CleftGeneDB-Search

Gene: CCP110

Basic information

Tag	Content
Uniprot ID	O43303; B7WP23; O43335; Q68DV9; Q8NE13;
Entrez ID	9738
Genbank protein ID	AAH36654.1; BAA24849.2; AAC05804.1; CAH18111.1;
Genbank nucleotide ID	NM_001323572.1; XM_017023908.1; NM_001323570.1; NM_001323569.1; NM_001323571.1; XM_011545991.2; XM_011545992.2; NM_001199022.2; NM_014711.5;
Ensembl protein ID	ENSP00000379515; ENSP00000379511; ENSP00000370803;
Ensembl nucleotide ID	ENSG00000103540
Gene name	Centriolar coiled-coil protein of 110 kDa
Gene symbol	CCP110
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Necessary for centrosome duplication at different stages of procentriole formation. Acts as a key negative regulator of ciliogenesis in collaboration with CEP97 by capping the mother centriole thereby preventing cilia formation (PubMed:17719545 PubMed:17681131, PubMed:23486064). Also involved in promoting ciliogenesis. May play a role in the assembly of the mother centriole subdistal appendages (SDA) thereby effecting the fusion of recycling endosomes to basal bodies during cilia formation (By similarity). Required for correct spindle formation and has a role in regulating cytokinesis and genome stability via cooperation with CALM1 and CETN2 (PubMed:16760425).
Sequence	MEEYEKFCEK SLARIQEASL STESFLPAQS ESISLIRFHG VAILSPLLNI EKRKEMQQEK 60 QKALDVEARK QVNRKKALLT RVQEILDNVQ VRKAPNASDF DQWEMETVYS NSEVRNLNVP 120 ATFPNSFPSH TEHSTAAKLD KIAGILPLDN EDQCKTDGID LARDSEGFNS PKQCDSSNIS 180 HVENEAFPKT SSATPQETLI SDGPFSVNEQ QDLPLLAEVI PDPYVMSLQN LMKKSKEYIE 240 REQSRRSLRG SINRIVNESH LDKEHDAVEV ADCVKEKGQL TGKHCVSVIP DKPSLNKSNV 300 LLQGASTQAS SMSMPVLASF SKVDIPIRTG HPTVLESNSD FKVIPTFVTE NNVIKSLTGS 360 YAKLPSPEPS MSPKMHRRRS RTSSACHILI NNPINACELS PKGKEQAMDL IIQDTDENTN 420 VPEIMPKLPT DLAGVCSSKV YVGKNTSEVK EDVVLGKSNQ VCQSSGNHLE NKVTHGLVTV 480 EGQLTSDERG AHIMNSTCAA MPKLHEPYAS SQCIASPNFG TVSGLKPASM LEKNCSLQTE 540 LNKSYDVKNP SPLLMQNQNT RQQMDTPMVS CGNEQFLDNS FEKVKRRLDL DIDGLQKENC 600 PYVITSGITE QERQHLPEKR YPKGSGFVNK NKMLGTSSKE SEELLKSKML AFEEMRKRLE 660 EQHAQQLSLL IAEQEREQER LQKEIEEQEK MLKEKKAMTA EASELDINNA VELEWRKISD 720 SSLLETMLSQ ADSLHTSNSN SSGFTNSAMQ YSFVSANEAP FYLWGSSTSG LTKLSVTRPF 780 GRAKTRWSQV FSLEIQAKFN KITAVAKGFL TRRLMQTDKL KQLRQTVKDT MEFIRSFQSE 840 APLKRGIVSA QDASLQERVL AQLRAALYGI HDIFFVMDAA ERMSILHHDR EVRKEKMLRQ 900 MDKMKSPRVA LSAATQKSLD RKKYMKAAEM GMPNKKFLVK QNPSETRVLQ PNQGQNAPVH 960 RLLSRQGTPK TSVKGVVQNR QKPSQSRVPN RVPVSGVYAG KIQRKRPNVA TI 1012

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	CCP110	538197	E1BGQ5		Bos taurus	Prediction	More>>
1:1 ortholog	CCP110	479826	E2RH04		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	CCP110	102177491	A0A452FJA1		Capra hircus	Prediction	More>>
1:1 ortholog	CCP110	100049946	F6QQC1		Equus caballus	Prediction	More>>
1:1 ortholog	CCP110	9738	O43303		Homo sapiens	Prediction	More>>
1:1 ortholog	Ccp110	101565	Q7TSH4	CPO	Mus musculus	Publication	More>>
1:1 ortholog	CCP110	741286	H2QKP3		Pan troglodytes	Prediction	More>>
1:1 ortholog	CCP110	100623654	A0A287A2Q4		Sus scrofa	Prediction	More>>
1:1 ortholog	Ccp110	361634	D4A3J9		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs780183583	p.Glu3Lys	missense variant	-	NC_000016.10:g.19527888G>A	ExAC,TOPMed,gnomAD
rs1349897885	p.Glu5Asp	missense variant	-	NC_000016.10:g.19527896G>C	gnomAD
rs777739976	p.Lys6Thr	missense variant	-	NC_000016.10:g.19527898A>C	ExAC,TOPMed,gnomAD
rs1477988292	p.Phe7Leu	missense variant	-	NC_000016.10:g.19527900T>C	TOPMed
rs1319614794	p.Leu12Ile	missense variant	-	NC_000016.10:g.19527915C>A	gnomAD
rs145642339	p.Ile15Met	missense variant	-	NC_000016.10:g.19527926A>G	ESP,ExAC,TOPMed,gnomAD
rs776088469	p.Ile15Val	missense variant	-	NC_000016.10:g.19527924A>G	ExAC,TOPMed,gnomAD
rs778583507	p.Gln16Ter	stop gained	-	NC_000016.10:g.19527927C>T	ExAC,gnomAD
rs775233711	p.Ala18Thr	missense variant	-	NC_000016.10:g.19527933G>A	ExAC,gnomAD
rs1422297183	p.Thr22Pro	missense variant	-	NC_000016.10:g.19527945A>C	gnomAD
rs777342846	p.Glu23Gln	missense variant	-	NC_000016.10:g.19527948G>C	ExAC,gnomAD
COSM3506743	p.Pro27Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19527960C>T	NCI-TCGA Cosmic
rs1427054544	p.Pro27Leu	missense variant	-	NC_000016.10:g.19527961C>T	gnomAD
rs149107701	p.Leu35Phe	missense variant	-	NC_000016.10:g.19527984C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1029428552	p.Arg37Cys	missense variant	-	NC_000016.10:g.19527990C>T	gnomAD
rs1395120292	p.Arg37His	missense variant	-	NC_000016.10:g.19527991G>A	TOPMed,gnomAD
COSM1301685	p.His39Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19527996C>T	NCI-TCGA Cosmic
rs1322972178	p.Gly40Arg	missense variant	-	NC_000016.10:g.19527999G>A	gnomAD
rs1225604464	p.Gly40Glu	missense variant	-	NC_000016.10:g.19528000G>A	gnomAD
rs1273827088	p.Ile43Val	missense variant	-	NC_000016.10:g.19528008A>G	gnomAD
rs1342859664	p.Leu44Phe	missense variant	-	NC_000016.10:g.19528011C>T	gnomAD
rs774625038	p.Leu48Ile	missense variant	-	NC_000016.10:g.19532416C>A	ExAC,gnomAD
rs774625038	p.Leu48Phe	missense variant	-	NC_000016.10:g.19532416C>T	ExAC,gnomAD
rs752747163	p.Glu51Lys	missense variant	-	NC_000016.10:g.19532425G>A	ExAC
NCI-TCGA novel	p.Glu51Gln	missense variant	-	NC_000016.10:g.19532425G>C	NCI-TCGA
rs200304057	p.Lys52Thr	missense variant	-	NC_000016.10:g.19532429A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1432345217	p.Arg53Thr	missense variant	-	NC_000016.10:g.19532432G>C	gnomAD
COSM280090	p.Arg53Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19532432G>T	NCI-TCGA Cosmic
rs1272969952	p.Met56Ile	missense variant	-	NC_000016.10:g.19532442G>A	gnomAD
rs1219530666	p.Gln58Lys	missense variant	-	NC_000016.10:g.19532446C>A	gnomAD
rs750342809	p.Glu59Lys	missense variant	-	NC_000016.10:g.19532449G>A	ExAC,TOPMed,gnomAD
rs750342809	p.Glu59Ter	stop gained	-	NC_000016.10:g.19532449G>T	ExAC,TOPMed,gnomAD
rs758334564	p.Lys62Glu	missense variant	-	NC_000016.10:g.19532458A>G	ExAC,gnomAD
rs1013038359	p.Ala63Glu	missense variant	-	NC_000016.10:g.19532462C>A	TOPMed
rs779980261	p.Val66Ala	missense variant	-	NC_000016.10:g.19532471T>C	ExAC,gnomAD
rs1267791973	p.Val66Leu	missense variant	-	NC_000016.10:g.19532470G>T	gnomAD
rs968930617	p.Glu67Val	missense variant	-	NC_000016.10:g.19532474A>T	TOPMed,gnomAD
rs1003764439	p.Glu67Lys	missense variant	-	NC_000016.10:g.19532473G>A	TOPMed,gnomAD
COSM967896	p.Arg69Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19532480G>T	NCI-TCGA Cosmic
rs751344225	p.Gln71Pro	missense variant	-	NC_000016.10:g.19532486A>C	ExAC,gnomAD
rs1465581469	p.Asn73Ser	missense variant	-	NC_000016.10:g.19532492A>G	TOPMed
rs754684122	p.Lys76Glu	missense variant	-	NC_000016.10:g.19532500A>G	ExAC,TOPMed,gnomAD
rs1173862839	p.Leu78Val	missense variant	-	NC_000016.10:g.19532506T>G	TOPMed
rs780858604	p.Leu78Ser	missense variant	-	NC_000016.10:g.19532507T>C	ExAC,gnomAD
rs1157931568	p.Thr80Pro	missense variant	-	NC_000016.10:g.19532512A>C	gnomAD
rs778186966	p.Arg81His	missense variant	-	NC_000016.10:g.19532516G>A	ExAC,gnomAD
rs367817294	p.Arg81Gly	missense variant	-	NC_000016.10:g.19532515C>G	ESP,ExAC,TOPMed,gnomAD
rs367817294	p.Arg81Cys	missense variant	-	NC_000016.10:g.19532515C>T	ESP,ExAC,TOPMed,gnomAD
rs749793932	p.Val82Ala	missense variant	-	NC_000016.10:g.19532519T>C	ExAC,gnomAD
rs1285098244	p.Gln83Glu	missense variant	-	NC_000016.10:g.19532521C>G	TOPMed,gnomAD
rs771367358	p.Gln83Arg	missense variant	-	NC_000016.10:g.19532522A>G	ExAC,gnomAD
rs1437142485	p.Leu86Ile	missense variant	-	NC_000016.10:g.19532530C>A	gnomAD
rs1348368122	p.Asn88Lys	missense variant	-	NC_000016.10:g.19532538T>G	gnomAD
rs774698755	p.Asn88Ser	missense variant	-	NC_000016.10:g.19532537A>G	ExAC,TOPMed,gnomAD
rs1197739054	p.Arg92Gly	missense variant	-	NC_000016.10:g.19535943A>G	gnomAD
rs367940434	p.Ala94Val	missense variant	-	NC_000016.10:g.19535950C>T	ESP,ExAC,gnomAD
rs766354418	p.Asn96Asp	missense variant	-	NC_000016.10:g.19535955A>G	ExAC,TOPMed,gnomAD
rs1408973914	p.Asn96Ile	missense variant	-	NC_000016.10:g.19535956A>T	TOPMed,gnomAD
NCI-TCGA novel	p.Asn96Ser	missense variant	-	NC_000016.10:g.19535956A>G	NCI-TCGA
rs537803910	p.Ser98Asn	missense variant	-	NC_000016.10:g.19535962G>A	1000Genomes,ExAC,gnomAD
rs751432098	p.Ser98Gly	missense variant	-	NC_000016.10:g.19535961A>G	ExAC,gnomAD
COSM1376292	p.Asp99Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19535964G>T	NCI-TCGA Cosmic
rs752367436	p.Trp103Arg	missense variant	-	NC_000016.10:g.19535976T>C	ExAC,gnomAD
rs755649388	p.Met105Val	missense variant	-	NC_000016.10:g.19535982A>G	ExAC,gnomAD
rs561301333	p.Met105Thr	missense variant	-	NC_000016.10:g.19535983T>C	ExAC,TOPMed,gnomAD
rs748726525	p.Glu106Lys	missense variant	-	NC_000016.10:g.19535985G>A	ExAC,gnomAD
rs1204802177	p.Ser110Cys	missense variant	-	NC_000016.10:g.19535998C>G	TOPMed,gnomAD
rs771457131	p.Ser110Pro	missense variant	-	NC_000016.10:g.19535997T>C	ExAC,TOPMed,gnomAD
rs1253026018	p.Asn111Ser	missense variant	-	NC_000016.10:g.19536001A>G	TOPMed,gnomAD
rs779339856	p.Arg115Gly	missense variant	-	NC_000016.10:g.19536012A>G	ExAC,gnomAD
rs1180722598	p.Val119Ile	missense variant	-	NC_000016.10:g.19536024G>A	gnomAD
rs775640437	p.Phe123Ile	missense variant	-	NC_000016.10:g.19536036T>A	ExAC,TOPMed,gnomAD
rs776778626	p.Ser126Arg	missense variant	-	NC_000016.10:g.19536047C>G	ExAC,TOPMed,gnomAD
rs768700653	p.Ser126Asn	missense variant	-	NC_000016.10:g.19536046G>A	ExAC,gnomAD
rs76903460	p.Pro128Gln	missense variant	-	NC_000016.10:g.19536052C>A	ExAC,gnomAD
COSM3506745	p.Pro128Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536051C>T	NCI-TCGA Cosmic
rs1175113347	p.Ser129Ile	missense variant	-	NC_000016.10:g.19536055G>T	gnomAD
rs1398398617	p.Ser129Arg	missense variant	-	NC_000016.10:g.19536056C>G	TOPMed,gnomAD
rs372440972	p.Thr131Arg	missense variant	-	NC_000016.10:g.19536061C>G	ESP,ExAC,gnomAD
rs372440972	p.Thr131Lys	missense variant	-	NC_000016.10:g.19536061C>A	ESP,ExAC,gnomAD
rs372440972	p.Thr131Met	missense variant	-	NC_000016.10:g.19536061C>T	ESP,ExAC,gnomAD
rs767342328	p.Glu132Gly	missense variant	-	NC_000016.10:g.19536064A>G	ExAC,gnomAD
rs368558634	p.His133Asp	missense variant	-	NC_000016.10:g.19536066C>G	ESP,ExAC,TOPMed,gnomAD
rs368558634	p.His133Tyr	missense variant	-	NC_000016.10:g.19536066C>T	ESP,ExAC,TOPMed,gnomAD
rs1217775490	p.Ser134Ala	missense variant	-	NC_000016.10:g.19536069T>G	TOPMed
rs1317258550	p.Thr135Pro	missense variant	-	NC_000016.10:g.19536072A>C	gnomAD
rs763610593	p.Thr135Ile	missense variant	-	NC_000016.10:g.19536073C>T	ExAC,gnomAD
rs1317258550	p.Thr135Ala	missense variant	-	NC_000016.10:g.19536072A>G	gnomAD
rs777629097	p.Ala136Ser	missense variant	-	NC_000016.10:g.19536075G>T	gnomAD
rs1252455005	p.Ala136Val	missense variant	-	NC_000016.10:g.19536076C>T	gnomAD
rs1347502189	p.Ala137Val	missense variant	-	NC_000016.10:g.19536079C>T	TOPMed
rs1254480986	p.Leu139Pro	missense variant	-	NC_000016.10:g.19536085T>C	TOPMed
rs1277456209	p.Asp140Val	missense variant	-	NC_000016.10:g.19536088A>T	gnomAD
rs779435583	p.Lys141Met	missense variant	-	NC_000016.10:g.19536091A>T	ExAC,gnomAD
rs1395576529	p.Ile142Leu	missense variant	-	NC_000016.10:g.19536093A>T	gnomAD
rs1184835116	p.Ala143Val	missense variant	-	NC_000016.10:g.19536097C>T	TOPMed,gnomAD
rs545746288	p.Gly144Glu	missense variant	-	NC_000016.10:g.19536100G>A	1000Genomes,ExAC,gnomAD
rs1312863275	p.Asp149Asn	missense variant	-	NC_000016.10:g.19536114G>A	TOPMed
rs1448746422	p.Asp152Glu	missense variant	-	NC_000016.10:g.19536125C>G	gnomAD
rs1294887680	p.Gln153Leu	missense variant	-	NC_000016.10:g.19536127A>T	TOPMed
rs758746089	p.Cys154Tyr	missense variant	-	NC_000016.10:g.19536130G>A	ExAC,gnomAD
rs780478690	p.Lys155Asn	missense variant	-	NC_000016.10:g.19536134A>C	ExAC,gnomAD
rs1304924670	p.Asp160Gly	missense variant	-	NC_000016.10:g.19536148A>G	TOPMed,gnomAD
rs747271722	p.Ala162Val	missense variant	-	NC_000016.10:g.19536154C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg163Thr	missense variant	-	NC_000016.10:g.19536157G>C	NCI-TCGA
rs1171843911	p.Asp164Tyr	missense variant	-	NC_000016.10:g.19536159G>T	gnomAD
rs1470443267	p.Glu166Lys	missense variant	-	NC_000016.10:g.19536165G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Phe168Cys	missense variant	-	NC_000016.10:g.19536172T>G	NCI-TCGA
rs1400372438	p.Asn169Lys	missense variant	-	NC_000016.10:g.19536176T>G	TOPMed
RCV000454470	p.Pro171Leu	missense variant	-	NC_000016.10:g.19536181C>T	ClinVar
rs3751821	p.Pro171Leu	missense variant	-	NC_000016.10:g.19536181C>T	UniProt,dbSNP
VAR_056789	p.Pro171Leu	missense variant	-	NC_000016.10:g.19536181C>T	UniProt
rs3751821	p.Pro171Leu	missense variant	-	NC_000016.10:g.19536181C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1404211740	p.Lys172Gln	missense variant	-	NC_000016.10:g.19536183A>C	gnomAD
rs202061336	p.Lys172Asn	missense variant	-	NC_000016.10:g.19536185G>C	1000Genomes,TOPMed
rs1434511311	p.Gln173Lys	missense variant	-	NC_000016.10:g.19536186C>A	gnomAD
rs774501610	p.Ser176Arg	missense variant	-	NC_000016.10:g.19536195A>C	ExAC,gnomAD
rs138700121	p.Ser177Cys	missense variant	-	NC_000016.10:g.19536199C>G	ESP,TOPMed,gnomAD
rs759506196	p.Asn178His	missense variant	-	NC_000016.10:g.19536201A>C	ExAC,gnomAD
rs1169094120	p.Asn178Ser	missense variant	-	NC_000016.10:g.19536202A>G	TOPMed
rs1323759440	p.Ser180Gly	missense variant	-	NC_000016.10:g.19536207A>G	gnomAD
rs1477155411	p.His181Arg	missense variant	-	NC_000016.10:g.19536211A>G	TOPMed
NCI-TCGA novel	p.Phe187LeuPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.19536229_19536230insGC	NCI-TCGA
rs919849177	p.Phe187Leu	missense variant	-	NC_000016.10:g.19536228T>C	TOPMed,gnomAD
rs865892894	p.Pro188Arg	missense variant	-	NC_000016.10:g.19536232C>G	TOPMed
NCI-TCGA novel	p.Pro188Ala	missense variant	-	NC_000016.10:g.19536231C>G	NCI-TCGA
rs1265911341	p.Thr190Pro	missense variant	-	NC_000016.10:g.19536237A>C	gnomAD
rs1310449699	p.Thr190Asn	missense variant	-	NC_000016.10:g.19536238C>A	gnomAD
rs1265911341	p.Thr190Ser	missense variant	-	NC_000016.10:g.19536237A>T	gnomAD
rs775384062	p.Ser192Thr	missense variant	-	NC_000016.10:g.19536243T>A	ExAC,gnomAD
rs372309095	p.Ala193Val	missense variant	-	NC_000016.10:g.19536247C>T	gnomAD
rs760336340	p.Gln196Arg	missense variant	-	NC_000016.10:g.19536256A>G	ExAC,gnomAD
rs1197851197	p.Leu199Val	missense variant	-	NC_000016.10:g.19536264C>G	gnomAD
rs763852975	p.Ser201Pro	missense variant	-	NC_000016.10:g.19536270T>C	ExAC,gnomAD
rs1178811987	p.Asp202Glu	missense variant	-	NC_000016.10:g.19536275T>G	gnomAD
rs753453790	p.Gly203Asp	missense variant	-	NC_000016.10:g.19536277G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro204Leu	missense variant	-	NC_000016.10:g.19536280C>T	NCI-TCGA
NCI-TCGA novel	p.Pro204Ser	missense variant	-	NC_000016.10:g.19536279C>T	NCI-TCGA
rs1387686163	p.Ser206Pro	missense variant	-	NC_000016.10:g.19536285T>C	gnomAD
rs372913262	p.Val207Ile	missense variant	-	NC_000016.10:g.19536288G>A	ESP,ExAC,TOPMed,gnomAD
rs749875348	p.Asn208Ser	missense variant	-	NC_000016.10:g.19536292A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu209Lys	missense variant	-	NC_000016.10:g.19536294G>A	NCI-TCGA
rs758947488	p.Gln210Arg	missense variant	-	NC_000016.10:g.19536298A>G	ExAC,gnomAD
COSM3420807	p.Leu215Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536312C>A	NCI-TCGA Cosmic
rs908642725	p.Leu216Ser	missense variant	-	NC_000016.10:g.19536316T>C	TOPMed,gnomAD
rs780386195	p.Val219Phe	missense variant	-	NC_000016.10:g.19536324G>T	ExAC,gnomAD
rs770483196	p.Asp222Tyr	missense variant	-	NC_000016.10:g.19536333G>T	ExAC,TOPMed,gnomAD
rs770483196	p.Asp222His	missense variant	-	NC_000016.10:g.19536333G>C	ExAC,TOPMed,gnomAD
COSM3506747	p.Pro223Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536336C>T	NCI-TCGA Cosmic
rs755275580	p.Tyr224Cys	missense variant	-	NC_000016.10:g.19536340A>G	ExAC,gnomAD
NCI-TCGA novel	p.Met226Ile	missense variant	-	NC_000016.10:g.19536347G>C	NCI-TCGA
rs781605849	p.Met226Thr	missense variant	-	NC_000016.10:g.19536346T>C	ExAC,gnomAD
rs748380117	p.Asn230Lys	missense variant	-	NC_000016.10:g.19536359T>A	ExAC,gnomAD
rs375849116	p.Leu231Met	missense variant	-	NC_000016.10:g.19536360C>A	ESP,gnomAD
rs770058833	p.Lys233Asn	missense variant	-	NC_000016.10:g.19536368A>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys236Thr	missense variant	-	NC_000016.10:g.19536376A>C	NCI-TCGA
rs1365632297	p.Tyr238Cys	missense variant	-	NC_000016.10:g.19536382A>G	TOPMed,gnomAD
rs780956167	p.Tyr238His	missense variant	-	NC_000016.10:g.19536381T>C	ExAC,gnomAD
rs749284848	p.Ile239Val	missense variant	-	NC_000016.10:g.19536384A>G	ExAC,TOPMed,gnomAD
rs1366811165	p.Gln243His	missense variant	-	NC_000016.10:g.19536398A>T	gnomAD
rs369241568	p.Gln243Ter	stop gained	-	NC_000016.10:g.19536396C>T	ESP,ExAC,TOPMed,gnomAD
rs369241568	p.Gln243Glu	missense variant	-	NC_000016.10:g.19536396C>G	ESP,ExAC,TOPMed,gnomAD
rs1339675595	p.Ser244Cys	missense variant	-	NC_000016.10:g.19536400C>G	TOPMed
rs760554250	p.Arg246His	missense variant	-	NC_000016.10:g.19536406G>A	ExAC,TOPMed,gnomAD
rs775264049	p.Arg246Cys	missense variant	-	NC_000016.10:g.19536405C>T	ExAC,TOPMed,gnomAD
rs760554250	p.Arg246Leu	missense variant	-	NC_000016.10:g.19536406G>T	ExAC,TOPMed,gnomAD
rs1402442413	p.Ser247Arg	missense variant	-	NC_000016.10:g.19536410T>G	TOPMed
NCI-TCGA novel	p.Ser247Ile	missense variant	-	NC_000016.10:g.19536409G>T	NCI-TCGA
rs763871078	p.Leu248Pro	missense variant	-	NC_000016.10:g.19536412T>C	ExAC,TOPMed,gnomAD
rs763871078	p.Leu248Arg	missense variant	-	NC_000016.10:g.19536412T>G	ExAC,TOPMed,gnomAD
rs776323044	p.Ser251Asn	missense variant	-	NC_000016.10:g.19536421G>A	ExAC,gnomAD
rs226891	p.Ile252Met	missense variant	-	NC_000016.10:g.19536425C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761466549	p.Ile252Ser	missense variant	-	NC_000016.10:g.19536424T>G	ExAC,gnomAD
RCV000455139	p.Ile252Met	missense variant	-	NC_000016.10:g.19536425C>G	ClinVar
rs1172027973	p.Asn253Lys	missense variant	-	NC_000016.10:g.19536428C>G	TOPMed
rs1243514857	p.Arg254Ser	missense variant	-	NC_000016.10:g.19536431A>T	gnomAD
rs1292389460	p.Val256Ile	missense variant	-	NC_000016.10:g.19536435G>A	gnomAD
rs938179451	p.Asn257Tyr	missense variant	-	NC_000016.10:g.19536438A>T	TOPMed,gnomAD
rs1202674805	p.Glu258Gln	missense variant	-	NC_000016.10:g.19536441G>C	gnomAD
COSM3817400	p.Glu258Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536441G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu258Ter	stop gained	-	NC_000016.10:g.19536441G>T	NCI-TCGA
rs749981118	p.Ser259Asn	missense variant	-	NC_000016.10:g.19536445G>A	ExAC,TOPMed,gnomAD
rs1190016263	p.His260Asn	missense variant	-	NC_000016.10:g.19536447C>A	TOPMed
rs1424668037	p.Leu261Ser	missense variant	-	NC_000016.10:g.19536451T>C	TOPMed
rs762322747	p.Asp262Glu	missense variant	-	NC_000016.10:g.19536455C>A	ExAC,TOPMed,gnomAD
rs1252979583	p.Glu264Gly	missense variant	-	NC_000016.10:g.19536460A>G	gnomAD
rs1177979877	p.Glu264Lys	missense variant	-	NC_000016.10:g.19536459G>A	gnomAD
rs766959732	p.His265Pro	missense variant	-	NC_000016.10:g.19536463A>C	ExAC,gnomAD
rs766959732	p.His265Arg	missense variant	-	NC_000016.10:g.19536463A>G	ExAC,gnomAD
rs1196904740	p.Ala267Gly	missense variant	-	NC_000016.10:g.19536469C>G	TOPMed
rs1183129444	p.Ala267Thr	missense variant	-	NC_000016.10:g.19536468G>A	gnomAD
NCI-TCGA novel	p.Ala267Asp	missense variant	-	NC_000016.10:g.19536469C>A	NCI-TCGA
rs1459151063	p.Val270Met	missense variant	-	NC_000016.10:g.19536477G>A	TOPMed
NCI-TCGA novel	p.Ala271LeuPheSerTerUnk	frameshift	-	NC_000016.10:g.19536479G>-	NCI-TCGA
rs1386341416	p.Asp272Gly	missense variant	-	NC_000016.10:g.19536484A>G	gnomAD
rs1167057736	p.Val274Ile	missense variant	-	NC_000016.10:g.19536489G>A	gnomAD
rs150869918	p.Lys275Asn	missense variant	-	NC_000016.10:g.19536494A>C	ESP,ExAC,TOPMed,gnomAD
rs1462849539	p.Glu276Gly	missense variant	-	NC_000016.10:g.19536496A>G	gnomAD
rs1032997440	p.Gly278Ala	missense variant	-	NC_000016.10:g.19536502G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Gln279His	missense variant	-	NC_000016.10:g.19536506G>C	NCI-TCGA
rs1247279388	p.Gly282Ser	missense variant	-	NC_000016.10:g.19536513G>A	TOPMed
rs781683712	p.Gly282Asp	missense variant	-	NC_000016.10:g.19536514G>A	ExAC,gnomAD
rs1384852152	p.Ser287Ala	missense variant	-	NC_000016.10:g.19536528T>G	gnomAD
COSM4917883	p.Ser287Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536528T>C	NCI-TCGA Cosmic
rs138258455	p.Asp291Gly	missense variant	-	NC_000016.10:g.19536541A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1296853332	p.Lys292Asn	missense variant	-	NC_000016.10:g.19536545A>T	gnomAD
rs112583917	p.Pro293Arg	missense variant	-	NC_000016.10:g.19536547C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1206449027	p.Ser294Asn	missense variant	-	NC_000016.10:g.19536550G>A	gnomAD
rs778089923	p.Asn299Ser	missense variant	-	NC_000016.10:g.19536565A>G	ExAC,TOPMed,gnomAD
rs1203045230	p.Leu301Phe	missense variant	-	NC_000016.10:g.19536570C>T	TOPMed,gnomAD
rs770881191	p.Leu302Phe	missense variant	-	NC_000016.10:g.19536573C>T	ExAC,TOPMed,gnomAD
rs770881191	p.Leu302Val	missense variant	-	NC_000016.10:g.19536573C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln303Ter	stop gained	-	NC_000016.10:g.19536576C>T	NCI-TCGA
rs532249557	p.Gly304Asp	missense variant	-	NC_000016.10:g.19536580G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs746907556	p.Ala305Pro	missense variant	-	NC_000016.10:g.19536582G>C	ExAC,gnomAD
rs776413838	p.Ala309Thr	missense variant	-	NC_000016.10:g.19536594G>A	ExAC,gnomAD
rs1357000678	p.Ser310Arg	missense variant	-	NC_000016.10:g.19536599C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser311Asn	missense variant	-	NC_000016.10:g.19536601G>A	NCI-TCGA
rs761555016	p.Met312Val	missense variant	-	NC_000016.10:g.19536603A>G	ExAC,TOPMed,gnomAD
rs761555016	p.Met312Leu	missense variant	-	NC_000016.10:g.19536603A>C	ExAC,TOPMed,gnomAD
rs1336756343	p.Ser313Asn	missense variant	-	NC_000016.10:g.19536607G>A	gnomAD
rs12446976	p.Ser313Arg	missense variant	-	NC_000016.10:g.19536608T>A	ExAC,TOPMed,gnomAD
rs1432314582	p.Ala318Asp	missense variant	-	NC_000016.10:g.19536622C>A	gnomAD
rs1296781035	p.Ser319Arg	missense variant	-	NC_000016.10:g.19536626C>A	gnomAD
rs758917792	p.Ser321Leu	missense variant	-	NC_000016.10:g.19536631C>T	ExAC,TOPMed,gnomAD
rs1211781984	p.Lys322Glu	missense variant	-	NC_000016.10:g.19536633A>G	TOPMed
rs144385995	p.Val323Ala	missense variant	-	NC_000016.10:g.19536637T>C	ESP,ExAC,TOPMed,gnomAD
rs1223158927	p.Asp324Gly	missense variant	-	NC_000016.10:g.19536640A>G	gnomAD
NCI-TCGA novel	p.Asp324IlePheSerTerUnk	stop gained	-	NC_000016.10:g.19536638_19536639insATTTCCTGAAGATT	NCI-TCGA
rs760137709	p.Ile325Leu	missense variant	-	NC_000016.10:g.19536642A>C	ExAC,gnomAD
rs535898577	p.Ile327Val	missense variant	-	NC_000016.10:g.19536648A>G	TOPMed
rs1383994857	p.Ile327Lys	missense variant	-	NC_000016.10:g.19536649T>A	gnomAD
rs768073766	p.Arg328Gln	missense variant	-	NC_000016.10:g.19536652G>A	ExAC,TOPMed
rs1462705993	p.Arg328Ter	stop gained	-	NC_000016.10:g.19536651C>T	TOPMed,gnomAD
rs768073766	p.Arg328Pro	missense variant	-	NC_000016.10:g.19536652G>C	ExAC,TOPMed
rs1241985570	p.His331Tyr	missense variant	-	NC_000016.10:g.19536660C>T	gnomAD
rs1188610278	p.Thr333Ala	missense variant	-	NC_000016.10:g.19536666A>G	gnomAD
rs753130901	p.Leu335Val	missense variant	-	NC_000016.10:g.19536672C>G	ExAC,TOPMed,gnomAD
rs565649558	p.Leu335Pro	missense variant	-	NC_000016.10:g.19536673T>C	1000Genomes,ExAC,gnomAD
rs753130901	p.Leu335Ile	missense variant	-	NC_000016.10:g.19536672C>A	ExAC,TOPMed,gnomAD
rs753999033	p.Asn338His	missense variant	-	NC_000016.10:g.19536681A>C	ExAC,TOPMed,gnomAD
rs1226404070	p.Ser339Cys	missense variant	-	NC_000016.10:g.19536685C>G	gnomAD
rs1294407941	p.Ile344Leu	missense variant	-	NC_000016.10:g.19536699A>C	gnomAD
rs757415295	p.Thr346Ala	missense variant	-	NC_000016.10:g.19536705A>G	ExAC,gnomAD
NCI-TCGA novel	p.Thr346Asn	missense variant	-	NC_000016.10:g.19536706C>A	NCI-TCGA
rs11645625	p.Phe347Ile	missense variant	-	NC_000016.10:g.19536708T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM6143855	p.Val348Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536712T>C	NCI-TCGA Cosmic
rs768611357	p.Glu350Lys	missense variant	-	NC_000016.10:g.19536717G>A	ExAC,TOPMed,gnomAD
rs369101517	p.Asn351Asp	missense variant	-	NC_000016.10:g.19536720A>G	ESP,ExAC,TOPMed,gnomAD
rs1027345319	p.Val353Ala	missense variant	-	NC_000016.10:g.19536727T>C	TOPMed
COSM702573	p.Ile354Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536731C>G	NCI-TCGA Cosmic
rs747986482	p.Lys355Arg	missense variant	-	NC_000016.10:g.19536733A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys355Asn	missense variant	-	NC_000016.10:g.19536734A>C	NCI-TCGA
rs1284147343	p.Thr358Arg	missense variant	-	NC_000016.10:g.19536742C>G	gnomAD
rs1284147343	p.Thr358Ile	missense variant	-	NC_000016.10:g.19536742C>T	gnomAD
rs769548557	p.Gly359Val	missense variant	-	NC_000016.10:g.19536745G>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly359Cys	missense variant	-	NC_000016.10:g.19536744G>T	NCI-TCGA
COSM4402753	p.Ser360Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536748C>T	NCI-TCGA Cosmic
rs1221549650	p.Tyr361His	missense variant	-	NC_000016.10:g.19536750T>C	TOPMed,gnomAD
rs1226575477	p.Ala362Pro	missense variant	-	NC_000016.10:g.19536753G>C	gnomAD
rs772985733	p.Lys363Arg	missense variant	-	NC_000016.10:g.19536757A>G	ExAC,gnomAD
rs762502593	p.Pro365Ser	missense variant	-	NC_000016.10:g.19536762C>T	ExAC,gnomAD
rs1201063249	p.Ser366Asn	missense variant	-	NC_000016.10:g.19536766G>A	TOPMed
rs770561168	p.Pro369Thr	missense variant	-	NC_000016.10:g.19536774C>A	ExAC,gnomAD
rs773742124	p.Ser370Thr	missense variant	-	NC_000016.10:g.19536778G>C	ExAC,TOPMed,gnomAD
rs773742124	p.Ser370Asn	missense variant	-	NC_000016.10:g.19536778G>A	ExAC,TOPMed,gnomAD
rs759081175	p.Met371Thr	missense variant	-	NC_000016.10:g.19536781T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met371Val	missense variant	-	NC_000016.10:g.19536780A>G	NCI-TCGA
rs768184226	p.Pro373Leu	missense variant	-	NC_000016.10:g.19536787C>T	ExAC,gnomAD
rs761186490	p.Lys374Glu	missense variant	-	NC_000016.10:g.19536789A>G	ExAC,gnomAD
rs7190666	p.Met375Ile	missense variant	-	NC_000016.10:g.19536794G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1157442340	p.Met375Val	missense variant	-	NC_000016.10:g.19536792A>G	TOPMed,gnomAD
RCV000455799	p.Met375Ile	missense variant	-	NC_000016.10:g.19536794G>A	ClinVar
rs1219074140	p.His376Leu	missense variant	-	NC_000016.10:g.19536796A>T	TOPMed
rs567612351	p.Arg377Gln	missense variant	-	NC_000016.10:g.19536799G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1401990024	p.Arg377Ter	stop gained	-	NC_000016.10:g.19536798C>T	TOPMed,gnomAD
rs949349247	p.Arg379Cys	missense variant	-	NC_000016.10:g.19536804C>T	TOPMed
rs146335974	p.Arg379His	missense variant	-	NC_000016.10:g.19536805G>A	ESP,ExAC,TOPMed,gnomAD
COSM6143853	p.Arg379Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536805G>T	NCI-TCGA Cosmic
rs750523241	p.Arg381Gly	missense variant	-	NC_000016.10:g.19536810A>G	ExAC,TOPMed,gnomAD
rs142177955	p.Ala385Val	missense variant	-	NC_000016.10:g.19536823C>T	ESP,ExAC,gnomAD
rs777446045	p.Cys386Tyr	missense variant	-	NC_000016.10:g.19536826G>A	ExAC,gnomAD
rs755961882	p.Cys386Arg	missense variant	-	NC_000016.10:g.19536825T>C	ExAC,gnomAD
rs749048633	p.His387Tyr	missense variant	-	NC_000016.10:g.19536828C>T	ExAC,gnomAD
rs761214278	p.Ile390Thr	missense variant	-	NC_000016.10:g.19536838T>C	ExAC,TOPMed,gnomAD
COSM260264	p.Asn391His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536840A>C	NCI-TCGA Cosmic
rs1294442729	p.Asn392Lys	missense variant	-	NC_000016.10:g.19536845C>G	gnomAD
rs1173121462	p.Asn392Ser	missense variant	-	NC_000016.10:g.19536844A>G	TOPMed
COSM3506750	p.Pro393Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536847C>T	NCI-TCGA Cosmic
rs369149634	p.Ile394Val	missense variant	-	NC_000016.10:g.19536849A>G	ESP,TOPMed
rs745407435	p.Cys397Gly	missense variant	-	NC_000016.10:g.19536858T>G	ExAC,gnomAD
rs771701964	p.Gly403Ala	missense variant	-	NC_000016.10:g.19536877G>C	ExAC,gnomAD
rs1054480188	p.Gly403Arg	missense variant	-	NC_000016.10:g.19536876G>C	gnomAD
rs1054480188	p.Gly403Arg	missense variant	-	NC_000016.10:g.19536876G>A	gnomAD
rs771701964	p.Gly403Glu	missense variant	-	NC_000016.10:g.19536877G>A	ExAC,gnomAD
rs893945078	p.Lys404Gln	missense variant	-	NC_000016.10:g.19536879A>C	TOPMed,gnomAD
rs945663612	p.Glu405Gly	missense variant	-	NC_000016.10:g.19536883A>G	TOPMed
COSM967899	p.Glu405Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.19536882G>T	NCI-TCGA Cosmic
rs761276530	p.Gln406His	missense variant	-	NC_000016.10:g.19536887G>C	ExAC,TOPMed,gnomAD
rs200694115	p.Met408Arg	missense variant	-	NC_000016.10:g.19536892T>G	1000Genomes,ExAC,gnomAD
rs766864319	p.Met408Ile	missense variant	-	NC_000016.10:g.19536893G>A	-
rs764593838	p.Met408Val	missense variant	-	NC_000016.10:g.19536891A>G	ExAC,gnomAD
rs1328433934	p.Asp409Tyr	missense variant	-	NC_000016.10:g.19536894G>T	gnomAD
rs1444399311	p.Asp414Tyr	missense variant	-	NC_000016.10:g.19536909G>T	gnomAD
rs765427528	p.Asp416Asn	missense variant	-	NC_000016.10:g.19536915G>A	ExAC,gnomAD
rs1195644268	p.Glu423Val	missense variant	-	NC_000016.10:g.19536937A>T	gnomAD
NCI-TCGA novel	p.Glu423Ala	missense variant	-	NC_000016.10:g.19536937A>C	NCI-TCGA
rs148705711	p.Glu423Lys	missense variant	-	NC_000016.10:g.19536936G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1275755465	p.Ile424Val	missense variant	-	NC_000016.10:g.19536939A>G	TOPMed
rs899570568	p.Met425Val	missense variant	-	NC_000016.10:g.19536942A>G	TOPMed
rs142220898	p.Lys427Glu	missense variant	-	NC_000016.10:g.19536948A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs973873957	p.Thr430Ala	missense variant	-	NC_000016.10:g.19536957A>G	-
rs370713605	p.Ala433Val	missense variant	-	NC_000016.10:g.19536967C>T	ESP,ExAC,TOPMed,gnomAD
rs982722527	p.Gly434Glu	missense variant	-	NC_000016.10:g.19536970G>A	TOPMed,gnomAD
rs990509431	p.Cys436Tyr	missense variant	-	NC_000016.10:g.19536976G>A	gnomAD
rs990509431	p.Cys436Phe	missense variant	-	NC_000016.10:g.19536976G>T	gnomAD
rs778493534	p.Ser437Pro	missense variant	-	NC_000016.10:g.19536978T>C	ExAC,gnomAD
rs745500763	p.Val440Phe	missense variant	-	NC_000016.10:g.19536987G>T	ExAC,gnomAD
COSM4058863	p.Val440Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19536988T>C	NCI-TCGA Cosmic
rs779714453	p.Gly443Arg	missense variant	-	NC_000016.10:g.19536996G>C	ExAC,gnomAD
rs769066188	p.Asn445Ile	missense variant	-	NC_000016.10:g.19537003A>T	ExAC,gnomAD
rs777173621	p.Val449Ile	missense variant	-	NC_000016.10:g.19537014G>A	ExAC,gnomAD
rs374077305	p.Val449Ala	missense variant	-	NC_000016.10:g.19537015T>C	ESP
rs1405414796	p.Lys450Arg	missense variant	-	NC_000016.10:g.19537018A>G	gnomAD
NCI-TCGA novel	p.Glu451Lys	missense variant	-	NC_000016.10:g.19537020G>A	NCI-TCGA
COSM5747710	p.Val454Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537030T>C	NCI-TCGA Cosmic
rs1339247625	p.Val454Ile	missense variant	-	NC_000016.10:g.19537029G>A	gnomAD
rs770190968	p.Gly456Val	missense variant	-	NC_000016.10:g.19537036G>T	ExAC,TOPMed,gnomAD
rs1325212813	p.Gly456Ser	missense variant	-	NC_000016.10:g.19537035G>A	gnomAD
rs770190968	p.Gly456Asp	missense variant	-	NC_000016.10:g.19537036G>A	ExAC,TOPMed,gnomAD
rs1340973983	p.Ser458Pro	missense variant	-	NC_000016.10:g.19537041T>C	gnomAD
rs1420450040	p.Asn459Ser	missense variant	-	NC_000016.10:g.19537045A>G	TOPMed
rs540075055	p.Val461Leu	missense variant	-	NC_000016.10:g.19537050G>C	ExAC,gnomAD
rs540075055	p.Val461Leu	missense variant	-	NC_000016.10:g.19537050G>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser465Leu	missense variant	-	NC_000016.10:g.19537063C>T	NCI-TCGA
rs751672362	p.Glu470Val	missense variant	-	NC_000016.10:g.19537078A>T	ExAC,TOPMed,gnomAD
rs759616349	p.Val473Ile	missense variant	-	NC_000016.10:g.19537086G>A	ExAC,gnomAD
rs759616349	p.Val473Leu	missense variant	-	NC_000016.10:g.19537086G>C	ExAC,gnomAD
rs1446366012	p.Val473Ala	missense variant	-	NC_000016.10:g.19537087T>C	gnomAD
rs763990973	p.Thr474Ile	missense variant	-	NC_000016.10:g.19537090C>T	ExAC,gnomAD
rs753805350	p.Gly476Arg	missense variant	-	NC_000016.10:g.19537095G>A	ExAC,gnomAD
rs1174511265	p.Val478Ile	missense variant	-	NC_000016.10:g.19537101G>A	gnomAD
rs778860781	p.Thr479Ile	missense variant	-	NC_000016.10:g.19537105C>T	ExAC,gnomAD
rs1428939210	p.Thr479Ser	missense variant	-	NC_000016.10:g.19537104A>T	gnomAD
rs1179880775	p.Val480Ala	missense variant	-	NC_000016.10:g.19537108T>C	TOPMed,gnomAD
rs750174647	p.Glu481Lys	missense variant	-	NC_000016.10:g.19537110G>A	ExAC,TOPMed,gnomAD
rs1383387062	p.Gln483Arg	missense variant	-	NC_000016.10:g.19537117A>G	gnomAD
rs1382178705	p.Thr485Ile	missense variant	-	NC_000016.10:g.19537123C>T	gnomAD
rs202085873	p.Asp487Asn	missense variant	-	NC_000016.10:g.19537128G>A	ExAC,TOPMed,gnomAD
rs1307602098	p.Glu488Asp	missense variant	-	NC_000016.10:g.19537133G>C	TOPMed
rs1455704058	p.Gly490Ser	missense variant	-	NC_000016.10:g.19537137G>A	TOPMed,gnomAD
rs770143429	p.Ala491Gly	missense variant	-	NC_000016.10:g.19537141C>G	ExAC,gnomAD
rs770143429	p.Ala491Val	missense variant	-	NC_000016.10:g.19537141C>T	ExAC,gnomAD
rs781615627	p.Ala491Thr	missense variant	-	NC_000016.10:g.19537140G>A	ExAC,TOPMed,gnomAD
rs781615627	p.Ala491Ser	missense variant	-	NC_000016.10:g.19537140G>T	ExAC,TOPMed,gnomAD
rs1284563407	p.Ile493Val	missense variant	-	NC_000016.10:g.19537146A>G	TOPMed
rs184551421	p.Thr497Ile	missense variant	-	NC_000016.10:g.19537159C>T	1000Genomes,ExAC,gnomAD
rs759598287	p.Cys498Tyr	missense variant	-	NC_000016.10:g.19537162G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys498Arg	missense variant	-	NC_000016.10:g.19537161T>C	NCI-TCGA
rs1198435194	p.Ala499Val	missense variant	-	NC_000016.10:g.19537165C>T	gnomAD
rs1049791892	p.Ala500Thr	missense variant	-	NC_000016.10:g.19537167G>A	TOPMed
rs1355202652	p.Met501Arg	missense variant	-	NC_000016.10:g.19537171T>G	TOPMed
rs1480903753	p.Met501Val	missense variant	-	NC_000016.10:g.19537170A>G	gnomAD
rs752659133	p.Pro502Ser	missense variant	-	NC_000016.10:g.19537173C>T	ExAC,gnomAD
rs1164267503	p.Pro502Leu	missense variant	-	NC_000016.10:g.19537174C>T	TOPMed
rs1362108473	p.His505Arg	missense variant	-	NC_000016.10:g.19537183A>G	gnomAD
rs531944701	p.Pro507Leu	missense variant	-	NC_000016.10:g.19537189C>T	1000Genomes,ExAC,gnomAD
COSM4058864	p.Ser510Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537198G>A	NCI-TCGA Cosmic
rs138742987	p.Ser511Arg	missense variant	-	NC_000016.10:g.19537200A>C	ESP,ExAC,TOPMed,gnomAD
rs138742987	p.Ser511Gly	missense variant	-	NC_000016.10:g.19537200A>G	ESP,ExAC,TOPMed,gnomAD
rs751220765	p.Gln512His	missense variant	-	NC_000016.10:g.19537205G>T	ExAC,gnomAD
rs151214000	p.Gln512Arg	missense variant	-	NC_000016.10:g.19537204A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1181074938	p.Cys513Tyr	missense variant	-	NC_000016.10:g.19537207G>A	TOPMed
rs1406419485	p.Cys513Arg	missense variant	-	NC_000016.10:g.19537206T>C	gnomAD
rs754505654	p.Ile514Val	missense variant	-	NC_000016.10:g.19537209A>G	ExAC,gnomAD
rs559174969	p.Ile514Thr	missense variant	-	NC_000016.10:g.19537210T>C	1000Genomes,ExAC,gnomAD
rs747547368	p.Pro517Arg	missense variant	-	NC_000016.10:g.19537219C>G	ExAC,TOPMed,gnomAD
rs1239225264	p.Pro517Ser	missense variant	-	NC_000016.10:g.19537218C>T	TOPMed,gnomAD
rs779977765	p.Asn518Asp	missense variant	-	NC_000016.10:g.19537221A>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe519Val	missense variant	-	NC_000016.10:g.19537224T>G	NCI-TCGA
rs368056132	p.Thr521Asn	missense variant	-	NC_000016.10:g.19537231C>A	ESP,ExAC,TOPMed,gnomAD
rs1193099157	p.Val522Met	missense variant	-	NC_000016.10:g.19537233G>A	gnomAD
rs912139030	p.Ser523Asn	missense variant	-	NC_000016.10:g.19537237G>A	TOPMed
rs1248762610	p.Gly524Arg	missense variant	-	NC_000016.10:g.19537239G>A	gnomAD
rs1418562014	p.Leu525Phe	missense variant	-	NC_000016.10:g.19537242C>T	gnomAD
rs1182634204	p.Lys526Asn	missense variant	-	NC_000016.10:g.19537247G>C	gnomAD
rs1443364342	p.Ser529Gly	missense variant	-	NC_000016.10:g.19537254A>G	gnomAD
rs1292109060	p.Asn534Lys	missense variant	-	NC_000016.10:g.19537271C>G	TOPMed
rs746111903	p.Cys535Tyr	missense variant	-	NC_000016.10:g.19537273G>A	ExAC,gnomAD
rs1366560307	p.Leu537Val	missense variant	-	NC_000016.10:g.19537278T>G	gnomAD
NCI-TCGA novel	p.Gln538Ter	stop gained	-	NC_000016.10:g.19537281C>T	NCI-TCGA
COSM967902	p.Thr539Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537284A>C	NCI-TCGA Cosmic
rs943712177	p.Thr539Lys	missense variant	-	NC_000016.10:g.19537285C>A	TOPMed,gnomAD
rs943712177	p.Thr539Ile	missense variant	-	NC_000016.10:g.19537285C>T	TOPMed,gnomAD
COSM967903	p.Glu540Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537287G>A	NCI-TCGA Cosmic
rs143488344	p.Asn542Ser	missense variant	-	NC_000016.10:g.19537294A>G	ESP,ExAC,TOPMed,gnomAD
rs1395401456	p.Lys543Arg	missense variant	-	NC_000016.10:g.19537297A>G	gnomAD
rs760622290	p.Ser544Phe	missense variant	-	NC_000016.10:g.19537300C>T	ExAC,TOPMed,gnomAD
rs375241886	p.Tyr545Cys	missense variant	-	NC_000016.10:g.19537303A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr545Asp	missense variant	-	NC_000016.10:g.19537302T>G	NCI-TCGA
rs1315687778	p.Asp546Asn	missense variant	-	NC_000016.10:g.19537305G>A	gnomAD
rs368395482	p.Val547Ile	missense variant	-	NC_000016.10:g.19537308G>A	ESP,ExAC,TOPMed,gnomAD
COSM1376295	p.Asn549ThrPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.19537310A>-	NCI-TCGA Cosmic
rs959147949	p.Asn549Lys	missense variant	-	NC_000016.10:g.19537316C>A	TOPMed
rs202054670	p.Pro550Ala	missense variant	-	NC_000016.10:g.19537317C>G	1000Genomes,TOPMed
rs202054670	p.Pro550Thr	missense variant	-	NC_000016.10:g.19537317C>A	1000Genomes,TOPMed
rs754666121	p.Pro552Leu	missense variant	-	NC_000016.10:g.19537324C>T	ExAC,gnomAD
rs376813668	p.Pro552Ser	missense variant	-	NC_000016.10:g.19537323C>T	ESP,ExAC,gnomAD
COSM6078644	p.Leu553Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537328A>T	NCI-TCGA Cosmic
rs752277360	p.Gln556Arg	missense variant	-	NC_000016.10:g.19537336A>G	ExAC,gnomAD
rs1188923194	p.Gln556Ter	stop gained	-	NC_000016.10:g.19537335C>T	TOPMed
rs78180055	p.Thr560Met	missense variant	-	NC_000016.10:g.19537348C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1487149946	p.Arg561Gly	missense variant	-	NC_000016.10:g.19537350A>G	TOPMed
rs749777679	p.Gln563Ter	stop gained	-	NC_000016.10:g.19537356C>T	ExAC,gnomAD
rs749777679	p.Gln563Lys	missense variant	-	NC_000016.10:g.19537356C>A	ExAC,gnomAD
rs1181445518	p.Met564Thr	missense variant	-	NC_000016.10:g.19537360T>C	gnomAD
rs1287891572	p.Pro567Ser	missense variant	-	NC_000016.10:g.19537368C>T	TOPMed
rs757700534	p.Met568Val	missense variant	-	NC_000016.10:g.19537371A>G	ExAC,TOPMed,gnomAD
rs141945021	p.Val569Leu	missense variant	-	NC_000016.10:g.19537374G>T	ESP,ExAC,gnomAD
rs369267187	p.Ser570Cys	missense variant	-	NC_000016.10:g.19537378C>G	ESP,TOPMed
rs1311512454	p.Ser570Pro	missense variant	-	NC_000016.10:g.19537377T>C	TOPMed
rs112924275	p.Cys571Ser	missense variant	-	NC_000016.10:g.19537380T>A	TOPMed
COSM4843975	p.Asn573Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537386A>T	NCI-TCGA Cosmic
rs772359627	p.Gln575Lys	missense variant	-	NC_000016.10:g.19537392C>A	ExAC,gnomAD
rs775552163	p.Gln575Pro	missense variant	-	NC_000016.10:g.19537393A>C	ExAC,gnomAD
COSM3506752	p.Asp578Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537401G>T	NCI-TCGA Cosmic
rs1347493049	p.Ser580Asn	missense variant	-	NC_000016.10:g.19537408G>A	TOPMed
rs17227190	p.Lys583Asn	missense variant	-	NC_000016.10:g.19537418A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys585Ile	missense variant	-	NC_000016.10:g.19537423A>T	NCI-TCGA
rs762998961	p.Arg586Gln	missense variant	-	NC_000016.10:g.19537426G>A	ExAC,TOPMed,gnomAD
rs372951911	p.Arg586Trp	missense variant	-	NC_000016.10:g.19537425C>T	ESP,ExAC,TOPMed,gnomAD
rs774235433	p.Ile592Thr	missense variant	-	NC_000016.10:g.19537444T>C	ExAC,gnomAD
rs766354286	p.Ile592Leu	missense variant	-	NC_000016.10:g.19537443A>C	ExAC,gnomAD
rs759205882	p.Gly594Arg	missense variant	-	NC_000016.10:g.19537449G>C	ExAC,gnomAD
rs1484542524	p.Gln596Arg	missense variant	-	NC_000016.10:g.19537456A>G	gnomAD
rs1015539839	p.Lys597Asn	missense variant	-	NC_000016.10:g.19537460A>C	TOPMed
rs1429518962	p.Glu598Gly	missense variant	-	NC_000016.10:g.19537462A>G	gnomAD
rs1261439011	p.Glu598Gln	missense variant	-	NC_000016.10:g.19537461G>C	gnomAD
rs1172368915	p.Asn599Tyr	missense variant	-	NC_000016.10:g.19537464A>T	gnomAD
rs200731280	p.Pro601Leu	missense variant	-	NC_000016.10:g.19537471C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs138995242	p.Tyr602Cys	missense variant	-	NC_000016.10:g.19537474A>G	ESP,ExAC,TOPMed,gnomAD
rs757790472	p.Ile604Thr	missense variant	-	NC_000016.10:g.19537480T>C	ExAC,gnomAD
rs779238031	p.Thr605Ile	missense variant	-	NC_000016.10:g.19537483C>T	ExAC
rs141974640	p.Gly607Glu	missense variant	-	NC_000016.10:g.19537489G>A	ESP,ExAC,TOPMed,gnomAD
rs146294106	p.Ile608Met	missense variant	-	NC_000016.10:g.19537493A>G	ESP,ExAC,TOPMed,gnomAD
COSM4908534	p.Glu610Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537498A>T	NCI-TCGA Cosmic
rs547824119	p.Gln611Arg	missense variant	-	NC_000016.10:g.19537501A>G	1000Genomes
COSM4908414	p.Gln611Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537500C>A	NCI-TCGA Cosmic
rs780390517	p.His615Tyr	missense variant	-	NC_000016.10:g.19537512C>T	ExAC,TOPMed,gnomAD
rs780390517	p.His615Asn	missense variant	-	NC_000016.10:g.19537512C>A	ExAC,TOPMed,gnomAD
rs747221137	p.Leu616Ser	missense variant	-	NC_000016.10:g.19537516T>C	ExAC,TOPMed,gnomAD
rs866623157	p.Pro617Ser	missense variant	-	NC_000016.10:g.19537518C>T	TOPMed,gnomAD
rs866623157	p.Pro617Thr	missense variant	-	NC_000016.10:g.19537518C>A	TOPMed,gnomAD
rs773337958	p.Glu618Lys	missense variant	-	NC_000016.10:g.19537521G>A	gnomAD
NCI-TCGA novel	p.Arg620LysPheSerTerUnk	frameshift	-	NC_000016.10:g.19537521_19537522insA	NCI-TCGA
NCI-TCGA novel	p.Arg620Ile	missense variant	-	NC_000016.10:g.19537528G>T	NCI-TCGA
rs781427845	p.Tyr621Cys	missense variant	-	NC_000016.10:g.19537531A>G	ExAC,gnomAD
rs748200292	p.Pro622His	missense variant	-	NC_000016.10:g.19537534C>A	ExAC,gnomAD
rs770926677	p.Lys623Glu	missense variant	-	NC_000016.10:g.19537536A>G	ExAC,gnomAD
rs1266242065	p.Gly624Glu	missense variant	-	NC_000016.10:g.19537540G>A	gnomAD
rs1218152542	p.Gly626Asp	missense variant	-	NC_000016.10:g.19537546G>A	TOPMed
rs774136566	p.Gly626Arg	missense variant	-	NC_000016.10:g.19537545G>C	ExAC,gnomAD
COSM3988301	p.Phe627Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19537548T>A	NCI-TCGA Cosmic
rs775203473	p.Phe627Leu	missense variant	-	NC_000016.10:g.19537550C>G	ExAC,TOPMed
rs760725833	p.Phe627Ser	missense variant	-	NC_000016.10:g.19537549T>C	ExAC,TOPMed,gnomAD
rs17853681	p.Val628Ile	missense variant	-	NC_000016.10:g.19537551G>A	ExAC,gnomAD
rs17853681	p.Val628Phe	missense variant	-	NC_000016.10:g.19537551G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asn629Ser	missense variant	-	NC_000016.10:g.19537555A>G	NCI-TCGA
rs1383084845	p.Lys630Asn	missense variant	-	NC_000016.10:g.19537559G>C	TOPMed
rs199903716	p.Asn631Lys	missense variant	-	NC_000016.10:g.19537562T>A	1000Genomes,ExAC,gnomAD
rs753366012	p.Met633Val	missense variant	-	NC_000016.10:g.19537566A>G	ExAC,TOPMed,gnomAD
rs139492936	p.Met633Ile	missense variant	-	NC_000016.10:g.19537568G>C	ESP,ExAC,gnomAD
rs139492936	p.Met633Ile	missense variant	-	NC_000016.10:g.19537568G>A	ESP,ExAC,gnomAD
rs1343816605	p.Gly635Ala	missense variant	-	NC_000016.10:g.19537573G>C	gnomAD
rs1404540801	p.Thr636Ile	missense variant	-	NC_000016.10:g.19537576C>T	gnomAD
rs150018784	p.Ser637Ile	missense variant	-	NC_000016.10:g.19537579G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1222194264	p.Lys639Thr	missense variant	-	NC_000016.10:g.19537585A>C	gnomAD
rs1284112231	p.Lys639Asn	missense variant	-	NC_000016.10:g.19537586A>T	gnomAD
NCI-TCGA novel	p.Lys639PhePheSerTerUnkUnk	frameshift	-	NC_000016.10:g.19537582_19537583insATTTCCA	NCI-TCGA
rs776233198	p.Glu642Lys	missense variant	-	NC_000016.10:g.19540662G>A	ExAC,TOPMed,gnomAD
rs761451591	p.Glu643Gln	missense variant	-	NC_000016.10:g.19540665G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu643Asp	missense variant	-	NC_000016.10:g.19540667G>T	NCI-TCGA
rs761451591	p.Glu643Ter	stop gained	-	NC_000016.10:g.19540665G>T	ExAC,gnomAD
rs144284874	p.Leu645Pro	missense variant	-	NC_000016.10:g.19540672T>C	ESP,ExAC,TOPMed,gnomAD
rs369807084	p.Ser647Cys	missense variant	-	NC_000016.10:g.19540677A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser647AlaPheSerTerUnk	frameshift	-	NC_000016.10:g.19540673A>-	NCI-TCGA
rs766953464	p.Lys648Arg	missense variant	-	NC_000016.10:g.19540681A>G	ExAC,TOPMed,gnomAD
rs1203162904	p.Met649Ile	missense variant	-	NC_000016.10:g.19540685G>A	TOPMed,gnomAD
COSM967904	p.Met649Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19540683A>G	NCI-TCGA Cosmic
rs755374220	p.Leu650Phe	missense variant	-	NC_000016.10:g.19540688A>C	ExAC,gnomAD
rs767894263	p.Phe652Leu	missense variant	-	NC_000016.10:g.19540692T>C	ExAC,TOPMed,gnomAD
rs142593876	p.Arg656Trp	missense variant	-	NC_000016.10:g.19540704C>T	ESP,ExAC,TOPMed,gnomAD
rs147645157	p.Arg656Gln	missense variant	-	NC_000016.10:g.19540705G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg658Lys	missense variant	-	NC_000016.10:g.19540711G>A	NCI-TCGA
rs1416176734	p.His663Arg	missense variant	-	NC_000016.10:g.19540726A>G	gnomAD
rs746844150	p.Ala664Thr	missense variant	-	NC_000016.10:g.19540728G>A	ExAC,TOPMed,gnomAD
rs1051556434	p.Gln665Ter	stop gained	-	NC_000016.10:g.19540731C>T	TOPMed
rs1477912137	p.Ser668Ter	stop gained	-	NC_000016.10:g.19540741C>G	TOPMed
rs566760938	p.Ile671Thr	missense variant	-	NC_000016.10:g.19540750T>C	1000Genomes,ExAC,gnomAD
rs747768054	p.Ala672Thr	missense variant	-	NC_000016.10:g.19540752G>A	ExAC,gnomAD
rs1376359288	p.Glu675Gly	missense variant	-	NC_000016.10:g.19540762A>G	TOPMed
rs772629886	p.Glu675Asp	missense variant	-	NC_000016.10:g.19540763A>C	ExAC,gnomAD
rs144491978	p.Gln678Ter	stop gained	-	NC_000016.10:g.19540770C>T	ESP
rs762477128	p.Glu679Lys	missense variant	-	NC_000016.10:g.19540773G>A	ExAC,gnomAD
rs1213591623	p.Arg680Ser	missense variant	-	NC_000016.10:g.19540778A>T	gnomAD
rs767043483	p.Arg680Lys	missense variant	-	NC_000016.10:g.19540777G>A	ExAC,TOPMed,gnomAD
rs1272219307	p.Glu686Lys	missense variant	-	NC_000016.10:g.19541893G>A	gnomAD
rs201795702	p.Gln688His	missense variant	-	NC_000016.10:g.19541901G>T	1000Genomes
rs772888459	p.Gln688Arg	missense variant	-	NC_000016.10:g.19541900A>G	ExAC,TOPMed,gnomAD
COSM6078642	p.Glu689Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19541902G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu689Ter	frameshift	-	NC_000016.10:g.19541898_19541925GCAGGAGAAAATGTTAAAAGAGAAGAAG>-	NCI-TCGA
rs748796315	p.Lys690Glu	missense variant	-	NC_000016.10:g.19541905A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys690Asn	missense variant	-	NC_000016.10:g.19541907A>C	NCI-TCGA
COSM1376297	p.Lys693Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19541914A>C	NCI-TCGA Cosmic
rs770549152	p.Glu694Lys	missense variant	-	NC_000016.10:g.19541917G>A	ExAC
rs775061739	p.Glu694Asp	missense variant	-	NC_000016.10:g.19541919G>C	ExAC,TOPMed
rs540646331	p.Lys695Glu	missense variant	-	NC_000016.10:g.19541920A>G	1000Genomes,ExAC,gnomAD
rs775752673	p.Ala697Ser	missense variant	-	NC_000016.10:g.19541926G>T	ExAC,gnomAD
rs1466673046	p.Met698Val	missense variant	-	NC_000016.10:g.19541929A>G	gnomAD
rs562195808	p.Ala700Val	missense variant	-	NC_000016.10:g.19541936C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs761949461	p.Ser703Pro	missense variant	-	NC_000016.10:g.19541944T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser703Phe	missense variant	-	NC_000016.10:g.19541945C>T	NCI-TCGA
rs1411168645	p.Glu704Gln	missense variant	-	NC_000016.10:g.19541947G>C	TOPMed
rs765305529	p.Ile707Val	missense variant	-	NC_000016.10:g.19541956A>G	ExAC,TOPMed,gnomAD
rs765305529	p.Ile707Leu	missense variant	-	NC_000016.10:g.19541956A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asn708Lys	missense variant	-	NC_000016.10:g.19541961C>A	NCI-TCGA
rs371262129	p.Val711Met	missense variant	-	NC_000016.10:g.19541968G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu712Ter	stop gained	-	NC_000016.10:g.19541971G>T	NCI-TCGA
rs1219437666	p.Trp715Cys	missense variant	-	NC_000016.10:g.19541982G>C	gnomAD
rs1474055645	p.Trp715Ter	stop gained	-	NC_000016.10:g.19541981G>A	TOPMed
rs781142893	p.Lys717Asn	missense variant	-	NC_000016.10:g.19541988A>C	ExAC,TOPMed,gnomAD
rs752473226	p.Ile718Thr	missense variant	-	NC_000016.10:g.19541990T>C	ExAC,gnomAD
rs368856612	p.Ser719Ile	missense variant	-	NC_000016.10:g.19541993G>T	ESP,ExAC,gnomAD
rs368856612	p.Ser719Asn	missense variant	-	NC_000016.10:g.19541993G>A	ESP,ExAC,gnomAD
rs777346390	p.Asp720His	missense variant	-	NC_000016.10:g.19541995G>C	ExAC,gnomAD
COSM4851609	p.Ser721Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19541999C>G	NCI-TCGA Cosmic
rs1188428653	p.Ser722Asn	missense variant	-	NC_000016.10:g.19542002G>A	TOPMed
rs1472195964	p.Leu723Phe	missense variant	-	NC_000016.10:g.19542006G>T	TOPMed
rs770637166	p.Glu725Lys	missense variant	-	NC_000016.10:g.19542010G>A	ExAC,gnomAD
rs1489813584	p.Met727Val	missense variant	-	NC_000016.10:g.19542016A>G	gnomAD
rs1267008556	p.Ser729Pro	missense variant	-	NC_000016.10:g.19542022T>C	gnomAD
rs1433783462	p.Ser729Phe	missense variant	-	NC_000016.10:g.19542023C>T	gnomAD
rs1201092647	p.Gln730Arg	missense variant	-	NC_000016.10:g.19542026A>G	gnomAD
NCI-TCGA novel	p.Gln730Glu	missense variant	-	NC_000016.10:g.19542025C>G	NCI-TCGA
rs563120135	p.Ala731Val	missense variant	-	NC_000016.10:g.19542029C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs971664346	p.Ala731Thr	missense variant	-	NC_000016.10:g.19542028G>A	TOPMed
rs1159835337	p.Asp732Tyr	missense variant	-	NC_000016.10:g.19542031G>T	TOPMed,gnomAD
rs1159835337	p.Asp732His	missense variant	-	NC_000016.10:g.19542031G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Thr736Ser	missense variant	-	NC_000016.10:g.19542044C>G	NCI-TCGA
NCI-TCGA novel	p.Ser737Ter	stop gained	-	NC_000016.10:g.19542047C>G	NCI-TCGA
rs776046434	p.Asn738Lys	missense variant	-	NC_000016.10:g.19542051T>A	ExAC,gnomAD
rs371244665	p.Asn738Ser	missense variant	-	NC_000016.10:g.19542050A>G	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Asn738Asp	missense variant	-	NC_000016.10:g.19542049A>G	NCI-TCGA
rs761006071	p.Asn740Ser	missense variant	-	NC_000016.10:g.19542056A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser741Ile	missense variant	-	NC_000016.10:g.19542059G>T	NCI-TCGA
rs776794331	p.Ser742Tyr	missense variant	-	NC_000016.10:g.19542062C>A	ExAC,gnomAD
rs1164378711	p.Gly743Ser	missense variant	-	NC_000016.10:g.19542064G>A	gnomAD
NCI-TCGA novel	p.Ala748Val	missense variant	-	NC_000016.10:g.19542636C>T	NCI-TCGA
rs1389660139	p.Ala748Thr	missense variant	-	NC_000016.10:g.19542635G>A	TOPMed
rs1371242319	p.Met749Ile	missense variant	-	NC_000016.10:g.19542640G>A	TOPMed
rs773399658	p.Met749Val	missense variant	-	NC_000016.10:g.19542638A>G	ExAC,gnomAD
rs533898354	p.Gln750Arg	missense variant	-	NC_000016.10:g.19542642A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1249900436	p.Tyr751His	missense variant	-	NC_000016.10:g.19542644T>C	gnomAD
rs774226202	p.Ser752Arg	missense variant	-	NC_000016.10:g.19542649C>A	ExAC,gnomAD
NCI-TCGA novel	p.Phe753Val	missense variant	-	NC_000016.10:g.19542650T>G	NCI-TCGA
rs1206784107	p.Ser755Phe	missense variant	-	NC_000016.10:g.19542657C>T	gnomAD
rs375415222	p.Asn757Lys	missense variant	-	NC_000016.10:g.19542664C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs375415222	p.Asn757Lys	missense variant	-	NC_000016.10:g.19542664C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757100100	p.Glu758Lys	missense variant	-	NC_000016.10:g.19542665G>A	ExAC,gnomAD
rs201430972	p.Pro760Ser	missense variant	-	NC_000016.10:g.19542671C>T	ESP,ExAC,TOPMed,gnomAD
rs1463352845	p.Pro760Leu	missense variant	-	NC_000016.10:g.19542672C>T	TOPMed
rs374662783	p.Tyr762His	missense variant	-	NC_000016.10:g.19542677T>C	ESP,ExAC,TOPMed,gnomAD
rs200392345	p.Tyr762Ser	missense variant	-	NC_000016.10:g.19542678A>C	1000Genomes,ExAC,gnomAD
rs200392345	p.Tyr762Cys	missense variant	-	NC_000016.10:g.19542678A>G	1000Genomes,ExAC,gnomAD
rs377710709	p.Leu763Val	missense variant	-	NC_000016.10:g.19542680C>G	ESP,ExAC,TOPMed,gnomAD
rs1465625610	p.Ser767Leu	missense variant	-	NC_000016.10:g.19542693C>T	gnomAD
rs570527798	p.Thr768Ala	missense variant	-	NC_000016.10:g.19542695A>G	ExAC,TOPMed,gnomAD
rs1177308446	p.Ser769Cys	missense variant	-	NC_000016.10:g.19542698A>T	TOPMed
NCI-TCGA novel	p.Leu771Phe	missense variant	-	NC_000016.10:g.19542706G>T	NCI-TCGA
rs1215245738	p.Thr777Arg	missense variant	-	NC_000016.10:g.19542723C>G	TOPMed
rs137959470	p.Phe780Leu	missense variant	-	NC_000016.10:g.19542733T>A	ESP,ExAC,gnomAD
rs1303396673	p.Gly781Arg	missense variant	-	NC_000016.10:g.19542734G>A	gnomAD
rs773487487	p.Ala783Gly	missense variant	-	NC_000016.10:g.19542741C>G	ExAC,gnomAD
rs770997702	p.Arg786Gly	missense variant	-	NC_000016.10:g.19542749A>G	ExAC,TOPMed,gnomAD
rs1368214649	p.Gln789Ter	stop gained	-	NC_000016.10:g.19542758C>T	gnomAD
NCI-TCGA novel	p.Gln789Glu	missense variant	-	NC_000016.10:g.19542758C>G	NCI-TCGA
rs1219286582	p.Gln789Arg	missense variant	-	NC_000016.10:g.19542759A>G	TOPMed,gnomAD
rs751120540	p.Ala797Pro	missense variant	-	NC_000016.10:g.19542899G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys798Thr	missense variant	-	NC_000016.10:g.19542903A>C	NCI-TCGA
rs781706317	p.Asn800Lys	missense variant	-	NC_000016.10:g.19542910C>A	ExAC,TOPMed,gnomAD
rs1214026141	p.Lys801Gln	missense variant	-	NC_000016.10:g.19542911A>C	TOPMed,gnomAD
rs1203185584	p.Ile802Met	missense variant	-	NC_000016.10:g.19542916A>G	TOPMed
rs1261247160	p.Ala806Gly	missense variant	-	NC_000016.10:g.19542927C>G	TOPMed
rs1233563623	p.Lys807Glu	missense variant	-	NC_000016.10:g.19542929A>G	TOPMed
NCI-TCGA novel	p.Leu810Val	missense variant	-	NC_000016.10:g.19542938C>G	NCI-TCGA
rs756544114	p.Arg812His	missense variant	-	NC_000016.10:g.19542945G>A	ExAC,gnomAD
COSM1376298	p.Arg812Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19542944C>T	NCI-TCGA Cosmic
COSM434767	p.Arg812Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19542944C>A	NCI-TCGA Cosmic
rs756544114	p.Arg812Leu	missense variant	-	NC_000016.10:g.19542945G>T	ExAC,gnomAD
rs748648698	p.Arg812Gly	missense variant	-	NC_000016.10:g.19542944C>G	ExAC,gnomAD
rs1301409466	p.Leu814Val	missense variant	-	NC_000016.10:g.19542950C>G	TOPMed
rs1477375024	p.Met815Ile	missense variant	-	NC_000016.10:g.19542955G>T	gnomAD
rs1427130599	p.Gln816Leu	missense variant	-	NC_000016.10:g.19542957A>T	gnomAD
rs1191272642	p.Gln816Glu	missense variant	-	NC_000016.10:g.19542956C>G	gnomAD
rs149194732	p.Asp818Asn	missense variant	-	NC_000016.10:g.19542962G>A	ESP,ExAC,TOPMed,gnomAD
rs1158026232	p.Lys819Glu	missense variant	-	NC_000016.10:g.19542965A>G	gnomAD
rs771212845	p.Gln822His	missense variant	-	NC_000016.10:g.19542976A>C	ExAC,gnomAD
rs749562029	p.Gln822Leu	missense variant	-	NC_000016.10:g.19542975A>T	ExAC,gnomAD
rs964391612	p.Leu823Ile	missense variant	-	NC_000016.10:g.19542977C>A	TOPMed
rs772276382	p.Arg824Gln	missense variant	-	NC_000016.10:g.19542981G>A	ExAC,gnomAD
rs746021450	p.Arg824Ter	stop gained	-	NC_000016.10:g.19542980C>T	ExAC,TOPMed,gnomAD
rs185526932	p.Met831Thr	missense variant	-	NC_000016.10:g.19544804T>C	1000Genomes,ExAC,gnomAD
rs765266598	p.Ile834Met	missense variant	-	NC_000016.10:g.19544814A>G	ExAC,TOPMed,gnomAD
rs1331195805	p.Ile834Leu	missense variant	-	NC_000016.10:g.19544812A>C	gnomAD
rs757554233	p.Arg835Lys	missense variant	-	NC_000016.10:g.19544816G>A	ExAC,gnomAD
rs779263989	p.Ser836Arg	missense variant	-	NC_000016.10:g.19544818A>C	ExAC,gnomAD
rs1228506242	p.Gln838Arg	missense variant	-	NC_000016.10:g.19544825A>G	gnomAD
NCI-TCGA novel	p.Ser839Ter	stop gained	-	NC_000016.10:g.19544828C>G	NCI-TCGA
rs1236424796	p.Ala841Pro	missense variant	-	NC_000016.10:g.19544833G>C	TOPMed
NCI-TCGA novel	p.Gly846Asp	missense variant	-	NC_000016.10:g.19544849G>A	NCI-TCGA
rs947857573	p.Ile847Leu	missense variant	-	NC_000016.10:g.19544851A>C	TOPMed,gnomAD
rs947857573	p.Ile847Val	missense variant	-	NC_000016.10:g.19544851A>G	TOPMed,gnomAD
rs780305663	p.Ile847Thr	missense variant	-	NC_000016.10:g.19544852T>C	ExAC,TOPMed,gnomAD
rs147470192	p.Ala850Val	missense variant	-	NC_000016.10:g.19544861C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769893974	p.Glu857Ter	stop gained	-	NC_000016.10:g.19544881G>T	ExAC,gnomAD
rs769893974	p.Glu857Gln	missense variant	-	NC_000016.10:g.19544881G>C	ExAC,gnomAD
rs1181727149	p.Glu857Gly	missense variant	-	NC_000016.10:g.19544882A>G	gnomAD
rs769893974	p.Glu857Lys	missense variant	-	NC_000016.10:g.19544881G>A	ExAC,gnomAD
rs772999597	p.Arg858Thr	missense variant	-	NC_000016.10:g.19544885G>C	ExAC,gnomAD
COSM434768	p.Val859Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19544887G>C	NCI-TCGA Cosmic
rs1182650506	p.Leu860Ser	missense variant	-	NC_000016.10:g.19544891T>C	gnomAD
NCI-TCGA novel	p.Ala861Val	missense variant	-	NC_000016.10:g.19544894C>T	NCI-TCGA
rs780391815	p.Arg864Gln	missense variant	-	NC_000016.10:g.19545098G>A	ExAC,TOPMed,gnomAD
rs1476977305	p.Arg864Ter	stop gained	-	NC_000016.10:g.19545097C>T	TOPMed,gnomAD
rs1424387169	p.Ala865Gly	missense variant	-	NC_000016.10:g.19545101C>G	gnomAD
rs747135278	p.Tyr868Phe	missense variant	-	NC_000016.10:g.19545110A>T	ExAC,gnomAD
rs777831149	p.Gly869Ser	missense variant	-	NC_000016.10:g.19545112G>A	ExAC,TOPMed,gnomAD
rs1415338960	p.Ile870Val	missense variant	-	NC_000016.10:g.19545115A>G	gnomAD
rs1336597371	p.His871Arg	missense variant	-	NC_000016.10:g.19545119A>G	gnomAD
rs749185007	p.Asp872Asn	missense variant	-	NC_000016.10:g.19545121G>A	ExAC,gnomAD
rs1163370109	p.Ile873Val	missense variant	-	NC_000016.10:g.19545124A>G	TOPMed
rs770840968	p.Phe875Val	missense variant	-	NC_000016.10:g.19545130T>G	ExAC,gnomAD
rs774035752	p.Ala880Thr	missense variant	-	NC_000016.10:g.19545145G>A	ExAC
rs1230454918	p.Arg882Ile	missense variant	-	NC_000016.10:g.19545152G>T	gnomAD
rs771749310	p.Ile885Val	missense variant	-	NC_000016.10:g.19545160A>G	ExAC,gnomAD
rs972862361	p.His887Arg	missense variant	-	NC_000016.10:g.19545167A>G	TOPMed
rs138289332	p.His887Tyr	missense variant	-	NC_000016.10:g.19545166C>T	1000Genomes,ExAC,gnomAD
rs751816493	p.His888Asn	missense variant	-	NC_000016.10:g.19545169C>A	ExAC,TOPMed,gnomAD
rs142274455	p.Arg890Gln	missense variant	-	NC_000016.10:g.19545176G>A	ESP,ExAC,TOPMed,gnomAD
rs142274455	p.Arg890Pro	missense variant	-	NC_000016.10:g.19545176G>C	ESP,ExAC,TOPMed,gnomAD
rs1216160727	p.Arg890Ter	stop gained	-	NC_000016.10:g.19545175C>T	gnomAD
rs556543609	p.Val892Phe	missense variant	-	NC_000016.10:g.19545181G>T	TOPMed,gnomAD
rs200116540	p.Arg893His	missense variant	-	NC_000016.10:g.19545185G>A	ExAC,TOPMed,gnomAD
rs762250914	p.Arg893Cys	missense variant	-	NC_000016.10:g.19545184C>T	ExAC,TOPMed,gnomAD
rs762250914	p.Arg893Ser	missense variant	-	NC_000016.10:g.19545184C>A	ExAC,TOPMed,gnomAD
rs1263610561	p.Glu895Lys	missense variant	-	NC_000016.10:g.19545190G>A	TOPMed
rs1478628312	p.Lys896Arg	missense variant	-	NC_000016.10:g.19545194A>G	gnomAD
rs200495908	p.Met897Thr	missense variant	-	NC_000016.10:g.19545197T>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Arg899Lys	missense variant	-	NC_000016.10:g.19545203G>A	NCI-TCGA
rs758814543	p.Gln900Arg	missense variant	-	NC_000016.10:g.19545206A>G	ExAC,gnomAD
rs766764369	p.Met901Leu	missense variant	-	NC_000016.10:g.19545208A>C	ExAC,TOPMed,gnomAD
rs976220859	p.Asp902Ala	missense variant	-	NC_000016.10:g.19545818A>C	TOPMed
rs773843576	p.Met904Leu	missense variant	-	NC_000016.10:g.19545823A>T	ExAC
rs1319741423	p.Lys905Arg	missense variant	-	NC_000016.10:g.19545827A>G	gnomAD
rs1265139140	p.Arg908Gln	missense variant	-	NC_000016.10:g.19545836G>A	gnomAD
rs555141039	p.Arg908Ter	stop gained	-	NC_000016.10:g.19545835C>T	ExAC,gnomAD
rs1265139140	p.Arg908Leu	missense variant	-	NC_000016.10:g.19545836G>T	gnomAD
rs1207713608	p.Val909Met	missense variant	-	NC_000016.10:g.19545838G>A	TOPMed,gnomAD
rs766853042	p.Ala914Thr	missense variant	-	NC_000016.10:g.19545853G>A	ExAC,TOPMed,gnomAD
rs1353619475	p.Thr915Ala	missense variant	-	NC_000016.10:g.19545856A>G	TOPMed
rs1275740399	p.Leu919Val	missense variant	-	NC_000016.10:g.19545868C>G	TOPMed,gnomAD
rs1246206002	p.Arg921Lys	missense variant	-	NC_000016.10:g.19545875G>A	TOPMed
rs751912759	p.Tyr924His	missense variant	-	NC_000016.10:g.19545883T>C	ExAC,TOPMed,gnomAD
rs751912759	p.Tyr924Asp	missense variant	-	NC_000016.10:g.19545883T>G	ExAC,TOPMed,gnomAD
rs565340675	p.Met925Ile	missense variant	-	NC_000016.10:g.19545888G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs373258310	p.Met925Thr	missense variant	-	NC_000016.10:g.19545887T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu929Asp	missense variant	-	NC_000016.10:g.19546421A>C	NCI-TCGA
rs1433258669	p.Gly931Val	missense variant	-	NC_000016.10:g.19546426G>T	gnomAD
rs1191110345	p.Met932Ile	missense variant	-	NC_000016.10:g.19546430G>A	gnomAD
rs1422277614	p.Lys935Thr	missense variant	-	NC_000016.10:g.19546438A>C	gnomAD
COSM3420808	p.Lys935Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19546439G>T	NCI-TCGA Cosmic
rs759910077	p.Lys936Glu	missense variant	-	NC_000016.10:g.19546440A>G	ExAC,gnomAD
rs1172366259	p.Phe937Ser	missense variant	-	NC_000016.10:g.19546444T>C	gnomAD
rs1337834368	p.Lys940Asn	missense variant	-	NC_000016.10:g.19546454A>T	TOPMed
rs1465320150	p.Thr946Pro	missense variant	-	NC_000016.10:g.19546470A>C	gnomAD
rs1303245438	p.Thr946Ile	missense variant	-	NC_000016.10:g.19546471C>T	gnomAD
rs1465320150	p.Thr946Ala	missense variant	-	NC_000016.10:g.19546470A>G	gnomAD
rs1412509523	p.Arg947Lys	missense variant	-	NC_000016.10:g.19546474G>A	TOPMed
rs1296506114	p.Val948Ile	missense variant	-	NC_000016.10:g.19547956G>A	gnomAD
rs747840221	p.Asn952Ser	missense variant	-	NC_000016.10:g.19547969A>G	ExAC,gnomAD
rs769270708	p.Gln953Ter	stop gained	-	NC_000016.10:g.19547971C>T	ExAC,gnomAD
rs769270708	p.Gln953Lys	missense variant	-	NC_000016.10:g.19547971C>A	ExAC,gnomAD
rs1480086313	p.Gly954Val	missense variant	-	NC_000016.10:g.19547975G>T	TOPMed
rs748764151	p.Gln955Lys	missense variant	-	NC_000016.10:g.19547977C>A	ExAC,gnomAD
rs1365630260	p.Gln955His	missense variant	-	NC_000016.10:g.19547979G>T	TOPMed,gnomAD
rs748764151	p.Gln955Glu	missense variant	-	NC_000016.10:g.19547977C>G	ExAC,gnomAD
rs746556110	p.Ala957Val	missense variant	-	NC_000016.10:g.19547984C>T	gnomAD
rs146625112	p.Pro958Thr	missense variant	-	NC_000016.10:g.19547986C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs558126308	p.Val959Leu	missense variant	-	NC_000016.10:g.19547989G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs759872553	p.Arg961Lys	missense variant	-	NC_000016.10:g.19547996G>A	ExAC,gnomAD
rs1284809070	p.Leu962Gln	missense variant	-	NC_000016.10:g.19547999T>A	gnomAD
rs1354013481	p.Leu963Ile	missense variant	-	NC_000016.10:g.19548001C>A	gnomAD
rs372991582	p.Ser964Asn	missense variant	-	NC_000016.10:g.19548005G>A	ESP,ExAC,gnomAD
rs1244452501	p.Arg965Ile	missense variant	-	NC_000016.10:g.19548008G>T	TOPMed,gnomAD
rs535461454	p.Gly967Arg	missense variant	-	NC_000016.10:g.19548013G>A	ExAC,TOPMed,gnomAD
rs535461454	p.Gly967Arg	missense variant	-	NC_000016.10:g.19548013G>C	ExAC,TOPMed,gnomAD
rs1404792561	p.Thr968Ser	missense variant	-	NC_000016.10:g.19548517C>G	gnomAD
rs775958648	p.Gly975Glu	missense variant	-	NC_000016.10:g.19548538G>A	ExAC,gnomAD
rs1014247338	p.Val976Phe	missense variant	-	NC_000016.10:g.19548540G>T	TOPMed,gnomAD
rs1331328210	p.Val976Ala	missense variant	-	NC_000016.10:g.19548541T>C	TOPMed,gnomAD
rs1042611389	p.Val977Met	missense variant	-	NC_000016.10:g.19548543G>A	gnomAD
rs761949612	p.Gln981Lys	missense variant	-	NC_000016.10:g.19548555C>A	ExAC,gnomAD
rs1489729810	p.Ser986Arg	missense variant	-	NC_000016.10:g.19548572C>G	TOPMed
rs1315577702	p.Arg987Lys	missense variant	-	NC_000016.10:g.19548574G>A	gnomAD
rs1197916640	p.Asn990Ser	missense variant	-	NC_000016.10:g.19548583A>G	gnomAD
rs1439284266	p.Pro993Leu	missense variant	-	NC_000016.10:g.19548592C>T	gnomAD
rs1207788885	p.Ser995Ter	stop gained	-	NC_000016.10:g.19548598C>G	gnomAD
rs1314386894	p.Val997Ala	missense variant	-	NC_000016.10:g.19551199T>C	gnomAD
rs778510509	p.Ala999Val	missense variant	-	NC_000016.10:g.19551205C>T	ExAC,gnomAD
rs1202723607	p.Ile1002Asn	missense variant	-	NC_000016.10:g.19551214T>A	TOPMed
rs1341428071	p.Arg1004Ser	missense variant	-	NC_000016.10:g.19551221A>C	gnomAD
rs758988242	p.Lys1005Gln	missense variant	-	NC_000016.10:g.19551222A>C	ExAC,gnomAD
rs780404219	p.Lys1005Met	missense variant	-	NC_000016.10:g.19551223A>T	ExAC,gnomAD
rs574908955	p.Arg1006Trp	missense variant	-	NC_000016.10:g.19551225C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM6143849	p.Arg1006Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19551226G>T	NCI-TCGA Cosmic
rs141344673	p.Arg1006Gln	missense variant	-	NC_000016.10:g.19551226G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs578098050	p.Pro1007Ala	missense variant	-	NC_000016.10:g.19551228C>G	1000Genomes,ExAC,gnomAD
COSM967908	p.Asn1008His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.19551231A>C	NCI-TCGA Cosmic
rs1193069174	p.Asn1008Asp	missense variant	-	NC_000016.10:g.19551231A>G	gnomAD
rs748381130	p.Val1009Ala	missense variant	-	NC_000016.10:g.19551235T>C	ExAC
rs374369419	p.Ala1010Val	missense variant	-	NC_000016.10:g.19551238C>T	ESP,ExAC,TOPMed,gnomAD
rs1356299324	p.Ala1010Thr	missense variant	-	NC_000016.10:g.19551237G>A	TOPMed
rs1424882069	p.Thr1011Ala	missense variant	-	NC_000016.10:g.19551240A>G	gnomAD
rs1399124688	p.Ter1013Leu	stop lost	-	NC_000016.10:g.19551247A>T	TOPMed

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0027022	Myeloproliferative disease	group	BEFREE
C0242379	Malignant neoplasm of lung	disease	BEFREE
C0684249	Carcinoma of lung	disease	BEFREE
C1292778	Chronic myeloproliferative disorder	disease	BEFREE
C1306460	Primary malignant neoplasm of lung	disease	BEFREE
C2827362	Myeloid and Lymphoid Neoplasms with FGFR1 Rearrangement	disease	BEFREE
C3266262	Multiple Chronic Conditions	disease	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000086	G2/M transition of mitotic cell cycle	TAS
GO:0007099	centriole replication	IMP
GO:0010389	regulation of G2/M transition of mitotic cell cycle	TAS
GO:0016579	protein deubiquitination	TAS
GO:0032053	ciliary basal body organization	ISS
GO:0032465	regulation of cytokinesis	IMP
GO:0045724	positive regulation of cilium assembly	ISS
GO:0051298	centrosome duplication	IMP
GO:0051298	centrosome duplication	IDA
GO:0097711	ciliary basal body-plasma membrane docking	TAS
GO:1902018	negative regulation of cilium assembly	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005813	centrosome	IDA
GO:0005814	centriole	IDA
GO:0005829	cytosol	TAS
GO:0005929	cilium	IEA
GO:0032991	protein-containing complex	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1640170	Cell Cycle	TAS
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-2565942	Regulation of PLK1 Activity at G2/M Transition	TAS
R-HSA-380259	Loss of Nlp from mitotic centrosomes	TAS
R-HSA-380270	Recruitment of mitotic centrosome proteins and complexes	TAS
R-HSA-380284	Loss of proteins required for interphase microtubule organization from the centrosome	TAS
R-HSA-380287	Centrosome maturation	TAS
R-HSA-380320	Recruitment of NuMA to mitotic centrosomes	TAS
R-HSA-392499	Metabolism of proteins	TAS
R-HSA-453274	Mitotic G2-G2/M phases	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5620912	Anchoring of the basal body to the plasma membrane	TAS
R-HSA-5688426	Deubiquitination	TAS
R-HSA-5689880	Ub-specific processing proteases	TAS
R-HSA-597592	Post-translational protein modification	TAS
R-HSA-68877	Mitotic Prometaphase	TAS
R-HSA-68886	M Phase	TAS
R-HSA-69275	G2/M Transition	TAS
R-HSA-69278	Cell Cycle, Mitotic	TAS
R-HSA-8854518	AURKA Activation by TPX2	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of CCP110 protein	20106945
D016604	Aflatoxin B1	Aflatoxin B1 results in decreased methylation of CCP110 promoter	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of CCP110 mRNA	30157460
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of CCP110 gene	27153756
D001564	Benzo(a)pyrene	Benzo(a)pyrene affects the methylation of CCP110 promoter	30157460
C026487	benzo(e)pyrene	benzo(e)pyrene results in increased methylation of CCP110 promoter	30157460
C006780	bisphenol A	bisphenol A affects the expression of CCP110 mRNA	25181051
C006780	bisphenol A	bisphenol A results in increased methylation of CCP110 gene	28505145
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of CCP110 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of CCP110 mRNA]	31150632
D002945	Cisplatin	Cisplatin results in increased expression of CCP110 mRNA	27594783
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of CCP110 mRNA	20971185
D019327	Copper Sulfate	Copper Sulfate results in increased expression of CCP110 mRNA	19549813
D003471	Cuprizone	Cuprizone results in decreased expression of CCP110 mRNA	27523638
D016572	Cyclosporine	Cyclosporine results in increased expression of CCP110 mRNA	20106945
D000431	Ethanol	Ethanol affects the splicing of CCP110 mRNA	30319688
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of CCP110 mRNA	23129252
D005020	Ethyl Methanesulfonate	Ethyl Methanesulfonate results in increased expression of CCP110 mRNA	23649840
D017313	Fenretinide	Fenretinide results in increased expression of CCP110 mRNA	28973697
D005557	Formaldehyde	Formaldehyde results in increased expression of CCP110 mRNA	23649840
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of CCP110 mRNA	25613284
C544151	jinfukang	jinfukang results in decreased expression of CCP110 mRNA	27392435
C482199	lipopolysaccharide, E coli O55-B5	lipopolysaccharide, E coli O55-B5 results in increased expression of CCP110 mRNA	24972896
D008701	Methapyrilene	Methapyrilene results in increased methylation of CCP110 promoter	30157460
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of CCP110 mRNA	23649840
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of CCP110 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of CCP110 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of CCP110 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of CCP110 mRNA	25620056
C028007	nickel monoxide	nickel monoxide results in decreased expression of CCP110 mRNA	19167457
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of CCP110 mRNA	20971185
D010100	Oxygen	[NFE2L2 protein affects the susceptibility to Oxygen] which affects the expression of CCP110 mRNA	30529165
C076994	perfluorooctane sulfonic acid	perfluorooctane sulfonic acid results in decreased expression of CCP110 mRNA	27153767
D011441	Propylthiouracil	Propylthiouracil results in decreased expression of CCP110 mRNA	24780913
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of CCP110 mRNA]	31150632
D000077210	Sunitinib	Sunitinib results in decreased expression of CCP110 mRNA	31533062
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of CCP110 mRNA	25613284
D014414	Tungsten	Tungsten results in decreased expression of CCP110 mRNA	30912803
D014635	Valproic Acid	Valproic Acid results in increased expression of CCP110 mRNA	29154799
C025643	vinclozolin	vinclozolin results in decreased expression of CCP110 mRNA	23034163

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0966	Cell projection
KW-0969	Cilium
KW-0970	Cilium biogenesis/degradation
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR033207	CCP110

PROSITE

PROSITE ID	PROSITE Term

Pfam

Pfam ID	Pfam Term

Gene: CCP110

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