27489649T>G	ExAC,gnomAD
rs1430470069	p.His2Gln	missense variant	-	NC_000002.12:g.27489648G>T	TOPMed,gnomAD
rs752135960	p.His2Asn	missense variant	-	NC_000002.12:g.27489650G>T	ExAC,gnomAD
rs1246454433	p.Leu3Trp	missense variant	-	NC_000002.12:g.27489646A>C	gnomAD
rs754840856	p.His5Tyr	missense variant	-	NC_000002.12:g.27489641G>A	ExAC,gnomAD
rs754840856	p.His5Asp	missense variant	-	NC_000002.12:g.27489641G>C	ExAC,gnomAD
rs1245102913	p.Leu6Val	missense variant	-	NC_000002.12:g.27489638G>C	TOPMed,gnomAD
rs766303251	p.Arg7Lys	missense variant	-	NC_000002.12:g.27489634C>T	ExAC,TOPMed,gnomAD
rs766303251	p.Arg7Met	missense variant	-	NC_000002.12:g.27489634C>A	ExAC,TOPMed,gnomAD
rs933834225	p.Thr8Ser	missense variant	-	NC_000002.12:g.27489632T>A	TOPMed
rs1252190644	p.Ser11Asn	missense variant	-	NC_000002.12:g.27489622C>T	gnomAD
rs762799040	p.Gln13Arg	missense variant	-	NC_000002.12:g.27489616T>C	ExAC,gnomAD
rs1446973289	p.Ala16Pro	missense variant	-	NC_000002.12:g.27485497C>G	TOPMed
rs780549551	p.Lys18Gln	missense variant	-	NC_000002.12:g.27485491T>G	ExAC,gnomAD
rs146548956	p.Lys18Arg	missense variant	-	NC_000002.12:g.27485490T>C	1000Genomes,ExAC,gnomAD
rs751486617	p.Thr20Ile	missense variant	-	NC_000002.12:g.27485484G>A	ExAC,gnomAD
rs1330779497	p.Met22Val	missense variant	-	NC_000002.12:g.27485479T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Trp24Ter	stop gained	-	NC_000002.12:g.27485472C>T	NCI-TCGA
rs1369711394	p.Trp24Ser	missense variant	-	NC_000002.12:g.27485472C>G	gnomAD
rs780072358	p.Trp24Gly	missense variant	-	NC_000002.12:g.27485473A>C	ExAC,gnomAD
rs758324408	p.Gln26Arg	missense variant	-	NC_000002.12:g.27485466T>C	ExAC,gnomAD
rs1425471550	p.Gln26His	missense variant	-	NC_000002.12:g.27485465C>A	gnomAD
rs750235850	p.Asn28Ser	missense variant	-	NC_000002.12:g.27485460T>C	ExAC,gnomAD
rs1161494896	p.Ala29Val	missense variant	-	NC_000002.12:g.27485457G>A	gnomAD
rs1472492385	p.Phe31Ser	missense variant	-	NC_000002.12:g.27485451A>G	gnomAD
rs200884031	p.Val33Ala	missense variant	-	NC_000002.12:g.27485445A>G	ExAC,TOPMed,gnomAD
rs761913977	p.Thr35Pro	missense variant	-	NC_000002.12:g.27485440T>G	ExAC,gnomAD
COSM4947164	p.Thr35Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27485439G>A	NCI-TCGA Cosmic
RCV000190597	p.Arg38Ter	nonsense	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27485431G>A	ClinVar
rs139021548	p.Arg38Ter	stop gained	-	NC_000002.12:g.27485431G>A	ESP,ExAC,TOPMed,gnomAD
rs552861632	p.Arg38Gln	missense variant	-	NC_000002.12:g.27485430C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs552861632	p.Arg38Pro	missense variant	-	NC_000002.12:g.27485430C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs139021548	p.Arg38Gly	missense variant	-	NC_000002.12:g.27485431G>C	ESP,ExAC,TOPMed,gnomAD
rs1007620906	p.Leu42Met	missense variant	-	NC_000002.12:g.27485419G>T	TOPMed,gnomAD
rs1473980860	p.Tyr43Cys	missense variant	-	NC_000002.12:g.27485415T>C	TOPMed
rs1221471858	p.Glu45Ala	missense variant	-	NC_000002.12:g.27485409T>G	gnomAD
rs1350745027	p.Glu45Asp	missense variant	-	NC_000002.12:g.27485408T>A	TOPMed,gnomAD
rs1280850403	p.His46Leu	missense variant	-	NC_000002.12:g.27485406T>A	TOPMed,gnomAD
rs1280850403	p.His46Arg	missense variant	-	NC_000002.12:g.27485406T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly47Glu	missense variant	-	NC_000002.12:g.27485403C>T	NCI-TCGA
rs151097967	p.Arg49Gln	missense variant	-	NC_000002.12:g.27485397C>T	ESP,ExAC,TOPMed,gnomAD
rs141043554	p.Arg49Trp	missense variant	-	NC_000002.12:g.27485398G>A	ESP,ExAC,TOPMed,gnomAD
rs1046047303	p.Arg50Lys	missense variant	-	NC_000002.12:g.27485394C>T	TOPMed,gnomAD
rs537341371	p.Asp51Glu	missense variant	-	NC_000002.12:g.27485390A>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Lys52Thr	missense variant	-	NC_000002.12:g.27485388T>G	NCI-TCGA
rs776310391	p.Phe53Ile	missense variant	-	NC_000002.12:g.27485386A>T	ExAC
rs768058682	p.Phe53Leu	missense variant	-	NC_000002.12:g.27485384G>T	ExAC,TOPMed,gnomAD
rs746462745	p.Thr55Ser	missense variant	-	NC_000002.12:g.27485379G>C	ExAC
rs780205001	p.Lys56Thr	missense variant	-	NC_000002.12:g.27485376T>G	ExAC,gnomAD
rs758377122	p.Met60Val	missense variant	-	NC_000002.12:g.27485365T>C	ExAC,TOPMed,gnomAD
rs745703364	p.Lys61Asn	missense variant	-	NC_000002.12:g.27485360C>A	ExAC,gnomAD
rs1214968975	p.Arg64Lys	missense variant	-	NC_000002.12:g.27485123C>T	gnomAD
NCI-TCGA novel	p.Lys65Thr	missense variant	-	NC_000002.12:g.27485120T>G	NCI-TCGA
rs749094840	p.Lys65Asn	missense variant	-	NC_000002.12:g.27485119C>A	ExAC,gnomAD
rs77598375	p.Lys65Glu	missense variant	-	NC_000002.12:g.27485121T>C	ExAC,gnomAD
rs1337472006	p.Ser66Asn	missense variant	-	NC_000002.12:g.27485117C>T	gnomAD
rs777925178	p.Ser66Cys	missense variant	-	NC_000002.12:g.27485118T>A	ExAC,gnomAD
rs1450739446	p.Tyr67Ser	missense variant	-	NC_000002.12:g.27485114T>G	gnomAD
rs1467002304	p.Met68Ile	missense variant	-	NC_000002.12:g.27485110C>T	TOPMed
rs1357949641	p.Met68Arg	missense variant	-	NC_000002.12:g.27485111A>C	gnomAD
rs756299134	p.Val69Met	missense variant	-	NC_000002.12:g.27485109C>T	ExAC,TOPMed,gnomAD
rs1410849775	p.Val69Gly	missense variant	-	NC_000002.12:g.27485108A>C	gnomAD
rs1392472019	p.Gly71Asp	missense variant	-	NC_000002.12:g.27485102C>T	gnomAD
NCI-TCGA novel	p.Phe74SerPheSerTerUnk	frameshift	-	NC_000002.12:g.27485093_27485094insG	NCI-TCGA
rs767606993	p.Asp77Gly	missense variant	-	NC_000002.12:g.27485084T>C	ExAC,gnomAD
rs182323013	p.Ser78Phe	missense variant	-	NC_000002.12:g.27485081G>A	1000Genomes,ExAC,gnomAD
rs1482208473	p.Thr79Ile	missense variant	-	NC_000002.12:g.27485078G>A	gnomAD
rs1482208473	p.Thr79Ser	missense variant	-	NC_000002.12:g.27485078G>C	gnomAD
rs752069515	p.Thr79Ala	missense variant	-	NC_000002.12:g.27485079T>C	ExAC,TOPMed,gnomAD
rs766853711	p.Lys80Thr	missense variant	-	NC_000002.12:g.27485075T>G	ExAC,TOPMed,gnomAD
rs1236871475	p.Lys80Glu	missense variant	-	NC_000002.12:g.27485076T>C	gnomAD
rs1398648274	p.Ala82Ser	missense variant	-	NC_000002.12:g.27485070C>A	TOPMed
rs142227350	p.Ile83Val	missense variant	-	NC_000002.12:g.27485067T>C	ESP,ExAC,TOPMed,gnomAD
rs773591358	p.Ile83Met	missense variant	-	NC_000002.12:g.27485065T>C	ExAC,TOPMed,gnomAD
COSM1019719	p.Ile83Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27485066A>G	NCI-TCGA Cosmic
rs1220923945	p.Gly84Arg	missense variant	-	NC_000002.12:g.27485064C>G	TOPMed
rs1315759776	p.Gln85Leu	missense variant	-	NC_000002.12:g.27485060T>A	gnomAD
rs1315759776	p.Gln85Arg	missense variant	-	NC_000002.12:g.27485060T>C	gnomAD
rs771712132	p.Asp87Asn	missense variant	-	NC_000002.12:g.27485055C>T	ExAC,gnomAD
rs1443634104	p.Asn88Ser	missense variant	-	NC_000002.12:g.27485051T>C	TOPMed,gnomAD
rs1487026215	p.Tyr91Cys	missense variant	-	NC_000002.12:g.27485042T>C	TOPMed
rs1306568500	p.Val92Ala	missense variant	-	NC_000002.12:g.27485039A>G	gnomAD
rs774211857	p.Tyr93Cys	missense variant	-	NC_000002.12:g.27485036T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys94Asn	missense variant	-	NC_000002.12:g.27485032C>G	NCI-TCGA
rs777604071	p.Ile95Thr	missense variant	-	NC_000002.12:g.27485030A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly96Ter	stop gained	-	NC_000002.12:g.27485028C>A	NCI-TCGA
rs189236939	p.Glu97Asp	missense variant	-	NC_000002.12:g.27485023T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs77414825	p.Gly100Ala	missense variant	-	NC_000002.12:g.27484264C>G	ExAC,gnomAD
rs77414825	p.Gly100Asp	missense variant	-	NC_000002.12:g.27484264C>T	ExAC,gnomAD
rs1417967814	p.Lys102Thr	missense variant	-	NC_000002.12:g.27484258T>G	TOPMed,gnomAD
rs1176427334	p.Cys106Gly	missense variant	-	NC_000002.12:g.27484247A>C	TOPMed
rs762960466	p.Phe109Leu	missense variant	-	NC_000002.12:g.27484236G>T	gnomAD
rs542128061	p.Phe109Leu	missense variant	-	NC_000002.12:g.27484238A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Ile110Val	missense variant	-	NC_000002.12:g.27484235T>C	NCI-TCGA
rs747883999	p.Ile110Phe	missense variant	-	NC_000002.12:g.27484235T>A	ExAC,TOPMed,gnomAD
rs1423053908	p.Gln111Arg	missense variant	-	NC_000002.12:g.27484231T>C	TOPMed
rs781453446	p.Gln111Glu	missense variant	-	NC_000002.12:g.27484232G>C	ExAC,gnomAD
rs191146686	p.Thr112Met	missense variant	-	NC_000002.12:g.27484228G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768864867	p.Thr112Pro	missense variant	-	NC_000002.12:g.27484229T>G	ExAC,gnomAD
rs778306652	p.Ser113Asn	missense variant	-	NC_000002.12:g.27483936C>T	ExAC,gnomAD
rs1339707073	p.Ser113Gly	missense variant	-	NC_000002.12:g.27483937T>C	TOPMed,gnomAD
rs751230602	p.Thr116Ile	missense variant	-	NC_000002.12:g.27483927G>A	ExAC,TOPMed,gnomAD
rs1395446219	p.Cys117Tyr	missense variant	-	NC_000002.12:g.27483924C>T	gnomAD
rs765893868	p.Leu118Pro	missense variant	-	NC_000002.12:g.27483921A>G	ExAC,TOPMed,gnomAD
rs765893868	p.Leu118Arg	missense variant	-	NC_000002.12:g.27483921A>C	ExAC,TOPMed,gnomAD
rs765202929	p.Pro121Leu	missense variant	-	NC_000002.12:g.27483912G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu123Lys	missense variant	-	NC_000002.12:g.27483907C>T	NCI-TCGA
rs776509019	p.Ile125Leu	missense variant	-	NC_000002.12:g.27483901T>G	ExAC,gnomAD
rs1370329911	p.Ile126Val	missense variant	-	NC_000002.12:g.27483898T>C	gnomAD
rs763950958	p.Val127Ile	missense variant	-	NC_000002.12:g.27483895C>T	ExAC,TOPMed,gnomAD
rs1252918577	p.Phe128Leu	missense variant	-	NC_000002.12:g.27483892A>G	gnomAD
NCI-TCGA novel	p.Gly129Arg	missense variant	-	NC_000002.12:g.27483889C>T	NCI-TCGA
rs1388593336	p.Leu130Arg	missense variant	-	NC_000002.12:g.27483885A>C	TOPMed
NCI-TCGA novel	p.Glu132Lys	missense variant	-	NC_000002.12:g.27483880C>T	NCI-TCGA
rs772179397	p.Glu132Asp	missense variant	-	NC_000002.12:g.27483878T>G	ExAC,gnomAD
COSM4858378	p.Glu132Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27483878T>A	NCI-TCGA Cosmic
rs745998687	p.Lys134Glu	missense variant	-	NC_000002.12:g.27483874T>C	ExAC,gnomAD
rs201476743	p.Val135Ile	missense variant	-	NC_000002.12:g.27483659C>T	TOPMed,gnomAD
rs1486720022	p.Val135Ala	missense variant	-	NC_000002.12:g.27483658A>G	TOPMed
rs763923637	p.Arg136His	missense variant	-	NC_000002.12:g.27483655C>T	ExAC,TOPMed,gnomAD
rs753783467	p.Arg136Cys	missense variant	-	NC_000002.12:g.27483656G>A	ExAC,gnomAD
rs1479123351	p.Leu137Ter	stop gained	-	NC_000002.12:g.27483652A>C	TOPMed,gnomAD
rs1461000488	p.Ala138Thr	missense variant	-	NC_000002.12:g.27483650C>T	TOPMed
rs1328218116	p.Thr140Ile	missense variant	-	NC_000002.12:g.27483643G>A	gnomAD
rs752403521	p.Lys141Thr	missense variant	-	NC_000002.12:g.27483640T>G	ExAC,gnomAD
rs760582917	p.Lys141Glu	missense variant	-	NC_000002.12:g.27483641T>C	ExAC,gnomAD
rs1333070754	p.Thr142Pro	missense variant	-	NC_000002.12:g.27483638T>G	gnomAD
rs1440225222	p.Ser145Ter	stop gained	-	NC_000002.12:g.27483628G>C	gnomAD
COSM1019716	p.Ser146Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27483625G>T	NCI-TCGA Cosmic
COSM3798921	p.Ser146Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27483625G>C	NCI-TCGA Cosmic
rs759861487	p.Ile148Val	missense variant	-	NC_000002.12:g.27483620T>C	ExAC,TOPMed,gnomAD
rs1161989952	p.Tyr149Cys	missense variant	-	NC_000002.12:g.27483616T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly150Arg	missense variant	-	NC_000002.12:g.27483614C>G	NCI-TCGA
rs368343162	p.Gly150Glu	missense variant	-	NC_000002.12:g.27483613C>T	ExAC,TOPMed,gnomAD
rs368343162	p.Gly150Ala	missense variant	-	NC_000002.12:g.27483613C>G	ExAC,TOPMed,gnomAD
rs763070687	p.Tyr154Phe	missense variant	-	NC_000002.12:g.27483601T>A	ExAC,gnomAD
rs763070687	p.Tyr154Cys	missense variant	-	NC_000002.12:g.27483601T>C	ExAC,gnomAD
rs149969430	p.Val155Leu	missense variant	-	NC_000002.12:g.27483599C>G	ESP,ExAC,TOPMed,gnomAD
rs149969430	p.Val155Met	missense variant	-	NC_000002.12:g.27483599C>T	ESP,ExAC,TOPMed,gnomAD
rs149969430	p.Val155Leu	missense variant	-	NC_000002.12:g.27483599C>A	ESP,ExAC,TOPMed,gnomAD
rs1401986067	p.Val156Leu	missense variant	-	NC_000002.12:g.27483596C>A	TOPMed
rs1464945043	p.Val156Ala	missense variant	-	NC_000002.12:g.27483595A>G	gnomAD
rs1206668490	p.Ser157Phe	missense variant	-	NC_000002.12:g.27483592G>A	gnomAD
rs762255055	p.Cys162Phe	missense variant	-	NC_000002.12:g.27483374C>A	ExAC,gnomAD
rs543483878	p.Ser163Phe	missense variant	-	NC_000002.12:g.27483371G>A	1000Genomes,ExAC,gnomAD
rs769020119	p.Gly166Glu	missense variant	-	NC_000002.12:g.27483362C>T	ExAC,gnomAD
rs369822391	p.Ile167Val	missense variant	-	NC_000002.12:g.27483360T>C	ESP,ExAC,TOPMed
rs778601747	p.Leu168Ile	missense variant	-	NC_000002.12:g.27483357G>T	ExAC,TOPMed,gnomAD
COSM3580646	p.Leu168Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27483357G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser169Phe	missense variant	-	NC_000002.12:g.27483353G>A	NCI-TCGA
rs748845217	p.His171Leu	missense variant	-	NC_000002.12:g.27483347T>A	ExAC,TOPMed,gnomAD
rs748845217	p.His171Arg	missense variant	-	NC_000002.12:g.27483347T>C	ExAC,TOPMed,gnomAD
COSM3580644	p.His171Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27483348G>A	NCI-TCGA Cosmic
rs755611941	p.Ala172Glu	missense variant	-	NC_000002.12:g.27483344G>T	ExAC,gnomAD
rs777168931	p.Ala172Thr	missense variant	-	NC_000002.12:g.27483345C>T	ExAC,TOPMed,gnomAD
rs755611941	p.Ala172Gly	missense variant	-	NC_000002.12:g.27483344G>C	ExAC,gnomAD
rs576276768	p.Asp173Gly	missense variant	-	NC_000002.12:g.27483341T>C	1000Genomes,ExAC
rs781128477	p.Gly174Val	missense variant	-	NC_000002.12:g.27483338C>A	ExAC,TOPMed,gnomAD
rs1296317670	p.Thr175Ile	missense variant	-	NC_000002.12:g.27483335G>A	gnomAD
rs754880269	p.Val177Ile	missense variant	-	NC_000002.12:g.27483330C>T	ExAC,gnomAD
rs754880269	p.Val177Phe	missense variant	-	NC_000002.12:g.27483330C>A	ExAC,gnomAD
rs1276028344	p.Arg178Ser	missense variant	-	NC_000002.12:g.27483325C>A	TOPMed
rs150780299	p.Arg178Trp	missense variant	-	NC_000002.12:g.27483327T>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Tyr179His	missense variant	-	NC_000002.12:g.27483324A>G	NCI-TCGA
NCI-TCGA novel	p.Tyr179Ter	stop gained	-	NC_000002.12:g.27483322_27483323insCAAAAAATAAATACAAAAAT	NCI-TCGA
rs1483934151	p.Phe181Leu	missense variant	-	NC_000002.12:g.27483318A>G	gnomAD
rs766750140	p.Asp182Asn	missense variant	-	NC_000002.12:g.27483315C>T	ExAC
rs1276984398	p.Asp183Asn	missense variant	-	NC_000002.12:g.27483312C>T	gnomAD
rs758675573	p.Asp183Val	missense variant	-	NC_000002.12:g.27483311T>A	ExAC,gnomAD
rs1290766680	p.Glu184Gly	missense variant	-	NC_000002.12:g.27483308T>C	gnomAD
COSM3839302	p.Glu184Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.27483309C>A	NCI-TCGA Cosmic
rs1218744872	p.Glu184Gln	missense variant	-	NC_000002.12:g.27483309C>G	gnomAD
rs1230515921	p.Gly185Ser	missense variant	-	NC_000002.12:g.27483306C>T	gnomAD
rs375455647	p.Gly185Asp	missense variant	-	NC_000002.12:g.27483305C>T	ESP,TOPMed,gnomAD
rs765232421	p.Ser186Cys	missense variant	-	NC_000002.12:g.27483302G>C	ExAC,gnomAD
rs761890738	p.Ser189Pro	missense variant	-	NC_000002.12:g.27483294A>G	ExAC
rs1209899453	p.Leu193Val	missense variant	-	NC_000002.12:g.27481254A>C	gnomAD
rs1466681290	p.Val194Leu	missense variant	-	NC_000002.12:g.27481251C>G	gnomAD
rs767873188	p.Val194Ala	missense variant	-	NC_000002.12:g.27481250A>G	ExAC,gnomAD
rs267599319	p.Pro197Thr	missense variant	-	NC_000002.12:g.27481242G>T	ExAC,gnomAD
rs368373262	p.Pro197Leu	missense variant	-	NC_000002.12:g.27481241G>A	ESP,ExAC,TOPMed,gnomAD
rs267599319	p.Pro197Ser	missense variant	-	NC_000002.12:g.27481242G>A	ExAC,gnomAD
rs776260844	p.Pro200Arg	missense variant	-	NC_000002.12:g.27481232G>C	ExAC,gnomAD
rs768237211	p.Tyr201Cys	missense variant	-	NC_000002.12:g.27481229T>C	ExAC,TOPMed,gnomAD
rs1437164423	p.Ala204Ser	missense variant	-	NC_000002.12:g.27481221C>A	gnomAD
rs563142153	p.Ala206Thr	missense variant	-	NC_000002.12:g.27481215C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771817287	p.Asn208Ser	missense variant	-	NC_000002.12:g.27481208T>C	ExAC,TOPMed,gnomAD
rs757478657	p.Val211Met	missense variant	-	NC_000002.12:g.27481200C>T	ExAC,TOPMed,gnomAD
rs1452877791	p.Cys215Trp	missense variant	-	NC_000002.12:g.27481186A>C	gnomAD
rs1457093080	p.Asp216Val	missense variant	-	NC_000002.12:g.27481184T>A	gnomAD
rs1394542868	p.Asp216His	missense variant	-	NC_000002.12:g.27481185C>G	gnomAD
rs773661262	p.Arg217Trp	missense variant	-	NC_000002.12:g.27481182G>A	ExAC,gnomAD
rs777862424	p.Arg217Pro	missense variant	-	NC_000002.12:g.27481181C>G	ExAC,TOPMed,gnomAD
rs777862424	p.Arg217Gln	missense variant	-	NC_000002.12:g.27481181C>T	ExAC,TOPMed,gnomAD
rs756119182	p.Val220Ile	missense variant	-	NC_000002.12:g.27481173C>T	ExAC,gnomAD
rs756119182	p.Val220Leu	missense variant	-	NC_000002.12:g.27481173C>A	ExAC,gnomAD
rs1187199705	p.Val220Ala	missense variant	-	NC_000002.12:g.27481172A>G	TOPMed
rs1483747273	p.Gly223Ala	missense variant	-	NC_000002.12:g.27481163C>G	gnomAD
rs767999703	p.Glu225Gln	missense variant	-	NC_000002.12:g.27481158C>G	ExAC,gnomAD
rs759886744	p.Gly226Cys	missense variant	-	NC_000002.12:g.27481155C>A	ExAC,gnomAD
rs751922469	p.Gly226Asp	missense variant	-	NC_000002.12:g.27481154C>T	ExAC,gnomAD
COSM477277	p.His227Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27481150G>T	NCI-TCGA Cosmic
rs142857050	p.His227Tyr	missense variant	-	NC_000002.12:g.27481152G>A	ESP,ExAC,TOPMed,gnomAD
rs373455739	p.Met228Leu	missense variant	-	NC_000002.12:g.27481149T>G	ESP,TOPMed,gnomAD
rs373455739	p.Met228Val	missense variant	-	NC_000002.12:g.27481149T>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Arg236Leu	missense variant	-	NC_000002.12:g.27481124C>A	NCI-TCGA
rs146290725	p.Arg236Cys	missense variant	-	NC_000002.12:g.27481125G>A	ESP,ExAC,TOPMed,gnomAD
rs768290728	p.Arg236His	missense variant	-	NC_000002.12:g.27481124C>T	ExAC,TOPMed,gnomAD
rs146290725	p.Arg236Ser	missense variant	-	NC_000002.12:g.27481125G>T	ESP,ExAC,TOPMed,gnomAD
rs146290725	p.Arg236Gly	missense variant	-	NC_000002.12:g.27481125G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp237Asn	missense variant	-	NC_000002.12:g.27481122C>T	NCI-TCGA
rs1381064305	p.Gln239Arg	missense variant	-	NC_000002.12:g.27481115T>C	gnomAD
rs760244057	p.Gln239His	missense variant	-	NC_000002.12:g.27481114C>A	ExAC,gnomAD
rs1169495816	p.Arg241Gln	missense variant	-	NC_000002.12:g.27481109C>T	TOPMed,gnomAD
rs772012378	p.Arg241Trp	missense variant	-	NC_000002.12:g.27481110G>A	ExAC,TOPMed,gnomAD
rs1371416642	p.Glu242Gln	missense variant	-	NC_000002.12:g.27481107C>G	gnomAD
rs144379702	p.Val247Leu	missense variant	-	NC_000002.12:g.27481092C>G	ESP,ExAC,gnomAD
rs1013134780	p.Pro250Ser	missense variant	-	NC_000002.12:g.27481083G>A	TOPMed,gnomAD
rs1013134780	p.Pro250Ala	missense variant	-	NC_000002.12:g.27481083G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gly252AlaPheSerTerUnk	frameshift	-	NC_000002.12:g.27481076C>-	NCI-TCGA
rs749516036	p.Gly252Asp	missense variant	-	NC_000002.12:g.27481076C>T	ExAC,gnomAD
rs777914345	p.Val256Met	missense variant	-	NC_000002.12:g.27481065C>T	ExAC,gnomAD
RCV000171551	p.Leu257Pro	missense variant	Retinitis pigmentosa 71 (RP71)	NC_000002.12:g.27481061A>G	ClinVar
rs786205857	p.Leu257Pro	missense variant	-	NC_000002.12:g.27481061A>G	-
rs1303576592	p.Gly258Ala	missense variant	-	NC_000002.12:g.27481058C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Arg262Ser	missense variant	-	NC_000002.12:g.27480149C>A	NCI-TCGA
rs1235295289	p.Arg262Met	missense variant	-	NC_000002.12:g.27481046C>A	gnomAD
rs976552782	p.Arg264Leu	missense variant	-	NC_000002.12:g.27480144C>A	TOPMed,gnomAD
rs750783565	p.Arg264Trp	missense variant	-	NC_000002.12:g.27480145G>A	ExAC,gnomAD
rs976552782	p.Arg264Gln	missense variant	-	NC_000002.12:g.27480144C>T	TOPMed,gnomAD
rs1364955385	p.Asn267Ser	missense variant	-	NC_000002.12:g.27480135T>C	TOPMed
rs931651427	p.Trp268Gly	missense variant	-	NC_000002.12:g.27480133A>C	TOPMed
rs1250676888	p.Arg271Ter	stop gained	-	NC_000002.12:g.27480124G>A	gnomAD
rs375847990	p.Arg271Gln	missense variant	-	NC_000002.12:g.27480123C>T	ExAC,TOPMed,gnomAD
RCV000702336	p.Arg271Ter	nonsense	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27480124G>A	ClinVar
rs1465330436	p.Ser273Arg	missense variant	-	NC_000002.12:g.27480118T>G	gnomAD
rs1269755860	p.Trp275Cys	missense variant	-	NC_000002.12:g.27480110C>A	gnomAD
rs150938554	p.Glu277Asp	missense variant	-	NC_000002.12:g.27480104C>G	ESP,ExAC,TOPMed,gnomAD
RCV000413813	p.Glu277Asp	missense variant	-	NC_000002.12:g.27480104C>G	ClinVar
COSM1407470	p.Ala278Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27480102G>C	NCI-TCGA Cosmic
rs1279126964	p.Pro280Leu	missense variant	-	NC_000002.12:g.27480096G>A	gnomAD
rs1234246059	p.Lys281Glu	missense variant	-	NC_000002.12:g.27480094T>C	gnomAD
rs774405210	p.Glu282Lys	missense variant	-	NC_000002.12:g.27480091C>T	ExAC,TOPMed,gnomAD
rs975683128	p.Asn285Ser	missense variant	-	NC_000002.12:g.27480081T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Leu286ThrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.27480076_27480079ATAA>-	NCI-TCGA
rs766223232	p.Tyr287Cys	missense variant	-	NC_000002.12:g.27480075T>C	ExAC,gnomAD
rs769531545	p.Thr288Ile	missense variant	-	NC_000002.12:g.27480072G>A	ExAC,gnomAD
rs772971741	p.Thr288Ala	missense variant	-	NC_000002.12:g.27480073T>C	ExAC,TOPMed,gnomAD
rs748403646	p.Thr290Ala	missense variant	-	NC_000002.12:g.27480067T>C	ExAC,gnomAD
rs370903625	p.Ala293Thr	missense variant	-	NC_000002.12:g.27480058C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs368407796	p.Arg296Gln	missense variant	-	NC_000002.12:g.27480048C>T	ESP,ExAC,TOPMed,gnomAD
RCV000083274	p.Arg296Trp	missense variant	Short-rib thoracic dysplasia 10 without polydactyly	NC_000002.12:g.27480049G>A	ClinVar
rs145541911	p.Arg296Trp	missense variant	-	NC_000002.12:g.27480049G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1330519867	p.Ser299Leu	missense variant	-	NC_000002.12:g.27480039G>A	TOPMed
rs1213575384	p.Arg300Trp	missense variant	-	NC_000002.12:g.27480037G>A	gnomAD
rs146332658	p.Arg300Gln	missense variant	-	NC_000002.12:g.27480036C>T	ESP,ExAC,TOPMed,gnomAD
rs1201235224	p.Cys302Tyr	missense variant	-	NC_000002.12:g.27480030C>T	TOPMed,gnomAD
rs1201235224	p.Cys302Ser	missense variant	-	NC_000002.12:g.27480030C>G	TOPMed,gnomAD
rs1279146828	p.Cys302Arg	missense variant	-	NC_000002.12:g.27480031A>G	gnomAD
rs951538849	p.Val303Ala	missense variant	-	NC_000002.12:g.27480027A>G	TOPMed
RCV000497646	p.Gly304Asp	missense variant	-	NC_000002.12:g.27479603C>T	ClinVar
rs1553335843	p.Gly304Asp	missense variant	-	NC_000002.12:g.27479603C>T	-
rs144763092	p.Cys307Tyr	missense variant	-	NC_000002.12:g.27479594C>T	ESP,ExAC,TOPMed,gnomAD
rs771479443	p.Gly308Cys	missense variant	-	NC_000002.12:g.27479592C>A	ExAC,gnomAD
rs749612277	p.Gly309Ala	missense variant	-	NC_000002.12:g.27479588C>G	ExAC,gnomAD
rs1483534962	p.Val310Ala	missense variant	-	NC_000002.12:g.27479585A>G	gnomAD
rs1437343049	p.Cys315Arg	missense variant	-	NC_000002.12:g.27479571A>G	gnomAD
rs1291146713	p.Cys316Tyr	missense variant	-	NC_000002.12:g.27479567C>T	gnomAD
rs779572697	p.Arg318Gln	missense variant	-	NC_000002.12:g.27479561C>T	ExAC,TOPMed,gnomAD
rs751177541	p.Arg318Ter	stop gained	-	NC_000002.12:g.27479562G>A	ExAC,gnomAD
rs751177541	p.Arg318Gly	missense variant	-	NC_000002.12:g.27479562G>C	ExAC,gnomAD
rs1002834084	p.Arg319Lys	missense variant	-	NC_000002.12:g.27479558C>T	TOPMed
rs765150051	p.Ser320Arg	missense variant	-	NC_000002.12:g.27479554A>C	ExAC,gnomAD
rs750376689	p.Ser320Gly	missense variant	-	NC_000002.12:g.27479556T>C	ExAC,gnomAD
rs761704635	p.Ile321Met	missense variant	-	NC_000002.12:g.27479551A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys323Asn	missense variant	-	NC_000002.12:g.27479545C>A	NCI-TCGA
rs370874046	p.Asn324Lys	missense variant	-	NC_000002.12:g.27479542G>T	ESP,ExAC,TOPMed,gnomAD
rs370874046	p.Asn324Lys	missense variant	-	NC_000002.12:g.27479542G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe326Ser	missense variant	-	NC_000002.12:g.27479537A>G	NCI-TCGA
rs568736482	p.Thr329Met	missense variant	-	NC_000002.12:g.27479528G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1159686950	p.Tyr330His	missense variant	-	NC_000002.12:g.27479526A>G	gnomAD
COSM3991253	p.Tyr330Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27479525T>A	NCI-TCGA Cosmic
rs1425429499	p.Gly332Glu	missense variant	-	NC_000002.12:g.27479519C>T	TOPMed,gnomAD
rs1185154683	p.Gly332Arg	missense variant	-	NC_000002.12:g.27479520C>T	gnomAD
rs774559020	p.Ile337Val	missense variant	-	NC_000002.12:g.27478153T>C	ExAC,gnomAD
COSM1326233	p.Lys339Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27478147T>C	NCI-TCGA Cosmic
rs1252865853	p.Ser343Pro	missense variant	-	NC_000002.12:g.27478135A>G	gnomAD
RCV000428220	p.Arg346Ter	nonsense	-	NC_000002.12:g.27478126G>A	ClinVar
rs763372262	p.Arg346Gln	missense variant	-	NC_000002.12:g.27478125C>T	ExAC,gnomAD
rs201862538	p.Arg346Ter	stop gained	-	NC_000002.12:g.27478126G>A	ExAC,TOPMed,gnomAD
rs773726175	p.Val347Leu	missense variant	-	NC_000002.12:g.27478123C>G	ExAC,gnomAD
rs770074024	p.Val348Met	missense variant	-	NC_000002.12:g.27478120C>T	ExAC,TOPMed,gnomAD
rs770074024	p.Val348Leu	missense variant	-	NC_000002.12:g.27478120C>A	ExAC,TOPMed,gnomAD
rs775160257	p.Leu349His	missense variant	-	NC_000002.12:g.27478116A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys350Met	missense variant	-	NC_000002.12:g.27478113T>A	NCI-TCGA
rs145847794	p.His352Gln	missense variant	-	NC_000002.12:g.27478106G>C	ESP,ExAC,TOPMed,gnomAD
rs778403051	p.His352Arg	missense variant	-	NC_000002.12:g.27478107T>C	ExAC,gnomAD
rs776551883	p.His352Tyr	missense variant	-	NC_000002.12:g.27478108G>A	TOPMed,gnomAD
rs1337535320	p.Tyr353Ter	stop gained	-	NC_000002.12:g.27478104dup	gnomAD
rs749207320	p.Tyr353Cys	missense variant	-	NC_000002.12:g.27478104T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly354Asp	missense variant	-	NC_000002.12:g.27478101C>T	NCI-TCGA
rs1230851942	p.Gly354Ala	missense variant	-	NC_000002.12:g.27478101C>G	TOPMed
rs950574407	p.Val357Met	missense variant	-	NC_000002.12:g.27478093C>T	TOPMed
rs1335378958	p.Lys361Gln	missense variant	-	NC_000002.12:g.27478081T>G	TOPMed
rs1294413135	p.Ile362Met	missense variant	-	NC_000002.12:g.27478076G>C	TOPMed,gnomAD
COSM3580638	p.Ile362Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27478078T>C	NCI-TCGA Cosmic
COSM6158105	p.Gly364Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27478072C>T	NCI-TCGA Cosmic
rs755902957	p.Glu366Lys	missense variant	-	NC_000002.12:g.27478066C>T	ExAC,gnomAD
rs755816980	p.Arg367Ser	missense variant	-	NC_000002.12:g.27478063G>T	ExAC,TOPMed,gnomAD
rs755816980	p.Arg367Cys	missense variant	-	NC_000002.12:g.27478063G>A	ExAC,TOPMed,gnomAD
rs755263642	p.Arg367His	missense variant	-	NC_000002.12:g.27478062C>T	ExAC,TOPMed,gnomAD
rs755263642	p.Arg367Leu	missense variant	-	NC_000002.12:g.27478062C>A	ExAC,TOPMed,gnomAD
rs751763732	p.Tyr368His	missense variant	-	NC_000002.12:g.27478060A>G	ExAC,gnomAD
rs1186256423	p.Val370Met	missense variant	-	NC_000002.12:g.27478054C>T	gnomAD
rs1186256423	p.Val370Leu	missense variant	-	NC_000002.12:g.27478054C>G	gnomAD
rs1486217518	p.Ser374Ter	stop gained	-	NC_000002.12:g.27478041G>C	gnomAD
rs765740203	p.Gly380Ala	missense variant	-	NC_000002.12:g.27478023C>G	ExAC,gnomAD
rs1229493761	p.Asn385His	missense variant	-	NC_000002.12:g.27478009T>G	gnomAD
rs137868356	p.Arg386Gln	missense variant	-	NC_000002.12:g.27478005C>T	ESP,ExAC,TOPMed,gnomAD
rs745554539	p.Leu387Arg	missense variant	-	NC_000002.12:g.27478002A>C	ExAC,TOPMed,gnomAD
rs140989917	p.Ile390Val	missense variant	-	NC_000002.12:g.27477612T>C	ESP,ExAC,gnomAD
rs781225823	p.Ala391Val	missense variant	-	NC_000002.12:g.27477608G>A	ExAC,TOPMed,gnomAD
rs754968647	p.Trp392Cys	missense variant	-	NC_000002.12:g.27477604C>A	TOPMed
rs754968647	p.Trp392Cys	missense variant	-	NC_000002.12:g.27477604C>G	TOPMed
rs548321926	p.Trp392Ter	stop gained	-	NC_000002.12:g.27477605C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gly397Asp	missense variant	-	NC_000002.12:g.27477590C>T	NCI-TCGA
rs920629119	p.Gly397Ser	missense variant	-	NC_000002.12:g.27477591C>T	gnomAD
rs1208328991	p.Asn398Ser	missense variant	-	NC_000002.12:g.27477587T>C	gnomAD
NCI-TCGA novel	p.Lys400Thr	missense variant	-	NC_000002.12:g.27477581T>G	NCI-TCGA
COSM4093599	p.Lys400Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27477581T>C	NCI-TCGA Cosmic
COSM4691858	p.Phe402Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27477574G>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu404Asp	missense variant	-	NC_000002.12:g.27477568T>A	NCI-TCGA
rs143661402	p.Asn405Lys	missense variant	-	NC_000002.12:g.27477565A>C	ESP,ExAC,TOPMed
COSM3426356	p.Asn407Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27477561T>C	NCI-TCGA Cosmic
rs1470090185	p.Asn407Lys	missense variant	-	NC_000002.12:g.27477559A>C	TOPMed,gnomAD
rs1218425125	p.Cys409Arg	missense variant	-	NC_000002.12:g.27477317A>G	TOPMed
RCV000083277	p.Ile411Asn	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27477310A>T	ClinVar
rs776747406	p.Ile411Val	missense variant	-	NC_000002.12:g.27477311T>C	ExAC,gnomAD
rs776747406	p.Ile411Phe	missense variant	-	NC_000002.12:g.27477311T>A	ExAC,gnomAD
rs587777085	p.Ile411Asn	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27477310A>T	UniProt,dbSNP
VAR_070957	p.Ile411Asn	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27477310A>T	UniProt
rs587777085	p.Ile411Asn	missense variant	-	NC_000002.12:g.27477310A>T	-
rs1455214961	p.Phe412Leu	missense variant	-	NC_000002.12:g.27477308A>G	gnomAD
rs962054597	p.Asn413Ser	missense variant	-	NC_000002.12:g.27477304T>C	TOPMed,gnomAD
rs1014536412	p.Gly415Glu	missense variant	-	NC_000002.12:g.27477298C>T	TOPMed
rs746834072	p.Gly415Arg	missense variant	-	NC_000002.12:g.27477299C>T	ExAC,TOPMed,gnomAD
rs779907319	p.Glu416Gly	missense variant	-	NC_000002.12:g.27477295T>C	ExAC,TOPMed,gnomAD
rs771727703	p.Tyr422Asn	missense variant	-	NC_000002.12:g.27477278A>T	ExAC,TOPMed,gnomAD
rs145145347	p.Asn425Asp	missense variant	-	NC_000002.12:g.27477269T>C	ESP
rs1160625178	p.Leu428Val	missense variant	-	NC_000002.12:g.27477260G>C	TOPMed
COSM4860125	p.Gly429Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27477257C>A	NCI-TCGA Cosmic
rs149985362	p.Val431Leu	missense variant	-	NC_000002.12:g.27477251C>A	ESP,TOPMed,gnomAD
rs149985362	p.Val431Ile	missense variant	-	NC_000002.12:g.27477251C>T	ESP,TOPMed,gnomAD
rs757812352	p.Arg432Cys	missense variant	-	NC_000002.12:g.27477248G>A	ExAC,TOPMed,gnomAD
rs1327376049	p.Arg432His	missense variant	-	NC_000002.12:g.27477247C>T	TOPMed,gnomAD
rs753911273	p.Met436Val	missense variant	-	NC_000002.12:g.27477236T>C	ExAC
rs1359453358	p.Pro438Ala	missense variant	-	NC_000002.12:g.27477230G>C	gnomAD
rs367930028	p.Pro438Leu	missense variant	-	NC_000002.12:g.27477229G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His439ThrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.27477227G>-	NCI-TCGA
rs756627876	p.His439Asp	missense variant	-	NC_000002.12:g.27477227G>C	ExAC,gnomAD
rs756627876	p.His439Tyr	missense variant	-	NC_000002.12:g.27477227G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ile441Val	missense variant	-	NC_000002.12:g.27477221T>C	NCI-TCGA
rs751965696	p.Arg444Pro	missense variant	-	NC_000002.12:g.27476721C>G	ExAC,TOPMed,gnomAD
rs1038040281	p.Arg444Cys	missense variant	-	NC_000002.12:g.27476722G>A	TOPMed
rs1038040281	p.Arg444Gly	missense variant	-	NC_000002.12:g.27476722G>C	TOPMed
rs751965696	p.Arg444His	missense variant	-	NC_000002.12:g.27476721C>T	ExAC,TOPMed,gnomAD
rs956566812	p.Ile445Leu	missense variant	-	NC_000002.12:g.27476719T>G	TOPMed
rs905062419	p.Asn446His	missense variant	-	NC_000002.12:g.27476716T>G	TOPMed,gnomAD
rs1286965773	p.Glu447Gly	missense variant	-	NC_000002.12:g.27476712T>C	TOPMed
rs1275650132	p.Arg448Thr	missense variant	-	NC_000002.12:g.27476709C>G	gnomAD
rs1356156155	p.Gln450Leu	missense variant	-	NC_000002.12:g.27476703T>A	TOPMed
rs753504432	p.Arg451Gln	missense variant	-	NC_000002.12:g.27476700C>T	ExAC,TOPMed,gnomAD
rs1213400658	p.Arg451Ter	stop gained	-	NC_000002.12:g.27476701G>A	gnomAD
rs753504432	p.Arg451Pro	missense variant	-	NC_000002.12:g.27476700C>G	ExAC,TOPMed,gnomAD
rs866980509	p.Gly452Arg	missense variant	-	NC_000002.12:g.27476698C>T	TOPMed,gnomAD
rs763724145	p.Gly452Glu	missense variant	-	NC_000002.12:g.27476697C>T	ExAC,gnomAD
rs760084772	p.Thr453Arg	missense variant	-	NC_000002.12:g.27476694G>C	ExAC,gnomAD
rs767353049	p.Asn456Lys	missense variant	-	NC_000002.12:g.27476684A>C	ExAC,gnomAD
rs528303561	p.Asn456Ile	missense variant	-	NC_000002.12:g.27476685T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1326760228	p.Leu459Trp	missense variant	-	NC_000002.12:g.27476676A>C	gnomAD
rs371521736	p.Leu459Met	missense variant	-	NC_000002.12:g.27476677A>T	ESP,ExAC,TOPMed,gnomAD
rs201572769	p.Tyr461Ter	stop gained	-	NC_000002.12:g.27476669A>T	1000Genomes,ExAC,gnomAD
rs144558865	p.Tyr461His	missense variant	-	NC_000002.12:g.27476671A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu462Pro	missense variant	-	NC_000002.12:g.27476667A>G	NCI-TCGA
rs1236901349	p.Ile463Thr	missense variant	-	NC_000002.12:g.27476664A>G	TOPMed
VAR_070958	p.Asp464_Ile465del	inframe_deletion	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10) [MIM:615630]	-	UniProt
rs769963997	p.Ile465Asn	missense variant	-	NC_000002.12:g.27476658A>T	ExAC,gnomAD
rs1411834388	p.Lys466Glu	missense variant	-	NC_000002.12:g.27476656T>C	gnomAD
COSM6158109	p.Lys466Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27476655T>C	NCI-TCGA Cosmic
COSM1019711	p.Lys466Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27476654C>A	NCI-TCGA Cosmic
rs748144351	p.Lys466Asn	missense variant	-	NC_000002.12:g.27476654C>G	ExAC,gnomAD
COSM3839294	p.Ala469Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27476646G>T	NCI-TCGA Cosmic
rs1203009355	p.Ile470Met	missense variant	-	NC_000002.12:g.27476642T>C	TOPMed,gnomAD
rs563278243	p.Ile470Val	missense variant	-	NC_000002.12:g.27476644T>C	1000Genomes,ExAC,gnomAD
rs780688146	p.Asp472Gly	missense variant	-	NC_000002.12:g.27472359T>C	ExAC,gnomAD
rs747544155	p.Asp472Asn	missense variant	-	NC_000002.12:g.27472360C>T	ExAC,gnomAD
rs772607856	p.Leu473Val	missense variant	-	NC_000002.12:g.27472357G>C	ExAC,TOPMed,gnomAD
rs746233698	p.Ile474Val	missense variant	-	NC_000002.12:g.27472354T>C	ExAC,gnomAD
RCV000480937	p.Gly476Ser	missense variant	-	NC_000002.12:g.27472348C>T	ClinVar
RCV000653125	p.Gly476Ser	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27472348C>T	ClinVar
rs147303046	p.Gly476Ser	missense variant	-	NC_000002.12:g.27472348C>T	ESP,ExAC,TOPMed,gnomAD
rs374979653	p.Asn478Asp	missense variant	-	NC_000002.12:g.27472342T>C	ESP,ExAC,TOPMed,gnomAD
rs143491198	p.Asn478Ile	missense variant	-	NC_000002.12:g.27472341T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1432674990	p.Gly480Val	missense variant	-	NC_000002.12:g.27472335C>A	gnomAD
rs1347140160	p.Thr481Ile	missense variant	-	NC_000002.12:g.27472332G>A	gnomAD
rs771104054	p.Val482Ile	missense variant	-	NC_000002.12:g.27472330C>T	ExAC,TOPMed,gnomAD
rs61740250	p.Val482Gly	missense variant	-	NC_000002.12:g.27472329A>C	ESP,ExAC,TOPMed,gnomAD
rs1176061294	p.Ser483Asn	missense variant	-	NC_000002.12:g.27472326C>T	gnomAD
NCI-TCGA novel	p.Glu485Ter	stop gained	-	NC_000002.12:g.27472321C>A	NCI-TCGA
rs921473865	p.Glu485Asp	missense variant	-	NC_000002.12:g.27472319C>A	TOPMed
rs368967337	p.Arg487His	missense variant	-	NC_000002.12:g.27472314C>T	ESP,ExAC,TOPMed,gnomAD
rs143520040	p.Arg487Gly	missense variant	-	NC_000002.12:g.27472315G>C	1000Genomes,ESP,ExAC,gnomAD
rs368967337	p.Arg487Leu	missense variant	-	NC_000002.12:g.27472314C>A	ESP,ExAC,TOPMed,gnomAD
rs143520040	p.Arg487Cys	missense variant	-	NC_000002.12:g.27472315G>A	1000Genomes,ESP,ExAC,gnomAD
rs975612115	p.Val488Leu	missense variant	-	NC_000002.12:g.27472312C>A	TOPMed
rs750169290	p.Glu492Lys	missense variant	-	NC_000002.12:g.27472300C>T	ExAC,TOPMed,gnomAD
rs750169290	p.Glu492Ter	stop gained	-	NC_000002.12:g.27472300C>A	ExAC,TOPMed,gnomAD
rs1487066977	p.Asn494Ser	missense variant	-	NC_000002.12:g.27472293T>C	gnomAD
rs776869287	p.Thr496Asn	missense variant	-	NC_000002.12:g.27472287G>T	ExAC,gnomAD
rs776869287	p.Thr496Ile	missense variant	-	NC_000002.12:g.27472287G>A	ExAC,gnomAD
NCI-TCGA novel	p.His498Leu	missense variant	-	NC_000002.12:g.27472281T>A	NCI-TCGA
rs768671584	p.Leu500Phe	missense variant	-	NC_000002.12:g.27472276G>A	ExAC,gnomAD
rs760810237	p.Leu501Val	missense variant	-	NC_000002.12:g.27472273G>C	ExAC,gnomAD
rs772696044	p.Arg503Gly	missense variant	-	NC_000002.12:g.27472267T>C	ExAC,gnomAD
rs772696044	p.Arg503Trp	missense variant	-	NC_000002.12:g.27472267T>A	ExAC,gnomAD
rs779152335	p.Arg505Trp	missense variant	-	NC_000002.12:g.27472261G>A	ExAC,TOPMed,gnomAD
rs747777887	p.Arg505Gln	missense variant	-	NC_000002.12:g.27472260C>T	ExAC,TOPMed,gnomAD
rs747777887	p.Arg505Leu	missense variant	-	NC_000002.12:g.27472260C>A	ExAC,TOPMed,gnomAD
rs371183917	p.Leu507Phe	missense variant	-	NC_000002.12:g.27472255G>A	ESP,TOPMed
rs144868723	p.Arg508His	missense variant	-	NC_000002.12:g.27472251C>T	ESP,ExAC,TOPMed,gnomAD
rs371011000	p.Arg508Cys	missense variant	-	NC_000002.12:g.27472252G>A	ExAC,gnomAD
rs1397236212	p.Leu509Phe	missense variant	-	NC_000002.12:g.27471093C>A	gnomAD
rs773577174	p.His510Asp	missense variant	-	NC_000002.12:g.27471092G>C	ExAC,gnomAD
rs959481954	p.Asp513Asn	missense variant	-	NC_000002.12:g.27471083C>T	TOPMed
COSM1019710	p.Ser516Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27471074T>G	NCI-TCGA Cosmic
rs375640327	p.Ser518Cys	missense variant	-	NC_000002.12:g.27471067G>C	ESP,ExAC,TOPMed,gnomAD
rs746692750	p.Thr520Lys	missense variant	-	NC_000002.12:g.27471061G>T	ExAC,gnomAD
rs775072437	p.Met521Val	missense variant	-	NC_000002.12:g.27471059T>C	ExAC,gnomAD
rs1437298206	p.Ile522Phe	missense variant	-	NC_000002.12:g.27471056T>A	gnomAD
rs1237426653	p.Leu523Phe	missense variant	-	NC_000002.12:g.27471053G>A	TOPMed,gnomAD
rs1194191840	p.Asn524Ser	missense variant	-	NC_000002.12:g.27471049T>C	gnomAD
rs771614435	p.Ser527Pro	missense variant	-	NC_000002.12:g.27471041A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met529Ile	missense variant	-	NC_000002.12:g.27471033C>T	NCI-TCGA
rs745382278	p.Met529Val	missense variant	-	NC_000002.12:g.27471035T>C	ExAC,TOPMed,gnomAD
rs1355860343	p.Met529Ile	missense variant	-	NC_000002.12:g.27471033C>A	TOPMed,gnomAD
rs770918577	p.Gln530His	missense variant	-	NC_000002.12:g.27471030C>A	ExAC,TOPMed,gnomAD
rs1171766936	p.Ser535Asn	missense variant	-	NC_000002.12:g.27471016C>T	TOPMed
rs1356591582	p.Asp536Asn	missense variant	-	NC_000002.12:g.27471014C>T	TOPMed
rs868020223	p.Val537Met	missense variant	-	NC_000002.12:g.27471011C>T	TOPMed,gnomAD
rs937413382	p.Val539Ala	missense variant	-	NC_000002.12:g.27471004A>G	TOPMed
rs777743328	p.Arg543Ter	stop gained	-	NC_000002.12:g.27470993G>A	ExAC,TOPMed,gnomAD
rs755926439	p.Arg543Gln	missense variant	-	NC_000002.12:g.27470992C>T	ExAC,TOPMed,gnomAD
rs1338644209	p.Val548Ile	missense variant	-	NC_000002.12:g.27470978C>T	gnomAD
rs1297668400	p.Trp549Ser	missense variant	-	NC_000002.12:g.27470974C>G	TOPMed
rs369863525	p.Ile552Thr	missense variant	-	NC_000002.12:g.27470965A>G	ESP,ExAC,TOPMed,gnomAD
rs766310940	p.Pro555Ala	missense variant	-	NC_000002.12:g.27470957G>C	ExAC,TOPMed,gnomAD
RCV000083275	p.Val558Ter	frameshift	Short-rib thoracic dysplasia 10 with polydactyly	NC_000002.12:g.27470949_27470950TC[4]	ClinVar
rs763516858	p.Met560Val	missense variant	-	NC_000002.12:g.27470942T>C	ExAC,TOPMed,gnomAD
rs750884605	p.Phe561Leu	missense variant	-	NC_000002.12:g.27470939A>G	ExAC,gnomAD
RCV000616730	p.Thr562Ser	missense variant	-	NC_000002.12:g.27470935G>C	ClinVar
rs61743977	p.Thr562Ser	missense variant	-	NC_000002.12:g.27470935G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000536785	p.Thr562Ser	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27470935G>C	ClinVar
rs148710037	p.Arg564Thr	missense variant	-	NC_000002.12:g.27470929C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs148710037	p.Arg564Lys	missense variant	-	NC_000002.12:g.27470929C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758357901	p.Gly565Asp	missense variant	-	NC_000002.12:g.27465881C>T	ExAC,gnomAD
rs765731241	p.Asp566Glu	missense variant	-	NC_000002.12:g.27465877A>T	ExAC,TOPMed,gnomAD
rs750974416	p.Asp566Val	missense variant	-	NC_000002.12:g.27465878T>A	ExAC,gnomAD
rs762225989	p.Val567Asp	missense variant	-	NC_000002.12:g.27465875A>T	ExAC,gnomAD
rs1280542878	p.Val567Ile	missense variant	-	NC_000002.12:g.27465876C>T	TOPMed,gnomAD
rs1318361155	p.Ile568Thr	missense variant	-	NC_000002.12:g.27465872A>G	gnomAD
rs1339393349	p.Gly569Ser	missense variant	-	NC_000002.12:g.27465870C>T	gnomAD
NCI-TCGA novel	p.Glu571Asp	missense variant	-	NC_000002.12:g.27465862C>G	NCI-TCGA
COSM1019709	p.Glu571Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27465862C>A	NCI-TCGA Cosmic
rs377512468	p.Arg572Trp	missense variant	-	NC_000002.12:g.27465861G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764302265	p.Arg572Gln	missense variant	-	NC_000002.12:g.27465860C>T	ExAC,TOPMed,gnomAD
rs140967266	p.Gly573Asp	missense variant	-	NC_000002.12:g.27465857C>T	ESP,ExAC,TOPMed,gnomAD
RCV000523406	p.Gly574Arg	missense variant	-	NC_000002.12:g.27465855C>T	ClinVar
rs773348843	p.Gly574Glu	missense variant	-	NC_000002.12:g.27465854C>T	ExAC,gnomAD
rs762521619	p.Gly574Arg	missense variant	-	NC_000002.12:g.27465855C>T	ExAC,TOPMed,gnomAD
rs762521619	p.Gly574Arg	missense variant	-	NC_000002.12:g.27465855C>G	ExAC,TOPMed,gnomAD
rs1423106803	p.Glu578Lys	missense variant	-	NC_000002.12:g.27465843C>T	TOPMed,gnomAD
rs1473813339	p.Met580Ile	missense variant	-	NC_000002.12:g.27465835C>T	gnomAD
rs1182666600	p.Met580Lys	missense variant	-	NC_000002.12:g.27465836A>T	gnomAD
NCI-TCGA novel	p.Gly584Arg	missense variant	-	NC_000002.12:g.27465825C>G	NCI-TCGA
rs748040733	p.Ala589Asp	missense variant	-	NC_000002.12:g.27465809G>T	ExAC,TOPMed,gnomAD
rs1260583521	p.Thr591Arg	missense variant	-	NC_000002.12:g.27465803G>C	gnomAD
rs1197078794	p.Asp593His	missense variant	-	NC_000002.12:g.27465798C>G	gnomAD
rs1317689933	p.Gly595Cys	missense variant	-	NC_000002.12:g.27465792C>A	gnomAD
rs1273422852	p.Leu596Ile	missense variant	-	NC_000002.12:g.27465789G>T	gnomAD
rs747273253	p.Ile597Met	missense variant	-	NC_000002.12:g.27465784G>C	ExAC,TOPMed,gnomAD
COSM2940141	p.Ile597Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27465786T>C	NCI-TCGA Cosmic
rs1376320850	p.Glu598Lys	missense variant	-	NC_000002.12:g.27465783C>T	gnomAD
rs753790065	p.Phe599Leu	missense variant	-	NC_000002.12:g.27465778A>C	ExAC,TOPMed,gnomAD
rs1485292515	p.Gly600Arg	missense variant	-	NC_000002.12:g.27465777C>T	TOPMed
COSM4913464	p.Thr601Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27465774T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala602Ser	missense variant	-	NC_000002.12:g.27465771C>A	NCI-TCGA
rs758542768	p.Ile603Thr	missense variant	-	NC_000002.12:g.27465767A>G	ExAC,gnomAD
rs1442344603	p.Ile603Val	missense variant	-	NC_000002.12:g.27465768T>C	TOPMed,gnomAD
rs1329239436	p.Asp604Gly	missense variant	-	NC_000002.12:g.27465764T>C	gnomAD
rs1395027766	p.Asp605Glu	missense variant	-	NC_000002.12:g.27465760A>T	gnomAD
rs1464844246	p.Asp605Tyr	missense variant	-	NC_000002.12:g.27465762C>A	gnomAD
rs745938799	p.Gly606Ser	missense variant	-	NC_000002.12:g.27465759C>T	ExAC,TOPMed,gnomAD
rs757770112	p.Asn607Ser	missense variant	-	NC_000002.12:g.27465755T>C	ExAC,gnomAD
rs1162697506	p.Asn607His	missense variant	-	NC_000002.12:g.27465756T>G	gnomAD
rs754306688	p.Tyr608Phe	missense variant	-	NC_000002.12:g.27465752T>A	ExAC,gnomAD
rs1177391799	p.Ile609Val	missense variant	-	NC_000002.12:g.27465750T>C	gnomAD
rs144890293	p.Arg610Gln	missense variant	-	NC_000002.12:g.27465746C>T	ESP,ExAC,TOPMed,gnomAD
rs376749789	p.Arg610Trp	missense variant	-	NC_000002.12:g.27465747G>A	ESP,ExAC,TOPMed,gnomAD
rs1274474647	p.Ala611Glu	missense variant	-	NC_000002.12:g.27465516G>T	TOPMed,gnomAD
rs1366731306	p.Ala611Thr	missense variant	-	NC_000002.12:g.27465517C>T	gnomAD
rs750055951	p.Ala613Gly	missense variant	-	NC_000002.12:g.27465510G>C	ExAC,gnomAD
rs1403737174	p.Thr617Pro	missense variant	-	NC_000002.12:g.27465499T>G	TOPMed
rs761380977	p.Leu618Met	missense variant	-	NC_000002.12:g.27465496G>T	ExAC,gnomAD
rs1274946261	p.Met620Ile	missense variant	-	NC_000002.12:g.27465488C>A	TOPMed
NCI-TCGA novel	p.Thr621Ile	missense variant	-	NC_000002.12:g.27465486G>A	NCI-TCGA
NCI-TCGA novel	p.Glu623Lys	missense variant	-	NC_000002.12:g.27465481C>T	NCI-TCGA
rs753850356	p.Glu625Lys	missense variant	-	NC_000002.12:g.27465475C>T	ExAC,gnomAD
rs763931671	p.Ala626Val	missense variant	-	NC_000002.12:g.27465471G>A	ExAC,gnomAD
rs375875806	p.Met627Ile	missense variant	-	NC_000002.12:g.27465467C>T	ESP,ExAC,gnomAD
rs1178869931	p.Met627Val	missense variant	-	NC_000002.12:g.27465469T>C	gnomAD
rs147288623	p.Met627Thr	missense variant	-	NC_000002.12:g.27465468A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Trp628GlnPheSerTerUnk	frameshift	-	NC_000002.12:g.27465466_27465467insCATTG	NCI-TCGA
rs771817223	p.Lys629Glu	missense variant	-	NC_000002.12:g.27465463T>C	ExAC,gnomAD
rs1215200186	p.Lys633Gln	missense variant	-	NC_000002.12:g.27465451T>G	gnomAD
rs771040188	p.Ala635Ser	missense variant	-	NC_000002.12:g.27465445C>A	ExAC,gnomAD
COSM6158111	p.Glu637Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27465437C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala638Val	missense variant	-	NC_000002.12:g.27465435G>A	NCI-TCGA
NCI-TCGA novel	p.Ala638Ser	missense variant	-	NC_000002.12:g.27465436C>A	NCI-TCGA
rs749325695	p.Ile643Val	missense variant	-	NC_000002.12:g.27465421T>C	ExAC,gnomAD
rs1208007190	p.Ile643Thr	missense variant	-	NC_000002.12:g.27465420A>G	gnomAD
rs371919234	p.Ala644Glu	missense variant	-	NC_000002.12:g.27465417G>T	ESP,ExAC,TOPMed,gnomAD
rs371919234	p.Ala644Val	missense variant	-	NC_000002.12:g.27465417G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe648IlePheSerTerUnkUnk	frameshift	-	NC_000002.12:g.27463177_27463178insT	NCI-TCGA
rs1357665651	p.Gln653Ter	stop gained	-	NC_000002.12:g.27463162G>A	TOPMed
rs748624846	p.Ala655Thr	missense variant	-	NC_000002.12:g.27463156C>T	ExAC,gnomAD
rs370407165	p.Ala655Val	missense variant	-	NC_000002.12:g.27463155G>A	ESP,ExAC,TOPMed,gnomAD
rs769179241	p.Lys656Asn	missense variant	-	NC_000002.12:g.27463151T>G	ExAC,TOPMed,gnomAD
rs190366845	p.Ala657Pro	missense variant	-	NC_000002.12:g.27463150C>G	1000Genomes,ExAC,gnomAD
rs376890875	p.Arg658Gln	missense variant	-	NC_000002.12:g.27463146C>T	ESP,ExAC,TOPMed,gnomAD
rs1279330875	p.Phe659Cys	missense variant	-	NC_000002.12:g.27463143A>C	TOPMed
rs150739354	p.His661Gln	missense variant	-	NC_000002.12:g.27463136A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1485160871	p.Glu662Val	missense variant	-	NC_000002.12:g.27463134T>A	TOPMed
rs1180508789	p.Thr663Ile	missense variant	-	NC_000002.12:g.27463131G>A	gnomAD
rs1456264303	p.Asn664Asp	missense variant	-	NC_000002.12:g.27463129T>C	gnomAD
rs199631887	p.Asn664Ser	missense variant	-	NC_000002.12:g.27463128T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu665Gly	missense variant	-	NC_000002.12:g.27463125T>C	NCI-TCGA
rs1195410569	p.Glu665Lys	missense variant	-	NC_000002.12:g.27463126C>T	TOPMed,gnomAD
rs1357266863	p.Glu665Val	missense variant	-	NC_000002.12:g.27463125T>A	gnomAD
RCV000722206	p.Glu665Met	missense variant	-	NC_000002.12:g.27463125_27463126delinsAT	ClinVar
rs1267478654	p.Ile666Val	missense variant	-	NC_000002.12:g.27463123T>C	gnomAD
rs777173046	p.Ile666Thr	missense variant	-	NC_000002.12:g.27463122A>G	ExAC,TOPMed,gnomAD
rs755632444	p.Ala667Thr	missense variant	-	NC_000002.12:g.27463120C>T	ExAC,TOPMed,gnomAD
rs1243013972	p.Val670Leu	missense variant	-	NC_000002.12:g.27463111C>A	TOPMed,gnomAD
rs1243013972	p.Val670Ile	missense variant	-	NC_000002.12:g.27463111C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ser671Tyr	missense variant	-	NC_000002.12:g.27463107G>T	NCI-TCGA
rs138511988	p.Arg672Gln	missense variant	-	NC_000002.12:g.27463104C>T	ESP,ExAC,TOPMed,gnomAD
rs201921339	p.Arg672Trp	missense variant	-	NC_000002.12:g.27463105G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751371317	p.Glu673Gln	missense variant	-	NC_000002.12:g.27463102C>G	ExAC,TOPMed,gnomAD
rs776862463	p.Gly675Asp	missense variant	-	NC_000002.12:g.27462792C>T	ExAC,gnomAD
rs1487353722	p.Gly675Cys	missense variant	-	NC_000002.12:g.27462793C>A	gnomAD
rs761290683	p.Gly676Arg	missense variant	-	NC_000002.12:g.27462790C>T	ExAC,gnomAD
rs1223309009	p.Glu677Lys	missense variant	-	NC_000002.12:g.27462787C>T	gnomAD
rs374276538	p.Gly678Val	missense variant	-	NC_000002.12:g.27462783C>A	ESP,ExAC,TOPMed,gnomAD
rs746240262	p.Thr679Ala	missense variant	-	NC_000002.12:g.27462781T>C	ExAC,TOPMed,gnomAD
rs369169776	p.Thr679Ile	missense variant	-	NC_000002.12:g.27462780G>A	ESP,ExAC,TOPMed,gnomAD
rs376869679	p.Asp680Tyr	missense variant	-	NC_000002.12:g.27462778C>A	ESP,ExAC,TOPMed,gnomAD
rs747734541	p.Tyr682Asp	missense variant	-	NC_000002.12:g.27462772A>C	ExAC,TOPMed,gnomAD
rs747734541	p.Tyr682His	missense variant	-	NC_000002.12:g.27462772A>G	ExAC,TOPMed,gnomAD
rs1022355035	p.Tyr682Ser	missense variant	-	NC_000002.12:g.27462771T>G	TOPMed
NCI-TCGA novel	p.Gln683Glu	missense variant	-	NC_000002.12:g.27462769G>C	NCI-TCGA
rs780709991	p.Gln683His	missense variant	-	NC_000002.12:g.27462767C>G	ExAC,TOPMed,gnomAD
rs1400020833	p.Val684Ile	missense variant	-	NC_000002.12:g.27462766C>T	gnomAD
rs561676433	p.Arg685Leu	missense variant	-	NC_000002.12:g.27462762C>A	ExAC,TOPMed,gnomAD
rs754435174	p.Arg685Ter	stop gained	-	NC_000002.12:g.27462763G>A	ExAC,gnomAD
rs561676433	p.Arg685Gln	missense variant	-	NC_000002.12:g.27462762C>T	ExAC,TOPMed,gnomAD
rs145601549	p.Arg687Leu	missense variant	-	NC_000002.12:g.27462756C>A	ESP,ExAC,TOPMed,gnomAD
rs145601549	p.Arg687His	missense variant	-	NC_000002.12:g.27462756C>T	ESP,ExAC,TOPMed,gnomAD
rs145946722	p.Arg687Cys	missense variant	-	NC_000002.12:g.27462757G>A	ESP,ExAC,TOPMed,gnomAD
rs1476877230	p.Leu688Val	missense variant	-	NC_000002.12:g.27462754G>C	gnomAD
rs61740784	p.Met690Val	missense variant	-	NC_000002.12:g.27462748T>C	ExAC,gnomAD
rs1052440631	p.Lys696Glu	missense variant	-	NC_000002.12:g.27462730T>C	TOPMed
rs1319038813	p.Glu699Lys	missense variant	-	NC_000002.12:g.27462721C>T	gnomAD
rs1266071723	p.Phe702Val	missense variant	-	NC_000002.12:g.27462712A>C	TOPMed
rs1216475837	p.Gln705His	missense variant	-	NC_000002.12:g.27462701C>G	gnomAD
rs140506322	p.Val708Met	missense variant	-	NC_000002.12:g.27461830C>T	ESP,ExAC,TOPMed,gnomAD
rs1404950371	p.Glu710Ala	missense variant	-	NC_000002.12:g.27461823T>G	TOPMed
rs144620711	p.Ala711Thr	missense variant	-	NC_000002.12:g.27461821C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs766775165	p.Met712Ile	missense variant	-	NC_000002.12:g.27461816C>T	ExAC,gnomAD
rs751959802	p.Met712Thr	missense variant	-	NC_000002.12:g.27461817A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly713Ser	missense variant	-	NC_000002.12:g.27461815C>T	NCI-TCGA
rs763269392	p.Gly713Val	missense variant	-	NC_000002.12:g.27461814C>A	ExAC,TOPMed,gnomAD
rs763269392	p.Gly713Asp	missense variant	-	NC_000002.12:g.27461814C>T	ExAC,TOPMed,gnomAD
rs776328902	p.Met714Leu	missense variant	-	NC_000002.12:g.27461812T>A	ExAC,gnomAD
rs768283981	p.Met714Ile	missense variant	-	NC_000002.12:g.27461810C>T	ExAC,gnomAD
rs1300745406	p.Tyr715Phe	missense variant	-	NC_000002.12:g.27461808T>A	TOPMed
rs760187043	p.Tyr715His	missense variant	-	NC_000002.12:g.27461809A>G	ExAC,gnomAD
rs113996042	p.Gln716His	missense variant	-	NC_000002.12:g.27461804C>A	1000Genomes,ExAC,gnomAD
rs1369834210	p.Gln716Arg	missense variant	-	NC_000002.12:g.27461805T>C	TOPMed
rs886986273	p.Glu717Ter	stop gained	-	NC_000002.12:g.27461803C>A	gnomAD
rs144645349	p.His719Tyr	missense variant	-	NC_000002.12:g.27461797G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000083278	p.Arg720Ter	frameshift	Short-rib thoracic dysplasia 10 without polydactyly	NC_000002.12:g.27461795del	ClinVar
rs202089120	p.Arg720His	missense variant	-	NC_000002.12:g.27461793C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147744868	p.Arg720Cys	missense variant	-	NC_000002.12:g.27461794G>A	ESP,ExAC,TOPMed,gnomAD
rs1273638828	p.Trp721Ser	missense variant	-	NC_000002.12:g.27461790C>G	TOPMed
rs1302574160	p.Trp721Ter	stop gained	-	NC_000002.12:g.27461789C>T	gnomAD
rs1458885390	p.Glu723Val	missense variant	-	NC_000002.12:g.27461784T>A	TOPMed
rs1362931814	p.Ile725Leu	missense variant	-	NC_000002.12:g.27461779T>G	gnomAD
rs188779949	p.Ala726Thr	missense variant	-	NC_000002.12:g.27461776C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1426370080	p.Val727Ala	missense variant	-	NC_000002.12:g.27461772A>G	gnomAD
rs748281342	p.Ala728Val	missense variant	-	NC_000002.12:g.27461769G>A	ExAC,gnomAD
rs774487712	p.His733Tyr	missense variant	-	NC_000002.12:g.27461514G>A	ExAC,gnomAD
rs774487712	p.His733Asn	missense variant	-	NC_000002.12:g.27461514G>T	ExAC,gnomAD
rs547973047	p.His733Pro	missense variant	-	NC_000002.12:g.27461513T>G	1000Genomes,ExAC,gnomAD
RCV000549433	p.Ala735Asp	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27461507G>T	ClinVar
rs773174861	p.Ala735Asp	missense variant	-	NC_000002.12:g.27461507G>T	ExAC,TOPMed,gnomAD
rs769429891	p.Lys738Asn	missense variant	-	NC_000002.12:g.27461497C>A	ExAC
rs781236948	p.Arg740His	missense variant	-	NC_000002.12:g.27461492C>T	ExAC,gnomAD
rs187728607	p.Arg740Cys	missense variant	-	NC_000002.12:g.27461493G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs984586780	p.Arg741Cys	missense variant	-	NC_000002.12:g.27461490G>A	TOPMed,gnomAD
rs1011923461	p.Arg741His	missense variant	-	NC_000002.12:g.27461489C>T	TOPMed,gnomAD
rs755149584	p.Ser742Arg	missense variant	-	NC_000002.12:g.27461487T>G	ExAC,gnomAD
rs747042638	p.Ser742Asn	missense variant	-	NC_000002.12:g.27461486C>T	ExAC,gnomAD
rs200253619	p.Tyr744His	missense variant	-	NC_000002.12:g.27461481A>G	1000Genomes,ExAC,gnomAD
rs201991482	p.Tyr744Cys	missense variant	-	NC_000002.12:g.27461480T>C	ExAC,TOPMed
NCI-TCGA novel	p.Gln745His	missense variant	-	NC_000002.12:g.27461476C>A	NCI-TCGA
rs765641043	p.Gln745Pro	missense variant	-	NC_000002.12:g.27461477T>G	ExAC,TOPMed,gnomAD
rs765641043	p.Gln745Leu	missense variant	-	NC_000002.12:g.27461477T>A	ExAC,TOPMed,gnomAD
rs757532132	p.Trp746Gly	missense variant	-	NC_000002.12:g.27461475A>C	ExAC,gnomAD
rs1381740412	p.Trp746Ter	stop gained	-	NC_000002.12:g.27461474C>T	gnomAD
rs1393583850	p.Trp746Ter	stop gained	-	NC_000002.12:g.27461473C>T	gnomAD
rs757532132	p.Trp746Arg	missense variant	-	NC_000002.12:g.27461475A>G	ExAC,gnomAD
rs201346238	p.Met748Ile	missense variant	-	NC_000002.12:g.27461467C>T	1000Genomes,ExAC,gnomAD
rs767064547	p.Asp749Asn	missense variant	-	NC_000002.12:g.27461466C>T	ExAC,gnomAD
rs759174400	p.Gln751Arg	missense variant	-	NC_000002.12:g.27461459T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln752Lys	missense variant	-	NC_000002.12:g.27461457G>T	NCI-TCGA
rs1466900344	p.Glu754Gly	missense variant	-	NC_000002.12:g.27461450T>C	gnomAD
rs78631901	p.Arg755Pro	missense variant	-	NC_000002.12:g.27461447C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1432342966	p.Arg755Ter	stop gained	-	NC_000002.12:g.27461448G>A	TOPMed
rs78631901	p.Arg755Gln	missense variant	-	NC_000002.12:g.27461447C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769666948	p.Glu758Gln	missense variant	-	NC_000002.12:g.27461439C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gln760His	missense variant	-	NC_000002.12:g.27461431C>A	NCI-TCGA
rs376411555	p.Glu761Lys	missense variant	-	NC_000002.12:g.27461430C>T	ExAC,gnomAD
rs376411555	p.Glu761Gln	missense variant	-	NC_000002.12:g.27461430C>G	ExAC,gnomAD
rs776965352	p.Ser762Gly	missense variant	-	NC_000002.12:g.27461427T>C	ExAC,gnomAD
rs367874978	p.Asp765Asn	missense variant	-	NC_000002.12:g.27461418C>T	ESP,TOPMed,gnomAD
rs1238600885	p.Leu767Pro	missense variant	-	NC_000002.12:g.27461411A>G	gnomAD
rs1304667688	p.Ala768Thr	missense variant	-	NC_000002.12:g.27461409C>T	TOPMed
rs145926013	p.Ile770Val	missense variant	-	NC_000002.12:g.27461403T>C	ESP,TOPMed,gnomAD
rs747166388	p.Ile770Met	missense variant	-	NC_000002.12:g.27461401G>C	ExAC,gnomAD
rs780136801	p.Leu772Phe	missense variant	-	NC_000002.12:g.27461397G>A	ExAC,gnomAD
rs1249852160	p.Tyr773Cys	missense variant	-	NC_000002.12:g.27461393T>C	gnomAD
rs772088813	p.Tyr773Ter	stop gained	-	NC_000002.12:g.27461392G>T	ExAC,gnomAD
rs1317766293	p.Ala776Val	missense variant	-	NC_000002.12:g.27461384G>A	gnomAD
rs1322476579	p.Ala776Ser	missense variant	-	NC_000002.12:g.27461385C>A	gnomAD
rs201229839	p.Pro779Ser	missense variant	-	NC_000002.12:g.27461376G>A	gnomAD
rs779389219	p.Ala783Val	missense variant	-	NC_000002.12:g.27461363G>A	ExAC,gnomAD
rs137906877	p.Arg784Trp	missense variant	-	NC_000002.12:g.27461361G>A	ESP,ExAC,TOPMed,gnomAD
rs370097039	p.Arg784Gln	missense variant	-	NC_000002.12:g.27461360C>T	ESP,ExAC,TOPMed,gnomAD
rs778136710	p.Leu785Val	missense variant	-	NC_000002.12:g.27461358G>C	ExAC,gnomAD
rs1161560541	p.Val786Gly	missense variant	-	NC_000002.12:g.27461354A>C	gnomAD
rs1280203564	p.Val786Leu	missense variant	-	NC_000002.12:g.27461355C>G	TOPMed
rs202024173	p.Arg789Ter	stop gained	-	NC_000002.12:g.27461346G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs148237432	p.Arg789Gln	missense variant	-	NC_000002.12:g.27461345C>T	ESP,ExAC,TOPMed,gnomAD
rs148237432	p.Arg789Leu	missense variant	-	NC_000002.12:g.27461345C>A	ESP,ExAC,TOPMed,gnomAD
COSM4093593	p.Glu790Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27461341C>A	NCI-TCGA Cosmic
rs200080072	p.Glu790Lys	missense variant	-	NC_000002.12:g.27461343C>T	gnomAD
rs1195506811	p.Leu792Pro	missense variant	-	NC_000002.12:g.27461336A>G	gnomAD
rs1294096542	p.Asn795Ser	missense variant	-	NC_000002.12:g.27461327T>C	gnomAD
rs765068834	p.Glu797Asp	missense variant	-	NC_000002.12:g.27461320C>G	ExAC,gnomAD
NCI-TCGA novel	p.Leu798Met	missense variant	-	NC_000002.12:g.27461319G>T	NCI-TCGA
COSM721411	p.Glu800Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27461313C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ile802Val	missense variant	-	NC_000002.12:g.27461307T>C	NCI-TCGA
rs776294904	p.Ile802Ser	missense variant	-	NC_000002.12:g.27461306A>C	ExAC,TOPMed,gnomAD
rs776294904	p.Ile802Thr	missense variant	-	NC_000002.12:g.27461306A>G	ExAC,TOPMed,gnomAD
rs1305821240	p.Thr803Ile	missense variant	-	NC_000002.12:g.27461303G>A	gnomAD
rs1387032631	p.Ala805Ser	missense variant	-	NC_000002.12:g.27461298C>A	gnomAD
rs367649864	p.Ile807Met	missense variant	-	NC_000002.12:g.27461290G>C	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly809Trp	missense variant	-	NC_000002.12:g.27461286C>A	NCI-TCGA
NCI-TCGA novel	p.Glu810AsnPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.27461283C>-	NCI-TCGA
rs373768002	p.Glu810Asp	missense variant	-	NC_000002.12:g.27461281T>A	ESP,ExAC,TOPMed,gnomAD
rs373768002	p.Glu810Asp	missense variant	-	NC_000002.12:g.27461281T>G	ESP,ExAC,TOPMed,gnomAD
rs1419576695	p.Glu810Lys	missense variant	-	NC_000002.12:g.27461283C>T	gnomAD
rs933347695	p.Leu811Val	missense variant	-	NC_000002.12:g.27461280G>C	TOPMed
rs933347695	p.Leu811Ile	missense variant	-	NC_000002.12:g.27461280G>T	TOPMed
rs1036729851	p.Glu813Lys	missense variant	-	NC_000002.12:g.27461274C>T	TOPMed,gnomAD
rs1363065401	p.Arg814Lys	missense variant	-	NC_000002.12:g.27461270C>T	gnomAD
rs374015331	p.Leu818Phe	missense variant	-	NC_000002.12:g.27461084G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu820Gln	missense variant	-	NC_000002.12:g.27461078C>G	NCI-TCGA
rs1317963506	p.Lys821Glu	missense variant	-	NC_000002.12:g.27461075T>C	gnomAD
rs1219610636	p.Lys821Asn	missense variant	-	NC_000002.12:g.27461073C>G	TOPMed
rs749811228	p.His823Tyr	missense variant	-	NC_000002.12:g.27461069G>A	ExAC,gnomAD
rs1224641303	p.Pro825Thr	missense variant	-	NC_000002.12:g.27461063G>T	gnomAD
RCV000722341	p.Gln826Ter	nonsense	-	NC_000002.12:g.27461060G>A	ClinVar
rs773740605	p.Gln826His	missense variant	-	NC_000002.12:g.27461058C>G	ExAC,gnomAD
rs370989190	p.Lys827Asn	missense variant	-	NC_000002.12:g.27461055C>G	ESP,ExAC,gnomAD
rs781639232	p.Leu829Val	missense variant	-	NC_000002.12:g.27461051G>C	ExAC,gnomAD
rs758124299	p.Glu830Gln	missense variant	-	NC_000002.12:g.27461048C>G	ExAC,gnomAD
rs758124299	p.Glu830Lys	missense variant	-	NC_000002.12:g.27461048C>T	ExAC,gnomAD
rs377514145	p.Tyr832Ter	stop gained	-	NC_000002.12:g.27461040G>T	ESP,ExAC,gnomAD
rs778307866	p.Arg833Cys	missense variant	-	NC_000002.12:g.27461039G>A	ExAC,TOPMed,gnomAD
rs778307866	p.Arg833Gly	missense variant	-	NC_000002.12:g.27461039G>C	ExAC,TOPMed,gnomAD
rs756767071	p.Arg833His	missense variant	-	NC_000002.12:g.27461038C>T	ExAC,TOPMed,gnomAD
rs1474467674	p.Gly835Ser	missense variant	-	NC_000002.12:g.27461033C>T	gnomAD
rs537094673	p.Asn836Lys	missense variant	-	NC_000002.12:g.27461028G>C	1000Genomes,ExAC,gnomAD
rs752494593	p.Ala837Thr	missense variant	-	NC_000002.12:g.27461027C>T	ExAC,TOPMed,gnomAD
COSM1019706	p.Phe838Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27461022G>T	NCI-TCGA Cosmic
rs1032027895	p.Met839Leu	missense variant	-	NC_000002.12:g.27461021T>G	TOPMed
rs762431558	p.Ala841Val	missense variant	-	NC_000002.12:g.27459829G>A	ExAC,TOPMed,gnomAD
rs1241730843	p.Ala841Thr	missense variant	-	NC_000002.12:g.27461015C>T	gnomAD
rs1281470948	p.Val842Gly	missense variant	-	NC_000002.12:g.27459826A>C	gnomAD
rs769181255	p.Glu843Ter	stop gained	-	NC_000002.12:g.27459824C>A	ExAC,gnomAD
rs1335434774	p.Ala845Thr	missense variant	-	NC_000002.12:g.27459818C>T	gnomAD
rs199784373	p.Arg846Pro	missense variant	-	NC_000002.12:g.27459814C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs761095604	p.Arg846Ter	stop gained	-	NC_000002.12:g.27459815G>A	ExAC,TOPMed,gnomAD
rs199784373	p.Arg846Leu	missense variant	-	NC_000002.12:g.27459814C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199784373	p.Arg846Gln	missense variant	-	NC_000002.12:g.27459814C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs748853554	p.Leu847Met	missense variant	-	NC_000002.12:g.27459812A>T	ExAC,TOPMed,gnomAD
rs1401639649	p.Pro850Ala	missense variant	-	NC_000002.12:g.27459803G>C	gnomAD
rs149748534	p.Val851Leu	missense variant	-	NC_000002.12:g.27459800C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000606515	p.Val851Leu	missense variant	-	NC_000002.12:g.27459800C>A	ClinVar
COSM4093590	p.Glu857Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27459780C>A	NCI-TCGA Cosmic
rs1312524639	p.Glu858Asp	missense variant	-	NC_000002.12:g.27459777C>A	TOPMed
rs748125718	p.Trp860Arg	missense variant	-	NC_000002.12:g.27459773A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp862ThrPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.27459767C>-	NCI-TCGA
NCI-TCGA novel	p.Asp862GlyPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.27459766_27459767insC	NCI-TCGA
rs1290925131	p.Asp862Glu	missense variant	-	NC_000002.12:g.27459765G>T	gnomAD
COSM4393568	p.Asp862Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27459767C>T	NCI-TCGA Cosmic
rs565473328	p.His863Asp	missense variant	-	NC_000002.12:g.27459764G>C	1000Genomes,ExAC,gnomAD
rs758674130	p.Val865Met	missense variant	-	NC_000002.12:g.27459758C>T	ExAC,gnomAD
rs139229844	p.Gln866Arg	missense variant	-	NC_000002.12:g.27459754T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000622689	p.Gln866Arg	missense variant	Inborn genetic diseases	NC_000002.12:g.27459754T>C	ClinVar
RCV000797619	p.Gln866Arg	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27459754T>C	ClinVar
rs765455796	p.Gln867Ter	stop gained	-	NC_000002.12:g.27459752G>A	ExAC,gnomAD
rs571708583	p.Lys868Glu	missense variant	-	NC_000002.12:g.27459749T>C	1000Genomes,ExAC,gnomAD
rs754461372	p.Leu870Phe	missense variant	-	NC_000002.12:g.27459743G>A	ExAC,gnomAD
rs1432058371	p.Ala872Val	missense variant	-	NC_000002.12:g.27459736G>A	gnomAD
NCI-TCGA novel	p.Ala873Asp	missense variant	-	NC_000002.12:g.27459733G>T	NCI-TCGA
rs1400491164	p.Ile874Thr	missense variant	-	NC_000002.12:g.27459730A>G	gnomAD
rs1157302608	p.Ile874Val	missense variant	-	NC_000002.12:g.27459731T>C	gnomAD
COSM2153594	p.His876Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27459725G>T	NCI-TCGA Cosmic
rs1479155814	p.Ile878Thr	missense variant	-	NC_000002.12:g.27459718A>G	gnomAD
rs1045778698	p.Ile878Val	missense variant	-	NC_000002.12:g.27459719T>C	TOPMed,gnomAD
rs1186631165	p.Glu879Lys	missense variant	-	NC_000002.12:g.27459716C>T	TOPMed,gnomAD
rs1240302436	p.Arg881Gly	missense variant	-	NC_000002.12:g.27459710T>C	gnomAD
rs1309394469	p.Cys882Trp	missense variant	-	NC_000002.12:g.27459519G>C	gnomAD
rs1214538397	p.Ile884Phe	missense variant	-	NC_000002.12:g.27459515T>A	gnomAD
rs975731134	p.Lys885Glu	missense variant	-	NC_000002.12:g.27459512T>C	TOPMed,gnomAD
rs764042345	p.Ala886Val	missense variant	-	NC_000002.12:g.27459508G>A	ExAC,gnomAD
rs761267426	p.Ile887Thr	missense variant	-	NC_000002.12:g.27459505A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu888Lys	missense variant	-	NC_000002.12:g.27459503C>T	NCI-TCGA
rs1011528696	p.Ala889Ser	missense variant	-	NC_000002.12:g.27459500C>A	TOPMed
rs202216329	p.Ala890Thr	missense variant	-	NC_000002.12:g.27459497C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu891Met	missense variant	-	NC_000002.12:g.27459494G>T	NCI-TCGA
rs1431975735	p.Gly892Asp	missense variant	-	NC_000002.12:g.27459490C>T	TOPMed
rs772910546	p.Ala893Val	missense variant	-	NC_000002.12:g.27459487G>A	ExAC,gnomAD
rs370531520	p.Arg894Cys	missense variant	-	NC_000002.12:g.27459485G>A	ESP,ExAC,TOPMed,gnomAD
rs561927411	p.Arg894His	missense variant	-	NC_000002.12:g.27459484C>T	TOPMed,gnomAD
rs1320948238	p.Lys897Asn	missense variant	-	NC_000002.12:g.27459474C>A	TOPMed
rs761385238	p.Lys897Ter	stop gained	-	NC_000002.12:g.27459476T>A	ExAC,gnomAD
rs777438968	p.Lys898Arg	missense variant	-	NC_000002.12:g.27459472T>C	gnomAD
rs776148073	p.Ala899Thr	missense variant	-	NC_000002.12:g.27459470C>T	ExAC,gnomAD
rs1178042477	p.Tyr901Cys	missense variant	-	NC_000002.12:g.27459463T>C	TOPMed,gnomAD
rs549430636	p.Ile902Val	missense variant	-	NC_000002.12:g.27459461T>C	1000Genomes,ExAC,gnomAD
rs527662034	p.Ile902Met	missense variant	-	NC_000002.12:g.27459459T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1360727366	p.Asp904Gly	missense variant	-	NC_000002.12:g.27459454T>C	gnomAD
rs1285096531	p.Leu905Val	missense variant	-	NC_000002.12:g.27459452G>C	TOPMed
RCV000083272	p.Gln906Ter	nonsense	Short-rib thoracic dysplasia 10 without polydactyly	NC_000002.12:g.27459449G>A	ClinVar
rs587777081	p.Gln906Ter	stop gained	-	NC_000002.12:g.27459449G>A	ExAC,TOPMed,gnomAD
RCV000422827	p.Arg908Gln	missense variant	-	NC_000002.12:g.27459442C>T	ClinVar
RCV000525258	p.Arg908Gln	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27459442C>T	ClinVar
rs61747073	p.Arg908Gln	missense variant	-	NC_000002.12:g.27459442C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745644146	p.Arg908Trp	missense variant	-	NC_000002.12:g.27459443G>A	ExAC,TOPMed,gnomAD
rs1307237642	p.Thr910Ala	missense variant	-	NC_000002.12:g.27459437T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser912Phe	missense variant	-	NC_000002.12:g.27459430G>A	NCI-TCGA
NCI-TCGA novel	p.Tyr915His	missense variant	-	NC_000002.12:g.27459422A>G	NCI-TCGA
rs749474609	p.Tyr915Cys	missense variant	-	NC_000002.12:g.27459421T>C	ExAC,gnomAD
rs1217523253	p.Pro916Ala	missense variant	-	NC_000002.12:g.27459419G>C	gnomAD
rs756120365	p.Val918Met	missense variant	-	NC_000002.12:g.27459413C>T	ExAC,TOPMed,gnomAD
rs374488959	p.Gln920Ter	stop gained	-	NC_000002.12:g.27459407G>A	ESP,TOPMed
rs1423737027	p.His921Tyr	missense variant	-	NC_000002.12:g.27459404G>A	gnomAD
rs750338419	p.Tyr922Ter	stop gained	-	NC_000002.12:g.27459400dup	ExAC,TOPMed,gnomAD
rs767901253	p.Tyr922Cys	missense variant	-	NC_000002.12:g.27459400T>C	ExAC,TOPMed,gnomAD
RCV000515844	p.Tyr922Ter	nonsense	Short rib-polydactyly syndrome, Majewski type (SRTD6)	NC_000002.12:g.27459400dup	ClinVar
rs767901253	p.Tyr922Phe	missense variant	-	NC_000002.12:g.27459400T>A	ExAC,TOPMed,gnomAD
rs142409945	p.Ser924Ala	missense variant	-	NC_000002.12:g.27459395A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000542399	p.Ser924Ala	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27459395A>C	ClinVar
RCV000624406	p.Ser924Ala	missense variant	Inborn genetic diseases	NC_000002.12:g.27459395A>C	ClinVar
rs1248705918	p.Leu925Gln	missense variant	-	NC_000002.12:g.27459391A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln926HisPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.27459387_27459388insCTTGTGGGCTTGTTCCCAACGACCAGCCTGGG	NCI-TCGA
rs376069249	p.Gln926Ter	stop gained	-	NC_000002.12:g.27459389G>A	gnomAD
rs72850632	p.Ala931Ser	missense variant	-	NC_000002.12:g.27458865C>A	1000Genomes,gnomAD
rs1000172880	p.Lys937Glu	missense variant	-	NC_000002.12:g.27458847T>C	-
rs761248577	p.Arg940Gln	missense variant	-	NC_000002.12:g.27458837C>T	ExAC,TOPMed,gnomAD
rs761248577	p.Arg940Leu	missense variant	-	NC_000002.12:g.27458837C>A	ExAC,TOPMed,gnomAD
rs760316903	p.Arg940Gly	missense variant	-	NC_000002.12:g.27458838G>C	ExAC,TOPMed,gnomAD
rs760316903	p.Arg940Trp	missense variant	-	NC_000002.12:g.27458838G>A	ExAC,TOPMed,gnomAD
rs1387697027	p.Thr941Ala	missense variant	-	NC_000002.12:g.27458835T>C	TOPMed,gnomAD
rs1320104632	p.Lys942Glu	missense variant	-	NC_000002.12:g.27458832T>C	gnomAD
rs767088050	p.Asp943His	missense variant	-	NC_000002.12:g.27458829C>G	ExAC,gnomAD
rs759597621	p.Ala944Val	missense variant	-	NC_000002.12:g.27458825G>A	ExAC,gnomAD
rs1212261759	p.Ala944Thr	missense variant	-	NC_000002.12:g.27458826C>T	gnomAD
rs1477777983	p.Ile945Val	missense variant	-	NC_000002.12:g.27458823T>C	gnomAD
COSM1407465	p.Ile945Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27458822A>G	NCI-TCGA Cosmic
rs1196018893	p.Met947Arg	missense variant	-	NC_000002.12:g.27458816A>C	gnomAD
rs774401568	p.Met947Val	missense variant	-	NC_000002.12:g.27458817T>C	ExAC,TOPMed,gnomAD
rs1196018893	p.Met947Thr	missense variant	-	NC_000002.12:g.27458816A>G	gnomAD
rs770919382	p.Tyr948Cys	missense variant	-	NC_000002.12:g.27458813T>C	ExAC,gnomAD
rs1275938087	p.Thr949Asn	missense variant	-	NC_000002.12:g.27458810G>T	TOPMed
rs1204609495	p.Ala951Val	missense variant	-	NC_000002.12:g.27458804G>A	TOPMed
rs1306498449	p.Ala951Thr	missense variant	-	NC_000002.12:g.27458805C>T	TOPMed
rs1252622525	p.Gly952Val	missense variant	-	NC_000002.12:g.27458801C>A	TOPMed
RCV000433350	p.Arg953His	missense variant	-	NC_000002.12:g.27458798C>T	ClinVar
rs704793	p.Arg953His	missense variant	-	NC_000002.12:g.27458798C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762645007	p.Arg953Cys	missense variant	-	NC_000002.12:g.27458799G>A	ExAC,TOPMed,gnomAD
rs1481312135	p.Trp954Cys	missense variant	-	NC_000002.12:g.27458794C>A	TOPMed
rs1481312135	p.Trp954Ter	stop gained	-	NC_000002.12:g.27458794C>T	TOPMed
NCI-TCGA novel	p.Glu955Gly	missense variant	-	NC_000002.12:g.27458792T>C	NCI-TCGA
rs144450109	p.Gln956Ter	stop gained	-	NC_000002.12:g.27458790G>A	ESP,ExAC,TOPMed,gnomAD
rs901720815	p.Ala957Val	missense variant	-	NC_000002.12:g.27458786G>A	gnomAD
rs748358110	p.His958Pro	missense variant	-	NC_000002.12:g.27458783T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys959Asn	missense variant	-	NC_000002.12:g.27458779C>A	NCI-TCGA
rs1225204664	p.Lys959Arg	missense variant	-	NC_000002.12:g.27458780T>C	gnomAD
rs1271431771	p.Lys959Glu	missense variant	-	NC_000002.12:g.27458781T>C	gnomAD
rs772908148	p.Ala961Thr	missense variant	-	NC_000002.12:g.27458220C>T	ExAC,gnomAD
rs769578794	p.Ala961Val	missense variant	-	NC_000002.12:g.27458219G>A	ExAC,gnomAD
rs769578794	p.Ala961Gly	missense variant	-	NC_000002.12:g.27458219G>C	ExAC,gnomAD
rs541501287	p.Met962Val	missense variant	-	NC_000002.12:g.27458217T>C	ExAC,TOPMed,gnomAD
rs1164843618	p.Cys964Arg	missense variant	-	NC_000002.12:g.27458211A>G	TOPMed,gnomAD
rs1009534874	p.Arg966Thr	missense variant	-	NC_000002.12:g.27458204C>G	TOPMed,gnomAD
rs768789372	p.Pro967Leu	missense variant	-	NC_000002.12:g.27458201G>A	ExAC,gnomAD
rs747076360	p.Asp969Gly	missense variant	-	NC_000002.12:g.27458195T>C	ExAC,gnomAD
rs1470282388	p.Val972Leu	missense variant	-	NC_000002.12:g.27458187C>G	gnomAD
rs1461476129	p.Leu973Val	missense variant	-	NC_000002.12:g.27458184G>C	TOPMed
rs772460896	p.Ile975Phe	missense variant	-	NC_000002.12:g.27458178T>A	ExAC
rs1430982419	p.Gln977Glu	missense variant	-	NC_000002.12:g.27458172G>C	TOPMed
rs746338436	p.Ala978Ser	missense variant	-	NC_000002.12:g.27458169C>A	ExAC,gnomAD
rs779195226	p.Met981Ile	missense variant	-	NC_000002.12:g.27458158C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln984His	missense variant	-	NC_000002.12:g.27458149C>G	NCI-TCGA
NCI-TCGA novel	p.Gln984Ter	stop gained	-	NC_000002.12:g.27458151G>A	NCI-TCGA
NCI-TCGA novel	p.Gly985Asp	missense variant	-	NC_000002.12:g.27458147C>T	NCI-TCGA
rs369780709	p.Gly985Ser	missense variant	-	NC_000002.12:g.27458148C>T	ESP,ExAC,TOPMed,gnomAD
rs201853736	p.Arg988His	missense variant	-	NC_000002.12:g.27458138C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs780982171	p.Arg988Cys	missense variant	-	NC_000002.12:g.27458139G>A	ExAC,TOPMed,gnomAD
rs751123473	p.Glu991Lys	missense variant	-	NC_000002.12:g.27458130C>T	ExAC,TOPMed,gnomAD
rs751123473	p.Glu991Gln	missense variant	-	NC_000002.12:g.27458130C>G	ExAC,TOPMed,gnomAD
rs994624984	p.Tyr994Cys	missense variant	-	NC_000002.12:g.27457971T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val995Met	missense variant	-	NC_000002.12:g.27457969C>T	NCI-TCGA
rs1181361766	p.Val997Ile	missense variant	-	NC_000002.12:g.27457963C>T	TOPMed
rs1187088472	p.Gln998Arg	missense variant	-	NC_000002.12:g.27457959T>C	gnomAD
rs753483115	p.Gln998His	missense variant	-	NC_000002.12:g.27457958T>G	ExAC,TOPMed,gnomAD
rs569281478	p.Pro1000Ala	missense variant	-	NC_000002.12:g.27457954G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs775659689	p.Pro1000His	missense variant	-	NC_000002.12:g.27457953G>T	ExAC,gnomAD
rs775659689	p.Pro1000Leu	missense variant	-	NC_000002.12:g.27457953G>A	ExAC,gnomAD
rs569281478	p.Pro1000Ser	missense variant	-	NC_000002.12:g.27457954G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs369466577	p.Leu1002His	missense variant	-	NC_000002.12:g.27457947A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1158866336	p.Ala1003Pro	missense variant	-	NC_000002.12:g.27457945C>G	TOPMed
rs1263997748	p.Ala1003Val	missense variant	-	NC_000002.12:g.27457944G>A	gnomAD
NCI-TCGA novel	p.Thr1005Ile	missense variant	-	NC_000002.12:g.27457938G>A	NCI-TCGA
rs774240568	p.Thr1005Ala	missense variant	-	NC_000002.12:g.27457939T>C	ExAC,TOPMed,gnomAD
rs1301146365	p.Met1006Val	missense variant	-	NC_000002.12:g.27457936T>C	gnomAD
rs1215624237	p.Tyr1007Ter	stop gained	-	NC_000002.12:g.27457931G>T	gnomAD
rs1459077573	p.Tyr1007Ser	missense variant	-	NC_000002.12:g.27457932T>G	TOPMed
rs372047259	p.Lys1008Arg	missense variant	-	NC_000002.12:g.27457929T>C	ExAC,gnomAD
rs372047259	p.Lys1008Thr	missense variant	-	NC_000002.12:g.27457929T>G	ExAC,gnomAD
rs201607202	p.His1010Gln	missense variant	-	NC_000002.12:g.27457922G>T	ExAC,TOPMed,gnomAD
rs1453412968	p.Tyr1013Ter	stop gained	-	NC_000002.12:g.27457913A>T	TOPMed
rs1382174815	p.Tyr1013His	missense variant	-	NC_000002.12:g.27457915A>G	TOPMed
rs200961120	p.Asp1014Val	missense variant	-	NC_000002.12:g.27457911T>A	ExAC,TOPMed,gnomAD
rs766104575	p.Asp1015Glu	missense variant	-	NC_000002.12:g.27457907G>T	ExAC,TOPMed,gnomAD
rs779749730	p.Asp1015Asn	missense variant	-	NC_000002.12:g.27457909C>T	ExAC,TOPMed,gnomAD
rs1358114348	p.Arg1018Cys	missense variant	-	NC_000002.12:g.27457900G>A	TOPMed,gnomAD
rs375879787	p.Arg1018His	missense variant	-	NC_000002.12:g.27457899C>T	ESP,ExAC,TOPMed,gnomAD
COSM3580630	p.Arg1018Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27457900G>C	NCI-TCGA Cosmic
rs778217809	p.Gly1021Trp	missense variant	-	NC_000002.12:g.27457891C>A	ExAC,gnomAD
NCI-TCGA novel	p.Lys1022SerPheSerTerUnk	frameshift	-	NC_000002.12:g.27457876_27457889CTGGATGGTGCTTC>-	NCI-TCGA
rs1187626381	p.Lys1022Asn	missense variant	-	NC_000002.12:g.27457886C>G	TOPMed,gnomAD
rs1187626381	p.Lys1022Asn	missense variant	-	NC_000002.12:g.27457886C>A	TOPMed,gnomAD
rs753725281	p.His1023Gln	missense variant	-	NC_000002.12:g.27457883G>T	ExAC,TOPMed,gnomAD
rs1015472885	p.His1024Tyr	missense variant	-	NC_000002.12:g.27457882G>A	TOPMed
RCV000523121	p.Pro1025Ala	missense variant	-	NC_000002.12:g.27457879G>C	ClinVar
rs61747068	p.Pro1025Ala	missense variant	-	NC_000002.12:g.27457879G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs866372690	p.Pro1025Leu	missense variant	-	NC_000002.12:g.27457878G>A	TOPMed,gnomAD
rs1182424796	p.Asp1026His	missense variant	-	NC_000002.12:g.27457876C>G	TOPMed
rs1365374137	p.Leu1027Ile	missense variant	-	NC_000002.12:g.27457873G>T	TOPMed
NCI-TCGA novel	p.Leu1028Phe	missense variant	-	NC_000002.12:g.27457870G>A	NCI-TCGA
rs1183854151	p.Leu1028Val	missense variant	-	NC_000002.12:g.27457870G>C	gnomAD
NCI-TCGA novel	p.Asp1030Asn	missense variant	-	NC_000002.12:g.27457864C>T	NCI-TCGA
rs1174581398	p.Asp1030Gly	missense variant	-	NC_000002.12:g.27457863T>C	TOPMed
rs752920969	p.His1032Tyr	missense variant	-	NC_000002.12:g.27457858G>A	ExAC,TOPMed,gnomAD
rs370373855	p.His1034Tyr	missense variant	-	NC_000002.12:g.27457852G>A	ESP,TOPMed
rs767795893	p.His1034Arg	missense variant	-	NC_000002.12:g.27457851T>C	ExAC,gnomAD
rs1394415431	p.Gly1036Ser	missense variant	-	NC_000002.12:g.27457846C>T	TOPMed
rs1198342678	p.Leu1039Pro	missense variant	-	NC_000002.12:g.27457751A>G	TOPMed
rs1469030001	p.Ala1041Ser	missense variant	-	NC_000002.12:g.27457746C>A	gnomAD
COSM5048180	p.Glu1042Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27457743C>T	NCI-TCGA Cosmic
rs1267555539	p.Glu1042Gln	missense variant	-	NC_000002.12:g.27457743C>G	gnomAD
rs755990223	p.Arg1044Gln	missense variant	-	NC_000002.12:g.27457736C>T	ExAC,gnomAD
rs777676427	p.Arg1044Ter	stop gained	-	NC_000002.12:g.27457737G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu1045Ile	missense variant	-	NC_000002.12:g.27457734G>T	NCI-TCGA
rs1307351360	p.Gln1046Arg	missense variant	-	NC_000002.12:g.27457730T>C	gnomAD
rs780813074	p.Glu1049Asp	missense variant	-	NC_000002.12:g.27457720C>G	ExAC,gnomAD
rs138139922	p.Glu1049Ala	missense variant	-	NC_000002.12:g.27457721T>G	ESP,ExAC,TOPMed,gnomAD
rs149431727	p.His1051Tyr	missense variant	-	NC_000002.12:g.27457716G>A	1000Genomes,ExAC
rs1306904086	p.Tyr1052Ter	stop gained	-	NC_000002.12:g.27457711G>C	gnomAD
rs763117647	p.Glu1054Gln	missense variant	-	NC_000002.12:g.27457707C>G	ExAC,TOPMed,gnomAD
rs763117647	p.Glu1054Lys	missense variant	-	NC_000002.12:g.27457707C>T	ExAC,TOPMed,gnomAD
rs965308990	p.Glu1057Lys	missense variant	-	NC_000002.12:g.27457698C>T	TOPMed
rs1235067668	p.Lys1059Arg	missense variant	-	NC_000002.12:g.27457691T>C	gnomAD
rs560379580	p.Ala1060Thr	missense variant	-	NC_000002.12:g.27457689C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777083938	p.Met1064Thr	missense variant	-	NC_000002.12:g.27457676A>G	ExAC,gnomAD
rs1160168254	p.Met1064Val	missense variant	-	NC_000002.12:g.27457677T>C	TOPMed,gnomAD
rs1409801629	p.Tyr1065His	missense variant	-	NC_000002.12:g.27457674A>G	gnomAD
rs148997142	p.Arg1066Trp	missense variant	-	NC_000002.12:g.27457671G>A	ESP,ExAC,TOPMed,gnomAD
rs759282959	p.Arg1066Gln	missense variant	-	NC_000002.12:g.27457670C>T	ExAC,TOPMed,gnomAD
rs1208430808	p.Gly1069Glu	missense variant	-	NC_000002.12:g.27457661C>T	gnomAD
COSM4833762	p.Glu1073Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27457650C>G	NCI-TCGA Cosmic
rs1488393984	p.Ala1074Thr	missense variant	-	NC_000002.12:g.27457647C>T	gnomAD
rs770486522	p.Arg1076Gly	missense variant	-	NC_000002.12:g.27457641T>C	ExAC,gnomAD
rs1008321384	p.Gly1082Arg	missense variant	-	NC_000002.12:g.27456638C>T	TOPMed,gnomAD
rs762555189	p.Gly1083Val	missense variant	-	NC_000002.12:g.27456634C>A	ExAC,TOPMed,gnomAD
rs762555189	p.Gly1083Glu	missense variant	-	NC_000002.12:g.27456634C>T	ExAC,TOPMed,gnomAD
rs201708546	p.Asn1085Ser	missense variant	-	NC_000002.12:g.27456628T>C	1000Genomes,ExAC,gnomAD
rs1248268202	p.Ala1086Val	missense variant	-	NC_000002.12:g.27456625G>A	TOPMed
rs1170913416	p.His1089Arg	missense variant	-	NC_000002.12:g.27456616T>C	gnomAD
rs76076247	p.Val1090Met	missense variant	-	NC_000002.12:g.27456614C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1317947227	p.Tyr1092Cys	missense variant	-	NC_000002.12:g.27456607T>C	TOPMed,gnomAD
rs1317947227	p.Tyr1092Ser	missense variant	-	NC_000002.12:g.27456607T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Lys1096Asn	missense variant	-	NC_000002.12:g.27456594C>G	NCI-TCGA
rs768550580	p.Lys1096Arg	missense variant	-	NC_000002.12:g.27456595T>C	ExAC,gnomAD
rs746791122	p.Gly1099Val	missense variant	-	NC_000002.12:g.27456586C>A	ExAC,TOPMed,gnomAD
rs746791122	p.Gly1099Glu	missense variant	-	NC_000002.12:g.27456586C>T	ExAC,TOPMed,gnomAD
rs1253404730	p.Gly1100Arg	missense variant	-	NC_000002.12:g.27456584C>T	gnomAD
COSM4853934	p.Glu1101Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27456581C>T	NCI-TCGA Cosmic
rs1339921326	p.Ala1102Pro	missense variant	-	NC_000002.12:g.27456578C>G	gnomAD
rs1276771537	p.Ala1103Ser	missense variant	-	NC_000002.12:g.27456575C>A	gnomAD
rs200867341	p.Arg1105Thr	missense variant	-	NC_000002.12:g.27456568C>G	gnomAD
rs746036739	p.Glu1114Val	missense variant	-	NC_000002.12:g.27456541T>A	ExAC,gnomAD
rs746036739	p.Glu1114Ala	missense variant	-	NC_000002.12:g.27456541T>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala1115Ser	missense variant	-	NC_000002.12:g.27456539C>A	NCI-TCGA
rs1332196216	p.Ala1116Thr	missense variant	-	NC_000002.12:g.27456536C>T	gnomAD
rs1399274328	p.Val1117Ala	missense variant	-	NC_000002.12:g.27456532A>G	gnomAD
rs754427502	p.Ala1120Thr	missense variant	-	NC_000002.12:g.27456524C>T	ExAC,TOPMed,gnomAD
rs754427502	p.Ala1120Ser	missense variant	-	NC_000002.12:g.27456524C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1121Pro	missense variant	-	NC_000002.12:g.27456521C>G	NCI-TCGA
rs764523112	p.Ala1121Val	missense variant	-	NC_000002.12:g.27456520G>A	ExAC,gnomAD
rs1466577551	p.Asn1123Tyr	missense variant	-	NC_000002.12:g.27456515T>A	TOPMed
rs146615936	p.Asn1123Ser	missense variant	-	NC_000002.12:g.27456514T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs931407294	p.Cys1124Arg	missense variant	-	NC_000002.12:g.27456512A>G	TOPMed
rs867680794	p.Ser1125Phe	missense variant	-	NC_000002.12:g.27454658G>A	-
rs1158499870	p.Glu1127Gln	missense variant	-	NC_000002.12:g.27454653C>G	TOPMed
COSM6158113	p.Glu1127Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27454653C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala1129Val	missense variant	-	NC_000002.12:g.27454646G>A	NCI-TCGA
RCV000653130	p.Arg1134Leu	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27454631C>A	ClinVar
rs139223261	p.Arg1134Trp	missense variant	-	NC_000002.12:g.27454632G>A	ESP,ExAC,TOPMed,gnomAD
rs148624326	p.Arg1134Leu	missense variant	-	NC_000002.12:g.27454631C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772059680	p.Ala1136Val	missense variant	-	NC_000002.12:g.27454625G>A	ExAC,gnomAD
rs772059680	p.Ala1136Gly	missense variant	-	NC_000002.12:g.27454625G>C	ExAC,gnomAD
rs759417569	p.Leu1137Val	missense variant	-	NC_000002.12:g.27454623G>C	ExAC,TOPMed,gnomAD
rs1457402081	p.Thr1141Ile	missense variant	-	NC_000002.12:g.27454610G>A	gnomAD
rs144121974	p.Glu1143Lys	missense variant	-	NC_000002.12:g.27454605C>T	ESP,ExAC,TOPMed,gnomAD
rs749475657	p.Val1144Phe	missense variant	-	NC_000002.12:g.27454602C>A	ExAC,gnomAD
rs202111577	p.His1145Gln	missense variant	-	NC_000002.12:g.27454597A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202111577	p.His1145Gln	missense variant	-	NC_000002.12:g.27454597A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His1145Tyr	missense variant	-	NC_000002.12:g.27454599G>A	NCI-TCGA
rs1352823033	p.Tyr1148Cys	missense variant	-	NC_000002.12:g.27454589T>C	TOPMed
rs1235174997	p.Ala1149Ser	missense variant	-	NC_000002.12:g.27454587C>A	TOPMed,gnomAD
rs1477017022	p.Met1150Thr	missense variant	-	NC_000002.12:g.27454583A>G	gnomAD
rs147411312	p.Met1150Ile	missense variant	-	NC_000002.12:g.27454582C>T	ESP,ExAC,TOPMed,gnomAD
rs769882549	p.Met1150Val	missense variant	-	NC_000002.12:g.27454584T>C	ExAC,gnomAD
rs559668627	p.Phe1151Leu	missense variant	-	NC_000002.12:g.27454579G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1465461618	p.Asp1154Asn	missense variant	-	NC_000002.12:g.27454572C>T	gnomAD
rs751929782	p.Glu1155Lys	missense variant	-	NC_000002.12:g.27454569C>T	ExAC,gnomAD
COSM3580629	p.Gly1156Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27454418C>T	NCI-TCGA Cosmic
rs748244135	p.Glu1159Lys	missense variant	-	NC_000002.12:g.27454409C>T	ExAC,gnomAD
COSM5862338	p.Ala1161Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27454402G>A	NCI-TCGA Cosmic
rs1242470983	p.Ala1163Val	missense variant	-	NC_000002.12:g.27454396G>A	gnomAD
rs1461207792	p.Ile1166Val	missense variant	-	NC_000002.12:g.27454388T>C	TOPMed
rs139334344	p.Arg1167Thr	missense variant	-	NC_000002.12:g.27454384C>G	1000Genomes
rs747503760	p.Pro1171Ala	missense variant	-	NC_000002.12:g.27454373G>C	ExAC,TOPMed,gnomAD
rs747503760	p.Pro1171Ser	missense variant	-	NC_000002.12:g.27454373G>A	ExAC,TOPMed,gnomAD
rs1358493781	p.Lys1172Thr	missense variant	-	NC_000002.12:g.27454369T>G	TOPMed,gnomAD
rs780334650	p.Val1175Ile	missense variant	-	NC_000002.12:g.27454361C>T	ExAC,gnomAD
rs1371714157	p.Leu1176Phe	missense variant	-	NC_000002.12:g.27454358G>A	TOPMed
rs747778476	p.Val1179Phe	missense variant	-	NC_000002.12:g.27454158C>A	ExAC,gnomAD
rs746868013	p.His1180Tyr	missense variant	-	NC_000002.12:g.27454155G>A	ExAC,TOPMed,gnomAD
rs1229705209	p.Asn1181Asp	missense variant	-	NC_000002.12:g.27454152T>C	gnomAD
rs751505458	p.Ala1186Thr	missense variant	-	NC_000002.12:g.27454137C>T	ExAC
NCI-TCGA novel	p.Ala1187Asp	missense variant	-	NC_000002.12:g.27454133G>T	NCI-TCGA
COSM1407462	p.Ala1187Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27454133G>A	NCI-TCGA Cosmic
rs983926349	p.Gln1188Ter	stop gained	-	NC_000002.12:g.27454131G>A	TOPMed,gnomAD
rs371604610	p.Arg1189Cys	missense variant	-	NC_000002.12:g.27454128G>A	ESP,ExAC,gnomAD
rs367806691	p.Arg1189His	missense variant	-	NC_000002.12:g.27454127C>T	ESP,ExAC,TOPMed,gnomAD
rs1456528874	p.Val1190Met	missense variant	-	NC_000002.12:g.27454125C>T	TOPMed,gnomAD
rs1356192791	p.Glu1192Gly	missense variant	-	NC_000002.12:g.27454118T>C	TOPMed
rs764965204	p.His1194Tyr	missense variant	-	NC_000002.12:g.27454113G>A	ExAC,TOPMed,gnomAD
rs764965204	p.His1194Asp	missense variant	-	NC_000002.12:g.27454113G>C	ExAC,TOPMed,gnomAD
rs762074176	p.Asp1195Asn	missense variant	-	NC_000002.12:g.27454110C>T	ExAC,TOPMed,gnomAD
rs754030652	p.Pro1196Arg	missense variant	-	NC_000002.12:g.27454106G>C	ExAC,gnomAD
rs760796294	p.Asp1197Val	missense variant	-	NC_000002.12:g.27454103T>A	ExAC,TOPMed,gnomAD
rs760796294	p.Asp1197Gly	missense variant	-	NC_000002.12:g.27454103T>C	ExAC,TOPMed,gnomAD
rs953195451	p.Ser1198Gly	missense variant	-	NC_000002.12:g.27454101T>C	TOPMed,gnomAD
rs772665705	p.Val1199Ile	missense variant	-	NC_000002.12:g.27454098C>T	ExAC,TOPMed,gnomAD
rs377521375	p.Ala1200Pro	missense variant	-	NC_000002.12:g.27454095C>G	ESP,ExAC,TOPMed,gnomAD
rs377521375	p.Ala1200Thr	missense variant	-	NC_000002.12:g.27454095C>T	ESP,ExAC,TOPMed,gnomAD
rs377521375	p.Ala1200Ser	missense variant	-	NC_000002.12:g.27454095C>A	ESP,ExAC,TOPMed,gnomAD
rs747872724	p.Glu1201Lys	missense variant	-	NC_000002.12:g.27454092C>T	ExAC,TOPMed,gnomAD
rs7580439	p.Val1204Leu	missense variant	-	NC_000002.12:g.27454083C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1313893050	p.Gln1206Glu	missense variant	-	NC_000002.12:g.27454077G>C	gnomAD
rs746530471	p.Ala1207Val	missense variant	-	NC_000002.12:g.27454073G>A	ExAC,gnomAD
rs779395435	p.Arg1208Trp	missense variant	-	NC_000002.12:g.27454071G>A	ExAC,gnomAD
rs758387302	p.Arg1208Gln	missense variant	-	NC_000002.12:g.27454070C>T	ExAC,TOPMed,gnomAD
rs758387302	p.Arg1208Pro	missense variant	-	NC_000002.12:g.27454070C>G	ExAC,TOPMed,gnomAD
rs1321523578	p.Gly1209Arg	missense variant	-	NC_000002.12:g.27454068C>T	gnomAD
rs750339927	p.Ala1210Thr	missense variant	-	NC_000002.12:g.27454065C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1210ProPheSerTerUnkUnkUnk	frameshift	-	NC_000002.12:g.27454065C>-	NCI-TCGA
rs750339927	p.Ala1210Pro	missense variant	-	NC_000002.12:g.27454065C>G	ExAC,gnomAD
rs1376355040	p.Leu1211Val	missense variant	-	NC_000002.12:g.27454062A>C	TOPMed
rs532669006	p.Leu1211Trp	missense variant	-	NC_000002.12:g.27454061A>C	1000Genomes,ExAC,gnomAD
rs764315033	p.Glu1212Lys	missense variant	-	NC_000002.12:g.27454059C>T	ExAC,gnomAD
rs764315033	p.Glu1212Ter	stop gained	-	NC_000002.12:g.27454059C>A	ExAC,gnomAD
rs760768488	p.Glu1213Lys	missense variant	-	NC_000002.12:g.27454056C>T	ExAC,TOPMed,gnomAD
rs1379888681	p.Lys1214Asn	missense variant	-	NC_000002.12:g.27454051C>G	TOPMed,gnomAD
rs777398021	p.Asp1215Asn	missense variant	-	NC_000002.12:g.27454050C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1217Ter	stop gained	-	NC_000002.12:g.27454044G>A	NCI-TCGA
rs865947014	p.Glu1220Ter	stop gained	-	NC_000002.12:g.27454035C>A	gnomAD
rs865947014	p.Glu1220Lys	missense variant	-	NC_000002.12:g.27454035C>T	gnomAD
rs1454157190	p.Gly1221Ala	missense variant	-	NC_000002.12:g.27454031C>G	gnomAD
rs1454157190	p.Gly1221Glu	missense variant	-	NC_000002.12:g.27454031C>T	gnomAD
rs141440865	p.Arg1225Gln	missense variant	-	NC_000002.12:g.27454019C>T	ESP,ExAC,TOPMed,gnomAD
rs148305851	p.Arg1225Trp	missense variant	-	NC_000002.12:g.27454020G>A	ESP,ExAC,TOPMed,gnomAD
rs1346170761	p.Gln1227His	missense variant	-	NC_000002.12:g.27454012C>G	TOPMed
NCI-TCGA novel	p.Arg1228Ile	missense variant	-	NC_000002.12:g.27454010C>A	NCI-TCGA
rs1200537384	p.Pro1229Leu	missense variant	-	NC_000002.12:g.27454007G>A	gnomAD
rs571632405	p.Pro1229Ser	missense variant	-	NC_000002.12:g.27454008G>A	1000Genomes,ExAC,gnomAD
rs1347028750	p.Gly1230Arg	missense variant	-	NC_000002.12:g.27454005C>G	gnomAD
rs746597294	p.Asn1234Asp	missense variant	-	NC_000002.12:g.27453993T>C	ExAC,TOPMed,gnomAD
rs746597294	p.Asn1234Tyr	missense variant	-	NC_000002.12:g.27453993T>A	ExAC,TOPMed,gnomAD
rs746597294	p.Asn1234His	missense variant	-	NC_000002.12:g.27453993T>G	ExAC,TOPMed,gnomAD
rs1342661027	p.Asn1234Lys	missense variant	-	NC_000002.12:g.27453991A>C	gnomAD
NCI-TCGA novel	p.Tyr1236Asp	missense variant	-	NC_000002.12:g.27453987A>C	NCI-TCGA
rs1395282355	p.Glu1238Lys	missense variant	-	NC_000002.12:g.27453739C>T	gnomAD
rs553301895	p.Glu1238Ala	missense variant	-	NC_000002.12:g.27453738T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1239Val	missense variant	-	NC_000002.12:g.27453735G>A	NCI-TCGA
rs145507269	p.Ser1243Asn	missense variant	-	NC_000002.12:g.27453723C>T	ESP,ExAC,TOPMed,gnomAD
rs145507269	p.Ser1243Ile	missense variant	-	NC_000002.12:g.27453723C>A	ESP,ExAC,TOPMed,gnomAD
rs1186609381	p.Asp1244His	missense variant	-	NC_000002.12:g.27453721C>G	gnomAD
rs748457958	p.Ala1245Thr	missense variant	-	NC_000002.12:g.27453718C>T	ExAC,gnomAD
COSM3580627	p.Leu1246Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27453715G>T	NCI-TCGA Cosmic
rs375755957	p.Arg1247Cys	missense variant	-	NC_000002.12:g.27453712G>A	ESP,ExAC,TOPMed,gnomAD
rs755179952	p.Arg1247His	missense variant	-	NC_000002.12:g.27453711C>T	ExAC,TOPMed,gnomAD
rs139455520	p.Cys1249Ser	missense variant	-	NC_000002.12:g.27453705C>G	ESP,TOPMed,gnomAD
rs139455520	p.Cys1249Tyr	missense variant	-	NC_000002.12:g.27453705C>T	ESP,TOPMed,gnomAD
COSM3580626	p.Asp1251Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27453698G>T	NCI-TCGA Cosmic
rs751716803	p.Asp1251Tyr	missense variant	-	NC_000002.12:g.27453700C>A	ExAC,gnomAD
rs766521095	p.Tyr1252Cys	missense variant	-	NC_000002.12:g.27453696T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ser1255Asn	missense variant	-	NC_000002.12:g.27453687C>T	NCI-TCGA
rs750866849	p.Ser1255Ile	missense variant	-	NC_000002.12:g.27453687C>A	ExAC,gnomAD
rs765703265	p.Gln1256Arg	missense variant	-	NC_000002.12:g.27453684T>C	ExAC,gnomAD
rs1445202187	p.Leu1257Pro	missense variant	-	NC_000002.12:g.27453681A>G	TOPMed
rs373382907	p.Leu1257Met	missense variant	-	NC_000002.12:g.27453682G>T	ESP,ExAC,TOPMed,gnomAD
rs529914770	p.Glu1258Lys	missense variant	-	NC_000002.12:g.27453679C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1163562316	p.Ala1259Val	missense variant	-	NC_000002.12:g.27453675G>A	gnomAD
rs192468798	p.Ala1259Thr	missense variant	-	NC_000002.12:g.27453676C>T	1000Genomes,ExAC,gnomAD
rs1012597627	p.Leu1260Val	missense variant	-	NC_000002.12:g.27453673G>C	TOPMed,gnomAD
rs999731005	p.Glu1265Ter	stop gained	-	NC_000002.12:g.27453658C>A	TOPMed,gnomAD
rs770396560	p.Arg1266Gln	missense variant	-	NC_000002.12:g.27453654C>T	ExAC,gnomAD
rs902724768	p.Arg1266Trp	missense variant	-	NC_000002.12:g.27453655G>A	TOPMed,gnomAD
rs749289347	p.Ala1268Pro	missense variant	-	NC_000002.12:g.27453649C>G	ExAC,gnomAD
rs1415804076	p.Thr1269Ser	missense variant	-	NC_000002.12:g.27453645G>C	TOPMed
rs773009469	p.Lys1270Gln	missense variant	-	NC_000002.12:g.27453643T>G	ExAC,gnomAD
rs769711760	p.Lys1271Asn	missense variant	-	NC_000002.12:g.27453638C>A	ExAC,TOPMed,gnomAD
rs1048883218	p.Gly1272Trp	missense variant	-	NC_000002.12:g.27453637C>A	TOPMed
rs747898460	p.Ala1273Val	missense variant	-	NC_000002.12:g.27453633G>A	ExAC,TOPMed,gnomAD
rs1176587359	p.Arg1274Met	missense variant	-	NC_000002.12:g.27453630C>A	gnomAD
rs543062539	p.Gly1275Val	missense variant	-	NC_000002.12:g.27453511C>A	1000Genomes,ExAC,gnomAD
rs1178903407	p.Gly1275Cys	missense variant	-	NC_000002.12:g.27453512C>A	gnomAD
rs1213751170	p.Val1276Met	missense variant	-	NC_000002.12:g.27453509C>T	gnomAD
rs1446914237	p.Val1276Ala	missense variant	-	NC_000002.12:g.27453508A>G	gnomAD
rs772708860	p.Glu1277Gly	missense variant	-	NC_000002.12:g.27453505T>C	ExAC,gnomAD
rs145282044	p.Gly1278Glu	missense variant	-	NC_000002.12:g.27453502C>T	ESP,ExAC,gnomAD
rs1303152998	p.Phe1279Ser	missense variant	-	NC_000002.12:g.27453499A>G	gnomAD
rs775789572	p.Val1280Met	missense variant	-	NC_000002.12:g.27453497C>T	TOPMed,gnomAD
rs1366937730	p.Arg1284Gly	missense variant	-	NC_000002.12:g.27453485G>C	gnomAD
rs147394910	p.Arg1284Gln	missense variant	-	NC_000002.12:g.27453484C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1366937730	p.Arg1284Ter	stop gained	-	NC_000002.12:g.27453485G>A	gnomAD
rs776343273	p.His1285Gln	missense variant	-	NC_000002.12:g.27453480G>T	ExAC,TOPMed,gnomAD
rs776343273	p.His1285Gln	missense variant	-	NC_000002.12:g.27453480G>C	ExAC,TOPMed,gnomAD
rs1359643334	p.Trp1286Arg	missense variant	-	NC_000002.12:g.27453479A>G	gnomAD
rs911402392	p.Glu1287Gly	missense variant	-	NC_000002.12:g.27453475T>C	TOPMed
rs1336146422	p.Glu1287Lys	missense variant	-	NC_000002.12:g.27453476C>T	gnomAD
rs768543764	p.Ala1289Asp	missense variant	-	NC_000002.12:g.27453469G>T	ExAC
rs1432810361	p.Gly1290Ala	missense variant	-	NC_000002.12:g.27453466C>G	gnomAD
RCV000422826	p.Glu1291Gly	missense variant	-	NC_000002.12:g.27453463T>C	ClinVar
rs1057523019	p.Glu1291Gly	missense variant	-	NC_000002.12:g.27453463T>C	-
rs747304738	p.Glu1291Asp	missense variant	-	NC_000002.12:g.27453462C>A	ExAC
rs772364188	p.Ser1293Ile	missense variant	-	NC_000002.12:g.27453457C>A	ExAC,gnomAD
rs780413940	p.Ser1293Gly	missense variant	-	NC_000002.12:g.27453458T>C	ExAC,gnomAD
RCV000207410	p.Arg1294Cys	missense variant	-	NC_000002.12:g.27453455G>A	ClinVar
rs369191459	p.Arg1294Cys	missense variant	-	NC_000002.12:g.27453455G>A	ESP,ExAC,TOPMed,gnomAD
rs947637366	p.Arg1294His	missense variant	-	NC_000002.12:g.27453454C>T	TOPMed
rs757728167	p.Val1296Met	missense variant	-	NC_000002.12:g.27453449C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys1298Phe	missense variant	-	NC_000002.12:g.27453442C>A	NCI-TCGA
rs1475147599	p.Cys1298Arg	missense variant	-	NC_000002.12:g.27453443A>G	gnomAD
rs778174589	p.Tyr1299Ter	stop gained	-	NC_000002.12:g.27453438G>T	ExAC,gnomAD
rs756456526	p.Lys1301Arg	missense variant	-	NC_000002.12:g.27453433T>C	ExAC,TOPMed,gnomAD
rs1279991600	p.Val1302Gly	missense variant	-	NC_000002.12:g.27453430A>C	gnomAD
RCV000083279	p.Arg1303Ter	nonsense	Short-rib thoracic dysplasia 10 with polydactyly	NC_000002.12:g.27453428G>A	ClinVar
rs587777087	p.Arg1303Ter	stop gained	-	NC_000002.12:g.27453428G>A	gnomAD
rs768194578	p.Arg1303Gln	missense variant	-	NC_000002.12:g.27453427C>T	gnomAD
COSM3798918	p.Gly1306Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27453418C>G	NCI-TCGA Cosmic
rs766021582	p.Asn1307Ile	missense variant	-	NC_000002.12:g.27453415T>A	ExAC,gnomAD
rs377211687	p.Asn1307Lys	missense variant	-	NC_000002.12:g.27453414G>C	ESP,ExAC,TOPMed,gnomAD
rs764778967	p.Ser1308Arg	missense variant	-	NC_000002.12:g.27453411G>T	ExAC,TOPMed,gnomAD
rs373909271	p.Ser1308Gly	missense variant	-	NC_000002.12:g.27453413T>C	ESP,ExAC,TOPMed,gnomAD
rs761699238	p.Gly1309Ser	missense variant	-	NC_000002.12:g.27453410C>T	ExAC,TOPMed,gnomAD
rs776708575	p.Gly1309Ala	missense variant	-	NC_000002.12:g.27453409C>G	ExAC,gnomAD
rs776708575	p.Gly1309Val	missense variant	-	NC_000002.12:g.27453409C>A	ExAC,gnomAD
rs760562906	p.Ala1311Val	missense variant	-	NC_000002.12:g.27453403G>A	ExAC,TOPMed,gnomAD
rs1428162033	p.Glu1312Gly	missense variant	-	NC_000002.12:g.27453400T>C	gnomAD
rs772455105	p.Lys1313Arg	missense variant	-	NC_000002.12:g.27453397T>C	ExAC,gnomAD
rs746055848	p.Cys1314Tyr	missense variant	-	NC_000002.12:g.27453394C>T	ExAC,gnomAD
rs778898472	p.Trp1315Ter	stop gained	-	NC_000002.12:g.27453391C>T	ExAC,TOPMed,gnomAD
rs535897445	p.Met1316Val	missense variant	-	NC_000002.12:g.27453389T>C	1000Genomes,ExAC,gnomAD
rs769830338	p.Glu1320Ter	stop gained	-	NC_000002.12:g.27450090C>A	ExAC,TOPMed,gnomAD
rs769830338	p.Glu1320Lys	missense variant	-	NC_000002.12:g.27450090C>T	ExAC,TOPMed,gnomAD
COSM442748	p.Ile1323Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27450079G>C	NCI-TCGA Cosmic
rs1252202267	p.Lys1324Arg	missense variant	-	NC_000002.12:g.27450077T>C	TOPMed
NCI-TCGA novel	p.Pro1327His	missense variant	-	NC_000002.12:g.27450068G>T	NCI-TCGA
rs1319050867	p.Pro1327Leu	missense variant	-	NC_000002.12:g.27450068G>A	gnomAD
rs768705269	p.Gln1329His	missense variant	-	NC_000002.12:g.27450061T>A	ExAC,TOPMed,gnomAD
rs768990688	p.Arg1330Cys	missense variant	-	NC_000002.12:g.27450060G>A	ExAC,gnomAD
rs202236985	p.Arg1330His	missense variant	-	NC_000002.12:g.27450059C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1331Ser	missense variant	-	NC_000002.12:g.27450056T>C	NCI-TCGA
rs370915847	p.Glu1333Val	missense variant	-	NC_000002.12:g.27450050T>A	ESP,ExAC,TOPMed,gnomAD
rs755670491	p.Val1335Ile	missense variant	-	NC_000002.12:g.27450045C>T	ExAC,gnomAD
rs1426273512	p.Val1338Leu	missense variant	-	NC_000002.12:g.27450036C>G	gnomAD
rs752194741	p.Val1338Ala	missense variant	-	NC_000002.12:g.27450035A>G	ExAC,gnomAD
rs751388481	p.Ile1343Thr	missense variant	-	NC_000002.12:g.27450020A>G	ExAC,TOPMed,gnomAD
rs766061673	p.Ile1345Thr	missense variant	-	NC_000002.12:g.27450014A>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly1346Ala	missense variant	-	NC_000002.12:g.27450011C>G	NCI-TCGA
rs765362471	p.Ser1349Gly	missense variant	-	NC_000002.12:g.27450003T>C	ExAC,TOPMed,gnomAD
rs765362471	p.Ser1349Cys	missense variant	-	NC_000002.12:g.27450003T>A	ExAC,TOPMed,gnomAD
rs1294982666	p.Ala1350Val	missense variant	-	NC_000002.12:g.27449999G>A	gnomAD
rs1418646322	p.Ala1352Thr	missense variant	-	NC_000002.12:g.27449797C>T	TOPMed
rs759982263	p.Glu1353Asp	missense variant	-	NC_000002.12:g.27449792C>G	ExAC,gnomAD
COSM721413	p.Asp1359Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27449775T>C	NCI-TCGA Cosmic
COSM1306677	p.Asp1359Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27449776C>A	NCI-TCGA Cosmic
rs774816349	p.Leu1360Phe	missense variant	-	NC_000002.12:g.27449773G>A	ExAC
rs1164069887	p.Glu1363Gly	missense variant	-	NC_000002.12:g.27449763T>C	gnomAD
rs776240963	p.Asp1366Asn	missense variant	-	NC_000002.12:g.27449755C>T	ExAC,TOPMed,gnomAD
rs1179409010	p.Ala1367Val	missense variant	-	NC_000002.12:g.27449751G>A	gnomAD
rs747023555	p.Ile1369Met	missense variant	-	NC_000002.12:g.27449744G>C	ExAC,TOPMed,gnomAD
rs779981992	p.Glu1370Lys	missense variant	-	NC_000002.12:g.27449743C>T	ExAC,gnomAD
COSM3839292	p.Glu1373Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27449734C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Trp1374Cys	missense variant	-	NC_000002.12:g.27449729C>G	NCI-TCGA
rs201558716	p.Trp1374Ter	stop gained	-	NC_000002.12:g.27449729C>T	1000Genomes
rs926937934	p.Asn1375Asp	missense variant	-	NC_000002.12:g.27449728T>C	TOPMed
rs778634326	p.Ala1377Thr	missense variant	-	NC_000002.12:g.27449722C>T	ExAC,gnomAD
rs376824384	p.Ala1377Val	missense variant	-	NC_000002.12:g.27449721G>A	ESP,ExAC,TOPMed,gnomAD
rs772212247	p.Arg1379His	missense variant	-	NC_000002.12:g.27449715C>T	ExAC,TOPMed,gnomAD
rs377326896	p.Arg1379Cys	missense variant	-	NC_000002.12:g.27449716G>A	ESP,ExAC,TOPMed,gnomAD
rs772212247	p.Arg1379Leu	missense variant	-	NC_000002.12:g.27449715C>A	ExAC,TOPMed,gnomAD
rs752753656	p.Lys1382Asn	missense variant	-	NC_000002.12:g.27449705C>G	ExAC,TOPMed,gnomAD
rs1324635513	p.Lys1382Ter	stop gained	-	NC_000002.12:g.27449707T>A	gnomAD
rs147668131	p.Glu1383Lys	missense variant	-	NC_000002.12:g.27449704C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000653126	p.Glu1383Lys	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27449704C>T	ClinVar
rs376777306	p.Tyr1388Cys	missense variant	-	NC_000002.12:g.27449560T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1390Tyr	missense variant	-	NC_000002.12:g.27449555C>A	NCI-TCGA
rs1034663831	p.Asp1390Val	missense variant	-	NC_000002.12:g.27449554T>A	TOPMed,gnomAD
rs756318425	p.Asp1390His	missense variant	-	NC_000002.12:g.27449555C>G	ExAC,gnomAD
rs1221807291	p.Tyr1391Cys	missense variant	-	NC_000002.12:g.27449551T>C	TOPMed
rs1270300628	p.Val1392Gly	missense variant	-	NC_000002.12:g.27449548A>C	TOPMed
rs767682929	p.Asp1393Glu	missense variant	-	NC_000002.12:g.27449544G>C	ExAC,gnomAD
rs558148933	p.Asp1393His	missense variant	-	NC_000002.12:g.27449546C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs558148933	p.Asp1393Asn	missense variant	-	NC_000002.12:g.27449546C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs963343817	p.Gln1394Glu	missense variant	-	NC_000002.12:g.27449543G>C	TOPMed,gnomAD
rs148360112	p.His1395Gln	missense variant	-	NC_000002.12:g.27449538A>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr1396Cys	missense variant	-	NC_000002.12:g.27449536T>C	NCI-TCGA
COSM1019701	p.Glu1398Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.27449531C>A	NCI-TCGA Cosmic
rs371612970	p.Leu1400Pro	missense variant	-	NC_000002.12:g.27449524A>G	ESP,ExAC,TOPMed
COSM3426355	p.Lys1401Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27449520C>A	NCI-TCGA Cosmic
rs149065251	p.Gln1403His	missense variant	-	NC_000002.12:g.27449514C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763238244	p.Gly1404Ser	missense variant	-	NC_000002.12:g.27449513C>T	ExAC,TOPMed,gnomAD
rs1037540059	p.Val1406Glu	missense variant	-	NC_000002.12:g.27449506A>T	gnomAD
NCI-TCGA novel	p.Val1410Met	missense variant	-	NC_000002.12:g.27449377C>T	NCI-TCGA
rs777573615	p.Val1410Leu	missense variant	-	NC_000002.12:g.27449377C>A	ExAC,TOPMed,gnomAD
rs769958831	p.Gly1411Arg	missense variant	-	NC_000002.12:g.27449374C>G	ExAC,TOPMed,gnomAD
rs748345321	p.Asp1413Glu	missense variant	-	NC_000002.12:g.27449366A>C	ExAC,TOPMed,gnomAD
rs1398890900	p.Ala1417Val	missense variant	-	NC_000002.12:g.27449355G>A	TOPMed
rs755092127	p.Asp1419Glu	missense variant	-	NC_000002.12:g.27449348G>T	ExAC,TOPMed,gnomAD
rs900692701	p.Val1422Leu	missense variant	-	NC_000002.12:g.27449341C>G	TOPMed,gnomAD
rs751629074	p.Glu1423Gly	missense variant	-	NC_000002.12:g.27449337T>C	ExAC,TOPMed,gnomAD
rs139560074	p.Gly1425Asp	missense variant	-	NC_000002.12:g.27449331C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750779087	p.Gln1426Arg	missense variant	-	NC_000002.12:g.27449328T>C	ExAC,gnomAD
rs199502476	p.Asp1428Glu	missense variant	-	NC_000002.12:g.27449321G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760361183	p.Lys1429Arg	missense variant	-	NC_000002.12:g.27449319T>C	ExAC,gnomAD
RCV000487111	p.Ile1431Ter	frameshift	-	NC_000002.12:g.27449315dup	ClinVar
rs1465201525	p.Ala1434Pro	missense variant	-	NC_000002.12:g.27449305C>G	gnomAD
COSM1019700	p.Thr1435Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27449301G>A	NCI-TCGA Cosmic
rs377646246	p.Lys1436Thr	missense variant	-	NC_000002.12:g.27449298T>G	ESP,ExAC,TOPMed,gnomAD
rs773808458	p.Gln1437Arg	missense variant	-	NC_000002.12:g.27449295T>C	ExAC,TOPMed,gnomAD
rs751078156	p.Tyr1439Ter	stop gained	-	NC_000002.12:g.27449026G>T	ExAC,gnomAD
rs765881268	p.Lys1440Arg	missense variant	-	NC_000002.12:g.27449024T>C	ExAC,gnomAD
rs1177576131	p.Lys1440Asn	missense variant	-	NC_000002.12:g.27449023C>A	gnomAD
rs1468644862	p.Lys1444Arg	missense variant	-	NC_000002.12:g.27449012T>C	gnomAD
rs762866105	p.Tyr1445Phe	missense variant	-	NC_000002.12:g.27449009T>A	ExAC,gnomAD
NCI-TCGA novel	p.Val1446Met	missense variant	-	NC_000002.12:g.27449007C>T	NCI-TCGA
NCI-TCGA novel	p.Ala1447Thr	missense variant	-	NC_000002.12:g.27449004C>T	NCI-TCGA
rs1488112490	p.Leu1448Phe	missense variant	-	NC_000002.12:g.27448999C>G	gnomAD
rs765204846	p.Ala1450Val	missense variant	-	NC_000002.12:g.27448994G>A	ExAC,gnomAD
rs761701917	p.Thr1451Ala	missense variant	-	NC_000002.12:g.27448992T>C	ExAC,TOPMed,gnomAD
rs776529440	p.Thr1451Asn	missense variant	-	NC_000002.12:g.27448991G>T	ExAC,gnomAD
rs370497725	p.His1452Gln	missense variant	-	NC_000002.12:g.27448987G>C	ESP
rs184506506	p.Arg1455Trp	missense variant	-	NC_000002.12:g.27448980G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs747215055	p.Arg1455Gln	missense variant	-	NC_000002.12:g.27448979C>T	ExAC,TOPMed,gnomAD
rs775476765	p.Glu1456Lys	missense variant	-	NC_000002.12:g.27448977C>T	ExAC,gnomAD
rs772188107	p.Glu1456Asp	missense variant	-	NC_000002.12:g.27448975C>G	ExAC,gnomAD
rs779491564	p.Gly1457Ser	missense variant	-	NC_000002.12:g.27448974C>T	ExAC,gnomAD
rs779491564	p.Gly1457Arg	missense variant	-	NC_000002.12:g.27448974C>G	ExAC,gnomAD
rs142312837	p.Gly1457Asp	missense variant	-	NC_000002.12:g.27448973C>T	ESP,ExAC,TOPMed,gnomAD
rs1390620197	p.Ser1458Gly	missense variant	-	NC_000002.12:g.27448971T>C	TOPMed,gnomAD
rs1289915013	p.Ser1459Cys	missense variant	-	NC_000002.12:g.27448967G>C	gnomAD
rs1396579423	p.Gln1468Ter	stop gained	-	NC_000002.12:g.27448941G>A	gnomAD
rs754662548	p.His1469Arg	missense variant	-	NC_000002.12:g.27448937T>C	ExAC,gnomAD
rs146047876	p.Gly1470Arg	missense variant	-	NC_000002.12:g.27448935C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1219587063	p.Ala1471Val	missense variant	-	NC_000002.12:g.27448931G>A	TOPMed
rs749834823	p.Ala1473Thr	missense variant	-	NC_000002.12:g.27448926C>T	ExAC,gnomAD
rs138264780	p.Pro1475Arg	missense variant	-	NC_000002.12:g.27448919G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn1477Lys	missense variant	-	NC_000002.12:g.27447920G>T	NCI-TCGA
rs757946737	p.Asn1479Ser	missense variant	-	NC_000002.12:g.27447915T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1483SerPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.27447902_27447903insACTGCAAGCTCCGCTTCCCGGGTTCA	NCI-TCGA
COSM2157253	p.Arg1483Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27447902C>A	NCI-TCGA Cosmic
rs201356906	p.Arg1483Lys	missense variant	-	NC_000002.12:g.27447903C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1484Ser	missense variant	-	NC_000002.12:g.27447900A>C	NCI-TCGA
rs778545802	p.Phe1485Leu	missense variant	-	NC_000002.12:g.27447896G>T	ExAC,gnomAD
rs371807689	p.Asp1487His	missense variant	-	NC_000002.12:g.27447892C>G	ESP,ExAC,TOPMed,gnomAD
rs1387732542	p.Met1488Lys	missense variant	-	NC_000002.12:g.27447888A>T	TOPMed
rs1396855176	p.Met1488Ile	missense variant	-	NC_000002.12:g.27447887C>T	gnomAD
COSM4548401	p.Val1489Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27447886C>T	NCI-TCGA Cosmic
rs943300296	p.Ser1490Arg	missense variant	-	NC_000002.12:g.27447881G>T	TOPMed,gnomAD
rs943300296	p.Ser1490Arg	missense variant	-	NC_000002.12:g.27447881G>C	TOPMed,gnomAD
rs753822760	p.Pro1492Ala	missense variant	-	NC_000002.12:g.27447877G>C	ExAC,gnomAD
rs760535770	p.Asn1495Ser	missense variant	-	NC_000002.12:g.27447867T>C	ExAC,gnomAD
rs149435148	p.Cys1496Tyr	missense variant	-	NC_000002.12:g.27447864C>T	ESP,ExAC,TOPMed,gnomAD
rs149435148	p.Cys1496Phe	missense variant	-	NC_000002.12:g.27447864C>A	ESP,ExAC,TOPMed,gnomAD
rs759653536	p.Ala1497Thr	missense variant	-	NC_000002.12:g.27447862C>T	ExAC,TOPMed,gnomAD
rs557292146	p.Glu1498Lys	missense variant	-	NC_000002.12:g.27447859C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs763505533	p.Tyr1500Cys	missense variant	-	NC_000002.12:g.27447852T>C	ExAC,gnomAD
rs1456462116	p.Tyr1500Ter	stop gained	-	NC_000002.12:g.27447851A>T	TOPMed,gnomAD
rs1043702763	p.His1501Tyr	missense variant	-	NC_000002.12:g.27447850G>A	TOPMed
rs79517696	p.Ser1502Cys	missense variant	-	NC_000002.12:g.27447847T>A	ExAC,TOPMed,gnomAD
rs1234365830	p.Ala1504Val	missense variant	-	NC_000002.12:g.27447840G>A	gnomAD
rs770131441	p.Leu1506Phe	missense variant	-	NC_000002.12:g.27447835G>A	ExAC
rs781360062	p.Arg1507Pro	missense variant	-	NC_000002.12:g.27447831C>G	ExAC,TOPMed,gnomAD
rs781360062	p.Arg1507Gln	missense variant	-	NC_000002.12:g.27447831C>T	ExAC,TOPMed,gnomAD
rs150246251	p.Arg1507Ter	stop gained	-	NC_000002.12:g.27447832G>A	ESP,ExAC,TOPMed,gnomAD
rs1335960322	p.Val1509Ile	missense variant	-	NC_000002.12:g.27447826C>T	gnomAD
rs771807883	p.Leu1510Phe	missense variant	-	NC_000002.12:g.27447823G>A	ExAC,gnomAD
rs758565766	p.Cys1514Trp	missense variant	-	NC_000002.12:g.27447632A>C	ExAC,gnomAD
rs1474615185	p.Leu1517Pro	missense variant	-	NC_000002.12:g.27447624A>G	TOPMed,gnomAD
RCV000521349	p.Glu1522Lys	missense variant	-	NC_000002.12:g.27447610C>T	ClinVar
rs746340772	p.Glu1522Lys	missense variant	-	NC_000002.12:g.27447610C>T	ExAC,TOPMed,gnomAD
rs762450548	p.Pro1526Ala	missense variant	-	NC_000002.12:g.27447598G>C	ExAC,gnomAD
rs993668309	p.Ala1527Thr	missense variant	-	NC_000002.12:g.27447595C>T	TOPMed
rs776991066	p.His1528Arg	missense variant	-	NC_000002.12:g.27447591T>C	ExAC,gnomAD
rs764604255	p.Glu1530Lys	missense variant	-	NC_000002.12:g.27447586C>T	ExAC,TOPMed,gnomAD
rs540171862	p.Phe1531Leu	missense variant	-	NC_000002.12:g.27447581G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs540171862	p.Phe1531Leu	missense variant	-	NC_000002.12:g.27447581G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1174455662	p.Lys1532Asn	missense variant	-	NC_000002.12:g.27447578C>G	gnomAD
rs202181028	p.Thr1533Met	missense variant	-	NC_000002.12:g.27447576G>A	1000Genomes,ExAC,TOPMed
rs587777080	p.Leu1536Pro	missense variant	-	NC_000002.12:g.27447567A>G	-
rs587777080	p.Leu1536Pro	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27447567A>G	UniProt,dbSNP
VAR_070959	p.Leu1536Pro	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27447567A>G	UniProt
RCV000083271	p.Leu1536Pro	missense variant	Short-rib thoracic dysplasia 10 without polydactyly	NC_000002.12:g.27447567A>G	ClinVar
rs770733075	p.Ala1538Thr	missense variant	-	NC_000002.12:g.27447562C>T	ExAC,TOPMed,gnomAD
rs748929714	p.His1539Tyr	missense variant	-	NC_000002.12:g.27447559G>A	ExAC,gnomAD
rs138003766	p.Tyr1541Cys	missense variant	-	NC_000002.12:g.27447552T>C	ESP,ExAC,TOPMed,gnomAD
RCV000435924	p.Thr1543Met	missense variant	-	NC_000002.12:g.27447546G>A	ClinVar
rs769170592	p.Thr1543Ala	missense variant	-	NC_000002.12:g.27447547T>C	ExAC,TOPMed,gnomAD
rs571220836	p.Thr1543Met	missense variant	-	NC_000002.12:g.27447546G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000201713	p.Arg1544Cys	missense variant	Joubert syndrome (JBTS)	NC_000002.12:g.27447544G>A	ClinVar
RCV000083270	p.Arg1544Cys	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27447544G>A	ClinVar
rs587777079	p.Arg1544Cys	missense variant	-	NC_000002.12:g.27447544G>A	ExAC,TOPMed,gnomAD
rs587777079	p.Arg1544Cys	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27447544G>A	UniProt,dbSNP
VAR_070960	p.Arg1544Cys	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27447544G>A	UniProt
rs751097060	p.Arg1544His	missense variant	-	NC_000002.12:g.27447543C>T	TOPMed,gnomAD
rs1331200488	p.Ser1545Cys	missense variant	-	NC_000002.12:g.27447540G>C	gnomAD
COSM721415	p.Ser1545Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27447540G>A	NCI-TCGA Cosmic
rs1276172175	p.Ser1545Pro	missense variant	-	NC_000002.12:g.27447541A>G	gnomAD
rs1290255701	p.Ala1546Val	missense variant	-	NC_000002.12:g.27447537G>A	gnomAD
rs1399361067	p.Ala1547Ser	missense variant	-	NC_000002.12:g.27447535C>A	gnomAD
rs746827700	p.Gln1548His	missense variant	-	NC_000002.12:g.27447530C>G	ExAC,TOPMed,gnomAD
rs1314510229	p.Ser1549Ile	missense variant	-	NC_000002.12:g.27447528C>A	gnomAD
rs779801761	p.Val1550Phe	missense variant	-	NC_000002.12:g.27447526C>A	ExAC,TOPMed,gnomAD
rs1300911313	p.Lys1551Thr	missense variant	-	NC_000002.12:g.27447522T>G	TOPMed
rs530107456	p.Gln1552His	missense variant	-	NC_000002.12:g.27447518C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000520966	p.Val1556Met	missense variant	-	NC_000002.12:g.27446349C>T	ClinVar
rs141098495	p.Val1556Met	missense variant	-	NC_000002.12:g.27446349C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1413564897	p.Ala1557Thr	missense variant	-	NC_000002.12:g.27446346C>T	gnomAD
rs757464563	p.Ala1558Val	missense variant	-	NC_000002.12:g.27446342G>A	ExAC,TOPMed,gnomAD
rs777980611	p.Arg1559Ser	missense variant	-	NC_000002.12:g.27446338C>G	ExAC,TOPMed,gnomAD
COSM4826416	p.Arg1559Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27446340T>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1561Cys	missense variant	-	NC_000002.12:g.27446333G>C	NCI-TCGA
NCI-TCGA novel	p.Ser1561CysPheSerTerUnkUnk	frameshift	-	NC_000002.12:g.27446332_27446333AG>-	NCI-TCGA
rs756728624	p.Ser1561Pro	missense variant	-	NC_000002.12:g.27446334A>G	ExAC,gnomAD
COSM6158116	p.Ser1563Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000002.12:g.27446327G>C	NCI-TCGA Cosmic
rs1320843711	p.Leu1565Trp	missense variant	-	NC_000002.12:g.27446321A>C	TOPMed,gnomAD
rs1307442302	p.Arg1566Cys	missense variant	-	NC_000002.12:g.27446319G>A	gnomAD
rs915032282	p.Arg1566His	missense variant	-	NC_000002.12:g.27446318C>T	TOPMed,gnomAD
rs1307442302	p.Arg1566Gly	missense variant	-	NC_000002.12:g.27446319G>C	gnomAD
rs786205855	p.His1567Gln	missense variant	-	NC_000002.12:g.27446314G>T	-
RCV000171548	p.His1567Gln	missense variant	Retinitis pigmentosa 71 (RP71)	NC_000002.12:g.27446314G>T	ClinVar
COSM1019697	p.His1567Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27446314G>C	NCI-TCGA Cosmic
rs759979976	p.Thr1568Ile	missense variant	-	NC_000002.12:g.27446312G>A	ExAC,gnomAD
rs1474681289	p.Gln1569His	missense variant	-	NC_000002.12:g.27446308C>A	TOPMed
rs1334160300	p.Gln1569Arg	missense variant	-	NC_000002.12:g.27446309T>C	gnomAD
NCI-TCGA novel	p.Pro1572CysPheSerTerUnk	frameshift	-	NC_000002.12:g.27446301_27446302GT>-	NCI-TCGA
rs1307170010	p.Pro1572Ser	missense variant	-	NC_000002.12:g.27446301G>A	gnomAD
COSM281864	p.Asp1574Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27446294T>C	NCI-TCGA Cosmic
rs761504464	p.Tyr1578Phe	missense variant	-	NC_000002.12:g.27446282T>A	ExAC,TOPMed,gnomAD
rs764818890	p.Tyr1578Asp	missense variant	-	NC_000002.12:g.27446283A>C	ExAC,gnomAD
rs761504464	p.Tyr1578Cys	missense variant	-	NC_000002.12:g.27446282T>C	ExAC,TOPMed,gnomAD
RCV000426896	p.Ile1582Thr	missense variant	-	NC_000002.12:g.27446270A>G	ClinVar
RCV000538712	p.Ile1582Thr	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27446270A>G	ClinVar
rs61742074	p.Ile1582Thr	missense variant	-	NC_000002.12:g.27446270A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1349603900	p.Ala1583Val	missense variant	-	NC_000002.12:g.27446267G>A	gnomAD
rs1393218263	p.Ala1584Thr	missense variant	-	NC_000002.12:g.27446265C>T	TOPMed
NCI-TCGA novel	p.Lys1585CysPheSerTerUnk	frameshift	-	NC_000002.12:g.27446262_27446263insGGCA	NCI-TCGA
rs774941853	p.Val1587Ile	missense variant	-	NC_000002.12:g.27445985C>T	ExAC,TOPMed,gnomAD
rs1483735124	p.Val1587Ala	missense variant	-	NC_000002.12:g.27445984A>G	gnomAD
rs772023412	p.Asp1590Tyr	missense variant	-	NC_000002.12:g.27445976C>A	ExAC,gnomAD
rs1279331887	p.Asn1591Ser	missense variant	-	NC_000002.12:g.27445972T>C	gnomAD
rs774056784	p.Asn1591Asp	missense variant	-	NC_000002.12:g.27445973T>C	ExAC,gnomAD
rs770759155	p.Asn1591Lys	missense variant	-	NC_000002.12:g.27445971G>C	ExAC,gnomAD
rs1042644207	p.Met1592Ile	missense variant	-	NC_000002.12:g.27445968C>T	gnomAD
rs773569919	p.Met1592Thr	missense variant	-	NC_000002.12:g.27445969A>G	ExAC,gnomAD
rs748974533	p.Met1592Val	missense variant	-	NC_000002.12:g.27445970T>C	ExAC,gnomAD
rs755477787	p.Asn1598Ser	missense variant	-	NC_000002.12:g.27445951T>C	ExAC,gnomAD
rs377200724	p.Asn1598His	missense variant	-	NC_000002.12:g.27445952T>G	ESP,ExAC,gnomAD
rs377200724	p.Asn1598Asp	missense variant	-	NC_000002.12:g.27445952T>C	ESP,ExAC,gnomAD
rs186020523	p.Arg1599Cys	missense variant	-	NC_000002.12:g.27445949G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM3426354	p.Phe1600Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27445945A>C	NCI-TCGA Cosmic
rs780339054	p.Thr1604Ser	missense variant	-	NC_000002.12:g.27445934T>A	ExAC,TOPMed,gnomAD
rs115716101	p.Thr1604Ile	missense variant	-	NC_000002.12:g.27445933G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000171550	p.Asp1605Glu	missense variant	Retinitis pigmentosa 71 (RP71)	NC_000002.12:g.27445929A>C	ClinVar
rs755717990	p.Asp1605Asn	missense variant	-	NC_000002.12:g.27445931C>T	ExAC,TOPMed,gnomAD
rs786205856	p.Asp1605Glu	missense variant	-	NC_000002.12:g.27445929A>C	-
rs1372327110	p.Glu1608Lys	missense variant	-	NC_000002.12:g.27445837C>T	TOPMed
rs1008851256	p.Leu1612Pro	missense variant	-	NC_000002.12:g.27445824A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Asp1613Gly	missense variant	-	NC_000002.12:g.27445821T>C	NCI-TCGA
rs754517347	p.Asp1616Gly	missense variant	-	NC_000002.12:g.27445812T>C	ExAC,gnomAD
rs1324085455	p.Asp1622His	missense variant	-	NC_000002.12:g.27445795C>G	gnomAD
rs750991615	p.Thr1623Ala	missense variant	-	NC_000002.12:g.27445792T>C	ExAC,TOPMed,gnomAD
rs762958757	p.Thr1623Ile	missense variant	-	NC_000002.12:g.27445791G>A	ExAC,gnomAD
rs762958757	p.Thr1623Lys	missense variant	-	NC_000002.12:g.27445791G>T	ExAC,gnomAD
COSM5788787	p.Asp1624Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27445789C>A	NCI-TCGA Cosmic
rs1162491276	p.Asp1624Gly	missense variant	-	NC_000002.12:g.27445788T>C	gnomAD
rs1438803947	p.Phe1627Ser	missense variant	-	NC_000002.12:g.27445779A>G	TOPMed
rs765119001	p.Pro1632Leu	missense variant	-	NC_000002.12:g.27445764G>A	ExAC,gnomAD
rs752690255	p.Ala1633GlyTerLysAlaAlaGlySerIleAsnLeuIleLeuLeuGlyPheSerThr	stop gained	-	NC_000002.12:g.27445761_27445762insTACTGAATCCTAGTAAAATTAAGTTTATTGATCCTGCTGCTTTCTACC	ExAC
rs201237891	p.Ala1633Pro	missense variant	-	NC_000002.12:g.27445762C>G	1000Genomes,ExAC,gnomAD
rs201840472	p.His1636Gln	missense variant	-	NC_000002.12:g.27445751A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs571686284	p.Val1637Ile	missense variant	-	NC_000002.12:g.27445750C>T	1000Genomes,ExAC,gnomAD
rs866404849	p.Pro1638Ser	missense variant	-	NC_000002.12:g.27445747G>A	gnomAD
rs550224307	p.Pro1638Leu	missense variant	-	NC_000002.12:g.27445746G>A	1000Genomes,ExAC,gnomAD
rs370504937	p.Glu1641Lys	missense variant	-	NC_000002.12:g.27445443C>T	ESP,TOPMed,gnomAD
RCV000083269	p.Arg1642Ter	frameshift	Short-rib thoracic dysplasia 10 without polydactyly	NC_000002.12:g.27445436_27445437TC[2]	ClinVar
rs753562959	p.Val1645Ala	missense variant	-	NC_000002.12:g.27445430A>G	ExAC,TOPMed,gnomAD
rs149117098	p.Val1645Ile	missense variant	-	NC_000002.12:g.27445431C>T	ESP,ExAC,TOPMed,gnomAD
rs549415233	p.Arg1646Gln	missense variant	-	NC_000002.12:g.27445427C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs760097703	p.Arg1646Ter	stop gained	-	NC_000002.12:g.27445428G>A	ExAC,TOPMed,gnomAD
rs1211824813	p.Leu1650Phe	missense variant	-	NC_000002.12:g.27445416G>A	gnomAD
rs771383720	p.Thr1651Arg	missense variant	-	NC_000002.12:g.27445412G>C	ExAC,gnomAD
rs771383720	p.Thr1651Ile	missense variant	-	NC_000002.12:g.27445412G>A	ExAC,gnomAD
rs377579450	p.Ser1653Phe	missense variant	-	NC_000002.12:g.27445406G>A	ESP,ExAC,TOPMed,gnomAD
rs377579450	p.Ser1653Tyr	missense variant	-	NC_000002.12:g.27445406G>T	ESP,ExAC,TOPMed,gnomAD
rs529850410	p.Met1654Val	missense variant	-	NC_000002.12:g.27445404T>C	1000Genomes,ExAC,gnomAD
rs1320001121	p.Asp1655Gly	missense variant	-	NC_000002.12:g.27445400T>C	gnomAD
rs766353582	p.Arg1657Gln	missense variant	-	NC_000002.12:g.27445394C>T	ExAC,TOPMed,gnomAD
rs768391423	p.Arg1657Trp	missense variant	-	NC_000002.12:g.27445395G>A	ExAC,TOPMed,gnomAD
rs1284963138	p.Glu1659Gly	missense variant	-	NC_000002.12:g.27445388T>C	gnomAD
rs1488810130	p.Glu1659Gln	missense variant	-	NC_000002.12:g.27445389C>G	TOPMed,gnomAD
COSM1326234	p.Gln1660Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27445386G>T	NCI-TCGA Cosmic
rs779670290	p.Val1661Ile	missense variant	-	NC_000002.12:g.27445383C>T	ExAC,TOPMed,gnomAD
rs779670290	p.Val1661Phe	missense variant	-	NC_000002.12:g.27445383C>A	ExAC,TOPMed,gnomAD
rs1357445568	p.Pro1663Leu	missense variant	-	NC_000002.12:g.27445376G>A	gnomAD
rs749884570	p.Arg1664Gln	missense variant	-	NC_000002.12:g.27445373C>T	ExAC,TOPMed,gnomAD
rs139348179	p.Arg1664Trp	missense variant	-	NC_000002.12:g.27445374G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000653127	p.Arg1664Trp	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27445374G>A	ClinVar
rs373098915	p.Glu1666Lys	missense variant	-	NC_000002.12:g.27445368C>T	ESP,ExAC,TOPMed,gnomAD
rs201017771	p.Arg1667His	missense variant	-	NC_000002.12:g.27445364C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs757212554	p.Arg1667Cys	missense variant	-	NC_000002.12:g.27445365G>A	ExAC,TOPMed,gnomAD
rs146575848	p.Ala1669Thr	missense variant	-	NC_000002.12:g.27445359C>T	ESP,ExAC,TOPMed,gnomAD
rs1241985045	p.Tyr1670His	missense variant	-	NC_000002.12:g.27445356A>G	gnomAD
rs1178759857	p.Tyr1670Cys	missense variant	-	NC_000002.12:g.27445355T>C	TOPMed,gnomAD
rs1256025789	p.Glu1671Lys	missense variant	-	NC_000002.12:g.27445353C>T	gnomAD
rs767672341	p.Ser1673Phe	missense variant	-	NC_000002.12:g.27445346G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1674Pro	missense variant	-	NC_000002.12:g.27445343A>G	NCI-TCGA
rs1322032604	p.Leu1674Val	missense variant	-	NC_000002.12:g.27445344G>C	gnomAD
NCI-TCGA novel	p.Val1675Leu	missense variant	-	NC_000002.12:g.27445341C>A	NCI-TCGA
rs774361785	p.Val1675Ala	missense variant	-	NC_000002.12:g.27445340A>G	ExAC,gnomAD
rs1377324089	p.Ala1676Thr	missense variant	-	NC_000002.12:g.27445338C>T	gnomAD
rs1280545536	p.Ala1677Val	missense variant	-	NC_000002.12:g.27445334G>A	TOPMed
rs766918099	p.Ala1677Ser	missense variant	-	NC_000002.12:g.27445335C>A	ExAC,TOPMed,gnomAD
rs972056548	p.Ser1678Asn	missense variant	-	NC_000002.12:g.27445331C>T	gnomAD
rs763335302	p.Val1681Ile	missense variant	-	NC_000002.12:g.27445323C>T	ExAC
NCI-TCGA novel	p.Arg1682Pro	missense variant	-	NC_000002.12:g.27445319C>G	NCI-TCGA
rs773691500	p.Arg1682Gln	missense variant	-	NC_000002.12:g.27445319C>T	ExAC,gnomAD
rs1329856696	p.Arg1682Ter	stop gained	-	NC_000002.12:g.27445320G>A	gnomAD
rs1202747297	p.Ala1683Thr	missense variant	-	NC_000002.12:g.27445317C>T	TOPMed
COSM1407461	p.Leu1684Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27445314G>T	NCI-TCGA Cosmic
rs770040628	p.Leu1684Arg	missense variant	-	NC_000002.12:g.27445313A>C	ExAC,TOPMed,gnomAD
rs775285304	p.Pro1685Ser	missense variant	-	NC_000002.12:g.27445311G>A	ExAC,TOPMed,gnomAD
rs917873749	p.Leu1687Phe	missense variant	-	NC_000002.12:g.27445305G>A	TOPMed
rs1393819519	p.Ile1688Thr	missense variant	-	NC_000002.12:g.27445301A>G	TOPMed
rs200049734	p.Gly1690Arg	missense variant	-	NC_000002.12:g.27445296C>G	ESP,ExAC,TOPMed,gnomAD
rs1433666682	p.Gly1690Ala	missense variant	-	NC_000002.12:g.27445105C>G	gnomAD
rs1189419094	p.Tyr1691His	missense variant	-	NC_000002.12:g.27445103A>G	gnomAD
NCI-TCGA novel	p.Pro1692Leu	missense variant	-	NC_000002.12:g.27445099G>A	NCI-TCGA
rs765709301	p.Leu1694Val	missense variant	-	NC_000002.12:g.27445094G>C	ExAC,gnomAD
rs762114339	p.Ile1698Thr	missense variant	-	NC_000002.12:g.27445081A>G	ExAC,gnomAD
rs560831644	p.Arg1702Trp	missense variant	-	NC_000002.12:g.27445070G>A	1000Genomes,ExAC,gnomAD
rs775719395	p.Arg1702Gln	missense variant	-	NC_000002.12:g.27445069C>T	gnomAD
rs1278666017	p.Gly1704Glu	missense variant	-	NC_000002.12:g.27445063C>T	TOPMed
rs375081229	p.Ala1706Thr	missense variant	-	NC_000002.12:g.27445058C>T	ESP,ExAC,TOPMed,gnomAD
rs1220735933	p.Ala1707Val	missense variant	-	NC_000002.12:g.27445054G>A	TOPMed
rs868748622	p.Asn1708Lys	missense variant	-	NC_000002.12:g.27445050G>T	TOPMed
rs542662514	p.Asp1710Asn	missense variant	-	NC_000002.12:g.27445046C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774073874	p.Asn1711Ser	missense variant	-	NC_000002.12:g.27445042T>C	ExAC,gnomAD
RCV000207390	p.Trp1712Ter	frameshift	-	NC_000002.12:g.27445041del	ClinVar
rs770335799	p.Asn1713Asp	missense variant	-	NC_000002.12:g.27445037T>C	ExAC,TOPMed,gnomAD
rs748778867	p.Asn1713Ser	missense variant	-	NC_000002.12:g.27445036T>C	ExAC,gnomAD
rs373184496	p.Phe1715Leu	missense variant	-	NC_000002.12:g.27445031A>G	ESP,ExAC,gnomAD
rs747938088	p.Leu1716Pro	missense variant	-	NC_000002.12:g.27445027A>G	ExAC,TOPMed,gnomAD
rs747938088	p.Leu1716Arg	missense variant	-	NC_000002.12:g.27445027A>C	ExAC,TOPMed,gnomAD
rs1264437308	p.Met1717Thr	missense variant	-	NC_000002.12:g.27445024A>G	TOPMed
rs146309780	p.Met1717Leu	missense variant	-	NC_000002.12:g.27445025T>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1720Asn	missense variant	-	NC_000002.12:g.27445014C>A	NCI-TCGA
rs755256585	p.Lys1720Thr	missense variant	-	NC_000002.12:g.27445015T>G	ExAC,gnomAD
rs764640478	p.Ser1724Ile	missense variant	-	NC_000002.12:g.27444511C>A	ExAC,gnomAD
rs148800421	p.Ser1724Arg	missense variant	-	NC_000002.12:g.27444512T>G	ESP,ExAC,TOPMed,gnomAD
rs1451217519	p.Val1726Leu	missense variant	-	NC_000002.12:g.27444506C>G	TOPMed,gnomAD
rs149614625	p.Cys1727Arg	missense variant	-	NC_000002.12:g.27444503A>G	ESP,ExAC,TOPMed,gnomAD
RCV000083268	p.Cys1727Arg	missense variant	Short-rib thoracic dysplasia 10 with or without polydactyly (SRTD10)	NC_000002.12:g.27444503A>G	ClinVar
rs753075654	p.Gln1728Lys	missense variant	-	NC_000002.12:g.27444500G>T	ExAC,TOPMed,gnomAD
rs765993455	p.Asp1729Gly	missense variant	-	NC_000002.12:g.27444496T>C	ExAC,gnomAD
rs985755052	p.Val1730Leu	missense variant	-	NC_000002.12:g.27444494C>A	TOPMed,gnomAD
rs985755052	p.Val1730Met	missense variant	-	NC_000002.12:g.27444494C>T	TOPMed,gnomAD
rs879266526	p.Leu1731Met	missense variant	-	NC_000002.12:g.27444491G>T	TOPMed
rs1387363654	p.Lys1732Asn	missense variant	-	NC_000002.12:g.27444486T>A	gnomAD
rs1161932262	p.Phe1733Leu	missense variant	-	NC_000002.12:g.27444483G>T	gnomAD
rs1238875084	p.Ser1735Asn	missense variant	-	NC_000002.12:g.27444478C>T	TOPMed,gnomAD
rs1444047678	p.Ser1735Gly	missense variant	-	NC_000002.12:g.27444479T>C	gnomAD
NCI-TCGA novel	p.Gln1736Arg	missense variant	-	NC_000002.12:g.27444475T>C	NCI-TCGA
rs1471965612	p.Trp1737Cys	missense variant	-	NC_000002.12:g.27444471C>G	TOPMed
rs267599318	p.Pro1742Leu	missense variant	-	NC_000002.12:g.27444457G>A	gnomAD
rs375519807	p.Ser1743Arg	missense variant	-	NC_000002.12:g.27444453G>T	ESP,ExAC,gnomAD
rs1414678869	p.Ser1745Asn	missense variant	-	NC_000002.12:g.27444448C>T	TOPMed
rs761254391	p.Ser1745Arg	missense variant	-	NC_000002.12:g.27444447G>C	ExAC,gnomAD
rs953161312	p.Phe1746Leu	missense variant	-	NC_000002.12:g.27444446A>G	gnomAD
rs1258203154	p.Ser1747Ala	missense variant	-	NC_000002.12:g.27444443A>C	gnomAD
rs776552648	p.Gln1749His	missense variant	-	NC_000002.12:g.27444435C>G	ExAC,TOPMed,gnomAD
COSM442747	p.Gln1749His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000002.12:g.27444435C>A	NCI-TCGA Cosmic
rs768540015	p.Ter1750Gln	stop lost	-	NC_000002.12:g.27444434A>G	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0004135	Ataxia Telangiectasia	disease	BEFREE
C0008370	Cholestasis	disease	HPO
C0014116	Endocardial Cushion Defects	group	BEFREE;MGD
C0017601	Glaucoma	disease	HPO
C0018777	Conductive hearing loss	disease	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	HPO
C0019209	Hepatomegaly	phenotype	HPO
C0020459	Hyperinsulinism	disease	HPO
C0020538	Hypertensive disease	group	HPO
C0020619	Hypogonadism	disease	HPO
C0022578	Keratoconus	disease	HPO
C0023012	Language Delay	phenotype	HPO
C0023492	Leukemia, T-Cell	disease	BEFREE
C0023493	Adult T-Cell Lymphoma/Leukemia	disease	BEFREE
C0024507	Majewski Syndrome	disease	CTD_human
C0025362	Mental Retardation	disease	HPO
C0025995	Micromelia	disease	HPO
C0028738	Nystagmus	disease	HPO
C0028754	Obesity	disease	HPO
C0029089	Ophthalmoplegia	phenotype	HPO
C0029124	Optic Atrophy	disease	HPO
C0029422	Osteochondrodysplasias	group	HPO
C0030305	Pancreatitis	disease	HPO
C0035229	Respiratory Insufficiency	phenotype	HPO
C0035304	Retinal Degeneration	phenotype	HPO
C0035334	Retinitis Pigmentosa	disease	HPO;ORPHANET
C0036069	Saldino-Noonan Syndrome	disease	CTD_human
C0036996	Short Rib-Polydactyly Syndrome	disease	CTD_human
C0038002	Splenomegaly	phenotype	HPO
C0085605	Liver Failure	disease	HPO
C0085636	Photophobia	phenotype	HPO
C0086543	Cataract	disease	HPO
C0086565	Liver Dysfunction	phenotype	HPO
C0151766	Liver function tests abnormal finding	phenotype	HPO
C0152427	Polydactyly	disease	GENOMICS_ENGLAND
C0202239	Uric acid measurement (procedure)	phenotype	GWASDB
C0220708	VATER Association	disease	MGD
C0221357	Brachydactyly	disease	HPO
C0233715	Speech impairment	phenotype	HPO
C0235996	Elevated liver enzymes	phenotype	HPO
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0239946	Fibrosis, Liver	disease	HPO
C0241210	Speech Delay	phenotype	HPO
C0265275	Jeune thoracic dystrophy	disease	ORPHANET
C0266423	Congenital anomaly of testis	group	HPO
C0266435	Congenital hypoplasia of penis	disease	HPO
C0271215	Blindness, Legal	disease	HPO
C0271561	Somatotropin deficiency	disease	BEFREE
C0280100	Solid Neoplasm	phenotype	BEFREE
C0349588	Short stature	phenotype	HPO
C0423903	Low intelligence	phenotype	HPO
C0426789	Short thorax	phenotype	HPO
C0426790	Narrow thorax	phenotype	HPO
C0426817	Short ribs	phenotype	HPO
C0431399	Familial aplasia of the vermis	disease	CLINVAR
C0431904	Ulnar polydactyly of fingers	disease	HPO
C0438237	Liver enzymes abnormal	phenotype	HPO
C0438717	Transaminases increased	phenotype	HPO
C0454644	Delayed speech and language development	phenotype	HPO
C0456909	Blindness	phenotype	HPO
C0476397	Electroretinogram abnormal	phenotype	HPO
C0497247	Increase in blood pressure	phenotype	HPO
C0554970	Pallor of optic disc	phenotype	HPO
C0685840	Congenital hypoplasia of ovary	disease	HPO
C0687120	Nephronophthisis	disease	HPO
C0748318	Progressive renal failure	phenotype	HPO
C0752166	Bardet-Biedl Syndrome	disease	BEFREE;ORPHANET
C0854723	Retinal Dystrophies	group	BEFREE
C0877359	Increased liver function tests	phenotype	HPO
C0917816	Mental deficiency	disease	HPO
C1389018	Atrioventricular Septal Defect	disease	BEFREE
C1406921	Thoracic dysplasia	disease	HPO
C1510497	Lens Opacities	phenotype	HPO
C1561643	Chronic Kidney Diseases	group	HPO
C1720508	Retinal pigment epithelial abnormality	phenotype	HPO
C1835452	Hypoplastic ovary	phenotype	HPO
C1837482	Thoracic hypoplasia	disease	HPO
C1839764	Broad flat nasal bridge	phenotype	HPO
C1840077	Anteverted nostril	phenotype	HPO
C1842003	Subclinical abnormal liver function tests	phenotype	HPO
C1842083	Abnormality of the ribs	phenotype	HPO
C1843367	Poor school performance	phenotype	HPO
C1848599	VACTERL Association With Hydrocephalus	disease	BEFREE
C1848673	Hypoplastic feet	phenotype	HPO
C1848701	Elevated hepatic transaminases	phenotype	HPO
C1849367	Nasal bridge wide	phenotype	HPO
C1849437	Mainzer-Saldino Disease	disease	BEFREE;ORPHANET
C1854912	Short long bone	phenotype	HPO
C1859480	Cone-shaped epiphyses of the phalanges of the hand	phenotype	HPO
C1860493	Abnormality of the sternum	phenotype	HPO
C1862475	Abnormality of retinal pigmentation	phenotype	HPO
C1865037	Cone-shaped epiphysis	phenotype	HPO
C1865186	Bell-shaped thorax	phenotype	HPO
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3278975	Attenuation of retinal blood vessels	phenotype	HPO
C3549252	response to statin	phenotype	GWASDB
C3714581	Multicystic Dysplastic Kidney	disease	HPO
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND;HPO
C3714796	Isolated somatotropin deficiency	disease	BEFREE
C3810175	SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY	disease	CLINVAR;UNIPROT
C4017084	SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY	phenotype	CLINVAR
C4017085	SHORT-RIB THORACIC DYSPLASIA 10 WITH POLYDACTYLY	phenotype	CLINVAR
C4020847	Abnormality of pelvic girdle bone morphology	phenotype	HPO
C4020855	Respiratory function loss	phenotype	HPO
C4020876	Dull intelligence	phenotype	HPO
C4020887	Photodysphoria	phenotype	HPO
C4021786	Atypical scarring of skin	phenotype	HPO
C4021792	Abnormality of the clavicle	phenotype	HPO
C4024753	Abnormality of the retinal vasculature	phenotype	HPO
C4024818	Progressive night blindness	phenotype	HPO
C4025814	Abnormality of the metaphysis	phenotype	HPO
C4225342	RETINITIS PIGMENTOSA 71	disease	CLINVAR;CTD_human;UNIPROT
C4277690	Ciliopathies	group	BEFREE;GENOMICS_ENGLAND
C4280567	Abnormal skeletal development	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001843	neural tube closure	IEA
GO:0001947	heart looping	IEA
GO:0007219	Notch signaling pathway	IEA
GO:0007224	smoothened signaling pathway	IEA
GO:0007420	brain development	IEA
GO:0008544	epidermis development	IEA
GO:0009953	dorsal/ventral pattern formation	IEA
GO:0016485	protein processing	IEA
GO:0021522	spinal cord motor neuron differentiation	IEA
GO:0031122	cytoplasmic microtubule organization	IEA
GO:0035735	intraciliary transport involved in cilium assembly	TAS
GO:0042073	intraciliary transport	IBA
GO:0045879	negative regulation of smoothened signaling pathway	IEA
GO:0045880	positive regulation of smoothened signaling pathway	IEA
GO:0048596	embryonic camera-type eye morphogenesis	IEA
GO:0050680	negative regulation of epithelial cell proliferation	IEA
GO:0060021	roof of mouth development	IEA
GO:0060173	limb development	IEA
GO:0060271	cilium assembly	ISS
GO:0060271	cilium assembly	IDA
GO:0060348	bone development	IEA
GO:0061525	hindgut development	IEA
GO:0070986	left/right axis specification	IEA
GO:1905515	non-motile cilium assembly	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005929	cilium	ISS
GO:0005929	cilium	TAS
GO:0005930	axoneme	IBA
GO:0030992	intraciliary transport particle B	ISS
GO:0030992	intraciliary transport particle B	IBA
GO:0036064	ciliary basal body	IBA
GO:0097225	sperm midpiece	IEA
GO:0097228	sperm principal piece	IEA
GO:0097542	ciliary tip	TAS
GO:0097598	sperm cytoplasmic droplet	IEA
GO:1903561	extracellular vesicle	HDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-1852241	Organelle biogenesis and maintenance	IEA
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5610787	Hedgehog 'off' state	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5617833	Cilium Assembly	IEA
R-HSA-5620924	Intraflagellar transport	TAS
R-HSA-5620924	Intraflagellar transport	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C111118	2',3,3',4',5-pentachloro-4-hydroxybiphenyl	2',3,3',4',5-pentachloro-4-hydroxybiphenyl results in decreased expression of IFT172 mRNA	19114083
C496492	abrine	abrine results in decreased expression of IFT172 mRNA	31054353
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of IFT172 polyA tail	30157460
D000077237	Arsenic Trioxide	[Tretinoin co-treated with Arsenic Trioxide] results in decreased expression of IFT172 mRNA	15894607
D001280	Atrazine	Atrazine results in decreased expression of IFT172 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of IFT172 mRNA	26238291
C006780	bisphenol A	bisphenol A affects the expression of IFT172 mRNA	21786754
C006780	bisphenol A	bisphenol A results in decreased expression of IFT172 mRNA	23557687
C006780	bisphenol A	bisphenol A results in decreased methylation of IFT172 intron	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of IFT172 mRNA	30816183
C006780	bisphenol A	bisphenol A results in increased expression of IFT172 mRNA	25181051
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of IFT172 mRNA	31150632
D002945	Cisplatin	Cisplatin results in decreased expression of IFT172 mRNA	27594783
D002945	Cisplatin	[Cisplatin co-treated with Lutein] results in decreased expression of IFT172 mRNA	24865317
D002945	Cisplatin	Cisplatin results in decreased expression of IFT172 mRNA	24865317
D002994	Clofibrate	Clofibrate results in decreased expression of IFT172 mRNA	12851107
D003671	DEET	[Pyridostigmine Bromide co-treated with DEET co-treated with Permethrin] results in increased expression of IFT172 mRNA	28659758
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of IFT172 mRNA]	27941970
C000944	dicrotophos	dicrotophos results in increased expression of IFT172 mRNA	28302478
D004317	Doxorubicin	Doxorubicin results in increased expression of IFT172 mRNA	29803840
D000431	Ethanol	Ethanol affects the expression of IFT172 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of IFT172 mRNA	17942748
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of IFT172 gene	15755804
C544151	jinfukang	jinfukang results in increased expression of IFT172 mRNA	27392435
C008261	lead acetate	lead acetate results in increased expression of IFT172 mRNA	29746905
D014975	Lutein	[Cisplatin co-treated with Lutein] results in decreased expression of IFT172 mRNA	24865317
D014975	Lutein	Lutein results in decreased expression of IFT172 mRNA	24865317
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of IFT172 mRNA	23458150
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of IFT172 mRNA	28001369
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of IFT172 mRNA	26011545
C016599	mono-(2-ethylhexyl)phthalate	mono-(2-ethylhexyl)phthalate results in decreased expression of IFT172 mRNA	31059758
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of IFT172 mRNA	25620056
D009532	Nickel	Nickel results in decreased expression of IFT172 mRNA	25583101
C014707	nitrosobenzylmethylamine	nitrosobenzylmethylamine results in decreased expression of IFT172 mRNA	17616710
D026023	Permethrin	[Pyridostigmine Bromide co-treated with DEET co-treated with Permethrin] results in increased expression of IFT172 mRNA	28659758
C006253	pirinixic acid	pirinixic acid results in decreased expression of IFT172 mRNA	17426115
D011729	Pyridostigmine Bromide	[Pyridostigmine Bromide co-treated with DEET co-treated with Permethrin] results in increased expression of IFT172 mRNA	28659758
D011794	Quercetin	Quercetin results in decreased expression of IFT172 mRNA	21632981
D012834	Silver	Silver results in decreased expression of IFT172 mRNA	19429238
D012834	Silver	Silver results in increased expression of IFT172 mRNA	27131904
C017947	sodium arsenite	sodium arsenite results in increased expression of IFT172 mRNA	29361514
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of IFT172 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of IFT172 mRNA	26290441
C009495	titanium dioxide	titanium dioxide results in decreased expression of IFT172 mRNA	23557971
D014212	Tretinoin	[Tretinoin co-treated with Arsenic Trioxide] results in decreased expression of IFT172 mRNA	15894607

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0007	Acetylation
KW-0025	Alternative splicing
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0969	Cilium
KW-0217	Developmental protein
KW-0225	Disease mutation
KW-1017	Isopeptide bond
KW-0488	Methylation
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0682	Retinitis pigmentosa
KW-0802	TPR repeat
KW-0832	Ubl conjugation
KW-0853	WD repeat

Interpro

InterPro ID	InterPro Term
IPR016024	ARM-type_fold
IPR011990	TPR-like_helical_dom_sf
IPR015943	WD40/YVTN_repeat-like_dom_sf
IPR001680	WD40_repeat
IPR036322	WD40_repeat_dom_sf

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term
PF00400	WD40

Gene: IFT172

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