CleftGeneDB-Search

Gene: PLXND1

Basic information

Tag	Content
Uniprot ID	Q9Y4D7; A7E2C6; C9JPZ6; Q6PJS9; Q8IZJ2; Q9BTQ2;
Entrez ID	23129
Genbank protein ID	AAM49063.1; AAH03526.1; AAH11848.1; BAA31595.2; AAI50281.1;
Genbank nucleotide ID	NM_015103.2
Ensembl protein ID	ENSP00000317128
Ensembl nucleotide ID	ENSG00000004399
Gene name	Plexin-D1
Gene symbol	PLXND1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Cell surface receptor for SEMA4A and for class 3 semaphorins, such as SEMA3A, SEMA3C and SEMA3E. Plays an important role in cell-cell signaling, and in regulating the migration of a wide spectrum of cell types. Regulates the migration of thymocytes in the medulla. Regulates endothelial cell migration. Plays an important role in ensuring the specificity of synapse formation. Required for normal development of the heart and vasculature (By similarity). Mediates anti-angiogenic signaling in response to SEMA3E.
Sequence	MAPRAAGGAP LSARAAAASP PPFQTPPRCP VPLLLLLLLG AARAGALEIQ RRFPSPTPTN 60 NFALDGAAGT VYLAAVNRLY QLSGANLSLE AEAAVGPVPD SPLCHAPQLP QASCEHPRRL 120 TDNYNKILQL DPGQGLVVVC GSIYQGFCQL RRRGNISAVA VRFPPAAPPA EPVTVFPSML 180 NVAANHPNAS TVGLVLPPAA GAGGSRLLVG ATYTGYGSSF FPRNRSLEDH RFENTPEIAI 240 RSLDTRGDLA KLFTFDLNPS DDNILKIKQG AKEQHKLGFV SAFLHPSDPP PGAQSYAYLA 300 LNSEARAGDK ESQARSLLAR ICLPHGAGGD AKKLTESYIQ LGLQCAGGAG RGDLYSRLVS 360 VFPARERLFA VFERPQGSPA ARAAPAALCA FRFADVRAAI RAARTACFVE PAPDVVAVLD 420 SVVQGTGPAC ERKLNIQLQP EQLDCGAAHL QHPLSILQPL KATPVFRAPG LTSVAVASVN 480 NYTAVFLGTV NGRLLKINLN ESMQVVSRRV VTVAYGEPVH HVMQFDPADS GYLYLMTSHQ 540 MARVKVAACN VHSTCGDCVG AADAYCGWCA LETRCTLQQD CTNSSQQHFW TSASEGPSRC 600 PAMTVLPSEI DVRQEYPGMI LQISGSLPSL SGMEMACDYG NNIRTVARVP GPAFGHQIAY 660 CNLLPRDQFP PFPPNQDHVT VEMSVRVNGR NIVKANFTIY DCSRTAQVYP HTACTSCLSA 720 QWPCFWCSQQ HSCVSNQSRC EASPNPTSPQ DCPRTLLSPL APVPTGGSQN ILVPLANTAF 780 FQGAALECSF GLEEIFEAVW VNESVVRCDQ VVLHTTRKSQ VFPLSLQLKG RPARFLDSPE 840 PMTVMVYNCA MGSPDCSQCL GREDLGHLCM WSDGCRLRGP LQPMAGTCPA PEIHAIEPLS 900 GPLDGGTLLT IRGRNLGRRL SDVAHGVWIG GVACEPLPDR YTVSEEIVCV TGPAPGPLSG 960 VVTVNASKEG KSRDRFSYVL PLVHSLEPTM GPKAGGTRIT IHGNDLHVGS ELQVLVNDTD 1020 PCTELMRTDT SIACTMPEGA LPAPVPVCVR FERRGCVHGN LTFWYMQNPV ITAISPRRSP 1080 VSGGRTITVA GERFHMVQNV SMAVHHIGRE PTLCKVLNST LITCPSPGAL SNASAPVDFF 1140 INGRAYADEV AVAEELLDPE EAQRGSRFRL DYLPNPQFST AKREKWIKHH PGEPLTLVIH 1200 KEQDSLGLQS HEYRVKIGQV SCDIQIVSDR IIHCSVNESL GAAVGQLPIT IQVGNFNQTI 1260 ATLQLGGSET AIIVSIVICS VLLLLSVVAL FVFCTKSRRA ERYWQKTLLQ MEEMESQIRE 1320 EIRKGFAELQ TDMTDLTKEL NRSQGIPFLE YKHFVTRTFF PKCSSLYEER YVLPSQTLNS 1380 QGSSQAQETH PLLGEWKIPE SCRPNMEEGI SLFSSLLNNK HFLIVFVHAL EQQKDFAVRD 1440 RCSLASLLTI ALHGKLEYYT SIMKELLVDL IDASAAKNPK LMLRRTESVV EKMLTNWMSI 1500 CMYSCLRETV GEPFFLLLCA IKQQINKGSI DAITGKARYT LSEEWLLREN IEAKPRNLNV 1560 SFQGCGMDSL SVRAMDTDTL TQVKEKILEA FCKNVPYSQW PRAEDVDLEW FASSTQSYIL 1620 RDLDDTSVVE DGRKKLNTLA HYKIPEGASL AMSLIDKKDN TLGRVKDLDT EKYFHLVLPT 1680 DELAEPKKSH RQSHRKKVLP EIYLTRLLST KGTLQKFLDD LFKAILSIRE DKPPLAVKYF 1740 FDFLEEQAEK RGISDPDTLH IWKTNSLPLR FWVNILKNPQ FVFDIDKTDH IDACLSVIAQ 1800 AFIDACSISD LQLGKDSPTN KLLYAKEIPE YRKIVQRYYK QIQDMTPLSE QEMNAHLAEE 1860 SRKYQNEFNT NVAMAEIYKY AKRYRPQIMA ALEANPTARR TQLQHKFEQV VALMEDNIYE 1920 CYSEA 1925

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
3H6N

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	PLXND1		E2RDE1		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	PLXND1		A0A452DYE9		Capra hircus	Prediction	More>>
1:1 ortholog	PLXND1	23129	Q9Y4D7		Homo sapiens	Prediction	More>>
1:1 ortholog	Plxnd1	67784	Q3UH93	CPO	Mus musculus	Publication	More>>
1:1 ortholog	PLXND1	460687	H2QNC7		Pan troglodytes	Prediction	More>>
1:1 ortholog	Plxnd1	312652	D4AA77		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1260240365	p.Pro3Leu	missense variant	-	NC_000003.12:g.129606632G>A	TOPMed
rs963148037	p.Arg4Gly	missense variant	-	NC_000003.12:g.129606630G>C	TOPMed,gnomAD
rs963148037	p.Arg4Cys	missense variant	-	NC_000003.12:g.129606630G>A	TOPMed,gnomAD
rs1480312019	p.Ala6Glu	missense variant	-	NC_000003.12:g.129606623G>T	TOPMed
rs1303859961	p.Gly8Ser	missense variant	-	NC_000003.12:g.129606618C>T	TOPMed,gnomAD
rs1157687213	p.Pro10Arg	missense variant	-	NC_000003.12:g.129606611G>C	TOPMed
rs1345242409	p.Leu11Phe	missense variant	-	NC_000003.12:g.129606609G>A	TOPMed
rs1454942801	p.Ser12Arg	missense variant	-	NC_000003.12:g.129606604G>T	TOPMed
rs1301198264	p.Ala13Pro	missense variant	-	NC_000003.12:g.129606603C>G	TOPMed
rs1364953462	p.Arg14Gln	missense variant	-	NC_000003.12:g.129606599C>T	TOPMed
rs1222310450	p.Ala18Thr	missense variant	-	NC_000003.12:g.129606588C>T	TOPMed
rs1373965511	p.Ser19Arg	missense variant	-	NC_000003.12:g.129606583G>T	TOPMed,gnomAD
rs1317568965	p.Pro21Gln	missense variant	-	NC_000003.12:g.129606578G>T	TOPMed
rs1160977926	p.Pro21Ser	missense variant	-	NC_000003.12:g.129606579G>A	gnomAD
rs1169498636	p.Thr25Arg	missense variant	-	NC_000003.12:g.129606566G>C	TOPMed,gnomAD
rs1169498636	p.Thr25Met	missense variant	-	NC_000003.12:g.129606566G>A	TOPMed,gnomAD
rs1420799602	p.Pro26Ala	missense variant	-	NC_000003.12:g.129606564G>C	gnomAD
rs778631621	p.Pro30Arg	missense variant	-	NC_000003.12:g.129606551G>C	ExAC,TOPMed,gnomAD
rs778631621	p.Pro30Leu	missense variant	-	NC_000003.12:g.129606551G>A	ExAC,TOPMed,gnomAD
rs754519108	p.Val31Met	missense variant	-	NC_000003.12:g.129606549C>T	ExAC,gnomAD
rs753372701	p.Pro32Leu	missense variant	-	NC_000003.12:g.129606545G>A	ExAC,gnomAD
rs753372701	p.Pro32Gln	missense variant	-	NC_000003.12:g.129606545G>T	ExAC,gnomAD
rs750256010	p.Gly40Arg	missense variant	-	NC_000003.12:g.129606522C>T	ExAC
rs767416969	p.Ala41Thr	missense variant	-	NC_000003.12:g.129606519C>T	ExAC,gnomAD
rs1255058227	p.Ala42Thr	missense variant	-	NC_000003.12:g.129606516C>T	TOPMed,gnomAD
rs761800341	p.Ala42Val	missense variant	-	NC_000003.12:g.129606515G>A	ExAC,gnomAD
rs768557084	p.Arg43Pro	missense variant	-	NC_000003.12:g.129606512C>G	ExAC,TOPMed,gnomAD
rs768557084	p.Arg43Gln	missense variant	-	NC_000003.12:g.129606512C>T	ExAC,TOPMed,gnomAD
rs1354295888	p.Gly45Cys	missense variant	-	NC_000003.12:g.129606507C>A	gnomAD
rs775527662	p.Leu47Gln	missense variant	-	NC_000003.12:g.129606500A>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu47GlyPheSerTerUnkUnkUnk	frameshift	-	NC_000003.12:g.129606501_129606502insGGCGCCGGCC	NCI-TCGA
rs1425245933	p.Glu48Asp	missense variant	-	NC_000003.12:g.129606496C>G	TOPMed
NCI-TCGA novel	p.Glu48Lys	missense variant	-	NC_000003.12:g.129606498C>T	NCI-TCGA
rs1227083211	p.Ile49Val	missense variant	-	NC_000003.12:g.129606495T>C	gnomAD
rs1352513765	p.Gln50His	missense variant	-	NC_000003.12:g.129606490C>G	TOPMed
rs770086679	p.Arg51Cys	missense variant	-	NC_000003.12:g.129606489G>A	ExAC,TOPMed,gnomAD
rs1288431822	p.Arg52Leu	missense variant	-	NC_000003.12:g.129606485C>A	TOPMed,gnomAD
rs746188556	p.Pro54Ser	missense variant	-	NC_000003.12:g.129606480G>A	ExAC,gnomAD
rs1374332054	p.Ser55Ter	stop gained	-	NC_000003.12:g.129606476G>T	TOPMed
rs781724372	p.Thr59Ile	missense variant	-	NC_000003.12:g.129606464G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn61Ser	missense variant	-	NC_000003.12:g.129606458T>C	NCI-TCGA
rs771559022	p.Ala63Thr	missense variant	-	NC_000003.12:g.129606453C>T	ExAC,gnomAD
rs754395648	p.Leu64Met	missense variant	-	NC_000003.12:g.129606450G>T	ExAC,gnomAD
rs1183008464	p.Ala67Val	missense variant	-	NC_000003.12:g.129606440G>A	gnomAD
rs1412539640	p.Ala67Ser	missense variant	-	NC_000003.12:g.129606441C>A	gnomAD
rs1248769953	p.Ala68Thr	missense variant	-	NC_000003.12:g.129606438C>T	gnomAD
rs1195413215	p.Thr70Ser	missense variant	-	NC_000003.12:g.129606431G>C	TOPMed,gnomAD
rs1458821734	p.Val71Met	missense variant	-	NC_000003.12:g.129606429C>T	TOPMed
rs767369760	p.Tyr72Ter	stop gained	-	NC_000003.12:g.129606424G>C	ExAC,TOPMed,gnomAD
rs1401198801	p.Ala75Val	missense variant	-	NC_000003.12:g.129606416G>A	gnomAD
rs1334779973	p.Val76Ile	missense variant	-	NC_000003.12:g.129606414C>T	gnomAD
rs1334779973	p.Val76Leu	missense variant	-	NC_000003.12:g.129606414C>G	gnomAD
rs1289507835	p.Val76Ala	missense variant	-	NC_000003.12:g.129606413A>G	gnomAD
rs751444874	p.Asn77Thr	missense variant	-	NC_000003.12:g.129606410T>G	ExAC,gnomAD
rs1229765295	p.Asn77His	missense variant	-	NC_000003.12:g.129606411T>G	gnomAD
rs764117806	p.Tyr80His	missense variant	-	NC_000003.12:g.129606402A>G	ExAC,TOPMed,gnomAD
rs531174147	p.Tyr80Cys	missense variant	-	NC_000003.12:g.129606401T>C	1000Genomes,ExAC,gnomAD
rs1369240984	p.Ser83Trp	missense variant	-	NC_000003.12:g.129606392G>C	gnomAD
rs1417364628	p.Gly84Val	missense variant	-	NC_000003.12:g.129606389C>A	TOPMed
rs1389364359	p.Leu87Met	missense variant	-	NC_000003.12:g.129606381G>T	gnomAD
rs776995725	p.Leu89Pro	missense variant	-	NC_000003.12:g.129606374A>G	ExAC,TOPMed,gnomAD
rs771362596	p.Glu90Gln	missense variant	-	NC_000003.12:g.129606372C>G	ExAC,gnomAD
rs1181117334	p.Ala91Val	missense variant	-	NC_000003.12:g.129606368G>A	gnomAD
rs773547941	p.Glu92Ala	missense variant	-	NC_000003.12:g.129606365T>G	ExAC,gnomAD
rs1269662123	p.Glu92Gln	missense variant	-	NC_000003.12:g.129606366C>G	gnomAD
rs1449322593	p.Ala93Glu	missense variant	-	NC_000003.12:g.129606362G>T	TOPMed
rs1269362763	p.Ala94Val	missense variant	-	NC_000003.12:g.129606359G>A	gnomAD
rs1382102748	p.Val95Met	missense variant	-	NC_000003.12:g.129606357C>T	TOPMed
rs755720909	p.Val98Met	missense variant	-	NC_000003.12:g.129606348C>T	ExAC,gnomAD
rs1313606003	p.Val98Gly	missense variant	-	NC_000003.12:g.129606347A>C	gnomAD
rs1439983256	p.Pro102Leu	missense variant	-	NC_000003.12:g.129606335G>A	TOPMed,gnomAD
rs1214289026	p.His105Tyr	missense variant	-	NC_000003.12:g.129606327G>A	TOPMed
rs1214289026	p.His105Tyr	missense variant	-	NC_000003.12:g.129606327G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.His105Gln	missense variant	-	NC_000003.12:g.129606325G>C	NCI-TCGA
rs1380481569	p.Ala106Ser	missense variant	-	NC_000003.12:g.129606324C>A	gnomAD
rs1384069840	p.Ala106Val	missense variant	-	NC_000003.12:g.129606323G>A	gnomAD
rs548908802	p.Pro110Gln	missense variant	-	NC_000003.12:g.129606311G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs548908802	p.Pro110Leu	missense variant	-	NC_000003.12:g.129606311G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1171972581	p.Ala112Thr	missense variant	-	NC_000003.12:g.129606306C>T	gnomAD
rs1415454890	p.Ala112Gly	missense variant	-	NC_000003.12:g.129606305G>C	TOPMed,gnomAD
rs1262172553	p.Glu115Lys	missense variant	-	NC_000003.12:g.129606297C>T	TOPMed
rs763907195	p.His116Gln	missense variant	-	NC_000003.12:g.129606292G>T	ExAC,gnomAD
rs758411946	p.Pro117Ser	missense variant	-	NC_000003.12:g.129606291G>A	ExAC,TOPMed,gnomAD
rs752707971	p.Arg118Trp	missense variant	-	NC_000003.12:g.129606288G>A	ExAC,TOPMed,gnomAD
rs752707971	p.Arg118Gly	missense variant	-	NC_000003.12:g.129606288G>C	ExAC,TOPMed,gnomAD
rs1445783177	p.Arg119His	missense variant	-	NC_000003.12:g.129606284C>T	gnomAD
NCI-TCGA novel	p.Arg119Cys	missense variant	-	NC_000003.12:g.129606285G>A	NCI-TCGA
rs529666455	p.Tyr124Cys	missense variant	-	NC_000003.12:g.129606269T>C	1000Genomes,ExAC,gnomAD
rs1346506750	p.Lys126Asn	missense variant	-	NC_000003.12:g.129606262C>A	gnomAD
rs976714986	p.Lys126Arg	missense variant	-	NC_000003.12:g.129606263T>C	gnomAD
rs759699766	p.Ile127Met	missense variant	-	NC_000003.12:g.129606259G>C	ExAC,gnomAD
rs1174533835	p.Gln129Leu	missense variant	-	NC_000003.12:g.129606254T>A	TOPMed
rs370289454	p.Gln129Lys	missense variant	-	NC_000003.12:g.129606255G>T	ESP,ExAC,TOPMed,gnomAD
rs1342374683	p.Asp131Asn	missense variant	-	NC_000003.12:g.129606249C>T	gnomAD
rs1299585652	p.Pro132Ser	missense variant	-	NC_000003.12:g.129606246G>A	TOPMed,gnomAD
rs761086539	p.Gly133Ser	missense variant	-	NC_000003.12:g.129606243C>T	ExAC,gnomAD
rs773670982	p.Gly135Ala	missense variant	-	NC_000003.12:g.129606236C>G	ExAC,gnomAD
rs773670982	p.Gly135Val	missense variant	-	NC_000003.12:g.129606236C>A	ExAC,gnomAD
rs1334737721	p.Gly135Cys	missense variant	-	NC_000003.12:g.129606237C>A	gnomAD
rs1311085484	p.Val137Ile	missense variant	-	NC_000003.12:g.129606231C>T	gnomAD
rs1336256981	p.Val137Glu	missense variant	-	NC_000003.12:g.129606230A>T	TOPMed
rs1390951517	p.Val138Ile	missense variant	-	NC_000003.12:g.129606228C>T	gnomAD
rs377413187	p.Ile143Val	missense variant	-	NC_000003.12:g.129606213T>C	ESP,ExAC,TOPMed,gnomAD
rs1254805265	p.Phe147Leu	missense variant	-	NC_000003.12:g.129606199G>T	gnomAD
rs1254805265	p.Phe147Leu	missense variant	-	NC_000003.12:g.129606199G>T	NCI-TCGA
rs1483186110	p.Cys148Ter	stop gained	-	NC_000003.12:g.129606196G>T	gnomAD
rs1209479681	p.Cys148Tyr	missense variant	-	NC_000003.12:g.129606197C>T	gnomAD
rs1276318098	p.Arg152Ser	missense variant	-	NC_000003.12:g.129606186G>T	gnomAD
rs541086419	p.Arg152His	missense variant	-	NC_000003.12:g.129606185C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs541086419	p.Arg152Leu	missense variant	-	NC_000003.12:g.129606185C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1284756688	p.Arg153Gln	missense variant	-	NC_000003.12:g.129606182C>T	TOPMed,gnomAD
rs904188532	p.Arg153Gly	missense variant	-	NC_000003.12:g.129606183G>C	TOPMed,gnomAD
rs756944363	p.Gly154Ser	missense variant	-	NC_000003.12:g.129606180C>T	ExAC,gnomAD
rs1323825887	p.Ile156Val	missense variant	-	NC_000003.12:g.129606174T>C	TOPMed
rs1414188227	p.Ala158Thr	missense variant	-	NC_000003.12:g.129606168C>T	gnomAD
rs1414188227	p.Ala158Ser	missense variant	-	NC_000003.12:g.129606168C>A	gnomAD
rs1371468766	p.Ala158Val	missense variant	-	NC_000003.12:g.129606167G>A	gnomAD
rs1408616227	p.Val161Leu	missense variant	-	NC_000003.12:g.129606159C>G	gnomAD
rs1219631844	p.Arg162Ser	missense variant	-	NC_000003.12:g.129606156G>T	TOPMed,gnomAD
rs1219631844	p.Arg162Gly	missense variant	-	NC_000003.12:g.129606156G>C	TOPMed,gnomAD
rs1265324340	p.Ala167Pro	missense variant	-	NC_000003.12:g.129606141C>G	TOPMed
rs1416245511	p.Ala170Gly	missense variant	-	NC_000003.12:g.129606131G>C	gnomAD
rs1186672632	p.Pro172Ser	missense variant	-	NC_000003.12:g.129606126G>A	TOPMed,gnomAD
rs1472629494	p.Pro172Leu	missense variant	-	NC_000003.12:g.129606125G>A	gnomAD
rs1201975559	p.Val173Ile	missense variant	-	NC_000003.12:g.129606123C>T	TOPMed,gnomAD
rs1201975559	p.Val173Leu	missense variant	-	NC_000003.12:g.129606123C>G	TOPMed,gnomAD
rs752620942	p.Val175Leu	missense variant	-	NC_000003.12:g.129606117C>G	ExAC,gnomAD
rs778736878	p.Ser178Gly	missense variant	-	NC_000003.12:g.129606108T>C	ExAC,gnomAD
rs755069383	p.Asn181Ser	missense variant	-	NC_000003.12:g.129606098T>C	ExAC,gnomAD
rs1232825860	p.Val182Met	missense variant	-	NC_000003.12:g.129606096C>T	gnomAD
NCI-TCGA novel	p.Val182AlaPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.129606095_129606096insAGGAG	NCI-TCGA
rs1281540526	p.Ala184Thr	missense variant	-	NC_000003.12:g.129606090C>T	gnomAD
rs761033342	p.Val195Ile	missense variant	-	NC_000003.12:g.129606057C>T	ExAC,TOPMed,gnomAD
rs750746281	p.Val195Ala	missense variant	-	NC_000003.12:g.129606056A>G	ExAC,gnomAD
rs1409550860	p.Pro198Ser	missense variant	-	NC_000003.12:g.129606048G>A	gnomAD
rs866799715	p.Pro198Leu	missense variant	-	NC_000003.12:g.129606047G>A	gnomAD
rs762099940	p.Ala200Thr	missense variant	-	NC_000003.12:g.129606042C>T	ExAC,TOPMed,gnomAD
rs576936448	p.Ala202Thr	missense variant	-	NC_000003.12:g.129606036C>T	1000Genomes,ExAC,gnomAD
rs769185921	p.Gly204Ser	missense variant	-	NC_000003.12:g.129606030C>T	ExAC,gnomAD
rs1460630165	p.Arg206Ser	missense variant	-	NC_000003.12:g.129606024G>T	gnomAD
rs759016421	p.Leu208Phe	missense variant	-	NC_000003.12:g.129606018G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val209Met	missense variant	-	NC_000003.12:g.129606015C>T	NCI-TCGA
rs776168438	p.Gly210Val	missense variant	-	NC_000003.12:g.129606011C>A	ExAC,TOPMed,gnomAD
rs1349317894	p.Ala211Val	missense variant	-	NC_000003.12:g.129606008G>A	TOPMed
rs1350246913	p.Thr212Lys	missense variant	-	NC_000003.12:g.129606005G>T	gnomAD
rs910538669	p.Thr214Asn	missense variant	-	NC_000003.12:g.129605999G>T	gnomAD
rs910538669	p.Thr214Ser	missense variant	-	NC_000003.12:g.129605999G>C	gnomAD
rs770559793	p.Gly215Arg	missense variant	-	NC_000003.12:g.129605997C>G	ExAC,gnomAD
rs1287996730	p.Tyr216Cys	missense variant	-	NC_000003.12:g.129605993T>C	TOPMed
rs1325591539	p.Gly217Ser	missense variant	-	NC_000003.12:g.129605991C>T	gnomAD
rs920158012	p.Gly217Asp	missense variant	-	NC_000003.12:g.129605990C>T	TOPMed
rs1436499601	p.Ser218Ile	missense variant	-	NC_000003.12:g.129605987C>A	gnomAD
rs777303394	p.Ser218Arg	missense variant	-	NC_000003.12:g.129605986G>C	ExAC,gnomAD
rs1190974444	p.Phe221Leu	missense variant	-	NC_000003.12:g.129605979A>G	gnomAD
rs1269369341	p.Arg223His	missense variant	-	NC_000003.12:g.129605972C>T	TOPMed
rs771848852	p.Asn224Thr	missense variant	-	NC_000003.12:g.129605969T>G	ExAC,gnomAD
rs1399605966	p.Arg225Cys	missense variant	-	NC_000003.12:g.129605967G>A	gnomAD
rs747925447	p.Arg225Leu	missense variant	-	NC_000003.12:g.129605966C>A	ExAC,gnomAD
rs1201248968	p.His230Tyr	missense variant	-	NC_000003.12:g.129605952G>A	TOPMed
rs753949955	p.Arg231His	missense variant	-	NC_000003.12:g.129605948C>T	ExAC,gnomAD
NCI-TCGA novel	p.Phe232SerPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.129605921_129605945ATGGCGATCTCGGGCGTGTTCTCGA>-	NCI-TCGA
NCI-TCGA novel	p.Phe232Leu	missense variant	-	NC_000003.12:g.129605944G>T	NCI-TCGA
COSM3427039	p.Glu233Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129605941C>A	NCI-TCGA Cosmic
rs1486810697	p.Thr235Met	missense variant	-	NC_000003.12:g.129605936G>A	gnomAD
rs1240227129	p.Ala239Thr	missense variant	-	NC_000003.12:g.129605925C>T	gnomAD
rs1213813427	p.Arg241Cys	missense variant	-	NC_000003.12:g.129605919G>A	gnomAD
rs1213813427	p.Arg241Cys	missense variant	-	NC_000003.12:g.129605919G>A	NCI-TCGA
rs756264701	p.Ser242Phe	missense variant	-	NC_000003.12:g.129605915G>A	ExAC,TOPMed,gnomAD
rs780344713	p.Ser242Ala	missense variant	-	NC_000003.12:g.129605916A>C	ExAC,gnomAD
rs756264701	p.Ser242Tyr	missense variant	-	NC_000003.12:g.129605915G>T	ExAC,TOPMed,gnomAD
rs1303131530	p.Asp244Asn	missense variant	-	NC_000003.12:g.129605910C>T	TOPMed,gnomAD
rs543209942	p.Arg246Pro	missense variant	-	NC_000003.12:g.129605903C>G	1000Genomes,ExAC,gnomAD
rs201381915	p.Arg246Ser	missense variant	-	NC_000003.12:g.129605904G>T	ExAC,TOPMed,gnomAD
rs201381915	p.Arg246Cys	missense variant	-	NC_000003.12:g.129605904G>A	ExAC,TOPMed,gnomAD
rs1429467996	p.Gly247Ser	missense variant	-	NC_000003.12:g.129605901C>T	gnomAD
rs1359218411	p.Asp248Asn	missense variant	-	NC_000003.12:g.129605898C>T	gnomAD
rs1432513227	p.Ala250Thr	missense variant	-	NC_000003.12:g.129605892C>T	gnomAD
COSM479402	p.Lys251Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129605887C>A	NCI-TCGA Cosmic
rs1169003875	p.Phe253Tyr	missense variant	-	NC_000003.12:g.129605882A>T	gnomAD
rs760123698	p.Asp256Asn	missense variant	-	NC_000003.12:g.129605874C>T	ExAC,gnomAD
rs772880149	p.Asp256Glu	missense variant	-	NC_000003.12:g.129605872G>T	ExAC,gnomAD
rs1258354760	p.Leu257Phe	missense variant	-	NC_000003.12:g.129605871G>A	gnomAD
rs1484819967	p.Asn258Ser	missense variant	-	NC_000003.12:g.129605867T>C	gnomAD
rs768707128	p.Asp262Tyr	missense variant	-	NC_000003.12:g.129605856C>A	ExAC,gnomAD
rs780156510	p.Leu265Val	missense variant	-	NC_000003.12:g.129605847G>C	ExAC,gnomAD
rs1245112959	p.Ile267Met	missense variant	-	NC_000003.12:g.129605839G>C	TOPMed
rs1199445567	p.Ile267Val	missense variant	-	NC_000003.12:g.129605841T>C	gnomAD
rs1339148882	p.Lys268Glu	missense variant	-	NC_000003.12:g.129605838T>C	gnomAD
rs1268751525	p.Gln269His	missense variant	-	NC_000003.12:g.129605833C>G	gnomAD
rs1380478054	p.Gly270Asp	missense variant	-	NC_000003.12:g.129605831C>T	gnomAD
rs745969225	p.Ala271Asp	missense variant	-	NC_000003.12:g.129605828G>T	ExAC,TOPMed,gnomAD
rs756173220	p.Ala271Ser	missense variant	-	NC_000003.12:g.129605829C>A	ExAC,gnomAD
rs201057995	p.His275Gln	missense variant	-	NC_000003.12:g.129605815G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1169433745	p.Lys276Asn	missense variant	-	NC_000003.12:g.129605812C>A	gnomAD
rs764511186	p.Lys276Arg	missense variant	-	NC_000003.12:g.129605813T>C	ExAC
rs758769129	p.Leu277Val	missense variant	-	NC_000003.12:g.129605811G>C	ExAC,gnomAD
rs753152584	p.Val280Leu	missense variant	-	NC_000003.12:g.129605802C>G	ExAC,TOPMed,gnomAD
rs765763651	p.Ser281Asn	missense variant	-	NC_000003.12:g.129605798C>T	ExAC,gnomAD
rs760200531	p.Ala282Ser	missense variant	-	NC_000003.12:g.129605796C>A	ExAC,gnomAD
rs199609621	p.Phe283Leu	missense variant	-	NC_000003.12:g.129605793A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs767180864	p.Phe283Leu	missense variant	-	NC_000003.12:g.129605791G>T	ExAC,TOPMed,gnomAD
rs761435693	p.Leu284Val	missense variant	-	NC_000003.12:g.129605790G>C	ExAC,TOPMed,gnomAD
rs200556177	p.His285Tyr	missense variant	-	NC_000003.12:g.129605787G>A	1000Genomes,ExAC,gnomAD
rs768510814	p.Pro286Arg	missense variant	-	NC_000003.12:g.129605783G>C	ExAC,TOPMed,gnomAD
rs1230997195	p.Ser287Ala	missense variant	-	NC_000003.12:g.129605781A>C	TOPMed,gnomAD
rs1166527146	p.Ser287Cys	missense variant	-	NC_000003.12:g.129605780G>C	TOPMed
rs1354243255	p.Asp288Tyr	missense variant	-	NC_000003.12:g.129605778C>A	gnomAD
rs761800196	p.Pro289Arg	missense variant	-	NC_000003.12:g.129605774G>C	ExAC,TOPMed,gnomAD
rs761800196	p.Pro289Leu	missense variant	-	NC_000003.12:g.129605774G>A	ExAC,TOPMed,gnomAD
rs775530664	p.Pro290Leu	missense variant	-	NC_000003.12:g.129605771G>A	ExAC,gnomAD
rs769663537	p.Pro291Arg	missense variant	-	NC_000003.12:g.129605768G>C	ExAC,gnomAD
rs769663537	p.Pro291Leu	missense variant	-	NC_000003.12:g.129605768G>A	ExAC,gnomAD
rs79870266	p.Gly292Ala	missense variant	-	NC_000003.12:g.129605765C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79870266	p.Gly292Val	missense variant	-	NC_000003.12:g.129605765C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79870266	p.Gly292Asp	missense variant	-	NC_000003.12:g.129605765C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1465782551	p.Tyr296Cys	missense variant	-	NC_000003.12:g.129605753T>C	gnomAD
rs376671922	p.Ala297Thr	missense variant	-	NC_000003.12:g.129605751C>T	ESP,ExAC,TOPMed,gnomAD
rs1459990912	p.Ala297Val	missense variant	-	NC_000003.12:g.129605750G>A	gnomAD
rs1159879952	p.Leu299Arg	missense variant	-	NC_000003.12:g.129605744A>C	gnomAD
rs942266675	p.Glu304Lys	missense variant	-	NC_000003.12:g.129605730C>T	TOPMed
rs1047081915	p.Ala305Ser	missense variant	-	NC_000003.12:g.129605727C>A	TOPMed,gnomAD
rs1248619934	p.Gly308Asp	missense variant	-	NC_000003.12:g.129605717C>T	gnomAD
rs1469187492	p.Asp309Glu	missense variant	-	NC_000003.12:g.129605713G>C	gnomAD
rs1255495434	p.Glu311Lys	missense variant	-	NC_000003.12:g.129605709C>T	gnomAD
rs777985936	p.Ser312Arg	missense variant	-	NC_000003.12:g.129605704G>T	ExAC,gnomAD
rs1199481779	p.Ser312Gly	missense variant	-	NC_000003.12:g.129605706T>C	TOPMed
rs1240486478	p.Ala314Val	missense variant	-	NC_000003.12:g.129605699G>A	TOPMed,gnomAD
rs1260806678	p.Ala314Thr	missense variant	-	NC_000003.12:g.129605700C>T	gnomAD
rs1305844037	p.Arg315Leu	missense variant	-	NC_000003.12:g.129605696C>A	TOPMed,gnomAD
rs1305844037	p.Arg315Gln	missense variant	-	NC_000003.12:g.129605696C>T	TOPMed,gnomAD
rs758720185	p.Ser316Asn	missense variant	-	NC_000003.12:g.129605693C>T	ExAC,TOPMed,gnomAD
rs1323593306	p.Ala319Pro	missense variant	-	NC_000003.12:g.129605685C>G	gnomAD
rs948207546	p.Ala319Val	missense variant	-	NC_000003.12:g.129605684G>A	TOPMed,gnomAD
rs1372838674	p.Arg320His	missense variant	-	NC_000003.12:g.129605681C>T	TOPMed
rs1389207607	p.Arg320Cys	missense variant	-	NC_000003.12:g.129605682G>A	gnomAD
rs1455399849	p.Pro324Ser	missense variant	-	NC_000003.12:g.129605670G>A	gnomAD
rs1052527824	p.His325Gln	missense variant	-	NC_000003.12:g.129605665G>T	gnomAD
rs934524798	p.Gly326Asp	missense variant	-	NC_000003.12:g.129605663C>T	TOPMed,gnomAD
rs1240034410	p.Ala327Asp	missense variant	-	NC_000003.12:g.129605660G>T	gnomAD
rs1192068192	p.Gly328Ser	missense variant	-	NC_000003.12:g.129605658C>T	gnomAD
rs916795998	p.Gly329Arg	missense variant	-	NC_000003.12:g.129605655C>G	TOPMed
rs1206442677	p.Ala331Ser	missense variant	-	NC_000003.12:g.129605649C>A	gnomAD
rs1484588309	p.Lys333Glu	missense variant	-	NC_000003.12:g.129605643T>C	gnomAD
rs1259835722	p.Leu334Ile	missense variant	-	NC_000003.12:g.129605640G>T	gnomAD
rs1259835722	p.Leu334Phe	missense variant	-	NC_000003.12:g.129605640G>A	gnomAD
rs959839187	p.Glu336Asp	missense variant	-	NC_000003.12:g.129605632C>A	TOPMed
rs1349554813	p.Ile339Thr	missense variant	-	NC_000003.12:g.129605624A>G	gnomAD
rs1300994448	p.Gln340Glu	missense variant	-	NC_000003.12:g.129605622G>C	gnomAD
rs1233220868	p.Leu341Phe	missense variant	-	NC_000003.12:g.129605617C>G	gnomAD
rs1327014254	p.Gly342Asp	missense variant	-	NC_000003.12:g.129605615C>T	gnomAD
rs1340879584	p.Gln344Lys	missense variant	-	NC_000003.12:g.129605610G>T	TOPMed
rs1384036765	p.Gly347Ser	missense variant	-	NC_000003.12:g.129605601C>T	gnomAD
rs1382908892	p.Gly347Val	missense variant	-	NC_000003.12:g.129605600C>A	TOPMed,gnomAD
rs1382908892	p.Gly347Asp	missense variant	-	NC_000003.12:g.129605600C>T	TOPMed,gnomAD
rs1377440617	p.Gly352Arg	missense variant	-	NC_000003.12:g.129605586C>G	gnomAD
rs753099478	p.Ser356Ile	missense variant	-	NC_000003.12:g.129605573C>A	ExAC,gnomAD
rs1195923628	p.Ser356Gly	missense variant	-	NC_000003.12:g.129605574T>C	gnomAD
rs1486458440	p.Ala364Thr	missense variant	-	NC_000003.12:g.129605550C>T	TOPMed,gnomAD
rs1209979229	p.Arg367Trp	missense variant	-	NC_000003.12:g.129605541G>A	gnomAD
NCI-TCGA novel	p.Arg367Leu	missense variant	-	NC_000003.12:g.129605540C>A	NCI-TCGA
rs755496000	p.Leu368Phe	missense variant	-	NC_000003.12:g.129605538G>A	ExAC,TOPMed,gnomAD
rs1225190365	p.Ala370Thr	missense variant	-	NC_000003.12:g.129605532C>T	gnomAD
rs959821221	p.Ala370Val	missense variant	-	NC_000003.12:g.129605531G>A	gnomAD
rs1325715967	p.Phe372Leu	missense variant	-	NC_000003.12:g.129605524G>C	gnomAD
rs966980044	p.Arg374Trp	missense variant	-	NC_000003.12:g.129605520G>A	TOPMed,gnomAD
rs749940222	p.Pro375Ala	missense variant	-	NC_000003.12:g.129605517G>C	ExAC,gnomAD
rs1432258926	p.Gln376Ter	stop gained	-	NC_000003.12:g.129605514G>A	TOPMed
rs1176387578	p.Gln376Arg	missense variant	-	NC_000003.12:g.129605513T>C	TOPMed
rs1357670294	p.Gly377Ala	missense variant	-	NC_000003.12:g.129605510C>G	gnomAD
rs1357670294	p.Gly377Glu	missense variant	-	NC_000003.12:g.129605510C>T	gnomAD
rs1311254322	p.Pro379Ser	missense variant	-	NC_000003.12:g.129605505G>A	gnomAD
rs1035888660	p.Ala381Thr	missense variant	-	NC_000003.12:g.129605499C>T	gnomAD
rs1169970036	p.Ala381Val	missense variant	-	NC_000003.12:g.129605498G>A	gnomAD
rs1442549086	p.Arg382His	missense variant	-	NC_000003.12:g.129605495C>T	gnomAD
rs766868357	p.Arg382Cys	missense variant	-	NC_000003.12:g.129605496G>A	ExAC,gnomAD
rs1372953643	p.Ala383Pro	missense variant	-	NC_000003.12:g.129605493C>G	TOPMed,gnomAD
rs1372953643	p.Ala383Ser	missense variant	-	NC_000003.12:g.129605493C>A	TOPMed,gnomAD
rs761398038	p.Ala384Ser	missense variant	-	NC_000003.12:g.129605490C>A	ExAC,TOPMed
rs1255012579	p.Pro385Arg	missense variant	-	NC_000003.12:g.129605486G>C	TOPMed,gnomAD
rs1475900601	p.Pro385Ala	missense variant	-	NC_000003.12:g.129605487G>C	gnomAD
rs1186756832	p.Ala387Thr	missense variant	-	NC_000003.12:g.129605481C>T	gnomAD
rs1186756832	p.Ala387Ser	missense variant	-	NC_000003.12:g.129605481C>A	gnomAD
rs1326686000	p.Leu388Phe	missense variant	-	NC_000003.12:g.129605478G>A	gnomAD
rs774100616	p.Ala390Thr	missense variant	-	NC_000003.12:g.129605472C>T	ExAC,gnomAD
rs1274862907	p.Phe391Ile	missense variant	-	NC_000003.12:g.129605469A>T	gnomAD
rs763873909	p.Arg392Cys	missense variant	-	NC_000003.12:g.129605466G>A	ExAC,gnomAD
rs763873909	p.Arg392Ser	missense variant	-	NC_000003.12:g.129605466G>T	ExAC,gnomAD
rs1338731468	p.Ala394Val	missense variant	-	NC_000003.12:g.129605459G>A	gnomAD
rs1018135442	p.Asp395Asn	missense variant	-	NC_000003.12:g.129605457C>T	TOPMed,gnomAD
rs962207536	p.Val396Leu	missense variant	-	NC_000003.12:g.129605454C>G	TOPMed,gnomAD
rs962207536	p.Val396Met	missense variant	-	NC_000003.12:g.129605454C>T	TOPMed,gnomAD
rs1336510996	p.Ala398Thr	missense variant	-	NC_000003.12:g.129605448C>T	gnomAD
rs1008460441	p.Ala399Thr	missense variant	-	NC_000003.12:g.129605445C>T	TOPMed,gnomAD
rs1267172845	p.Ala399Val	missense variant	-	NC_000003.12:g.129605444G>A	TOPMed
rs1008460441	p.Ala399Ser	missense variant	-	NC_000003.12:g.129605445C>A	TOPMed,gnomAD
rs1166250352	p.Ala402Val	missense variant	-	NC_000003.12:g.129605435G>A	gnomAD
rs1462608717	p.Ala403Val	missense variant	-	NC_000003.12:g.129605432G>A	gnomAD
rs1415056242	p.Arg404Leu	missense variant	-	NC_000003.12:g.129605429C>A	gnomAD
rs769757634	p.Ala406Pro	missense variant	-	NC_000003.12:g.129605424C>G	ExAC,TOPMed,gnomAD
rs769757634	p.Ala406Ser	missense variant	-	NC_000003.12:g.129605424C>A	ExAC,TOPMed,gnomAD
rs1157538964	p.Ala406Gly	missense variant	-	NC_000003.12:g.129605423G>C	TOPMed
rs745859959	p.Phe408Leu	missense variant	-	NC_000003.12:g.129605416G>C	ExAC,gnomAD
rs889333181	p.Val409Met	missense variant	-	NC_000003.12:g.129605415C>T	TOPMed,gnomAD
rs889333181	p.Val409Leu	missense variant	-	NC_000003.12:g.129605415C>A	TOPMed,gnomAD
rs776637104	p.Ala412Thr	missense variant	-	NC_000003.12:g.129605406C>T	ExAC,gnomAD
rs1215507895	p.Val416Gly	missense variant	-	NC_000003.12:g.129605393A>C	gnomAD
rs1332536944	p.Ala417Val	missense variant	-	NC_000003.12:g.129605390G>A	gnomAD
rs1351746021	p.Leu419Phe	missense variant	-	NC_000003.12:g.129605385G>A	gnomAD
rs1237391198	p.Asp420Asn	missense variant	-	NC_000003.12:g.129605382C>T	gnomAD
rs1237391198	p.Asp420Tyr	missense variant	-	NC_000003.12:g.129605382C>A	gnomAD
rs1326942294	p.Ser421Gly	missense variant	-	NC_000003.12:g.129605379T>C	gnomAD
rs1443752478	p.Ser421Asn	missense variant	-	NC_000003.12:g.129605378C>T	gnomAD
rs1322367843	p.Val422Met	missense variant	-	NC_000003.12:g.129605376C>T	gnomAD
rs1409762255	p.Val423Met	missense variant	-	NC_000003.12:g.129605373C>T	gnomAD
rs1395489122	p.Gln424Arg	missense variant	-	NC_000003.12:g.129605369T>C	gnomAD
rs868772952	p.Gln424Ter	stop gained	-	NC_000003.12:g.129605370G>A	gnomAD
rs1395489122	p.Gln424Leu	missense variant	-	NC_000003.12:g.129605369T>A	gnomAD
rs1252282879	p.Gly425Asp	missense variant	-	NC_000003.12:g.129605366C>T	gnomAD
rs1467095603	p.Gly425Ser	missense variant	-	NC_000003.12:g.129605367C>T	gnomAD
rs1252282879	p.Gly425Val	missense variant	-	NC_000003.12:g.129605366C>A	gnomAD
rs1447627549	p.Thr426Met	missense variant	-	NC_000003.12:g.129605363G>A	gnomAD
rs1286676564	p.Gly427Ter	stop gained	-	NC_000003.12:g.129605361C>A	gnomAD
rs747121264	p.Gly427Val	missense variant	-	NC_000003.12:g.129605360C>A	ExAC,gnomAD
rs1304640635	p.Pro428Ser	missense variant	-	NC_000003.12:g.129605358G>A	gnomAD
rs777938845	p.Pro428Leu	missense variant	-	NC_000003.12:g.129605357G>A	ExAC,gnomAD
rs777938845	p.Pro428Gln	missense variant	-	NC_000003.12:g.129605357G>T	ExAC,gnomAD
rs1274740904	p.Ala429Thr	missense variant	-	NC_000003.12:g.129605355C>T	gnomAD
rs1274740904	p.Ala429Ser	missense variant	-	NC_000003.12:g.129605355C>A	gnomAD
rs1346477284	p.Cys430Phe	missense variant	-	NC_000003.12:g.129605351C>A	gnomAD
rs1430888617	p.Cys430Arg	missense variant	-	NC_000003.12:g.129605352A>G	gnomAD
rs779207699	p.Glu431Lys	missense variant	-	NC_000003.12:g.129605349C>T	ExAC,gnomAD
rs779207699	p.Glu431Ter	stop gained	-	NC_000003.12:g.129605349C>A	ExAC,gnomAD
rs780631605	p.Arg432His	missense variant	-	NC_000003.12:g.129605345C>T	ExAC,gnomAD
rs755370595	p.Arg432Ser	missense variant	-	NC_000003.12:g.129605346G>T	ExAC,gnomAD
rs780631605	p.Arg432Leu	missense variant	-	NC_000003.12:g.129605345C>A	ExAC,gnomAD
rs751158324	p.Lys433Met	missense variant	-	NC_000003.12:g.129605342T>A	ExAC
rs756790145	p.Lys433Glu	missense variant	-	NC_000003.12:g.129605343T>C	ExAC
rs1424429715	p.Leu434Ile	missense variant	-	NC_000003.12:g.129605340G>T	gnomAD
rs1187017879	p.Asn435Tyr	missense variant	-	NC_000003.12:g.129605337T>A	gnomAD
rs1476325546	p.Asn435Ser	missense variant	-	NC_000003.12:g.129605336T>C	gnomAD
rs763820694	p.Ile436Leu	missense variant	-	NC_000003.12:g.129605334T>G	ExAC,TOPMed,gnomAD
rs1488117943	p.Gln437His	missense variant	-	NC_000003.12:g.129605329C>A	gnomAD
rs1320811011	p.Leu438Phe	missense variant	-	NC_000003.12:g.129589527G>A	gnomAD
rs1193983205	p.Ala447Val	missense variant	-	NC_000003.12:g.129589499G>A	TOPMed
rs1370931234	p.His449Tyr	missense variant	-	NC_000003.12:g.129589494G>A	gnomAD
rs1489595040	p.His452Tyr	missense variant	-	NC_000003.12:g.129589485G>A	TOPMed,gnomAD
rs1441551728	p.Pro453Gln	missense variant	-	NC_000003.12:g.129589481G>T	TOPMed,gnomAD
rs1441551728	p.Pro453Leu	missense variant	-	NC_000003.12:g.129589481G>A	TOPMed,gnomAD
COSM3749815	p.Ser455Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129589476A>G	NCI-TCGA Cosmic
rs1456453318	p.Ile456Thr	missense variant	-	NC_000003.12:g.129589472A>G	gnomAD
rs1160074508	p.Gln458Ter	stop gained	-	NC_000003.12:g.129589467G>A	gnomAD
rs1454405971	p.Gln458Arg	missense variant	-	NC_000003.12:g.129589466T>C	TOPMed
rs573002407	p.Pro459Ser	missense variant	-	NC_000003.12:g.129589464G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Leu460Met	missense variant	-	NC_000003.12:g.129589461G>T	NCI-TCGA
rs1255434996	p.Ala462Val	missense variant	-	NC_000003.12:g.129589454G>A	gnomAD
rs146817457	p.Thr463Met	missense variant	-	NC_000003.12:g.129589451G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146817457	p.Thr463Lys	missense variant	-	NC_000003.12:g.129589451G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143746898	p.Val465Met	missense variant	-	NC_000003.12:g.129589446C>T	ESP,ExAC,TOPMed,gnomAD
rs749594802	p.Phe466Val	missense variant	-	NC_000003.12:g.129589443A>C	ExAC,gnomAD
rs140020337	p.Arg467His	missense variant	-	NC_000003.12:g.129589439C>T	ESP,ExAC,TOPMed,gnomAD
rs371227931	p.Arg467Cys	missense variant	-	NC_000003.12:g.129589440G>A	ExAC,TOPMed,gnomAD
rs781768858	p.Ala468Thr	missense variant	-	NC_000003.12:g.129589437C>T	ExAC,gnomAD
rs757936121	p.Pro469Ser	missense variant	-	NC_000003.12:g.129589434G>A	ExAC,gnomAD
rs146072632	p.Pro469Leu	missense variant	-	NC_000003.12:g.129589433G>A	ESP,ExAC,TOPMed,gnomAD
rs1158485889	p.Leu471Phe	missense variant	-	NC_000003.12:g.129589428G>A	gnomAD
rs750310939	p.Val474Met	missense variant	-	NC_000003.12:g.129589419C>T	ExAC,TOPMed,gnomAD
rs866945757	p.Ala475Val	missense variant	-	NC_000003.12:g.129589415G>A	gnomAD
rs1261823183	p.Val476Met	missense variant	-	NC_000003.12:g.129589413C>T	gnomAD
rs1187704730	p.Ser478Gly	missense variant	-	NC_000003.12:g.129589407T>C	gnomAD
rs376523880	p.Val479Ile	missense variant	-	NC_000003.12:g.129589404C>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asn480GlnPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.129589401_129589402insGACGCTG	NCI-TCGA
rs1184028552	p.Thr483Ala	missense variant	-	NC_000003.12:g.129589392T>C	TOPMed
rs373082800	p.Ala484Glu	missense variant	-	NC_000003.12:g.129589388G>T	ESP,ExAC,TOPMed,gnomAD
rs373082800	p.Ala484Val	missense variant	-	NC_000003.12:g.129589388G>A	ESP,ExAC,TOPMed,gnomAD
COSM4113386	p.Ala484Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129589389C>A	NCI-TCGA Cosmic
rs141992927	p.Val485Ile	missense variant	-	NC_000003.12:g.129589386C>T	ESP,ExAC,TOPMed,gnomAD
rs141992927	p.Val485Leu	missense variant	-	NC_000003.12:g.129589386C>G	ESP,ExAC,TOPMed,gnomAD
rs777240664	p.Phe486Leu	missense variant	-	NC_000003.12:g.129589383A>G	ExAC,gnomAD
rs1373548451	p.Gly488Asp	missense variant	-	NC_000003.12:g.129589376C>T	TOPMed
rs771612189	p.Thr489Met	missense variant	-	NC_000003.12:g.129589373G>A	ExAC,gnomAD
rs771612189	p.Thr489Lys	missense variant	-	NC_000003.12:g.129589373G>T	ExAC,gnomAD
COSM1038131	p.Val490Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129589371C>T	NCI-TCGA Cosmic
rs1342077112	p.Asn491His	missense variant	-	NC_000003.12:g.129589368T>G	TOPMed,gnomAD
rs2285373	p.Asn491Lys	missense variant	-	NC_000003.12:g.129589366G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754446744	p.Gly492Arg	missense variant	-	NC_000003.12:g.129589365C>T	ExAC,TOPMed,gnomAD
rs1315807282	p.Arg493Ser	missense variant	-	NC_000003.12:g.129589360C>A	TOPMed
rs770727652	p.Asn500Lys	missense variant	-	NC_000003.12:g.129586708G>T	TOPMed,gnomAD
rs1381942476	p.Glu501Asp	missense variant	-	NC_000003.12:g.129586705C>G	gnomAD
rs72990040	p.Glu501Lys	missense variant	-	NC_000003.12:g.129586707C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202165660	p.Glu501Gly	missense variant	-	NC_000003.12:g.129586706T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1176481144	p.Ser502Asn	missense variant	-	NC_000003.12:g.129586703C>T	gnomAD
rs1439070141	p.Met503Val	missense variant	-	NC_000003.12:g.129586701T>C	gnomAD
rs182064884	p.Gln504Arg	missense variant	-	NC_000003.12:g.129586697T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1253542088	p.Gln504Ter	stop gained	-	NC_000003.12:g.129586698G>A	gnomAD
rs80349132	p.Val505Leu	missense variant	-	NC_000003.12:g.129586695C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs80349132	p.Val505Met	missense variant	-	NC_000003.12:g.129586695C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val505Ala	missense variant	-	NC_000003.12:g.129586694A>G	NCI-TCGA
rs777597461	p.Val506Leu	missense variant	-	NC_000003.12:g.129586692C>A	ExAC,TOPMed,gnomAD
rs777597461	p.Val506Met	missense variant	-	NC_000003.12:g.129586692C>T	ExAC,TOPMed,gnomAD
rs1209502221	p.Ser507Asn	missense variant	-	NC_000003.12:g.129586688C>T	gnomAD
rs542362609	p.Arg509Trp	missense variant	-	NC_000003.12:g.129586683G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765540434	p.Arg509Gln	missense variant	-	NC_000003.12:g.129586682C>T	ExAC,gnomAD
rs765540434	p.Arg509Gln	missense variant	-	NC_000003.12:g.129586682C>T	NCI-TCGA
rs190778347	p.Val510Met	missense variant	-	NC_000003.12:g.129586680C>T	1000Genomes,ExAC,gnomAD
rs190778347	p.Val510Leu	missense variant	-	NC_000003.12:g.129586680C>A	1000Genomes,ExAC,gnomAD
rs1347639992	p.Val511Ala	missense variant	-	NC_000003.12:g.129586676A>G	gnomAD
rs1439157771	p.Val511Met	missense variant	-	NC_000003.12:g.129586677C>T	gnomAD
rs1362049460	p.Val513Leu	missense variant	-	NC_000003.12:g.129586671C>G	TOPMed,gnomAD
rs1362049460	p.Val513Met	missense variant	-	NC_000003.12:g.129586671C>T	TOPMed,gnomAD
rs1418833570	p.Ala514Thr	missense variant	-	NC_000003.12:g.129586668C>T	gnomAD
rs372068141	p.Tyr515Asn	missense variant	-	NC_000003.12:g.129586665A>T	ESP,ExAC,TOPMed,gnomAD
rs137960066	p.Tyr515Cys	missense variant	-	NC_000003.12:g.129586664T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372068141	p.Tyr515His	missense variant	-	NC_000003.12:g.129586665A>G	ESP,ExAC,TOPMed,gnomAD
rs137960066	p.Tyr515Ser	missense variant	-	NC_000003.12:g.129586664T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1476977579	p.Glu517Lys	missense variant	-	NC_000003.12:g.129586659C>T	gnomAD
rs1245061468	p.Glu517Asp	missense variant	-	NC_000003.12:g.129586657C>A	TOPMed,gnomAD
rs762426238	p.Pro518Thr	missense variant	-	NC_000003.12:g.129586656G>T	ExAC,TOPMed,gnomAD
rs146955703	p.Val519Met	missense variant	-	NC_000003.12:g.129586653C>T	ESP,ExAC,TOPMed,gnomAD
rs745457679	p.His521Leu	missense variant	-	NC_000003.12:g.129586646T>A	ExAC,gnomAD
rs1214965133	p.His521Asn	missense variant	-	NC_000003.12:g.129586647G>T	gnomAD
rs1221434798	p.Val522Ala	missense variant	-	NC_000003.12:g.129586643A>G	gnomAD
rs780721406	p.Met523Ile	missense variant	-	NC_000003.12:g.129586639C>T	ExAC,gnomAD
rs1273789542	p.Phe525Leu	missense variant	-	NC_000003.12:g.129586635A>G	TOPMed,gnomAD
rs142772519	p.Asp526Glu	missense variant	-	NC_000003.12:g.129586630G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1295938364	p.Pro527Ser	missense variant	-	NC_000003.12:g.129586629G>A	gnomAD
COSM294708	p.Ala528Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129586626C>T	NCI-TCGA Cosmic
rs1177886052	p.Asp529Asn	missense variant	-	NC_000003.12:g.129586623C>T	gnomAD
rs1412703838	p.Asp529Glu	missense variant	-	NC_000003.12:g.129586621G>T	gnomAD
rs2301572	p.Gly531Ser	missense variant	-	NC_000003.12:g.129586617C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs117182497	p.Gly531Val	missense variant	-	NC_000003.12:g.129586616C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752817921	p.Tyr532Phe	missense variant	-	NC_000003.12:g.129586613T>A	ExAC
rs758319018	p.Tyr532Asp	missense variant	-	NC_000003.12:g.129586614A>C	ExAC,gnomAD
rs201180612	p.Thr537Met	missense variant	-	NC_000003.12:g.129586598G>A	ESP,ExAC,TOPMed,gnomAD
rs1311024180	p.Ser538Phe	missense variant	-	NC_000003.12:g.129586595G>A	TOPMed,gnomAD
rs1311024180	p.Ser538Tyr	missense variant	-	NC_000003.12:g.129586595G>T	TOPMed,gnomAD
rs1278497344	p.His539Tyr	missense variant	-	NC_000003.12:g.129586593G>A	gnomAD
rs761069146	p.Gln540His	missense variant	-	NC_000003.12:g.129586588C>G	ExAC,gnomAD
rs1320676066	p.Ala542Ser	missense variant	-	NC_000003.12:g.129586269C>A	gnomAD
rs376235870	p.Ala542Val	missense variant	-	NC_000003.12:g.129586268G>A	ESP,ExAC,TOPMed,gnomAD
rs148674866	p.Arg543Ser	missense variant	-	NC_000003.12:g.129586264C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs750797031	p.Lys545Asn	missense variant	-	NC_000003.12:g.129586258C>A	ExAC,TOPMed,gnomAD
rs767708810	p.Val546Phe	missense variant	-	NC_000003.12:g.129586257C>A	ExAC,gnomAD
rs767708810	p.Val546Ile	missense variant	-	NC_000003.12:g.129586257C>T	ExAC,gnomAD
rs764619772	p.Ala547Thr	missense variant	-	NC_000003.12:g.129586254C>T	ExAC,TOPMed,gnomAD
rs559891372	p.Ala548Ser	missense variant	-	NC_000003.12:g.129586251C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs559891372	p.Ala548Pro	missense variant	-	NC_000003.12:g.129586251C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs766043958	p.Ala548Val	missense variant	-	NC_000003.12:g.129586250G>A	ExAC,TOPMed,gnomAD
rs559891372	p.Ala548Thr	missense variant	-	NC_000003.12:g.129586251C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs772928504	p.Asn550Ser	missense variant	-	NC_000003.12:g.129586244T>C	ExAC,TOPMed,gnomAD
rs929162804	p.Val551Met	missense variant	-	NC_000003.12:g.129586242C>T	NCI-TCGA
rs929162804	p.Val551Met	missense variant	-	NC_000003.12:g.129586242C>T	gnomAD
rs1188932710	p.Ser553Phe	missense variant	-	NC_000003.12:g.129586235G>A	gnomAD
rs979603878	p.Thr554Ile	missense variant	-	NC_000003.12:g.129586232G>A	TOPMed,gnomAD
rs774399373	p.Cys555Tyr	missense variant	-	NC_000003.12:g.129586229C>T	ExAC,gnomAD
rs747983530	p.Cys555Arg	missense variant	-	NC_000003.12:g.129586230A>G	ExAC,gnomAD
rs1284994292	p.Asp557Glu	missense variant	-	NC_000003.12:g.129586222G>T	gnomAD
rs1409538149	p.Asp557Asn	missense variant	-	NC_000003.12:g.129586224C>T	TOPMed
rs749371540	p.Val559Met	missense variant	-	NC_000003.12:g.129586218C>T	ExAC,TOPMed,gnomAD
COSM6163242	p.Gly560Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129586215C>A	NCI-TCGA Cosmic
rs780063050	p.Gly560Ser	missense variant	-	NC_000003.12:g.129586215C>T	ExAC,TOPMed,gnomAD
rs1028050337	p.Ala561Val	missense variant	-	NC_000003.12:g.129586211G>A	TOPMed,gnomAD
rs746020904	p.Ala562Val	missense variant	-	NC_000003.12:g.129586208G>A	ExAC,TOPMed,gnomAD
rs373023998	p.Ala564Thr	missense variant	-	NC_000003.12:g.129586203C>T	ESP,ExAC,gnomAD
rs778233591	p.Tyr565Ser	missense variant	-	NC_000003.12:g.129586199T>G	ExAC,gnomAD
rs1379872612	p.Gly567Ser	missense variant	-	NC_000003.12:g.129586194C>T	gnomAD
rs753250110	p.Cys569Gly	missense variant	-	NC_000003.12:g.129586188A>C	ExAC,gnomAD
rs988264137	p.Ala570Ser	missense variant	-	NC_000003.12:g.129586185C>A	gnomAD
rs1318387282	p.Leu571Pro	missense variant	-	NC_000003.12:g.129586181A>G	TOPMed
rs765746868	p.Glu572Gly	missense variant	-	NC_000003.12:g.129586178T>C	ExAC,gnomAD
rs765746868	p.Glu572Gly	missense variant	-	NC_000003.12:g.129586178T>C	NCI-TCGA,NCI-TCGA Cosmic
rs151013320	p.Thr573Met	missense variant	-	NC_000003.12:g.129586175G>A	ESP,ExAC,TOPMed,gnomAD
rs151013320	p.Thr573Met	missense variant	-	NC_000003.12:g.129586175G>A	NCI-TCGA
rs143527204	p.Arg574Trp	missense variant	-	NC_000003.12:g.129586173G>A	ESP,ExAC,TOPMed,gnomAD
rs761679091	p.Arg574Gln	missense variant	-	NC_000003.12:g.129586172C>T	ExAC,TOPMed,gnomAD
rs1395389018	p.Cys575Ter	stop gained	-	NC_000003.12:g.129586078G>T	gnomAD
rs896480812	p.Gln579Ter	stop gained	-	NC_000003.12:g.129586068G>A	TOPMed
rs762831084	p.Gln579Arg	missense variant	-	NC_000003.12:g.129586067T>C	ExAC,gnomAD
rs889049054	p.Asp580Asn	missense variant	-	NC_000003.12:g.129586065C>T	TOPMed,gnomAD
rs775251447	p.Cys581Gly	missense variant	-	NC_000003.12:g.129586062A>C	ExAC
rs769810911	p.Ser584Tyr	missense variant	-	NC_000003.12:g.129586052G>T	ExAC,gnomAD
rs1440286933	p.Gln587Arg	missense variant	-	NC_000003.12:g.129586043T>C	gnomAD
NCI-TCGA novel	p.His588Tyr	missense variant	-	NC_000003.12:g.129586041G>A	NCI-TCGA
COSM3587263	p.Thr591Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129586031G>A	NCI-TCGA Cosmic
rs1272303581	p.Ser592Thr	missense variant	-	NC_000003.12:g.129586028C>G	TOPMed
COSM1038130	p.Ser594Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129586023T>C	NCI-TCGA Cosmic
rs747172721	p.Glu595Lys	missense variant	-	NC_000003.12:g.129586020C>T	NCI-TCGA,NCI-TCGA Cosmic
rs747172721	p.Glu595Lys	missense variant	-	NC_000003.12:g.129586020C>T	ExAC,gnomAD
rs200419985	p.Gly596Val	missense variant	-	NC_000003.12:g.129586016C>A	ESP,ExAC,TOPMed,gnomAD
rs200419985	p.Gly596Asp	missense variant	-	NC_000003.12:g.129586016C>T	ESP,ExAC,TOPMed,gnomAD
rs200419985	p.Gly596Ala	missense variant	-	NC_000003.12:g.129586016C>G	ESP,ExAC,TOPMed,gnomAD
rs1234439330	p.Pro597Leu	missense variant	-	NC_000003.12:g.129586013G>A	TOPMed
rs148875932	p.Ser598Thr	missense variant	-	NC_000003.12:g.129586010C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser598Asn	missense variant	-	NC_000003.12:g.129586010C>T	NCI-TCGA
rs538120639	p.Arg599Ser	missense variant	-	NC_000003.12:g.129586008G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs538120639	p.Arg599Cys	missense variant	-	NC_000003.12:g.129586008G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs199829526	p.Arg599His	missense variant	-	NC_000003.12:g.129586007C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs780780156	p.Pro601Leu	missense variant	-	NC_000003.12:g.129586001G>A	ExAC,TOPMed,gnomAD
rs780780156	p.Pro601Arg	missense variant	-	NC_000003.12:g.129586001G>C	ExAC,TOPMed,gnomAD
rs756842970	p.Met603Val	missense variant	-	NC_000003.12:g.129585996T>C	ExAC,gnomAD
rs1329929321	p.Thr604Ile	missense variant	-	NC_000003.12:g.129585992G>A	TOPMed
rs763838836	p.Val605Ile	missense variant	-	NC_000003.12:g.129585990C>T	ExAC,TOPMed,gnomAD
rs1420070974	p.Pro607Ser	missense variant	-	NC_000003.12:g.129585984G>A	TOPMed,gnomAD
rs1383075698	p.Pro607Arg	missense variant	-	NC_000003.12:g.129585983G>C	TOPMed
NCI-TCGA novel	p.Ser608Phe	missense variant	-	NC_000003.12:g.129585980G>A	NCI-TCGA
rs146738111	p.Glu609Lys	missense variant	-	NC_000003.12:g.129585978C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1338638065	p.Glu609Gly	missense variant	-	NC_000003.12:g.129585977T>C	TOPMed
rs1215126955	p.Ile610Thr	missense variant	-	NC_000003.12:g.129585974A>G	TOPMed
rs373770425	p.Asp611Asn	missense variant	-	NC_000003.12:g.129585972C>T	ESP,ExAC,TOPMed,gnomAD
rs766394256	p.Val612Met	missense variant	-	NC_000003.12:g.129585969C>T	ExAC,gnomAD
rs760772408	p.Arg613Cys	missense variant	-	NC_000003.12:g.129585966G>A	ExAC,TOPMed,gnomAD
rs773387450	p.Arg613His	missense variant	-	NC_000003.12:g.129585965C>T	ExAC,gnomAD
rs760772408	p.Arg613Ser	missense variant	-	NC_000003.12:g.129585966G>T	ExAC,TOPMed,gnomAD
rs773387450	p.Arg613His	missense variant	-	NC_000003.12:g.129585965C>T	NCI-TCGA,NCI-TCGA Cosmic
rs748447022	p.Glu615Lys	missense variant	-	NC_000003.12:g.129585960C>T	ExAC,gnomAD
rs2285372	p.Pro617Ser	missense variant	-	NC_000003.12:g.129585954G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2285372	p.Pro617Ser	missense variant	-	NC_000003.12:g.129585954G>A	UniProt,dbSNP
VAR_056723	p.Pro617Ser	missense variant	-	NC_000003.12:g.129585954G>A	UniProt
NCI-TCGA novel	p.Pro617Leu	missense variant	-	NC_000003.12:g.129585953G>A	NCI-TCGA
rs149987116	p.Ser624Leu	missense variant	-	NC_000003.12:g.129584543G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1460335610	p.Gly625Ser	missense variant	-	NC_000003.12:g.129584541C>T	gnomAD
rs1198690706	p.Ser626Ile	missense variant	-	NC_000003.12:g.129584537C>A	gnomAD
rs1275897972	p.Leu627Pro	missense variant	-	NC_000003.12:g.129584534A>G	gnomAD
rs754732315	p.Leu627Val	missense variant	-	NC_000003.12:g.129584535G>C	ExAC,gnomAD
rs1447541355	p.Ser631Arg	missense variant	-	NC_000003.12:g.129584521A>C	TOPMed
rs1379625882	p.Ser631Gly	missense variant	-	NC_000003.12:g.129584523T>C	TOPMed,gnomAD
rs779950974	p.Gly632Val	missense variant	-	NC_000003.12:g.129584519C>A	ExAC,gnomAD
rs779950974	p.Gly632Ala	missense variant	-	NC_000003.12:g.129584519C>G	ExAC,gnomAD
rs1311618440	p.Met633Ile	missense variant	-	NC_000003.12:g.129584515C>T	TOPMed
rs1012005843	p.Asp638Glu	missense variant	-	NC_000003.12:g.129584500G>C	TOPMed,gnomAD
rs896916598	p.Tyr639Cys	missense variant	-	NC_000003.12:g.129584498T>C	TOPMed
rs139388919	p.Arg644His	missense variant	-	NC_000003.12:g.129584483C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs139388919	p.Arg644Leu	missense variant	-	NC_000003.12:g.129584483C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs767575252	p.Arg644Cys	missense variant	-	NC_000003.12:g.129584484G>A	ExAC,gnomAD
rs1415009907	p.Ala647Ser	missense variant	-	NC_000003.12:g.129584475C>A	gnomAD
rs199925518	p.Arg648Trp	missense variant	-	NC_000003.12:g.129584472G>A	ExAC,TOPMed,gnomAD
rs764450672	p.Arg648Pro	missense variant	-	NC_000003.12:g.129584471C>G	ExAC,TOPMed,gnomAD
rs764450672	p.Arg648Gln	missense variant	-	NC_000003.12:g.129584471C>T	ExAC,TOPMed,gnomAD
rs199925518	p.Arg648Gly	missense variant	-	NC_000003.12:g.129584472G>C	ExAC,TOPMed,gnomAD
rs763389224	p.Val649Gly	missense variant	-	NC_000003.12:g.129584468A>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro652Ser	missense variant	-	NC_000003.12:g.129584460G>A	NCI-TCGA
rs1458724054	p.Ala653Val	missense variant	-	NC_000003.12:g.129584456G>A	gnomAD
rs770422685	p.His656Tyr	missense variant	-	NC_000003.12:g.129584448G>A	ExAC,gnomAD
rs1321894484	p.Ile658Val	missense variant	-	NC_000003.12:g.129584442T>C	gnomAD
NCI-TCGA novel	p.Tyr660Ter	stop gained	-	NC_000003.12:g.129584434G>T	NCI-TCGA
rs902175463	p.Cys661Phe	missense variant	-	NC_000003.12:g.129584432C>A	TOPMed
NCI-TCGA novel	p.Cys661Arg	missense variant	-	NC_000003.12:g.129584433A>G	NCI-TCGA
rs1167127841	p.Asn662Tyr	missense variant	-	NC_000003.12:g.129584430T>A	TOPMed
rs777021506	p.Leu663Phe	missense variant	-	NC_000003.12:g.129584427G>A	ExAC,gnomAD
rs771566843	p.Pro665Leu	missense variant	-	NC_000003.12:g.129584420G>A	ExAC,TOPMed,gnomAD
rs771566843	p.Pro665Arg	missense variant	-	NC_000003.12:g.129584420G>C	ExAC,TOPMed,gnomAD
rs561859042	p.Arg666Lys	missense variant	-	NC_000003.12:g.129584417C>T	1000Genomes,ExAC,gnomAD
rs763380125	p.Gln668Arg	missense variant	-	NC_000003.12:g.129584411T>C	TOPMed
rs768351629	p.Pro670Leu	missense variant	-	NC_000003.12:g.129584405G>A	ExAC,TOPMed,gnomAD
rs779756669	p.Pro671His	missense variant	-	NC_000003.12:g.129584402G>T	ExAC,gnomAD
rs1167434958	p.Phe672Ser	missense variant	-	NC_000003.12:g.129584399A>G	gnomAD
rs915081386	p.Phe672Leu	missense variant	-	NC_000003.12:g.129584400A>G	TOPMed,gnomAD
rs1423116680	p.Pro673Ser	missense variant	-	NC_000003.12:g.129584397G>A	gnomAD
rs1384937172	p.Pro673Arg	missense variant	-	NC_000003.12:g.129584396G>C	gnomAD
rs1039247005	p.Pro674Ala	missense variant	-	NC_000003.12:g.129584394G>C	TOPMed,gnomAD
rs201334507	p.Pro674His	missense variant	-	NC_000003.12:g.129584393G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1039247005	p.Pro674Thr	missense variant	-	NC_000003.12:g.129584394G>T	TOPMed,gnomAD
rs201334507	p.Pro674Arg	missense variant	-	NC_000003.12:g.129584393G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757329564	p.Asn675Ser	missense variant	-	NC_000003.12:g.129584390T>C	ExAC,TOPMed,gnomAD
rs757329564	p.Asn675Ile	missense variant	-	NC_000003.12:g.129584390T>A	ExAC,TOPMed,gnomAD
COSM4716051	p.Asn675ThrPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129584392G>-	NCI-TCGA Cosmic
rs751642506	p.Asn675Lys	missense variant	-	NC_000003.12:g.129584389G>C	ExAC,TOPMed,gnomAD
rs1248086143	p.Gln676Glu	missense variant	-	NC_000003.12:g.129584388G>C	TOPMed,gnomAD
rs747109541	p.His678Asp	missense variant	-	NC_000003.12:g.129584231G>C	ExAC,gnomAD
rs772777477	p.Val679Met	missense variant	-	NC_000003.12:g.129584228C>T	ExAC,TOPMed,gnomAD
rs752922453	p.Val679Gly	missense variant	-	NC_000003.12:g.129584227A>C	ExAC,gnomAD
NCI-TCGA novel	p.Met683Ile	missense variant	-	NC_000003.12:g.129584214C>T	NCI-TCGA
NCI-TCGA novel	p.Ser684Cys	missense variant	-	NC_000003.12:g.129584212G>C	NCI-TCGA
rs1423893961	p.Val687Phe	missense variant	-	NC_000003.12:g.129584204C>A	gnomAD
rs375414098	p.Asn688His	missense variant	-	NC_000003.12:g.129584201T>G	ESP,ExAC,TOPMed,gnomAD
rs375414098	p.Asn688Asp	missense variant	-	NC_000003.12:g.129584201T>C	ESP,ExAC,TOPMed,gnomAD
rs371028104	p.Gly689Arg	missense variant	-	NC_000003.12:g.129584198C>T	ESP,ExAC,TOPMed,gnomAD
rs754211315	p.Arg690Gln	missense variant	-	NC_000003.12:g.129584194C>T	ExAC,TOPMed,gnomAD
rs915985679	p.Arg690Trp	missense variant	-	NC_000003.12:g.129584195G>A	gnomAD
rs1265130692	p.Ile692Val	missense variant	-	NC_000003.12:g.129584189T>C	gnomAD
rs1323174632	p.Val693Ile	missense variant	-	NC_000003.12:g.129584186C>T	TOPMed,gnomAD
rs1279060683	p.Lys694Glu	missense variant	-	NC_000003.12:g.129584183T>C	gnomAD
rs773720362	p.Lys694Arg	missense variant	-	NC_000003.12:g.129584182T>C	ExAC,gnomAD
rs1436460399	p.Ile699Thr	missense variant	-	NC_000003.12:g.129584167A>G	TOPMed,gnomAD
rs769381156	p.Asp701Asn	missense variant	-	NC_000003.12:g.129584162C>T	ExAC,TOPMed,gnomAD
rs769381156	p.Asp701Tyr	missense variant	-	NC_000003.12:g.129584162C>A	ExAC,TOPMed,gnomAD
rs1172379332	p.Ser703Gly	missense variant	-	NC_000003.12:g.129584156T>C	gnomAD
rs770412397	p.Arg704Pro	missense variant	-	NC_000003.12:g.129584152C>G	TOPMed
rs374324498	p.Arg704Cys	missense variant	-	NC_000003.12:g.129584153G>A	ESP,ExAC,TOPMed,gnomAD
rs770412397	p.Arg704His	missense variant	-	NC_000003.12:g.129584152C>T	TOPMed
rs1372310566	p.Thr705Ala	missense variant	-	NC_000003.12:g.129584150T>C	gnomAD
rs770767418	p.Gln707Arg	missense variant	-	NC_000003.12:g.129584143T>C	ExAC,gnomAD
rs1241189885	p.Val708Ala	missense variant	-	NC_000003.12:g.129584140A>G	gnomAD
rs1258711744	p.His711Tyr	missense variant	-	NC_000003.12:g.129584132G>A	TOPMed,gnomAD
rs1258711744	p.His711Asp	missense variant	-	NC_000003.12:g.129584132G>C	TOPMed,gnomAD
rs1337676357	p.Thr712Arg	missense variant	-	NC_000003.12:g.129584128G>C	gnomAD
rs746887877	p.Ala713Val	missense variant	-	NC_000003.12:g.129584125G>A	ExAC,TOPMed,gnomAD
rs1245986370	p.Ala713Thr	missense variant	-	NC_000003.12:g.129584126C>T	gnomAD
rs762428555	p.Thr715Ile	missense variant	-	NC_000003.12:g.129583664G>A	ExAC,gnomAD
rs762428555	p.Thr715Ser	missense variant	-	NC_000003.12:g.129583664G>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr715Ala	missense variant	-	NC_000003.12:g.129583665T>C	NCI-TCGA
rs201008545	p.Ser719Leu	missense variant	-	NC_000003.12:g.129583652G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs759045961	p.Gln721Lys	missense variant	-	NC_000003.12:g.129583647G>T	ExAC,gnomAD
rs141945118	p.Gln721Arg	missense variant	-	NC_000003.12:g.129583646T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760583001	p.Cys727Ser	missense variant	-	NC_000003.12:g.129583629A>T	ExAC,gnomAD
rs1349329515	p.Gln730Arg	missense variant	-	NC_000003.12:g.129583619T>C	gnomAD
rs201928288	p.Asn736Ser	missense variant	-	NC_000003.12:g.129583601T>C	1000Genomes,ExAC,gnomAD
rs138740853	p.Arg739Gln	missense variant	-	NC_000003.12:g.129583592C>T	ESP,ExAC,TOPMed,gnomAD
rs778790008	p.Arg739Trp	missense variant	-	NC_000003.12:g.129583593G>A	ExAC,TOPMed,gnomAD
rs138740853	p.Arg739Leu	missense variant	-	NC_000003.12:g.129583592C>A	ESP,ExAC,TOPMed,gnomAD
rs758049237	p.Cys740Trp	missense variant	-	NC_000003.12:g.129583588G>C	ExAC,TOPMed,gnomAD
rs1316138217	p.Glu741Lys	missense variant	-	NC_000003.12:g.129583587C>T	gnomAD
rs780353863	p.Ala742Ser	missense variant	-	NC_000003.12:g.129583584C>A	ExAC,gnomAD
rs756439871	p.Ser743Leu	missense variant	-	NC_000003.12:g.129583580G>A	ExAC,gnomAD
rs1481564136	p.Pro744Arg	missense variant	-	NC_000003.12:g.129583577G>C	gnomAD
rs1379590639	p.Asn745Lys	missense variant	-	NC_000003.12:g.129583573G>C	TOPMed
rs200002798	p.Thr747Met	missense variant	-	NC_000003.12:g.129583568G>A	ESP,ExAC,TOPMed,gnomAD
rs1183301685	p.Pro749Thr	missense variant	-	NC_000003.12:g.129578430G>T	TOPMed
rs1459599041	p.Pro753Leu	missense variant	-	NC_000003.12:g.129578417G>A	gnomAD
rs143852651	p.Arg754Gln	missense variant	-	NC_000003.12:g.129578414C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774366289	p.Arg754Trp	missense variant	-	NC_000003.12:g.129578415G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg754GlyPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.129578415G>-	NCI-TCGA
rs112755880	p.Thr755Ala	missense variant	-	NC_000003.12:g.129578412T>C	ESP,ExAC,TOPMed,gnomAD
rs780117025	p.Leu757Pro	missense variant	-	NC_000003.12:g.129578405A>G	ExAC,gnomAD
rs911874930	p.Leu757Phe	missense variant	-	NC_000003.12:g.129578406G>A	TOPMed,gnomAD
rs1330795083	p.Ser758Leu	missense variant	-	NC_000003.12:g.129578402G>A	TOPMed
rs137955512	p.Pro759Ser	missense variant	-	NC_000003.12:g.129578400G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150373955	p.Pro759Leu	missense variant	-	NC_000003.12:g.129578399G>A	ESP,gnomAD
rs929606138	p.Leu760Met	missense variant	-	NC_000003.12:g.129578397G>T	TOPMed,gnomAD
rs757633392	p.Leu760Pro	missense variant	-	NC_000003.12:g.129578396A>G	ExAC,TOPMed
rs1356492425	p.Ala761Thr	missense variant	-	NC_000003.12:g.129578394C>T	gnomAD
rs1168853459	p.Pro762Arg	missense variant	-	NC_000003.12:g.129578390G>C	gnomAD
rs1362474229	p.Val763Met	missense variant	-	NC_000003.12:g.129578388C>T	TOPMed,gnomAD
rs778377914	p.Pro764Ser	missense variant	-	NC_000003.12:g.129578385G>A	ExAC,gnomAD
rs754418176	p.Thr765Met	missense variant	-	NC_000003.12:g.129578381G>A	ExAC,gnomAD
rs975702851	p.Ser768Phe	missense variant	-	NC_000003.12:g.129578372G>A	TOPMed,gnomAD
rs750111259	p.Gln769Arg	missense variant	-	NC_000003.12:g.129578369T>C	ExAC,gnomAD
rs1275216860	p.Ile771Met	missense variant	-	NC_000003.12:g.129578362G>C	TOPMed
rs909641134	p.Val773Leu	missense variant	-	NC_000003.12:g.129578358C>A	TOPMed,gnomAD
rs761730330	p.Pro774Leu	missense variant	-	NC_000003.12:g.129578354G>A	ExAC,gnomAD
rs1293617304	p.Pro774Ser	missense variant	-	NC_000003.12:g.129578355G>A	gnomAD
rs1314506477	p.Ala776Ser	missense variant	-	NC_000003.12:g.129578349C>A	gnomAD
rs1296676029	p.Ala779Thr	missense variant	-	NC_000003.12:g.129578340C>T	gnomAD
rs1441704049	p.Phe780Ile	missense variant	-	NC_000003.12:g.129578337A>T	gnomAD
rs764472065	p.Phe781Leu	missense variant	-	NC_000003.12:g.129578332G>C	ExAC,TOPMed,gnomAD
rs1265245359	p.Gly783Ser	missense variant	-	NC_000003.12:g.129575855C>T	gnomAD
rs371533848	p.Ala784Val	missense variant	-	NC_000003.12:g.129575851G>A	ESP,ExAC,gnomAD
rs772332815	p.Ala785Thr	missense variant	-	NC_000003.12:g.129575849C>T	ExAC,gnomAD
rs779593197	p.Glu787Asp	missense variant	-	NC_000003.12:g.129575841C>G	ExAC,gnomAD
rs1360451107	p.Glu787Lys	missense variant	-	NC_000003.12:g.129575843C>T	gnomAD
rs1278828227	p.Ser789Asn	missense variant	-	NC_000003.12:g.129575836C>T	TOPMed
rs1342133016	p.Phe790Ser	missense variant	-	NC_000003.12:g.129575833A>G	TOPMed
rs755653840	p.Glu794Lys	missense variant	-	NC_000003.12:g.129575822C>T	ExAC
rs1469882904	p.Ile795Thr	missense variant	-	NC_000003.12:g.129575818A>G	gnomAD
rs372055757	p.Phe796Leu	missense variant	-	NC_000003.12:g.129575814G>C	ESP,ExAC,TOPMed,gnomAD
rs144798332	p.Glu797Lys	missense variant	-	NC_000003.12:g.129575813C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1311776782	p.Trp800Cys	missense variant	-	NC_000003.12:g.129575802C>G	TOPMed
rs77635334	p.Val801Gly	missense variant	-	NC_000003.12:g.129575800A>C	ExAC,gnomAD
rs77635334	p.Val801Ala	missense variant	-	NC_000003.12:g.129575800A>G	ExAC,gnomAD
rs1282538474	p.Glu803Asp	missense variant	-	NC_000003.12:g.129575793C>G	TOPMed
rs1172228312	p.Ser804Ala	missense variant	-	NC_000003.12:g.129575792A>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser804CysPheSerTerUnk	frameshift	-	NC_000003.12:g.129575790_129575791AG>-	NCI-TCGA
rs758151471	p.Val806Ala	missense variant	-	NC_000003.12:g.129575785A>G	ExAC,gnomAD
rs200217905	p.Arg807Cys	missense variant	-	NC_000003.12:g.129575783G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765202904	p.Arg807His	missense variant	-	NC_000003.12:g.129575782C>T	ExAC,TOPMed,gnomAD
rs1461828787	p.Asp809Glu	missense variant	-	NC_000003.12:g.129575775G>C	TOPMed,gnomAD
rs1424950896	p.Val811Ala	missense variant	-	NC_000003.12:g.129575770A>G	TOPMed
rs951729630	p.Val811Met	missense variant	-	NC_000003.12:g.129575771C>T	TOPMed
rs1335256564	p.Thr815Met	missense variant	-	NC_000003.12:g.129575555G>A	TOPMed,gnomAD
rs141279701	p.Arg817Gln	missense variant	-	NC_000003.12:g.129575549C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200619991	p.Arg817Gly	missense variant	-	NC_000003.12:g.129575550G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200619991	p.Arg817Trp	missense variant	-	NC_000003.12:g.129575550G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1363633176	p.Ser819Asn	missense variant	-	NC_000003.12:g.129575543C>T	gnomAD
rs1161594160	p.Ser819Arg	missense variant	-	NC_000003.12:g.129575542G>T	gnomAD
rs763611949	p.Gln820Ter	stop gained	-	NC_000003.12:g.129575541G>A	ExAC,gnomAD
rs763611949	p.Gln820Glu	missense variant	-	NC_000003.12:g.129575541G>C	ExAC,gnomAD
rs142747290	p.Pro823Leu	missense variant	-	NC_000003.12:g.129575531G>A	ESP,TOPMed,gnomAD
rs770513748	p.Pro823Thr	missense variant	-	NC_000003.12:g.129575532G>T	ExAC,TOPMed,gnomAD
rs1223688267	p.Leu824Phe	missense variant	-	NC_000003.12:g.129575529G>A	gnomAD
rs1209699651	p.Leu828Ile	missense variant	-	NC_000003.12:g.129575517G>T	TOPMed,gnomAD
rs1280735014	p.Lys829Arg	missense variant	-	NC_000003.12:g.129575513T>C	gnomAD
rs1350799378	p.Lys829Glu	missense variant	-	NC_000003.12:g.129575514T>C	TOPMed,gnomAD
rs771563847	p.Gly830Val	missense variant	-	NC_000003.12:g.129575510C>A	ExAC,gnomAD
rs747937468	p.Arg831Gln	missense variant	-	NC_000003.12:g.129575507C>T	ExAC,TOPMed,gnomAD
rs199510990	p.Arg831Trp	missense variant	-	NC_000003.12:g.129575508G>A	1000Genomes,gnomAD
rs1406529464	p.Pro832Gln	missense variant	-	NC_000003.12:g.129575504G>T	gnomAD
rs1163096079	p.Ala833Ser	missense variant	-	NC_000003.12:g.129575502C>A	gnomAD
rs202243684	p.Arg834Gln	missense variant	-	NC_000003.12:g.129575498C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1322815391	p.Arg834Gly	missense variant	-	NC_000003.12:g.129575499G>C	gnomAD
rs1385825131	p.Phe835Ile	missense variant	-	NC_000003.12:g.129575496A>T	gnomAD
rs754748712	p.Leu836Met	missense variant	-	NC_000003.12:g.129575493G>T	ExAC,gnomAD
rs1420841498	p.Asp837Glu	missense variant	-	NC_000003.12:g.129575488G>T	TOPMed,gnomAD
rs1420841498	p.Asp837Glu	missense variant	-	NC_000003.12:g.129575488G>C	TOPMed,gnomAD
rs1411496447	p.Asp837His	missense variant	-	NC_000003.12:g.129575490C>G	gnomAD
rs1267160264	p.Pro839Arg	missense variant	-	NC_000003.12:g.129575483G>C	gnomAD
rs753816972	p.Pro839Ser	missense variant	-	NC_000003.12:g.129575484G>A	ExAC,gnomAD
rs1198801529	p.Glu840Lys	missense variant	-	NC_000003.12:g.129575481C>T	TOPMed,gnomAD
rs779817895	p.Pro841Ala	missense variant	-	NC_000003.12:g.129575478G>C	ExAC,TOPMed,gnomAD
rs1328121954	p.Thr843Ile	missense variant	-	NC_000003.12:g.129575471G>A	gnomAD
COSM1038125	p.Val844Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129575469C>A	NCI-TCGA Cosmic
rs921600171	p.Met845Thr	missense variant	-	NC_000003.12:g.129574487A>G	TOPMed,gnomAD
rs767057136	p.Val846Ile	missense variant	-	NC_000003.12:g.129574485C>T	ExAC,gnomAD
rs1315900204	p.Tyr847Cys	missense variant	-	NC_000003.12:g.129574481T>C	gnomAD
rs1248242367	p.Asn848Thr	missense variant	-	NC_000003.12:g.129574478T>G	gnomAD
rs199793511	p.Ala850Thr	missense variant	-	NC_000003.12:g.129574473C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs774016515	p.Met851Val	missense variant	-	NC_000003.12:g.129574470T>C	ExAC,TOPMed,gnomAD
rs768241173	p.Met851Thr	missense variant	-	NC_000003.12:g.129574469A>G	ExAC,gnomAD
rs1306528992	p.Gly852Ser	missense variant	-	NC_000003.12:g.129574467C>T	gnomAD
COSM6096282	p.Ser853Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129574462G>T	NCI-TCGA Cosmic
rs1174965883	p.Ser853Arg	missense variant	-	NC_000003.12:g.129574464T>G	gnomAD
rs1349923464	p.Pro854Arg	missense variant	-	NC_000003.12:g.129574460G>C	TOPMed
rs1349923464	p.Pro854Leu	missense variant	-	NC_000003.12:g.129574460G>A	TOPMed
rs775216644	p.Asp855Asn	missense variant	-	NC_000003.12:g.129574458C>T	ExAC
rs930085185	p.Gly861Ser	missense variant	-	NC_000003.12:g.129574440C>T	TOPMed
rs1366719066	p.Arg862Cys	missense variant	-	NC_000003.12:g.129574437G>A	TOPMed,gnomAD
rs745841532	p.Arg862His	missense variant	-	NC_000003.12:g.129574436C>T	ExAC,gnomAD
rs201339031	p.Glu863Lys	missense variant	-	NC_000003.12:g.129574434C>T	1000Genomes,ExAC,gnomAD
rs561056194	p.Asp864Asn	missense variant	-	NC_000003.12:g.129574431C>T	1000Genomes,ExAC,gnomAD
rs752956021	p.His867Tyr	missense variant	-	NC_000003.12:g.129574422G>A	ExAC,gnomAD
rs2255703	p.Met870Val	missense variant	-	NC_000003.12:g.129574413T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149847035	p.Met870Ile	missense variant	-	NC_000003.12:g.129574411C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754338011	p.Gly874Ser	missense variant	-	NC_000003.12:g.129574401C>T	ExAC,gnomAD
rs766826016	p.Gly874Val	missense variant	-	NC_000003.12:g.129574400C>A	ExAC,TOPMed,gnomAD
rs1289177304	p.Cys875Tyr	missense variant	-	NC_000003.12:g.129574397C>T	gnomAD
rs751006502	p.Arg876Ser	missense variant	-	NC_000003.12:g.129574395G>T	ExAC,TOPMed,gnomAD
rs554042254	p.Arg876His	missense variant	-	NC_000003.12:g.129574394C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs751006502	p.Arg876Cys	missense variant	-	NC_000003.12:g.129574395G>A	ExAC,TOPMed,gnomAD
rs141047735	p.Arg878Trp	missense variant	-	NC_000003.12:g.129574389G>A	ESP,ExAC,TOPMed,gnomAD
rs775185534	p.Arg878Gln	missense variant	-	NC_000003.12:g.129574388C>T	ExAC,TOPMed,gnomAD
rs769515971	p.Gly879Arg	missense variant	-	NC_000003.12:g.129574386C>T	ExAC,TOPMed,gnomAD
rs769515971	p.Gly879Trp	missense variant	-	NC_000003.12:g.129574386C>A	ExAC,TOPMed,gnomAD
rs1305527323	p.Gly879Glu	missense variant	-	NC_000003.12:g.129574385C>T	gnomAD
NCI-TCGA novel	p.Pro880LeuPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.129574384C>-	NCI-TCGA
rs1348846336	p.Pro880Leu	missense variant	-	NC_000003.12:g.129574382G>A	gnomAD
rs992398054	p.Leu881Pro	missense variant	-	NC_000003.12:g.129574379A>G	TOPMed
NCI-TCGA novel	p.Gln882Ter	stop gained	-	NC_000003.12:g.129574377G>A	NCI-TCGA
rs1159151983	p.Pro883Leu	missense variant	-	NC_000003.12:g.129574373G>A	gnomAD
rs770931553	p.Met884Leu	missense variant	-	NC_000003.12:g.129574371T>A	ExAC,TOPMed,gnomAD
rs1003519399	p.Met884Thr	missense variant	-	NC_000003.12:g.129574370A>G	TOPMed,gnomAD
rs770931553	p.Met884Val	missense variant	-	NC_000003.12:g.129574371T>C	ExAC,TOPMed,gnomAD
rs538923633	p.Met884Ile	missense variant	-	NC_000003.12:g.129574369C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs770931553	p.Met884Leu	missense variant	-	NC_000003.12:g.129574371T>G	ExAC,TOPMed,gnomAD
rs772173857	p.Ala885Val	missense variant	-	NC_000003.12:g.129574367G>A	ExAC,TOPMed,gnomAD
rs376756512	p.Ala885Pro	missense variant	-	NC_000003.12:g.129574368C>G	ESP,ExAC,gnomAD
rs1488103613	p.Gly886Ser	missense variant	-	NC_000003.12:g.129574365C>T	gnomAD
rs779159553	p.Thr887Pro	missense variant	-	NC_000003.12:g.129574362T>G	ExAC,TOPMed,gnomAD
rs1266480022	p.Pro889Ser	missense variant	-	NC_000003.12:g.129574356G>A	gnomAD
rs754176157	p.Ala890Thr	missense variant	-	NC_000003.12:g.129574353C>T	ExAC,TOPMed,gnomAD
rs1363677580	p.Glu892Asp	missense variant	-	NC_000003.12:g.129574345C>G	TOPMed
rs1021350900	p.Glu892Lys	missense variant	-	NC_000003.12:g.129574347C>T	TOPMed,gnomAD
rs558944120	p.His894Tyr	missense variant	-	NC_000003.12:g.129574341G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs558944120	p.His894Asn	missense variant	-	NC_000003.12:g.129574341G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs2625962	p.His894Arg	missense variant	-	NC_000003.12:g.129574340T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201781153	p.Ala895Val	missense variant	-	NC_000003.12:g.129574337G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs752323651	p.Ala895Thr	missense variant	-	NC_000003.12:g.129574338C>T	ExAC,TOPMed,gnomAD
rs1445315536	p.Glu897Lys	missense variant	-	NC_000003.12:g.129573742C>T	gnomAD
rs775659642	p.Pro902Leu	missense variant	-	NC_000003.12:g.129573726G>A	ExAC,TOPMed,gnomAD
rs775659642	p.Pro902Gln	missense variant	-	NC_000003.12:g.129573726G>T	ExAC,TOPMed,gnomAD
rs57901044	p.Asp904Glu	missense variant	-	NC_000003.12:g.129573719G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781562113	p.Gly905Asp	missense variant	-	NC_000003.12:g.129573717C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly905Ser	missense variant	-	NC_000003.12:g.129573718C>T	NCI-TCGA
rs778541089	p.Ile911Leu	missense variant	-	NC_000003.12:g.129573700T>G	ExAC,gnomAD
rs778541089	p.Ile911Val	missense variant	-	NC_000003.12:g.129573700T>C	ExAC,gnomAD
rs200244965	p.Arg912Gln	missense variant	-	NC_000003.12:g.129573696C>T	ESP,ExAC,TOPMed,gnomAD
rs1335979960	p.Arg912Ter	stop gained	-	NC_000003.12:g.129573697G>A	gnomAD
rs986929788	p.Gly913Glu	missense variant	-	NC_000003.12:g.129573693C>T	TOPMed
NCI-TCGA novel	p.Gly913Arg	missense variant	-	NC_000003.12:g.129573694C>T	NCI-TCGA
rs955079191	p.Leu916Met	missense variant	-	NC_000003.12:g.129573685G>T	TOPMed
rs376073785	p.Gly917Asp	missense variant	-	NC_000003.12:g.129573681C>T	ESP,ExAC,gnomAD
rs1393030164	p.Arg918Gly	missense variant	-	NC_000003.12:g.129573679G>C	TOPMed,gnomAD
rs767215800	p.Arg918Gln	missense variant	-	NC_000003.12:g.129573678C>T	ExAC,TOPMed,gnomAD
rs767215800	p.Arg918Leu	missense variant	-	NC_000003.12:g.129573678C>A	ExAC,TOPMed,gnomAD
rs774136197	p.Arg919Gln	missense variant	-	NC_000003.12:g.129573675C>T	ExAC,gnomAD
rs761870212	p.Arg919Trp	missense variant	-	NC_000003.12:g.129573676G>A	ExAC,TOPMed,gnomAD
rs1161559840	p.Leu920Phe	missense variant	-	NC_000003.12:g.129573673G>A	gnomAD
rs764275076	p.Asp922Asn	missense variant	-	NC_000003.12:g.129573667C>T	ExAC,gnomAD
rs762979740	p.Val923Met	missense variant	-	NC_000003.12:g.129573664C>T	ExAC,gnomAD
rs375475115	p.Gly926Ser	missense variant	-	NC_000003.12:g.129573655C>T	ExAC,TOPMed,gnomAD
rs375475115	p.Gly926Cys	missense variant	-	NC_000003.12:g.129573655C>A	ExAC,TOPMed,gnomAD
rs140355020	p.Val927Leu	missense variant	-	NC_000003.12:g.129573652C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val927Met	missense variant	-	NC_000003.12:g.129573652C>T	NCI-TCGA
rs780775472	p.Gly931Val	missense variant	-	NC_000003.12:g.129573639C>A	ExAC,TOPMed,gnomAD
rs780775472	p.Gly931Asp	missense variant	-	NC_000003.12:g.129573639C>T	ExAC,TOPMed,gnomAD
rs780775472	p.Gly931Ala	missense variant	-	NC_000003.12:g.129573639C>G	ExAC,TOPMed,gnomAD
rs1012086244	p.Ala933Asp	missense variant	-	NC_000003.12:g.129573633G>T	TOPMed
rs1012086244	p.Ala933Val	missense variant	-	NC_000003.12:g.129573633G>A	TOPMed
rs1016773564	p.Ala933Thr	missense variant	-	NC_000003.12:g.129573634C>T	TOPMed
NCI-TCGA novel	p.Glu935Lys	missense variant	-	NC_000003.12:g.129573628C>T	NCI-TCGA
rs894951272	p.Pro936Ala	missense variant	-	NC_000003.12:g.129573625G>C	TOPMed
rs906249435	p.Asp939Glu	missense variant	-	NC_000003.12:g.129573614G>T	TOPMed,gnomAD
rs906249435	p.Asp939Glu	missense variant	-	NC_000003.12:g.129573614G>C	TOPMed,gnomAD
rs768307077	p.Arg940Gly	missense variant	-	NC_000003.12:g.129573613T>C	ExAC,TOPMed,gnomAD
rs1438570771	p.Thr942Met	missense variant	-	NC_000003.12:g.129573606G>A	TOPMed,gnomAD
rs779859622	p.Val943Leu	missense variant	-	NC_000003.12:g.129573604C>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser944Leu	missense variant	-	NC_000003.12:g.129573600G>A	NCI-TCGA
rs1161680386	p.Glu945Lys	missense variant	-	NC_000003.12:g.129573598C>T	gnomAD
rs781091668	p.Glu946Gln	missense variant	-	NC_000003.12:g.129573595C>G	ExAC,TOPMed,gnomAD
rs754117151	p.Val948Met	missense variant	-	NC_000003.12:g.129572937C>T	ExAC,gnomAD
rs1450403986	p.Ala954Thr	missense variant	-	NC_000003.12:g.129572919C>T	TOPMed,gnomAD
rs144458113	p.Pro955Leu	missense variant	-	NC_000003.12:g.129572915G>A	ESP,ExAC,TOPMed,gnomAD
rs773782221	p.Pro957Ser	missense variant	-	NC_000003.12:g.129572910G>A	ExAC,TOPMed,gnomAD
rs767983898	p.Pro957Arg	missense variant	-	NC_000003.12:g.129572909G>C	ExAC,TOPMed,gnomAD
rs773782221	p.Pro957Thr	missense variant	-	NC_000003.12:g.129572910G>T	ExAC,TOPMed,gnomAD
rs767983898	p.Pro957Leu	missense variant	-	NC_000003.12:g.129572909G>A	ExAC,TOPMed,gnomAD
COSM6163244	p.Ser959Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129572903G>C	NCI-TCGA Cosmic
rs1183289492	p.Gly960Asp	missense variant	-	NC_000003.12:g.129572900C>T	gnomAD
rs1162854718	p.Gly960Ser	missense variant	-	NC_000003.12:g.129572901C>T	TOPMed
rs375900369	p.Thr963Ile	missense variant	-	NC_000003.12:g.129572891G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs553781761	p.Val964Met	missense variant	-	NC_000003.12:g.129572889C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758164377	p.Ala966Thr	missense variant	-	NC_000003.12:g.129572883C>T	ExAC,TOPMed,gnomAD
rs1031013150	p.Lys968Glu	missense variant	-	NC_000003.12:g.129572877T>C	TOPMed
rs138766960	p.Glu969Asp	missense variant	-	NC_000003.12:g.129572872C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748119471	p.Glu969Lys	missense variant	-	NC_000003.12:g.129572874C>T	ExAC,gnomAD
rs1230278028	p.Gly970Val	missense variant	-	NC_000003.12:g.129572870C>A	gnomAD
rs898065802	p.Ser972Phe	missense variant	-	NC_000003.12:g.129572864G>A	TOPMed,gnomAD
rs755104737	p.Arg973Trp	missense variant	-	NC_000003.12:g.129572862G>A	ExAC,TOPMed,gnomAD
rs200818763	p.Arg973Gln	missense variant	-	NC_000003.12:g.129572861C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200800403	p.Arg975His	missense variant	-	NC_000003.12:g.129572855C>T	ExAC,TOPMed,gnomAD
rs766477772	p.Arg975Cys	missense variant	-	NC_000003.12:g.129572856G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr978Ser	missense variant	-	NC_000003.12:g.129572846T>G	NCI-TCGA
rs372525375	p.Val979Met	missense variant	-	NC_000003.12:g.129572844C>T	ESP,ExAC,gnomAD
rs1405973711	p.Val979Ala	missense variant	-	NC_000003.12:g.129572843A>G	TOPMed
rs1369668259	p.Leu980Met	missense variant	-	NC_000003.12:g.129572748G>T	gnomAD
rs1297651687	p.Pro981Arg	missense variant	-	NC_000003.12:g.129572744G>C	gnomAD
rs760187831	p.His984Gln	missense variant	-	NC_000003.12:g.129572734G>C	ExAC,TOPMed,gnomAD
rs750005799	p.Ser985Phe	missense variant	-	NC_000003.12:g.129572732G>A	ExAC,TOPMed,gnomAD
rs1466364174	p.Glu987Lys	missense variant	-	NC_000003.12:g.129572727C>T	gnomAD
rs1360641621	p.Thr989Ala	missense variant	-	NC_000003.12:g.129572721T>C	TOPMed,gnomAD
rs1360641621	p.Thr989Ser	missense variant	-	NC_000003.12:g.129572721T>A	TOPMed,gnomAD
rs550715014	p.Met990Val	missense variant	-	NC_000003.12:g.129572718T>C	1000Genomes,ExAC,gnomAD
rs761506184	p.Gly991Arg	missense variant	-	NC_000003.12:g.129572715C>G	ExAC,gnomAD
rs1394627602	p.Pro992Ser	missense variant	-	NC_000003.12:g.129572712G>A	gnomAD
rs892391733	p.Lys993Asn	missense variant	-	NC_000003.12:g.129572707C>A	TOPMed
rs1189322899	p.Lys993Arg	missense variant	-	NC_000003.12:g.129572708T>C	TOPMed
rs1246431449	p.Ala994Val	missense variant	-	NC_000003.12:g.129572705G>A	gnomAD
rs1451348357	p.Ala994Ser	missense variant	-	NC_000003.12:g.129572706C>A	gnomAD
rs769789665	p.Gly995Arg	missense variant	-	NC_000003.12:g.129572703C>T	ExAC,TOPMed,gnomAD
rs745795153	p.Gly996Asp	missense variant	-	NC_000003.12:g.129572699C>T	ExAC,gnomAD
rs1347781954	p.Arg998Lys	missense variant	-	NC_000003.12:g.129572693C>T	gnomAD
rs778008007	p.Thr1000Ile	missense variant	-	NC_000003.12:g.129572687G>A	ExAC,TOPMed,gnomAD
rs747234882	p.Thr1000Ala	missense variant	-	NC_000003.12:g.129572688T>C	ExAC,TOPMed,gnomAD
rs1396201969	p.Ile1001Val	missense variant	-	NC_000003.12:g.129572685T>C	gnomAD
rs758707517	p.His1002Arg	missense variant	-	NC_000003.12:g.129572681T>C	ExAC,gnomAD
rs753045849	p.Asn1004Lys	missense variant	-	NC_000003.12:g.129572674A>T	ExAC,TOPMed,gnomAD
rs1371104255	p.Asp1005Val	missense variant	-	NC_000003.12:g.129572672T>A	gnomAD
rs1424579451	p.Gly1009Ser	missense variant	-	NC_000003.12:g.129572661C>T	gnomAD
rs1485515307	p.Ser1010Cys	missense variant	-	NC_000003.12:g.129572657G>C	gnomAD
rs756720065	p.Ser1010Ala	missense variant	-	NC_000003.12:g.129572658A>C	ExAC,gnomAD
rs141012983	p.Glu1011Lys	missense variant	-	NC_000003.12:g.129572655C>T	ESP,ExAC,TOPMed,gnomAD
rs1018875695	p.Leu1012His	missense variant	-	NC_000003.12:g.129572651A>T	TOPMed,gnomAD
rs1346777184	p.Leu1015Val	missense variant	-	NC_000003.12:g.129572643G>C	TOPMed
rs775423315	p.Val1016Met	missense variant	-	NC_000003.12:g.129572640C>T	ExAC,TOPMed,gnomAD
rs765110438	p.Asn1017Asp	missense variant	-	NC_000003.12:g.129572637T>C	ExAC,gnomAD
rs371974138	p.Asp1018His	missense variant	-	NC_000003.12:g.129572634C>G	ESP,ExAC,TOPMed,gnomAD
rs371974138	p.Asp1018Tyr	missense variant	-	NC_000003.12:g.129572634C>A	ESP,ExAC,TOPMed,gnomAD
rs371974138	p.Asp1018Asn	missense variant	-	NC_000003.12:g.129572634C>T	ESP,ExAC,TOPMed,gnomAD
rs368357322	p.Thr1019Ala	missense variant	-	NC_000003.12:g.129572631T>C	ESP,ExAC,gnomAD
rs1407901744	p.Asp1020Glu	missense variant	-	NC_000003.12:g.129572626G>T	gnomAD
rs1167400911	p.Pro1021Leu	missense variant	-	NC_000003.12:g.129572624G>A	TOPMed,gnomAD
rs773316907	p.Pro1021Ser	missense variant	-	NC_000003.12:g.129572625G>A	ExAC,TOPMed,gnomAD
rs1167400911	p.Pro1021His	missense variant	-	NC_000003.12:g.129572624G>T	TOPMed,gnomAD
rs773316907	p.Pro1021Ala	missense variant	-	NC_000003.12:g.129572625G>C	ExAC,TOPMed,gnomAD
rs1479179093	p.Cys1022Gly	missense variant	-	NC_000003.12:g.129572622A>C	TOPMed
rs376531619	p.Thr1023Met	missense variant	-	NC_000003.12:g.129572618G>A	ESP,ExAC,TOPMed,gnomAD
rs867173213	p.Glu1024Lys	missense variant	-	NC_000003.12:g.129572616C>T	TOPMed
rs891278669	p.Glu1024Ala	missense variant	-	NC_000003.12:g.129572615T>G	TOPMed,gnomAD
rs867173213	p.Glu1024Gln	missense variant	-	NC_000003.12:g.129572616C>G	TOPMed
rs779301177	p.Glu1024Asp	missense variant	-	NC_000003.12:g.129572614C>A	ExAC,gnomAD
rs755309421	p.Leu1025Met	missense variant	-	NC_000003.12:g.129572613G>T	ExAC,TOPMed,gnomAD
rs756772865	p.Met1026Thr	missense variant	-	NC_000003.12:g.129572609A>G	ExAC,gnomAD
rs202240015	p.Arg1027Gly	missense variant	-	NC_000003.12:g.129571843G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs202240015	p.Arg1027Cys	missense variant	-	NC_000003.12:g.129571843G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs754831143	p.Arg1027Pro	missense variant	-	NC_000003.12:g.129571842C>G	ExAC,TOPMed,gnomAD
rs754831143	p.Arg1027His	missense variant	-	NC_000003.12:g.129571842C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1027Leu	missense variant	-	NC_000003.12:g.129571842C>A	NCI-TCGA
rs753618504	p.Thr1028Ala	missense variant	-	NC_000003.12:g.129571840T>C	ExAC,gnomAD
rs766270548	p.Thr1030Ile	missense variant	-	NC_000003.12:g.129571833G>A	ExAC,TOPMed,gnomAD
rs766270548	p.Thr1030Ser	missense variant	-	NC_000003.12:g.129571833G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1031Asn	missense variant	-	NC_000003.12:g.129571830C>T	NCI-TCGA
rs760717763	p.Ile1032Val	missense variant	-	NC_000003.12:g.129571828T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile1032Met	missense variant	-	NC_000003.12:g.129571826G>C	NCI-TCGA
rs1026421973	p.Ala1033Thr	missense variant	-	NC_000003.12:g.129571825C>T	TOPMed,gnomAD
rs1026421973	p.Ala1033Ser	missense variant	-	NC_000003.12:g.129571825C>A	TOPMed,gnomAD
rs767671070	p.Cys1034Ser	missense variant	-	NC_000003.12:g.129571822A>T	ExAC,gnomAD
rs767671070	p.Cys1034Gly	missense variant	-	NC_000003.12:g.129571822A>C	ExAC,gnomAD
rs761754387	p.Thr1035Ser	missense variant	-	NC_000003.12:g.129571818G>C	ExAC,gnomAD
NCI-TCGA novel	p.Pro1037Leu	missense variant	-	NC_000003.12:g.129571812G>A	NCI-TCGA
rs768801485	p.Ala1040Asp	missense variant	-	NC_000003.12:g.129571803G>T	ExAC,gnomAD
rs774569801	p.Ala1040Pro	missense variant	-	NC_000003.12:g.129571804C>G	ExAC,TOPMed,gnomAD
rs150425885	p.Leu1041Val	missense variant	-	NC_000003.12:g.129571801G>C	ESP,ExAC,TOPMed,gnomAD
rs1249513462	p.Leu1041Pro	missense variant	-	NC_000003.12:g.129571800A>G	gnomAD
rs140515853	p.Pro1042Arg	missense variant	-	NC_000003.12:g.129571797G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140515853	p.Pro1042Leu	missense variant	-	NC_000003.12:g.129571797G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs867989433	p.Pro1044Leu	missense variant	-	NC_000003.12:g.129571791G>A	TOPMed,gnomAD
COSM1308551	p.Pro1044Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129571792G>C	NCI-TCGA Cosmic
rs771634154	p.Val1047Leu	missense variant	-	NC_000003.12:g.129571783C>A	ExAC,gnomAD
rs771634154	p.Val1047Met	missense variant	-	NC_000003.12:g.129571783C>T	ExAC,gnomAD
rs1435803735	p.Val1047Glu	missense variant	-	NC_000003.12:g.129571782A>T	TOPMed
rs778709286	p.Cys1048Tyr	missense variant	-	NC_000003.12:g.129571779C>T	ExAC,gnomAD
rs1271858561	p.Val1049Ala	missense variant	-	NC_000003.12:g.129571776A>G	TOPMed
rs1365969788	p.Arg1050Cys	missense variant	-	NC_000003.12:g.129571774G>A	gnomAD
rs1365969788	p.Arg1050Gly	missense variant	-	NC_000003.12:g.129571774G>C	gnomAD
rs754741405	p.Arg1050His	missense variant	-	NC_000003.12:g.129571773C>T	ExAC,TOPMed,gnomAD
rs755829115	p.Glu1052Lys	missense variant	-	NC_000003.12:g.129571768C>T	ExAC,TOPMed,gnomAD
rs755829115	p.Glu1052Gln	missense variant	-	NC_000003.12:g.129571768C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1052Asp	missense variant	-	NC_000003.12:g.129571766C>A	NCI-TCGA
NCI-TCGA novel	p.Glu1052Gly	missense variant	-	NC_000003.12:g.129571767T>C	NCI-TCGA
NCI-TCGA novel	p.Glu1052Ter	stop gained	-	NC_000003.12:g.129571768C>A	NCI-TCGA
rs767303855	p.Arg1053His	missense variant	-	NC_000003.12:g.129571764C>T	ExAC,TOPMed,gnomAD
rs750400100	p.Arg1053Cys	missense variant	-	NC_000003.12:g.129571765G>A	ExAC,gnomAD
rs767303855	p.Arg1053Leu	missense variant	-	NC_000003.12:g.129571764C>A	ExAC,TOPMed,gnomAD
rs761956464	p.Arg1054Trp	missense variant	-	NC_000003.12:g.129571762G>A	ExAC,gnomAD
rs751705209	p.Arg1054Gln	missense variant	-	NC_000003.12:g.129571761C>T	ExAC,TOPMed,gnomAD
rs1391429645	p.Gly1055Cys	missense variant	-	NC_000003.12:g.129571759C>A	TOPMed,gnomAD
rs144636545	p.Gly1055Ala	missense variant	-	NC_000003.12:g.129571758C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1391429645	p.Gly1055Arg	missense variant	-	NC_000003.12:g.129571759C>G	TOPMed,gnomAD
rs144636545	p.Gly1055Val	missense variant	-	NC_000003.12:g.129571758C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144636545	p.Gly1055Asp	missense variant	-	NC_000003.12:g.129571758C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145714408	p.Val1057Met	missense variant	-	NC_000003.12:g.129571753C>T	ESP,ExAC,TOPMed,gnomAD
rs1484529009	p.His1058Asn	missense variant	-	NC_000003.12:g.129571750G>T	gnomAD
rs200072931	p.Gly1059Ser	missense variant	-	NC_000003.12:g.129571747C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200072931	p.Gly1059Arg	missense variant	-	NC_000003.12:g.129571747C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs371911654	p.Asn1060Ser	missense variant	-	NC_000003.12:g.129571743T>C	ESP,ExAC,TOPMed,gnomAD
rs371911654	p.Asn1060Thr	missense variant	-	NC_000003.12:g.129571743T>G	ESP,ExAC,TOPMed,gnomAD
rs768251994	p.Leu1061His	missense variant	-	NC_000003.12:g.129571740A>T	ExAC,gnomAD
rs1213096832	p.Thr1062Ile	missense variant	-	NC_000003.12:g.129571737G>A	TOPMed,gnomAD
rs1213096832	p.Thr1062Asn	missense variant	-	NC_000003.12:g.129571737G>T	TOPMed,gnomAD
rs140074711	p.Met1066Thr	missense variant	-	NC_000003.12:g.129571725A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1338963319	p.Met1066Leu	missense variant	-	NC_000003.12:g.129571726T>G	TOPMed,gnomAD
rs779527122	p.Pro1069Leu	missense variant	-	NC_000003.12:g.129571716G>A	ExAC,gnomAD
rs1371912824	p.Ile1071Val	missense variant	-	NC_000003.12:g.129571711T>C	TOPMed,gnomAD
rs368846706	p.Thr1072Met	missense variant	-	NC_000003.12:g.129571707G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1073Thr	missense variant	-	NC_000003.12:g.129571705C>T	NCI-TCGA
COSM3587253	p.Pro1076Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129571696G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Pro1076Leu	missense variant	-	NC_000003.12:g.129571695G>A	NCI-TCGA
rs764196524	p.Arg1077His	missense variant	-	NC_000003.12:g.129571692C>T	ExAC,TOPMed,gnomAD
rs370292037	p.Arg1077Cys	missense variant	-	NC_000003.12:g.129571693G>A	ESP,ExAC,TOPMed,gnomAD
rs752984753	p.Arg1078Cys	missense variant	-	NC_000003.12:g.129571690G>A	ExAC,TOPMed,gnomAD
rs139105373	p.Arg1078His	missense variant	-	NC_000003.12:g.129571689C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser1079Ile	missense variant	-	NC_000003.12:g.129571686C>A	NCI-TCGA
rs1004674270	p.Pro1080Leu	missense variant	-	NC_000003.12:g.129571683G>A	TOPMed
rs1179491459	p.Val1081Phe	missense variant	-	NC_000003.12:g.129571681C>A	TOPMed
rs776923438	p.Ser1082Gly	missense variant	-	NC_000003.12:g.129571678T>C	ExAC
rs762376973	p.Gly1084Ser	missense variant	-	NC_000003.12:g.129571595C>T	ExAC,gnomAD
rs774922192	p.Val1089Met	missense variant	-	NC_000003.12:g.129571580C>T	ExAC,gnomAD
rs770731753	p.Glu1092Gly	missense variant	-	NC_000003.12:g.129571570T>C	ExAC,gnomAD
rs748102549	p.Arg1093Gly	missense variant	-	NC_000003.12:g.129571568G>C	ExAC,TOPMed
rs748102549	p.Arg1093Cys	missense variant	-	NC_000003.12:g.129571568G>A	ExAC,TOPMed
rs748102549	p.Arg1093Ser	missense variant	-	NC_000003.12:g.129571568G>T	ExAC,TOPMed
rs372693427	p.Arg1093His	missense variant	-	NC_000003.12:g.129571567C>T	ESP,ExAC,TOPMed,gnomAD
rs1330979104	p.Met1096Thr	missense variant	-	NC_000003.12:g.129571558A>G	TOPMed
rs1320735027	p.Met1096Val	missense variant	-	NC_000003.12:g.129571559T>C	gnomAD
rs200409964	p.Val1097Ala	missense variant	-	NC_000003.12:g.129571555A>G	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Gln1098His	missense variant	-	NC_000003.12:g.129571551C>G	NCI-TCGA
NCI-TCGA novel	p.Gln1098His	missense variant	-	NC_000003.12:g.129571551C>A	NCI-TCGA
rs750885708	p.Asn1099Ser	missense variant	-	NC_000003.12:g.129571549T>C	ExAC,gnomAD
rs756552931	p.Asn1099His	missense variant	-	NC_000003.12:g.129571550T>G	ExAC,TOPMed,gnomAD
rs767984224	p.Val1100Met	missense variant	-	NC_000003.12:g.129571547C>T	ExAC,gnomAD
rs1452595807	p.Met1102Leu	missense variant	-	NC_000003.12:g.129571541T>G	gnomAD
rs141540298	p.Val1104Ile	missense variant	-	NC_000003.12:g.129571535C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776276010	p.His1105Leu	missense variant	-	NC_000003.12:g.129571531T>A	ExAC,gnomAD
rs1226680275	p.His1105Tyr	missense variant	-	NC_000003.12:g.129571532G>A	TOPMed
rs776276010	p.His1105Arg	missense variant	-	NC_000003.12:g.129571531T>C	ExAC,gnomAD
rs1259297987	p.His1106Gln	missense variant	-	NC_000003.12:g.129571527G>T	TOPMed,gnomAD
rs770500559	p.Gly1108Asp	missense variant	-	NC_000003.12:g.129571522C>T	ExAC,gnomAD
rs1339665520	p.Arg1109Trp	missense variant	-	NC_000003.12:g.129571520G>A	TOPMed
rs139947135	p.Arg1109Gln	missense variant	-	NC_000003.12:g.129571519C>T	ESP,ExAC,TOPMed,gnomAD
COSM3587251	p.Glu1110Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129571517C>T	NCI-TCGA Cosmic
rs1283013477	p.Pro1111Ser	missense variant	-	NC_000003.12:g.129571514G>A	gnomAD
rs201941160	p.Pro1111Leu	missense variant	-	NC_000003.12:g.129571513G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146029556	p.Thr1112Met	missense variant	-	NC_000003.12:g.129571510G>A	ESP,ExAC,gnomAD
rs769967463	p.Leu1113Phe	missense variant	-	NC_000003.12:g.129571303G>A	ExAC,gnomAD
COSM3992716	p.Cys1114Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129571299C>G	NCI-TCGA Cosmic
rs1471674161	p.Val1116Ile	missense variant	-	NC_000003.12:g.129571294C>T	TOPMed
NCI-TCGA novel	p.Val1116Asp	missense variant	-	NC_000003.12:g.129571293A>T	NCI-TCGA
rs1485630702	p.Asn1118Thr	missense variant	-	NC_000003.12:g.129571287T>G	gnomAD
rs746126985	p.Thr1120Asn	missense variant	-	NC_000003.12:g.129571281G>T	ExAC,gnomAD
rs1346327376	p.Ile1122Thr	missense variant	-	NC_000003.12:g.129571275A>G	TOPMed
rs1292149795	p.Thr1123Ala	missense variant	-	NC_000003.12:g.129571273T>C	TOPMed
rs1336722472	p.Cys1124Tyr	missense variant	-	NC_000003.12:g.129571269C>T	gnomAD
rs371946568	p.Pro1125Leu	missense variant	-	NC_000003.12:g.129571266G>A	ESP,ExAC,TOPMed,gnomAD
COSM4859102	p.Ser1126Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129571263G>A	NCI-TCGA Cosmic
rs1351045883	p.Pro1127Leu	missense variant	-	NC_000003.12:g.129571260G>A	gnomAD
NCI-TCGA novel	p.Gly1128Arg	missense variant	-	NC_000003.12:g.129571258C>T	NCI-TCGA
rs1393243018	p.Ala1129Val	missense variant	-	NC_000003.12:g.129571254G>A	gnomAD
rs755580777	p.Ala1133Thr	missense variant	-	NC_000003.12:g.129571243C>T	ExAC,gnomAD
rs368894810	p.Ala1135Val	missense variant	-	NC_000003.12:g.129571236G>A	ESP,ExAC,TOPMed,gnomAD
rs763778154	p.Phe1139Leu	missense variant	-	NC_000003.12:g.129571225A>G	ExAC,TOPMed,gnomAD
rs955862564	p.Phe1140Leu	missense variant	-	NC_000003.12:g.129571222A>G	gnomAD
rs1210135132	p.Ile1141Val	missense variant	-	NC_000003.12:g.129571219T>C	gnomAD
rs763027888	p.Arg1144Trp	missense variant	-	NC_000003.12:g.129571210G>A	ExAC,TOPMed,gnomAD
rs775532260	p.Arg1144Gln	missense variant	-	NC_000003.12:g.129571209C>T	ExAC,gnomAD
rs763027888	p.Arg1144Gly	missense variant	-	NC_000003.12:g.129571210G>C	ExAC,TOPMed,gnomAD
rs369266139	p.Ala1147Thr	missense variant	-	NC_000003.12:g.129571201C>T	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ala1147Val	missense variant	-	NC_000003.12:g.129571200G>A	NCI-TCGA
rs148029269	p.Asp1148Glu	missense variant	-	NC_000003.12:g.129571196G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs771247738	p.Glu1149Lys	missense variant	-	NC_000003.12:g.129571195C>T	ExAC,TOPMed,gnomAD
rs143564778	p.Val1150Leu	missense variant	-	NC_000003.12:g.129571192C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1441995158	p.Ala1153Ser	missense variant	-	NC_000003.12:g.129571183C>A	gnomAD
rs758658232	p.Glu1154Gly	missense variant	-	NC_000003.12:g.129571179T>C	ExAC,gnomAD
rs1425726953	p.Leu1157Val	missense variant	-	NC_000003.12:g.129571171G>C	TOPMed
rs1273421282	p.Asp1158Asn	missense variant	-	NC_000003.12:g.129571168C>T	gnomAD
NCI-TCGA novel	p.Glu1160Ter	stop gained	-	NC_000003.12:g.129571162C>A	NCI-TCGA
rs755627919	p.Glu1160Lys	missense variant	-	NC_000003.12:g.129571162C>T	ExAC,TOPMed,gnomAD
rs778884287	p.Ala1162Ser	missense variant	-	NC_000003.12:g.129571156C>A	ExAC,gnomAD
rs112106611	p.Arg1164Trp	missense variant	-	NC_000003.12:g.129571150G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138816015	p.Arg1164Gln	missense variant	-	NC_000003.12:g.129571149C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs112106611	p.Arg1164Gly	missense variant	-	NC_000003.12:g.129571150G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762790668	p.Gly1165Asp	missense variant	-	NC_000003.12:g.129571146C>T	ExAC,TOPMed,gnomAD
rs200890421	p.Arg1169His	missense variant	-	NC_000003.12:g.129571134C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144843366	p.Arg1169Ser	missense variant	-	NC_000003.12:g.129571135G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200890421	p.Arg1169Leu	missense variant	-	NC_000003.12:g.129571134C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144843366	p.Arg1169Cys	missense variant	-	NC_000003.12:g.129571135G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro1174His	missense variant	-	NC_000003.12:g.129571119G>T	NCI-TCGA
rs776826018	p.Phe1178Leu	missense variant	-	NC_000003.12:g.129571106G>T	ExAC,gnomAD
rs528635984	p.Thr1180Met	missense variant	-	NC_000003.12:g.129571101G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1235120980	p.Lys1182Asn	missense variant	-	NC_000003.12:g.129571094C>G	gnomAD
rs1350095945	p.Arg1183Thr	missense variant	-	NC_000003.12:g.129571092C>G	TOPMed,gnomAD
rs1301554901	p.Lys1188Glu	missense variant	-	NC_000003.12:g.129571078T>C	gnomAD
rs1014375224	p.Pro1191Thr	missense variant	-	NC_000003.12:g.129571069G>T	TOPMed
rs748452504	p.Gly1192Trp	missense variant	-	NC_000003.12:g.129571066C>A	ExAC,gnomAD
rs748452504	p.Gly1192Arg	missense variant	-	NC_000003.12:g.129571066C>T	ExAC,gnomAD
NCI-TCGA novel	p.Glu1193Lys	missense variant	-	NC_000003.12:g.129571063C>T	NCI-TCGA
rs1031715150	p.Pro1194Leu	missense variant	-	NC_000003.12:g.129571059G>A	TOPMed
rs769210323	p.Pro1194Ala	missense variant	-	NC_000003.12:g.129571060G>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu1197Ile	missense variant	-	NC_000003.12:g.129571051G>T	NCI-TCGA
rs780799217	p.Val1198Ile	missense variant	-	NC_000003.12:g.129571048C>T	ExAC,TOPMed,gnomAD
rs770268179	p.Glu1202Gly	missense variant	-	NC_000003.12:g.129570931T>C	ExAC,gnomAD
rs1282872800	p.Ser1205Cys	missense variant	-	NC_000003.12:g.129570923T>A	TOPMed
rs772894071	p.Gln1209Arg	missense variant	-	NC_000003.12:g.129570910T>C	ExAC,gnomAD
rs552585270	p.His1211Gln	missense variant	-	NC_000003.12:g.129570903G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs907623473	p.Glu1212Ala	missense variant	-	NC_000003.12:g.129570901T>G	TOPMed,gnomAD
rs1052503185	p.Arg1214Trp	missense variant	-	NC_000003.12:g.129570896G>A	gnomAD
rs147110369	p.Arg1214Gln	missense variant	-	NC_000003.12:g.129570895C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs576577594	p.Val1215Leu	missense variant	-	NC_000003.12:g.129570893C>G	1000Genomes,ExAC,gnomAD
rs756056909	p.Lys1216Asn	missense variant	-	NC_000003.12:g.129570888C>G	ExAC,gnomAD
rs1457476314	p.Ile1217Thr	missense variant	-	NC_000003.12:g.129570886A>G	gnomAD
rs1273988496	p.Val1220Ile	missense variant	-	NC_000003.12:g.129570878C>T	gnomAD
rs1215951455	p.Ser1221Arg	missense variant	-	NC_000003.12:g.129570875T>G	gnomAD
rs1273132717	p.Asp1223Asn	missense variant	-	NC_000003.12:g.129570869C>T	TOPMed,gnomAD
rs1273132717	p.Asp1223His	missense variant	-	NC_000003.12:g.129570869C>G	TOPMed,gnomAD
rs1374937089	p.Gln1225Lys	missense variant	-	NC_000003.12:g.129570863G>T	gnomAD
rs978592865	p.Gln1225His	missense variant	-	NC_000003.12:g.129570861C>G	TOPMed
rs757281679	p.Val1227Asp	missense variant	-	NC_000003.12:g.129570856A>T	ExAC,gnomAD
rs1440757395	p.Asp1229Tyr	missense variant	-	NC_000003.12:g.129570851C>A	gnomAD
rs764237268	p.Ile1231Leu	missense variant	-	NC_000003.12:g.129570845T>G	ExAC
rs765611182	p.Cys1234Arg	missense variant	-	NC_000003.12:g.129570836A>G	ExAC,TOPMed,gnomAD
rs777234602	p.Ser1235Leu	missense variant	-	NC_000003.12:g.129570832G>A	ExAC,gnomAD
rs368046868	p.Asn1237Ser	missense variant	-	NC_000003.12:g.129570826T>C	ESP,ExAC,gnomAD
rs373964333	p.Asn1237Lys	missense variant	-	NC_000003.12:g.129570825G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1253904861	p.Glu1238Gly	missense variant	-	NC_000003.12:g.129570823T>C	TOPMed,gnomAD
rs915858830	p.Glu1238Lys	missense variant	-	NC_000003.12:g.129570824C>T	TOPMed,gnomAD
rs775238537	p.Glu1238Asp	missense variant	-	NC_000003.12:g.129570822C>G	ExAC,TOPMed,gnomAD
rs1225453591	p.Leu1240Pro	missense variant	-	NC_000003.12:g.129570817A>G	TOPMed
rs781053507	p.Ala1242Val	missense variant	-	NC_000003.12:g.129570811G>A	ExAC,TOPMed,gnomAD
rs781053507	p.Ala1242Glu	missense variant	-	NC_000003.12:g.129570811G>T	ExAC,TOPMed,gnomAD
rs140631068	p.Ala1242Thr	missense variant	-	NC_000003.12:g.129570812C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140631068	p.Ala1242Ser	missense variant	-	NC_000003.12:g.129570812C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758594847	p.Val1244Met	missense variant	-	NC_000003.12:g.129570806C>T	ExAC,gnomAD
rs758594847	p.Val1244Leu	missense variant	-	NC_000003.12:g.129570806C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln1246Ter	stop gained	-	NC_000003.12:g.129570800G>A	NCI-TCGA
rs765548071	p.Pro1248Ser	missense variant	-	NC_000003.12:g.129570794G>A	ExAC,TOPMed,gnomAD
rs755398573	p.Ile1251Met	missense variant	-	NC_000003.12:g.129569955G>C	ExAC,gnomAD
rs754320128	p.Val1253Ile	missense variant	-	NC_000003.12:g.129569951C>T	ExAC,TOPMed,gnomAD
COSM3695807	p.Gly1254Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129569947C>T	NCI-TCGA Cosmic
rs1193998857	p.Ile1260Thr	missense variant	-	NC_000003.12:g.129569929A>G	TOPMed
rs572370997	p.Ala1261Thr	missense variant	-	NC_000003.12:g.129569927C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs572370997	p.Ala1261Ser	missense variant	-	NC_000003.12:g.129569927C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750905119	p.Thr1262Ala	missense variant	-	NC_000003.12:g.129569924T>C	ExAC,gnomAD
rs1482623768	p.Thr1262Ile	missense variant	-	NC_000003.12:g.129569923G>A	gnomAD
COSM3587244	p.Leu1263Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129569921G>C	NCI-TCGA Cosmic
rs762468704	p.Gln1264Arg	missense variant	-	NC_000003.12:g.129569917T>C	ExAC,TOPMed,gnomAD
rs762468704	p.Gln1264Leu	missense variant	-	NC_000003.12:g.129569917T>A	ExAC,TOPMed,gnomAD
rs775012478	p.Leu1265Pro	missense variant	-	NC_000003.12:g.129569914A>G	ExAC,gnomAD
rs148418284	p.Gly1266Arg	missense variant	-	NC_000003.12:g.129569912C>T	ESP,ExAC,TOPMed,gnomAD
rs148418284	p.Gly1266Arg	missense variant	-	NC_000003.12:g.129569912C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly1266Ala	missense variant	-	NC_000003.12:g.129569911C>G	NCI-TCGA
rs759179864	p.Gly1267Asp	missense variant	-	NC_000003.12:g.129569908C>T	ExAC,TOPMed,gnomAD
rs1455634637	p.Gly1267Ser	missense variant	-	NC_000003.12:g.129569909C>T	TOPMed,gnomAD
rs776456647	p.Ser1268Thr	missense variant	-	NC_000003.12:g.129569905C>G	ExAC,gnomAD
COSM1418849	p.Ser1268GlnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129569907_129569908insC	NCI-TCGA Cosmic
rs770678368	p.Glu1269Gln	missense variant	-	NC_000003.12:g.129569903C>G	ExAC,TOPMed,gnomAD
rs373240621	p.Thr1270Met	missense variant	-	NC_000003.12:g.129569899G>A	ESP,ExAC,TOPMed,gnomAD
rs1298997689	p.Ile1273Phe	missense variant	-	NC_000003.12:g.129569891T>A	TOPMed,gnomAD
rs748190414	p.Val1274Leu	missense variant	-	NC_000003.12:g.129569888C>A	ExAC,TOPMed,gnomAD
rs748190414	p.Val1274Met	missense variant	-	NC_000003.12:g.129569888C>T	ExAC,TOPMed,gnomAD
rs778853676	p.Ser1275Phe	missense variant	-	NC_000003.12:g.129569884G>A	ExAC,gnomAD
rs377240834	p.Ile1276Val	missense variant	-	NC_000003.12:g.129569882T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1276Ser	missense variant	-	NC_000003.12:g.129569881A>C	NCI-TCGA
rs749491033	p.Val1277Ile	missense variant	-	NC_000003.12:g.129569879C>T	ExAC,TOPMed,gnomAD
rs1422784258	p.Val1277Ala	missense variant	-	NC_000003.12:g.129569878A>G	gnomAD
rs780597839	p.Ser1280Gly	missense variant	-	NC_000003.12:g.129569870T>C	ExAC,gnomAD
rs780108033	p.Val1281Ile	missense variant	-	NC_000003.12:g.129569867C>T	ExAC,TOPMed,gnomAD
rs1246847900	p.Leu1283Val	missense variant	-	NC_000003.12:g.129569861G>C	TOPMed
rs759222944	p.Leu1285Phe	missense variant	-	NC_000003.12:g.129569855G>A	ExAC,TOPMed,gnomAD
rs759222944	p.Leu1285Ile	missense variant	-	NC_000003.12:g.129569855G>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1285Pro	missense variant	-	NC_000003.12:g.129569854A>G	NCI-TCGA
rs772112447	p.Val1287Leu	missense variant	-	NC_000003.12:g.129569849C>A	ExAC,TOPMed,gnomAD
rs772112447	p.Val1287Met	missense variant	-	NC_000003.12:g.129569849C>T	ExAC,TOPMed,gnomAD
rs772112447	p.Val1287Leu	missense variant	-	NC_000003.12:g.129569849C>G	ExAC,TOPMed,gnomAD
rs143319606	p.Val1288Met	missense variant	-	NC_000003.12:g.129569846C>T	ESP,ExAC,TOPMed,gnomAD
rs139808034	p.Phe1291Leu	missense variant	-	NC_000003.12:g.129567798G>C	ESP,ExAC,TOPMed,gnomAD
rs145949325	p.Val1292Ile	missense variant	-	NC_000003.12:g.129567797C>T	ESP,ExAC,TOPMed,gnomAD
rs145949325	p.Val1292Phe	missense variant	-	NC_000003.12:g.129567797C>A	ESP,ExAC,TOPMed,gnomAD
rs1395787465	p.Cys1294Arg	missense variant	-	NC_000003.12:g.129567791A>G	TOPMed
rs749316408	p.Arg1298Gln	missense variant	-	NC_000003.12:g.129567778C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg1298Ter	stop gained	-	NC_000003.12:g.129567779G>A	NCI-TCGA
rs775710332	p.Arg1299His	missense variant	-	NC_000003.12:g.129567775C>T	ExAC,gnomAD
rs1285397379	p.Glu1301Lys	missense variant	-	NC_000003.12:g.129567770C>T	TOPMed,gnomAD
rs1235376271	p.Arg1302Ser	missense variant	-	NC_000003.12:g.129567767G>T	gnomAD
rs369890848	p.Arg1302His	missense variant	-	NC_000003.12:g.129567766C>T	ESP,ExAC,TOPMed,gnomAD
COSM3587242	p.Trp1304Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129567760C>T	NCI-TCGA Cosmic
rs1327363739	p.Thr1307Met	missense variant	-	NC_000003.12:g.129567751G>A	gnomAD
rs1359407974	p.Gln1310Ter	stop gained	-	NC_000003.12:g.129567743G>A	gnomAD
rs778192749	p.Met1311Ile	missense variant	-	NC_000003.12:g.129567738C>T	ExAC,TOPMed,gnomAD
rs1399649840	p.Glu1313Lys	missense variant	-	NC_000003.12:g.129567734C>T	gnomAD
NCI-TCGA novel	p.Arg1319Ter	stop gained	-	NC_000003.12:g.129567716G>A	NCI-TCGA
COSM3587240	p.Arg1323Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129567704G>A	NCI-TCGA Cosmic
COSM284106	p.Arg1323His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129567703C>T	NCI-TCGA Cosmic
rs752646155	p.Gly1325Ala	missense variant	-	NC_000003.12:g.129567604C>G	ExAC,gnomAD
rs1337173064	p.Ala1327Thr	missense variant	-	NC_000003.12:g.129567599C>T	gnomAD
rs1328826189	p.Ala1327Val	missense variant	-	NC_000003.12:g.129567598G>A	gnomAD
rs759471877	p.Thr1331Ala	missense variant	-	NC_000003.12:g.129567587T>C	ExAC,gnomAD
rs1403519007	p.Asp1332Asn	missense variant	-	NC_000003.12:g.129567584C>T	gnomAD
COSM1038121	p.Asp1332Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129567581_129567584TGTC>-	NCI-TCGA Cosmic
rs139210040	p.Met1333Val	missense variant	-	NC_000003.12:g.129567581T>C	ESP,ExAC,TOPMed,gnomAD
rs139210040	p.Met1333Leu	missense variant	-	NC_000003.12:g.129567581T>A	ESP,ExAC,TOPMed,gnomAD
rs760872411	p.Leu1336Ile	missense variant	-	NC_000003.12:g.129567572G>T	ExAC,gnomAD
rs760872411	p.Leu1336Val	missense variant	-	NC_000003.12:g.129567572G>C	ExAC,gnomAD
rs201890582	p.Lys1338Met	missense variant	-	NC_000003.12:g.129567565T>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Lys1338Arg	missense variant	-	NC_000003.12:g.129567565T>C	NCI-TCGA
rs141261540	p.Leu1340Pro	missense variant	-	NC_000003.12:g.129567559A>G	ESP,gnomAD
rs774664636	p.Arg1342Cys	missense variant	-	NC_000003.12:g.129567554G>A	ExAC,gnomAD
rs774664636	p.Arg1342Gly	missense variant	-	NC_000003.12:g.129567554G>C	ExAC,gnomAD
rs769351907	p.Arg1342His	missense variant	-	NC_000003.12:g.129567553C>T	ExAC,TOPMed,gnomAD
rs1289714715	p.Ser1343Asn	missense variant	-	NC_000003.12:g.129567550C>T	gnomAD
rs1433776539	p.Gln1344Pro	missense variant	-	NC_000003.12:g.129567547T>G	TOPMed
rs1223886297	p.Gly1345Ser	missense variant	-	NC_000003.12:g.129567545C>T	gnomAD
rs1352157495	p.Pro1347His	missense variant	-	NC_000003.12:g.129567538G>T	gnomAD
rs780742135	p.Glu1350Asp	missense variant	-	NC_000003.12:g.129567528C>A	ExAC,gnomAD
rs183250689	p.His1353Tyr	missense variant	-	NC_000003.12:g.129567521G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs777745581	p.Val1355Met	missense variant	-	NC_000003.12:g.129567515C>T	ExAC,gnomAD
rs752691422	p.Arg1357His	missense variant	-	NC_000003.12:g.129567508C>T	ExAC
rs926244669	p.Arg1357Cys	missense variant	-	NC_000003.12:g.129567509G>A	gnomAD
rs926244669	p.Arg1357Ser	missense variant	-	NC_000003.12:g.129567509G>T	gnomAD
NCI-TCGA novel	p.Arg1357Leu	missense variant	-	NC_000003.12:g.129567508C>A	NCI-TCGA
rs980521019	p.Thr1358Ile	missense variant	-	NC_000003.12:g.129567505G>A	TOPMed,gnomAD
rs980521019	p.Thr1358Ser	missense variant	-	NC_000003.12:g.129567505G>C	TOPMed,gnomAD
rs1439304202	p.Phe1360Leu	missense variant	-	NC_000003.12:g.129567498G>T	gnomAD
rs1346857374	p.Lys1362Asn	missense variant	-	NC_000003.12:g.129567492C>G	TOPMed
NCI-TCGA novel	p.Lys1362Asn	missense variant	-	NC_000003.12:g.129567492C>A	NCI-TCGA
NCI-TCGA novel	p.Glu1368Lys	missense variant	-	NC_000003.12:g.129566616C>T	NCI-TCGA
rs766476368	p.Arg1370His	missense variant	-	NC_000003.12:g.129566609C>T	ExAC,TOPMed,gnomAD
rs753775752	p.Arg1370Cys	missense variant	-	NC_000003.12:g.129566610G>A	ExAC,TOPMed,gnomAD
rs766476368	p.Arg1370Leu	missense variant	-	NC_000003.12:g.129566609C>A	ExAC,TOPMed,gnomAD
rs750649180	p.Val1372Met	missense variant	-	NC_000003.12:g.129566604C>T	ExAC,gnomAD
rs750649180	p.Val1372Leu	missense variant	-	NC_000003.12:g.129566604C>G	ExAC,gnomAD
rs767794921	p.Pro1374Arg	missense variant	-	NC_000003.12:g.129566597G>C	ExAC,gnomAD
rs1358739852	p.Pro1374Ser	missense variant	-	NC_000003.12:g.129566598G>A	TOPMed,gnomAD
rs762010911	p.Ser1375Thr	missense variant	-	NC_000003.12:g.129566595A>T	ExAC
rs1422136267	p.Ser1375Phe	missense variant	-	NC_000003.12:g.129566594G>A	TOPMed,gnomAD
rs774629970	p.Leu1378Phe	missense variant	-	NC_000003.12:g.129566586G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gln1381Ter	stop gained	-	NC_000003.12:g.129566577G>A	NCI-TCGA
rs200954386	p.Gly1382Asp	missense variant	-	NC_000003.12:g.129566573C>T	TOPMed,gnomAD
COSM1038118	p.Ser1383Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129566569G>T	NCI-TCGA Cosmic
rs764490015	p.Ser1383Gly	missense variant	-	NC_000003.12:g.129566571T>C	ExAC,gnomAD
rs763404746	p.Gln1385Arg	missense variant	-	NC_000003.12:g.129566564T>C	ExAC,TOPMed,gnomAD
rs377733691	p.Pro1391Gln	missense variant	-	NC_000003.12:g.129566546G>T	ESP,ExAC,TOPMed,gnomAD
rs1251461055	p.Pro1391Ser	missense variant	-	NC_000003.12:g.129566547G>A	gnomAD
rs760192767	p.Lys1397Gln	missense variant	-	NC_000003.12:g.129566529T>G	ExAC,TOPMed,gnomAD
rs760192767	p.Lys1397Glu	missense variant	-	NC_000003.12:g.129566529T>C	ExAC,TOPMed,gnomAD
rs771675552	p.Glu1400Gln	missense variant	-	NC_000003.12:g.129566011C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1400Lys	missense variant	-	NC_000003.12:g.129566011C>T	NCI-TCGA
rs761402697	p.Ser1401Asn	missense variant	-	NC_000003.12:g.129566007C>T	ExAC,TOPMed,gnomAD
rs774005275	p.Arg1403Trp	missense variant	-	NC_000003.12:g.129566002G>A	ExAC,TOPMed,gnomAD
rs768348972	p.Arg1403Gln	missense variant	-	NC_000003.12:g.129566001C>T	ExAC,TOPMed,gnomAD
rs768348972	p.Arg1403Leu	missense variant	-	NC_000003.12:g.129566001C>A	ExAC,TOPMed,gnomAD
rs774005275	p.Arg1403Gly	missense variant	-	NC_000003.12:g.129566002G>C	ExAC,TOPMed,gnomAD
rs144355531	p.Met1406Val	missense variant	-	NC_000003.12:g.129565993T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs144355531	p.Met1406Leu	missense variant	-	NC_000003.12:g.129565993T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1411673763	p.Glu1407Gly	missense variant	-	NC_000003.12:g.129565989T>C	TOPMed
COSM3587238	p.Glu1408Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565987C>T	NCI-TCGA Cosmic
rs1311592465	p.Glu1408Asp	missense variant	-	NC_000003.12:g.129565985C>G	TOPMed
rs769773155	p.Ile1410Val	missense variant	-	NC_000003.12:g.129565981T>C	ExAC,TOPMed,gnomAD
rs2625973	p.Leu1412Met	missense variant	-	NC_000003.12:g.129565975A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2625973	p.Leu1412Val	missense variant	-	NC_000003.12:g.129565975A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2625973	p.Leu1412Val	missense variant	-	NC_000003.12:g.129565975A>C	UniProt,dbSNP
VAR_056724	p.Leu1412Val	missense variant	-	NC_000003.12:g.129565975A>C	UniProt
COSM4859453	p.Leu1412Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565974A>G	NCI-TCGA Cosmic
rs781284587	p.Ser1414Phe	missense variant	-	NC_000003.12:g.129565968G>A	ExAC,TOPMed,gnomAD
rs1160160572	p.Ser1415Pro	missense variant	-	NC_000003.12:g.129565966A>G	gnomAD
rs1306099194	p.Ser1415Leu	missense variant	-	NC_000003.12:g.129565965G>A	TOPMed
COSM4113370	p.Leu1416Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565962A>G	NCI-TCGA Cosmic
rs751747073	p.Leu1417Val	missense variant	-	NC_000003.12:g.129565960G>C	ExAC,gnomAD
rs777989365	p.Asn1418Asp	missense variant	-	NC_000003.12:g.129565957T>C	ExAC,gnomAD
rs758540360	p.His1421Pro	missense variant	-	NC_000003.12:g.129565947T>G	ExAC,gnomAD
rs765672196	p.Val1425Ile	missense variant	-	NC_000003.12:g.129565936C>T	ExAC,gnomAD
rs1208017383	p.Val1427Ile	missense variant	-	NC_000003.12:g.129565930C>T	TOPMed
rs754355224	p.Ala1429Thr	missense variant	-	NC_000003.12:g.129565924C>T	ExAC,TOPMed,gnomAD
rs766958166	p.Ala1429Val	missense variant	-	NC_000003.12:g.129565923G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu1431Val	missense variant	-	NC_000003.12:g.129565917T>A	NCI-TCGA
rs1299872046	p.Gln1432Glu	missense variant	-	NC_000003.12:g.129565915G>C	gnomAD
rs1427649723	p.Lys1434Gln	missense variant	-	NC_000003.12:g.129565909T>G	TOPMed
NCI-TCGA novel	p.Lys1434Asn	missense variant	-	NC_000003.12:g.129565907C>A	NCI-TCGA
rs763865454	p.Asp1435Asn	missense variant	-	NC_000003.12:g.129565906C>T	ExAC,gnomAD
rs762492313	p.Ala1437Val	missense variant	-	NC_000003.12:g.129565899G>A	ExAC,TOPMed,gnomAD
rs769541329	p.Val1438Ala	missense variant	-	NC_000003.12:g.129565896A>G	ExAC
rs868333327	p.Arg1439Cys	missense variant	-	NC_000003.12:g.129565894G>A	TOPMed,gnomAD
rs199911198	p.Arg1439His	missense variant	-	NC_000003.12:g.129565893C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1198146756	p.Asp1440Gly	missense variant	-	NC_000003.12:g.129565890T>C	TOPMed,gnomAD
rs1198146756	p.Asp1440Ala	missense variant	-	NC_000003.12:g.129565890T>G	TOPMed,gnomAD
rs747176885	p.Asp1440Asn	missense variant	-	NC_000003.12:g.129565891C>T	ExAC,TOPMed,gnomAD
rs747176885	p.Asp1440His	missense variant	-	NC_000003.12:g.129565891C>G	ExAC,TOPMed,gnomAD
rs1200258967	p.Cys1442Tyr	missense variant	-	NC_000003.12:g.129565536C>T	gnomAD
rs1217331466	p.Ser1446Leu	missense variant	-	NC_000003.12:g.129565524G>A	gnomAD
rs748404760	p.Ile1450Met	missense variant	-	NC_000003.12:g.129565511G>C	ExAC,TOPMed,gnomAD
rs773384628	p.Ile1450Val	missense variant	-	NC_000003.12:g.129565513T>C	ExAC,gnomAD
rs779220362	p.Ala1451Thr	missense variant	-	NC_000003.12:g.129565510C>T	ExAC,gnomAD
rs368069685	p.Ala1451Val	missense variant	-	NC_000003.12:g.129565509G>A	ESP,ExAC,TOPMed,gnomAD
rs780259165	p.His1453Gln	missense variant	-	NC_000003.12:g.129565502G>T	ExAC,TOPMed,gnomAD
rs756682934	p.Gly1454Ser	missense variant	-	NC_000003.12:g.129565501C>T	ExAC,gnomAD
COSM4113368	p.Gly1454Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565500C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu1456ThrLeuTerGluThrSerLeuAlaVal	stop gained	-	NC_000003.12:g.129565493_129565494insACTGCAAGACTTGTCTCCTACAGAGTA	NCI-TCGA
COSM3774509	p.Glu1457Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565490C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1457Ter	frameshift	-	NC_000003.12:g.129565492_129565493insA	NCI-TCGA
rs1366987523	p.Tyr1458Cys	missense variant	-	NC_000003.12:g.129565488T>C	gnomAD
rs763680290	p.Ser1461Asn	missense variant	-	NC_000003.12:g.129565479C>T	ExAC,gnomAD
rs1240397688	p.Lys1464Glu	missense variant	-	NC_000003.12:g.129565471T>C	gnomAD
NCI-TCGA novel	p.Glu1465Val	missense variant	-	NC_000003.12:g.129565467T>A	NCI-TCGA
rs1165806692	p.Val1468Glu	missense variant	-	NC_000003.12:g.129565458A>T	TOPMed
rs1410420620	p.Leu1470Phe	missense variant	-	NC_000003.12:g.129565453G>A	gnomAD
rs1389101617	p.Ile1471Thr	missense variant	-	NC_000003.12:g.129565449A>G	TOPMed
NCI-TCGA novel	p.Ile1471Val	missense variant	-	NC_000003.12:g.129565450T>C	NCI-TCGA
rs1229559163	p.Ala1473Val	missense variant	-	NC_000003.12:g.129565443G>A	TOPMed,gnomAD
rs759179980	p.Ala1473Thr	missense variant	-	NC_000003.12:g.129565444C>T	ExAC,gnomAD
rs1353620974	p.Ser1474Trp	missense variant	-	NC_000003.12:g.129565440G>C	TOPMed,gnomAD
rs1353620974	p.Ser1474Leu	missense variant	-	NC_000003.12:g.129565440G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Ala1475Val	missense variant	-	NC_000003.12:g.129565437G>A	NCI-TCGA
rs551080661	p.Ala1476Thr	missense variant	-	NC_000003.12:g.129565435C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs551080661	p.Ala1476Pro	missense variant	-	NC_000003.12:g.129565435C>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM1418846	p.Lys1477Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565430C>A	NCI-TCGA Cosmic
rs1445686401	p.Pro1479Leu	missense variant	-	NC_000003.12:g.129565425G>A	gnomAD
rs1445686401	p.Pro1479Arg	missense variant	-	NC_000003.12:g.129565425G>C	gnomAD
rs761918376	p.Lys1480Asn	missense variant	-	NC_000003.12:g.129565421C>G	ExAC,TOPMed,gnomAD
rs1229383802	p.Leu1481Phe	missense variant	-	NC_000003.12:g.129565420G>A	TOPMed
rs867012218	p.Arg1484Trp	missense variant	-	NC_000003.12:g.129565411G>A	TOPMed
COSM4819600	p.Arg1484Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129565410C>T	NCI-TCGA Cosmic
rs1388658515	p.Arg1485Leu	missense variant	-	NC_000003.12:g.129565407C>A	gnomAD
rs774569045	p.Arg1485Cys	missense variant	-	NC_000003.12:g.129565408G>A	ExAC,TOPMed,gnomAD
rs1388658515	p.Arg1485His	missense variant	-	NC_000003.12:g.129565407C>T	gnomAD
rs769048392	p.Val1489Leu	missense variant	-	NC_000003.12:g.129565396C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1491Ter	stop gained	-	NC_000003.12:g.129565390C>A	NCI-TCGA
rs1440562999	p.Met1493Val	missense variant	-	NC_000003.12:g.129565384T>C	gnomAD
rs1279886575	p.Met1493Ile	missense variant	-	NC_000003.12:g.129565382C>T	TOPMed
rs780496951	p.Asn1496His	missense variant	-	NC_000003.12:g.129565375T>G	ExAC,gnomAD
rs770002175	p.Met1498Ile	missense variant	-	NC_000003.12:g.129565367C>A	ExAC,gnomAD
rs1224389924	p.Met1502Val	missense variant	-	NC_000003.12:g.129565357T>C	gnomAD
rs1449442726	p.Met1502Ile	missense variant	-	NC_000003.12:g.129565355C>T	gnomAD
rs1444497790	p.Ser1504Asn	missense variant	-	NC_000003.12:g.129565350C>T	TOPMed
rs746397734	p.Cys1505Tyr	missense variant	-	NC_000003.12:g.129565347C>T	ExAC,TOPMed,gnomAD
rs746397734	p.Cys1505Ser	missense variant	-	NC_000003.12:g.129565347C>G	ExAC,TOPMed,gnomAD
rs766606211	p.Arg1507Gln	missense variant	-	NC_000003.12:g.129565341C>T	TOPMed,gnomAD
rs1355417416	p.Arg1507Trp	missense variant	-	NC_000003.12:g.129565342G>A	gnomAD
rs377455226	p.Thr1509Met	missense variant	-	NC_000003.12:g.129563236G>A	ESP,ExAC,TOPMed,gnomAD
rs750243218	p.Glu1512Asp	missense variant	-	NC_000003.12:g.129563226C>G	ExAC,TOPMed,gnomAD
COSM5834546	p.Pro1513HisPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129563224G>-	NCI-TCGA Cosmic
rs1406442487	p.Ile1521Thr	missense variant	-	NC_000003.12:g.129563200A>G	gnomAD
rs1293543085	p.Ile1521Val	missense variant	-	NC_000003.12:g.129563201T>C	gnomAD
rs751491679	p.Gln1524Glu	missense variant	-	NC_000003.12:g.129563192G>C	ExAC,gnomAD
rs865925326	p.Ile1525Met	missense variant	-	NC_000003.12:g.129563187G>C	gnomAD
rs1390903811	p.Lys1527Asn	missense variant	-	NC_000003.12:g.129563181C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1529Phe	missense variant	-	NC_000003.12:g.129563176G>A	NCI-TCGA
rs765431674	p.Ala1532Val	missense variant	-	NC_000003.12:g.129563167G>A	ExAC,TOPMed,gnomAD
rs1467653750	p.Ala1532Thr	missense variant	-	NC_000003.12:g.129563168C>T	gnomAD
NCI-TCGA novel	p.Thr1534Arg	missense variant	-	NC_000003.12:g.129563161G>C	NCI-TCGA
rs767543021	p.Arg1538His	missense variant	-	NC_000003.12:g.129563149C>T	ExAC,TOPMed,gnomAD
rs181182268	p.Arg1538Ser	missense variant	-	NC_000003.12:g.129563150G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs181182268	p.Arg1538Cys	missense variant	-	NC_000003.12:g.129563150G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs765232687	p.Thr1540ThrTer	stop gained	-	NC_000003.12:g.129563142_129563143insTAC	ExAC,gnomAD
rs2713625	p.Ser1542Asn	missense variant	-	NC_000003.12:g.129563137C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2713625	p.Ser1542Ile	missense variant	-	NC_000003.12:g.129563137C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1322387238	p.Arg1548Gln	missense variant	-	NC_000003.12:g.129563119C>T	gnomAD
rs779602281	p.Arg1548Trp	missense variant	-	NC_000003.12:g.129563120G>A	ExAC,gnomAD
NCI-TCGA novel	p.Arg1548Leu	missense variant	-	NC_000003.12:g.129563119C>A	NCI-TCGA
rs755762007	p.Glu1549Asp	missense variant	-	NC_000003.12:g.129563115C>G	ExAC,gnomAD
NCI-TCGA novel	p.Asn1550Lys	missense variant	-	NC_000003.12:g.129563112G>T	NCI-TCGA
NCI-TCGA novel	p.Asn1550Ser	missense variant	-	NC_000003.12:g.129563113T>C	NCI-TCGA
NCI-TCGA novel	p.Ile1551Met	missense variant	-	NC_000003.12:g.129563109G>C	NCI-TCGA
rs757059098	p.Glu1552Lys	missense variant	-	NC_000003.12:g.129563108C>T	ExAC,TOPMed,gnomAD
rs751544605	p.Ala1553Thr	missense variant	-	NC_000003.12:g.129563105C>T	ExAC,TOPMed,gnomAD
rs1448672576	p.Lys1554Asn	missense variant	-	NC_000003.12:g.129563100C>A	gnomAD
COSM4398077	p.Pro1555Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129563099G>A	NCI-TCGA Cosmic
rs758339726	p.Arg1556Trp	missense variant	-	NC_000003.12:g.129563096G>A	ExAC,TOPMed,gnomAD
rs373701738	p.Arg1556Gln	missense variant	-	NC_000003.12:g.129563095C>T	ESP,ExAC,TOPMed,gnomAD
rs762249042	p.Val1560Met	missense variant	-	NC_000003.12:g.129562934C>T	ExAC,gnomAD
rs141042157	p.Gly1564Ser	missense variant	-	NC_000003.12:g.129562922C>T	ESP,ExAC,gnomAD
rs759181416	p.Cys1565Tyr	missense variant	-	NC_000003.12:g.129562918C>T	ExAC,TOPMed,gnomAD
rs372633629	p.Gly1566Asp	missense variant	-	NC_000003.12:g.129562915C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372633629	p.Gly1566Val	missense variant	-	NC_000003.12:g.129562915C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372633629	p.Gly1566Ala	missense variant	-	NC_000003.12:g.129562915C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs777464518	p.Met1567Val	missense variant	-	NC_000003.12:g.129562913T>C	ExAC,TOPMed,gnomAD
rs777464518	p.Met1567Leu	missense variant	-	NC_000003.12:g.129562913T>A	ExAC,TOPMed,gnomAD
rs771856633	p.Ser1569Leu	missense variant	-	NC_000003.12:g.129562906G>A	ExAC,gnomAD
rs754906198	p.Val1572Met	missense variant	-	NC_000003.12:g.129562898C>T	ExAC,TOPMed,gnomAD
COSM3587236	p.Val1572Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129562898C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Val1572Gly	missense variant	-	NC_000003.12:g.129562897A>C	NCI-TCGA
rs753978969	p.Arg1573Trp	missense variant	-	NC_000003.12:g.129562895G>A	ExAC
rs949896624	p.Arg1573Gln	missense variant	-	NC_000003.12:g.129562894C>T	TOPMed
rs1263133622	p.Met1575Arg	missense variant	-	NC_000003.12:g.129562888A>C	TOPMed
rs1175592112	p.Met1575Ile	missense variant	-	NC_000003.12:g.129562887C>T	TOPMed,gnomAD
rs1428970424	p.Asp1578Asn	missense variant	-	NC_000003.12:g.129562880C>T	TOPMed
rs1263992633	p.Thr1579Met	missense variant	-	NC_000003.12:g.129562876G>A	gnomAD
rs948179840	p.Leu1580Val	missense variant	-	NC_000003.12:g.129562874G>C	TOPMed,gnomAD
COSM6026878	p.Gln1582His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129562866C>A	NCI-TCGA Cosmic
rs1347534380	p.Cys1592Phe	missense variant	-	NC_000003.12:g.129562837C>A	gnomAD
rs1402998210	p.Val1595Met	missense variant	-	NC_000003.12:g.129562829C>T	TOPMed
rs1334369379	p.Trp1600Cys	missense variant	-	NC_000003.12:g.129562812C>A	gnomAD
rs1325523702	p.Trp1600Arg	missense variant	-	NC_000003.12:g.129562814A>G	gnomAD
rs549172886	p.Pro1601Leu	missense variant	-	NC_000003.12:g.129562810G>A	1000Genomes,ExAC,gnomAD
rs376955586	p.Arg1602Pro	missense variant	-	NC_000003.12:g.129562807C>G	ESP,TOPMed,gnomAD
rs376955586	p.Arg1602His	missense variant	-	NC_000003.12:g.129562807C>T	ESP,TOPMed,gnomAD
rs776316098	p.Ala1603Val	missense variant	-	NC_000003.12:g.129562804G>A	ExAC,TOPMed,gnomAD
rs1261365512	p.Asp1605Asn	missense variant	-	NC_000003.12:g.129562799C>T	TOPMed
rs201851084	p.Val1606Ile	missense variant	-	NC_000003.12:g.129562796C>T	ESP,ExAC,TOPMed,gnomAD
rs1480934691	p.Asp1607Glu	missense variant	-	NC_000003.12:g.129562791G>T	TOPMed
rs748045344	p.Asp1607Asn	missense variant	-	NC_000003.12:g.129562793C>T	ExAC,TOPMed,gnomAD
rs1462977700	p.Leu1608Phe	missense variant	-	NC_000003.12:g.129562790G>A	gnomAD
rs747155254	p.Trp1610Cys	missense variant	-	NC_000003.12:g.129561899C>A	ExAC,gnomAD
rs372292093	p.Ala1612Thr	missense variant	-	NC_000003.12:g.129561895C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1298671675	p.Ala1612Val	missense variant	-	NC_000003.12:g.129561894G>A	TOPMed
rs1414858788	p.Thr1615Arg	missense variant	-	NC_000003.12:g.129561885G>C	gnomAD
rs1362361732	p.Gln1616His	missense variant	-	NC_000003.12:g.129561881C>G	TOPMed
rs755430677	p.Tyr1618Cys	missense variant	-	NC_000003.12:g.129561876T>C	ExAC,gnomAD
rs749999598	p.Ile1619Met	missense variant	-	NC_000003.12:g.129561872G>C	ExAC,gnomAD
rs202179801	p.Leu1620Val	missense variant	-	NC_000003.12:g.129561871G>C	1000Genomes,ExAC,TOPMed
rs759954775	p.Arg1621Gln	missense variant	-	NC_000003.12:g.129561867C>T	ExAC,TOPMed,gnomAD
rs927967550	p.Asp1625Asn	missense variant	-	NC_000003.12:g.129561856C>T	TOPMed
NCI-TCGA novel	p.Ser1627Leu	missense variant	-	NC_000003.12:g.129561849G>A	NCI-TCGA
rs1267792615	p.Val1628Glu	missense variant	-	NC_000003.12:g.129561846A>T	TOPMed,gnomAD
rs763881080	p.Val1628Leu	missense variant	-	NC_000003.12:g.129561847C>G	ExAC,gnomAD
rs995504168	p.Val1629Leu	missense variant	-	NC_000003.12:g.129561844C>G	gnomAD
rs995504168	p.Val1629Met	missense variant	-	NC_000003.12:g.129561844C>T	gnomAD
rs1281886100	p.Glu1630Lys	missense variant	-	NC_000003.12:g.129561841C>T	gnomAD
rs1239502872	p.Gly1632Ser	missense variant	-	NC_000003.12:g.129561835C>T	TOPMed
rs769768899	p.Arg1633His	missense variant	-	NC_000003.12:g.129561831C>T	ExAC,TOPMed,gnomAD
rs775250489	p.Arg1633Cys	missense variant	-	NC_000003.12:g.129561832G>A	ExAC,TOPMed,gnomAD
rs769768899	p.Arg1633Leu	missense variant	-	NC_000003.12:g.129561831C>A	ExAC,TOPMed,gnomAD
rs775250489	p.Arg1633Gly	missense variant	-	NC_000003.12:g.129561832G>C	ExAC,TOPMed,gnomAD
rs1406900579	p.Lys1634Glu	missense variant	-	NC_000003.12:g.129561829T>C	gnomAD
rs759357483	p.Lys1634Thr	missense variant	-	NC_000003.12:g.129561828T>G	ExAC,gnomAD
rs966927392	p.Thr1638Met	missense variant	-	NC_000003.12:g.129561816G>A	TOPMed
rs1157403299	p.Ala1640Val	missense variant	-	NC_000003.12:g.129561810G>A	gnomAD
rs1465255354	p.Gly1647Asp	missense variant	-	NC_000003.12:g.129561699C>T	TOPMed
rs749816078	p.Gly1647Cys	missense variant	-	NC_000003.12:g.129561700C>A	ExAC,TOPMed,gnomAD
rs1383711525	p.Ala1648Ser	missense variant	-	NC_000003.12:g.129561697C>A	gnomAD
rs1317623531	p.Ala1648Val	missense variant	-	NC_000003.12:g.129561696G>A	gnomAD
rs146413906	p.Met1652Val	missense variant	-	NC_000003.12:g.129561685T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1379121283	p.Leu1654Pro	missense variant	-	NC_000003.12:g.129561678A>G	TOPMed
rs201683490	p.Leu1654Ile	missense variant	-	NC_000003.12:g.129561679G>T	1000Genomes,gnomAD
rs201683490	p.Leu1654Phe	missense variant	-	NC_000003.12:g.129561679G>A	1000Genomes,gnomAD
rs1332608650	p.Ile1655Val	missense variant	-	NC_000003.12:g.129561676T>C	TOPMed,gnomAD
rs756631040	p.Ile1655Thr	missense variant	-	NC_000003.12:g.129561675A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp1656Asn	missense variant	-	NC_000003.12:g.129561673C>T	NCI-TCGA
rs1352256671	p.Lys1657Glu	missense variant	-	NC_000003.12:g.129561670T>C	gnomAD
rs1169054501	p.Asp1659Glu	missense variant	-	NC_000003.12:g.129561662G>T	TOPMed,gnomAD
rs777229757	p.Arg1664Pro	missense variant	-	NC_000003.12:g.129561648C>G	ExAC,TOPMed,gnomAD
rs777229757	p.Arg1664Gln	missense variant	-	NC_000003.12:g.129561648C>T	ExAC,TOPMed,gnomAD
rs1405609829	p.Arg1664Ter	stop gained	-	NC_000003.12:g.129561649G>A	gnomAD
rs1261767930	p.Lys1666Asn	missense variant	-	NC_000003.12:g.129560719T>G	gnomAD
NCI-TCGA novel	p.Glu1671Ter	stop gained	-	NC_000003.12:g.129560706C>A	NCI-TCGA
rs775744687	p.Lys1672Asn	missense variant	-	NC_000003.12:g.129560701C>G	ExAC,gnomAD
rs1325433260	p.Lys1672Thr	missense variant	-	NC_000003.12:g.129560702T>G	gnomAD
rs200252007	p.Leu1678Met	missense variant	-	NC_000003.12:g.129560431G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1349947927	p.Pro1679Ser	missense variant	-	NC_000003.12:g.129560428G>A	gnomAD
COSM3587234	p.Pro1679Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129560427G>A	NCI-TCGA Cosmic
rs142517704	p.Thr1680Ala	missense variant	-	NC_000003.12:g.129560425T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs569800532	p.Thr1680Met	missense variant	-	NC_000003.12:g.129560424G>A	ExAC,TOPMed,gnomAD
COSM4113359	p.Asp1681Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129560421T>C	NCI-TCGA Cosmic
rs199508041	p.Ala1684Val	missense variant	-	NC_000003.12:g.129560412G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758434379	p.Glu1685Lys	missense variant	-	NC_000003.12:g.129560410C>T	ExAC,gnomAD
rs988003280	p.Pro1686Ser	missense variant	-	NC_000003.12:g.129560407G>A	TOPMed
rs752712168	p.Lys1687Arg	missense variant	-	NC_000003.12:g.129560403T>C	ExAC,gnomAD
rs1369644563	p.Ser1689Ala	missense variant	-	NC_000003.12:g.129560398A>C	TOPMed,gnomAD
COSM3846170	p.His1690Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129560395G>A	NCI-TCGA Cosmic
rs201100072	p.Arg1691Gln	missense variant	-	NC_000003.12:g.129560391C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201100072	p.Arg1691Pro	missense variant	-	NC_000003.12:g.129560391C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs139940603	p.Arg1691Trp	missense variant	-	NC_000003.12:g.129560392G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761108683	p.His1694Arg	missense variant	-	NC_000003.12:g.129560382T>C	ExAC,TOPMed,gnomAD
rs569306898	p.Arg1695Pro	missense variant	-	NC_000003.12:g.129560379C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs768056731	p.Arg1695Cys	missense variant	-	NC_000003.12:g.129560380G>A	ExAC,gnomAD
rs569306898	p.Arg1695His	missense variant	-	NC_000003.12:g.129560379C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs768056731	p.Arg1695Ser	missense variant	-	NC_000003.12:g.129560380G>T	ExAC,gnomAD
rs1363757320	p.Lys1696Arg	missense variant	-	NC_000003.12:g.129560376T>C	gnomAD
rs1208037803	p.Pro1700Leu	missense variant	-	NC_000003.12:g.129560364G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu1701Ter	stop gained	-	NC_000003.12:g.129560362C>A	NCI-TCGA
rs557479575	p.Ile1702Met	missense variant	-	NC_000003.12:g.129560357G>C	1000Genomes,ExAC,gnomAD
rs781156209	p.Tyr1703Ser	missense variant	-	NC_000003.12:g.129560355T>G	ExAC,gnomAD
rs781156209	p.Tyr1703Cys	missense variant	-	NC_000003.12:g.129560355T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu1704Met	missense variant	-	NC_000003.12:g.129560353G>T	NCI-TCGA
rs770697868	p.Thr1705Pro	missense variant	-	NC_000003.12:g.129560350T>G	ExAC
rs746921963	p.Arg1706Cys	missense variant	-	NC_000003.12:g.129560347G>A	ExAC,TOPMed,gnomAD
rs1181675307	p.Gly1712Ser	missense variant	-	NC_000003.12:g.129559783C>T	gnomAD
COSM1418845	p.Thr1713Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129559779G>A	NCI-TCGA Cosmic
rs1205245553	p.Gln1715His	missense variant	-	NC_000003.12:g.129559772C>A	gnomAD
rs749517878	p.Lys1723Glu	missense variant	-	NC_000003.12:g.129559750T>C	ExAC,TOPMed,gnomAD
rs780392506	p.Leu1726Val	missense variant	-	NC_000003.12:g.129559741G>C	ExAC,gnomAD
rs756279893	p.Ser1727Asn	missense variant	-	NC_000003.12:g.129559737C>T	ExAC,gnomAD
rs767733014	p.Arg1729Cys	missense variant	-	NC_000003.12:g.129559732G>A	ExAC,TOPMed,gnomAD
rs767733014	p.Arg1729Gly	missense variant	-	NC_000003.12:g.129559732G>C	ExAC,TOPMed,gnomAD
rs552444549	p.Arg1729His	missense variant	-	NC_000003.12:g.129559731C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1023214704	p.Glu1730Gly	missense variant	-	NC_000003.12:g.129559728T>C	TOPMed,gnomAD
COSM5744789	p.Pro1734HisPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129559716G>-	NCI-TCGA Cosmic
rs759179648	p.Ala1736Ser	missense variant	-	NC_000003.12:g.129559711C>A	ExAC,TOPMed,gnomAD
rs1344215838	p.Val1737Ile	missense variant	-	NC_000003.12:g.129559708C>T	TOPMed
rs1425141846	p.Tyr1739Phe	missense variant	-	NC_000003.12:g.129559701T>A	TOPMed,gnomAD
rs776264739	p.Phe1741Leu	missense variant	-	NC_000003.12:g.129559694G>T	ExAC,TOPMed,gnomAD
rs766102747	p.Asp1742Asn	missense variant	-	NC_000003.12:g.129559693C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln1747Ter	stop gained	-	NC_000003.12:g.129559678G>A	NCI-TCGA
NCI-TCGA novel	p.Gln1747Glu	missense variant	-	NC_000003.12:g.129559678G>C	NCI-TCGA
rs773093911	p.Ala1748Ser	missense variant	-	NC_000003.12:g.129559675C>A	ExAC,gnomAD
COSM6054238	p.Glu1749Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129559672C>T	NCI-TCGA Cosmic
COSM4861592	p.Lys1750Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129559667C>A	NCI-TCGA Cosmic
rs749429932	p.Asp1755Asn	missense variant	-	NC_000003.12:g.129559654C>T	ExAC,TOPMed,gnomAD
COSM3587230	p.Pro1756Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129559650G>A	NCI-TCGA Cosmic
rs1308315945	p.Asp1757Gly	missense variant	-	NC_000003.12:g.129559647T>C	gnomAD
rs781629375	p.Asp1757Asn	missense variant	-	NC_000003.12:g.129559648C>T	ExAC,TOPMed,gnomAD
COSM4113355	p.Arg1770Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129558564C>T	NCI-TCGA Cosmic
rs368778823	p.Asn1774Ser	missense variant	-	NC_000003.12:g.129558552T>C	ESP,ExAC,gnomAD
rs368778823	p.Asn1774Thr	missense variant	-	NC_000003.12:g.129558552T>G	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Ile1775Leu	missense variant	-	NC_000003.12:g.129558550T>G	NCI-TCGA
NCI-TCGA novel	p.Gln1780Arg	missense variant	-	NC_000003.12:g.129558534T>C	NCI-TCGA
rs574730592	p.Val1782Ile	missense variant	-	NC_000003.12:g.129558529C>T	1000Genomes,gnomAD
rs763877206	p.Asp1786Val	missense variant	-	NC_000003.12:g.129558516T>A	ExAC,gnomAD
rs751152442	p.Asp1786Asn	missense variant	-	NC_000003.12:g.129558517C>T	ExAC,TOPMed,gnomAD
rs1373817428	p.Lys1787Gln	missense variant	-	NC_000003.12:g.129558514T>G	gnomAD
rs1170917023	p.Thr1788Ile	missense variant	-	NC_000003.12:g.129558510G>A	gnomAD
rs1406760522	p.Asp1789Val	missense variant	-	NC_000003.12:g.129558507T>A	TOPMed
rs752522859	p.His1790Tyr	missense variant	-	NC_000003.12:g.129558505G>A	ExAC,TOPMed,gnomAD
rs765136044	p.Asp1792Asn	missense variant	-	NC_000003.12:g.129558499C>T	ExAC,gnomAD
COSM1221311	p.Ala1793Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129558496C>T	NCI-TCGA Cosmic
rs758843755	p.Ile1798Val	missense variant	-	NC_000003.12:g.129558481T>C	ExAC,TOPMed,gnomAD
rs934917359	p.Ile1798Asn	missense variant	-	NC_000003.12:g.129558480A>T	TOPMed
rs766519168	p.Ala1799Thr	missense variant	-	NC_000003.12:g.129558478C>T	ExAC,TOPMed,gnomAD
rs1321340868	p.Ala1799Val	missense variant	-	NC_000003.12:g.129558477G>A	gnomAD
rs772420249	p.Ala1801Val	missense variant	-	NC_000003.12:g.129558471G>A	ExAC,gnomAD
rs774760116	p.Phe1802Leu	missense variant	-	NC_000003.12:g.129558469A>G	ExAC,gnomAD
rs1332312348	p.Ala1805Thr	missense variant	-	NC_000003.12:g.129558460C>T	TOPMed,gnomAD
COSM4113353	p.Cys1806Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129558456C>A	NCI-TCGA Cosmic
rs1291177579	p.Ile1808Val	missense variant	-	NC_000003.12:g.129558451T>C	TOPMed
rs1180045564	p.Asp1810His	missense variant	-	NC_000003.12:g.129558445C>G	TOPMed
rs1170700831	p.Lys1815Gln	missense variant	-	NC_000003.12:g.129558430T>G	TOPMed,gnomAD
rs754736004	p.Asn1820Ser	missense variant	-	NC_000003.12:g.129557210T>C	ExAC,gnomAD
rs756103173	p.Ala1825Ser	missense variant	-	NC_000003.12:g.129557196C>A	ExAC,gnomAD
rs750575164	p.Lys1826Arg	missense variant	-	NC_000003.12:g.129557192T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1827Asp	missense variant	-	NC_000003.12:g.129557188C>G	NCI-TCGA
rs767597661	p.Pro1829Arg	missense variant	-	NC_000003.12:g.129557183G>C	ExAC,gnomAD
rs138406166	p.Arg1832Gln	missense variant	-	NC_000003.12:g.129557174C>T	ESP,TOPMed,gnomAD
rs751735983	p.Arg1832Trp	missense variant	-	NC_000003.12:g.129557175G>A	ExAC,gnomAD
rs763362928	p.Lys1833Glu	missense variant	-	NC_000003.12:g.129557172T>C	ExAC,gnomAD
rs775805093	p.Ile1834Thr	missense variant	-	NC_000003.12:g.129557168A>G	ExAC,gnomAD
COSM1670556	p.Val1835Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129557166C>T	NCI-TCGA Cosmic
rs772619539	p.Arg1837Gly	missense variant	-	NC_000003.12:g.129557160G>C	ExAC,TOPMed,gnomAD
rs772619539	p.Arg1837Ser	missense variant	-	NC_000003.12:g.129557160G>T	ExAC,TOPMed,gnomAD
rs772619539	p.Arg1837Cys	missense variant	-	NC_000003.12:g.129557160G>A	ExAC,TOPMed,gnomAD
rs147446993	p.Arg1837His	missense variant	-	NC_000003.12:g.129557159C>T	1000Genomes,ESP,ExAC,gnomAD
rs1159138789	p.Tyr1838Ter	stop gained	-	NC_000003.12:g.129557155G>C	TOPMed
NCI-TCGA novel	p.Tyr1838Cys	missense variant	-	NC_000003.12:g.129557156T>C	NCI-TCGA
rs1455704758	p.Lys1840Glu	missense variant	-	NC_000003.12:g.129557151T>C	TOPMed
COSM6096290	p.Lys1840Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000003.12:g.129557151T>A	NCI-TCGA Cosmic
rs1202815298	p.Gln1841His	missense variant	-	NC_000003.12:g.129557146C>A	gnomAD
rs1292085362	p.Thr1846Ala	missense variant	-	NC_000003.12:g.129557133T>C	TOPMed
rs141415531	p.Thr1846Met	missense variant	-	NC_000003.12:g.129557132G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768410974	p.Pro1847Leu	missense variant	-	NC_000003.12:g.129557129G>A	ExAC,gnomAD
rs200538768	p.Glu1850Asp	missense variant	-	NC_000003.12:g.129557119C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs886392748	p.Glu1850Lys	missense variant	-	NC_000003.12:g.129557121C>T	TOPMed
rs1245924801	p.His1856Tyr	missense variant	-	NC_000003.12:g.129557103G>A	gnomAD
rs1266131248	p.Glu1859Lys	missense variant	-	NC_000003.12:g.129557094C>T	TOPMed,gnomAD
rs779156611	p.Glu1860Ter	stop gained	-	NC_000003.12:g.129557091C>A	ExAC,gnomAD
rs779156611	p.Glu1860Lys	missense variant	-	NC_000003.12:g.129557091C>T	ExAC,gnomAD
rs764422118	p.Glu1860Ala	missense variant	-	NC_000003.12:g.129557090T>G	ExAC,gnomAD
rs148310936	p.Ser1861Thr	missense variant	-	NC_000003.12:g.129557088A>T	ESP,TOPMed,gnomAD
rs1279339390	p.Ser1861Leu	missense variant	-	NC_000003.12:g.129557087G>A	gnomAD
rs1228073867	p.Lys1863Arg	missense variant	-	NC_000003.12:g.129556690T>C	gnomAD
rs200118477	p.Asn1871Ser	missense variant	-	NC_000003.12:g.129556666T>C	ExAC,TOPMed,gnomAD
rs1377815757	p.Val1872Met	missense variant	-	NC_000003.12:g.129556664C>T	gnomAD
NCI-TCGA novel	p.Ala1873Thr	missense variant	-	NC_000003.12:g.129556661C>T	NCI-TCGA
rs763650918	p.Met1874Val	missense variant	-	NC_000003.12:g.129556658T>C	ExAC,gnomAD
COSM4919715	p.Met1874Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129556657A>G	NCI-TCGA Cosmic
rs1411303642	p.Glu1876Gly	missense variant	-	NC_000003.12:g.129556651T>C	gnomAD
rs138395396	p.Ile1877Val	missense variant	-	NC_000003.12:g.129556649T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile1877Met	missense variant	-	NC_000003.12:g.129556647A>C	NCI-TCGA
rs199820673	p.Ala1881Thr	missense variant	-	NC_000003.12:g.129556637C>T	1000Genomes,ExAC,gnomAD
rs1162590136	p.Ala1881Val	missense variant	-	NC_000003.12:g.129556636G>A	gnomAD
rs1423103264	p.Lys1882Arg	missense variant	-	NC_000003.12:g.129556633T>C	gnomAD
NCI-TCGA novel	p.Lys1882Asn	missense variant	-	NC_000003.12:g.129556632C>G	NCI-TCGA
rs746872800	p.Arg1883Lys	missense variant	-	NC_000003.12:g.129556630C>T	ExAC,gnomAD
rs1249852065	p.Tyr1884Cys	missense variant	-	NC_000003.12:g.129556627T>C	gnomAD
rs369952557	p.Arg1885Gln	missense variant	-	NC_000003.12:g.129556624C>T	ESP,ExAC,TOPMed,gnomAD
rs1204952483	p.Arg1885Trp	missense variant	-	NC_000003.12:g.129556625G>A	gnomAD
rs758404419	p.Pro1886Ser	missense variant	-	NC_000003.12:g.129556622G>A	ExAC,gnomAD
rs375183136	p.Pro1886Leu	missense variant	-	NC_000003.12:g.129556621G>A	ESP,ExAC,TOPMed,gnomAD
rs375183136	p.Pro1886Gln	missense variant	-	NC_000003.12:g.129556621G>T	ESP,ExAC,TOPMed,gnomAD
rs1379559176	p.Ala1890Val	missense variant	-	NC_000003.12:g.129556421G>A	gnomAD
COSM1418841	p.Ala1890Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000003.12:g.129556422C>T	NCI-TCGA Cosmic
rs140866535	p.Ala1891Val	missense variant	-	NC_000003.12:g.129556418G>A	ESP,ExAC,TOPMed,gnomAD
rs371220331	p.Ala1891Thr	missense variant	-	NC_000003.12:g.129556419C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1463885620	p.Asn1895Ser	missense variant	-	NC_000003.12:g.129556406T>C	gnomAD
rs544615153	p.Thr1897Met	missense variant	-	NC_000003.12:g.129556400G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1897ArgPheSerTerUnkUnk	frameshift	-	NC_000003.12:g.129556402G>-	NCI-TCGA
rs112866492	p.Arg1899Gln	missense variant	-	NC_000003.12:g.129556394C>T	ExAC,TOPMed,gnomAD
rs112866492	p.Arg1899Pro	missense variant	-	NC_000003.12:g.129556394C>G	ExAC,TOPMed,gnomAD
rs768565508	p.Arg1899Trp	missense variant	-	NC_000003.12:g.129556395G>A	ExAC,TOPMed,gnomAD
rs780210348	p.Arg1900Trp	missense variant	-	NC_000003.12:g.129556392T>A	ExAC,TOPMed,gnomAD
rs780210348	p.Arg1900Gly	missense variant	-	NC_000003.12:g.129556392T>C	ExAC,TOPMed,gnomAD
rs770033375	p.His1905Tyr	missense variant	-	NC_000003.12:g.129556377G>A	ExAC,gnomAD
rs746272659	p.Lys1906Arg	missense variant	-	NC_000003.12:g.129556373T>C	ExAC,gnomAD
rs897217198	p.Phe1907Leu	missense variant	-	NC_000003.12:g.129556369A>C	TOPMed
rs1317773942	p.Val1910Met	missense variant	-	NC_000003.12:g.129556362C>T	gnomAD
rs1396658236	p.Val1911Leu	missense variant	-	NC_000003.12:g.129556359C>A	gnomAD
NCI-TCGA novel	p.Val1911Met	missense variant	-	NC_000003.12:g.129556359C>T	NCI-TCGA
rs1273908900	p.Ala1912Val	missense variant	-	NC_000003.12:g.129556355G>A	gnomAD
rs1301317112	p.Met1914Leu	missense variant	-	NC_000003.12:g.129556350T>A	gnomAD
rs1434271566	p.Glu1915Ala	missense variant	-	NC_000003.12:g.129556346T>G	gnomAD
rs1214374615	p.Asn1917Asp	missense variant	-	NC_000003.12:g.129556341T>C	TOPMed,gnomAD
rs1448234673	p.Asn1917Ser	missense variant	-	NC_000003.12:g.129556340T>C	gnomAD
rs1214374615	p.Asn1917Tyr	missense variant	-	NC_000003.12:g.129556341T>A	TOPMed,gnomAD
rs373152384	p.Ile1918Met	missense variant	-	NC_000003.12:g.129556336G>C	ESP,ExAC,TOPMed,gnomAD
rs754511395	p.Ile1918Val	missense variant	-	NC_000003.12:g.129556338T>C	ExAC,gnomAD
rs754511395	p.Ile1918Phe	missense variant	-	NC_000003.12:g.129556338T>A	ExAC,gnomAD
rs369498963	p.Tyr1919Ter	stop gained	-	NC_000003.12:g.129556333G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1253724057	p.Tyr1919Ser	missense variant	-	NC_000003.12:g.129556334T>G	gnomAD
rs775551154	p.Glu1920Lys	missense variant	-	NC_000003.12:g.129556332C>T	ExAC,TOPMed,gnomAD
rs1386115714	p.Tyr1922Cys	missense variant	-	NC_000003.12:g.129556325T>C	TOPMed
rs149917682	p.Ser1923Gly	missense variant	-	NC_000003.12:g.129556323T>C	ESP,ExAC,TOPMed,gnomAD
rs149917682	p.Ser1923Arg	missense variant	-	NC_000003.12:g.129556323T>G	ESP,ExAC,TOPMed,gnomAD
rs1345663752	p.Glu1924Lys	missense variant	-	NC_000003.12:g.129556320C>T	gnomAD
rs1344376648	p.Ala1925Ser	missense variant	-	NC_000003.12:g.129556317C>A	TOPMed
rs375560036	p.Ala1925Val	missense variant	-	NC_000003.12:g.129556316G>A	ESP,ExAC,TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0005745	Blepharoptosis	disease	HPO
C0006118	Brain Neoplasms	group	BEFREE
C0009081	Congenital clubfoot	disease	HPO
C0010038	Corneal Opacity	phenotype	HPO
C0011168	Deglutition Disorders	group	HPO
C0012236	DiGeorge Syndrome	disease	MGD
C0013274	Patent ductus arteriosus	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025202	melanoma	disease	BEFREE
C0026827	Muscle hypotonia	phenotype	HPO
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027962	Melanocytic nevus	disease	BEFREE
C0029089	Ophthalmoplegia	phenotype	HPO
C0031036	Polyarteritis Nodosa	disease	BEFREE
C0038379	Strabismus	disease	HPO
C0041207	Truncus Arteriosus, Persistent	disease	BEFREE;ORPHANET
C0178874	Tumor Progression	phenotype	BEFREE
C0220650	Metastatic malignant neoplasm to brain	disease	BEFREE
C0221060	Mobius Syndrome	disease	BEFREE;LHGDN;ORPHANET
C0221357	Brachydactyly	disease	HPO
C0240379	Open mouth (finding)	phenotype	HPO
C0280100	Solid Neoplasm	phenotype	BEFREE
C0376175	Bell Palsy	disease	HPO
C0424448	Mask-like facies	phenotype	HPO
C0427055	Facial Paresis	phenotype	HPO
C0521719	Clouding of corneal stroma	disease	HPO
C0562350	Hip circumference	phenotype	GWASCAT
C0853240	Mobius II syndrome	disease	ORPHANET
C1384494	Metastatic Carcinoma	group	BEFREE
C1519670	Tumor Angiogenesis	phenotype	BEFREE
C1658953	tumor vasculature	phenotype	BEFREE
C1853246	Everted lower lip vermilion	phenotype	HPO
C1854301	Motor delay	phenotype	HPO
C1858719	Facial muscle weakness of muscles innervated by CN VII	phenotype	HPO
C1866234	Protruding lower lip	phenotype	HPO
C2674608	Feeding difficulties in infancy	phenotype	HPO
C3887654	POLYARTERITIS NODOSA, CHILDHOOD-ONSET	disease	BEFREE
C4020874	No development of motor milestones	phenotype	HPO
C4021776	Abnormality of the voice	phenotype	HPO
C4024213	Aplasia of the pectoralis major muscle	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0017154	semaphorin receptor activity	ISS
GO:0017154	semaphorin receptor activity	IBA
GO:0019904	protein domain specific binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001525	angiogenesis	ISS
GO:0001569	branching involved in blood vessel morphogenesis	IEA
GO:0003151	outflow tract morphogenesis	IEA
GO:0003279	cardiac septum development	IEA
GO:0007162	negative regulation of cell adhesion	IBA
GO:0007221	positive regulation of transcription of Notch receptor target	TAS
GO:0007416	synapse assembly	ISS
GO:0008360	regulation of cell shape	IBA
GO:0030334	regulation of cell migration	ISS
GO:0030334	regulation of cell migration	IBA
GO:0032092	positive regulation of protein binding	IEA
GO:0035904	aorta development	IEA
GO:0043087	regulation of GTPase activity	IBA
GO:0043542	endothelial cell migration	ISS
GO:0043542	endothelial cell migration	IBA
GO:0045765	regulation of angiogenesis	ISS
GO:0050772	positive regulation of axonogenesis	IBA
GO:0060666	dichotomous subdivision of terminal units involved in salivary gland branching	IEA
GO:0060976	coronary vasculature development	IEA
GO:0071526	semaphorin-plexin signaling pathway	ISS
GO:1902287	semaphorin-plexin signaling pathway involved in axon guidance	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0002116	semaphorin receptor complex	IBA
GO:0005886	plasma membrane	TAS
GO:0005887	integral component of plasma membrane	ISS
GO:0005887	integral component of plasma membrane	IBA
GO:0030027	lamellipodium	IDA
GO:0031258	lamellipodium membrane	IEA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	TAS
R-HSA-157118	Signaling by NOTCH	TAS
R-HSA-162582	Signal Transduction	TAS
R-HSA-373755	Semaphorin interactions	TAS
R-HSA-416700	Other semaphorin interactions	TAS
R-HSA-422475	Axon guidance	TAS
R-HSA-9012852	Signaling by NOTCH3	TAS
R-HSA-9013508	NOTCH3 Intracellular Domain Regulates Transcription	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
C031763	1,3-butadiene	1,3-butadiene results in decreased expression of PLXND1 mRNA	29038090
D015655	1-Methyl-4-phenylpyridinium	1-Methyl-4-phenylpyridinium results in increased expression of PLXND1 mRNA	24810058
C548651	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester	2-(1'H-indole-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of PLXND1 mRNA	19933214
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PLXND1 mRNA	27188386
C496492	abrine	abrine results in decreased expression of PLXND1 mRNA	31054353
D020106	Acrylamide	Acrylamide results in decreased expression of PLXND1 mRNA	28959563
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of PLXND1 intron	30157460
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of PLXND1 intron	30157460
D000452	Aldrin	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in decreased expression of PLXND1 mRNA	28263720
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of PLXND1 mRNA	21298039
D001280	Atrazine	Atrazine affects the methylation of PLXND1 gene	28931070
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of PLXND1 intron	30157460
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased mutagenesis of PLXND1 gene	25435355
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of PLXND1 mRNA	19770486
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of PLXND1 intron	30157460
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of PLXND1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of PLXND1 mRNA	25047013
C006780	bisphenol A	bisphenol A results in increased expression of PLXND1 mRNA	30951980
C006780	bisphenol A	bisphenol A results in increased expression of PLXND1 mRNA	25181051; 29097150;
C006780	bisphenol A	bisphenol A results in increased methylation of PLXND1 gene	28505145
C000611646	bisphenol F	bisphenol F results in increased expression of PLXND1 mRNA	30951980
D002220	Carbamazepine	Carbamazepine affects the expression of PLXND1 mRNA	25979313
D002220	Carbamazepine	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in decreased expression of PLXND1 mRNA	22701549
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of PLXND1 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in decreased expression of PLXND1 mRNA	31150632
D002737	Chloroprene	Chloroprene results in decreased expression of PLXND1 mRNA	23125180
D002945	Cisplatin	Cisplatin results in decreased expression of PLXND1 mRNA	27392435
D002990	Clobetasol	Clobetasol results in decreased expression of PLXND1 mRNA	27462272
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of PLXND1 mRNA	19320972
D003375	Coumestrol	Coumestrol results in decreased expression of PLXND1 mRNA	19167446
D003634	DDT	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in decreased expression of PLXND1 mRNA	28263720
D003907	Dexamethasone	Dexamethasone results in increased expression of PLXND1 mRNA	12782123; 25047013;
D003632	Dichlorodiphenyldichloroethane	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in decreased expression of PLXND1 mRNA	28263720
D003633	Dichlorodiphenyl Dichloroethylene	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in decreased expression of PLXND1 mRNA	28263720
D003633	Dichlorodiphenyl Dichloroethylene	Dichlorodiphenyl Dichloroethylene results in decreased expression of PLXND1 mRNA	29554563
C000944	dicrotophos	dicrotophos results in increased expression of PLXND1 mRNA	28302478
D004026	Dieldrin	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in decreased expression of PLXND1 mRNA	28263720
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PLXND1 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of PLXND1 mRNA	29803840
D004726	Endosulfan	Endosulfan affects the expression of PLXND1 mRNA	29391264
D004732	Endrin	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in decreased expression of PLXND1 mRNA	28263720
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of PLXND1 mRNA	30165855
D000431	Ethanol	Ethanol affects the splicing of PLXND1 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of PLXND1 mRNA	30319688
C574336	excavatolide B	excavatolide B results in decreased expression of PLXND1 protein	26790859
D017313	Fenretinide	Fenretinide results in increased expression of PLXND1 mRNA	28973697
D005473	Fluoxetine	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in decreased expression of PLXND1 mRNA	22701549
D005839	Gentamicins	Gentamicins results in decreased expression of PLXND1 mRNA	22061828
C004312	glycidol	glycidol results in decreased expression of PLXND1 mRNA	24915197
D001556	Hexachlorocyclohexane	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in decreased expression of PLXND1 mRNA	28263720
D007545	Isoproterenol	Isoproterenol results in decreased expression of PLXND1 mRNA	20003209
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of PLXND1 mRNA	24796395
D007854	Lead	Lead results in decreased expression of PLXND1 mRNA	19921347
D008070	Lipopolysaccharides	Lipopolysaccharides results in increased expression of PLXND1 mRNA	27339419
D008701	Methapyrilene	Methapyrilene results in increased methylation of PLXND1 intron	30157460
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of PLXND1 mRNA	23458150
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of PLXND1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of PLXND1 mRNA	25554681; 25620056;
D018817	N-Methyl-3,4-methylenedioxyamphetamine	N-Methyl-3,4-methylenedioxyamphetamine results in increased expression of PLXND1 mRNA	20188158
C023036	perfluorooctanoic acid	perfluorooctanoic acid results in decreased expression of PLXND1 protein	26879310
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of PLXND1 mRNA	24780913
D020849	Raloxifene Hydrochloride	Raloxifene Hydrochloride results in increased expression of PLXND1 mRNA	19429434
D012834	Silver	Silver results in decreased expression of PLXND1 mRNA	27131904
D019821	Simvastatin	[Hexachlorocyclohexane co-treated with Aldrin co-treated with Dieldrin co-treated with Endrin co-treated with Dichlorodiphenyl Dichloroethylene co-treated with Dichlorodiphenyldichloroethane co-treated with DDT co-treated with Simvastatin] results in decreased expression of PLXND1 mRNA	28263720
D012906	Smoke	Smoke results in increased expression of PLXND1 mRNA	21095227
C017947	sodium arsenite	sodium arsenite results in decreased expression of and affects the splicing of PLXND1 mRNA	25879800
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of PLXND1 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of PLXND1 mRNA	28111298
D014212	Tretinoin	Tretinoin results in decreased expression of PLXND1 mRNA	23830798
D000077288	Troglitazone	Troglitazone results in decreased expression of PLXND1 mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of PLXND1 mRNA	30912803
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of PLXND1 mRNA	27188386
D014635	Valproic Acid	Valproic Acid affects the expression of PLXND1 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of PLXND1 mRNA	23179753; 24383497; 24935251; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased methylation of PLXND1 gene	29154799
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of PLXND1 gene	25560391
D000069470	Venlafaxine Hydrochloride	[Fluoxetine co-treated with Venlafaxine Hydrochloride co-treated with Carbamazepine] results in decreased expression of PLXND1 mRNA	22701549
D019287	Zinc Sulfate	Zinc Sulfate results in increased expression of PLXND1 mRNA	27504894

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0025	Alternative splicing
KW-0037	Angiogenesis
KW-1003	Cell membrane
KW-0966	Cell projection
KW-0217	Developmental protein
KW-1015	Disulfide bond
KW-0325	Glycoprotein
KW-0472	Membrane
KW-0621	Polymorphism
KW-0675	Receptor
KW-1185	Reference proteome
KW-0677	Repeat
KW-0732	Signal
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR013783	Ig-like_fold
IPR014756	Ig_E-set
IPR002909	IPT_dom
IPR031148	Plexin
IPR042719	Plexin-D1_Sema
IPR013548	Plexin_cytoplasmic_RasGAP_dom
IPR002165	Plexin_repeat
IPR016201	PSI
IPR008936	Rho_GTPase_activation_prot
IPR001627	Semap_dom
IPR036352	Semap_dom_sf
IPR041019	TIG1_plexin
IPR015943	WD40/YVTN_repeat-like_dom_sf

PROSITE

PROSITE ID	PROSITE Term
PS51004	SEMA

Pfam

Pfam ID	Pfam Term
PF08337	Plexin_cytopl
PF01437	PSI
PF01403	Sema
PF01833	TIG
PF17960	TIG_plexin

Gene: PLXND1

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction