CleftGeneDB-Search

Gene: CRAMP1

Basic information

Tag	Content
Uniprot ID	Q96RY5; A8MZL1; B1AJY1; Q8NDN1; Q9P2C1;
Entrez ID	57585
Genbank protein ID	AAK61288.1; CAD38692.1; BAA92664.2;
Genbank nucleotide ID	NM_020825.3
Ensembl protein ID	ENSP00000293925; ENSP00000380559;
Ensembl nucleotide ID	ENSG00000007545
Gene name	Protein cramped-like
Gene symbol	CRAMP1
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description
Sequence	MTVKLGDGGS GEDGLKKLGK RAADEESLEG EGAGGADAAE ESSGTKRDEK TPRAGADGPP 60 APPGAPQAPS PPQGSPQDQH HFLRSSVRPQ SKRPRKDPPS AVGSGNAGGS GPRGKGAEGG 120 GSSSGNVSGV APAAPAGGSR SSSRNLGSSG GEKEEGKKVR RQWESWSTED KNTFFEGLYE 180 HGKDFEAIQN NIALKYKKKG KPASMVKNKE QVRHFYYRTW HKITKYIDFD HVFSRGLKKS 240 SQELYGLICY GELRKKIGGC MDDKNATKLN ELIQVGATTV RYKGRNLRIK APMCRALKKL 300 CDPDGLSDEE DQKPVRLPLK VPIELQPRNN HAWARVQSLA QNPRLRMIVE LHRKVSSLIE 360 FLKQKWALHE VRVRKTLEER QLQDSCSAPM QEKVTLHLFP GENCTLTPLP GVARVVHSKA 420 FCTVHWQEGG RCKQSAKDAH VLPPAQILGI QSGQGTARGQ VKCPRSGAEG KGVGRPPPAA 480 DALQSSGESS PESAPGEGAA LSLSSPDAPD RPPPRHQDTG PCLEKTPAEG RDSPTREPGA 540 LPCACGQLPD LEDELSLLDP LPRYLKSCQD LIVPEQCRCA DTRPGSEQPP LGGAASPEVL 600 APVSKEAADL APTGPSPRPG PGLLLDVCTK DLADAPAEEL QEKGSPAGPP PSQGQPAARP 660 PKEVPASRLA QQLREEGWNL QTSESLTLAE VYLMMGKPSK LQLEYDWLGP GRQDPRPGSL 720 PTALHKQRLL SCLLKLISTE VNPKLALEAN TISTASVRPA QEEQSMTPPG KVVTVSSRSP 780 RCPRNQASLR SSKTFPPSSA PCSSGLRNPP RPLLVPGPSS TGSNDSDGGL FAVPTTLPPN 840 SRHGKLFSPS KEAELTFRQH LNSISMQSDF FLPKPRKLRN RHLRKPLVVQ RTLLPRPSEN 900 QSHNVCSFSI LSNSSVTGRG SFRPIQSSLT KAALSRPIVP KVLPPQATSH LASAIDLAAT 960 SAGILSGNPL PALDTEGLSG ISPLSSDEVT GAISGQDSTG THQDGDTLPT VGGSDPFVSI 1020 PSRPEQEPVA DSFQGSSVLS LSELPKAPLQ NGLSIPLSSS ESSSTRLSPP DVSALLDISL 1080 PGPPEDALSQ GEPATHISDS IIEIAISSGQ YGEGVPLSPA KLNGSDSSKS LPSPSSSPQP 1140 HWIASPTHDP QWYPSDSTDS SLSSLFASFI SPEKSRKMLP TPIGTNSGTS LLGPSLLDGN 1200 SRDSFVSRSL ADVAEVVDSQ LVCMMNENSI DYISRFNDLA QELSIAEPGR REALFDGGGG 1260 GPAVSDLSQ 1269

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 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	CRAMP1	520515	E1BN92		Bos taurus	Prediction	More>>
1:1 ortholog	CRAMP1		F1P887		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	CRAMP1		A0A452DN69		Capra hircus	Prediction	More>>
1:1 ortholog	CRAMP1	57585	Q96RY5		Homo sapiens	Prediction	More>>
1:1 ortholog	Cramp1	57354	Q6PG95	CPO	Mus musculus	Publication	More>>
1:1 ortholog	CRAMP1	453823	A0A2J8J7V5		Pan troglodytes	Prediction	More>>
1:1 ortholog	CRAMP1		G1SMY0		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Cramp1		D3ZNU3		Rattus norvegicus	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1219238128	p.Gly8Cys	missense variant	-	NC_000016.10:g.1614661G>T	gnomAD
rs971145177	p.Glu12Lys	missense variant	-	NC_000016.10:g.1614673G>A	TOPMed,gnomAD
rs1187084243	p.Glu12Asp	missense variant	-	NC_000016.10:g.1614675G>T	gnomAD
rs980268947	p.Asp13Glu	missense variant	-	NC_000016.10:g.1614678C>G	TOPMed,gnomAD
rs755456226	p.Leu18Val	missense variant	-	NC_000016.10:g.1614691C>G	ExAC,TOPMed,gnomAD
rs926923881	p.Gly19Ala	missense variant	-	NC_000016.10:g.1614695G>C	TOPMed,gnomAD
rs926923881	p.Gly19Asp	missense variant	-	NC_000016.10:g.1614695G>A	TOPMed,gnomAD
rs1470687329	p.Arg21Gly	missense variant	-	NC_000016.10:g.1614700C>G	gnomAD
rs1394012662	p.Arg21Pro	missense variant	-	NC_000016.10:g.1614701G>C	TOPMed
rs1470687329	p.Arg21Trp	missense variant	-	NC_000016.10:g.1614700C>T	gnomAD
rs1387828253	p.Glu26Asp	missense variant	-	NC_000016.10:g.1614717G>C	TOPMed,gnomAD
rs1320200243	p.Glu29Lys	missense variant	-	NC_000016.10:g.1614724G>A	gnomAD
rs1286586315	p.Gly34Ser	missense variant	-	NC_000016.10:g.1614739G>A	TOPMed
rs1343092066	p.Gly35Ser	missense variant	-	NC_000016.10:g.1614742G>A	TOPMed,gnomAD
rs957076005	p.Asp37Asn	missense variant	-	NC_000016.10:g.1614748G>A	TOPMed,gnomAD
rs957076005	p.Asp37Tyr	missense variant	-	NC_000016.10:g.1614748G>T	TOPMed,gnomAD
rs1281129131	p.Ala38Val	missense variant	-	NC_000016.10:g.1614752C>T	TOPMed
rs1234857064	p.Ala39Gly	missense variant	-	NC_000016.10:g.1614755C>G	TOPMed
rs1349986954	p.Glu41Ala	missense variant	-	NC_000016.10:g.1614761A>C	TOPMed
rs1268155436	p.Gly44Val	missense variant	-	NC_000016.10:g.1614770G>T	TOPMed
rs1268155436	p.Gly44Asp	missense variant	-	NC_000016.10:g.1614770G>A	TOPMed
rs1326855765	p.Lys46Thr	missense variant	-	NC_000016.10:g.1614776A>C	TOPMed
rs758590705	p.Arg47Ser	missense variant	-	NC_000016.10:g.1614780G>T	ExAC,gnomAD
rs1412544135	p.Asp48Asn	missense variant	-	NC_000016.10:g.1614781G>A	TOPMed
rs1374263754	p.Glu49Gly	missense variant	-	NC_000016.10:g.1614785A>G	TOPMed
rs1193029475	p.Glu49Ter	stop gained	-	NC_000016.10:g.1614784G>T	gnomAD
rs778126645	p.Thr51Asn	missense variant	-	NC_000016.10:g.1614791C>A	ExAC,gnomAD
rs1199511068	p.Pro52Leu	missense variant	-	NC_000016.10:g.1614794C>T	gnomAD
rs1481180447	p.Pro52Ala	missense variant	-	NC_000016.10:g.1614793C>G	TOPMed,gnomAD
rs1244264287	p.Ala54Thr	missense variant	-	NC_000016.10:g.1614799G>A	TOPMed
rs1455173074	p.Gly55Ser	missense variant	-	NC_000016.10:g.1614802G>A	TOPMed,gnomAD
rs770853672	p.Ala56Val	missense variant	-	NC_000016.10:g.1614806C>T	ExAC,gnomAD
rs1404587625	p.Asp57Asn	missense variant	-	NC_000016.10:g.1614808G>A	TOPMed,gnomAD
rs1258251649	p.Gly58Cys	missense variant	-	NC_000016.10:g.1614811G>T	TOPMed
rs1343888012	p.Pro59Ser	missense variant	-	NC_000016.10:g.1614814C>T	TOPMed,gnomAD
rs776510604	p.Pro60Ser	missense variant	-	NC_000016.10:g.1614817C>T	ExAC,TOPMed,gnomAD
rs776510604	p.Pro60Ala	missense variant	-	NC_000016.10:g.1614817C>G	ExAC,TOPMed,gnomAD
rs1049843132	p.Ala61Thr	missense variant	-	NC_000016.10:g.1614820G>A	TOPMed
rs1350015646	p.Pro62Thr	missense variant	-	NC_000016.10:g.1614823C>A	TOPMed,gnomAD
rs1007968040	p.Pro62Leu	missense variant	-	NC_000016.10:g.1614824C>T	TOPMed,gnomAD
rs1007968040	p.Pro62His	missense variant	-	NC_000016.10:g.1614824C>A	TOPMed,gnomAD
rs1350015646	p.Pro62Ser	missense variant	-	NC_000016.10:g.1614823C>T	TOPMed,gnomAD
rs1281811404	p.Gly64Ser	missense variant	-	NC_000016.10:g.1614829G>A	gnomAD
rs189020189	p.Ala68Val	missense variant	-	NC_000016.10:g.1614842C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs971976818	p.Ser70Phe	missense variant	-	NC_000016.10:g.1614848C>T	TOPMed
rs1232439679	p.Pro72Leu	missense variant	-	NC_000016.10:g.1614854C>T	TOPMed
rs1203663202	p.Ser75Asn	missense variant	-	NC_000016.10:g.1614863G>A	TOPMed
rs1001291682	p.Pro76Ser	missense variant	-	NC_000016.10:g.1614865C>T	TOPMed,gnomAD
rs1259707658	p.Gln77Arg	missense variant	-	NC_000016.10:g.1614869A>G	TOPMed
rs1211558311	p.His81Arg	missense variant	-	NC_000016.10:g.1614881A>G	TOPMed
rs1250582415	p.Arg84Leu	missense variant	-	NC_000016.10:g.1614890G>T	gnomAD
rs1364337672	p.Ser86Asn	missense variant	-	NC_000016.10:g.1614896G>A	gnomAD
rs1034098447	p.Ser86Arg	missense variant	-	NC_000016.10:g.1614895A>C	TOPMed
rs1472395272	p.Val87Ala	missense variant	-	NC_000016.10:g.1614899T>C	gnomAD
rs1161248304	p.Arg88Trp	missense variant	-	NC_000016.10:g.1614901C>T	gnomAD
rs1304036157	p.Gln90His	missense variant	-	NC_000016.10:g.1614909G>T	gnomAD
rs774899859	p.Ser91Gly	missense variant	-	NC_000016.10:g.1614910A>G	ExAC,gnomAD
rs957023853	p.Pro94Leu	missense variant	-	NC_000016.10:g.1614920C>T	TOPMed,gnomAD
rs957023853	p.Pro94His	missense variant	-	NC_000016.10:g.1614920C>A	TOPMed,gnomAD
rs1336875615	p.Arg95Gly	missense variant	-	NC_000016.10:g.1614922A>G	gnomAD
rs762499648	p.Arg95Lys	missense variant	-	NC_000016.10:g.1614923G>A	ExAC,gnomAD
rs1362097385	p.Lys96Arg	missense variant	-	NC_000016.10:g.1614926A>G	gnomAD
rs1313536828	p.Lys96Glu	missense variant	-	NC_000016.10:g.1614925A>G	gnomAD
rs1273510180	p.Pro98Ser	missense variant	-	NC_000016.10:g.1614931C>T	TOPMed,gnomAD
rs1481843454	p.Pro98His	missense variant	-	NC_000016.10:g.1614932C>A	gnomAD
rs1441332624	p.Pro99Arg	missense variant	-	NC_000016.10:g.1614935C>G	TOPMed,gnomAD
rs1441332624	p.Pro99Gln	missense variant	-	NC_000016.10:g.1614935C>A	TOPMed,gnomAD
rs1250533440	p.Pro99Thr	missense variant	-	NC_000016.10:g.1614934C>A	gnomAD
rs1441332624	p.Pro99Leu	missense variant	-	NC_000016.10:g.1614935C>T	TOPMed,gnomAD
rs761391734	p.Ser100Asn	missense variant	-	NC_000016.10:g.1614938G>A	ExAC,gnomAD
rs761391734	p.Ser100Ile	missense variant	-	NC_000016.10:g.1614938G>T	ExAC,gnomAD
rs766748223	p.Ala101Val	missense variant	-	NC_000016.10:g.1614941C>T	ExAC,TOPMed,gnomAD
rs1386992172	p.Ala101Thr	missense variant	-	NC_000016.10:g.1614940G>A	gnomAD
rs959779059	p.Val102Ala	missense variant	-	NC_000016.10:g.1614944T>C	TOPMed,gnomAD
rs1466295769	p.Gly103Val	missense variant	-	NC_000016.10:g.1614947G>T	gnomAD
rs867649752	p.Ala107Asp	missense variant	-	NC_000016.10:g.1614959C>A	TOPMed
rs867649752	p.Ala107Gly	missense variant	-	NC_000016.10:g.1614959C>G	TOPMed
rs1189367719	p.Ser110Leu	missense variant	-	NC_000016.10:g.1614968C>T	gnomAD
rs1241675039	p.Gly111Ala	missense variant	-	NC_000016.10:g.1614971G>C	gnomAD
rs1273580901	p.Gly114Val	missense variant	-	NC_000016.10:g.1614980G>T	TOPMed
rs573480682	p.Gly119Asp	missense variant	-	NC_000016.10:g.1625982G>A	1000Genomes
NCI-TCGA novel	p.Gly119Ser	missense variant	-	NC_000016.10:g.1625981G>A	NCI-TCGA
rs150953427	p.Gly120Val	missense variant	-	NC_000016.10:g.1625985G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773796360	p.Ser123Trp	missense variant	-	NC_000016.10:g.1625994C>G	ExAC,TOPMed,gnomAD
rs773796360	p.Ser123Leu	missense variant	-	NC_000016.10:g.1625994C>T	ExAC,TOPMed,gnomAD
rs1348614428	p.Asn126Tyr	missense variant	-	NC_000016.10:g.1626002A>T	TOPMed,gnomAD
rs1208975775	p.Asn126Ile	missense variant	-	NC_000016.10:g.1626003A>T	TOPMed
rs1221081961	p.Ser128Pro	missense variant	-	NC_000016.10:g.1626008T>C	TOPMed,gnomAD
rs1247864332	p.Ser128Phe	missense variant	-	NC_000016.10:g.1626009C>T	gnomAD
rs761476573	p.Ala131Val	missense variant	-	NC_000016.10:g.1626018C>T	ExAC,gnomAD
rs1203917411	p.Ala134Val	missense variant	-	NC_000016.10:g.1626027C>T	gnomAD
rs922040781	p.Ser139Leu	missense variant	-	NC_000016.10:g.1626042C>T	TOPMed,gnomAD
rs1178329467	p.Arg140Cys	missense variant	-	NC_000016.10:g.1626044C>T	TOPMed,gnomAD
rs189953736	p.Arg140His	missense variant	-	NC_000016.10:g.1626045G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs904231704	p.Ser141Phe	missense variant	-	NC_000016.10:g.1626048C>T	TOPMed,gnomAD
rs932054082	p.Ser141Thr	missense variant	-	NC_000016.10:g.1626047T>A	TOPMed,gnomAD
rs1357472024	p.Ser143Pro	missense variant	-	NC_000016.10:g.1626053T>C	TOPMed
rs1385486571	p.Arg144Trp	missense variant	-	NC_000016.10:g.1626056C>T	TOPMed,gnomAD
rs1043739025	p.Arg144Gln	missense variant	-	NC_000016.10:g.1626057G>A	TOPMed,gnomAD
rs1408941516	p.Leu146Ile	missense variant	-	NC_000016.10:g.1626062T>A	gnomAD
rs1195429403	p.Gly147Arg	missense variant	-	NC_000016.10:g.1626065G>A	TOPMed
rs776901191	p.Ser148Phe	missense variant	-	NC_000016.10:g.1626069C>T	ExAC,gnomAD
rs759924595	p.Gly150Ser	missense variant	-	NC_000016.10:g.1626074G>A	ExAC,TOPMed,gnomAD
rs1302237508	p.Glu152Asp	missense variant	-	NC_000016.10:g.1626082G>C	gnomAD
rs954424216	p.Lys157Arg	missense variant	-	NC_000016.10:g.1626096A>G	TOPMed,gnomAD
rs1008535036	p.Arg160Trp	missense variant	-	NC_000016.10:g.1626104C>T	TOPMed,gnomAD
rs1214261343	p.Thr168Ala	missense variant	-	NC_000016.10:g.1626128A>G	TOPMed,gnomAD
COSM4930582	p.Thr168Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1626128A>T	NCI-TCGA Cosmic
rs1205257628	p.Lys171Glu	missense variant	-	NC_000016.10:g.1626137A>G	gnomAD
NCI-TCGA novel	p.Lys171Asn	missense variant	-	NC_000016.10:g.1626139G>T	NCI-TCGA
NCI-TCGA novel	p.Glu180Gln	missense variant	-	NC_000016.10:g.1626164G>C	NCI-TCGA
rs1481117171	p.Gly182Arg	missense variant	-	NC_000016.10:g.1632215G>A	gnomAD
rs768535917	p.Lys183Gln	missense variant	-	NC_000016.10:g.1632218A>C	ExAC,gnomAD
rs778425846	p.Ala187Val	missense variant	-	NC_000016.10:g.1632231C>T	ExAC,gnomAD
rs1275540838	p.Gln189His	missense variant	-	NC_000016.10:g.1632238G>C	gnomAD
rs771761990	p.Asn191Thr	missense variant	-	NC_000016.10:g.1632243A>C	ExAC,gnomAD
rs771761990	p.Asn191Ser	missense variant	-	NC_000016.10:g.1632243A>G	ExAC,gnomAD
rs772907182	p.Ala193Val	missense variant	-	NC_000016.10:g.1632249C>T	ExAC,gnomAD
COSM4398305	p.Lys201Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1632272A>G	NCI-TCGA Cosmic
rs1284524026	p.Pro202Leu	missense variant	-	NC_000016.10:g.1632276C>T	gnomAD
rs374087962	p.Ala203Val	missense variant	-	NC_000016.10:g.1632279C>T	ESP,ExAC,TOPMed,gnomAD
rs374087962	p.Ala203Gly	missense variant	-	NC_000016.10:g.1632279C>G	ESP,ExAC,TOPMed,gnomAD
COSM471376	p.Gln211His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1632304G>C	NCI-TCGA Cosmic
COSM218487	p.Arg213His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1632309G>A	NCI-TCGA Cosmic
rs1447922714	p.Arg213Cys	missense variant	-	NC_000016.10:g.1632308C>T	gnomAD
COSM1202238	p.Arg218His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1632324G>A	NCI-TCGA Cosmic
rs1266283755	p.Arg218Cys	missense variant	-	NC_000016.10:g.1632323C>T	gnomAD
NCI-TCGA novel	p.His221Arg	missense variant	-	NC_000016.10:g.1632333A>G	NCI-TCGA
rs1199446334	p.Ile227Leu	missense variant	-	NC_000016.10:g.1632350A>C	TOPMed,gnomAD
rs1199446334	p.Ile227Val	missense variant	-	NC_000016.10:g.1632350A>G	TOPMed,gnomAD
rs374865451	p.Asp228Gly	missense variant	-	NC_000016.10:g.1632354A>G	ESP,TOPMed
rs767702181	p.Asp228Asn	missense variant	-	NC_000016.10:g.1632353G>A	ExAC,gnomAD
rs751986801	p.Asp230Asn	missense variant	-	NC_000016.10:g.1632359G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp230His	missense variant	-	NC_000016.10:g.1632359G>C	NCI-TCGA
rs756236974	p.His231Asn	missense variant	-	NC_000016.10:g.1632362C>A	ExAC,gnomAD
rs754756618	p.Phe233Leu	missense variant	-	NC_000016.10:g.1637826T>C	ExAC,gnomAD
rs754756618	p.Phe233Val	missense variant	-	NC_000016.10:g.1637826T>G	ExAC,gnomAD
rs374268526	p.Arg235Gln	missense variant	-	NC_000016.10:g.1637833G>A	ESP,ExAC,TOPMed,gnomAD
rs765227718	p.Arg235Gly	missense variant	-	NC_000016.10:g.1637832C>G	ExAC,TOPMed,gnomAD
rs765227718	p.Arg235Ter	stop gained	-	NC_000016.10:g.1637832C>T	ExAC,TOPMed,gnomAD
COSM6041613	p.Lys238Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1637843G>T	NCI-TCGA Cosmic
rs945205606	p.Ser241Phe	missense variant	-	NC_000016.10:g.1637851C>T	TOPMed
rs777373587	p.Gln242Arg	missense variant	-	NC_000016.10:g.1637854A>G	ExAC,gnomAD
rs1335299316	p.Tyr245Cys	missense variant	-	NC_000016.10:g.1637863A>G	gnomAD
NCI-TCGA novel	p.Gly246Asp	missense variant	-	NC_000016.10:g.1637866G>A	NCI-TCGA
rs1385499777	p.Leu247Val	missense variant	-	NC_000016.10:g.1637868C>G	gnomAD
rs1299312837	p.Cys249Arg	missense variant	-	NC_000016.10:g.1637874T>C	TOPMed
rs749735014	p.Gly251Ser	missense variant	-	NC_000016.10:g.1637880G>A	ExAC,TOPMed,gnomAD
rs769148788	p.Glu252Lys	missense variant	-	NC_000016.10:g.1637883G>A	ExAC,TOPMed,gnomAD
rs1228996874	p.Arg254Cys	missense variant	-	NC_000016.10:g.1637889C>T	gnomAD
rs774802113	p.Lys255Glu	missense variant	-	NC_000016.10:g.1637892A>G	ExAC,gnomAD
rs1201762645	p.Ile257Thr	missense variant	-	NC_000016.10:g.1637899T>C	gnomAD
COSM287445	p.Cys260Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1641139G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys260LeuPheSerTerUnk	frameshift	-	NC_000016.10:g.1637900_1637901insG	NCI-TCGA
NCI-TCGA novel	p.Met261Ile	missense variant	-	NC_000016.10:g.1641143G>T	NCI-TCGA
rs1163635279	p.Asn265Ser	missense variant	-	NC_000016.10:g.1641154A>G	TOPMed
rs188107020	p.Thr267Ala	missense variant	-	NC_000016.10:g.1641159A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys268Arg	missense variant	-	NC_000016.10:g.1641163A>G	NCI-TCGA
NCI-TCGA novel	p.Leu269Pro	missense variant	-	NC_000016.10:g.1641166T>C	NCI-TCGA
rs374271727	p.Asn270Ser	missense variant	-	NC_000016.10:g.1641169A>G	ESP,ExAC,TOPMed,gnomAD
rs759782717	p.Gln274His	missense variant	-	NC_000016.10:g.1641182G>C	ExAC
rs1304756435	p.Gln274Ter	stop gained	-	NC_000016.10:g.1641180C>T	gnomAD
rs765411405	p.Val275Ile	missense variant	-	NC_000016.10:g.1641183G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val275Ala	missense variant	-	NC_000016.10:g.1641184T>C	NCI-TCGA
rs1266217656	p.Ala277Val	missense variant	-	NC_000016.10:g.1652498C>T	gnomAD
rs1199539300	p.Arg281His	missense variant	-	NC_000016.10:g.1652510G>A	gnomAD
rs768884081	p.Tyr282Ter	stop gained	-	NC_000016.10:g.1652514C>A	ExAC,gnomAD
rs1160174156	p.Arg285Leu	missense variant	-	NC_000016.10:g.1652522G>T	gnomAD
NCI-TCGA novel	p.Arg285Gln	missense variant	-	NC_000016.10:g.1652522G>A	NCI-TCGA
rs1420615415	p.Asn286Lys	missense variant	-	NC_000016.10:g.1652526C>A	gnomAD
rs1407125732	p.Arg288Gln	missense variant	-	NC_000016.10:g.1652531G>A	TOPMed,gnomAD
rs761679145	p.Ala291Val	missense variant	-	NC_000016.10:g.1652540C>T	ExAC,TOPMed,gnomAD
rs1323932458	p.Pro292Ser	missense variant	-	NC_000016.10:g.1652542C>T	TOPMed
rs1382260179	p.Met293Val	missense variant	-	NC_000016.10:g.1652545A>G	TOPMed
rs1157490074	p.Leu297Val	missense variant	-	NC_000016.10:g.1652557C>G	TOPMed
COSM3817316	p.Lys298Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1652562G>C	NCI-TCGA Cosmic
rs772771667	p.Cys301Trp	missense variant	-	NC_000016.10:g.1652571C>G	TOPMed,gnomAD
rs1209863020	p.Asp302Asn	missense variant	-	NC_000016.10:g.1652572G>A	gnomAD
rs1272218272	p.Pro303Ser	missense variant	-	NC_000016.10:g.1652575C>T	gnomAD
rs1322659388	p.Gly305Val	missense variant	-	NC_000016.10:g.1653033G>T	gnomAD
rs536108473	p.Glu309Asp	missense variant	-	NC_000016.10:g.1653046A>C	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Glu309Lys	missense variant	-	NC_000016.10:g.1653044G>A	NCI-TCGA
rs1483438987	p.Asp311Asn	missense variant	-	NC_000016.10:g.1653050G>A	gnomAD
COSM3817318	p.Gln312His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1653055G>C	NCI-TCGA Cosmic
rs756656583	p.Val315Ala	missense variant	-	NC_000016.10:g.1653063T>C	ExAC,TOPMed,gnomAD
rs201507795	p.Arg316Pro	missense variant	-	NC_000016.10:g.1653066G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro318Thr	missense variant	-	NC_000016.10:g.1653071C>A	NCI-TCGA
COSM3506475	p.Pro322Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1653083C>T	NCI-TCGA Cosmic
rs1480430024	p.Ile323Val	missense variant	-	NC_000016.10:g.1653086A>G	gnomAD
rs1346153748	p.Pro327Leu	missense variant	-	NC_000016.10:g.1653099C>T	gnomAD
rs1157656622	p.Arg328Gln	missense variant	-	NC_000016.10:g.1653102G>A	gnomAD
rs748398208	p.Arg328Trp	missense variant	-	NC_000016.10:g.1653101C>T	ExAC,gnomAD
rs777747793	p.Ala332Ser	missense variant	-	NC_000016.10:g.1653113G>T	ExAC,gnomAD
rs1298207578	p.Ala332Val	missense variant	-	NC_000016.10:g.1653114C>T	gnomAD
rs777747793	p.Ala332Thr	missense variant	-	NC_000016.10:g.1653113G>A	ExAC,gnomAD
rs1298207578	p.Ala332Gly	missense variant	-	NC_000016.10:g.1653114C>G	gnomAD
rs1385052695	p.Trp333Ter	stop gained	-	NC_000016.10:g.1653118G>A	gnomAD
rs1312581911	p.Arg335Cys	missense variant	-	NC_000016.10:g.1653122C>T	TOPMed,gnomAD
rs746775641	p.Arg335His	missense variant	-	NC_000016.10:g.1653123G>A	ExAC,gnomAD
rs1184450872	p.Val336Met	missense variant	-	NC_000016.10:g.1653125G>A	TOPMed
COSM967606	p.Gln337Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.1653128C>T	NCI-TCGA Cosmic
rs576149115	p.Ser338Thr	missense variant	-	NC_000016.10:g.1653132G>C	1000Genomes,gnomAD
rs545225765	p.Leu339Val	missense variant	-	NC_000016.10:g.1653134C>G	1000Genomes,ExAC,gnomAD
rs776622964	p.Gln341Leu	missense variant	-	NC_000016.10:g.1653141A>T	ExAC,gnomAD
rs1286915552	p.Arg344Cys	missense variant	-	NC_000016.10:g.1653149C>T	gnomAD
rs1372513822	p.Met347Leu	missense variant	-	NC_000016.10:g.1655220A>T	TOPMed,gnomAD
COSM3817320	p.Met347Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1655222G>T	NCI-TCGA Cosmic
rs771343996	p.Ile348Val	missense variant	-	NC_000016.10:g.1655223A>G	ExAC,gnomAD
rs371062747	p.Ile348Met	missense variant	-	NC_000016.10:g.1655225C>G	ESP,ExAC,TOPMed,gnomAD
rs1310301281	p.Val349Met	missense variant	-	NC_000016.10:g.1655226G>A	gnomAD
rs1378628673	p.His352Arg	missense variant	-	NC_000016.10:g.1655236A>G	gnomAD
rs765813513	p.Arg353Ter	stop gained	-	NC_000016.10:g.1655238C>T	ExAC,gnomAD
rs1315005647	p.Arg353Gln	missense variant	-	NC_000016.10:g.1655239G>A	gnomAD
rs763115931	p.Lys354Arg	missense variant	-	NC_000016.10:g.1655242A>G	ExAC,gnomAD
rs764199141	p.Lys354Asn	missense variant	-	NC_000016.10:g.1655243G>C	ExAC,TOPMed,gnomAD
rs764199141	p.Lys354Asn	missense variant	-	NC_000016.10:g.1655243G>T	ExAC,TOPMed,gnomAD
rs891213533	p.Val355Leu	missense variant	-	NC_000016.10:g.1655244G>C	TOPMed
rs1459397436	p.Ser357Gly	missense variant	-	NC_000016.10:g.1655250A>G	gnomAD
rs757372138	p.Leu358Val	missense variant	-	NC_000016.10:g.1655253C>G	ExAC,TOPMed,gnomAD
rs371683187	p.Ile359Met	missense variant	-	NC_000016.10:g.1655258C>G	ExAC,TOPMed,gnomAD
rs962654737	p.Glu360Lys	missense variant	-	NC_000016.10:g.1655259G>A	TOPMed
COSM967608	p.Phe361Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1655264C>A	NCI-TCGA Cosmic
rs1018288124	p.Lys363Met	missense variant	-	NC_000016.10:g.1655269A>T	TOPMed
COSM6143372	p.Gln364His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1655273G>C	NCI-TCGA Cosmic
rs1199449414	p.Trp366Cys	missense variant	-	NC_000016.10:g.1655279G>C	TOPMed
rs1302232880	p.Trp366Arg	missense variant	-	NC_000016.10:g.1655277T>C	gnomAD
rs748863527	p.Ala367Val	missense variant	-	NC_000016.10:g.1655281C>T	ExAC,TOPMed,gnomAD
rs779955361	p.Ala367Thr	missense variant	-	NC_000016.10:g.1655280G>A	ExAC,TOPMed,gnomAD
rs777096385	p.His369Arg	missense variant	-	NC_000016.10:g.1655287A>G	ExAC,gnomAD
NCI-TCGA novel	p.His369Leu	missense variant	-	NC_000016.10:g.1655287A>T	NCI-TCGA
rs1357197622	p.Val371Leu	missense variant	-	NC_000016.10:g.1655292G>C	gnomAD
rs1446172327	p.Arg372Gly	missense variant	-	NC_000016.10:g.1655295C>G	gnomAD
rs376268761	p.Arg372Gln	missense variant	-	NC_000016.10:g.1655296G>A	1000Genomes,ESP,ExAC,gnomAD
rs1446172327	p.Arg372Ter	stop gained	-	NC_000016.10:g.1655295C>T	gnomAD
rs749843552	p.Arg374Trp	missense variant	-	NC_000016.10:g.1655877C>T	ExAC,TOPMed,gnomAD
rs202240948	p.Arg374Gln	missense variant	-	NC_000016.10:g.1655878G>A	ESP,ExAC,TOPMed,gnomAD
rs774537583	p.Thr376Ile	missense variant	-	NC_000016.10:g.1655884C>T	ExAC,gnomAD
rs991733349	p.Glu378Lys	missense variant	-	NC_000016.10:g.1655889G>A	TOPMed
rs1191496741	p.Glu379Asp	missense variant	-	NC_000016.10:g.1655894G>C	gnomAD
rs200244880	p.Arg380Gln	missense variant	-	NC_000016.10:g.1655896G>A	ESP,ExAC,TOPMed,gnomAD
rs374369637	p.Arg380Trp	missense variant	-	NC_000016.10:g.1655895C>T	ESP,ExAC,TOPMed,gnomAD
rs766187790	p.Leu382Arg	missense variant	-	NC_000016.10:g.1655902T>G	ExAC,gnomAD
rs1362591651	p.Gln383Arg	missense variant	-	NC_000016.10:g.1655905A>G	gnomAD
rs1270457092	p.Gln383Ter	stop gained	-	NC_000016.10:g.1655904C>T	gnomAD
rs753595082	p.Asp384Tyr	missense variant	-	NC_000016.10:g.1655907G>T	ExAC,gnomAD
rs942331561	p.Ser385Leu	missense variant	-	NC_000016.10:g.1655911C>T	TOPMed,gnomAD
rs1439066440	p.Cys386Arg	missense variant	-	NC_000016.10:g.1655913T>C	gnomAD
rs1252295610	p.Ser387Phe	missense variant	-	NC_000016.10:g.1655917C>T	TOPMed
rs368481277	p.Ala388Val	missense variant	-	NC_000016.10:g.1655920C>T	ESP,ExAC,TOPMed,gnomAD
rs1013059877	p.Ala388Thr	missense variant	-	NC_000016.10:g.1655919G>A	TOPMed,gnomAD
rs757848793	p.Pro389Leu	missense variant	-	NC_000016.10:g.1655923C>T	ExAC,gnomAD
rs1213100086	p.Met390Leu	missense variant	-	NC_000016.10:g.1655925A>C	TOPMed,gnomAD
rs372570796	p.Met390Ile	missense variant	-	NC_000016.10:g.1655927G>A	ESP,ExAC,TOPMed,gnomAD
rs372570796	p.Met390Ile	missense variant	-	NC_000016.10:g.1655927G>T	ESP,ExAC,TOPMed,gnomAD
rs1323027784	p.Met390Thr	missense variant	-	NC_000016.10:g.1655926T>C	TOPMed
rs780606038	p.Gln391Leu	missense variant	-	NC_000016.10:g.1655929A>T	ExAC,gnomAD
rs749647085	p.Val394Met	missense variant	-	NC_000016.10:g.1655937G>A	ExAC,gnomAD
rs769342939	p.Thr395Ser	missense variant	-	NC_000016.10:g.1655940A>T	ExAC,gnomAD
rs779285294	p.Thr395Ile	missense variant	-	NC_000016.10:g.1655941C>T	ExAC,TOPMed,gnomAD
rs1031338762	p.Gly401Asp	missense variant	-	NC_000016.10:g.1655959G>A	TOPMed
rs771115810	p.Glu402Lys	missense variant	-	NC_000016.10:g.1655961G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu402Ter	stop gained	-	NC_000016.10:g.1655961G>T	NCI-TCGA
rs139383664	p.Leu406Val	missense variant	-	NC_000016.10:g.1655973C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1332959238	p.Thr407Ile	missense variant	-	NC_000016.10:g.1655977C>T	gnomAD
rs1335926020	p.Pro408Ser	missense variant	-	NC_000016.10:g.1655979C>T	gnomAD
rs186357261	p.Pro408Leu	missense variant	-	NC_000016.10:g.1655980C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1233878814	p.Pro410Leu	missense variant	-	NC_000016.10:g.1655986C>T	gnomAD
rs1357815342	p.Pro410Ser	missense variant	-	NC_000016.10:g.1655985C>T	gnomAD
rs1233878814	p.Pro410Gln	missense variant	-	NC_000016.10:g.1655986C>A	gnomAD
rs867773792	p.Gly411Asp	missense variant	-	NC_000016.10:g.1655989G>A	gnomAD
rs751080703	p.Val412Met	missense variant	-	NC_000016.10:g.1655991G>A	ExAC,TOPMed,gnomAD
rs757019044	p.Arg414Cys	missense variant	-	NC_000016.10:g.1655997C>T	ExAC,gnomAD
rs1366834613	p.Val415Met	missense variant	-	NC_000016.10:g.1656000G>A	gnomAD
rs1473802660	p.His417Gln	missense variant	-	NC_000016.10:g.1656008C>A	gnomAD
rs754322290	p.Ser418Cys	missense variant	-	NC_000016.10:g.1656010C>G	ExAC,TOPMed,gnomAD
rs1423456402	p.Lys419Glu	missense variant	-	NC_000016.10:g.1656012A>G	gnomAD
rs1464407919	p.Phe421Val	missense variant	-	NC_000016.10:g.1656018T>G	gnomAD
rs973250261	p.Phe421Ser	missense variant	-	NC_000016.10:g.1656019T>C	TOPMed,gnomAD
rs779282014	p.Thr423Arg	missense variant	-	NC_000016.10:g.1656025C>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr423Ala	missense variant	-	NC_000016.10:g.1656024A>G	NCI-TCGA
rs371073011	p.Val424Leu	missense variant	-	NC_000016.10:g.1656027G>T	ESP
NCI-TCGA novel	p.Trp426Ter	stop gained	-	NC_000016.10:g.1656035G>A	NCI-TCGA
rs1207627052	p.Gln427Ter	stop gained	-	NC_000016.10:g.1656036C>T	TOPMed
rs982865190	p.Glu428Gly	missense variant	-	NC_000016.10:g.1656040A>G	TOPMed
rs772594351	p.Gly430Ser	missense variant	-	NC_000016.10:g.1656045G>A	ExAC,gnomAD
rs747072572	p.Arg431Trp	missense variant	-	NC_000016.10:g.1656048C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg431Leu	missense variant	-	NC_000016.10:g.1656049G>T	NCI-TCGA
NCI-TCGA novel	p.Arg431ProPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.1656046_1656047insC	NCI-TCGA
rs1220374514	p.Ser435Gly	missense variant	-	NC_000016.10:g.1656060A>G	gnomAD
rs960159131	p.Ala436Val	missense variant	-	NC_000016.10:g.1656064C>T	gnomAD
rs960159131	p.Ala436Asp	missense variant	-	NC_000016.10:g.1656064C>A	gnomAD
NCI-TCGA novel	p.Lys437Asn	missense variant	-	NC_000016.10:g.1656068G>T	NCI-TCGA
rs759692870	p.Ala439Thr	missense variant	-	NC_000016.10:g.1656072G>A	ExAC,TOPMed,gnomAD
rs759692870	p.Ala439Ser	missense variant	-	NC_000016.10:g.1656072G>T	ExAC,TOPMed,gnomAD
rs571857474	p.Val441Met	missense variant	-	NC_000016.10:g.1656078G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs571857474	p.Val441Leu	missense variant	-	NC_000016.10:g.1656078G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs534427089	p.Pro444Ser	missense variant	-	NC_000016.10:g.1656087C>T	1000Genomes,ExAC,gnomAD
rs773972940	p.Ala445Gly	missense variant	-	NC_000016.10:g.1656091C>G	TOPMed,gnomAD
COSM6143370	p.Ala445Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1656091C>T	NCI-TCGA Cosmic
rs1173423082	p.Ala445Thr	missense variant	-	NC_000016.10:g.1656090G>A	gnomAD
rs1465814507	p.Gln446His	missense variant	-	NC_000016.10:g.1656095G>T	gnomAD
rs1403816425	p.Ile447Met	missense variant	-	NC_000016.10:g.1656098C>G	gnomAD
rs750113429	p.Ile447Val	missense variant	-	NC_000016.10:g.1656096A>G	ExAC,gnomAD
rs1434812798	p.Gly449Asp	missense variant	-	NC_000016.10:g.1656103G>A	gnomAD
rs1434812798	p.Gly449Val	missense variant	-	NC_000016.10:g.1656103G>T	gnomAD
rs755744988	p.Ile450Met	missense variant	-	NC_000016.10:g.1656107C>G	ExAC,gnomAD
rs1337766937	p.Gln451Leu	missense variant	-	NC_000016.10:g.1656109A>T	gnomAD
rs1337766937	p.Gln451Arg	missense variant	-	NC_000016.10:g.1656109A>G	gnomAD
rs1376866964	p.Gly455Ala	missense variant	-	NC_000016.10:g.1656121G>C	TOPMed
rs553081131	p.Thr456Met	missense variant	-	NC_000016.10:g.1656124C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1350400126	p.Arg458Gln	missense variant	-	NC_000016.10:g.1656130G>A	gnomAD
rs747446342	p.Arg458Trp	missense variant	-	NC_000016.10:g.1656129C>T	ExAC,TOPMed,gnomAD
rs1211869672	p.Gly459Asp	missense variant	-	NC_000016.10:g.1656133G>A	gnomAD
rs1487337214	p.Gln460His	missense variant	-	NC_000016.10:g.1656137G>T	gnomAD
rs1043227466	p.Val461Met	missense variant	-	NC_000016.10:g.1656138G>A	TOPMed,gnomAD
rs757338395	p.Pro464Leu	missense variant	-	NC_000016.10:g.1656148C>T	ExAC,TOPMed,gnomAD
rs746105462	p.Arg465Gln	missense variant	-	NC_000016.10:g.1656151G>A	ExAC,TOPMed,gnomAD
rs767330217	p.Arg465Trp	missense variant	-	NC_000016.10:g.1656150C>T	TOPMed,gnomAD
rs375137924	p.Gly467Arg	missense variant	-	NC_000016.10:g.1656156G>C	ESP,ExAC,TOPMed,gnomAD
rs375137924	p.Gly467Arg	missense variant	-	NC_000016.10:g.1656156G>A	ESP,ExAC,TOPMed,gnomAD
rs749096686	p.Ala468Gly	missense variant	-	NC_000016.10:g.1656160C>G	ExAC,TOPMed,gnomAD
rs1420929399	p.Ala468Thr	missense variant	-	NC_000016.10:g.1656159G>A	gnomAD
rs1352921873	p.Glu469Gly	missense variant	-	NC_000016.10:g.1656163A>G	gnomAD
rs1389838559	p.Gly470Asp	missense variant	-	NC_000016.10:g.1656166G>A	gnomAD
rs370408080	p.Gly472Val	missense variant	-	NC_000016.10:g.1656172G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772810276	p.Arg475Trp	missense variant	-	NC_000016.10:g.1656180C>T	ExAC,TOPMed,gnomAD
rs1261839673	p.Arg475Gln	missense variant	-	NC_000016.10:g.1656181G>A	gnomAD
rs368960482	p.Pro476Leu	missense variant	-	NC_000016.10:g.1656184C>T	ESP
rs374812511	p.Pro476Thr	missense variant	-	NC_000016.10:g.1656183C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374812511	p.Pro476Ser	missense variant	-	NC_000016.10:g.1656183C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1436409347	p.Pro477Leu	missense variant	-	NC_000016.10:g.1656187C>T	TOPMed
rs1436409347	p.Pro477Arg	missense variant	-	NC_000016.10:g.1656187C>G	TOPMed
rs557671601	p.Pro477Ala	missense variant	-	NC_000016.10:g.1656186C>G	1000Genomes
NCI-TCGA novel	p.Pro478SerPheSerTerUnk	frameshift	-	NC_000016.10:g.1656182_1656183insC	NCI-TCGA
rs372160619	p.Ala479Val	missense variant	-	NC_000016.10:g.1656193C>T	ESP,ExAC,TOPMed,gnomAD
rs1159273751	p.Ala480Gly	missense variant	-	NC_000016.10:g.1656196C>G	gnomAD
rs899689704	p.Ala480Ser	missense variant	-	NC_000016.10:g.1656195G>T	gnomAD
rs150033460	p.Ala482Thr	missense variant	-	NC_000016.10:g.1656201G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1394971470	p.Ala482Gly	missense variant	-	NC_000016.10:g.1656202C>G	gnomAD
rs757719069	p.Leu483Phe	missense variant	-	NC_000016.10:g.1656206G>C	ExAC,gnomAD
rs781286981	p.Gln484Pro	missense variant	-	NC_000016.10:g.1656208A>C	ExAC,TOPMed,gnomAD
rs745937828	p.Gln484His	missense variant	-	NC_000016.10:g.1656209G>C	ExAC,gnomAD
rs756347466	p.Ser486Phe	missense variant	-	NC_000016.10:g.1656214C>T	ExAC,TOPMed,gnomAD
rs756347466	p.Ser486Cys	missense variant	-	NC_000016.10:g.1656214C>G	ExAC,TOPMed,gnomAD
rs1243312947	p.Gly487Val	missense variant	-	NC_000016.10:g.1656217G>T	gnomAD
rs1035368808	p.Gly487Arg	missense variant	-	NC_000016.10:g.1656216G>A	TOPMed
COSM3506477	p.Ser490Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1656226C>T	NCI-TCGA Cosmic
rs749402671	p.Pro491Thr	missense variant	-	NC_000016.10:g.1656228C>A	ExAC,TOPMed,gnomAD
rs748130394	p.Glu492Lys	missense variant	-	NC_000016.10:g.1656231G>A	ExAC,gnomAD
rs772650332	p.Ala494Thr	missense variant	-	NC_000016.10:g.1656237G>A	ExAC,gnomAD
rs373720836	p.Pro495Leu	missense variant	-	NC_000016.10:g.1656241C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs373720836	p.Pro495His	missense variant	-	NC_000016.10:g.1656241C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs759058105	p.Gly496Arg	missense variant	-	NC_000016.10:g.1656243G>A	ExAC,gnomAD
rs145412892	p.Gly496Ala	missense variant	-	NC_000016.10:g.1656244G>C	1000Genomes,TOPMed,gnomAD
rs1168347935	p.Glu497Gln	missense variant	-	NC_000016.10:g.1656246G>C	gnomAD
rs1417521762	p.Glu497Gly	missense variant	-	NC_000016.10:g.1656247A>G	gnomAD
NCI-TCGA novel	p.Glu497ArgPheSerTerUnk	frameshift	-	NC_000016.10:g.1656238C>-	NCI-TCGA
rs1430152773	p.Gly498Val	missense variant	-	NC_000016.10:g.1656250G>T	TOPMed
rs1402191175	p.Gly498Arg	missense variant	-	NC_000016.10:g.1656249G>A	TOPMed,gnomAD
rs1444685898	p.Ala499Pro	missense variant	-	NC_000016.10:g.1656252G>C	gnomAD
rs1298937487	p.Ala499Val	missense variant	-	NC_000016.10:g.1656253C>T	gnomAD
rs751887008	p.Ala500Ser	missense variant	-	NC_000016.10:g.1656255G>T	ExAC,gnomAD
rs751887008	p.Ala500Thr	missense variant	-	NC_000016.10:g.1656255G>A	ExAC,gnomAD
rs1394319006	p.Ala500Val	missense variant	-	NC_000016.10:g.1656256C>T	gnomAD
rs1295658944	p.Ser502Thr	missense variant	-	NC_000016.10:g.1656262G>C	gnomAD
COSM1646742	p.Leu503Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1656266G>C	NCI-TCGA Cosmic
rs372185664	p.Ser505Gly	missense variant	-	NC_000016.10:g.1656270A>G	ESP,ExAC,gnomAD
rs200270407	p.Pro506Leu	missense variant	-	NC_000016.10:g.1656274C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs754112928	p.Ala508Thr	missense variant	-	NC_000016.10:g.1656279G>A	ExAC,TOPMed,gnomAD
rs754637328	p.Ala508Asp	missense variant	-	NC_000016.10:g.1656280C>A	ExAC,TOPMed,gnomAD
rs1471862230	p.Pro509Leu	missense variant	-	NC_000016.10:g.1656283C>T	TOPMed
rs778893305	p.Arg511Gly	missense variant	-	NC_000016.10:g.1656288A>G	ExAC,gnomAD
rs1257590092	p.Arg511Ser	missense variant	-	NC_000016.10:g.1656290G>T	gnomAD
rs903117300	p.Pro513Leu	missense variant	-	NC_000016.10:g.1656295C>T	gnomAD
rs562736193	p.Pro513Ser	missense variant	-	NC_000016.10:g.1656294C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1439886053	p.Pro514Ser	missense variant	-	NC_000016.10:g.1656297C>T	TOPMed
rs777765671	p.Arg515Ser	missense variant	-	NC_000016.10:g.1656302G>C	ExAC,TOPMed,gnomAD
rs746858691	p.His516Gln	missense variant	-	NC_000016.10:g.1656305C>G	ExAC,gnomAD
rs770493494	p.Gln517His	missense variant	-	NC_000016.10:g.1656308G>T	ExAC,gnomAD
rs1358727822	p.Gln517Arg	missense variant	-	NC_000016.10:g.1656307A>G	gnomAD
NCI-TCGA novel	p.Asp518GluPheSerTerUnkUnk	frameshift	-	NC_000016.10:g.1656311C>-	NCI-TCGA
rs775959380	p.Thr519Ala	missense variant	-	NC_000016.10:g.1656312A>G	ExAC,TOPMed,gnomAD
rs1356140035	p.Gly520Glu	missense variant	-	NC_000016.10:g.1656316G>A	gnomAD
rs759224794	p.Pro521Ser	missense variant	-	NC_000016.10:g.1656318C>T	ExAC,gnomAD
rs1364566361	p.Thr526Ile	missense variant	-	NC_000016.10:g.1656334C>T	TOPMed,gnomAD
rs769410929	p.Thr526Ala	missense variant	-	NC_000016.10:g.1656333A>G	ExAC,gnomAD
rs774753825	p.Pro527Ser	missense variant	-	NC_000016.10:g.1656336C>T	ExAC,TOPMed,gnomAD
rs1236741727	p.Ala528Val	missense variant	-	NC_000016.10:g.1656340C>T	gnomAD
COSM332672	p.Glu529Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1656342G>A	NCI-TCGA Cosmic
rs767706760	p.Gly530Ser	missense variant	-	NC_000016.10:g.1656345G>A	ExAC
rs750952543	p.Arg531Gly	missense variant	-	NC_000016.10:g.1656348A>G	ExAC,TOPMed,gnomAD
rs761038864	p.Arg531Lys	missense variant	-	NC_000016.10:g.1656349G>A	ExAC,gnomAD
rs1056706414	p.Asp532Tyr	missense variant	-	NC_000016.10:g.1656351G>T	gnomAD
rs1056706414	p.Asp532His	missense variant	-	NC_000016.10:g.1656351G>C	gnomAD
rs1214388794	p.Asp532Gly	missense variant	-	NC_000016.10:g.1656352A>G	TOPMed,gnomAD
rs371446549	p.Arg536Gln	missense variant	-	NC_000016.10:g.1656364G>A	ESP,ExAC,TOPMed,gnomAD
rs183769316	p.Arg536Trp	missense variant	-	NC_000016.10:g.1656363C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs371446549	p.Arg536Pro	missense variant	-	NC_000016.10:g.1656364G>C	ESP,ExAC,TOPMed,gnomAD
rs552084892	p.Glu537Lys	missense variant	-	NC_000016.10:g.1656366G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs374738088	p.Pro538Leu	missense variant	-	NC_000016.10:g.1656370C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370114636	p.Gly539Val	missense variant	-	NC_000016.10:g.1656373G>T	1000Genomes,ESP,ExAC,gnomAD
rs370114636	p.Gly539Ala	missense variant	-	NC_000016.10:g.1656373G>C	1000Genomes,ESP,ExAC,gnomAD
rs373328340	p.Ala540Ser	missense variant	-	NC_000016.10:g.1656375G>T	ESP,ExAC,TOPMed,gnomAD
rs373328340	p.Ala540Thr	missense variant	-	NC_000016.10:g.1656375G>A	ESP,ExAC,TOPMed,gnomAD
rs199732432	p.Pro542Leu	missense variant	-	NC_000016.10:g.1656382C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1347404329	p.Pro542Ala	missense variant	-	NC_000016.10:g.1656381C>G	gnomAD
rs1365888077	p.Cys543Ser	missense variant	-	NC_000016.10:g.1656384T>A	gnomAD
rs995022425	p.Ala544Val	missense variant	-	NC_000016.10:g.1656388C>T	TOPMed,gnomAD
rs1206981167	p.Cys545Gly	missense variant	-	NC_000016.10:g.1656390T>G	TOPMed
rs752981865	p.Leu548Phe	missense variant	-	NC_000016.10:g.1656399C>T	TOPMed,gnomAD
rs752981865	p.Leu548Val	missense variant	-	NC_000016.10:g.1656399C>G	TOPMed,gnomAD
rs773410575	p.Pro549Arg	missense variant	-	NC_000016.10:g.1656403C>G	ExAC,gnomAD
rs772508584	p.Pro549Ser	missense variant	-	NC_000016.10:g.1656402C>T	ExAC,gnomAD
rs773410575	p.Pro549Leu	missense variant	-	NC_000016.10:g.1656403C>T	ExAC,gnomAD
rs377597921	p.Asp550His	missense variant	-	NC_000016.10:g.1656405G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1469612291	p.Asp553Gly	missense variant	-	NC_000016.10:g.1656415A>G	gnomAD
rs1244816771	p.Asp553Asn	missense variant	-	NC_000016.10:g.1656414G>A	gnomAD
rs776911598	p.Glu554Lys	missense variant	-	NC_000016.10:g.1656417G>A	ExAC,TOPMed,gnomAD
rs950653296	p.Leu555Phe	missense variant	-	NC_000016.10:g.1656420C>T	TOPMed,gnomAD
rs1399209231	p.Leu555Pro	missense variant	-	NC_000016.10:g.1656421T>C	gnomAD
rs537483186	p.Ser556Leu	missense variant	-	NC_000016.10:g.1656424C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs758649118	p.Leu558Pro	missense variant	-	NC_000016.10:g.1656430T>C	ExAC,TOPMed,gnomAD
rs374501457	p.Pro560Ala	missense variant	-	NC_000016.10:g.1656435C>G	ESP,gnomAD
rs374501457	p.Pro560Ser	missense variant	-	NC_000016.10:g.1656435C>T	ESP,gnomAD
rs751286575	p.Leu561Phe	missense variant	-	NC_000016.10:g.1656440G>T	ExAC,gnomAD
rs1375619428	p.Leu561Met	missense variant	-	NC_000016.10:g.1656438T>A	gnomAD
rs757274453	p.Pro562Ala	missense variant	-	NC_000016.10:g.1656441C>G	ExAC,TOPMed,gnomAD
rs757274453	p.Pro562Ser	missense variant	-	NC_000016.10:g.1656441C>T	ExAC,TOPMed,gnomAD
rs755634011	p.Arg563His	missense variant	-	NC_000016.10:g.1656445G>A	ExAC,TOPMed,gnomAD
rs577488354	p.Arg563Cys	missense variant	-	NC_000016.10:g.1656444C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs577488354	p.Arg563Gly	missense variant	-	NC_000016.10:g.1656444C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1336683765	p.Tyr564Cys	missense variant	-	NC_000016.10:g.1656448A>G	TOPMed,gnomAD
rs779490530	p.Lys566Asn	missense variant	-	NC_000016.10:g.1656455G>C	ExAC,gnomAD
rs1237328124	p.Cys568Ser	missense variant	-	NC_000016.10:g.1656460G>C	gnomAD
NCI-TCGA novel	p.Gln569Glu	missense variant	-	NC_000016.10:g.1656462C>G	NCI-TCGA
rs1248685034	p.Asp570Asn	missense variant	-	NC_000016.10:g.1656465G>A	TOPMed
rs1179886531	p.Leu571Val	missense variant	-	NC_000016.10:g.1656468C>G	gnomAD
rs1216422800	p.Ile572Val	missense variant	-	NC_000016.10:g.1656471A>G	TOPMed
rs1470524868	p.Pro574Arg	missense variant	-	NC_000016.10:g.1656478C>G	gnomAD
rs1233227165	p.Pro574Thr	missense variant	-	NC_000016.10:g.1656477C>A	gnomAD
rs1416243813	p.Glu575Lys	missense variant	-	NC_000016.10:g.1656480G>A	gnomAD
rs1416243813	p.Glu575Gln	missense variant	-	NC_000016.10:g.1656480G>C	gnomAD
rs553638328	p.Glu575Val	missense variant	-	NC_000016.10:g.1656481A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs978777791	p.Gln576Arg	missense variant	-	NC_000016.10:g.1656484A>G	TOPMed,gnomAD
rs773676967	p.Gln576His	missense variant	-	NC_000016.10:g.1656485G>C	ExAC,gnomAD
rs1272278815	p.Cys577Arg	missense variant	-	NC_000016.10:g.1656486T>C	gnomAD
rs1330418090	p.Arg578Ser	missense variant	-	NC_000016.10:g.1656489C>A	TOPMed,gnomAD
rs747324517	p.Arg578His	missense variant	-	NC_000016.10:g.1656490G>A	ExAC,TOPMed,gnomAD
rs1330418090	p.Arg578Cys	missense variant	-	NC_000016.10:g.1656489C>T	TOPMed,gnomAD
rs1446567699	p.Cys579Ser	missense variant	-	NC_000016.10:g.1656492T>A	gnomAD
rs573825535	p.Cys579Tyr	missense variant	-	NC_000016.10:g.1656493G>A	1000Genomes,ExAC,gnomAD
rs542745050	p.Ala580Val	missense variant	-	NC_000016.10:g.1656496C>T	1000Genomes,ExAC,gnomAD
rs1257234848	p.Asp581Asn	missense variant	-	NC_000016.10:g.1656498G>A	TOPMed,gnomAD
rs760066089	p.Thr582Ala	missense variant	-	NC_000016.10:g.1656501A>G	ExAC,TOPMed,gnomAD
rs765434904	p.Arg583Gln	missense variant	-	NC_000016.10:g.1656505G>A	ExAC,TOPMed,gnomAD
rs1194315710	p.Arg583Trp	missense variant	-	NC_000016.10:g.1656504C>T	gnomAD
rs934929492	p.Gly585Arg	missense variant	-	NC_000016.10:g.1656510G>A	TOPMed
rs563031777	p.Ser586Arg	missense variant	-	NC_000016.10:g.1656515C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs763282564	p.Glu587Lys	missense variant	-	NC_000016.10:g.1656516G>A	ExAC,gnomAD
rs948415333	p.Gln588His	missense variant	-	NC_000016.10:g.1656521G>C	gnomAD
COSM967610	p.Gln588Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1656520A>G	NCI-TCGA Cosmic
rs1189228382	p.Pro590Ser	missense variant	-	NC_000016.10:g.1656525C>T	gnomAD
rs751435469	p.Pro590His	missense variant	-	NC_000016.10:g.1656526C>A	ExAC,TOPMed,gnomAD
rs751435469	p.Pro590Leu	missense variant	-	NC_000016.10:g.1656526C>T	ExAC,TOPMed,gnomAD
rs767241110	p.Leu591Val	missense variant	-	NC_000016.10:g.1656528C>G	ExAC,gnomAD
rs1396703874	p.Gly592Asp	missense variant	-	NC_000016.10:g.1656532G>A	gnomAD
rs1188423406	p.Gly592Ser	missense variant	-	NC_000016.10:g.1656531G>A	TOPMed
rs756006420	p.Gly593Arg	missense variant	-	NC_000016.10:g.1656534G>A	ExAC,TOPMed,gnomAD
rs779580535	p.Ala594Val	missense variant	-	NC_000016.10:g.1656538C>T	ExAC,TOPMed,gnomAD
rs1356783080	p.Ala594Pro	missense variant	-	NC_000016.10:g.1656537G>C	gnomAD
rs1324497582	p.Ala595Thr	missense variant	-	NC_000016.10:g.1656540G>A	gnomAD
rs545390375	p.Ser596Phe	missense variant	-	NC_000016.10:g.1656544C>T	1000Genomes
rs1341092217	p.Pro597Ser	missense variant	-	NC_000016.10:g.1656546C>T	TOPMed
rs1272158136	p.Pro597Leu	missense variant	-	NC_000016.10:g.1656547C>T	gnomAD
rs1278331183	p.Val599Leu	missense variant	-	NC_000016.10:g.1656552G>T	gnomAD
rs778428297	p.Val599Ala	missense variant	-	NC_000016.10:g.1656553T>C	ExAC,gnomAD
rs368181087	p.Pro602Ser	missense variant	-	NC_000016.10:g.1656561C>T	ESP,ExAC,TOPMed,gnomAD
rs777091430	p.Val603Ile	missense variant	-	NC_000016.10:g.1656564G>A	ExAC,gnomAD
rs777091430	p.Val603Leu	missense variant	-	NC_000016.10:g.1656564G>C	ExAC,gnomAD
rs1171341136	p.Ser604Asn	missense variant	-	NC_000016.10:g.1656568G>A	gnomAD
rs374772176	p.Ser604Gly	missense variant	-	NC_000016.10:g.1656567A>G	ESP,TOPMed,gnomAD
rs145013663	p.Glu606Lys	missense variant	-	NC_000016.10:g.1656573G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762935745	p.Ala608Val	missense variant	-	NC_000016.10:g.1656580C>T	ExAC,gnomAD
rs774449066	p.Asp609His	missense variant	-	NC_000016.10:g.1656582G>C	ExAC,gnomAD
rs965032988	p.Leu610Phe	missense variant	-	NC_000016.10:g.1656585C>T	gnomAD
rs762046057	p.Ala611Val	missense variant	-	NC_000016.10:g.1656589C>T	ExAC,TOPMed,gnomAD
rs527950415	p.Pro612Ala	missense variant	-	NC_000016.10:g.1656591C>G	1000Genomes,ExAC,gnomAD
rs527950415	p.Pro612Ser	missense variant	-	NC_000016.10:g.1656591C>T	1000Genomes,ExAC,gnomAD
rs371731624	p.Thr613Ala	missense variant	-	NC_000016.10:g.1656594A>G	ESP,ExAC,TOPMed,gnomAD
rs548075473	p.Gly614Asp	missense variant	-	NC_000016.10:g.1656598G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs753456827	p.Pro617Leu	missense variant	-	NC_000016.10:g.1656607C>T	ExAC,gnomAD
rs753456827	p.Pro617Arg	missense variant	-	NC_000016.10:g.1656607C>G	ExAC,gnomAD
rs1012089202	p.Pro617Ala	missense variant	-	NC_000016.10:g.1656606C>G	TOPMed,gnomAD
rs1191391969	p.Gly620Asp	missense variant	-	NC_000016.10:g.1656616G>A	gnomAD
rs758033308	p.Gly620Ser	missense variant	-	NC_000016.10:g.1656615G>A	ExAC,TOPMed,gnomAD
rs781721413	p.Pro621Ser	missense variant	-	NC_000016.10:g.1656618C>T	ExAC,TOPMed,gnomAD
rs781721413	p.Pro621Ala	missense variant	-	NC_000016.10:g.1656618C>G	ExAC,TOPMed,gnomAD
rs1157584038	p.Gly622Arg	missense variant	-	NC_000016.10:g.1656621G>A	TOPMed,gnomAD
rs992663171	p.Leu623Phe	missense variant	-	NC_000016.10:g.1656624C>T	gnomAD
rs1289352640	p.Leu624Met	missense variant	-	NC_000016.10:g.1656627C>A	gnomAD
rs1447871763	p.Cys628Phe	missense variant	-	NC_000016.10:g.1656640G>T	gnomAD
rs1447871763	p.Cys628Tyr	missense variant	-	NC_000016.10:g.1656640G>A	gnomAD
rs780708550	p.Thr629Pro	missense variant	-	NC_000016.10:g.1656642A>C	ExAC,gnomAD
rs747147815	p.Thr629Ser	missense variant	-	NC_000016.10:g.1656643C>G	ExAC,gnomAD
rs1441911598	p.Asp631Val	missense variant	-	NC_000016.10:g.1656649A>T	gnomAD
rs1373538969	p.Asp631His	missense variant	-	NC_000016.10:g.1656648G>C	TOPMed,gnomAD
rs191084422	p.Ala633Gly	missense variant	-	NC_000016.10:g.1656655C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs191084422	p.Ala633Val	missense variant	-	NC_000016.10:g.1656655C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1261788272	p.Asp634Asn	missense variant	-	NC_000016.10:g.1656657G>A	gnomAD
rs1261788272	p.Asp634His	missense variant	-	NC_000016.10:g.1656657G>C	gnomAD
rs920280760	p.Ala637Val	missense variant	-	NC_000016.10:g.1656667C>T	TOPMed,gnomAD
rs920280760	p.Ala637Glu	missense variant	-	NC_000016.10:g.1656667C>A	TOPMed,gnomAD
rs766097615	p.Glu638Lys	missense variant	-	NC_000016.10:g.1656669G>A	ExAC,gnomAD
rs1420300734	p.Gly644Arg	missense variant	-	NC_000016.10:g.1656687G>A	TOPMed,gnomAD
rs764688261	p.Pro646Arg	missense variant	-	NC_000016.10:g.1656694C>G	ExAC,TOPMed,gnomAD
rs764688261	p.Pro646His	missense variant	-	NC_000016.10:g.1656694C>A	ExAC,TOPMed,gnomAD
rs758179352	p.Ala647Thr	missense variant	-	NC_000016.10:g.1656696G>A	ExAC,TOPMed,gnomAD
rs777559860	p.Ala647Val	missense variant	-	NC_000016.10:g.1656697C>T	ExAC,TOPMed,gnomAD
rs1297777209	p.Gly648Arg	missense variant	-	NC_000016.10:g.1656699G>A	TOPMed,gnomAD
rs756559071	p.Pro649Leu	missense variant	-	NC_000016.10:g.1656703C>T	ExAC,TOPMed,gnomAD
rs780415279	p.Pro650Leu	missense variant	-	NC_000016.10:g.1656706C>T	ExAC,TOPMed,gnomAD
rs1264484695	p.Pro650Thr	missense variant	-	NC_000016.10:g.1656705C>A	TOPMed
rs537572177	p.Pro651Leu	missense variant	-	NC_000016.10:g.1656709C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1335880575	p.Ser652Cys	missense variant	-	NC_000016.10:g.1656712C>G	gnomAD
rs1335880575	p.Ser652Phe	missense variant	-	NC_000016.10:g.1656712C>T	gnomAD
rs1320586522	p.Gln653His	missense variant	-	NC_000016.10:g.1656716G>C	TOPMed,gnomAD
rs1481337275	p.Gly654Glu	missense variant	-	NC_000016.10:g.1656718G>A	TOPMed,gnomAD
rs1249217826	p.Gly654Arg	missense variant	-	NC_000016.10:g.1656717G>A	gnomAD
rs1481337275	p.Gly654Ala	missense variant	-	NC_000016.10:g.1656718G>C	TOPMed,gnomAD
rs1177339443	p.Ala657Gly	missense variant	-	NC_000016.10:g.1656727C>G	TOPMed,gnomAD
rs1177339443	p.Ala657Val	missense variant	-	NC_000016.10:g.1656727C>T	TOPMed,gnomAD
rs1177339443	p.Ala657Asp	missense variant	-	NC_000016.10:g.1656727C>A	TOPMed,gnomAD
rs570912665	p.Ala658Thr	missense variant	-	NC_000016.10:g.1656729G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1170017010	p.Arg659Ser	missense variant	-	NC_000016.10:g.1656734G>T	TOPMed,gnomAD
rs1418341007	p.Arg659Gly	missense variant	-	NC_000016.10:g.1656732A>G	gnomAD
rs1409117106	p.Arg659Lys	missense variant	-	NC_000016.10:g.1656733G>A	gnomAD
rs1352918863	p.Pro660Ala	missense variant	-	NC_000016.10:g.1656735C>G	TOPMed,gnomAD
rs1352918863	p.Pro660Ser	missense variant	-	NC_000016.10:g.1656735C>T	TOPMed,gnomAD
rs1463707076	p.Pro660Leu	missense variant	-	NC_000016.10:g.1656736C>T	TOPMed,gnomAD
rs1463707076	p.Pro660His	missense variant	-	NC_000016.10:g.1656736C>A	TOPMed,gnomAD
rs533832759	p.Pro661Leu	missense variant	-	NC_000016.10:g.1656739C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs533832759	p.Pro661Arg	missense variant	-	NC_000016.10:g.1656739C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1193821403	p.Glu663Gly	missense variant	-	NC_000016.10:g.1656745A>G	TOPMed
rs1044934815	p.Val664Ile	missense variant	-	NC_000016.10:g.1656747G>A	TOPMed
rs368418963	p.Pro665Ser	missense variant	-	NC_000016.10:g.1656750C>T	ExAC,TOPMed,gnomAD
rs759207917	p.Ala666Asp	missense variant	-	NC_000016.10:g.1656754C>A	ExAC,gnomAD
rs776666101	p.Ala666Thr	missense variant	-	NC_000016.10:g.1656753G>A	ExAC,TOPMed,gnomAD
rs1262984827	p.Ser667Gly	missense variant	-	NC_000016.10:g.1656756A>G	TOPMed
rs1262984827	p.Ser667Arg	missense variant	-	NC_000016.10:g.1656756A>C	TOPMed
rs146776711	p.Arg668Gln	missense variant	-	NC_000016.10:g.1656760G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs146776711	p.Arg668Leu	missense variant	-	NC_000016.10:g.1656760G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774942675	p.Arg668Trp	missense variant	-	NC_000016.10:g.1656759C>T	ExAC,gnomAD
rs1304457232	p.Leu669Pro	missense variant	-	NC_000016.10:g.1656763T>C	TOPMed
rs1484378205	p.Leu669Met	missense variant	-	NC_000016.10:g.1656762C>A	gnomAD
rs1212978869	p.Ala670Gly	missense variant	-	NC_000016.10:g.1656766C>G	TOPMed,gnomAD
rs1257519449	p.Leu673Phe	missense variant	-	NC_000016.10:g.1656774C>T	gnomAD
rs1363150861	p.Leu673Pro	missense variant	-	NC_000016.10:g.1656775T>C	TOPMed
rs757340231	p.Arg674Leu	missense variant	-	NC_000016.10:g.1656778G>T	TOPMed,gnomAD
rs757340231	p.Arg674His	missense variant	-	NC_000016.10:g.1656778G>A	TOPMed,gnomAD
rs969980024	p.Arg674Cys	missense variant	-	NC_000016.10:g.1656777C>T	TOPMed,gnomAD
rs1421381135	p.Glu675Lys	missense variant	-	NC_000016.10:g.1656780G>A	gnomAD
rs1394182390	p.Glu676Asp	missense variant	-	NC_000016.10:g.1656785G>C	TOPMed
rs763900352	p.Glu676Gly	missense variant	-	NC_000016.10:g.1656784A>G	ExAC,TOPMed,gnomAD
rs1430556494	p.Glu676Lys	missense variant	-	NC_000016.10:g.1656783G>A	TOPMed,gnomAD
rs1394579767	p.Gly677Asp	missense variant	-	NC_000016.10:g.1656787G>A	gnomAD
rs1432898476	p.Trp678Cys	missense variant	-	NC_000016.10:g.1656791G>C	gnomAD
rs1432898476	p.Trp678Cys	missense variant	-	NC_000016.10:g.1656791G>T	gnomAD
rs1019589676	p.Leu680Val	missense variant	-	NC_000016.10:g.1656795C>G	TOPMed
rs1376658973	p.Glu684Lys	missense variant	-	NC_000016.10:g.1656807G>A	TOPMed,gnomAD
rs1345130398	p.Met694Thr	missense variant	-	NC_000016.10:g.1656838T>C	gnomAD
rs1358375030	p.Leu701Met	missense variant	-	NC_000016.10:g.1656858C>A	gnomAD
rs755238832	p.Gln702Lys	missense variant	-	NC_000016.10:g.1656861C>A	ExAC,TOPMed,gnomAD
rs1280398652	p.Glu704Asp	missense variant	-	NC_000016.10:g.1656869G>T	gnomAD
rs1228325723	p.Glu704Gln	missense variant	-	NC_000016.10:g.1656867G>C	TOPMed
rs748577178	p.Gly709Arg	missense variant	-	NC_000016.10:g.1656882G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly709Val	missense variant	-	NC_000016.10:g.1656883G>T	NCI-TCGA
rs1243678608	p.Pro710Ser	missense variant	-	NC_000016.10:g.1656885C>T	gnomAD
rs545529729	p.Gly711Ser	missense variant	-	NC_000016.10:g.1656888G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs903823727	p.Arg712His	missense variant	-	NC_000016.10:g.1656892G>A	TOPMed,gnomAD
rs565235725	p.Arg712Cys	missense variant	-	NC_000016.10:g.1656891C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs903823727	p.Arg712Leu	missense variant	-	NC_000016.10:g.1656892G>T	TOPMed,gnomAD
rs771069939	p.Arg716Cys	missense variant	-	NC_000016.10:g.1656903C>T	ExAC,TOPMed,gnomAD
rs372279645	p.Arg716Leu	missense variant	-	NC_000016.10:g.1656904G>T	gnomAD
NCI-TCGA novel	p.Arg716His	missense variant	-	NC_000016.10:g.1656904G>A	NCI-TCGA
rs745825658	p.Gly718Ser	missense variant	-	NC_000016.10:g.1656909G>A	ExAC,TOPMed,gnomAD
rs1436192641	p.Leu720Val	missense variant	-	NC_000016.10:g.1656915C>G	gnomAD
rs1335872676	p.Pro721His	missense variant	-	NC_000016.10:g.1656919C>A	TOPMed,gnomAD
rs1335872676	p.Pro721Arg	missense variant	-	NC_000016.10:g.1656919C>G	TOPMed,gnomAD
rs1324822848	p.Pro721Thr	missense variant	-	NC_000016.10:g.1656918C>A	TOPMed,gnomAD
rs1324822848	p.Pro721Ser	missense variant	-	NC_000016.10:g.1656918C>T	TOPMed,gnomAD
rs1368403011	p.Thr722Ile	missense variant	-	NC_000016.10:g.1656922C>T	gnomAD
rs775345230	p.Ala723Thr	missense variant	-	NC_000016.10:g.1656924G>A	ExAC,TOPMed,gnomAD
rs775345230	p.Ala723Ser	missense variant	-	NC_000016.10:g.1656924G>T	ExAC,TOPMed,gnomAD
rs1045299343	p.His725Pro	missense variant	-	NC_000016.10:g.1656931A>C	TOPMed,gnomAD
rs1272581900	p.His725Asp	missense variant	-	NC_000016.10:g.1656930C>G	TOPMed
rs903724382	p.His725Gln	missense variant	-	NC_000016.10:g.1656932C>A	TOPMed,gnomAD
rs774178478	p.Gln727His	missense variant	-	NC_000016.10:g.1656938G>T	ExAC,TOPMed,gnomAD
rs1250904876	p.Arg728His	missense variant	-	NC_000016.10:g.1656940G>A	TOPMed,gnomAD
rs541352163	p.Leu729Arg	missense variant	-	NC_000016.10:g.1656943T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs970311309	p.Ser731Asn	missense variant	-	NC_000016.10:g.1656949G>A	TOPMed,gnomAD
rs970311309	p.Ser731Thr	missense variant	-	NC_000016.10:g.1656949G>C	TOPMed,gnomAD
rs767068024	p.Leu733Phe	missense variant	-	NC_000016.10:g.1656954C>T	ExAC,gnomAD
rs920515248	p.Thr739Ala	missense variant	-	NC_000016.10:g.1656972A>G	TOPMed
rs755504106	p.Glu740Lys	missense variant	-	NC_000016.10:g.1656975G>A	ExAC,gnomAD
rs1164737281	p.Val741Ile	missense variant	-	NC_000016.10:g.1656978G>A	gnomAD
rs1178985337	p.Pro743Thr	missense variant	-	NC_000016.10:g.1656984C>A	gnomAD
rs753035998	p.Lys744Thr	missense variant	-	NC_000016.10:g.1656988A>C	ExAC,gnomAD
rs1431823838	p.Ala746Asp	missense variant	-	NC_000016.10:g.1659887C>A	TOPMed
rs780091307	p.Ala746Thr	missense variant	-	NC_000016.10:g.1659886G>A	ExAC,TOPMed,gnomAD
rs780091307	p.Ala746Pro	missense variant	-	NC_000016.10:g.1659886G>C	ExAC,TOPMed,gnomAD
rs749251381	p.Leu747Val	missense variant	-	NC_000016.10:g.1659889C>G	ExAC,TOPMed,gnomAD
rs1372860898	p.Ala749Gly	missense variant	-	NC_000016.10:g.1659896C>G	gnomAD
rs768499069	p.Thr751Ile	missense variant	-	NC_000016.10:g.1659902C>T	ExAC,gnomAD
rs1200595363	p.Ser753Thr	missense variant	-	NC_000016.10:g.1659907T>A	TOPMed
NCI-TCGA novel	p.Ser753Cys	missense variant	-	NC_000016.10:g.1659908C>G	NCI-TCGA
rs1021525675	p.Thr754Ile	missense variant	-	NC_000016.10:g.1659911C>T	TOPMed,gnomAD
rs1390287107	p.Thr754Ala	missense variant	-	NC_000016.10:g.1659910A>G	TOPMed,gnomAD
rs772777296	p.Arg758Ser	missense variant	-	NC_000016.10:g.1659924G>T	ExAC,gnomAD
rs369231610	p.Arg758Gly	missense variant	-	NC_000016.10:g.1659922A>G	ESP,ExAC,TOPMed,gnomAD
rs1261266997	p.Pro759Thr	missense variant	-	NC_000016.10:g.1659925C>A	TOPMed
rs1317423233	p.Pro759Arg	missense variant	-	NC_000016.10:g.1659926C>G	gnomAD
COSM1376149	p.Ala760Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1659928G>T	NCI-TCGA Cosmic
rs770447391	p.Ala760Thr	missense variant	-	NC_000016.10:g.1659928G>A	ExAC,TOPMed,gnomAD
rs1300041980	p.Gln761Lys	missense variant	-	NC_000016.10:g.1659931C>A	gnomAD
rs200608756	p.Glu762Lys	missense variant	-	NC_000016.10:g.1659934G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs763450496	p.Glu763Lys	missense variant	-	NC_000016.10:g.1659937G>A	ExAC,TOPMed,gnomAD
rs199878911	p.Ser765Leu	missense variant	-	NC_000016.10:g.1659944C>T	1000Genomes,ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Met766Val	missense variant	-	NC_000016.10:g.1659946A>G	NCI-TCGA
rs764647937	p.Thr767Ser	missense variant	-	NC_000016.10:g.1659949A>T	ExAC,gnomAD
rs1261501449	p.Thr767Met	missense variant	-	NC_000016.10:g.1659950C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro768Ser	missense variant	-	NC_000016.10:g.1659952C>T	NCI-TCGA
rs1248201747	p.Pro769Leu	missense variant	-	NC_000016.10:g.1659956C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Pro769GlnPheSerTerUnk	frameshift	-	NC_000016.10:g.1659952C>-	NCI-TCGA
rs1255062349	p.Gly770Val	missense variant	-	NC_000016.10:g.1659959G>T	gnomAD
COSM3672168	p.Lys771Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1659961A>G	NCI-TCGA Cosmic
rs756161025	p.Val773Ala	missense variant	-	NC_000016.10:g.1659968T>C	ExAC,gnomAD
rs754951039	p.Val775Ile	missense variant	-	NC_000016.10:g.1659973G>A	ExAC,TOPMed,gnomAD
rs1039708181	p.Ser776Ile	missense variant	-	NC_000016.10:g.1659977G>T	TOPMed
rs1192679325	p.Ser777Phe	missense variant	-	NC_000016.10:g.1659980C>T	TOPMed
rs1322820687	p.Arg778His	missense variant	-	NC_000016.10:g.1659983G>A	TOPMed,gnomAD
rs1383635649	p.Arg778Cys	missense variant	-	NC_000016.10:g.1659982C>T	TOPMed,gnomAD
rs747941119	p.Ser779Asn	missense variant	-	NC_000016.10:g.1659986G>A	ExAC,TOPMed,gnomAD
rs1366268249	p.Ser779Gly	missense variant	-	NC_000016.10:g.1659985A>G	gnomAD
rs1262372320	p.Pro780Ala	missense variant	-	NC_000016.10:g.1659988C>G	TOPMed
rs746650368	p.Arg781Cys	missense variant	-	NC_000016.10:g.1659991C>T	ExAC,gnomAD
rs770641600	p.Arg781His	missense variant	-	NC_000016.10:g.1659992G>A	ExAC,gnomAD
rs1349005336	p.Cys782Arg	missense variant	-	NC_000016.10:g.1659994T>C	TOPMed,gnomAD
rs536165085	p.Pro783His	missense variant	-	NC_000016.10:g.1659998C>A	1000Genomes,ExAC,gnomAD
rs374299928	p.Pro783Ser	missense variant	-	NC_000016.10:g.1659997C>T	ESP,ExAC,TOPMed,gnomAD
rs536165085	p.Pro783Leu	missense variant	-	NC_000016.10:g.1659998C>T	1000Genomes,ExAC,gnomAD
rs1464600819	p.Arg784Gln	missense variant	-	NC_000016.10:g.1660001G>A	TOPMed,gnomAD
rs762190804	p.Arg784Trp	missense variant	-	NC_000016.10:g.1660000C>T	ExAC,TOPMed,gnomAD
rs370505312	p.Gln786Arg	missense variant	-	NC_000016.10:g.1660007A>G	ESP,TOPMed
rs1433219826	p.Leu789Pro	missense variant	-	NC_000016.10:g.1660016T>C	TOPMed,gnomAD
rs773417565	p.Arg790Leu	missense variant	-	NC_000016.10:g.1660019G>T	ExAC,TOPMed,gnomAD
rs773417565	p.Arg790His	missense variant	-	NC_000016.10:g.1660019G>A	ExAC,TOPMed,gnomAD
rs1393732339	p.Arg790Cys	missense variant	-	NC_000016.10:g.1660018C>T	TOPMed
rs1455269528	p.Ser791Asn	missense variant	-	NC_000016.10:g.1660022G>A	gnomAD
rs202027042	p.Ser791Gly	missense variant	-	NC_000016.10:g.1660021A>G	1000Genomes,ExAC,gnomAD
rs766766057	p.Thr794Asn	missense variant	-	NC_000016.10:g.1660031C>A	ExAC,gnomAD
rs766766057	p.Thr794Ile	missense variant	-	NC_000016.10:g.1660031C>T	ExAC,gnomAD
rs915938562	p.Pro796Leu	missense variant	-	NC_000016.10:g.1660037C>T	TOPMed,gnomAD
rs112404892	p.Pro796Thr	missense variant	-	NC_000016.10:g.1660036C>A	ESP,ExAC,TOPMed,gnomAD
rs112404892	p.Pro796Ala	missense variant	-	NC_000016.10:g.1660036C>G	ESP,ExAC,TOPMed,gnomAD
rs1306371639	p.Pro797Ser	missense variant	-	NC_000016.10:g.1660039C>T	gnomAD
rs61746425	p.Ala800Thr	missense variant	-	NC_000016.10:g.1660048G>A	gnomAD
rs200073715	p.Ala800Val	missense variant	-	NC_000016.10:g.1660049C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs61746425	p.Ala800Pro	missense variant	-	NC_000016.10:g.1660048G>C	gnomAD
rs777430946	p.Ser803Phe	missense variant	-	NC_000016.10:g.1660058C>T	ExAC,TOPMed,gnomAD
rs1488527648	p.Gly805Arg	missense variant	-	NC_000016.10:g.1660063G>C	gnomAD
rs887680348	p.Gly805Val	missense variant	-	NC_000016.10:g.1662490G>T	TOPMed,gnomAD
rs887680348	p.Gly805Asp	missense variant	-	NC_000016.10:g.1662490G>A	TOPMed,gnomAD
rs1431627538	p.Asn808His	missense variant	-	NC_000016.10:g.1662498A>C	gnomAD
rs757079031	p.Pro809Arg	missense variant	-	NC_000016.10:g.1662502C>G	ExAC,gnomAD
rs757079031	p.Pro809Leu	missense variant	-	NC_000016.10:g.1662502C>T	ExAC,gnomAD
rs1375430585	p.Pro809Ser	missense variant	-	NC_000016.10:g.1662501C>T	gnomAD
rs1462706562	p.Pro810Ala	missense variant	-	NC_000016.10:g.1662504C>G	TOPMed
rs1305000726	p.Arg811Gly	missense variant	-	NC_000016.10:g.1662507A>G	gnomAD
rs1381321484	p.Leu814Ser	missense variant	-	NC_000016.10:g.1662517T>C	TOPMed,gnomAD
rs1470240482	p.Val815Ala	missense variant	-	NC_000016.10:g.1662520T>C	TOPMed
rs1036554119	p.Pro816Arg	missense variant	-	NC_000016.10:g.1662523C>G	TOPMed
rs369489514	p.Pro816Ala	missense variant	-	NC_000016.10:g.1662522C>G	ESP,ExAC,gnomAD
rs369489514	p.Pro816Ser	missense variant	-	NC_000016.10:g.1662522C>T	ESP,ExAC,gnomAD
rs1197454072	p.Gly817Val	missense variant	-	NC_000016.10:g.1662526G>T	TOPMed
rs1343697405	p.Ser819Pro	missense variant	-	NC_000016.10:g.1662531T>C	gnomAD
COSM3817322	p.Ser819Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1662532C>G	NCI-TCGA Cosmic
rs755554549	p.Ser819Phe	missense variant	-	NC_000016.10:g.1662532C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr821Lys	missense variant	-	NC_000016.10:g.1662538C>A	NCI-TCGA
rs536734837	p.Gly822Arg	missense variant	-	NC_000016.10:g.1662540G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1195815304	p.Ser823Thr	missense variant	-	NC_000016.10:g.1662544G>C	TOPMed
rs1463738022	p.Asn824Asp	missense variant	-	NC_000016.10:g.1662546A>G	TOPMed
rs772436155	p.Asn824Ser	missense variant	-	NC_000016.10:g.1662547A>G	ExAC,TOPMed,gnomAD
rs1485396628	p.Asp825Gly	missense variant	-	NC_000016.10:g.1662550A>G	gnomAD
rs778381966	p.Gly828Arg	missense variant	-	NC_000016.10:g.1662558G>C	ExAC,gnomAD
rs747335674	p.Gly828Val	missense variant	-	NC_000016.10:g.1662559G>T	ExAC,TOPMed,gnomAD
rs1352985988	p.Leu830Phe	missense variant	-	NC_000016.10:g.1662564C>T	TOPMed
rs1352985988	p.Leu830Val	missense variant	-	NC_000016.10:g.1662564C>G	TOPMed
rs759838917	p.Pro834Leu	missense variant	-	NC_000016.10:g.1662577C>T	ExAC,gnomAD
rs770117368	p.Thr836Ala	missense variant	-	NC_000016.10:g.1662582A>G	ExAC,gnomAD
rs1046185385	p.Pro839Leu	missense variant	-	NC_000016.10:g.1662592C>T	TOPMed
rs1430384197	p.Asn840Ser	missense variant	-	NC_000016.10:g.1662595A>G	gnomAD
NCI-TCGA novel	p.Ser841Arg	missense variant	-	NC_000016.10:g.1662599C>G	NCI-TCGA
rs1287473738	p.Arg842Gln	missense variant	-	NC_000016.10:g.1662601G>A	gnomAD
rs1303886936	p.Arg842Ter	stop gained	-	NC_000016.10:g.1662600C>T	TOPMed
rs775413489	p.His843Arg	missense variant	-	NC_000016.10:g.1662604A>G	ExAC,gnomAD
rs904822536	p.His843Tyr	missense variant	-	NC_000016.10:g.1662603C>T	TOPMed
rs763900969	p.Gly844Arg	missense variant	-	NC_000016.10:g.1662606G>A	ExAC,TOPMed,gnomAD
rs761540603	p.Leu846Val	missense variant	-	NC_000016.10:g.1662612C>G	ExAC
COSM967612	p.Phe847Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1662617C>A	NCI-TCGA Cosmic
rs763311481	p.Phe847Ser	missense variant	-	NC_000016.10:g.1662616T>C	gnomAD
rs146404798	p.Ser850Asn	missense variant	-	NC_000016.10:g.1662625G>A	1000Genomes,TOPMed
rs545394109	p.Ala853Thr	missense variant	-	NC_000016.10:g.1662633G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1466450946	p.Thr856Ser	missense variant	-	NC_000016.10:g.1662643C>G	TOPMed,gnomAD
rs1466450946	p.Thr856Ile	missense variant	-	NC_000016.10:g.1662643C>T	TOPMed,gnomAD
rs779805004	p.Phe857Leu	missense variant	-	NC_000016.10:g.1662647C>G	ExAC,TOPMed,gnomAD
rs1252475548	p.Phe857Val	missense variant	-	NC_000016.10:g.1662645T>G	gnomAD
rs778089266	p.Arg858His	missense variant	-	NC_000016.10:g.1662649G>A	ExAC,TOPMed,gnomAD
rs754545843	p.Arg858Cys	missense variant	-	NC_000016.10:g.1662648C>T	ExAC,TOPMed,gnomAD
rs1020783857	p.Gln859Arg	missense variant	-	NC_000016.10:g.1662652A>G	TOPMed,gnomAD
rs967429326	p.Asn862Ser	missense variant	-	NC_000016.10:g.1662661A>G	TOPMed,gnomAD
rs1001038539	p.Ile864Val	missense variant	-	NC_000016.10:g.1662666A>G	TOPMed,gnomAD
rs771350552	p.Ser865Asn	missense variant	-	NC_000016.10:g.1662670G>A	ExAC,TOPMed,gnomAD
rs771350552	p.Ser865Thr	missense variant	-	NC_000016.10:g.1662670G>C	ExAC,TOPMed,gnomAD
rs1418203059	p.Gln867Ter	stop gained	-	NC_000016.10:g.1662764C>T	gnomAD
rs758017798	p.Gln867Arg	missense variant	-	NC_000016.10:g.1662765A>G	ExAC,gnomAD
rs1232269585	p.Gln867His	missense variant	-	NC_000016.10:g.1662766G>T	TOPMed
rs1169924344	p.Ser868Leu	missense variant	-	NC_000016.10:g.1662768C>T	gnomAD
NCI-TCGA novel	p.Phe870Leu	missense variant	-	NC_000016.10:g.1662775C>A	NCI-TCGA
rs750956677	p.Pro875Ser	missense variant	-	NC_000016.10:g.1662788C>T	ExAC
rs756367996	p.Pro875Leu	missense variant	-	NC_000016.10:g.1662789C>T	ExAC,gnomAD
rs1341993238	p.Lys877Thr	missense variant	-	NC_000016.10:g.1662795A>C	gnomAD
rs1450505016	p.Arg879Gln	missense variant	-	NC_000016.10:g.1662801G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg879Leu	missense variant	-	NC_000016.10:g.1662801G>T	NCI-TCGA
rs749674521	p.Arg881Gln	missense variant	-	NC_000016.10:g.1662807G>A	ExAC,gnomAD
rs780462220	p.Arg881Trp	missense variant	-	NC_000016.10:g.1662806C>T	ExAC,TOPMed,gnomAD
rs1042294114	p.Arg884Trp	missense variant	-	NC_000016.10:g.1662815C>T	TOPMed
rs755172548	p.Lys885Ter	stop gained	-	NC_000016.10:g.1662818A>T	ExAC,gnomAD
rs779145584	p.Lys885Met	missense variant	-	NC_000016.10:g.1662819A>T	ExAC,gnomAD
NCI-TCGA novel	p.Pro886Ser	missense variant	-	NC_000016.10:g.1662821C>T	NCI-TCGA
NCI-TCGA novel	p.Pro886Leu	missense variant	-	NC_000016.10:g.1662822C>T	NCI-TCGA
rs772160637	p.Leu887Pro	missense variant	-	NC_000016.10:g.1662825T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg891Gly	missense variant	-	NC_000016.10:g.1665057A>G	NCI-TCGA
rs768480875	p.Ser898Leu	missense variant	-	NC_000016.10:g.1665079C>T	ExAC,TOPMed,gnomAD
rs768480875	p.Ser898Ter	stop gained	-	NC_000016.10:g.1665079C>A	ExAC,TOPMed,gnomAD
rs1356678038	p.Glu899Gly	missense variant	-	NC_000016.10:g.1665082A>G	TOPMed,gnomAD
rs1210212849	p.Glu899Lys	missense variant	-	NC_000016.10:g.1665081G>A	gnomAD
rs1381055119	p.Asn900His	missense variant	-	NC_000016.10:g.1665084A>C	TOPMed
rs559271202	p.Asn900Lys	missense variant	-	NC_000016.10:g.1665086C>G	1000Genomes,TOPMed
rs761271868	p.Gln901Arg	missense variant	-	NC_000016.10:g.1665088A>G	ExAC,gnomAD
rs376521525	p.His903Arg	missense variant	-	NC_000016.10:g.1665094A>G	ESP,ExAC,TOPMed,gnomAD
rs1012802667	p.Asn904Ser	missense variant	-	NC_000016.10:g.1665097A>G	TOPMed
rs1447328370	p.Asn904Asp	missense variant	-	NC_000016.10:g.1665096A>G	gnomAD
rs1268806393	p.Val905Ile	missense variant	-	NC_000016.10:g.1665099G>A	gnomAD
rs1375672041	p.Cys906Tyr	missense variant	-	NC_000016.10:g.1665103G>A	gnomAD
COSM3506483	p.Ser907Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1665106C>T	NCI-TCGA Cosmic
rs369831738	p.Phe908Leu	missense variant	-	NC_000016.10:g.1665108T>C	ESP,ExAC,TOPMed,gnomAD
rs765589851	p.Phe908Cys	missense variant	-	NC_000016.10:g.1665109T>G	ExAC,gnomAD
rs753123955	p.Ile910Val	missense variant	-	NC_000016.10:g.1665114A>G	ExAC,TOPMed,gnomAD
rs373148310	p.Ile910Met	missense variant	-	NC_000016.10:g.1665116C>G	ESP,ExAC,TOPMed,gnomAD
rs377270440	p.Leu911Val	missense variant	-	NC_000016.10:g.1665117C>G	ESP,ExAC,gnomAD
rs745809507	p.Ser912Cys	missense variant	-	NC_000016.10:g.1665121C>G	ExAC,gnomAD
rs781128527	p.Ser912Ala	missense variant	-	NC_000016.10:g.1665120T>G	ExAC,gnomAD
rs1392908277	p.Asn913Asp	missense variant	-	NC_000016.10:g.1665123A>G	gnomAD
rs769922762	p.Ser914Phe	missense variant	-	NC_000016.10:g.1665127C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser914Cys	missense variant	-	NC_000016.10:g.1665127C>G	NCI-TCGA
rs749145303	p.Val916Ile	missense variant	-	NC_000016.10:g.1665132G>A	ExAC,TOPMed,gnomAD
rs768325816	p.Thr917Ser	missense variant	-	NC_000016.10:g.1665136C>G	ExAC,gnomAD
COSM967614	p.Arg919Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1666076G>A	NCI-TCGA Cosmic
rs1180347685	p.Ser921Leu	missense variant	-	NC_000016.10:g.1666082C>T	gnomAD
COSM967615	p.Ser921Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1666081T>A	NCI-TCGA Cosmic
rs1445457686	p.Arg923Trp	missense variant	-	NC_000016.10:g.1666087C>T	TOPMed,gnomAD
rs746567769	p.Arg923Gln	missense variant	-	NC_000016.10:g.1666088G>A	ExAC,TOPMed,gnomAD
rs770253104	p.Ile925Val	missense variant	-	NC_000016.10:g.1666093A>G	ExAC,gnomAD
rs544773439	p.Gln926Leu	missense variant	-	NC_000016.10:g.1666097A>T	ExAC,TOPMed,gnomAD
rs544773439	p.Gln926Arg	missense variant	-	NC_000016.10:g.1666097A>G	ExAC,TOPMed,gnomAD
rs763322612	p.Leu929Val	missense variant	-	NC_000016.10:g.1666105C>G	ExAC,gnomAD
rs1464809357	p.Ala933Thr	missense variant	-	NC_000016.10:g.1666117G>A	gnomAD
rs1304948996	p.Ala933Val	missense variant	-	NC_000016.10:g.1666118C>T	gnomAD
rs1379530094	p.Leu934Val	missense variant	-	NC_000016.10:g.1666120C>G	gnomAD
rs764373660	p.Arg936Gln	missense variant	-	NC_000016.10:g.1666127G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg936Trp	missense variant	-	NC_000016.10:g.1666126C>T	NCI-TCGA
rs774850278	p.Pro937Leu	missense variant	-	NC_000016.10:g.1666130C>T	ExAC,gnomAD
rs767829841	p.Ile938Met	missense variant	-	NC_000016.10:g.1666134C>G	ExAC,gnomAD
rs1310352406	p.Val939Met	missense variant	-	NC_000016.10:g.1666135G>A	TOPMed,gnomAD
rs1310352406	p.Val939Leu	missense variant	-	NC_000016.10:g.1666135G>C	TOPMed,gnomAD
rs750499768	p.Lys941Arg	missense variant	-	NC_000016.10:g.1666142A>G	ExAC,gnomAD
rs1256334691	p.Val942Phe	missense variant	-	NC_000016.10:g.1666144G>T	gnomAD
rs1260699884	p.Pro945Leu	missense variant	-	NC_000016.10:g.1666154C>T	TOPMed
rs1461970716	p.Gln946Ter	stop gained	-	NC_000016.10:g.1666156C>T	gnomAD
rs777790907	p.Gln946Pro	missense variant	-	NC_000016.10:g.1666157A>C	TOPMed,gnomAD
rs777790907	p.Gln946Arg	missense variant	-	NC_000016.10:g.1666157A>G	TOPMed,gnomAD
rs1451340368	p.Ala947Thr	missense variant	-	NC_000016.10:g.1666159G>A	gnomAD
rs766372583	p.Thr948Met	missense variant	-	NC_000016.10:g.1666163C>T	ExAC,TOPMed,gnomAD
rs754733822	p.Ser949Asn	missense variant	-	NC_000016.10:g.1666166G>A	ExAC,TOPMed,gnomAD
rs1407236917	p.His950Gln	missense variant	-	NC_000016.10:g.1666170C>A	gnomAD
rs748029109	p.Ala952Pro	missense variant	-	NC_000016.10:g.1666174G>C	ExAC,gnomAD
rs756973137	p.Ser953Ile	missense variant	-	NC_000016.10:g.1666422G>T	ExAC,gnomAD
rs756973137	p.Ser953Asn	missense variant	-	NC_000016.10:g.1666422G>A	ExAC,gnomAD
rs757961173	p.Ser953Gly	missense variant	-	NC_000016.10:g.1666177A>G	ExAC,TOPMed,gnomAD
rs1180518526	p.Ile955Thr	missense variant	-	NC_000016.10:g.1666428T>C	gnomAD
rs368231819	p.Ile955Val	missense variant	-	NC_000016.10:g.1666427A>G	1000Genomes,ESP,TOPMed,gnomAD
rs371924728	p.Ile955Met	missense variant	-	NC_000016.10:g.1666429C>G	ESP,ExAC,TOPMed,gnomAD
rs769013086	p.Asp956Asn	missense variant	-	NC_000016.10:g.1666430G>A	ExAC,TOPMed,gnomAD
rs551703109	p.Leu957Ser	missense variant	-	NC_000016.10:g.1666434T>C	1000Genomes,ExAC,gnomAD
rs1163653973	p.Ala959Val	missense variant	-	NC_000016.10:g.1666440C>T	gnomAD
rs773500036	p.Ser961Asn	missense variant	-	NC_000016.10:g.1666446G>A	ExAC,gnomAD
rs1407889881	p.Ser961Arg	missense variant	-	NC_000016.10:g.1666445A>C	gnomAD
rs570491301	p.Gly963Ser	missense variant	-	NC_000016.10:g.1666451G>A	1000Genomes,ExAC,gnomAD
rs570491301	p.Gly963Cys	missense variant	-	NC_000016.10:g.1666451G>T	1000Genomes,ExAC,gnomAD
rs1328103825	p.Leu965Arg	missense variant	-	NC_000016.10:g.1666458T>G	TOPMed
rs1283758548	p.Ser966Pro	missense variant	-	NC_000016.10:g.1666460T>C	gnomAD
rs759698106	p.Gly967Arg	missense variant	-	NC_000016.10:g.1666463G>A	ExAC,gnomAD
rs765042149	p.Asn968Tyr	missense variant	-	NC_000016.10:g.1666466A>T	ExAC,gnomAD
rs752700402	p.Pro969Ala	missense variant	-	NC_000016.10:g.1666469C>G	ExAC,TOPMed,gnomAD
rs752700402	p.Pro969Ser	missense variant	-	NC_000016.10:g.1666469C>T	ExAC,TOPMed,gnomAD
rs375018736	p.Pro971Thr	missense variant	-	NC_000016.10:g.1666475C>A	ESP,ExAC,TOPMed,gnomAD
rs1237141885	p.Asp974Asn	missense variant	-	NC_000016.10:g.1666484G>A	gnomAD
NCI-TCGA novel	p.Asp974Gly	missense variant	-	NC_000016.10:g.1666485A>G	NCI-TCGA
rs1018991461	p.Glu976Gly	missense variant	-	NC_000016.10:g.1666491A>G	TOPMed,gnomAD
rs566177647	p.Glu976Lys	missense variant	-	NC_000016.10:g.1666490G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs369192985	p.Gly977Cys	missense variant	-	NC_000016.10:g.1666493G>T	ESP,TOPMed
rs780863297	p.Leu978Phe	missense variant	-	NC_000016.10:g.1666498G>C	ExAC,TOPMed,gnomAD
rs372466817	p.Gly980Asp	missense variant	-	NC_000016.10:g.1666503G>A	ESP,ExAC,TOPMed,gnomAD
rs1388990272	p.Ile981Thr	missense variant	-	NC_000016.10:g.1666506T>C	gnomAD
rs1265842180	p.Ser982Pro	missense variant	-	NC_000016.10:g.1666508T>C	TOPMed
rs1170337234	p.Ser982Cys	missense variant	-	NC_000016.10:g.1666509C>G	gnomAD
rs779232207	p.Leu984Val	missense variant	-	NC_000016.10:g.1666514C>G	ExAC,gnomAD
rs1413754602	p.Leu984Arg	missense variant	-	NC_000016.10:g.1666515T>G	gnomAD
rs1331943292	p.Ser985Phe	missense variant	-	NC_000016.10:g.1666518C>T	gnomAD
rs748691370	p.Ser986Ala	missense variant	-	NC_000016.10:g.1666520T>G	ExAC,TOPMed,gnomAD
rs372834355	p.Glu988Lys	missense variant	-	NC_000016.10:g.1666526G>A	ExAC,TOPMed,gnomAD
rs747427403	p.Glu988Gly	missense variant	-	NC_000016.10:g.1666527A>G	ExAC,gnomAD
rs1272377755	p.Val989Met	missense variant	-	NC_000016.10:g.1666529G>A	TOPMed,gnomAD
rs61741505	p.Thr990Met	missense variant	-	NC_000016.10:g.1666533C>T	ExAC,TOPMed,gnomAD
rs1340665313	p.Thr990Ser	missense variant	-	NC_000016.10:g.1666532A>T	gnomAD
rs745884113	p.Ala992Gly	missense variant	-	NC_000016.10:g.1666539C>G	ExAC,TOPMed,gnomAD
rs745884113	p.Ala992Val	missense variant	-	NC_000016.10:g.1666539C>T	ExAC,TOPMed,gnomAD
rs1443838044	p.Ala992Pro	missense variant	-	NC_000016.10:g.1666538G>C	gnomAD
rs775501492	p.Ile993Leu	missense variant	-	NC_000016.10:g.1666541A>C	ExAC,gnomAD
rs373808650	p.Ser994Leu	missense variant	-	NC_000016.10:g.1666545C>T	ESP,ExAC,TOPMed,gnomAD
rs1477638466	p.Gly995Val	missense variant	-	NC_000016.10:g.1666548G>T	gnomAD
rs1404024130	p.Gln996His	missense variant	-	NC_000016.10:g.1666552G>C	gnomAD
rs984646961	p.Gln996Ter	stop gained	-	NC_000016.10:g.1666550C>T	TOPMed
rs761628477	p.Thr999Ile	missense variant	-	NC_000016.10:g.1666560C>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr1001Ser	missense variant	-	NC_000016.10:g.1666566C>G	NCI-TCGA
rs767029837	p.Asp1004Asn	missense variant	-	NC_000016.10:g.1666574G>A	ExAC,TOPMed,gnomAD
rs1433069840	p.Asp1004Val	missense variant	-	NC_000016.10:g.1666575A>T	gnomAD
rs750105642	p.Gly1005Ala	missense variant	-	NC_000016.10:g.1666578G>C	ExAC,gnomAD
rs753455308	p.Thr1007Asn	missense variant	-	NC_000016.10:g.1666584C>A	ExAC,gnomAD
rs1326049053	p.Leu1008Pro	missense variant	-	NC_000016.10:g.1666587T>C	TOPMed,gnomAD
rs1326049053	p.Leu1008His	missense variant	-	NC_000016.10:g.1666587T>A	TOPMed,gnomAD
rs1223761854	p.Pro1009Leu	missense variant	-	NC_000016.10:g.1666590C>T	gnomAD
rs1267164682	p.Thr1010Ile	missense variant	-	NC_000016.10:g.1666593C>T	gnomAD
rs201157275	p.Val1011Met	missense variant	-	NC_000016.10:g.1666595G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs201157275	p.Val1011Leu	missense variant	-	NC_000016.10:g.1666595G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs747333617	p.Val1011Ala	missense variant	-	NC_000016.10:g.1666596T>C	ExAC,gnomAD
rs201157275	p.Val1011Leu	missense variant	-	NC_000016.10:g.1666595G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1457519003	p.Gly1013Ser	missense variant	-	NC_000016.10:g.1667335G>A	gnomAD
rs969629329	p.Ser1014Cys	missense variant	-	NC_000016.10:g.1667339C>G	TOPMed,gnomAD
rs768371106	p.Asp1015Asn	missense variant	-	NC_000016.10:g.1667341G>A	ExAC,gnomAD
rs1307829380	p.Asp1015Gly	missense variant	-	NC_000016.10:g.1667342A>G	gnomAD
rs1307189316	p.Ile1020Val	missense variant	-	NC_000016.10:g.1667356A>G	gnomAD
COSM3506489	p.Pro1021Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1667359C>T	NCI-TCGA Cosmic
rs768738069	p.Ser1022Leu	missense variant	-	NC_000016.10:g.1667363C>T	ExAC,TOPMed,gnomAD
rs527913798	p.Ser1022Thr	missense variant	-	NC_000016.10:g.1667362T>A	1000Genomes,ExAC,gnomAD
rs185409776	p.Glu1027Gln	missense variant	-	NC_000016.10:g.1667377G>C	1000Genomes,gnomAD
rs748076246	p.Pro1028Leu	missense variant	-	NC_000016.10:g.1667381C>T	ExAC,TOPMed,gnomAD
rs368602730	p.Asp1031Gly	missense variant	-	NC_000016.10:g.1667390A>G	ESP,ExAC,TOPMed,gnomAD
rs368602730	p.Asp1031Val	missense variant	-	NC_000016.10:g.1667390A>T	ESP,ExAC,TOPMed,gnomAD
rs776441540	p.Ser1032Gly	missense variant	-	NC_000016.10:g.1667392A>G	ExAC,gnomAD
rs759056569	p.Ser1032Arg	missense variant	-	NC_000016.10:g.1667394T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe1033Leu	missense variant	-	NC_000016.10:g.1667397C>A	NCI-TCGA
rs368039138	p.Gln1034His	missense variant	-	NC_000016.10:g.1667400G>C	ESP,ExAC,TOPMed
rs759256028	p.Gly1035Asp	missense variant	-	NC_000016.10:g.1667963G>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1035Ser	missense variant	-	NC_000016.10:g.1667962G>A	NCI-TCGA
rs1406193372	p.Ser1036Leu	missense variant	-	NC_000016.10:g.1667966C>T	TOPMed,gnomAD
rs769621256	p.Ser1037Tyr	missense variant	-	NC_000016.10:g.1667969C>A	ExAC,gnomAD
rs1215038267	p.Val1038Ala	missense variant	-	NC_000016.10:g.1667972T>C	gnomAD
rs561147518	p.Val1038Leu	missense variant	-	NC_000016.10:g.1667971G>C	1000Genomes,ExAC,gnomAD
rs1300368337	p.Leu1039Pro	missense variant	-	NC_000016.10:g.1667975T>C	gnomAD
rs750911902	p.Leu1041Ser	missense variant	-	NC_000016.10:g.1667981T>C	ExAC,gnomAD
rs1208235654	p.Leu1041Phe	missense variant	-	NC_000016.10:g.1667982A>T	gnomAD
rs768019391	p.Leu1041Ile	missense variant	-	NC_000016.10:g.1667980T>A	ExAC,gnomAD
rs1032319962	p.Ser1042Pro	missense variant	-	NC_000016.10:g.1667983T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1042Phe	missense variant	-	NC_000016.10:g.1667984C>T	NCI-TCGA
rs560160907	p.Glu1043Asp	missense variant	-	NC_000016.10:g.1667988G>C	ExAC,TOPMed,gnomAD
rs1053582606	p.Ala1047Ser	missense variant	-	NC_000016.10:g.1667998G>T	TOPMed
rs766728095	p.Ala1047Gly	missense variant	-	NC_000016.10:g.1667999C>G	ExAC,gnomAD
rs369042741	p.Pro1048Arg	missense variant	-	NC_000016.10:g.1668002C>G	ESP,ExAC,TOPMed,gnomAD
rs369042741	p.Pro1048Leu	missense variant	-	NC_000016.10:g.1668002C>T	ESP,ExAC,TOPMed,gnomAD
rs371340604	p.Leu1049Ile	missense variant	-	NC_000016.10:g.1668004C>A	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1049Phe	missense variant	-	NC_000016.10:g.1668004C>T	NCI-TCGA
rs1025460930	p.Gln1050His	missense variant	-	NC_000016.10:g.1668009G>T	gnomAD
rs1365253385	p.Gln1050Ter	stop gained	-	NC_000016.10:g.1668007C>T	TOPMed
rs1156343541	p.Gly1052Ala	missense variant	-	NC_000016.10:g.1668014G>C	gnomAD
NCI-TCGA novel	p.Gly1052Asp	missense variant	-	NC_000016.10:g.1668014G>A	NCI-TCGA
rs1011578658	p.Leu1053Pro	missense variant	-	NC_000016.10:g.1668017T>C	TOPMed
rs1459517777	p.Leu1053Phe	missense variant	-	NC_000016.10:g.1668016C>T	TOPMed
rs528913473	p.Ile1055Val	missense variant	-	NC_000016.10:g.1668022A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1456603059	p.Ile1055Thr	missense variant	-	NC_000016.10:g.1668023T>C	TOPMed
rs777708207	p.Pro1056Ser	missense variant	-	NC_000016.10:g.1668025C>T	ExAC,TOPMed,gnomAD
rs757328704	p.Pro1056Leu	missense variant	-	NC_000016.10:g.1668026C>T	ExAC,TOPMed,gnomAD
rs777708207	p.Pro1056Thr	missense variant	-	NC_000016.10:g.1668025C>A	ExAC,TOPMed,gnomAD
rs769532726	p.Leu1057Pro	missense variant	-	NC_000016.10:g.1668029T>C	ExAC,gnomAD
rs769532726	p.Leu1057Arg	missense variant	-	NC_000016.10:g.1668029T>G	ExAC,gnomAD
COSM3969408	p.Ser1058Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1668032C>T	NCI-TCGA Cosmic
rs1318740949	p.Ser1059Leu	missense variant	-	NC_000016.10:g.1668035C>T	TOPMed,gnomAD
rs773981549	p.Ser1060Leu	missense variant	-	NC_000016.10:g.1668038C>T	ExAC,gnomAD
rs527303179	p.Ser1060Ala	missense variant	-	NC_000016.10:g.1668037T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs201284222	p.Ser1062Gly	missense variant	-	NC_000016.10:g.1668043A>G	ExAC,TOPMed,gnomAD
rs1269986707	p.Ser1062Asn	missense variant	-	NC_000016.10:g.1668044G>A	gnomAD
rs1270563399	p.Ser1063Cys	missense variant	-	NC_000016.10:g.1668047C>G	TOPMed
COSM1478557	p.Ser1064Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1668049A>T	NCI-TCGA Cosmic
rs1222139627	p.Thr1065Ser	missense variant	-	NC_000016.10:g.1668052A>T	TOPMed
rs776947246	p.Arg1066Gln	missense variant	-	NC_000016.10:g.1668056G>A	ExAC,TOPMed,gnomAD
rs961673221	p.Pro1069Leu	missense variant	-	NC_000016.10:g.1668065C>T	TOPMed,gnomAD
rs201809618	p.Pro1070Ala	missense variant	-	NC_000016.10:g.1668067C>G	ESP,ExAC,TOPMed,gnomAD
rs763487231	p.Val1072Ala	missense variant	-	NC_000016.10:g.1668074T>C	gnomAD
rs752875816	p.Val1072Ile	missense variant	-	NC_000016.10:g.1668073G>A	ExAC,TOPMed,gnomAD
rs1457817094	p.Ala1074Asp	missense variant	-	NC_000016.10:g.1668080C>A	TOPMed
rs1389368940	p.Leu1076Phe	missense variant	-	NC_000016.10:g.1668085C>T	TOPMed
rs986388090	p.Asp1077Asn	missense variant	-	NC_000016.10:g.1668088G>A	TOPMed
rs1289205136	p.Ile1078Val	missense variant	-	NC_000016.10:g.1668091A>G	gnomAD
rs1176368479	p.Ile1078Thr	missense variant	-	NC_000016.10:g.1668092T>C	TOPMed
rs1289205136	p.Ile1078Phe	missense variant	-	NC_000016.10:g.1668091A>T	gnomAD
COSM4487826	p.Ser1079Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1668095C>T	NCI-TCGA Cosmic
rs1016400262	p.Pro1083Leu	missense variant	-	NC_000016.10:g.1668107C>T	TOPMed,gnomAD
rs61746451	p.Pro1084Ser	missense variant	-	NC_000016.10:g.1668109C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755987546	p.Asp1086Val	missense variant	-	NC_000016.10:g.1668116A>T	ExAC,gnomAD
rs755987546	p.Asp1086Gly	missense variant	-	NC_000016.10:g.1668116A>G	ExAC,gnomAD
rs376251227	p.Ala1087Val	missense variant	-	NC_000016.10:g.1668119C>T	ESP,ExAC,TOPMed,gnomAD
rs1188362873	p.Ala1087Thr	missense variant	-	NC_000016.10:g.1668118G>A	gnomAD
rs747693903	p.Gln1090Arg	missense variant	-	NC_000016.10:g.1668128A>G	ExAC,gnomAD
rs141603777	p.Glu1092Lys	missense variant	-	NC_000016.10:g.1668133G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM4832480	p.Ala1094Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1668139G>A	NCI-TCGA Cosmic
rs1256916957	p.Thr1095Ile	missense variant	-	NC_000016.10:g.1668143C>T	TOPMed
rs777141622	p.His1096Asp	missense variant	-	NC_000016.10:g.1668145C>G	ExAC,TOPMed,gnomAD
rs1380587649	p.Asp1099Glu	missense variant	-	NC_000016.10:g.1668156C>G	gnomAD
rs759832189	p.Asp1099Asn	missense variant	-	NC_000016.10:g.1668154G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser1100Pro	missense variant	-	NC_000016.10:g.1668157T>C	NCI-TCGA
rs539021325	p.Ile1102Met	missense variant	-	NC_000016.10:g.1668165T>G	TOPMed,gnomAD
rs1435909592	p.Glu1103Gln	missense variant	-	NC_000016.10:g.1668166G>C	TOPMed
rs1342065340	p.Ile1104Phe	missense variant	-	NC_000016.10:g.1668169A>T	gnomAD
rs763071302	p.Ala1105Thr	missense variant	-	NC_000016.10:g.1668172G>A	ExAC,gnomAD
rs751554390	p.Ile1106Val	missense variant	-	NC_000016.10:g.1668175A>G	ExAC,gnomAD
rs1240734764	p.Ser1107Gly	missense variant	-	NC_000016.10:g.1668178A>G	gnomAD
rs1462225676	p.Ser1108Thr	missense variant	-	NC_000016.10:g.1668181T>A	gnomAD
rs551374666	p.Gly1109Arg	missense variant	-	NC_000016.10:g.1668184G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs551374666	p.Gly1109Ser	missense variant	-	NC_000016.10:g.1668184G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750395226	p.Tyr1111Ser	missense variant	-	NC_000016.10:g.1668191A>C	ExAC,gnomAD
rs779703361	p.Gly1112Ser	missense variant	-	NC_000016.10:g.1668193G>A	ExAC,TOPMed,gnomAD
rs767705444	p.Gly1112Asp	missense variant	-	NC_000016.10:g.1669001G>A	ExAC,TOPMed,gnomAD
rs750593408	p.Val1115Ile	missense variant	-	NC_000016.10:g.1669009G>A	ExAC,gnomAD
NCI-TCGA novel	p.Val1115Ala	missense variant	-	NC_000016.10:g.1669010T>C	NCI-TCGA
rs1223697357	p.Pro1116His	missense variant	-	NC_000016.10:g.1669013C>A	gnomAD
rs760671014	p.Pro1116Ala	missense variant	-	NC_000016.10:g.1669012C>G	ExAC,TOPMed,gnomAD
rs760671014	p.Pro1116Ser	missense variant	-	NC_000016.10:g.1669012C>T	ExAC,TOPMed,gnomAD
rs1256830369	p.Leu1117Pro	missense variant	-	NC_000016.10:g.1669016T>C	TOPMed
rs1347846882	p.Ser1118Phe	missense variant	-	NC_000016.10:g.1669019C>T	TOPMed,gnomAD
rs374312197	p.Ser1118Pro	missense variant	-	NC_000016.10:g.1669018T>C	ESP,ExAC,TOPMed,gnomAD
rs753534037	p.Pro1119Ala	missense variant	-	NC_000016.10:g.1669021C>G	ExAC,gnomAD
COSM3506493	p.Pro1119Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1669022C>T	NCI-TCGA Cosmic
COSM4058672	p.Ala1120Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1669025C>T	NCI-TCGA Cosmic
rs1490157045	p.Leu1122Met	missense variant	-	NC_000016.10:g.1669030C>A	gnomAD
rs1229212450	p.Gly1124Val	missense variant	-	NC_000016.10:g.1669037G>T	TOPMed
rs200956828	p.Ser1125Asn	missense variant	-	NC_000016.10:g.1669040G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200956828	p.Ser1125Ile	missense variant	-	NC_000016.10:g.1669040G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201896175	p.Ser1125Gly	missense variant	-	NC_000016.10:g.1669039A>G	1000Genomes
NCI-TCGA novel	p.Asp1126His	missense variant	-	NC_000016.10:g.1669042G>C	NCI-TCGA
rs1363316585	p.Ser1127Asn	missense variant	-	NC_000016.10:g.1669046G>A	gnomAD
rs1200325365	p.Ser1127Arg	missense variant	-	NC_000016.10:g.1669045A>C	gnomAD
rs113077689	p.Ser1128Tyr	missense variant	-	NC_000016.10:g.1669049C>A	ExAC,TOPMed,gnomAD
rs113077689	p.Ser1128Cys	missense variant	-	NC_000016.10:g.1669049C>G	ExAC,TOPMed,gnomAD
rs746569774	p.Pro1132Thr	missense variant	-	NC_000016.10:g.1669060C>A	ExAC,gnomAD
rs1301707439	p.Ser1133Ala	missense variant	-	NC_000016.10:g.1669063T>G	gnomAD
rs1301707439	p.Ser1133Thr	missense variant	-	NC_000016.10:g.1669063T>A	gnomAD
rs370509468	p.Pro1134Thr	missense variant	-	NC_000016.10:g.1669066C>A	ESP,ExAC,gnomAD
rs780635813	p.Pro1134Leu	missense variant	-	NC_000016.10:g.1669067C>T	ExAC,TOPMed,gnomAD
rs1449540806	p.Ser1137Arg	missense variant	-	NC_000016.10:g.1669077C>G	TOPMed
COSM1478558	p.Gln1139Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000016.10:g.1669081C>T	NCI-TCGA Cosmic
rs774926972	p.His1141Leu	missense variant	-	NC_000016.10:g.1669088A>T	ExAC,gnomAD
rs774926972	p.His1141Pro	missense variant	-	NC_000016.10:g.1669088A>C	ExAC,gnomAD
rs1279611151	p.His1141Tyr	missense variant	-	NC_000016.10:g.1669087C>T	gnomAD
rs772474983	p.Ile1143Met	missense variant	-	NC_000016.10:g.1669095C>G	ExAC,TOPMed,gnomAD
rs773398102	p.Ala1144Thr	missense variant	-	NC_000016.10:g.1669096G>A	ExAC,gnomAD
rs766176053	p.Thr1147Ser	missense variant	-	NC_000016.10:g.1669105A>T	ExAC,gnomAD
NCI-TCGA novel	p.Thr1147Ala	missense variant	-	NC_000016.10:g.1669105A>G	NCI-TCGA
rs776639510	p.His1148Arg	missense variant	-	NC_000016.10:g.1669109A>G	ExAC,gnomAD
rs765075461	p.Asp1149Asn	missense variant	-	NC_000016.10:g.1669111G>A	ExAC,gnomAD
rs752545788	p.Pro1150His	missense variant	-	NC_000016.10:g.1669115C>A	ExAC,gnomAD
rs1162157575	p.Tyr1153Cys	missense variant	-	NC_000016.10:g.1669124A>G	gnomAD
rs1425758394	p.Ser1155Asn	missense variant	-	NC_000016.10:g.1669130G>A	gnomAD
rs763774914	p.Asp1156Glu	missense variant	-	NC_000016.10:g.1669134C>G	ExAC,gnomAD
rs1393943389	p.Ser1157Pro	missense variant	-	NC_000016.10:g.1669135T>C	gnomAD
rs751022982	p.Ser1157Cys	missense variant	-	NC_000016.10:g.1669136C>G	ExAC,gnomAD
rs780359215	p.Asp1159Asn	missense variant	-	NC_000016.10:g.1669141G>A	ExAC,TOPMed,gnomAD
rs1243703679	p.Ser1161Leu	missense variant	-	NC_000016.10:g.1669148C>T	gnomAD
rs368858091	p.Phe1166Val	missense variant	-	NC_000016.10:g.1669162T>G	ESP,ExAC,TOPMed,gnomAD
rs1286446160	p.Ile1170Val	missense variant	-	NC_000016.10:g.1670672A>G	TOPMed
rs1452975315	p.Ile1170Thr	missense variant	-	NC_000016.10:g.1670673T>C	gnomAD
rs1287100171	p.Ser1171Tyr	missense variant	-	NC_000016.10:g.1670676C>A	gnomAD
rs1314359484	p.Pro1172Ala	missense variant	-	NC_000016.10:g.1670678C>G	gnomAD
rs1363980850	p.Glu1173Gln	missense variant	-	NC_000016.10:g.1670681G>C	gnomAD
rs1382607334	p.Ser1175Gly	missense variant	-	NC_000016.10:g.1670687A>G	gnomAD
rs959717787	p.Arg1176Trp	missense variant	-	NC_000016.10:g.1670690C>T	TOPMed
rs771116293	p.Arg1176Gln	missense variant	-	NC_000016.10:g.1670691G>A	ExAC,gnomAD
rs776750162	p.Lys1177Arg	missense variant	-	NC_000016.10:g.1670694A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys1177Asn	missense variant	-	NC_000016.10:g.1670695G>T	NCI-TCGA
rs745972962	p.Met1178Ile	missense variant	-	NC_000016.10:g.1670698G>T	ExAC,TOPMed,gnomAD
rs377109203	p.Pro1180Leu	missense variant	-	NC_000016.10:g.1670703C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1441429015	p.Thr1181Ile	missense variant	-	NC_000016.10:g.1670706C>T	TOPMed
rs59339153	p.Ile1183Ser	missense variant	-	NC_000016.10:g.1670712T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1215143307	p.Ile1183Phe	missense variant	-	NC_000016.10:g.1670711A>T	gnomAD
rs1215143307	p.Ile1183Val	missense variant	-	NC_000016.10:g.1670711A>G	gnomAD
rs59339153	p.Ile1183Thr	missense variant	-	NC_000016.10:g.1670712T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs376262203	p.Thr1185Ile	missense variant	-	NC_000016.10:g.1670718C>T	ESP,TOPMed
COSM1376151	p.Asn1186Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1670720A>G	NCI-TCGA Cosmic
rs774073119	p.Ser1187Gly	missense variant	-	NC_000016.10:g.1670723A>G	ExAC,gnomAD
rs1268568834	p.Gly1188Ser	missense variant	-	NC_000016.10:g.1670726G>A	gnomAD
rs1479272511	p.Gly1188Asp	missense variant	-	NC_000016.10:g.1670727G>A	gnomAD
NCI-TCGA novel	p.Leu1192Phe	missense variant	-	NC_000016.10:g.1670738C>T	NCI-TCGA
rs947619230	p.Pro1194Leu	missense variant	-	NC_000016.10:g.1670745C>T	-
rs760286999	p.Gly1199Arg	missense variant	-	NC_000016.10:g.1670759G>A	ExAC,gnomAD
rs765778573	p.Ser1201Leu	missense variant	-	NC_000016.10:g.1670766C>T	ExAC,gnomAD
rs534702752	p.Arg1202Trp	missense variant	-	NC_000016.10:g.1670768C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs534702752	p.Arg1202Gly	missense variant	-	NC_000016.10:g.1670768C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1285496501	p.Arg1202Gln	missense variant	-	NC_000016.10:g.1670769G>A	TOPMed,gnomAD
rs1223331349	p.Ser1204Leu	missense variant	-	NC_000016.10:g.1670775C>T	gnomAD
rs1304933732	p.Phe1205Leu	missense variant	-	NC_000016.10:g.1670779T>G	TOPMed,gnomAD
rs1319280736	p.Val1206Met	missense variant	-	NC_000016.10:g.1670780G>A	gnomAD
NCI-TCGA novel	p.Ser1207Phe	missense variant	-	NC_000016.10:g.1670784C>T	NCI-TCGA
rs936715308	p.Arg1208Gly	missense variant	-	NC_000016.10:g.1670786A>G	TOPMed
rs757470497	p.Ser1209Phe	missense variant	-	NC_000016.10:g.1670790C>T	ExAC,gnomAD
rs1347214052	p.Leu1210Arg	missense variant	-	NC_000016.10:g.1670793T>G	TOPMed
rs371068391	p.Val1213Ile	missense variant	-	NC_000016.10:g.1670801G>A	ESP,ExAC,TOPMed,gnomAD
rs1469284862	p.Ala1214Val	missense variant	-	NC_000016.10:g.1670805C>T	gnomAD
rs1174993691	p.Glu1215Gly	missense variant	-	NC_000016.10:g.1670808A>G	gnomAD
rs1336134099	p.Val1216Ala	missense variant	-	NC_000016.10:g.1673882T>C	gnomAD
rs778740988	p.Val1217Leu	missense variant	-	NC_000016.10:g.1673884G>T	ExAC,TOPMed,gnomAD
rs771764619	p.Met1224Val	missense variant	-	NC_000016.10:g.1673905A>G	ExAC,gnomAD
rs773124425	p.Met1224Thr	missense variant	-	NC_000016.10:g.1673906T>C	ExAC,gnomAD
COSM4844201	p.Met1225Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000016.10:g.1673910G>T	NCI-TCGA Cosmic
rs1177959450	p.Asn1226Ser	missense variant	-	NC_000016.10:g.1673912A>G	TOPMed
NCI-TCGA novel	p.Asn1228Ser	missense variant	-	NC_000016.10:g.1673918A>G	NCI-TCGA
rs1318131552	p.Ile1233Val	missense variant	-	NC_000016.10:g.1673932A>G	gnomAD
rs1241632488	p.Ser1234Ala	missense variant	-	NC_000016.10:g.1673935T>G	TOPMed
NCI-TCGA novel	p.Ser1234Pro	missense variant	-	NC_000016.10:g.1673935T>C	NCI-TCGA
NCI-TCGA novel	p.Ser1234Cys	missense variant	-	NC_000016.10:g.1673936C>G	NCI-TCGA
rs751287265	p.Arg1235Leu	missense variant	-	NC_000016.10:g.1673939G>T	ExAC,TOPMed,gnomAD
rs770753472	p.Arg1235Trp	missense variant	-	NC_000016.10:g.1673938C>T	ExAC,TOPMed,gnomAD
rs751287265	p.Arg1235Gln	missense variant	-	NC_000016.10:g.1673939G>A	ExAC,TOPMed,gnomAD
rs751287265	p.Arg1235Pro	missense variant	-	NC_000016.10:g.1673939G>C	ExAC,TOPMed,gnomAD
rs954450533	p.Asn1237Ser	missense variant	-	NC_000016.10:g.1673945A>G	TOPMed,gnomAD
rs774732375	p.Asn1237His	missense variant	-	NC_000016.10:g.1673944A>C	ExAC,gnomAD
rs774732375	p.Asn1237Asp	missense variant	-	NC_000016.10:g.1673944A>G	ExAC,gnomAD
rs1018206400	p.Ala1240Ser	missense variant	-	NC_000016.10:g.1673953G>T	gnomAD
NCI-TCGA novel	p.Gln1241Arg	missense variant	-	NC_000016.10:g.1673957A>G	NCI-TCGA
rs767759770	p.Ile1245Phe	missense variant	-	NC_000016.10:g.1673968A>T	ExAC,gnomAD
rs367605120	p.Ala1246Ser	missense variant	-	NC_000016.10:g.1673971G>T	ESP,ExAC,TOPMed,gnomAD
rs1403911087	p.Ala1246Val	missense variant	-	NC_000016.10:g.1673972C>T	gnomAD
rs367605120	p.Ala1246Thr	missense variant	-	NC_000016.10:g.1673971G>A	ESP,ExAC,TOPMed,gnomAD
rs753870206	p.Pro1248Leu	missense variant	-	NC_000016.10:g.1673978C>T	ExAC,gnomAD
rs778839791	p.Arg1250His	missense variant	-	NC_000016.10:g.1673984G>A	ExAC,TOPMed,gnomAD
rs755030192	p.Arg1250Cys	missense variant	-	NC_000016.10:g.1673983C>T	ExAC,gnomAD
rs929504482	p.Arg1251Gln	missense variant	-	NC_000016.10:g.1673987G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Arg1251Ter	stop gained	-	NC_000016.10:g.1673986C>T	NCI-TCGA
rs1451547341	p.Glu1252Ter	stop gained	-	NC_000016.10:g.1673989G>T	TOPMed
rs368501359	p.Asp1256Gly	missense variant	-	NC_000016.10:g.1674002A>G	1000Genomes,ESP,ExAC,gnomAD
rs368501359	p.Asp1256Val	missense variant	-	NC_000016.10:g.1674002A>T	1000Genomes,ESP,ExAC,gnomAD
rs532337782	p.Gly1257Asp	missense variant	-	NC_000016.10:g.1674005G>A	1000Genomes,ExAC,gnomAD
rs746838954	p.Gly1258Ala	missense variant	-	NC_000016.10:g.1674008G>C	ExAC,gnomAD
rs1283560875	p.Gly1261Ser	missense variant	-	NC_000016.10:g.1674016G>A	gnomAD
rs1445184712	p.Gly1261Asp	missense variant	-	NC_000016.10:g.1674017G>A	gnomAD
rs199923669	p.Ala1263Thr	missense variant	-	NC_000016.10:g.1674022G>A	ESP,ExAC,TOPMed,gnomAD
rs1383850584	p.Val1264Ile	missense variant	-	NC_000016.10:g.1674025G>A	TOPMed
rs1478271343	p.Asp1266Asn	missense variant	-	NC_000016.10:g.1674031G>A	gnomAD
rs1427446560	p.Leu1267Arg	missense variant	-	NC_000016.10:g.1674035T>G	gnomAD
rs1479085233	p.Ser1268Cys	missense variant	-	NC_000016.10:g.1674038C>G	gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0014544	Epilepsy	disease	GWASCAT
C0423791	Maculopapular eruption	phenotype	GWASCAT

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM
GO:0003677	DNA binding	IEA
GO:0003682	chromatin binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0006357	regulation of transcription by RNA polymerase II	IEA

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005634	nucleus	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence

Drugs and compounds information

ID	Drug Name	Action	PubMed
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 CRAMP1 mRNA	19150397
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of CRAMP1 mRNA	19770486
C015001	arsenite	arsenite results in increased methylation of CRAMP1 promoter	23974009
C044887	beta-methylcholine	beta-methylcholine affects the expression of CRAMP1 mRNA	21179406
C006780	bisphenol A	bisphenol A results in decreased methylation of CRAMP1 promoter	30906313
C006780	bisphenol A	bisphenol A results in decreased expression of CRAMP1 mRNA	29275510
C006780	bisphenol A	bisphenol A affects the expression of CRAMP1 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in decreased expression of CRAMP1 mRNA	26079696
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of CRAMP1 gene	20938992
D002994	Clofibrate	Clofibrate results in decreased expression of CRAMP1 mRNA	17585979
D016572	Cyclosporine	Cyclosporine results in increased expression of CRAMP1 mRNA	20106945; 25562108;
D004317	Doxorubicin	Doxorubicin results in decreased expression of CRAMP1 mRNA	29803840
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of CRAMP1 mRNA	17942748
D004997	Ethinyl Estradiol	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CRAMP1 mRNA	17942748
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of CRAMP1 gene	20938992
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of CRAMP1 gene	20938992
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of CRAMP1 mRNA	23649840
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of CRAMP1 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of CRAMP1 mRNA	25554681
C046012	pentanal	pentanal results in decreased expression of CRAMP1 mRNA	26079696
C017947	sodium arsenite	sodium arsenite results in decreased expression of CRAMP1 mRNA	29361514
D013749	Tetrachlorodibenzodioxin	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CRAMP1 mRNA	17942748
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of CRAMP1 mRNA	19770486
D000077288	Troglitazone	Troglitazone results in decreased expression of CRAMP1 mRNA	28973697
D014635	Valproic Acid	Valproic Acid affects the expression of CRAMP1 mRNA	25979313
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of CRAMP1 gene	25560391

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0238	DNA-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR001005	SANT/Myb
IPR017884	SANT_dom

PROSITE

PROSITE ID	PROSITE Term
PS51293	SANT

Pfam

Pfam ID	Pfam Term

Gene: CRAMP1

Basic information

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-miRNA interaction