CleftGeneDB-Search

Gene: SYNE3

Basic information

Tag	Content
Uniprot ID	Q6ZMZ3; A6H8H3; Q86SX5; Q8N7G8;
Entrez ID	161176
Genbank protein ID	BAD18582.1; CAD62365.1; BAC05312.1; AAI46605.1;
Genbank nucleotide ID	XM_005267377.3; NM_152592.4; XM_017021056.1; XM_006720063.3;
Ensembl protein ID	ENSP00000450562; ENSP00000334308; ENSP00000450774;
Ensembl nucleotide ID	ENSG00000176438
Gene name	Nesprin-3
Gene symbol	SYNE3
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26449438
Functional description	As a component of the LINC (LInker of Nucleoskeleton and Cytoskeleton) complex involved in the connection between the nuclear lamina and the cytoskeleton. The nucleocytoplasmic interactions established by the LINC complex play an important role in the transmission of mechanical forces across the nuclear envelope and in nuclear movement and positioning. Probable anchoring protein which tethers the nucleus to the cytoskeleton by binding PLEC which can associate with the intermediate filament system. Plays a role in the regulation of aortic epithelial cell morphology, and is required for flow-induced centrosome polarization and directional migration in aortic endothelial cells.
Sequence	MTQQPQDDFD RSVEDAQAWM KAVQDQLQVN DNTQGPRAAL EARLWETEKI CQLEPEGRVR 60 VDLVLRMAEA LLACCPGDQK PGILARLKDI KAQWEETVTY MTHCHSRIEW VWLHWSEYLL 120 ARDEFYRWFQ KMMVTLEPHI ELQLGLKEKQ WQLSHAQVLL HNVDNQAVLL DRLLEEAASL 180 FNRIGDPSVD EDAQKRMKAE YDAVKAKAQK RVDLLEQVAR EHEEYQAGVD EFQLWLKAVV 240 EKVNGCLGRN CKLPITQRLS TLQDIAKDFP RGEESLETLE EQSAGVIRNT SPLGAEKITG 300 ELEEMRKVLE KLRALWEEEE ERLRGLLRSR GAWEQQIKQL EAELSEFRMV LQRLAQEGLQ 360 PAAKAGTEDE LVAHWRRYSA TRAALASEEP RVDRLQAQLK ELIVFPHNLK PLSDSVIATI 420 QEYQSLKVKS ARLRNAAAVE LWQHFQRPLQ DLQLWKALAQ RLLEVTASLP DLPSLHTFLP 480 QIEAALMESS RLKELLTMLQ LKKDLLIGIF GQERATALLE QVAGSMRDRD LLHNSLLQRK 540 SKLQSLLAQH KDFGAAFEPL QRKLLDLQVR VQAEKGLQRD LPGKQAQLSR LQGLQEEGLD 600 LGAQMEAARP LVQENPNHQH KMDQLSSDFQ ALQRSLEDLV DRCRQSVQEH CTFSHQLLEL 660 RQWIVVTTQK LEAHRGEAGP GDAESQEAEF ERLVAEFPEK EAQLSLVEAQ GWLVMEKSSP 720 EGAAVVQEEL RELAESWRAL RLLEESLLSL IRNWHLQRME VDSGKKMVFT NNIPKSGFLI 780 NPMDPIPRHR RRANLLQEEE GSHEDFSQLL RNFGQWLQVE NSKLVRIIAM RTSTAEDLRT 840 RKSKLQELEA RVPEGQHLFE NLLRLGPARG TSDELEDLRY QWMLYKSKLK DSGHLLTQSS 900 PGEPTGFQKT RRWRGLGSLF RRACCVALPL QLLLLLFLLL LFLLPIREED RSCTLANNFA 960 RSFTLMLRYN GPPPT 975

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	SYNE3	520207	A0A3Q1MN88	Bos taurus	Prediction	More>>
1:1 ortholog	SYNE3		A0A452EF11	Capra hircus	Prediction	More>>
1:1 ortholog	SYNE3	161176	Q6ZMZ3	Homo sapiens	Publication	More>>
1:1 ortholog	Syne3	212073	Q4FZC9	Mus musculus	Prediction	More>>
1:1 ortholog	SYNE3		H2Q8V7	Pan troglodytes	Prediction	More>>
1:1 ortholog	Syne3		D3ZD24	Rattus norvegicus	Prediction	More>>
1:1 ortholog	syne3	100009645	X1WGA9	Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs758563267	p.Pro5Leu	missense variant	-	NC_000014.9:g.95475808G>A	ExAC,TOPMed,gnomAD
rs758563267	p.Pro5Leu	missense variant	-	NC_000014.9:g.95475808G>A	NCI-TCGA
rs144300694	p.Gln6His	missense variant	-	NC_000014.9:g.95475804C>G	ESP,ExAC,gnomAD
rs372442807	p.Asp7Glu	missense variant	-	NC_000014.9:g.95475801G>T	ESP,ExAC,gnomAD
rs796225617	p.Asp8Asn	missense variant	-	NC_000014.9:g.95475800C>T	TOPMed,gnomAD
rs754184454	p.Asp10His	missense variant	-	NC_000014.9:g.95475794C>G	ExAC,gnomAD
rs766885763	p.Ser12Ile	missense variant	-	NC_000014.9:g.95475787C>A	ExAC,gnomAD
rs954926152	p.Ser12Gly	missense variant	-	NC_000014.9:g.95475788T>C	TOPMed,gnomAD
rs144095171	p.Ser12Arg	missense variant	-	NC_000014.9:g.95475786G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs549347311	p.Val13Met	missense variant	-	NC_000014.9:g.95475785C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1161230550	p.Asp15Gly	missense variant	-	NC_000014.9:g.95475778T>C	gnomAD
rs200309130	p.Ala16Val	missense variant	-	NC_000014.9:g.95475775G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln17Pro	missense variant	-	NC_000014.9:g.95475772T>G	NCI-TCGA
rs530594286	p.Ala18Thr	missense variant	-	NC_000014.9:g.95475770C>T	1000Genomes
rs993631512	p.Trp19Arg	missense variant	-	NC_000014.9:g.95475767A>G	TOPMed,gnomAD
rs1449567116	p.Lys21Met	missense variant	-	NC_000014.9:g.95475760T>A	TOPMed
NCI-TCGA novel	p.Lys21Asn	missense variant	-	NC_000014.9:g.95475759C>G	NCI-TCGA
rs761451124	p.Ala22Pro	missense variant	-	NC_000014.9:g.95475758C>G	ExAC,TOPMed,gnomAD
rs1450310209	p.Gln24Lys	missense variant	-	NC_000014.9:g.95475752G>T	gnomAD
rs563262041	p.Asp25Gly	missense variant	-	NC_000014.9:g.95475748T>C	1000Genomes,ExAC,gnomAD
rs768401669	p.Gln28Arg	missense variant	-	NC_000014.9:g.95475739T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val29Leu	missense variant	-	NC_000014.9:g.95475737C>G	NCI-TCGA
rs77114672	p.Asn30Thr	missense variant	-	NC_000014.9:g.95475733T>G	TOPMed,gnomAD
rs77114672	p.Asn30Ser	missense variant	-	NC_000014.9:g.95475733T>C	TOPMed,gnomAD
rs762535247	p.Asp31Asn	missense variant	-	NC_000014.9:g.95475731C>T	ExAC,TOPMed,gnomAD
rs3952862	p.Thr33Met	missense variant	-	NC_000014.9:g.95475724G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370244222	p.Gln34Arg	missense variant	-	NC_000014.9:g.95475721T>C	ESP,ExAC,TOPMed,gnomAD
rs1436646599	p.Pro36His	missense variant	-	NC_000014.9:g.95475715G>T	gnomAD
rs748312825	p.Pro36Ser	missense variant	-	NC_000014.9:g.95475716G>A	ExAC,gnomAD
rs748312825	p.Pro36Thr	missense variant	-	NC_000014.9:g.95475716G>T	ExAC,gnomAD
rs776974057	p.Arg37His	missense variant	-	NC_000014.9:g.95475712C>T	ExAC,TOPMed,gnomAD
rs141800370	p.Arg37Cys	missense variant	-	NC_000014.9:g.95475713G>A	ESP,ExAC,TOPMed,gnomAD
rs776974057	p.Arg37Leu	missense variant	-	NC_000014.9:g.95475712C>A	ExAC,TOPMed,gnomAD
rs377599534	p.Ala38Val	missense variant	-	NC_000014.9:g.95475709G>A	ESP,ExAC,TOPMed,gnomAD
rs377599534	p.Ala38Gly	missense variant	-	NC_000014.9:g.95475709G>C	ESP,ExAC,TOPMed,gnomAD
rs756600087	p.Ala38Ser	missense variant	-	NC_000014.9:g.95475710C>A	ExAC,TOPMed,gnomAD
rs756600087	p.Ala38Thr	missense variant	-	NC_000014.9:g.95475710C>T	ExAC,TOPMed,gnomAD
rs756600087	p.Ala38Thr	missense variant	-	NC_000014.9:g.95475710C>T	NCI-TCGA
rs756698494	p.Ala39Val	missense variant	-	NC_000014.9:g.95475706G>A	ExAC,gnomAD
rs1479084232	p.Leu40Pro	missense variant	-	NC_000014.9:g.95475703A>G	gnomAD
rs1245147199	p.Ala42Thr	missense variant	-	NC_000014.9:g.95475698C>T	TOPMed,gnomAD
rs1245147199	p.Ala42Ser	missense variant	-	NC_000014.9:g.95475698C>A	TOPMed,gnomAD
rs775182717	p.Trp45Cys	missense variant	-	NC_000014.9:g.95475687C>A	ExAC
NCI-TCGA novel	p.Trp45Ter	stop gained	-	NC_000014.9:g.95475687C>T	NCI-TCGA
rs776529744	p.Glu48Lys	missense variant	-	NC_000014.9:g.95475680C>T	ExAC,TOPMed,gnomAD
rs1414378634	p.Ile50Thr	missense variant	-	NC_000014.9:g.95467963A>G	gnomAD
rs760607047	p.Cys51Arg	missense variant	-	NC_000014.9:g.95467961A>G	ExAC,gnomAD
rs1354275623	p.Cys51Phe	missense variant	-	NC_000014.9:g.95467960C>A	TOPMed
rs1418813035	p.Gln52Leu	missense variant	-	NC_000014.9:g.95467957T>A	gnomAD
COSM1147444	p.Gln52Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95467958G>A	NCI-TCGA Cosmic
rs891802744	p.Glu54Lys	missense variant	-	NC_000014.9:g.95467952C>T	TOPMed
rs150277330	p.Pro55Ser	missense variant	-	NC_000014.9:g.95467949G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376779070	p.Glu56Lys	missense variant	-	NC_000014.9:g.95467946C>T	ESP,TOPMed,gnomAD
rs1183232303	p.Gly57Glu	missense variant	-	NC_000014.9:g.95467942C>T	gnomAD
rs373561836	p.Arg58His	missense variant	-	NC_000014.9:g.95467939C>T	ESP,ExAC,TOPMed,gnomAD
rs555914853	p.Arg58Cys	missense variant	-	NC_000014.9:g.95467940G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs770091322	p.Arg60Thr	missense variant	-	NC_000014.9:g.95467933C>G	ExAC,TOPMed,gnomAD
rs770091322	p.Arg60Lys	missense variant	-	NC_000014.9:g.95467933C>T	ExAC,TOPMed,gnomAD
rs140918242	p.Val61Leu	missense variant	-	NC_000014.9:g.95467931C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1236474905	p.Val61Ala	missense variant	-	NC_000014.9:g.95467930A>G	gnomAD
rs140918242	p.Val61Met	missense variant	-	NC_000014.9:g.95467931C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs771212605	p.Asp62Glu	missense variant	-	NC_000014.9:g.95467926G>C	ExAC,TOPMed,gnomAD
rs757884469	p.Val64Met	missense variant	-	NC_000014.9:g.95467922C>T	ExAC,TOPMed,gnomAD
rs754560731	p.Arg66Gln	missense variant	-	NC_000014.9:g.95467915C>T	ExAC,TOPMed,gnomAD
rs148002580	p.Arg66Trp	missense variant	-	NC_000014.9:g.95467916G>A	ESP,ExAC,TOPMed,gnomAD
rs760769434	p.Met67Ile	missense variant	-	NC_000014.9:g.95467911C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala70Val	missense variant	-	NC_000014.9:g.95467903G>A	NCI-TCGA
rs1453281964	p.Leu71Phe	missense variant	-	NC_000014.9:g.95467901G>A	gnomAD
rs1167103290	p.Cys75Tyr	missense variant	-	NC_000014.9:g.95467888C>T	TOPMed
rs760450784	p.Cys75Ter	stop gained	-	NC_000014.9:g.95467887G>T	ExAC,gnomAD
rs1422502689	p.Pro76Thr	missense variant	-	NC_000014.9:g.95467886G>T	TOPMed,gnomAD
rs1422502689	p.Pro76Ser	missense variant	-	NC_000014.9:g.95467886G>A	TOPMed,gnomAD
rs750340746	p.Gly77Trp	missense variant	-	NC_000014.9:g.95467883C>A	ExAC,gnomAD
rs1189785543	p.Asp78Asn	missense variant	-	NC_000014.9:g.95467880C>T	gnomAD
rs767609293	p.Gln79Lys	missense variant	-	NC_000014.9:g.95467877G>T	ExAC,gnomAD
rs1202905961	p.Pro81Leu	missense variant	-	NC_000014.9:g.95467870G>A	gnomAD
rs146970314	p.Gly82Arg	missense variant	-	NC_000014.9:g.95467868C>T	ESP,ExAC,TOPMed,gnomAD
rs369931009	p.Ala85Thr	missense variant	-	NC_000014.9:g.95467859C>T	ESP,TOPMed,gnomAD
rs773420568	p.Ala85Val	missense variant	-	NC_000014.9:g.95467858G>A	TOPMed,gnomAD
rs759774092	p.Arg86Trp	missense variant	-	NC_000014.9:g.95467856G>A	ExAC,TOPMed,gnomAD
rs201418759	p.Arg86Gln	missense variant	-	NC_000014.9:g.95467855C>T	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg86Leu	missense variant	-	NC_000014.9:g.95467855C>A	NCI-TCGA
NCI-TCGA novel	p.Leu87Ter	frameshift	-	NC_000014.9:g.95467854C>-	NCI-TCGA
rs552352255	p.Asp89Asn	missense variant	-	NC_000014.9:g.95467847C>T	1000Genomes,ExAC,gnomAD
rs35481769	p.Ala92Ser	missense variant	-	NC_000014.9:g.95467838C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs35481769	p.Ala92Thr	missense variant	-	NC_000014.9:g.95467838C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1252192857	p.Trp94Leu	missense variant	-	NC_000014.9:g.95467831C>A	TOPMed
COSM4540361	p.Trp94Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95467830C>T	NCI-TCGA Cosmic
rs754544381	p.Thr97Ala	missense variant	-	NC_000014.9:g.95467823T>C	ExAC,TOPMed,gnomAD
rs1432147841	p.Thr99Ile	missense variant	-	NC_000014.9:g.95467816G>A	gnomAD
rs755913015	p.Tyr100Ter	stop gained	-	NC_000014.9:g.95467812G>T	ExAC,gnomAD
rs1427417071	p.Met101Val	missense variant	-	NC_000014.9:g.95467811T>C	gnomAD
rs1267541621	p.Thr102Pro	missense variant	-	NC_000014.9:g.95467808T>G	TOPMed,gnomAD
rs1192592069	p.Thr102Ile	missense variant	-	NC_000014.9:g.95467807G>A	gnomAD
rs767449941	p.Cys104Ter	stop gained	-	NC_000014.9:g.95467800A>T	ExAC,TOPMed,gnomAD
rs750134563	p.Cys104Tyr	missense variant	-	NC_000014.9:g.95467801C>T	ExAC,gnomAD
rs1489778153	p.Cys104Arg	missense variant	-	NC_000014.9:g.95467802A>G	gnomAD
rs774814848	p.Arg107Cys	missense variant	-	NC_000014.9:g.95466239G>A	ExAC,TOPMed,gnomAD
rs749830184	p.Arg107His	missense variant	-	NC_000014.9:g.95466238C>T	ExAC,TOPMed,gnomAD
rs774814848	p.Arg107Ser	missense variant	-	NC_000014.9:g.95466239G>T	ExAC,TOPMed,gnomAD
COSM3499526	p.Arg107Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95466239G>C	NCI-TCGA Cosmic
rs749830184	p.Arg107Leu	missense variant	-	NC_000014.9:g.95466238C>A	ExAC,TOPMed,gnomAD
rs774793672	p.Glu109Lys	missense variant	-	NC_000014.9:g.95466233C>T	ExAC,TOPMed,gnomAD
rs1380992719	p.Trp110Ter	stop gained	-	NC_000014.9:g.95466228C>T	TOPMed
rs1348862925	p.Val111Met	missense variant	-	NC_000014.9:g.95466227C>T	gnomAD
rs563053678	p.Leu113Pro	missense variant	-	NC_000014.9:g.95466220A>G	1000Genomes
rs1342778163	p.His114Asp	missense variant	-	NC_000014.9:g.95466218G>C	gnomAD
rs781057914	p.Ser116Arg	missense variant	-	NC_000014.9:g.95466210G>C	ExAC,TOPMed,gnomAD
rs967775438	p.Ser116Asn	missense variant	-	NC_000014.9:g.95466211C>T	TOPMed,gnomAD
rs746752810	p.Glu117Lys	missense variant	-	NC_000014.9:g.95466209C>T	ExAC,TOPMed,gnomAD
rs746752810	p.Glu117Ter	stop gained	-	NC_000014.9:g.95466209C>A	ExAC,TOPMed,gnomAD
rs1320760483	p.Tyr118Ter	stop gained	-	NC_000014.9:g.95466204G>C	gnomAD
rs777743531	p.Leu119Pro	missense variant	-	NC_000014.9:g.95466202A>G	ExAC,gnomAD
rs1021853327	p.Leu119Met	missense variant	-	NC_000014.9:g.95466203G>T	TOPMed,gnomAD
rs766359822	p.Arg122Gln	missense variant	-	NC_000014.9:g.95466193C>T	ExAC,TOPMed,gnomAD
rs201998458	p.Arg122Gly	missense variant	-	NC_000014.9:g.95466194G>C	ExAC,TOPMed
rs201998458	p.Arg122Ter	stop gained	-	NC_000014.9:g.95466194G>A	ExAC,TOPMed
NCI-TCGA novel	p.Arg122GlyGluVal	insertion	-	NC_000014.9:g.95466192_95466193insACCTCCCCA	NCI-TCGA
rs750617123	p.Asp123Gly	missense variant	-	NC_000014.9:g.95466190T>C	ExAC,gnomAD
rs1386953659	p.Glu124Gly	missense variant	-	NC_000014.9:g.95466187T>C	gnomAD
rs1444046025	p.Phe125Ser	missense variant	-	NC_000014.9:g.95466184A>G	gnomAD
rs1204641550	p.Tyr126Cys	missense variant	-	NC_000014.9:g.95466181T>C	TOPMed,gnomAD
rs138444931	p.Arg127Leu	missense variant	-	NC_000014.9:g.95466178C>A	ESP,ExAC,TOPMed,gnomAD
rs767772253	p.Arg127Cys	missense variant	-	NC_000014.9:g.95466179G>A	ExAC,gnomAD
rs138444931	p.Arg127His	missense variant	-	NC_000014.9:g.95466178C>T	ESP,ExAC,TOPMed,gnomAD
rs763309004	p.Phe129Leu	missense variant	-	NC_000014.9:g.95466171G>C	ExAC,TOPMed,gnomAD
rs1283909058	p.Phe129Leu	missense variant	-	NC_000014.9:g.95466173A>G	gnomAD
rs1245924509	p.Met132Ile	missense variant	-	NC_000014.9:g.95466162C>G	TOPMed,gnomAD
rs776122096	p.Met132Thr	missense variant	-	NC_000014.9:g.95466163A>G	ExAC,gnomAD
rs1362051824	p.Met132Val	missense variant	-	NC_000014.9:g.95466164T>C	gnomAD
rs1489077863	p.Met133Val	missense variant	-	NC_000014.9:g.95466161T>C	TOPMed
rs769182774	p.Val134Gly	missense variant	-	NC_000014.9:g.95466157A>C	ExAC,gnomAD
rs750634754	p.Thr135Ile	missense variant	-	NC_000014.9:g.95466154G>A	ExAC,TOPMed,gnomAD
rs551210062	p.Pro138Leu	missense variant	-	NC_000014.9:g.95466145G>A	1000Genomes
rs776303712	p.Pro138Ser	missense variant	-	NC_000014.9:g.95466146G>A	ExAC,gnomAD
rs1008420107	p.His139Arg	missense variant	-	NC_000014.9:g.95466142T>C	TOPMed,gnomAD
rs532215612	p.Ile140Met	missense variant	-	NC_000014.9:g.95466138G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1367247171	p.Ile140Asn	missense variant	-	NC_000014.9:g.95466139A>T	gnomAD
rs770669593	p.Ile140Val	missense variant	-	NC_000014.9:g.95466140T>C	ExAC,TOPMed,gnomAD
rs1322613166	p.Glu141Lys	missense variant	-	NC_000014.9:g.95466137C>T	gnomAD
NCI-TCGA novel	p.Glu141Asp	missense variant	-	NC_000014.9:g.95466135C>A	NCI-TCGA
rs149000067	p.Gly145Asp	missense variant	-	NC_000014.9:g.95466124C>T	ESP,ExAC,TOPMed,gnomAD
rs1390771335	p.Trp151Gly	missense variant	-	NC_000014.9:g.95466107A>C	gnomAD
rs1316950085	p.Gln152Leu	missense variant	-	NC_000014.9:g.95466103T>A	TOPMed,gnomAD
rs200390743	p.Gln152Ter	stop gained	-	NC_000014.9:g.95466104G>A	ESP,ExAC,TOPMed,gnomAD
rs1474470000	p.Leu153Arg	missense variant	-	NC_000014.9:g.95466100A>C	gnomAD
rs1474470000	p.Leu153Pro	missense variant	-	NC_000014.9:g.95466100A>G	gnomAD
rs1199875697	p.His155Tyr	missense variant	-	NC_000014.9:g.95466095G>A	gnomAD
rs756120772	p.Ala156Thr	missense variant	-	NC_000014.9:g.95466092C>T	ExAC,TOPMed,gnomAD
rs540187127	p.Gln157Leu	missense variant	-	NC_000014.9:g.95466088T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs540187127	p.Gln157Arg	missense variant	-	NC_000014.9:g.95466088T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs781278523	p.Gln157His	missense variant	-	NC_000014.9:g.95466087C>G	ExAC,TOPMed,gnomAD
rs967201260	p.Val158Met	missense variant	-	NC_000014.9:g.95466086C>T	gnomAD
rs1215759390	p.Val158Ala	missense variant	-	NC_000014.9:g.95466085A>G	gnomAD
rs1269185971	p.Leu159Met	missense variant	-	NC_000014.9:g.95466083G>T	gnomAD
rs916527196	p.His161Tyr	missense variant	-	NC_000014.9:g.95466077G>A	TOPMed,gnomAD
rs1347062043	p.His161Arg	missense variant	-	NC_000014.9:g.95466076T>C	gnomAD
rs751791161	p.Asn162Lys	missense variant	-	NC_000014.9:g.95466072G>C	ExAC,TOPMed,gnomAD
rs528067092	p.Val163Met	missense variant	-	NC_000014.9:g.95466071C>T	1000Genomes,ExAC,gnomAD
rs367890381	p.Asp164Gly	missense variant	-	NC_000014.9:g.95466067T>C	ESP,ExAC,TOPMed,gnomAD
rs753113013	p.Gln166Glu	missense variant	-	NC_000014.9:g.95466062G>C	ExAC,TOPMed,gnomAD
rs753113013	p.Gln166Lys	missense variant	-	NC_000014.9:g.95466062G>T	ExAC,TOPMed,gnomAD
rs374330729	p.Ala167Glu	missense variant	-	NC_000014.9:g.95466058G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374330729	p.Ala167Val	missense variant	-	NC_000014.9:g.95466058G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs368622752	p.Leu169Phe	missense variant	-	NC_000014.9:g.95466053G>A	ESP,ExAC,TOPMed,gnomAD
rs372316132	p.Arg172Gln	missense variant	-	NC_000014.9:g.95466043C>T	ESP,ExAC,TOPMed,gnomAD
rs376081330	p.Arg172Trp	missense variant	-	NC_000014.9:g.95466044G>A	ESP,ExAC,TOPMed,gnomAD
rs372316132	p.Arg172Pro	missense variant	-	NC_000014.9:g.95466043C>G	ESP,ExAC,TOPMed,gnomAD
rs1271657352	p.Leu174Val	missense variant	-	NC_000014.9:g.95466038G>C	gnomAD
rs542535872	p.Glu175Lys	missense variant	-	NC_000014.9:g.95466035C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM4852153	p.Glu175Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95466035C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu175AspPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95466033_95466034insCCACTAAA	NCI-TCGA
rs751724689	p.Ala177Glu	missense variant	-	NC_000014.9:g.95466028G>T	ExAC,gnomAD
rs764733835	p.Asn182Asp	missense variant	-	NC_000014.9:g.95466014T>C	TOPMed
rs1407234797	p.Asn182Thr	missense variant	-	NC_000014.9:g.95466013T>G	TOPMed
rs755486551	p.Gly185Val	missense variant	-	NC_000014.9:g.95466004C>A	ExAC,TOPMed,gnomAD
rs753066371	p.Gly185Trp	missense variant	-	NC_000014.9:g.95466005C>A	ExAC,TOPMed,gnomAD
rs755486551	p.Gly185Ala	missense variant	-	NC_000014.9:g.95466004C>G	ExAC,TOPMed,gnomAD
rs753066371	p.Gly185Arg	missense variant	-	NC_000014.9:g.95466005C>T	ExAC,TOPMed,gnomAD
rs760298891	p.Ser188Arg	missense variant	-	NC_000014.9:g.95465994G>C	ExAC,gnomAD
rs201214269	p.Val189Met	missense variant	-	NC_000014.9:g.95465993C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs556704828	p.Val189Ala	missense variant	-	NC_000014.9:g.95465992A>G	1000Genomes,ExAC,gnomAD
rs556704828	p.Val189Gly	missense variant	-	NC_000014.9:g.95465992A>C	1000Genomes,ExAC,gnomAD
rs749211983	p.Glu191Gly	missense variant	-	NC_000014.9:g.95465986T>C	ExAC,gnomAD
rs768455712	p.Glu191Lys	missense variant	-	NC_000014.9:g.95465987C>T	ExAC,TOPMed,gnomAD
COSM2254030	p.Asp192His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95465984C>G	NCI-TCGA Cosmic
rs1314020495	p.Ala193Thr	missense variant	-	NC_000014.9:g.95465981C>T	TOPMed
COSM1147438	p.Gln194Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95465978G>A	NCI-TCGA Cosmic
rs775473860	p.Lys195Glu	missense variant	-	NC_000014.9:g.95465975T>C	ExAC,gnomAD
rs770968513	p.Arg196Ile	missense variant	-	NC_000014.9:g.95465971C>A	ExAC,gnomAD
rs1356633456	p.Glu200Ala	missense variant	-	NC_000014.9:g.95465959T>G	TOPMed
rs199510666	p.Glu200Asp	missense variant	-	NC_000014.9:g.95465958C>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM6141725	p.Glu200Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95465960C>A	NCI-TCGA Cosmic
rs777746430	p.Tyr201Asp	missense variant	-	NC_000014.9:g.95465957A>C	ExAC,TOPMed
COSM1371881	p.Tyr201Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95465955G>T	NCI-TCGA Cosmic
rs140961870	p.Asp202Glu	missense variant	-	NC_000014.9:g.95465952A>C	ESP,ExAC,TOPMed,gnomAD
rs1317181535	p.Asp202Asn	missense variant	-	NC_000014.9:g.95465954C>T	TOPMed,gnomAD
rs779406180	p.Ala206Ser	missense variant	-	NC_000014.9:g.95465942C>A	ExAC,TOPMed,gnomAD
COSM3815615	p.Ala206Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95465941G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys207Asn	missense variant	-	NC_000014.9:g.95465937C>A	NCI-TCGA
rs767038945	p.Ala208Thr	missense variant	-	NC_000014.9:g.95465936C>T	ExAC,TOPMed,gnomAD
rs767038945	p.Ala208Ser	missense variant	-	NC_000014.9:g.95465936C>A	ExAC,TOPMed,gnomAD
rs1412059153	p.Gln209His	missense variant	-	NC_000014.9:g.95465931C>G	gnomAD
rs1335123021	p.Gln209Ter	stop gained	-	NC_000014.9:g.95465933G>A	gnomAD
rs1358030977	p.Lys210Ter	stop gained	-	NC_000014.9:g.95457338T>A	gnomAD
rs763785289	p.Arg211His	missense variant	-	NC_000014.9:g.95457334C>T	ExAC,TOPMed,gnomAD
rs751183434	p.Arg211Cys	missense variant	-	NC_000014.9:g.95457335G>A	ExAC,TOPMed,gnomAD
rs1184442564	p.Val212Ile	missense variant	-	NC_000014.9:g.95457332C>T	gnomAD
rs752422811	p.Asp213Asn	missense variant	-	NC_000014.9:g.95457329C>T	ExAC,gnomAD
rs765029245	p.Leu214Met	missense variant	-	NC_000014.9:g.95457326G>T	ExAC,gnomAD
rs1290955170	p.Leu215Pro	missense variant	-	NC_000014.9:g.95457322A>G	gnomAD
rs1279290612	p.Glu216Gln	missense variant	-	NC_000014.9:g.95457320C>G	TOPMed
rs1279290612	p.Glu216Lys	missense variant	-	NC_000014.9:g.95457320C>T	TOPMed
rs201192700	p.Val218Met	missense variant	-	NC_000014.9:g.95457314C>T	1000Genomes
NCI-TCGA novel	p.Ala219Thr	missense variant	-	NC_000014.9:g.95457311C>T	NCI-TCGA
rs187376318	p.Arg220Gly	missense variant	-	NC_000014.9:g.95457308G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs74082143	p.Arg220Gln	missense variant	-	NC_000014.9:g.95457307C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs187376318	p.Arg220Trp	missense variant	-	NC_000014.9:g.95457308G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1346437229	p.Glu221Ter	stop gained	-	NC_000014.9:g.95457305C>A	gnomAD
rs1305322109	p.Glu221Asp	missense variant	-	NC_000014.9:g.95457303C>A	gnomAD
COSM3499520	p.Glu221Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95457305C>T	NCI-TCGA Cosmic
rs547667137	p.His222Tyr	missense variant	-	NC_000014.9:g.95457302G>A	1000Genomes,ExAC,gnomAD
rs1365425215	p.del223TerLysUnk	stop gained	-	NC_000014.9:g.95457299_95457300insTTTTTTA	gnomAD
rs1169025625	p.Glu223Gly	missense variant	-	NC_000014.9:g.95457298T>C	gnomAD
rs1312284105	p.Glu223Lys	missense variant	-	NC_000014.9:g.95457299C>T	TOPMed
NCI-TCGA novel	p.Glu223Asp	missense variant	-	NC_000014.9:g.95457297C>A	NCI-TCGA
rs1462018451	p.Glu224Lys	missense variant	-	NC_000014.9:g.95457296C>T	gnomAD
rs1487783424	p.Tyr225Cys	missense variant	-	NC_000014.9:g.95457292T>C	TOPMed
rs1283420867	p.Tyr225His	missense variant	-	NC_000014.9:g.95457293A>G	TOPMed
rs1477284050	p.Gln226Glu	missense variant	-	NC_000014.9:g.95457290G>C	TOPMed,gnomAD
rs199883369	p.Gln226His	missense variant	-	NC_000014.9:g.95457288C>G	ESP,ExAC,TOPMed,gnomAD
rs1489801819	p.Gly228Asp	missense variant	-	NC_000014.9:g.95457283C>T	gnomAD
rs749529804	p.Gly228Cys	missense variant	-	NC_000014.9:g.95457284C>A	ExAC,gnomAD
rs749529804	p.Gly228Ser	missense variant	-	NC_000014.9:g.95457284C>T	ExAC,gnomAD
rs1476971835	p.Val229Glu	missense variant	-	NC_000014.9:g.95457280A>T	TOPMed
rs770117088	p.Glu231Lys	missense variant	-	NC_000014.9:g.95457275C>T	ExAC,TOPMed,gnomAD
rs770117088	p.Glu231Gln	missense variant	-	NC_000014.9:g.95457275C>G	ExAC,TOPMed,gnomAD
rs781591151	p.Gln233His	missense variant	-	NC_000014.9:g.95457267T>G	ExAC,TOPMed,gnomAD
rs1481599193	p.Gln233Ter	stop gained	-	NC_000014.9:g.95457269G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Trp235Ter	stop gained	-	NC_000014.9:g.95457261C>T	NCI-TCGA
rs201962564	p.Ala238Glu	missense variant	-	NC_000014.9:g.95457253G>T	ESP,ExAC,TOPMed,gnomAD
rs201962564	p.Ala238Val	missense variant	-	NC_000014.9:g.95457253G>A	ESP,ExAC,TOPMed,gnomAD
rs752402746	p.Val240Ala	missense variant	-	NC_000014.9:g.95457247A>G	ExAC,TOPMed,gnomAD
rs765075179	p.Glu241Val	missense variant	-	NC_000014.9:g.95457244T>A	ExAC,gnomAD
rs753788900	p.Val243Ala	missense variant	-	NC_000014.9:g.95457238A>G	ExAC,gnomAD
rs768874517	p.Gly245Val	missense variant	-	NC_000014.9:g.95457232C>A	ExAC,TOPMed,gnomAD
rs561918088	p.Gly245Ser	missense variant	-	NC_000014.9:g.95457233C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs561918088	p.Gly245Cys	missense variant	-	NC_000014.9:g.95457233C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs925600001	p.Leu247Pro	missense variant	-	NC_000014.9:g.95457226A>G	TOPMed
NCI-TCGA novel	p.Leu247Met	missense variant	-	NC_000014.9:g.95457227G>T	NCI-TCGA
rs1479309890	p.Gly248Arg	missense variant	-	NC_000014.9:g.95457224C>T	gnomAD
COSM1587710	p.Gly248Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95457224C>A	NCI-TCGA Cosmic
rs775923128	p.Arg249Trp	missense variant	-	NC_000014.9:g.95457221G>A	ExAC,TOPMed,gnomAD
rs202183573	p.Arg249Pro	missense variant	-	NC_000014.9:g.95457220C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs202183573	p.Arg249Gln	missense variant	-	NC_000014.9:g.95457220C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs746268195	p.Asn250Asp	missense variant	-	NC_000014.9:g.95457218T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn250His	missense variant	-	NC_000014.9:g.95457218T>G	NCI-TCGA
NCI-TCGA novel	p.Asn250Lys	missense variant	-	NC_000014.9:g.95457216G>T	NCI-TCGA
rs781638173	p.Cys251Tyr	missense variant	-	NC_000014.9:g.95457214C>T	ExAC,gnomAD
rs576045838	p.Cys251Trp	missense variant	-	NC_000014.9:g.95457213G>C	1000Genomes,ExAC,gnomAD
rs747528522	p.Pro254His	missense variant	-	NC_000014.9:g.95457205G>T	ExAC,TOPMed,gnomAD
rs747528522	p.Pro254Arg	missense variant	-	NC_000014.9:g.95457205G>C	ExAC,TOPMed,gnomAD
rs757968564	p.Ile255Asn	missense variant	-	NC_000014.9:g.95457202A>T	ExAC,gnomAD
rs182425490	p.Thr256Lys	missense variant	-	NC_000014.9:g.95457199G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs182425490	p.Thr256Met	missense variant	-	NC_000014.9:g.95457199G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr256ArgPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95457200T>-	NCI-TCGA
rs572049296	p.Gln257Arg	missense variant	-	NC_000014.9:g.95457196T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs572049296	p.Gln257Leu	missense variant	-	NC_000014.9:g.95457196T>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln257Lys	missense variant	-	NC_000014.9:g.95457197G>T	NCI-TCGA
NCI-TCGA novel	p.Gln257Ter	stop gained	-	NC_000014.9:g.95457197G>A	NCI-TCGA
rs750448277	p.Arg258Cys	missense variant	-	NC_000014.9:g.95457194G>A	ExAC,TOPMed,gnomAD
rs750448277	p.Arg258Ser	missense variant	-	NC_000014.9:g.95457194G>T	ExAC,TOPMed,gnomAD
rs376547031	p.Arg258His	missense variant	-	NC_000014.9:g.95457193C>T	ESP,ExAC,TOPMed,gnomAD
rs763168748	p.Thr261Arg	missense variant	-	NC_000014.9:g.95457184G>C	ExAC,gnomAD
NCI-TCGA novel	p.Thr261Lys	missense variant	-	NC_000014.9:g.95457184G>T	NCI-TCGA
rs765330240	p.Leu262Arg	missense variant	-	NC_000014.9:g.95457181A>C	ExAC,gnomAD
rs759834620	p.Gln263Glu	missense variant	-	NC_000014.9:g.95457179G>C	ExAC,gnomAD
rs781166609	p.Asp264Tyr	missense variant	-	NC_000014.9:g.95455724C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp264Asn	missense variant	-	NC_000014.9:g.95455724C>T	NCI-TCGA
rs757194288	p.Ile265Val	missense variant	-	NC_000014.9:g.95455721T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala266Val	missense variant	-	NC_000014.9:g.95455717G>A	NCI-TCGA
rs373454109	p.Lys267Glu	missense variant	-	NC_000014.9:g.95455715T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys267ArgPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95455714_95455715insC	NCI-TCGA
rs1156589343	p.Asp268Val	missense variant	-	NC_000014.9:g.95455711T>A	gnomAD
COSM256444	p.Asp268Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455712C>A	NCI-TCGA Cosmic
rs778853677	p.Arg271Thr	missense variant	-	NC_000014.9:g.95455702C>G	ExAC,gnomAD
rs755123278	p.Arg271Ser	missense variant	-	NC_000014.9:g.95455701C>G	ExAC,TOPMed,gnomAD
COSM6141731	p.Arg271Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455701C>A	NCI-TCGA Cosmic
rs749983870	p.Glu273Lys	missense variant	-	NC_000014.9:g.95455697C>T	TOPMed
rs766536040	p.Thr278Ala	missense variant	-	NC_000014.9:g.95455682T>C	ExAC
rs760915431	p.Thr278Met	missense variant	-	NC_000014.9:g.95455681G>A	ExAC,TOPMed,gnomAD
rs146716804	p.Glu281Gln	missense variant	-	NC_000014.9:g.95455673C>G	ESP,TOPMed,gnomAD
rs146716804	p.Glu281Lys	missense variant	-	NC_000014.9:g.95455673C>T	ESP,TOPMed,gnomAD
rs1479418046	p.Ser283Cys	missense variant	-	NC_000014.9:g.95455666G>C	TOPMed
rs568348358	p.Ser283Ala	missense variant	-	NC_000014.9:g.95455667A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs568348358	p.Ser283Pro	missense variant	-	NC_000014.9:g.95455667A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs143391386	p.Ala284Glu	missense variant	-	NC_000014.9:g.95455663G>T	ESP,ExAC,TOPMed,gnomAD
rs143391386	p.Ala284Val	missense variant	-	NC_000014.9:g.95455663G>A	ESP,ExAC,TOPMed,gnomAD
rs1355096785	p.Gly285Asp	missense variant	-	NC_000014.9:g.95455660C>T	gnomAD
NCI-TCGA novel	p.Gly285Ser	missense variant	-	NC_000014.9:g.95455661C>T	NCI-TCGA
rs1264628616	p.Val286Ala	missense variant	-	NC_000014.9:g.95455657A>G	gnomAD
rs775164044	p.Arg288Trp	missense variant	-	NC_000014.9:g.95455652G>A	ExAC,TOPMed,gnomAD
rs148687059	p.Arg288Gln	missense variant	-	NC_000014.9:g.95455651C>T	ESP,ExAC,TOPMed,gnomAD
rs745521271	p.Asn289Ile	missense variant	-	NC_000014.9:g.95455648T>A	ExAC,gnomAD
rs770915322	p.Asn289Lys	missense variant	-	NC_000014.9:g.95455647G>T	ExAC,TOPMed,gnomAD
rs746889351	p.Thr290Pro	missense variant	-	NC_000014.9:g.95455646T>G	ExAC,gnomAD
COSM1587712	p.Leu293Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455636A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly294Ser	missense variant	-	NC_000014.9:g.95455634C>T	NCI-TCGA
rs200001831	p.Glu296Lys	missense variant	-	NC_000014.9:g.95455628C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys297Asn	missense variant	-	NC_000014.9:g.95455623C>A	NCI-TCGA
rs780110039	p.Thr299Asn	missense variant	-	NC_000014.9:g.95455618G>T	ExAC,gnomAD
rs780110039	p.Thr299Ile	missense variant	-	NC_000014.9:g.95455618G>A	ExAC,gnomAD
rs112493785	p.Gly300Arg	missense variant	-	NC_000014.9:g.95455616C>T	ESP,TOPMed,gnomAD
COSM6076780	p.Gly300Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455615C>G	NCI-TCGA Cosmic
COSM1587714	p.Glu301Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455611T>A	NCI-TCGA Cosmic
rs1281226273	p.Glu304Lys	missense variant	-	NC_000014.9:g.95455604C>T	gnomAD
NCI-TCGA novel	p.Glu304Ter	stop gained	-	NC_000014.9:g.95455604C>A	NCI-TCGA
COSM1134003	p.Met305Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455599C>T	NCI-TCGA Cosmic
rs945751243	p.Lys307Arg	missense variant	-	NC_000014.9:g.95455594T>C	TOPMed,gnomAD
rs750698477	p.Leu312Val	missense variant	-	NC_000014.9:g.95455580G>C	ExAC,gnomAD
rs768762209	p.Arg313His	missense variant	-	NC_000014.9:g.95455576C>T	ExAC,TOPMed,gnomAD
rs201816324	p.Arg313Cys	missense variant	-	NC_000014.9:g.95455577G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs567096806	p.Ala314Thr	missense variant	-	NC_000014.9:g.95455574C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs144177102	p.Trp316Ser	missense variant	-	NC_000014.9:g.95455567C>G	ESP,ExAC,TOPMed,gnomAD
rs144177102	p.Trp316Ter	stop gained	-	NC_000014.9:g.95455567C>T	ESP,ExAC,TOPMed,gnomAD
rs982888279	p.Glu319Gln	missense variant	-	NC_000014.9:g.95455559C>G	TOPMed
NCI-TCGA novel	p.Glu320Asp	missense variant	-	NC_000014.9:g.95455554C>A	NCI-TCGA
rs1183726189	p.Glu321Val	missense variant	-	NC_000014.9:g.95455552T>A	gnomAD
rs199497782	p.Arg322Gly	missense variant	-	NC_000014.9:g.95455550G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs149457472	p.Arg322Gln	missense variant	-	NC_000014.9:g.95455549C>T	ESP,ExAC,TOPMed,gnomAD
rs199497782	p.Arg322Trp	missense variant	-	NC_000014.9:g.95455550G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs770607613	p.Arg324Gln	missense variant	-	NC_000014.9:g.95455543C>T	ExAC,gnomAD
rs548289594	p.Arg324Trp	missense variant	-	NC_000014.9:g.95455544G>A	1000Genomes,ExAC
rs746767888	p.Gly325Asp	missense variant	-	NC_000014.9:g.95455540C>T	ExAC,TOPMed,gnomAD
rs1317319510	p.Gly325Ser	missense variant	-	NC_000014.9:g.95455541C>T	gnomAD
rs145141808	p.Arg328Trp	missense variant	-	NC_000014.9:g.95455532G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746062749	p.Arg328Gln	missense variant	-	NC_000014.9:g.95455531C>T	ExAC,TOPMed,gnomAD
rs145141808	p.Arg328Gly	missense variant	-	NC_000014.9:g.95455532G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781445069	p.Ser329Ala	missense variant	-	NC_000014.9:g.95455529A>C	ExAC,gnomAD
rs769427891	p.Gly331Val	missense variant	-	NC_000014.9:g.95455522C>A	TOPMed,gnomAD
COSM4390986	p.Gly331Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95455522C>T	NCI-TCGA Cosmic
rs764371956	p.Trp333Arg	missense variant	-	NC_000014.9:g.95455517A>G	ExAC,gnomAD
rs758882606	p.Trp333Cys	missense variant	-	NC_000014.9:g.95455515C>G	ExAC,TOPMed,gnomAD
rs1231630343	p.Glu334Lys	missense variant	-	NC_000014.9:g.95455514C>T	TOPMed
rs753314369	p.Gln335Glu	missense variant	-	NC_000014.9:g.95455511G>C	ExAC,gnomAD
rs764808146	p.Gln335Arg	missense variant	-	NC_000014.9:g.95455510T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln336Pro	missense variant	-	NC_000014.9:g.95455507T>G	NCI-TCGA
rs759165323	p.Gln339Ter	stop gained	-	NC_000014.9:g.95455499G>A	ExAC,gnomAD
rs776301534	p.Gln339Leu	missense variant	-	NC_000014.9:g.95455498T>A	ExAC,TOPMed,gnomAD
rs766013746	p.Ser345Thr	missense variant	-	NC_000014.9:g.95455480C>G	ExAC,TOPMed,gnomAD
rs147354890	p.Glu346Ter	stop gained	-	NC_000014.9:g.95455478C>A	ESP,ExAC,TOPMed,gnomAD
rs372531003	p.Glu346Asp	missense variant	-	NC_000014.9:g.95455476C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg348Gly	missense variant	-	NC_000014.9:g.95455472T>C	NCI-TCGA
rs1035693664	p.Met349Ile	missense variant	-	NC_000014.9:g.95455467C>T	TOPMed
rs771817288	p.Gln352His	missense variant	-	NC_000014.9:g.95455458C>G	ExAC,gnomAD
rs748070235	p.Arg353Lys	missense variant	-	NC_000014.9:g.95455456C>T	ExAC,TOPMed,gnomAD
rs748070235	p.Arg353Thr	missense variant	-	NC_000014.9:g.95455456C>G	ExAC,TOPMed,gnomAD
rs774316738	p.Leu354Pro	missense variant	-	NC_000014.9:g.95455453A>G	ExAC,gnomAD
rs1248202437	p.Ala355Gly	missense variant	-	NC_000014.9:g.95455450G>C	gnomAD
rs1394780090	p.Gln356Ter	stop gained	-	NC_000014.9:g.95455448G>A	TOPMed
rs1320035369	p.Glu357Lys	missense variant	-	NC_000014.9:g.95455445C>T	gnomAD
rs1435694026	p.Gly358Val	missense variant	-	NC_000014.9:g.95455441C>A	TOPMed
rs781163437	p.Ala362Val	missense variant	-	NC_000014.9:g.95455429G>A	ExAC,TOPMed,gnomAD
rs781163437	p.Ala362Glu	missense variant	-	NC_000014.9:g.95455429G>T	ExAC,TOPMed,gnomAD
rs1366667162	p.Ala363Thr	missense variant	-	NC_000014.9:g.95455427C>T	gnomAD
rs142727232	p.Ala363Val	missense variant	-	NC_000014.9:g.95455426G>A	ESP,ExAC,TOPMed,gnomAD
rs1366168226	p.Lys364Glu	missense variant	-	NC_000014.9:g.95455424T>C	gnomAD
rs778187503	p.Ala365Val	missense variant	-	NC_000014.9:g.95455420G>A	ExAC,TOPMed,gnomAD
rs753232982	p.Gly366Glu	missense variant	-	NC_000014.9:g.95455417C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly366Arg	missense variant	-	NC_000014.9:g.95455418C>T	NCI-TCGA
rs947198642	p.Thr367Ser	missense variant	-	NC_000014.9:g.95455415T>A	TOPMed
rs753328598	p.Glu368Lys	missense variant	-	NC_000014.9:g.95455412C>T	ExAC,TOPMed
rs772803780	p.Asp369Glu	missense variant	-	NC_000014.9:g.95455407G>T	ExAC,TOPMed,gnomAD
rs760359905	p.Asp369Ala	missense variant	-	NC_000014.9:g.95455408T>G	ExAC,gnomAD
rs200606884	p.Asp369His	missense variant	-	NC_000014.9:g.95455409C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375467304	p.Glu370Lys	missense variant	-	NC_000014.9:g.95455406C>T	ESP,ExAC,TOPMed,gnomAD
rs774157635	p.Val372Leu	missense variant	-	NC_000014.9:g.95455400C>G	ExAC,TOPMed,gnomAD
rs565175736	p.Val372Ala	missense variant	-	NC_000014.9:g.95455399A>G	1000Genomes
rs774157635	p.Val372Met	missense variant	-	NC_000014.9:g.95455400C>T	ExAC,TOPMed,gnomAD
rs781208017	p.Ala373Thr	missense variant	-	NC_000014.9:g.95455397C>T	ExAC,TOPMed,gnomAD
rs771184132	p.Ala373Glu	missense variant	-	NC_000014.9:g.95455396G>T	ExAC,TOPMed,gnomAD
rs770975616	p.His374Arg	missense variant	-	NC_000014.9:g.95455393T>C	ExAC,TOPMed,gnomAD
rs747252583	p.Arg376Lys	missense variant	-	NC_000014.9:g.95455387C>T	ExAC,gnomAD
rs772443180	p.Arg377His	missense variant	-	NC_000014.9:g.95455384C>T	ExAC,TOPMed,gnomAD
rs74079986	p.Arg377Gly	missense variant	-	NC_000014.9:g.95455385G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs74079986	p.Arg377Cys	missense variant	-	NC_000014.9:g.95455385G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs184991599	p.Tyr378His	missense variant	-	NC_000014.9:g.95455382A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs141536238	p.Ser379Leu	missense variant	-	NC_000014.9:g.95455378G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1445405574	p.Ala380Gly	missense variant	-	NC_000014.9:g.95452382G>C	gnomAD
rs374749813	p.Ala380Thr	missense variant	-	NC_000014.9:g.95452383C>T	ESP,TOPMed,gnomAD
rs148375938	p.Arg382Gln	missense variant	-	NC_000014.9:g.95452376C>T	ESP,ExAC,TOPMed,gnomAD
rs749768826	p.Arg382Trp	missense variant	-	NC_000014.9:g.95452377G>A	ExAC,TOPMed,gnomAD
rs756668639	p.Ala383Val	missense variant	-	NC_000014.9:g.95452373G>A	ExAC,TOPMed,gnomAD
rs780689307	p.Ala384Val	missense variant	-	NC_000014.9:g.95452370G>A	ExAC,gnomAD
rs751271248	p.Ala386Thr	missense variant	-	NC_000014.9:g.95452365C>T	ExAC,TOPMed,gnomAD
rs370313899	p.Ser387Leu	missense variant	-	NC_000014.9:g.95452361G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370313899	p.Ser387Trp	missense variant	-	NC_000014.9:g.95452361G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752557620	p.Glu388Lys	missense variant	-	NC_000014.9:g.95452359C>T	ExAC,gnomAD
rs765042354	p.Glu389Asp	missense variant	-	NC_000014.9:g.95452354C>A	ExAC,gnomAD
rs765042354	p.Glu389Asp	missense variant	-	NC_000014.9:g.95452354C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu389Gly	missense variant	-	NC_000014.9:g.95452355T>C	NCI-TCGA
rs773107598	p.Pro390Arg	missense variant	-	NC_000014.9:g.95452352G>C	ExAC,TOPMed,gnomAD
rs547728289	p.Pro390Thr	missense variant	-	NC_000014.9:g.95452353G>T	1000Genomes,ExAC,gnomAD
rs773107598	p.Pro390His	missense variant	-	NC_000014.9:g.95452352G>T	ExAC,TOPMed,gnomAD
rs774751400	p.Arg391Gln	missense variant	-	NC_000014.9:g.95452349C>T	ExAC,TOPMed,gnomAD
rs774751400	p.Arg391Pro	missense variant	-	NC_000014.9:g.95452349C>G	ExAC,TOPMed,gnomAD
rs143414368	p.Arg391Trp	missense variant	-	NC_000014.9:g.95452350G>A	ESP,ExAC,TOPMed,gnomAD
rs149220293	p.Arg394Trp	missense variant	-	NC_000014.9:g.95452341G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146532718	p.Arg394Gln	missense variant	-	NC_000014.9:g.95452340C>T	ESP,ExAC,TOPMed,gnomAD
rs775956790	p.Leu395Pro	missense variant	-	NC_000014.9:g.95452337A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu395AlaPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95452338_95452339insC	NCI-TCGA
rs1242130977	p.Ala397Thr	missense variant	-	NC_000014.9:g.95452332C>T	gnomAD
rs1318721552	p.Gln398Leu	missense variant	-	NC_000014.9:g.95452328T>A	gnomAD
rs1318721552	p.Gln398Arg	missense variant	-	NC_000014.9:g.95452328T>C	gnomAD
rs1358492238	p.Leu399Arg	missense variant	-	NC_000014.9:g.95452325A>C	gnomAD
rs770137327	p.Leu399Met	missense variant	-	NC_000014.9:g.95452326G>T	ExAC,gnomAD
rs746403956	p.Glu401Lys	missense variant	-	NC_000014.9:g.95452320C>T	ExAC,gnomAD
rs746635406	p.Val404Ile	missense variant	-	NC_000014.9:g.95452311C>T	ExAC,TOPMed,gnomAD
COSM1477883	p.Pro406Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95452304G>A	NCI-TCGA Cosmic
rs531457245	p.Asn408Ser	missense variant	-	NC_000014.9:g.95452298T>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu409Pro	missense variant	-	NC_000014.9:g.95452295A>G	NCI-TCGA
rs754857398	p.Pro411Thr	missense variant	-	NC_000014.9:g.95452290G>T	ExAC,TOPMed,gnomAD
rs754857398	p.Pro411Ala	missense variant	-	NC_000014.9:g.95452290G>C	ExAC,TOPMed,gnomAD
rs753889870	p.Pro411Leu	missense variant	-	NC_000014.9:g.95452289G>A	ExAC,gnomAD
rs774597930	p.Leu412Pro	missense variant	-	NC_000014.9:g.95452286A>G	ExAC,gnomAD
rs764374573	p.Ser413Cys	missense variant	-	NC_000014.9:g.95452283G>C	ExAC,TOPMed,gnomAD
rs763245795	p.Ser415Ile	missense variant	-	NC_000014.9:g.95452277C>A	ExAC,TOPMed,gnomAD
rs763245795	p.Ser415Asn	missense variant	-	NC_000014.9:g.95452277C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile417Phe	missense variant	-	NC_000014.9:g.95452272T>A	NCI-TCGA
rs1319081356	p.Ala418Val	missense variant	-	NC_000014.9:g.95452268G>A	TOPMed
rs554105607	p.Ala418Thr	missense variant	-	NC_000014.9:g.95452269C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777164252	p.Ile420Thr	missense variant	-	NC_000014.9:g.95452262A>G	ExAC,gnomAD
rs770406739	p.Ser425Asn	missense variant	-	NC_000014.9:g.95452247C>T	ExAC,TOPMed,gnomAD
rs1172474753	p.Lys429Asn	missense variant	-	NC_000014.9:g.95450093C>G	gnomAD
rs201173477	p.Ala431Val	missense variant	-	NC_000014.9:g.95450088G>A	1000Genomes,gnomAD
rs753031485	p.Ala431Thr	missense variant	-	NC_000014.9:g.95450089C>T	ExAC,gnomAD
rs1237205483	p.Arg432Lys	missense variant	-	NC_000014.9:g.95450085C>T	gnomAD
rs376232551	p.Arg434Cys	missense variant	-	NC_000014.9:g.95450080G>A	ESP,ExAC,TOPMed,gnomAD
rs376232551	p.Arg434Ser	missense variant	-	NC_000014.9:g.95450080G>T	ESP,ExAC,TOPMed,gnomAD
rs183604014	p.Arg434His	missense variant	-	NC_000014.9:g.95450079C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777004540	p.Asn435Ser	missense variant	-	NC_000014.9:g.95450076T>C	ExAC,gnomAD
rs1444658977	p.Ala436Thr	missense variant	-	NC_000014.9:g.95450074C>T	TOPMed,gnomAD
rs1376361131	p.Ala436Gly	missense variant	-	NC_000014.9:g.95450073G>C	TOPMed,gnomAD
rs1179127265	p.Ala437Thr	missense variant	-	NC_000014.9:g.95450071C>T	TOPMed
rs771359113	p.Ala437Val	missense variant	-	NC_000014.9:g.95450070G>A	ExAC,gnomAD
rs376830751	p.Ala438Val	missense variant	-	NC_000014.9:g.95450067G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1161138989	p.Val439Ala	missense variant	-	NC_000014.9:g.95450064A>G	gnomAD
rs1159875923	p.Glu440Gln	missense variant	-	NC_000014.9:g.95450062C>G	gnomAD
rs778673965	p.Leu441Val	missense variant	-	NC_000014.9:g.95450059G>C	ExAC,gnomAD
rs768213789	p.Trp442Arg	missense variant	-	NC_000014.9:g.95450056A>G	ExAC,gnomAD
rs1349434523	p.Trp442Ter	stop gained	-	NC_000014.9:g.95450054C>T	TOPMed
rs749054497	p.Gln443His	missense variant	-	NC_000014.9:g.95450051C>A	ExAC,TOPMed,gnomAD
rs749054497	p.Gln443His	missense variant	-	NC_000014.9:g.95450051C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln443Ter	stop gained	-	NC_000014.9:g.95450053G>A	NCI-TCGA
rs780002803	p.His444Tyr	missense variant	-	NC_000014.9:g.95450050G>A	ExAC,gnomAD
rs780002803	p.His444Asn	missense variant	-	NC_000014.9:g.95450050G>T	ExAC,gnomAD
rs1209242072	p.Gln446Arg	missense variant	-	NC_000014.9:g.95450043T>C	gnomAD
rs756061434	p.Arg447Gln	missense variant	-	NC_000014.9:g.95450040C>T	ExAC,gnomAD
rs1488537327	p.Arg447Trp	missense variant	-	NC_000014.9:g.95450041G>A	gnomAD
rs750448403	p.Pro448Leu	missense variant	-	NC_000014.9:g.95450037G>A	ExAC,TOPMed,gnomAD
rs1353037282	p.Asp451Tyr	missense variant	-	NC_000014.9:g.95450029C>A	gnomAD
rs1366118657	p.Gln453His	missense variant	-	NC_000014.9:g.95450021C>A	TOPMed,gnomAD
rs541692457	p.Gln453Pro	missense variant	-	NC_000014.9:g.95450022T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1230228519	p.Trp455Cys	missense variant	-	NC_000014.9:g.95450015C>A	TOPMed,gnomAD
rs544630388	p.Lys456Glu	missense variant	-	NC_000014.9:g.95450014T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1401009738	p.Ala457Val	missense variant	-	NC_000014.9:g.95450010G>A	TOPMed,gnomAD
rs1283904428	p.Ala457Thr	missense variant	-	NC_000014.9:g.95450011C>T	gnomAD
rs913458748	p.Leu458Arg	missense variant	-	NC_000014.9:g.95450007A>C	TOPMed
rs1419662487	p.Ala459Val	missense variant	-	NC_000014.9:g.95450004G>A	gnomAD
rs1419662487	p.Ala459Asp	missense variant	-	NC_000014.9:g.95450004G>T	gnomAD
rs752841256	p.Arg461Trp	missense variant	-	NC_000014.9:g.95449999G>A	ExAC,TOPMed,gnomAD
rs752841256	p.Arg461Gly	missense variant	-	NC_000014.9:g.95449999G>C	ExAC,TOPMed,gnomAD
rs577341134	p.Val465Ile	missense variant	-	NC_000014.9:g.95449987C>T	1000Genomes,ExAC,gnomAD
rs1478038147	p.Thr466Ile	missense variant	-	NC_000014.9:g.95449983G>A	gnomAD
rs1265196404	p.Ala467Val	missense variant	-	NC_000014.9:g.95449980G>A	gnomAD
rs1214331592	p.Ser468Asn	missense variant	-	NC_000014.9:g.95449977C>T	gnomAD
rs754142966	p.Ser468Arg	missense variant	-	NC_000014.9:g.95449976G>C	ExAC,gnomAD
rs1167316095	p.Ser468Cys	missense variant	-	NC_000014.9:g.95449978T>A	TOPMed
rs1018246622	p.Leu469Val	missense variant	-	NC_000014.9:g.95449975G>C	TOPMed,gnomAD
rs1026413781	p.Pro470Arg	missense variant	-	NC_000014.9:g.95449971G>C	TOPMed,gnomAD
rs766787168	p.Pro470Ser	missense variant	-	NC_000014.9:g.95449972G>A	ExAC,gnomAD
rs1026413781	p.Pro470Leu	missense variant	-	NC_000014.9:g.95449971G>A	TOPMed,gnomAD
rs151008252	p.Asp471Asn	missense variant	-	NC_000014.9:g.95449969C>T	ESP,gnomAD
rs1276749812	p.Pro473Ser	missense variant	-	NC_000014.9:g.95449963G>A	gnomAD
rs1368996058	p.Thr477Asn	missense variant	-	NC_000014.9:g.95449950G>T	gnomAD
rs773805661	p.Pro480Ser	missense variant	-	NC_000014.9:g.95449942G>A	ExAC,TOPMed,gnomAD
rs761334868	p.Ile482Met	missense variant	-	NC_000014.9:g.95449934G>C	ExAC,TOPMed,gnomAD
rs201231576	p.Glu483Gln	missense variant	-	NC_000014.9:g.95449933C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201231576	p.Glu483Lys	missense variant	-	NC_000014.9:g.95449933C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs574563186	p.Ala484Gly	missense variant	-	NC_000014.9:g.95446090G>C	1000Genomes,TOPMed,gnomAD
rs762234500	p.Ala484Thr	missense variant	-	NC_000014.9:g.95446091C>T	ExAC,TOPMed,gnomAD
rs574563186	p.Ala484Val	missense variant	-	NC_000014.9:g.95446090G>A	1000Genomes,TOPMed,gnomAD
COSM4053316	p.Met487Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95446080C>G	NCI-TCGA Cosmic
rs1294132946	p.Glu488Gly	missense variant	-	NC_000014.9:g.95446078T>C	TOPMed
rs147345417	p.Glu488Asp	missense variant	-	NC_000014.9:g.95446077T>A	ESP,ExAC,TOPMed,gnomAD
rs147345417	p.Glu488Asp	missense variant	-	NC_000014.9:g.95446077T>G	ESP,ExAC,TOPMed,gnomAD
rs1378596907	p.Ser490Pro	missense variant	-	NC_000014.9:g.95446073A>G	gnomAD
rs1328915336	p.Ser490Phe	missense variant	-	NC_000014.9:g.95446072G>A	gnomAD
NCI-TCGA novel	p.Ser490PhePheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95446074_95446075insTGACCATTCTGCTTCAGTGTCCTCGTGTGTAAAA	NCI-TCGA
rs745629148	p.Arg491His	missense variant	-	NC_000014.9:g.95446069C>T	ExAC,TOPMed,gnomAD
rs745629148	p.Arg491Leu	missense variant	-	NC_000014.9:g.95446069C>A	ExAC,TOPMed,gnomAD
rs769690758	p.Arg491Cys	missense variant	-	NC_000014.9:g.95446070G>A	ExAC,TOPMed,gnomAD
rs776323574	p.Leu492Val	missense variant	-	NC_000014.9:g.95446067G>C	ExAC
rs770841219	p.Leu495Val	missense variant	-	NC_000014.9:g.95446058G>C	ExAC,gnomAD
rs61749972	p.Thr497Met	missense variant	-	NC_000014.9:g.95446051G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755090703	p.Met498Val	missense variant	-	NC_000014.9:g.95446049T>C	ExAC,gnomAD
rs1410167765	p.Met498Ile	missense variant	-	NC_000014.9:g.95446047C>A	gnomAD
rs1180568323	p.Gln500Ter	stop gained	-	NC_000014.9:g.95446043G>A	TOPMed
rs1428934284	p.Asp504Ala	missense variant	-	NC_000014.9:g.95446030T>G	gnomAD
rs756356344	p.Asp504Tyr	missense variant	-	NC_000014.9:g.95446031C>A	ExAC,gnomAD
rs767790091	p.Leu505Pro	missense variant	-	NC_000014.9:g.95446027A>G	ExAC,gnomAD
rs199883379	p.Leu505Phe	missense variant	-	NC_000014.9:g.95446028G>A	1000Genomes,ExAC,gnomAD
rs757771903	p.Ile507Thr	missense variant	-	NC_000014.9:g.95446021A>G	ExAC,TOPMed,gnomAD
rs763671081	p.Phe510Ser	missense variant	-	NC_000014.9:g.95446012A>G	ExAC,gnomAD
rs1387843337	p.Gln512Glu	missense variant	-	NC_000014.9:g.95446007G>C	TOPMed
rs369046578	p.Gln512His	missense variant	-	NC_000014.9:g.95446005C>A	ESP,ExAC,TOPMed,gnomAD
COSM1147434	p.Glu513Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95446002C>G	NCI-TCGA Cosmic
COSM4851136	p.Glu513Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95446004C>G	NCI-TCGA Cosmic
rs150102449	p.Arg514Lys	missense variant	-	NC_000014.9:g.95446000C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764945000	p.Thr516Met	missense variant	-	NC_000014.9:g.95445994G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr516Ala	missense variant	-	NC_000014.9:g.95445995T>C	NCI-TCGA
rs572397212	p.Ala517Val	missense variant	-	NC_000014.9:g.95445991G>A	1000Genomes,ExAC,gnomAD
rs921795608	p.Leu518Phe	missense variant	-	NC_000014.9:g.95445989G>A	TOPMed,gnomAD
rs770697351	p.Leu518Pro	missense variant	-	NC_000014.9:g.95445988A>G	ExAC,TOPMed,gnomAD
rs147178428	p.Leu519Arg	missense variant	-	NC_000014.9:g.95445985A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1264394023	p.Val522Leu	missense variant	-	NC_000014.9:g.95445977C>A	gnomAD
rs1487625234	p.Ala523Val	missense variant	-	NC_000014.9:g.95445973G>A	TOPMed,gnomAD
rs780109883	p.Gly524Asp	missense variant	-	NC_000014.9:g.95445970C>T	ExAC,TOPMed,gnomAD
rs780109883	p.Gly524Val	missense variant	-	NC_000014.9:g.95445970C>A	ExAC,TOPMed,gnomAD
rs1463492525	p.Gly524Ser	missense variant	-	NC_000014.9:g.95445971C>T	gnomAD
rs1356544359	p.Met526Ile	missense variant	-	NC_000014.9:g.95445963C>T	gnomAD
rs770002936	p.Asp528Tyr	missense variant	-	NC_000014.9:g.95445959C>A	ExAC,gnomAD
rs1242290045	p.Arg529Gly	missense variant	-	NC_000014.9:g.95445956T>C	gnomAD
rs1208420618	p.Arg529Thr	missense variant	-	NC_000014.9:g.95445955C>G	TOPMed
rs746137627	p.Asp530Tyr	missense variant	-	NC_000014.9:g.95445953C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp530AlaPheSerTerUnkUnkUnk	frameshift	-	NC_000014.9:g.95445937_95445952CTGTTATGCAGCAGGT>-	NCI-TCGA
rs535784290	p.Leu531Gln	missense variant	-	NC_000014.9:g.95445949A>T	1000Genomes,ExAC,gnomAD
rs778376216	p.His533Tyr	missense variant	-	NC_000014.9:g.95445944G>A	ExAC,gnomAD
rs542482480	p.His533Arg	missense variant	-	NC_000014.9:g.95445943T>C	TOPMed,gnomAD
rs542482480	p.His533Pro	missense variant	-	NC_000014.9:g.95445943T>G	TOPMed,gnomAD
rs556818166	p.Lys540Asn	missense variant	-	NC_000014.9:g.95445921T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1196372510	p.Ser541Thr	missense variant	-	NC_000014.9:g.95445919C>G	gnomAD
rs764896066	p.Lys542Thr	missense variant	-	NC_000014.9:g.95445916T>G	ExAC,TOPMed,gnomAD
rs1191788558	p.Gln544Ter	stop gained	-	NC_000014.9:g.95445911G>A	gnomAD
rs772601950	p.Ser545Gly	missense variant	-	NC_000014.9:g.95444628T>C	ExAC,TOPMed,gnomAD
rs748639681	p.Leu547Val	missense variant	-	NC_000014.9:g.95444622G>C	ExAC,TOPMed,gnomAD
rs200153210	p.Ala548Thr	missense variant	-	NC_000014.9:g.95444619C>T	1000Genomes,ESP,ExAC,gnomAD
rs200153210	p.Ala548Ser	missense variant	-	NC_000014.9:g.95444619C>A	1000Genomes,ESP,ExAC,gnomAD
rs748678129	p.Gln549Glu	missense variant	-	NC_000014.9:g.95444616G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp552Tyr	missense variant	-	NC_000014.9:g.95444607C>A	NCI-TCGA
rs779628602	p.Gly554Ter	stop gained	-	NC_000014.9:g.95444601C>A	ExAC,gnomAD
rs779628602	p.Gly554Arg	missense variant	-	NC_000014.9:g.95444601C>T	ExAC,gnomAD
rs565608397	p.Ala555Glu	missense variant	-	NC_000014.9:g.95444597G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs565608397	p.Ala555Val	missense variant	-	NC_000014.9:g.95444597G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1426913866	p.Ala556Gly	missense variant	-	NC_000014.9:g.95444594G>C	TOPMed
rs1366483946	p.Ala556Thr	missense variant	-	NC_000014.9:g.95444595C>T	TOPMed
rs150245374	p.Pro559Thr	missense variant	-	NC_000014.9:g.95444586G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150245374	p.Pro559Ser	missense variant	-	NC_000014.9:g.95444586G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro559His	missense variant	-	NC_000014.9:g.95444585G>T	NCI-TCGA
rs763902909	p.Leu560Val	missense variant	-	NC_000014.9:g.95444583G>C	ExAC,gnomAD
COSM1371866	p.Gln561Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95444580G>A	NCI-TCGA Cosmic
COSM6076783	p.Gln561Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95444579T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg562Ser	missense variant	-	NC_000014.9:g.95444575C>A	NCI-TCGA
rs1285084487	p.Leu567Arg	missense variant	-	NC_000014.9:g.95444561A>C	gnomAD
rs556716725	p.Arg570Ser	missense variant	-	NC_000014.9:g.95444551C>A	gnomAD
rs776518247	p.Val571Ala	missense variant	-	NC_000014.9:g.95444549A>G	ExAC,gnomAD
rs1312771499	p.Val571Ile	missense variant	-	NC_000014.9:g.95444550C>T	gnomAD
rs144257709	p.Gln572Arg	missense variant	-	NC_000014.9:g.95444546T>C	1000Genomes,ExAC,gnomAD
rs773614686	p.Glu574Lys	missense variant	-	NC_000014.9:g.95444541C>T	ExAC,TOPMed,gnomAD
rs374360574	p.Lys575Asn	missense variant	-	NC_000014.9:g.95444536C>A	ESP,ExAC,TOPMed,gnomAD
rs897472998	p.Gly576Val	missense variant	-	NC_000014.9:g.95444534C>A	gnomAD
rs774782727	p.Arg579Trp	missense variant	-	NC_000014.9:g.95444526G>A	ExAC,TOPMed
rs768986406	p.Arg579Pro	missense variant	-	NC_000014.9:g.95444525C>G	ExAC,gnomAD
rs768986406	p.Arg579Leu	missense variant	-	NC_000014.9:g.95444525C>A	ExAC,gnomAD
rs768986406	p.Arg579Gln	missense variant	-	NC_000014.9:g.95444525C>T	ExAC,gnomAD
rs1255191720	p.Asp580Glu	missense variant	-	NC_000014.9:g.95444521G>T	gnomAD
COSM6076786	p.Asp580Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95444523C>A	NCI-TCGA Cosmic
rs535952387	p.Gln585Arg	missense variant	-	NC_000014.9:g.95444507T>C	1000Genomes,ExAC,gnomAD
rs755662883	p.Ala586Thr	missense variant	-	NC_000014.9:g.95444505C>T	ExAC,TOPMed,gnomAD
rs1317831172	p.Gln587Arg	missense variant	-	NC_000014.9:g.95444501T>C	gnomAD
COSM6076789	p.Ser589Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000014.9:g.95444495G>C	NCI-TCGA Cosmic
rs141984619	p.Gln592Lys	missense variant	-	NC_000014.9:g.95444487G>T	ESP,TOPMed
rs1438039270	p.Gln595Arg	missense variant	-	NC_000014.9:g.95443282T>C	gnomAD
rs750472860	p.Glu596Gly	missense variant	-	NC_000014.9:g.95443279T>C	ExAC,TOPMed,gnomAD
rs1260020654	p.Glu596Lys	missense variant	-	NC_000014.9:g.95443280C>T	TOPMed
rs767762825	p.Glu597Gly	missense variant	-	NC_000014.9:g.95443276T>C	ExAC,TOPMed,gnomAD
rs200840336	p.Leu599Gln	missense variant	-	NC_000014.9:g.95443270A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1467261890	p.Gly602Glu	missense variant	-	NC_000014.9:g.95443261C>T	TOPMed,gnomAD
rs1241900455	p.Ala603Thr	missense variant	-	NC_000014.9:g.95443259C>T	TOPMed
rs764345357	p.Gln604Leu	missense variant	-	NC_000014.9:g.95443255T>A	ExAC,gnomAD
rs372953935	p.Arg609Ser	missense variant	-	NC_000014.9:g.95443239C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs968344741	p.Arg609Lys	missense variant	-	NC_000014.9:g.95443240C>T	TOPMed
rs1468805264	p.Pro610Arg	missense variant	-	NC_000014.9:g.95443237G>C	TOPMed
rs368962250	p.Leu611Pro	missense variant	-	NC_000014.9:g.95443234A>G	ESP,ExAC,TOPMed,gnomAD
rs760052843	p.Gln613Arg	missense variant	-	NC_000014.9:g.95443228T>C	ExAC,gnomAD
rs1202376572	p.Glu614Lys	missense variant	-	NC_000014.9:g.95443226C>T	gnomAD
rs776109215	p.Glu614Asp	missense variant	-	NC_000014.9:g.95443224C>G	ExAC,gnomAD
rs942402554	p.Pro616Ala	missense variant	-	NC_000014.9:g.95443220G>C	TOPMed,gnomAD
rs910953674	p.Asn617Ser	missense variant	-	NC_000014.9:g.95443216T>C	TOPMed,gnomAD
rs770496775	p.His618Asp	missense variant	-	NC_000014.9:g.95443214G>C	ExAC,TOPMed,gnomAD
rs770496775	p.His618Tyr	missense variant	-	NC_000014.9:g.95443214G>A	ExAC,TOPMed,gnomAD
rs746617485	p.Gln619Ter	stop gained	-	NC_000014.9:g.95443211G>A	ExAC,gnomAD
rs539126470	p.His620Gln	missense variant	-	NC_000014.9:g.95443206G>C	1000Genomes,ExAC
rs771649997	p.Lys621Arg	missense variant	-	NC_000014.9:g.95443204T>C	ExAC,gnomAD
rs1401666360	p.Met622Ile	missense variant	-	NC_000014.9:g.95443200C>A	TOPMed
rs1296303272	p.Asp623Gly	missense variant	-	NC_000014.9:g.95443198T>C	gnomAD
rs1461359913	p.Gln624Ter	stop gained	-	NC_000014.9:g.95443196G>A	gnomAD
rs747905842	p.Gln624Arg	missense variant	-	NC_000014.9:g.95443195T>C	ExAC,gnomAD
rs1291910900	p.Leu625Ile	missense variant	-	NC_000014.9:g.95443193G>T	TOPMed,gnomAD
rs375970247	p.Ser627Phe	missense variant	-	NC_000014.9:g.95443186G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs753892119	p.Asp628Asn	missense variant	-	NC_000014.9:g.95443184C>T	ExAC,TOPMed,gnomAD
rs781387235	p.Ala631Asp	missense variant	-	NC_000014.9:g.95443174G>T	ExAC,TOPMed,gnomAD
rs367881284	p.Arg634Lys	missense variant	-	NC_000014.9:g.95443165C>T	ESP,ExAC,TOPMed,gnomAD
rs372244319	p.Ser635Phe	missense variant	-	NC_000014.9:g.95443162G>A	ESP,ExAC,TOPMed,gnomAD
rs1193222648	p.Asp638Asn	missense variant	-	NC_000014.9:g.95440075C>T	gnomAD
rs1431720244	p.Asp638Ala	missense variant	-	NC_000014.9:g.95440074T>G	TOPMed
rs772764129	p.Leu639Pro	missense variant	-	NC_000014.9:g.95440071A>G	ExAC,gnomAD
rs1335156021	p.Val640Met	missense variant	-	NC_000014.9:g.95440069C>T	gnomAD
rs1274748440	p.Asp641Glu	missense variant	-	NC_000014.9:g.95440064G>T	TOPMed,gnomAD
rs1274748440	p.Asp641Glu	missense variant	-	NC_000014.9:g.95440064G>C	TOPMed,gnomAD
rs1231243622	p.Arg642Lys	missense variant	-	NC_000014.9:g.95440062C>T	gnomAD
rs1334009738	p.Cys643Arg	missense variant	-	NC_000014.9:g.95440060A>G	gnomAD
rs761524122	p.Arg644Gln	missense variant	-	NC_000014.9:g.95440056C>T	ExAC,TOPMed,gnomAD
rs767003225	p.Arg644Trp	missense variant	-	NC_000014.9:g.95440057G>A	ExAC,TOPMed,gnomAD
rs1324747825	p.Gln645Ter	stop gained	-	NC_000014.9:g.95440054G>A	gnomAD
rs774194767	p.His650Tyr	missense variant	-	NC_000014.9:g.95440039G>A	ExAC,gnomAD
rs188418564	p.His650Gln	missense variant	-	NC_000014.9:g.95440037G>C	1000Genomes,ExAC,gnomAD
COSM3370116	p.Cys651Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95440034G>C	NCI-TCGA Cosmic
rs1282980856	p.Thr652Asn	missense variant	-	NC_000014.9:g.95440032G>T	TOPMed
rs749054339	p.His655Arg	missense variant	-	NC_000014.9:g.95440023T>C	ExAC,gnomAD
rs1324239796	p.His655Tyr	missense variant	-	NC_000014.9:g.95440024G>A	gnomAD
rs1170122504	p.Leu657Val	missense variant	-	NC_000014.9:g.95440018G>C	gnomAD
rs769715277	p.Leu657Pro	missense variant	-	NC_000014.9:g.95440017A>G	ExAC,gnomAD
rs936287670	p.Leu658Pro	missense variant	-	NC_000014.9:g.95440014A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu658Met	missense variant	-	NC_000014.9:g.95440015G>T	NCI-TCGA
rs951576901	p.Arg661Gln	missense variant	-	NC_000014.9:g.95440005C>T	TOPMed,gnomAD
rs145629361	p.Arg661Trp	missense variant	-	NC_000014.9:g.95440006G>A	ESP,ExAC,TOPMed,gnomAD
rs1254518764	p.Trp663Ter	stop gained	-	NC_000014.9:g.95439998C>T	gnomAD
rs748350441	p.Val665Leu	missense variant	-	NC_000014.9:g.95439994C>G	ExAC,TOPMed,gnomAD
rs748350441	p.Val665Ile	missense variant	-	NC_000014.9:g.95439994C>T	ExAC,TOPMed,gnomAD
rs945131973	p.Val666Met	missense variant	-	NC_000014.9:g.95439991C>T	TOPMed,gnomAD
rs945131973	p.Val666Leu	missense variant	-	NC_000014.9:g.95439991C>A	TOPMed,gnomAD
rs9671369	p.Thr668Met	missense variant	-	NC_000014.9:g.95439984G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs78302139	p.Lys670Met	missense variant	-	NC_000014.9:g.95439978T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1017780853	p.Ala673Thr	missense variant	-	NC_000014.9:g.95439970C>T	gnomAD
rs1333294721	p.His674Gln	missense variant	-	NC_000014.9:g.95439965G>T	TOPMed
rs766708082	p.His674Arg	missense variant	-	NC_000014.9:g.95439966T>C	ExAC,gnomAD
rs756639179	p.Arg675Trp	missense variant	-	NC_000014.9:g.95439964G>A	ExAC,TOPMed,gnomAD
rs149167483	p.Arg675Gln	missense variant	-	NC_000014.9:g.95439963C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs149167483	p.Arg675Leu	missense variant	-	NC_000014.9:g.95439963C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs756639179	p.Arg675Gly	missense variant	-	NC_000014.9:g.95439964G>C	ExAC,TOPMed,gnomAD
rs761356467	p.Gly676Arg	missense variant	-	NC_000014.9:g.95439961C>G	ExAC,gnomAD
rs1288157699	p.Glu677Lys	missense variant	-	NC_000014.9:g.95439958C>T	gnomAD
NCI-TCGA novel	p.Glu677Gln	missense variant	-	NC_000014.9:g.95439958C>G	NCI-TCGA
rs201726994	p.Ala678Val	missense variant	-	NC_000014.9:g.95439954G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs935140434	p.Gly679Asp	missense variant	-	NC_000014.9:g.95439951C>T	TOPMed,gnomAD
rs769547536	p.Pro680Arg	missense variant	-	NC_000014.9:g.95439948G>C	ExAC,TOPMed,gnomAD
rs769547536	p.Pro680Leu	missense variant	-	NC_000014.9:g.95439948G>A	ExAC,TOPMed,gnomAD
rs931755693	p.Asp682Asn	missense variant	-	NC_000014.9:g.95439943C>T	TOPMed
rs144731675	p.Ala683Asp	missense variant	-	NC_000014.9:g.95439939G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748156365	p.Glu684Ala	missense variant	-	NC_000014.9:g.95439936T>G	ExAC,TOPMed,gnomAD
rs1161481401	p.Glu684Lys	missense variant	-	NC_000014.9:g.95439937C>T	TOPMed
rs778973496	p.Ser685Pro	missense variant	-	NC_000014.9:g.95439934A>G	ExAC,gnomAD
rs749577390	p.Glu689Lys	missense variant	-	NC_000014.9:g.95439922C>T	ExAC,gnomAD
rs1354127661	p.Arg692Ser	missense variant	-	NC_000014.9:g.95439782C>A	gnomAD
rs781702238	p.Val694Met	missense variant	-	NC_000014.9:g.95439778C>T	ExAC,TOPMed,gnomAD
rs202087389	p.Val694Gly	missense variant	-	NC_000014.9:g.95439777A>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala695Val	missense variant	-	NC_000014.9:g.95439774G>A	NCI-TCGA
rs1251705935	p.Glu696Gly	missense variant	-	NC_000014.9:g.95439771T>C	TOPMed
rs371647696	p.Pro698Gln	missense variant	-	NC_000014.9:g.95439765G>T	ESP,ExAC,TOPMed,gnomAD
rs371647696	p.Pro698Leu	missense variant	-	NC_000014.9:g.95439765G>A	ESP,ExAC,TOPMed,gnomAD
rs563209323	p.Glu699Gln	missense variant	-	NC_000014.9:g.95439763C>G	1000Genomes
rs61754461	p.Lys700Asn	missense variant	-	NC_000014.9:g.95439758C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1182524290	p.Glu701Lys	missense variant	-	NC_000014.9:g.95439757C>T	TOPMed
rs577412246	p.Gln703Glu	missense variant	-	NC_000014.9:g.95439751G>C	1000Genomes,ExAC,gnomAD
rs144196871	p.Ala709Val	missense variant	-	NC_000014.9:g.95439732G>A	ESP,TOPMed,gnomAD
COSM3987854	p.Ala709Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95439733C>T	NCI-TCGA Cosmic
rs762900883	p.Gly711Ser	missense variant	-	NC_000014.9:g.95439727C>T	ExAC,TOPMed,gnomAD
rs762900883	p.Gly711Cys	missense variant	-	NC_000014.9:g.95439727C>A	ExAC,TOPMed,gnomAD
rs1446709420	p.Trp712Ter	stop gained	-	NC_000014.9:g.95439723C>T	TOPMed,gnomAD
rs868284481	p.Val714Met	missense variant	-	NC_000014.9:g.95439718C>T	TOPMed
rs1375380342	p.Met715Thr	missense variant	-	NC_000014.9:g.95439714A>G	TOPMed
rs140338587	p.Pro720Leu	missense variant	-	NC_000014.9:g.95439699G>A	ESP,ExAC,TOPMed,gnomAD
rs775645776	p.Pro720Ala	missense variant	-	NC_000014.9:g.95439700G>C	ExAC,gnomAD
rs1359380918	p.Ala723Thr	missense variant	-	NC_000014.9:g.95439691C>T	TOPMed
rs748337224	p.Ala724Val	missense variant	-	NC_000014.9:g.95439687G>A	TOPMed,gnomAD
rs572478808	p.Val725Met	missense variant	-	NC_000014.9:g.95439685C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs572478808	p.Val725Leu	missense variant	-	NC_000014.9:g.95439685C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1387474671	p.Gln727Ter	stop gained	-	NC_000014.9:g.95439679G>A	gnomAD
rs778380161	p.Glu729Lys	missense variant	-	NC_000014.9:g.95439673C>T	ExAC,TOPMed,gnomAD
rs1186608873	p.Glu729Asp	missense variant	-	NC_000014.9:g.95439671C>A	gnomAD
rs778380161	p.Glu729Ter	stop gained	-	NC_000014.9:g.95439673C>A	ExAC,TOPMed,gnomAD
rs758978380	p.Glu729Val	missense variant	-	NC_000014.9:g.95439672T>A	ExAC,TOPMed,gnomAD
rs1429109699	p.Leu730His	missense variant	-	NC_000014.9:g.95439669A>T	gnomAD
rs1421738616	p.Arg731Gly	missense variant	-	NC_000014.9:g.95439667T>C	gnomAD
rs1421738616	p.Arg731Trp	missense variant	-	NC_000014.9:g.95439667T>A	gnomAD
NCI-TCGA novel	p.Arg731Lys	missense variant	-	NC_000014.9:g.95439666C>T	NCI-TCGA
rs778539204	p.Glu732Ter	stop gained	-	NC_000014.9:g.95439664C>A	ExAC,TOPMed,gnomAD
COSM3886654	p.Glu732Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95439663T>C	NCI-TCGA Cosmic
COSM6076792	p.Glu732Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95439664C>G	NCI-TCGA Cosmic
rs1215831743	p.Glu735Lys	missense variant	-	NC_000014.9:g.95439655C>T	gnomAD
rs753564172	p.Ser736Leu	missense variant	-	NC_000014.9:g.95439651G>A	ExAC,gnomAD
rs1273009478	p.Ser736Ala	missense variant	-	NC_000014.9:g.95439652A>C	TOPMed,gnomAD
rs755851563	p.Trp737Ter	stop gained	-	NC_000014.9:g.95439648C>T	ExAC,gnomAD
rs750249553	p.Arg738Trp	missense variant	-	NC_000014.9:g.95439646G>A	ExAC,gnomAD
rs767375655	p.Arg738Gln	missense variant	-	NC_000014.9:g.95439645C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala739Thr	missense variant	-	NC_000014.9:g.95439643C>T	NCI-TCGA
rs142537412	p.Arg741Ser	missense variant	-	NC_000014.9:g.95439635C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg741Met	missense variant	-	NC_000014.9:g.95439636C>A	NCI-TCGA
rs535878871	p.Leu743Pro	missense variant	-	NC_000014.9:g.95439630A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201448388	p.Glu744Gly	missense variant	-	NC_000014.9:g.95439627T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1342905202	p.Glu745Ter	stop gained	-	NC_000014.9:g.95439625C>A	TOPMed
rs759647504	p.Ser746Arg	missense variant	-	NC_000014.9:g.95439620A>C	ExAC,TOPMed,gnomAD
rs1356226818	p.Leu747Arg	missense variant	-	NC_000014.9:g.95439618A>C	gnomAD
rs1160242482	p.Arg752Lys	missense variant	-	NC_000014.9:g.95439154C>T	gnomAD
rs781099784	p.Asn753Lys	missense variant	-	NC_000014.9:g.95439150G>C	ExAC,gnomAD
rs1421222204	p.Asn753Thr	missense variant	-	NC_000014.9:g.95439151T>G	gnomAD
rs144319184	p.Trp754Ter	stop gained	-	NC_000014.9:g.95439147C>T	ESP
rs759033948	p.Trp754Gly	missense variant	-	NC_000014.9:g.95439149A>C	ExAC,TOPMed,gnomAD
rs751557832	p.Trp754Ter	stop gained	-	NC_000014.9:g.95439148C>T	ExAC,TOPMed,gnomAD
rs1369300254	p.Val761Ala	missense variant	-	NC_000014.9:g.95439127A>G	TOPMed
rs765212058	p.Ser763Leu	missense variant	-	NC_000014.9:g.95439121G>A	ExAC,TOPMed,gnomAD
rs766645599	p.Gly764Val	missense variant	-	NC_000014.9:g.95439118C>A	ExAC,gnomAD
rs761031540	p.Lys765Asn	missense variant	-	NC_000014.9:g.95439114C>A	ExAC,gnomAD
rs1346505286	p.Lys765Gln	missense variant	-	NC_000014.9:g.95439116T>G	TOPMed
rs773702748	p.Met767Ile	missense variant	-	NC_000014.9:g.95439108C>T	ExAC,gnomAD
rs772524614	p.Phe769Leu	missense variant	-	NC_000014.9:g.95439102G>C	ExAC,gnomAD
rs1221580831	p.Thr770Pro	missense variant	-	NC_000014.9:g.95439101T>G	TOPMed
rs1304682308	p.Thr770Ile	missense variant	-	NC_000014.9:g.95439100G>A	gnomAD
rs141609511	p.Asn771Ser	missense variant	-	NC_000014.9:g.95439097T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141609511	p.Asn771Ile	missense variant	-	NC_000014.9:g.95439097T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs978203906	p.Asn772Ser	missense variant	-	NC_000014.9:g.95439094T>C	TOPMed
rs1314771442	p.Asn772Asp	missense variant	-	NC_000014.9:g.95439095T>C	gnomAD
rs550965393	p.Ser776Leu	missense variant	-	NC_000014.9:g.95439082G>A	1000Genomes,ExAC,gnomAD
rs377209700	p.Phe778Tyr	missense variant	-	NC_000014.9:g.95439076A>T	ESP,TOPMed
rs770818140	p.Leu779Phe	missense variant	-	NC_000014.9:g.95439074G>A	ExAC,TOPMed,gnomAD
rs1455592733	p.Ile780Asn	missense variant	-	NC_000014.9:g.95439070A>T	gnomAD
rs575658188	p.Asn781Ser	missense variant	-	NC_000014.9:g.95439067T>C	TOPMed,gnomAD
rs555821802	p.Pro782Arg	missense variant	-	NC_000014.9:g.95439064G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Pro782His	missense variant	-	NC_000014.9:g.95439064G>T	NCI-TCGA
rs779552067	p.Met783Ile	missense variant	-	NC_000014.9:g.95439060C>A	ExAC,gnomAD
rs760638317	p.Met783Thr	missense variant	-	NC_000014.9:g.95439061A>G	gnomAD
rs779552067	p.Met783Ile	missense variant	-	NC_000014.9:g.95439060C>T	ExAC,gnomAD
rs769423169	p.Pro785Ser	missense variant	-	NC_000014.9:g.95439056G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro785His	missense variant	-	NC_000014.9:g.95439055G>T	NCI-TCGA
COSM4536945	p.Arg788Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95439046C>T	NCI-TCGA Cosmic
rs146407791	p.Arg790His	missense variant	-	NC_000014.9:g.95439040C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs554951423	p.Arg790Cys	missense variant	-	NC_000014.9:g.95439041G>A	ExAC,TOPMed,gnomAD
rs554951423	p.Arg790Gly	missense variant	-	NC_000014.9:g.95439041G>C	ExAC,TOPMed,gnomAD
rs751335846	p.Arg791Gln	missense variant	-	NC_000014.9:g.95439037C>T	ExAC,TOPMed,gnomAD
rs757125407	p.Arg791Gly	missense variant	-	NC_000014.9:g.95439038G>C	ExAC,gnomAD
rs757125407	p.Arg791Ter	stop gained	-	NC_000014.9:g.95439038G>A	ExAC,gnomAD
rs777728702	p.Arg792Cys	missense variant	-	NC_000014.9:g.95439035G>A	ExAC,TOPMed,gnomAD
rs758419026	p.Arg792His	missense variant	-	NC_000014.9:g.95439034C>T	ExAC,TOPMed,gnomAD
rs1387836712	p.Ala793Thr	missense variant	-	NC_000014.9:g.95436981C>T	gnomAD
rs751938689	p.Asn794Ser	missense variant	-	NC_000014.9:g.95436977T>C	ExAC,gnomAD
rs764511039	p.Glu798Gly	missense variant	-	NC_000014.9:g.95436965T>C	ExAC,TOPMed,gnomAD
rs555598757	p.Ser802Arg	missense variant	-	NC_000014.9:g.95436952G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs974356373	p.Ser802Gly	missense variant	-	NC_000014.9:g.95436954T>C	TOPMed,gnomAD
rs776027792	p.Ser802Asn	missense variant	-	NC_000014.9:g.95436953C>T	ExAC,gnomAD
rs1235208740	p.His803Arg	missense variant	-	NC_000014.9:g.95436950T>C	gnomAD
rs1225363469	p.Glu804Lys	missense variant	-	NC_000014.9:g.95436948C>T	TOPMed
rs1373486035	p.Phe806Leu	missense variant	-	NC_000014.9:g.95436942A>G	gnomAD
COSM3987851	p.Phe806Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95436941A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Phe806Tyr	missense variant	-	NC_000014.9:g.95436941A>T	NCI-TCGA
rs1340285125	p.Ser807Pro	missense variant	-	NC_000014.9:g.95436939A>G	TOPMed
NCI-TCGA novel	p.Gln808Ter	stop gained	-	NC_000014.9:g.95436936G>A	NCI-TCGA
rs759010266	p.Leu810Val	missense variant	-	NC_000014.9:g.95436930G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn812Ile	missense variant	-	NC_000014.9:g.95436923T>A	NCI-TCGA
rs1331436219	p.Phe813Leu	missense variant	-	NC_000014.9:g.95436921A>G	TOPMed,gnomAD
rs776012276	p.Phe813Cys	missense variant	-	NC_000014.9:g.95436920A>C	ExAC,gnomAD
rs776012276	p.Phe813Ser	missense variant	-	NC_000014.9:g.95436920A>G	ExAC,gnomAD
rs770563232	p.Gly814Glu	missense variant	-	NC_000014.9:g.95436917C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly814Ala	missense variant	-	NC_000014.9:g.95436917C>G	NCI-TCGA
rs1434893230	p.Trp816Arg	missense variant	-	NC_000014.9:g.95436912A>G	gnomAD
rs537347555	p.Trp816Cys	missense variant	-	NC_000014.9:g.95436910C>A	1000Genomes,ExAC,gnomAD
rs1170556868	p.Gln818Ter	stop gained	-	NC_000014.9:g.95436906G>A	gnomAD
rs773024495	p.Val819Leu	missense variant	-	NC_000014.9:g.95436903C>A	ExAC,gnomAD
rs1183894350	p.Glu820Lys	missense variant	-	NC_000014.9:g.95436900C>T	gnomAD
rs747975370	p.Asn821Ser	missense variant	-	NC_000014.9:g.95436896T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asn821ThrPheSerTerUnkUnk	frameshift	-	NC_000014.9:g.95436896T>-	NCI-TCGA
rs778952658	p.Lys823Arg	missense variant	-	NC_000014.9:g.95436890T>C	ExAC,gnomAD
rs1350270899	p.Leu824Val	missense variant	-	NC_000014.9:g.95436888G>C	gnomAD
NCI-TCGA novel	p.Leu824Arg	missense variant	-	NC_000014.9:g.95436887A>C	NCI-TCGA
rs1488765792	p.Val825Ile	missense variant	-	NC_000014.9:g.95436885C>T	TOPMed,gnomAD
rs1264838262	p.Arg826Thr	missense variant	-	NC_000014.9:g.95436881C>G	gnomAD
rs1276728108	p.Ile827Val	missense variant	-	NC_000014.9:g.95436879T>C	TOPMed,gnomAD
rs200011095	p.Ile828Met	missense variant	-	NC_000014.9:g.95436874G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754969110	p.Ile828Phe	missense variant	-	NC_000014.9:g.95436876T>A	ExAC,gnomAD
rs754969110	p.Ile828Val	missense variant	-	NC_000014.9:g.95436876T>C	ExAC,gnomAD
rs757497360	p.Ala829Thr	missense variant	-	NC_000014.9:g.95436873C>T	ExAC,TOPMed,gnomAD
rs1227025176	p.Met830Leu	missense variant	-	NC_000014.9:g.95436870T>G	gnomAD
rs1173883199	p.Thr832Ile	missense variant	-	NC_000014.9:g.95436863G>A	TOPMed
NCI-TCGA novel	p.Ser833LeuPheSerTerUnk	frameshift	-	NC_000014.9:g.95436861_95436862insG	NCI-TCGA
rs1404997897	p.Asp837Glu	missense variant	-	NC_000014.9:g.95436847G>T	TOPMed
rs758715860	p.Ser843Leu	missense variant	-	NC_000014.9:g.95436830G>A	ExAC,gnomAD
rs1331773091	p.Gln846Arg	missense variant	-	NC_000014.9:g.95436821T>C	TOPMed,gnomAD
rs767219231	p.Glu847Ter	stop gained	-	NC_000014.9:g.95433409C>A	ExAC,gnomAD
COSM4053310	p.Leu848Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95433405A>G	NCI-TCGA Cosmic
rs761615747	p.Glu849Lys	missense variant	-	NC_000014.9:g.95433403C>T	ExAC,gnomAD
rs529915336	p.Arg851Gln	missense variant	-	NC_000014.9:g.95433396C>T	TOPMed,gnomAD
rs542033506	p.Arg851Trp	missense variant	-	NC_000014.9:g.95433397G>A	ExAC,TOPMed,gnomAD
rs1056558059	p.Gly855Cys	missense variant	-	NC_000014.9:g.95433385C>A	TOPMed
rs939347179	p.Gln856Ter	stop gained	-	NC_000014.9:g.95433382G>A	TOPMed
rs775243365	p.His857Pro	missense variant	-	NC_000014.9:g.95433378T>G	ExAC,gnomAD
rs769804447	p.Leu858Val	missense variant	-	NC_000014.9:g.95433376G>C	ExAC,gnomAD
rs746997603	p.Glu860Ala	missense variant	-	NC_000014.9:g.95433369T>G	ExAC,gnomAD
rs1362090662	p.Asn861Lys	missense variant	-	NC_000014.9:g.95433365G>T	TOPMed,gnomAD
rs1486813133	p.Leu862Pro	missense variant	-	NC_000014.9:g.95433363A>G	TOPMed,gnomAD
NCI-TCGA novel	p.Leu862Ile	missense variant	-	NC_000014.9:g.95433364G>T	NCI-TCGA
NCI-TCGA novel	p.Leu863Val	missense variant	-	NC_000014.9:g.95433361G>C	NCI-TCGA
rs141951711	p.Arg864Cys	missense variant	-	NC_000014.9:g.95433358G>A	ESP,ExAC,TOPMed,gnomAD
rs17092216	p.Arg864His	missense variant	-	NC_000014.9:g.95433357C>T	UniProt,dbSNP
VAR_031232	p.Arg864His	missense variant	-	NC_000014.9:g.95433357C>T	UniProt
rs17092216	p.Arg864His	missense variant	-	NC_000014.9:g.95433357C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs889490423	p.Leu865Ile	missense variant	-	NC_000014.9:g.95433355G>T	TOPMed
rs889490423	p.Leu865Phe	missense variant	-	NC_000014.9:g.95433355G>A	TOPMed
rs1348073866	p.Gly866Glu	missense variant	-	NC_000014.9:g.95433351C>T	gnomAD
rs779223333	p.Gly866Arg	missense variant	-	NC_000014.9:g.95433352C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly866Trp	missense variant	-	NC_000014.9:g.95433352C>A	NCI-TCGA
rs370756236	p.Pro867Ser	missense variant	-	NC_000014.9:g.95433349G>A	ExAC,TOPMed,gnomAD
rs373985574	p.Arg869Ser	missense variant	-	NC_000014.9:g.95433341C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr871IlePheSerTerUnk	frameshift	-	NC_000014.9:g.95433335_95433336GG>-	NCI-TCGA
rs767202552	p.Ser872Leu	missense variant	-	NC_000014.9:g.95433333G>A	ExAC,TOPMed,gnomAD
rs751305624	p.Asp873Gly	missense variant	-	NC_000014.9:g.95433330T>C	ExAC,gnomAD
rs1265340363	p.Glu874Lys	missense variant	-	NC_000014.9:g.95433328C>T	TOPMed,gnomAD
rs1311917143	p.Glu874Asp	missense variant	-	NC_000014.9:g.95433326C>A	TOPMed
rs1205889014	p.Leu875Met	missense variant	-	NC_000014.9:g.95433325G>T	gnomAD
rs763830611	p.Asp877Tyr	missense variant	-	NC_000014.9:g.95433319C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp877Glu	missense variant	-	NC_000014.9:g.95433317A>C	NCI-TCGA
rs199512224	p.Arg879Cys	missense variant	-	NC_000014.9:g.95433313G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs199512224	p.Arg879Gly	missense variant	-	NC_000014.9:g.95433313G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1225646791	p.Arg879His	missense variant	-	NC_000014.9:g.95433312C>T	gnomAD
rs199512224	p.Arg879Ser	missense variant	-	NC_000014.9:g.95433313G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs569529532	p.Tyr880His	missense variant	-	NC_000014.9:g.95433310A>G	1000Genomes,ExAC,gnomAD
rs987276582	p.Gln881Arg	missense variant	-	NC_000014.9:g.95433306T>C	TOPMed
rs1303813624	p.Met883Thr	missense variant	-	NC_000014.9:g.95433300A>G	gnomAD
rs1388334635	p.Leu884Pro	missense variant	-	NC_000014.9:g.95433297A>G	gnomAD
COSM6141734	p.Tyr885Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95433294T>C	NCI-TCGA Cosmic
rs1292850902	p.Lys886Glu	missense variant	-	NC_000014.9:g.95433292T>C	gnomAD
rs759531353	p.Ser887Cys	missense variant	-	NC_000014.9:g.95433288G>C	ExAC,gnomAD
rs772184671	p.Leu889Met	missense variant	-	NC_000014.9:g.95433283G>T	ExAC,gnomAD
rs772184671	p.Leu889Val	missense variant	-	NC_000014.9:g.95433283G>C	ExAC,gnomAD
rs748245892	p.Asp891Asn	missense variant	-	NC_000014.9:g.95433277C>T	ExAC,gnomAD
rs116642867	p.Ser892Cys	missense variant	-	NC_000014.9:g.95433273G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116642867	p.Ser892Phe	missense variant	-	NC_000014.9:g.95433273G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1431780971	p.Gly893Ala	missense variant	-	NC_000014.9:g.95433270C>G	gnomAD
rs753631914	p.Ser899Asn	missense variant	-	NC_000014.9:g.95432110C>T	ExAC,gnomAD
rs753631914	p.Ser899Ile	missense variant	-	NC_000014.9:g.95432110C>A	ExAC,gnomAD
rs1401797401	p.Ser900Thr	missense variant	-	NC_000014.9:g.95432108A>T	gnomAD
rs766243230	p.Ser900Phe	missense variant	-	NC_000014.9:g.95432107G>A	ExAC,TOPMed,gnomAD
COSM1587724	p.Ser900Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95432107G>T	NCI-TCGA Cosmic
rs1354196722	p.Pro901Ser	missense variant	-	NC_000014.9:g.95432105G>A	TOPMed
rs751585432	p.Glu903Val	missense variant	-	NC_000014.9:g.95432098T>A	ExAC,gnomAD
rs751585432	p.Glu903Gly	missense variant	-	NC_000014.9:g.95432098T>C	ExAC,gnomAD
COSM4831715	p.Glu903Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95432099C>T	NCI-TCGA Cosmic
rs375503107	p.Pro904Leu	missense variant	-	NC_000014.9:g.95432095G>A	ESP,ExAC,TOPMed,gnomAD
rs764273195	p.Pro904Ser	missense variant	-	NC_000014.9:g.95432096G>A	ExAC,TOPMed,gnomAD
rs559676188	p.Thr905Ala	missense variant	-	NC_000014.9:g.95432093T>C	1000Genomes
rs781142957	p.Arg911Gln	missense variant	-	NC_000014.9:g.95418022C>T	ExAC,TOPMed,gnomAD
rs141381311	p.Arg911Trp	missense variant	-	NC_000014.9:g.95418023G>A	ESP,ExAC,TOPMed,gnomAD
rs370277221	p.Arg912Gly	missense variant	-	NC_000014.9:g.95418020G>C	ESP,ExAC,TOPMed,gnomAD
rs765445342	p.Arg912Gln	missense variant	-	NC_000014.9:g.95418019C>T	ExAC,TOPMed,gnomAD
rs370277221	p.Arg912Trp	missense variant	-	NC_000014.9:g.95418020G>A	ESP,ExAC,TOPMed,gnomAD
rs369096132	p.Arg914Gln	missense variant	-	NC_000014.9:g.95418013C>T	ESP,ExAC,TOPMed,gnomAD
rs566185678	p.Arg914Gly	missense variant	-	NC_000014.9:g.95418014G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs566185678	p.Arg914Ter	stop gained	-	NC_000014.9:g.95418014G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs369096132	p.Arg914Gln	missense variant	-	NC_000014.9:g.95418013C>T	NCI-TCGA
rs1379214165	p.Gly915Arg	missense variant	-	NC_000014.9:g.95418011C>T	gnomAD
rs912858087	p.Gly917Cys	missense variant	-	NC_000014.9:g.95418005C>A	gnomAD
rs766717375	p.Leu919Ile	missense variant	-	NC_000014.9:g.95417999G>T	ExAC,gnomAD
rs766717375	p.Leu919Val	missense variant	-	NC_000014.9:g.95417999G>C	ExAC,gnomAD
rs746262942	p.Arg921Gly	missense variant	-	NC_000014.9:g.95417993G>C	ExAC,TOPMed,gnomAD
rs762269580	p.Arg921Gln	missense variant	-	NC_000014.9:g.95417992C>T	ExAC,TOPMed,gnomAD
rs746262942	p.Arg921Trp	missense variant	-	NC_000014.9:g.95417993G>A	ExAC,TOPMed,gnomAD
COSM3815612	p.Arg922Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95417990T>C	NCI-TCGA Cosmic
rs12434757	p.Ala923Val	missense variant	-	NC_000014.9:g.95417986G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1274160190	p.Ala923Thr	missense variant	-	NC_000014.9:g.95417987C>T	gnomAD
rs748810369	p.Cys924Arg	missense variant	-	NC_000014.9:g.95417984A>G	ExAC,gnomAD
rs142276866	p.Ala927Val	missense variant	-	NC_000014.9:g.95417974G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142276866	p.Ala927Val	missense variant	-	NC_000014.9:g.95417974G>A	NCI-TCGA
rs1308073493	p.Leu928Phe	missense variant	-	NC_000014.9:g.95417972G>A	gnomAD
rs375097470	p.Leu930Pro	missense variant	-	NC_000014.9:g.95417965A>G	ESP,ExAC,TOPMed,gnomAD
rs1368222140	p.Leu932Met	missense variant	-	NC_000014.9:g.95417960G>T	TOPMed,gnomAD
rs1414752467	p.Leu933Arg	missense variant	-	NC_000014.9:g.95417956A>C	gnomAD
rs1170613183	p.Leu938Phe	missense variant	-	NC_000014.9:g.95417942G>A	TOPMed,gnomAD
rs779120100	p.Leu939Phe	missense variant	-	NC_000014.9:g.95417939G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu941CysPheSerTerUnkUnkUnk	frameshift	-	NC_000014.9:g.95417934C>-	NCI-TCGA
NCI-TCGA novel	p.Leu941ArgPheSerTerUnkUnkUnk	frameshift	-	NC_000014.9:g.95417932A>-	NCI-TCGA
rs1211002440	p.Leu943Pro	missense variant	-	NC_000014.9:g.95417926A>G	TOPMed,gnomAD
rs750772416	p.Leu944Phe	missense variant	-	NC_000014.9:g.95417924G>A	ExAC,gnomAD
rs762297360	p.Pro945Arg	missense variant	-	NC_000014.9:g.95417920G>C	ExAC,TOPMed,gnomAD
rs767839740	p.Pro945Ala	missense variant	-	NC_000014.9:g.95417921G>C	ExAC,gnomAD
rs10130647	p.Ile946Val	missense variant	-	NC_000014.9:g.95417918T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs764589082	p.Glu948Gly	missense variant	-	NC_000014.9:g.95417911T>C	ExAC
rs1348084419	p.Glu948Lys	missense variant	-	NC_000014.9:g.95417912C>T	gnomAD
NCI-TCGA novel	p.Glu949Ala	missense variant	-	NC_000014.9:g.95417908T>G	NCI-TCGA
rs200254064	p.Arg951Cys	missense variant	-	NC_000014.9:g.95417903G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs540014645	p.Arg951His	missense variant	-	NC_000014.9:g.95417902C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs540014645	p.Arg951His	missense variant	-	NC_000014.9:g.95417902C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1331833780	p.Ser952Asn	missense variant	-	NC_000014.9:g.95417899C>T	gnomAD
rs745545054	p.Cys953Ser	missense variant	-	NC_000014.9:g.95417897A>T	ExAC,gnomAD
rs770687063	p.Thr954Ala	missense variant	-	NC_000014.9:g.95417894T>C	ExAC,gnomAD
rs1247110991	p.Thr954Asn	missense variant	-	NC_000014.9:g.95417893G>T	TOPMed
rs150752116	p.Ala956Ser	missense variant	-	NC_000014.9:g.95417888C>A	ESP,ExAC,TOPMed,gnomAD
rs144399075	p.Asn958Ser	missense variant	-	NC_000014.9:g.95417881T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749360218	p.Ala960Thr	missense variant	-	NC_000014.9:g.95417876C>T	ExAC,TOPMed,gnomAD
rs146368343	p.Arg961His	missense variant	-	NC_000014.9:g.95417872C>T	ESP,ExAC,TOPMed,gnomAD
rs778693061	p.Arg961Cys	missense variant	-	NC_000014.9:g.95417873G>A	ExAC,TOPMed,gnomAD
rs750670879	p.Phe963Leu	missense variant	-	NC_000014.9:g.95417867A>G	ExAC,gnomAD
rs368574040	p.Thr964Met	missense variant	-	NC_000014.9:g.95417863G>A	ESP,ExAC,TOPMed,gnomAD
rs368574040	p.Thr964Lys	missense variant	-	NC_000014.9:g.95417863G>T	ESP,ExAC,TOPMed,gnomAD
rs752219918	p.Leu967Arg	missense variant	-	NC_000014.9:g.95417854A>C	ExAC,gnomAD
rs759211520	p.Arg968His	missense variant	-	NC_000014.9:g.95417851C>T	ExAC,TOPMed,gnomAD
rs759211520	p.Arg968Leu	missense variant	-	NC_000014.9:g.95417851C>A	NCI-TCGA
rs759211520	p.Arg968Leu	missense variant	-	NC_000014.9:g.95417851C>A	ExAC,TOPMed,gnomAD
rs764718779	p.Arg968Cys	missense variant	-	NC_000014.9:g.95417852G>A	ExAC,TOPMed,gnomAD
rs764718779	p.Arg968Cys	missense variant	-	NC_000014.9:g.95417852G>A	NCI-TCGA,NCI-TCGA Cosmic
COSM6076795	p.Gly971Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000014.9:g.95417842C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly971Asp	missense variant	-	NC_000014.9:g.95417842C>T	NCI-TCGA
rs776086121	p.Pro973Arg	missense variant	-	NC_000014.9:g.95417836G>C	ExAC,gnomAD
rs770618182	p.Pro974Ser	missense variant	-	NC_000014.9:g.95417834G>A	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006826	Malignant Neoplasms	group	BEFREE
C0202022	Follicle stimulating hormone measurement	phenotype	GWASCAT
C1306459	Primary malignant neoplasm	group	BEFREE
C3888090	Early onset torsion dystonia	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0051015	actin filament binding	IBA
GO:0051015	actin filament binding	IMP

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007010	cytoskeleton organization	IMP
GO:0007097	nuclear migration	IBA
GO:0008360	regulation of cell shape	IMP
GO:0051647	nucleus localization	IBA
GO:0090150	establishment of protein localization to membrane	IDA
GO:0090286	cytoskeletal anchoring at nuclear membrane	IDA
GO:0090286	cytoskeletal anchoring at nuclear membrane	IBA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005623	cell	IEA
GO:0005635	nuclear envelope	IDA
GO:0005640	nuclear outer membrane	IBA
GO:0005737	cytoplasm	IBA
GO:0005791	rough endoplasmic reticulum	IEA
GO:0016020	membrane	HDA
GO:0016021	integral component of membrane	IEA
GO:0031965	nuclear membrane	IDA
GO:0034993	meiotic nuclear membrane microtubule tethering complex	IDA
GO:0034993	meiotic nuclear membrane microtubule tethering complex	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Panobinostat 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 SYNE3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SYNE3 mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SYNE3 mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of SYNE3 mRNA	26238291
C020738	9,10-dihydro-9,10-dihydroxybenzo(a)pyrene	9,10-dihydro-9,10-dihydroxybenzo(a)pyrene results in decreased expression of SYNE3 mRNA	26238291
C496492	abrine	abrine results in increased expression of SYNE3 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in decreased expression of SYNE3 mRNA	21420995
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of SYNE3 gene	27153756
C029753	aflatoxin B2	aflatoxin B2 results in increased methylation of SYNE3 3' UTR	30157460
D001151	Arsenic	Arsenic affects the methylation of SYNE3 gene	25304211
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of SYNE3 mRNA	22316170; 26238291;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of SYNE3 mRNA	27195522
C006780	bisphenol A	bisphenol A results in increased expression of SYNE3 mRNA	29275510
C006780	bisphenol A	bisphenol A affects the expression of SYNE3 mRNA	25181051
C006780	bisphenol A	[bisphenol A co-treated with Genistein] results in decreased methylation of SYNE3 gene	28505145
D016572	Cyclosporine	Cyclosporine results in increased expression of SYNE3 mRNA	25562108; 27989131;
D003671	DEET	[fipronil co-treated with DEET] results in decreased expression of SYNE3 mRNA	28991164
D003907	Dexamethasone	Dexamethasone results in increased expression of SYNE3 mRNA	25047013
C516138	dorsomorphin	[NOG protein co-treated with Panobinostat 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 SYNE3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SYNE3 mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SYNE3 mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of SYNE3 mRNA	29803840
D013759	Dronabinol	Dronabinol affects the methylation of SYNE3 gene	26044905
D004958	Estradiol	[Estradiol binds to ESR2 protein] which results in increased expression of SYNE3 mRNA	20404318
D017313	Fenretinide	Fenretinide results in decreased expression of SYNE3 mRNA	28973697
C082360	fipronil	[fipronil co-treated with DEET] results in decreased expression of SYNE3 mRNA	28991164
D005557	Formaldehyde	Formaldehyde results in increased expression of SYNE3 mRNA	27664576
C039281	furan	furan results in decreased expression of SYNE3 mRNA	25539665
D019833	Genistein	[bisphenol A co-treated with Genistein] results in decreased methylation of SYNE3 gene	28505145
C004312	glycidol	glycidol results in decreased expression of SYNE3 mRNA	24395379
C000593030	GSK-J4	GSK-J4 results in decreased expression of SYNE3 mRNA	29301935
C545476	incobotulinumtoxinA	incobotulinumtoxinA results in increased expression of SYNE3 mRNA	29522793
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in decreased expression of SYNE3 mRNA	23086925
C028473	N-acetyl-4-benzoquinoneimine	SYNE3 gene SNP affects the susceptibility to N-acetyl-4-benzoquinoneimine	21177773
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of SYNE3 mRNA	25554681
D010100	Oxygen	Oxygen deficiency results in decreased expression of SYNE3 mRNA	26516004
D000077767	Panobinostat	[NOG protein co-treated with Panobinostat 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 SYNE3 mRNA	27188386
D000077767	Panobinostat	Panobinostat results in increased expression of SYNE3 mRNA	26272509
D052638	Particulate Matter	Particulate Matter results in increased expression of SYNE3 mRNA	28366736
D052638	Particulate Matter	SYNE3 promotes the reaction [Particulate Matter results in increased expression of CDKN1A mRNA]	28366736
D052638	Particulate Matter	SYNE3 promotes the reaction [Particulate Matter results in increased expression of CDKN1A protein]	28366736
C086401	pentabromodiphenyl ether	pentabromodiphenyl ether results in increased expression of SYNE3 mRNA	26705709
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of SYNE3 mRNA	27188386
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of SYNE3 mRNA	24780913
D000077185	Resveratrol	Resveratrol results in decreased expression of SYNE3 protein	25505154
D012822	Silicon Dioxide	Silicon Dioxide results in decreased expression of SYNE3 mRNA	25351596
D012834	Silver	Silver results in increased expression of SYNE3 mRNA	27131904
D000077210	Sunitinib	Sunitinib results in increased expression of SYNE3 mRNA	31533062
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of SYNE3 mRNA	28065790
D014212	Tretinoin	Tretinoin results in decreased expression of SYNE3 mRNA	23724009
D014520	Urethane	Urethane results in decreased expression of SYNE3 mRNA	28818685
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 SYNE3 mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in increased expression of SYNE3 mRNA	23179753; 24383497; 26272509; 28001369;
D014635	Valproic Acid	Valproic Acid results in increased methylation of SYNE3 gene	29154799
D001335	Vehicle Emissions	Vehicle Emissions results in decreased methylation of SYNE3 gene	25560391
D024483	Vitamin K 3	Vitamin K 3 affects the expression of SYNE3 mRNA	20044591

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0175	Coiled coil
KW-1015	Disulfide bond
KW-0256	Endoplasmic reticulum
KW-0472	Membrane
KW-0539	Nucleus
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0812	Transmembrane
KW-1133	Transmembrane helix

Interpro

InterPro ID	InterPro Term
IPR012315	KASH
IPR018159	Spectrin/alpha-actinin
IPR002017	Spectrin_repeat
IPR030267	SYNE3

PROSITE

PROSITE ID	PROSITE Term
PS51049	KASH

Pfam

Pfam ID	Pfam Term
PF10541	KASH
PF00435	Spectrin

Gene: SYNE3

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction