CleftGeneDB-Search

Gene: RAD54B

Basic information

Tag	Content
Uniprot ID	Q9Y620; F6WBS8;
Entrez ID	25788
Genbank protein ID	AAD34331.1; AAH01965.1;
Genbank nucleotide ID	NM_001205263.1; NM_012415.3;
Ensembl protein ID	ENSP00000430153; ENSP00000336606;
Ensembl nucleotide ID	ENSG00000197275
Gene name	DNA repair and recombination protein RAD54B
Gene symbol	RAD54B
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	28232668
Functional description	Involved in DNA repair and mitotic recombination. May play an active role in recombination processes in concert with other members of the RAD52 epistasis group.
Sequence	MRRSAAPSQL QGNSFKKPKF IPPGRSNPGL NEEITKLNPD IKLFEGVAIN NTFLPSQNDL 60 RICSLNLPSE ESTREINNRD NCSGKYCFEA PTLATLDPPH TVHSAPKEVA VSKEQEEKSD 120 SLVKYFSVVW CKPSKKKHKK WEGDAVLIVK GKSFILKNLE GKDIGRGIGY KFKELEKIEE 180 GQTLMICGKE IEVMGVISPD DFSSGRCFQL GGGSTAISHS SQVARKCFSN PFKSVCKPSS 240 KENRQNDFQN CKPRHDPYTP NSLVMPRPDK NHQWVFNKNC FPLVDVVIDP YLVYHLRPHQ 300 KEGIIFLYEC VMGMRMNGRC GAILADEMGL GKTLQCISLI WTLQCQGPYG GKPVIKKTLI 360 VTPGSLVNNW KKEFQKWLGS ERIKIFTVDQ DHKVEEFIKS IFYSVLIISY EMLLRSLDQI 420 KNIKFDLLIC DEGHRLKNSA IKTTTALISL SCEKRIILTG TPIQNDLQEF FALIDFVNPG 480 ILGSLSSYRK IYEEPIILSR EPSASEEEKE LGERRAAELT CLTGLFILRR TQEIINKYLP 540 PKIENVVFCR PGALQIELYR KLLNSQVVRF CLQGLLENSP HLICIGALKK LCNHPCLLFN 600 SIKEKECSST CDKNEEKSLY KGLLSVFPAD YNPLLFTEKE SGKLQVLSKL LAVIHELRPT 660 EKVVLVSNYT QTLNILQEVC KRHGYAYTRL DGQTPISQRQ QIVDGFNSQH SSFFIFLLSS 720 KAGGVGLNLI GGSHLILYDI DWNPATDIQA MSRVWRDGQK YPVHIYRLLT TGTIEEKIYQ 780 RQISKQGLCG AVVDLTKTSE HIQFSVEELK NLFTLHESSD CVTHDLLDCE CTGEEVHTGD 840 SLEKFIVSRD CQLGPHHQKS NSLKPLSMSQ LKQWKHFSGD HLNLTDPFLE RITENVSFIF 900 QNITTQATGT

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Species	Evidence	Details
1:1 ortholog	RAD54B	533414	F1MSA4	Bos taurus	Prediction	More>>
1:1 ortholog	RAD54B	487053	F1PW14	Canis lupus familiaris	Prediction	More>>
1:1 ortholog	FSBP	102186978	A0A452DW56	Capra hircus	Prediction	More>>
1:1 ortholog	RAD54B	25788	Q9Y620	Homo sapiens	Publication	More>>
1:1 ortholog	Rad54b	623474	Q6PFE3	Mus musculus	Prediction	More>>
1:1 ortholog	Rad54b	313063	F1LYB7	Rattus norvegicus	Prediction	More>>
1:1 ortholog	rad54b	560482	E9QHY4	Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
RAD54B	rs12681366-CT (protective)	HI-SNP	30172247
RAD54B	rs12681366A>G;	GWAS	28232668
RAD54B	rs957448A>G	GWAS	28232668

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
COSM3651925	p.Arg2Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94467535C>T	NCI-TCGA Cosmic
rs189646756	p.Arg3Gln	missense variant	-	NC_000008.11:g.94467532C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs145900595	p.Arg3Gly	missense variant	-	NC_000008.11:g.94467533G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145900595	p.Arg3Ter	stop gained	-	NC_000008.11:g.94467533G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs189646756	p.Arg3Pro	missense variant	-	NC_000008.11:g.94467532C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs189646756	p.Arg3Gln	missense variant	-	NC_000008.11:g.94467532C>T	NCI-TCGA,NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser4Thr	missense variant	-	NC_000008.11:g.94467530A>T	NCI-TCGA
rs1221124501	p.Pro7Arg	missense variant	-	NC_000008.11:g.94467520G>C	TOPMed
rs759575461	p.Pro7Ser	missense variant	-	NC_000008.11:g.94467521G>A	ExAC,gnomAD
rs142147806	p.Ser8Arg	missense variant	-	NC_000008.11:g.94467516A>T	ESP,ExAC,TOPMed,gnomAD
rs770808536	p.Gln11Ter	stop gained	-	NC_000008.11:g.94467509G>A	ExAC,gnomAD
rs1036728129	p.Asn13Ser	missense variant	-	NC_000008.11:g.94467502T>C	TOPMed
rs773600623	p.Asn13Asp	missense variant	-	NC_000008.11:g.94467503T>C	ExAC,gnomAD
rs939836944	p.Ser14Cys	missense variant	-	NC_000008.11:g.94467499G>C	TOPMed,gnomAD
rs147627613	p.Ser14Thr	missense variant	-	NC_000008.11:g.94467500A>T	ESP,ExAC,TOPMed,gnomAD
rs770305570	p.Lys16Gln	missense variant	-	NC_000008.11:g.94467494T>G	gnomAD
NCI-TCGA novel	p.Lys17Ile	missense variant	-	NC_000008.11:g.94467490T>A	NCI-TCGA
rs1429760688	p.Pro18Ser	missense variant	-	NC_000008.11:g.94467488G>A	gnomAD
NCI-TCGA novel	p.Lys19Ile	missense variant	-	NC_000008.11:g.94467484T>A	NCI-TCGA
COSM1458707	p.Phe20Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94467482A>T	NCI-TCGA Cosmic
COSM1102576	p.Phe20Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94467481A>C	NCI-TCGA Cosmic
rs1343419905	p.Ile21Leu	missense variant	-	NC_000008.11:g.94467479T>A	gnomAD
rs1414899715	p.Pro22Leu	missense variant	-	NC_000008.11:g.94467475G>A	gnomAD
rs748255130	p.Pro22Thr	missense variant	-	NC_000008.11:g.94467476G>T	ExAC,gnomAD
rs781393802	p.Arg25Gly	missense variant	-	NC_000008.11:g.94467467T>C	ExAC,gnomAD
rs1426010784	p.Asn27Ile	missense variant	-	NC_000008.11:g.94467460T>A	gnomAD
rs769043606	p.Asn27His	missense variant	-	NC_000008.11:g.94467461T>G	ExAC,TOPMed,gnomAD
rs371957108	p.Pro28Arg	missense variant	-	NC_000008.11:g.94467457G>C	ESP,ExAC,TOPMed,gnomAD
rs371957108	p.Pro28Leu	missense variant	-	NC_000008.11:g.94467457G>A	ESP,ExAC,TOPMed,gnomAD
rs1379509926	p.Gly29Asp	missense variant	-	NC_000008.11:g.94467454C>T	TOPMed
rs28910279	p.Leu30Val	missense variant	-	NC_000008.11:g.94467452G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs28910279	p.Leu30Val	missense variant	-	NC_000008.11:g.94467452G>C	UniProt,dbSNP
VAR_034430	p.Leu30Val	missense variant	-	NC_000008.11:g.94467452G>C	UniProt
rs1167573225	p.Glu32Gln	missense variant	-	NC_000008.11:g.94467446C>G	TOPMed
COSM1223019	p.Glu33Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94467441C>A	NCI-TCGA Cosmic
rs1369048461	p.Thr35Lys	missense variant	-	NC_000008.11:g.94467436G>T	TOPMed
rs116016126	p.Pro39Leu	missense variant	-	NC_000008.11:g.94467424G>A	1000Genomes,ExAC,gnomAD
rs932428397	p.Asp40Tyr	missense variant	-	NC_000008.11:g.94467422C>A	TOPMed,gnomAD
rs753445720	p.Asp40Glu	missense variant	-	NC_000008.11:g.94467420A>T	ExAC,gnomAD
rs932428397	p.Asp40Asn	missense variant	-	NC_000008.11:g.94467422C>T	TOPMed,gnomAD
rs777405675	p.Ile41Thr	missense variant	-	NC_000008.11:g.94467418A>G	ExAC,gnomAD
rs1295827382	p.Glu45Lys	missense variant	-	NC_000008.11:g.94467407C>T	gnomAD
rs755562491	p.Glu45Asp	missense variant	-	NC_000008.11:g.94467405C>G	ExAC,TOPMed
rs752434749	p.Gly46Cys	missense variant	-	NC_000008.11:g.94458436C>A	ExAC,gnomAD
NCI-TCGA novel	p.Asn51Asp	missense variant	-	NC_000008.11:g.94458421T>C	NCI-TCGA
rs754545921	p.Pro55Leu	missense variant	-	NC_000008.11:g.94458408G>A	ExAC,TOPMed,gnomAD
rs1167471970	p.Gln57Ter	stop gained	-	NC_000008.11:g.94458403G>A	gnomAD
rs1460379582	p.Asn58Tyr	missense variant	-	NC_000008.11:g.94458400T>A	gnomAD
NCI-TCGA novel	p.Asp59Tyr	missense variant	-	NC_000008.11:g.94458397C>A	NCI-TCGA
rs763039875	p.Ile62Val	missense variant	-	NC_000008.11:g.94458388T>C	ExAC,gnomAD
rs750235824	p.Ile62Met	missense variant	-	NC_000008.11:g.94458386T>C	ExAC,gnomAD
rs1390862990	p.Cys63Tyr	missense variant	-	NC_000008.11:g.94458384C>T	gnomAD
NCI-TCGA novel	p.Leu67Met	missense variant	-	NC_000008.11:g.94458373G>T	NCI-TCGA
rs746251354	p.Glu70Asp	missense variant	-	NC_000008.11:g.94458362T>G	ExAC,TOPMed,gnomAD
rs776938656	p.Glu71Lys	missense variant	-	NC_000008.11:g.94458361C>T	ExAC,TOPMed,gnomAD
rs1301622038	p.Glu71Asp	missense variant	-	NC_000008.11:g.94458359T>G	gnomAD
COSM1489482	p.Glu71Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94458361C>G	NCI-TCGA Cosmic
rs1455850784	p.Ser72Cys	missense variant	-	NC_000008.11:g.94458358T>A	TOPMed,gnomAD
rs200184918	p.Thr73Ile	missense variant	-	NC_000008.11:g.94458354G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1157815910	p.Arg74Ter	stop gained	-	NC_000008.11:g.94458352T>A	gnomAD
rs1416776604	p.Glu75Gly	missense variant	-	NC_000008.11:g.94458348T>C	gnomAD
COSM1102575	p.Glu75Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94458349C>A	NCI-TCGA Cosmic
rs760816607	p.Asn77Ser	missense variant	-	NC_000008.11:g.94458342T>C	ExAC,gnomAD
rs1199707549	p.Asn77Lys	missense variant	-	NC_000008.11:g.94458341A>C	gnomAD
NCI-TCGA novel	p.Arg79Ile	missense variant	-	NC_000008.11:g.94458336C>A	NCI-TCGA
NCI-TCGA novel	p.Asp80Tyr	missense variant	-	NC_000008.11:g.94458334C>A	NCI-TCGA
rs112882967	p.Asp80Val	missense variant	-	NC_000008.11:g.94458333T>A	gnomAD
rs112882967	p.Asp80Gly	missense variant	-	NC_000008.11:g.94458333T>C	gnomAD
rs1266538531	p.Asn81Ser	missense variant	-	NC_000008.11:g.94458330T>C	gnomAD
rs35973866	p.Ser83Gly	missense variant	-	NC_000008.11:g.94458325T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746441406	p.Gly84Arg	missense variant	-	NC_000008.11:g.94458322C>T	ExAC,TOPMed,gnomAD
rs1315200957	p.Lys85Arg	missense variant	-	NC_000008.11:g.94458318T>C	gnomAD
rs115899389	p.Pro91Leu	missense variant	-	NC_000008.11:g.94458300G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs115900589	p.Pro91Ser	missense variant	-	NC_000008.11:g.94458301G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs780901315	p.Leu93Pro	missense variant	-	NC_000008.11:g.94458294A>G	ExAC,TOPMed,gnomAD
rs780901315	p.Leu93Gln	missense variant	-	NC_000008.11:g.94458294A>T	ExAC,TOPMed,gnomAD
rs1335350239	p.Thr95Ile	missense variant	-	NC_000008.11:g.94458288G>A	TOPMed
rs2919661	p.Asp97His	missense variant	-	NC_000008.11:g.94458283C>G	UniProt,dbSNP
VAR_037885	p.Asp97His	missense variant	-	NC_000008.11:g.94458283C>G	UniProt
rs2919661	p.Asp97His	missense variant	-	NC_000008.11:g.94458283C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148525625	p.Pro98Leu	missense variant	-	NC_000008.11:g.94458279G>A	ESP,ExAC,TOPMed,gnomAD
rs1407702193	p.Pro99Thr	missense variant	-	NC_000008.11:g.94458277G>T	TOPMed,gnomAD
rs1407702193	p.Pro99Ser	missense variant	-	NC_000008.11:g.94458277G>A	TOPMed,gnomAD
rs61758786	p.His100Pro	missense variant	-	NC_000008.11:g.94458273T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1176460241	p.His100Tyr	missense variant	-	NC_000008.11:g.94458274G>A	TOPMed,gnomAD
rs1426736288	p.Thr101Ser	missense variant	-	NC_000008.11:g.94458271T>A	TOPMed,gnomAD
COSM3925719	p.His103Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94411313G>A	NCI-TCGA Cosmic
COSM454960	p.His103Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94411313G>C	NCI-TCGA Cosmic
rs780128897	p.Ser104Leu	missense variant	-	NC_000008.11:g.94411309G>A	ExAC,TOPMed,gnomAD
rs750878874	p.Ala105Ser	missense variant	-	NC_000008.11:g.94411307C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala105Thr	missense variant	-	NC_000008.11:g.94411307C>T	NCI-TCGA
rs1442119215	p.Pro106Ser	missense variant	-	NC_000008.11:g.94411304G>A	gnomAD
rs1442119215	p.Pro106Ala	missense variant	-	NC_000008.11:g.94411304G>C	gnomAD
NCI-TCGA novel	p.Glu108Ter	missense variant	-	NC_000008.11:g.94411298C>A	NCI-TCGA
rs1263882640	p.Val109Ile	missense variant	-	NC_000008.11:g.94411295C>T	TOPMed
rs1041009245	p.Val109Glu	missense variant	-	NC_000008.11:g.94411294A>T	TOPMed
NCI-TCGA novel	p.Ala110Ser	missense variant	-	NC_000008.11:g.94411292C>A	NCI-TCGA
rs143723079	p.Ser112Pro	missense variant	-	NC_000008.11:g.94411286A>G	ESP,ExAC,TOPMed,gnomAD
rs1261716480	p.Lys113Gln	missense variant	-	NC_000008.11:g.94411283T>G	TOPMed
NCI-TCGA novel	p.Glu114Gly	missense variant	-	NC_000008.11:g.94411279T>C	NCI-TCGA
rs1197704971	p.Glu114Asp	missense variant	-	NC_000008.11:g.94411278T>G	gnomAD
rs754253078	p.Gln115His	missense variant	-	NC_000008.11:g.94411275T>G	ExAC,TOPMed,gnomAD
rs764595338	p.Glu116Lys	missense variant	-	NC_000008.11:g.94411274C>T	ExAC,gnomAD
rs1338718485	p.Glu116Gly	missense variant	-	NC_000008.11:g.94411273T>C	TOPMed,gnomAD
rs1362176523	p.Glu117Ter	stop gained	-	NC_000008.11:g.94411271C>A	gnomAD
rs773897375	p.Ser119Tyr	missense variant	-	NC_000008.11:g.94411264G>T	ExAC,TOPMed,gnomAD
rs900513831	p.Ser119Thr	missense variant	-	NC_000008.11:g.94411265A>T	TOPMed
rs1330495853	p.Ser121Arg	missense variant	-	NC_000008.11:g.94411257G>T	TOPMed,gnomAD
rs1338129135	p.Ser121Asn	missense variant	-	NC_000008.11:g.94411258C>T	TOPMed,gnomAD
rs1338129135	p.Ser121Ile	missense variant	-	NC_000008.11:g.94411258C>A	TOPMed,gnomAD
rs765873129	p.Tyr125Ter	stop gained	-	NC_000008.11:g.94411245A>C	ExAC,TOPMed,gnomAD
rs944063317	p.Ser127Ile	missense variant	-	NC_000008.11:g.94411240C>A	TOPMed
rs762382013	p.Ser127Gly	missense variant	-	NC_000008.11:g.94411241T>C	ExAC,gnomAD
rs1426529519	p.Val129Phe	missense variant	-	NC_000008.11:g.94411235C>A	gnomAD
NCI-TCGA novel	p.Trp130Ter	stop gained	-	NC_000008.11:g.94411230C>T	NCI-TCGA
rs368351289	p.Trp130Leu	missense variant	-	NC_000008.11:g.94411231C>A	ESP,ExAC,TOPMed,gnomAD
rs368351289	p.Trp130Ter	stop gained	-	NC_000008.11:g.94411231C>T	ESP,ExAC,TOPMed,gnomAD
rs376107387	p.Cys131Tyr	missense variant	-	NC_000008.11:g.94411228C>T	ESP,ExAC,TOPMed,gnomAD
rs1323717104	p.Lys132Arg	missense variant	-	NC_000008.11:g.94411225T>C	TOPMed
rs75952907	p.Pro133His	missense variant	-	NC_000008.11:g.94411222G>T	ESP,ExAC,TOPMed,gnomAD
rs75952907	p.Pro133Leu	missense variant	-	NC_000008.11:g.94411222G>A	ESP,ExAC,TOPMed,gnomAD
rs75952907	p.Pro133Arg	missense variant	-	NC_000008.11:g.94411222G>C	ESP,ExAC,TOPMed,gnomAD
rs146134783	p.His138Leu	missense variant	-	NC_000008.11:g.94411207T>A	ESP,ExAC,TOPMed,gnomAD
rs146134783	p.His138Arg	missense variant	-	NC_000008.11:g.94411207T>C	ESP,ExAC,TOPMed,gnomAD
rs555902676	p.Lys139Thr	missense variant	-	NC_000008.11:g.94411204T>G	1000Genomes,ExAC,gnomAD
rs555902676	p.Lys139Arg	missense variant	-	NC_000008.11:g.94411204T>C	1000Genomes,ExAC,gnomAD
rs1203423242	p.Trp141Arg	missense variant	-	NC_000008.11:g.94411199A>G	gnomAD
rs548333835	p.Trp141Cys	missense variant	-	NC_000008.11:g.94411197C>A	ExAC,TOPMed,gnomAD
rs548333835	p.Trp141Ter	stop gained	-	NC_000008.11:g.94411197C>T	ExAC,TOPMed,gnomAD
rs143019153	p.Val146Leu	missense variant	-	NC_000008.11:g.94411184C>G	ESP,ExAC,TOPMed,gnomAD
rs143019153	p.Val146Ile	missense variant	-	NC_000008.11:g.94411184C>T	ESP,ExAC,TOPMed,gnomAD
rs143019153	p.Val146Phe	missense variant	-	NC_000008.11:g.94411184C>A	ESP,ExAC,TOPMed,gnomAD
rs925899837	p.Ile148Thr	missense variant	-	NC_000008.11:g.94411177A>G	TOPMed,gnomAD
rs764505468	p.Val149Ile	missense variant	-	NC_000008.11:g.94411175C>T	ExAC,TOPMed,gnomAD
rs756579470	p.Lys152Glu	missense variant	-	NC_000008.11:g.94411166T>C	ExAC,gnomAD
rs751165466	p.Ser153Pro	missense variant	-	NC_000008.11:g.94411163A>G	ExAC,gnomAD
rs765934381	p.Phe154Leu	missense variant	-	NC_000008.11:g.94411158A>T	ExAC,gnomAD
rs762732325	p.Ile155Met	missense variant	-	NC_000008.11:g.94411155T>C	ExAC,gnomAD
COSM1102572	p.Lys157Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94411149C>A	NCI-TCGA Cosmic
rs1451656403	p.Asn158Lys	missense variant	-	NC_000008.11:g.94411146A>C	gnomAD
rs772564647	p.Glu160Gly	missense variant	-	NC_000008.11:g.94411141T>C	ExAC,gnomAD
rs764774153	p.Lys162Asn	missense variant	-	NC_000008.11:g.94411134T>G	ExAC
rs1403486404	p.Arg166Gly	missense variant	-	NC_000008.11:g.94411124T>C	gnomAD
rs1388705010	p.Gly167Ser	missense variant	-	NC_000008.11:g.94411121C>T	gnomAD
rs1464060633	p.Ile168Thr	missense variant	-	NC_000008.11:g.94407717A>G	gnomAD
rs1205208856	p.Gly169Asp	missense variant	-	NC_000008.11:g.94407714C>T	gnomAD
rs760734988	p.Gly169Ser	missense variant	-	NC_000008.11:g.94407715C>T	ExAC,gnomAD
rs1312379304	p.Tyr170His	missense variant	-	NC_000008.11:g.94407712A>G	gnomAD
NCI-TCGA novel	p.Glu174Ter	stop gained	-	NC_000008.11:g.94407700C>A	NCI-TCGA
rs1217249416	p.Leu175Pro	missense variant	-	NC_000008.11:g.94407696A>G	gnomAD
rs1341463936	p.Glu176Gly	missense variant	-	NC_000008.11:g.94407693T>C	gnomAD
rs775120386	p.Glu180Val	missense variant	-	NC_000008.11:g.94407681T>A	ExAC,gnomAD
rs771952876	p.Gly181Val	missense variant	-	NC_000008.11:g.94407678C>A	ExAC,TOPMed,gnomAD
rs774745162	p.Thr183Ile	missense variant	-	NC_000008.11:g.94407672G>A	ExAC,gnomAD
rs771068379	p.Leu184Val	missense variant	-	NC_000008.11:g.94407670G>C	ExAC,gnomAD
rs1048467257	p.Cys187Tyr	missense variant	-	NC_000008.11:g.94407660C>T	TOPMed
rs1334001142	p.Gly188Arg	missense variant	-	NC_000008.11:g.94407658C>G	gnomAD
rs749364309	p.Glu190Ter	stop gained	-	NC_000008.11:g.94407652C>A	ExAC,gnomAD
rs749364309	p.Glu190Gln	missense variant	-	NC_000008.11:g.94407652C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu192Ter	stop gained	-	NC_000008.11:g.94407646C>A	NCI-TCGA
rs1449351525	p.Met194Ile	missense variant	-	NC_000008.11:g.94407638C>A	gnomAD
rs1169807672	p.Met194Leu	missense variant	-	NC_000008.11:g.94407640T>A	gnomAD
NCI-TCGA novel	p.Gly195Ser	missense variant	-	NC_000008.11:g.94407637C>T	NCI-TCGA
NCI-TCGA novel	p.Val196Ala	missense variant	-	NC_000008.11:g.94407633A>G	NCI-TCGA
rs116574477	p.Val196Ile	missense variant	-	NC_000008.11:g.94407634C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs897160795	p.Pro199Ser	missense variant	-	NC_000008.11:g.94407625G>A	TOPMed
rs748736358	p.Asp200Val	missense variant	-	NC_000008.11:g.94407621T>A	ExAC,TOPMed,gnomAD
rs1483404569	p.Asp201Tyr	missense variant	-	NC_000008.11:g.94407619C>A	gnomAD
rs376304599	p.Ser203Ile	missense variant	-	NC_000008.11:g.94407612C>A	ESP,ExAC,TOPMed,gnomAD
rs750006237	p.Ser204Asn	missense variant	-	NC_000008.11:g.94407609C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly205Ser	missense variant	-	NC_000008.11:g.94407607C>T	NCI-TCGA
rs199681795	p.Cys207Gly	missense variant	-	NC_000008.11:g.94407601A>C	ExAC,gnomAD
rs756964944	p.Cys207Trp	missense variant	-	NC_000008.11:g.94407599A>C	ExAC,gnomAD
rs763702806	p.Gln209Leu	missense variant	-	NC_000008.11:g.94407594T>A	ExAC
rs753345606	p.Gln209Ter	stop gained	-	NC_000008.11:g.94407595G>A	ExAC
rs752704461	p.Gln209His	missense variant	-	NC_000008.11:g.94407593C>A	ExAC
rs759381070	p.Leu210Ile	missense variant	-	NC_000008.11:g.94407592G>T	ExAC
rs759381070	p.Leu210Val	missense variant	-	NC_000008.11:g.94407592G>C	ExAC
rs139411957	p.Leu210Pro	missense variant	-	NC_000008.11:g.94407591A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150711132	p.Gly211Ter	stop gained	-	NC_000008.11:g.94407589C>A	ESP,ExAC,gnomAD
rs150711132	p.Gly211Arg	missense variant	-	NC_000008.11:g.94407589C>T	ESP,ExAC,gnomAD
rs1283834883	p.Gly211Val	missense variant	-	NC_000008.11:g.94407588C>A	gnomAD
rs931804254	p.Gly213Arg	missense variant	-	NC_000008.11:g.94407583C>T	TOPMed
rs773402115	p.Thr215Ile	missense variant	-	NC_000008.11:g.94407576G>A	ExAC,TOPMed,gnomAD
rs769937741	p.Ile217Thr	missense variant	-	NC_000008.11:g.94407570A>G	ExAC,gnomAD
rs748561168	p.Ser218Trp	missense variant	-	NC_000008.11:g.94407567G>C	ExAC,TOPMed,gnomAD
rs748561168	p.Ser218Leu	missense variant	-	NC_000008.11:g.94407567G>A	ExAC,TOPMed,gnomAD
rs1369075231	p.His219Tyr	missense variant	-	NC_000008.11:g.94407565G>A	TOPMed
NCI-TCGA novel	p.Ser220Tyr	missense variant	-	NC_000008.11:g.94407561G>T	NCI-TCGA
rs747364535	p.Ser220Phe	missense variant	-	NC_000008.11:g.94407561G>A	ExAC,gnomAD
rs1031066806	p.Ser221Cys	missense variant	-	NC_000008.11:g.94407558G>C	TOPMed
rs1412367279	p.Ala224Thr	missense variant	-	NC_000008.11:g.94407550C>T	gnomAD
NCI-TCGA novel	p.Cys227Arg	missense variant	-	NC_000008.11:g.94407541A>G	NCI-TCGA
COSM3779421	p.Cys227Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94407540C>T	NCI-TCGA Cosmic
rs1443440448	p.Phe228Ser	missense variant	-	NC_000008.11:g.94407537A>G	TOPMed
COSM3835159	p.Ser229Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94407534G>C	NCI-TCGA Cosmic
rs756874755	p.Asn230Lys	missense variant	-	NC_000008.11:g.94407530G>T	ExAC,TOPMed,gnomAD
rs748992142	p.Pro231Leu	missense variant	-	NC_000008.11:g.94407528G>A	ExAC,TOPMed,gnomAD
rs971378088	p.Phe232Leu	missense variant	-	NC_000008.11:g.94407526A>G	TOPMed,gnomAD
COSM3902140	p.Lys233Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94407521T>G	NCI-TCGA Cosmic
rs1482071910	p.Ser234Asn	missense variant	-	NC_000008.11:g.94407519C>T	gnomAD
rs148201396	p.Pro238Ser	missense variant	-	NC_000008.11:g.94407508G>A	ESP,ExAC,TOPMed,gnomAD
rs1319131077	p.Ser239Ile	missense variant	-	NC_000008.11:g.94407504C>A	TOPMed
rs111586647	p.Lys241Thr	missense variant	-	NC_000008.11:g.94407498T>G	gnomAD
NCI-TCGA novel	p.Asn243IlePheSerTerUnkUnk	frameshift	-	NC_000008.11:g.94407492T>-	NCI-TCGA
rs1012331110	p.Arg244Gly	missense variant	-	NC_000008.11:g.94407490T>C	TOPMed
rs752510024	p.Asn250Ser	missense variant	-	NC_000008.11:g.94407471T>C	ExAC,TOPMed,gnomAD
rs1458819891	p.Lys252Glu	missense variant	-	NC_000008.11:g.94407466T>C	gnomAD
rs766325819	p.Arg254Leu	missense variant	-	NC_000008.11:g.94407459C>A	ExAC,TOPMed,gnomAD
rs766325819	p.Arg254His	missense variant	-	NC_000008.11:g.94407459C>T	ExAC,TOPMed,gnomAD
rs376870498	p.Arg254Cys	missense variant	-	NC_000008.11:g.94407460G>A	ESP,ExAC,TOPMed,gnomAD
rs376919776	p.Thr259Met	missense variant	-	NC_000008.11:g.94407444G>A	ESP,ExAC,TOPMed,gnomAD
rs376919776	p.Thr259Arg	missense variant	-	NC_000008.11:g.94407444G>C	ESP,ExAC,TOPMed,gnomAD
rs899296422	p.Asn261Thr	missense variant	-	NC_000008.11:g.94404239T>G	TOPMed,gnomAD
rs1248667343	p.Val264Phe	missense variant	-	NC_000008.11:g.94404231C>A	TOPMed,gnomAD
rs1248667343	p.Val264Ile	missense variant	-	NC_000008.11:g.94404231C>T	TOPMed,gnomAD
rs750549188	p.Met265Thr	missense variant	-	NC_000008.11:g.94404227A>G	ExAC,TOPMed,gnomAD
rs765482000	p.Pro266Leu	missense variant	-	NC_000008.11:g.94404224G>A	ExAC,gnomAD
rs534637551	p.Arg267Ter	stop gained	-	NC_000008.11:g.94404222G>A	1000Genomes,ExAC,gnomAD
rs764212601	p.Arg267Gln	missense variant	-	NC_000008.11:g.94404221C>T	ExAC,TOPMed,gnomAD
rs761125809	p.Lys270Glu	missense variant	-	NC_000008.11:g.94404213T>C	ExAC,gnomAD
NCI-TCGA novel	p.His272Arg	missense variant	-	NC_000008.11:g.94404206T>C	NCI-TCGA
rs1464812250	p.Trp274Ter	stop gained	-	NC_000008.11:g.94404199C>T	TOPMed,gnomAD
rs776009216	p.Trp274Ter	stop gained	-	NC_000008.11:g.94404200C>T	ExAC,TOPMed,gnomAD
rs772356631	p.Val275Ile	missense variant	-	NC_000008.11:g.94404198C>T	ExAC,TOPMed,gnomAD
rs774638198	p.Asn277Ser	missense variant	-	NC_000008.11:g.94404191T>C	ExAC,TOPMed,gnomAD
rs769456070	p.Lys278Asn	missense variant	-	NC_000008.11:g.94404187C>A	ExAC
rs1465362258	p.Asn279Lys	missense variant	-	NC_000008.11:g.94404184G>C	gnomAD
rs138076805	p.Val284Met	missense variant	-	NC_000008.11:g.94404171C>T	ESP,ExAC,gnomAD
rs780703541	p.Asp285Glu	missense variant	-	NC_000008.11:g.94404166A>C	ExAC,gnomAD
rs1383850542	p.Val286Leu	missense variant	-	NC_000008.11:g.94404165C>G	TOPMed
rs988904367	p.Pro290Thr	missense variant	-	NC_000008.11:g.94404153G>T	TOPMed,gnomAD
rs202107104	p.Pro290Leu	missense variant	-	NC_000008.11:g.94404152G>A	ExAC,gnomAD
rs955748092	p.Leu292Phe	missense variant	-	NC_000008.11:g.94404147G>A	TOPMed,gnomAD
COSM4511875	p.His295Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94404138G>A	NCI-TCGA Cosmic
rs373973462	p.Arg297Ter	stop gained	-	NC_000008.11:g.94404132G>A	ESP,ExAC,TOPMed,gnomAD
rs1032740646	p.Arg297Gln	missense variant	-	NC_000008.11:g.94404131C>T	TOPMed,gnomAD
rs201184182	p.Lys301Glu	missense variant	-	NC_000008.11:g.94404120T>C	1000Genomes,ExAC,gnomAD
rs1207972154	p.Glu302Gln	missense variant	-	NC_000008.11:g.94404117C>G	gnomAD
rs1343469716	p.Gly303Glu	missense variant	-	NC_000008.11:g.94404113C>T	gnomAD
rs199862292	p.Gly303Arg	missense variant	-	NC_000008.11:g.94404114C>T	gnomAD
rs1395149477	p.Phe306Leu	missense variant	-	NC_000008.11:g.94404103G>C	TOPMed
NCI-TCGA novel	p.Glu309Ter	stop gained	-	NC_000008.11:g.94404096C>A	NCI-TCGA
rs757481083	p.Cys310Tyr	missense variant	-	NC_000008.11:g.94404092C>T	ExAC,TOPMed,gnomAD
rs764122781	p.Met312Thr	missense variant	-	NC_000008.11:g.94404086A>G	ExAC,gnomAD
rs754033675	p.Met312Val	missense variant	-	NC_000008.11:g.94404087T>C	ExAC,TOPMed,gnomAD
rs760749654	p.Gly313Val	missense variant	-	NC_000008.11:g.94404083C>A	ExAC,gnomAD
rs76070333	p.Met314Leu	missense variant	-	NC_000008.11:g.94404081T>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1369873171	p.Arg315Thr	missense variant	-	NC_000008.11:g.94404077C>G	gnomAD
rs148896143	p.Arg319Thr	missense variant	-	NC_000008.11:g.94400452C>G	ESP,ExAC,TOPMed,gnomAD
rs959256302	p.Arg319Ser	missense variant	-	NC_000008.11:g.94400451T>A	TOPMed
rs148896143	p.Arg319Ile	missense variant	-	NC_000008.11:g.94400452C>A	ESP,ExAC,TOPMed,gnomAD
rs148896143	p.Arg319Lys	missense variant	-	NC_000008.11:g.94400452C>T	ESP,ExAC,TOPMed,gnomAD
rs757037716	p.Cys320Tyr	missense variant	-	NC_000008.11:g.94400449C>T	ExAC,gnomAD
rs1473130820	p.Cys320Arg	missense variant	-	NC_000008.11:g.94400450A>G	gnomAD
rs1180320431	p.Ala322Gly	missense variant	-	NC_000008.11:g.94400443G>C	gnomAD
rs376810684	p.Ile323Thr	missense variant	-	NC_000008.11:g.94400440A>G	ESP,ExAC,TOPMed,gnomAD
rs1267495961	p.Ala325Val	missense variant	-	NC_000008.11:g.94400434G>A	gnomAD
rs1208723907	p.Asp326Val	missense variant	-	NC_000008.11:g.94400431T>A	gnomAD
NCI-TCGA novel	p.Glu327Lys	missense variant	-	NC_000008.11:g.94400429C>T	NCI-TCGA
rs777985585	p.Glu327Gln	missense variant	-	NC_000008.11:g.94400429C>G	ExAC,gnomAD
NCI-TCGA novel	p.Met328Ile	missense variant	-	NC_000008.11:g.94400424C>T	NCI-TCGA
rs1269646949	p.Gly331Ala	missense variant	-	NC_000008.11:g.94400416C>G	gnomAD
rs1161091998	p.Lys332Arg	missense variant	-	NC_000008.11:g.94400413T>C	TOPMed
rs145642488	p.Thr333Ala	missense variant	-	NC_000008.11:g.94400411T>C	ESP,ExAC,gnomAD
rs767631515	p.Thr333Ile	missense variant	-	NC_000008.11:g.94400410G>A	ExAC
rs1170682179	p.Leu334Phe	missense variant	-	NC_000008.11:g.94400406C>G	TOPMed
rs752037673	p.Leu334Ter	stop gained	-	NC_000008.11:g.94400407A>T	ExAC,TOPMed,gnomAD
rs752037673	p.Leu334Ser	missense variant	-	NC_000008.11:g.94400407A>G	ExAC,TOPMed,gnomAD
rs752037673	p.Leu334Trp	missense variant	-	NC_000008.11:g.94400407A>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Cys336Gly	missense variant	-	NC_000008.11:g.94400402A>C	NCI-TCGA
rs766698371	p.Cys336Tyr	missense variant	-	NC_000008.11:g.94400401C>T	ExAC,gnomAD
rs367836964	p.Ser338Leu	missense variant	-	NC_000008.11:g.94400395G>A	ESP,ExAC,TOPMed
rs1161676427	p.Leu343Val	missense variant	-	NC_000008.11:g.94400381G>C	gnomAD
rs775121036	p.Gln344Arg	missense variant	-	NC_000008.11:g.94400377T>C	ExAC,gnomAD
rs771506985	p.Gly347Arg	missense variant	-	NC_000008.11:g.94400369C>T	ExAC,gnomAD
rs1479329970	p.Pro348Ser	missense variant	-	NC_000008.11:g.94400366G>A	gnomAD
rs183468109	p.Tyr349Ter	stop gained	-	NC_000008.11:g.94400361A>C	ExAC,gnomAD
rs115402369	p.Gly350Glu	missense variant	-	NC_000008.11:g.94400359C>T	1000Genomes,ExAC,gnomAD
rs1466771386	p.Gly351Ser	missense variant	-	NC_000008.11:g.94400357C>T	gnomAD
rs777613400	p.Gly351Asp	missense variant	-	NC_000008.11:g.94400356C>T	ExAC,gnomAD
rs1464146004	p.Pro353Ser	missense variant	-	NC_000008.11:g.94400351G>A	gnomAD
NCI-TCGA novel	p.Leu359Pro	missense variant	-	NC_000008.11:g.94400332A>G	NCI-TCGA
rs1408230776	p.Ile360Val	missense variant	-	NC_000008.11:g.94400330T>C	TOPMed
NCI-TCGA novel	p.Pro363Ser	missense variant	-	NC_000008.11:g.94400321G>A	NCI-TCGA
rs781207122	p.Pro363Arg	missense variant	-	NC_000008.11:g.94400320G>C	ExAC,gnomAD
rs373977494	p.Asn368Ser	missense variant	-	NC_000008.11:g.94400305T>C	ESP,ExAC,TOPMed,gnomAD
rs1336671905	p.Asn368His	missense variant	-	NC_000008.11:g.94400306T>G	TOPMed
rs1254727038	p.Asn369Thr	missense variant	-	NC_000008.11:g.94400302T>G	TOPMed
rs1350637023	p.Trp370Ter	stop gained	-	NC_000008.11:g.94400299C>T	TOPMed
rs781224724	p.Trp370Ter	stop gained	-	NC_000008.11:g.94400298C>T	-
NCI-TCGA novel	p.Lys372Asn	missense variant	-	NC_000008.11:g.94400292T>G	NCI-TCGA
rs1436149413	p.Lys372Glu	missense variant	-	NC_000008.11:g.94400294T>C	gnomAD
COSM6114051	p.Lys372Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94400292T>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu373Ter	stop gained	-	NC_000008.11:g.94400291C>A	NCI-TCGA
rs1453083831	p.Gly379Glu	missense variant	-	NC_000008.11:g.94400272C>T	TOPMed,gnomAD
rs1178505247	p.Ser380Ile	missense variant	-	NC_000008.11:g.94400269C>A	TOPMed
rs1391535077	p.Ile383Phe	missense variant	-	NC_000008.11:g.94400261T>A	gnomAD
NCI-TCGA novel	p.Lys384Asn	missense variant	-	NC_000008.11:g.94400256C>A	NCI-TCGA
rs1188627811	p.Lys384Glu	missense variant	-	NC_000008.11:g.94400258T>C	TOPMed,gnomAD
rs750783757	p.Ile385Met	missense variant	-	NC_000008.11:g.94400253T>C	ExAC,gnomAD
rs1448571300	p.Ile385Val	missense variant	-	NC_000008.11:g.94400255T>C	gnomAD
rs200604082	p.Thr387Ile	missense variant	-	NC_000008.11:g.94400248G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Val388Ile	missense variant	-	NC_000008.11:g.94400246C>T	NCI-TCGA
NCI-TCGA novel	p.Gln390Ter	stop gained	-	NC_000008.11:g.94400240G>A	NCI-TCGA
rs1008814047	p.Asp391Asn	missense variant	-	NC_000008.11:g.94399621C>T	TOPMed
rs971957727	p.Asp391Gly	missense variant	-	NC_000008.11:g.94399620T>C	gnomAD
rs758807263	p.Lys393Arg	missense variant	-	NC_000008.11:g.94399614T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu396Ter	stop gained	-	NC_000008.11:g.94399606C>A	NCI-TCGA
rs1270938719	p.Ile398Val	missense variant	-	NC_000008.11:g.94399600T>C	gnomAD
rs1230292960	p.Ser400Thr	missense variant	-	NC_000008.11:g.94399594A>T	gnomAD
rs1439749949	p.Ile401Met	missense variant	-	NC_000008.11:g.94399589T>C	TOPMed
rs374355978	p.Ile401Val	missense variant	-	NC_000008.11:g.94399591T>C	ESP,TOPMed,gnomAD
rs1293135582	p.Ser404Cys	missense variant	-	NC_000008.11:g.94399581G>C	TOPMed,gnomAD
NCI-TCGA novel	p.Val405Ala	missense variant	-	NC_000008.11:g.94399578A>G	NCI-TCGA
rs750992987	p.Val405Ile	missense variant	-	NC_000008.11:g.94399579C>T	ExAC,TOPMed
rs1413329526	p.Ile407Thr	missense variant	-	NC_000008.11:g.94399572A>G	TOPMed,gnomAD
rs1448309020	p.Ser409Gly	missense variant	-	NC_000008.11:g.94399567T>C	TOPMed
rs1201788285	p.Leu414Phe	missense variant	-	NC_000008.11:g.94399552G>A	TOPMed
rs1201788285	p.Leu414Val	missense variant	-	NC_000008.11:g.94399552G>C	TOPMed
rs562637094	p.Arg415His	missense variant	-	NC_000008.11:g.94399548C>T	ExAC,TOPMed,gnomAD
rs539803935	p.Arg415Cys	missense variant	-	NC_000008.11:g.94399549G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1166258477	p.Leu417Pro	missense variant	-	NC_000008.11:g.94399542A>G	gnomAD
RCV000005993	p.Asp418Tyr	missense variant	Carcinoma of colon (CRC)	NC_000008.11:g.94399540C>A	ClinVar
rs119490107	p.Asp418Tyr	missense variant	-	NC_000008.11:g.94399540C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile420Met	missense variant	-	NC_000008.11:g.94399532A>C	NCI-TCGA
rs773704992	p.Lys421Asn	missense variant	-	NC_000008.11:g.94399529C>A	ExAC,gnomAD
rs1443039735	p.Ile423Met	missense variant	-	NC_000008.11:g.94399523T>C	TOPMed
rs1162261667	p.Ile423Val	missense variant	-	NC_000008.11:g.94399525T>C	gnomAD
rs765965378	p.Leu428Val	missense variant	-	NC_000008.11:g.94399510G>C	ExAC,gnomAD
rs1181421042	p.Ile429Thr	missense variant	-	NC_000008.11:g.94399506A>G	gnomAD
NCI-TCGA novel	p.Asp431Asn	missense variant	-	NC_000008.11:g.94399501C>T	NCI-TCGA
rs35235038	p.Asp431Glu	missense variant	-	NC_000008.11:g.94399499G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs776551512	p.Glu432Lys	missense variant	-	NC_000008.11:g.94399498C>T	ExAC,gnomAD
rs768725152	p.Glu432Ala	missense variant	-	NC_000008.11:g.94399497T>G	ExAC,TOPMed,gnomAD
rs776551512	p.Glu432Gln	missense variant	-	NC_000008.11:g.94399498C>G	ExAC,gnomAD
COSM198806	p.Glu432Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94399498C>A	NCI-TCGA Cosmic
rs1272798352	p.Gly433Val	missense variant	-	NC_000008.11:g.94399494C>A	gnomAD
rs779946446	p.His434Asn	missense variant	-	NC_000008.11:g.94399492G>T	ExAC,gnomAD
rs772311368	p.Arg435Cys	missense variant	-	NC_000008.11:g.94399489G>A	ExAC,TOPMed,gnomAD
rs746313459	p.Arg435His	missense variant	-	NC_000008.11:g.94399488C>T	ExAC,TOPMed,gnomAD
rs772311368	p.Arg435Ser	missense variant	-	NC_000008.11:g.94399489G>T	ExAC,TOPMed,gnomAD
rs779581082	p.Ser439Arg	missense variant	-	NC_000008.11:g.94399475A>C	ExAC,gnomAD
rs1371789954	p.Ser439Asn	missense variant	-	NC_000008.11:g.94399476C>T	gnomAD
rs757897401	p.Thr443Lys	missense variant	-	NC_000008.11:g.94399464G>T	ExAC,gnomAD
rs1393038771	p.Thr444Ala	missense variant	-	NC_000008.11:g.94399462T>C	gnomAD
rs754150106	p.Thr445Ile	missense variant	-	NC_000008.11:g.94399458G>A	ExAC,TOPMed,gnomAD
rs1412507501	p.Ala446Asp	missense variant	-	NC_000008.11:g.94399455G>T	gnomAD
rs1254223926	p.Ala446Thr	missense variant	-	NC_000008.11:g.94399456C>T	TOPMed
rs754567049	p.Ser449Gly	missense variant	-	NC_000008.11:g.94399447T>C	ExAC,gnomAD
rs1446907916	p.Cys452Tyr	missense variant	-	NC_000008.11:g.94399437C>T	TOPMed
rs902175391	p.Glu453Lys	missense variant	-	NC_000008.11:g.94399435C>T	TOPMed
rs1427188544	p.Leu458Pro	missense variant	-	NC_000008.11:g.94399419A>G	TOPMed,gnomAD
rs576696900	p.Thr459Asn	missense variant	-	NC_000008.11:g.94399416G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs576696900	p.Thr459Ile	missense variant	-	NC_000008.11:g.94399416G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs749850768	p.Asp466Tyr	missense variant	-	NC_000008.11:g.94393865C>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu467Met	missense variant	-	NC_000008.11:g.94393862G>T	NCI-TCGA
rs376928944	p.Gln468Glu	missense variant	-	NC_000008.11:g.94393859G>C	ESP,TOPMed,gnomAD
rs1362063047	p.Glu469Ter	stop gained	-	NC_000008.11:g.94393856C>A	TOPMed
COSM6114052	p.Glu469Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94393856C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Leu473ValHisThr	insertion	-	NC_000008.11:g.94393841_94393842insAGTGTGAAC	NCI-TCGA
NCI-TCGA novel	p.Leu473ArgValHisThr	insertion	-	NC_000008.11:g.94393840_94393841insTAGTGTGAACTC	NCI-TCGA
rs756504297	p.Ile474Thr	missense variant	-	NC_000008.11:g.94393840A>G	ExAC,gnomAD
NCI-TCGA novel	p.Asp475His	missense variant	-	NC_000008.11:g.94393838C>G	NCI-TCGA
rs751114628	p.Phe476Ser	missense variant	-	NC_000008.11:g.94393834A>G	ExAC,TOPMed,gnomAD
rs779667058	p.Val477Leu	missense variant	-	NC_000008.11:g.94393832C>G	ExAC,TOPMed,gnomAD
rs779667058	p.Val477Ile	missense variant	-	NC_000008.11:g.94393832C>T	ExAC,TOPMed,gnomAD
rs1365218439	p.Asn478Lys	missense variant	-	NC_000008.11:g.94393827A>T	gnomAD
rs1380126704	p.Pro479Gln	missense variant	-	NC_000008.11:g.94393825G>T	gnomAD
rs1294436700	p.Pro479Ser	missense variant	-	NC_000008.11:g.94393826G>A	gnomAD
rs1206427350	p.Ile481Met	missense variant	-	NC_000008.11:g.94393818T>C	TOPMed
rs1381119672	p.Leu482Ser	missense variant	-	NC_000008.11:g.94393816A>G	gnomAD
rs758113509	p.Gly483Ser	missense variant	-	NC_000008.11:g.94393814C>T	ExAC,gnomAD
rs1447371288	p.Gly483Val	missense variant	-	NC_000008.11:g.94393813C>A	TOPMed,gnomAD
rs749899840	p.Ser484Pro	missense variant	-	NC_000008.11:g.94393811A>G	ExAC,gnomAD
rs764772460	p.Ser484Phe	missense variant	-	NC_000008.11:g.94393810G>A	ExAC,TOPMed,gnomAD
rs764772460	p.Ser484Tyr	missense variant	-	NC_000008.11:g.94393810G>T	ExAC,TOPMed,gnomAD
rs1170337255	p.Leu485Ser	missense variant	-	NC_000008.11:g.94393807A>G	gnomAD
rs1170337255	p.Leu485Ter	stop gained	-	NC_000008.11:g.94393807A>T	gnomAD
rs1373668057	p.Ser486Leu	missense variant	-	NC_000008.11:g.94393804G>A	gnomAD
rs1249669727	p.Ser487Pro	missense variant	-	NC_000008.11:g.94393802A>G	gnomAD
rs972336249	p.Tyr488His	missense variant	-	NC_000008.11:g.94393799A>G	TOPMed
rs761603314	p.Tyr488Cys	missense variant	-	NC_000008.11:g.94393798T>C	ExAC,gnomAD
rs199932533	p.Arg489Gly	missense variant	-	NC_000008.11:g.94393796T>C	TOPMed,gnomAD
rs966732970	p.Ile491Val	missense variant	-	NC_000008.11:g.94393790T>C	TOPMed,gnomAD
rs1025411461	p.Tyr492Cys	missense variant	-	NC_000008.11:g.94393786T>C	gnomAD
rs1025411461	p.Tyr492Phe	missense variant	-	NC_000008.11:g.94393786T>A	gnomAD
NCI-TCGA novel	p.Glu493Gly	missense variant	-	NC_000008.11:g.94393783T>C	NCI-TCGA
rs760535639	p.Pro495Ser	missense variant	-	NC_000008.11:g.94393778G>A	ExAC,TOPMed,gnomAD
rs1250232678	p.Ile497Met	missense variant	-	NC_000008.11:g.94393770A>C	gnomAD
rs1224845227	p.Leu498Ser	missense variant	-	NC_000008.11:g.94393768A>G	gnomAD
rs767848832	p.Ser499Leu	missense variant	-	NC_000008.11:g.94393765G>A	ExAC,TOPMed,gnomAD
rs774551093	p.Pro502Ala	missense variant	-	NC_000008.11:g.94393757G>C	ExAC,gnomAD
rs771158536	p.Ser505Thr	missense variant	-	NC_000008.11:g.94393748A>T	ExAC,TOPMed,gnomAD
rs759784577	p.Glu507Gly	missense variant	-	NC_000008.11:g.94391898T>C	ExAC,TOPMed,gnomAD
rs1289961970	p.Lys509Asn	missense variant	-	NC_000008.11:g.94391891C>G	gnomAD
rs774747199	p.Glu510Lys	missense variant	-	NC_000008.11:g.94391890C>T	ExAC,TOPMed,gnomAD
rs1340475525	p.Leu511Phe	missense variant	-	NC_000008.11:g.94391885T>G	gnomAD
rs1335092883	p.Gly512Arg	missense variant	-	NC_000008.11:g.94391884C>T	gnomAD
rs115960331	p.Ala516Thr	missense variant	-	NC_000008.11:g.94391872C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773230568	p.Glu518Ter	stop gained	-	NC_000008.11:g.94391866C>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly524ThrPheSerTerUnk	frameshift	-	NC_000008.11:g.94391848_94391849CA>-	NCI-TCGA
rs1197534943	p.Gly524Arg	missense variant	-	NC_000008.11:g.94391848C>T	TOPMed
rs769036795	p.Leu525Arg	missense variant	-	NC_000008.11:g.94391844A>C	ExAC,TOPMed,gnomAD
rs1363734194	p.Ile527Asn	missense variant	-	NC_000008.11:g.94391838A>T	gnomAD
COSM1102567	p.Arg530Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391829C>A	NCI-TCGA Cosmic
rs1180211377	p.Thr531Ile	missense variant	-	NC_000008.11:g.94391826G>A	gnomAD
rs889436607	p.Thr531Ala	missense variant	-	NC_000008.11:g.94391827T>C	TOPMed
NCI-TCGA novel	p.Glu533Gly	missense variant	-	NC_000008.11:g.94391820T>C	NCI-TCGA
rs1253035201	p.Glu533Ter	stop gained	-	NC_000008.11:g.94391821C>A	gnomAD
rs114863350	p.Ile534Val	missense variant	-	NC_000008.11:g.94391818T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1466849498	p.Ile535Met	missense variant	-	NC_000008.11:g.94391813T>C	gnomAD
NCI-TCGA novel	p.Asn536Thr	missense variant	-	NC_000008.11:g.94391811T>G	NCI-TCGA
rs1269860613	p.Lys537Gln	missense variant	-	NC_000008.11:g.94391809T>G	gnomAD
rs778552591	p.Tyr538Cys	missense variant	-	NC_000008.11:g.94391805T>C	ExAC,gnomAD
rs777193156	p.Leu539Pro	missense variant	-	NC_000008.11:g.94391802A>G	ExAC,gnomAD
rs777193156	p.Leu539His	missense variant	-	NC_000008.11:g.94391802A>T	ExAC,gnomAD
COSM1458701	p.Leu539Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391803G>T	NCI-TCGA Cosmic
rs756056414	p.Glu544Val	missense variant	-	NC_000008.11:g.94391787T>A	ExAC,gnomAD
rs552710324	p.Val546Ile	missense variant	-	NC_000008.11:g.94391782C>T	TOPMed,gnomAD
rs370200886	p.Cys549Arg	missense variant	-	NC_000008.11:g.94391773A>G	ESP,ExAC,TOPMed,gnomAD
rs377463964	p.Arg550Ter	stop gained	-	NC_000008.11:g.94391770G>A	ESP,TOPMed,gnomAD
rs1028681710	p.Arg550Gln	missense variant	-	NC_000008.11:g.94391769C>T	TOPMed
NCI-TCGA novel	p.Ala553Glu	missense variant	-	NC_000008.11:g.94391760G>T	NCI-TCGA
rs1341901157	p.Ala553Val	missense variant	-	NC_000008.11:g.94391760G>A	TOPMed
rs1192463388	p.Gln555His	missense variant	-	NC_000008.11:g.94391753C>A	gnomAD
rs1451961350	p.Ile556Val	missense variant	-	NC_000008.11:g.94391752T>C	gnomAD
rs1321861559	p.Glu557Gly	missense variant	-	NC_000008.11:g.94391748T>C	gnomAD
rs1388540840	p.Arg560Gln	missense variant	-	NC_000008.11:g.94391739C>T	TOPMed,gnomAD
rs1042539559	p.Arg560Gly	missense variant	-	NC_000008.11:g.94391740G>C	TOPMed,gnomAD
rs1042539559	p.Arg560Ter	stop gained	-	NC_000008.11:g.94391740G>A	TOPMed,gnomAD
rs765254556	p.Leu562Met	missense variant	-	NC_000008.11:g.94391734G>T	ExAC,gnomAD
rs750682378	p.Leu563Ter	stop gained	-	NC_000008.11:g.94391730A>C	gnomAD
rs1281206988	p.Asn564Lys	missense variant	-	NC_000008.11:g.94391726A>T	gnomAD
COSM3432627	p.Ser565Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391724G>T	NCI-TCGA Cosmic
rs1452779266	p.Arg569Gly	missense variant	-	NC_000008.11:g.94391713T>C	TOPMed
COSM1489481	p.Cys571Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391706C>T	NCI-TCGA Cosmic
rs762266846	p.Gly574Arg	missense variant	-	NC_000008.11:g.94391698C>T	ExAC,gnomAD
rs541067226	p.Gly574Glu	missense variant	-	NC_000008.11:g.94391697C>T	ExAC,gnomAD
COSM6114053	p.Gly574Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391698C>A	NCI-TCGA Cosmic
rs1326250166	p.Leu575Phe	missense variant	-	NC_000008.11:g.94391693C>A	gnomAD
NCI-TCGA novel	p.Ser579GlnPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.94391683_94391684insG	NCI-TCGA
NCI-TCGA novel	p.Ser579Arg	missense variant	-	NC_000008.11:g.94391681A>C	NCI-TCGA
rs1416718367	p.His581Arg	missense variant	-	NC_000008.11:g.94391676T>C	gnomAD
rs539612727	p.Leu582Pro	missense variant	-	NC_000008.11:g.94391673A>G	ExAC,TOPMed,gnomAD
rs1432355712	p.Ile583Leu	missense variant	-	NC_000008.11:g.94391671T>A	gnomAD
rs534023829	p.Cys584Ser	missense variant	-	NC_000008.11:g.94391668A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200865822	p.Cys584Tyr	missense variant	-	NC_000008.11:g.94391667C>T	ExAC,gnomAD
rs748945909	p.Ile585Thr	missense variant	-	NC_000008.11:g.94391664A>G	ExAC,gnomAD
COSM3413167	p.Ile585Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94391665T>A	NCI-TCGA Cosmic
COSM1643660	p.Lys590AsnPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94391648T>-	NCI-TCGA Cosmic
NCI-TCGA novel	p.Cys592GlnPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.94391643_94391644CA>-	NCI-TCGA
NCI-TCGA novel	p.Cys592Ter	stop gained	-	NC_000008.11:g.94391642G>T	NCI-TCGA
rs777292305	p.Cys592Tyr	missense variant	-	NC_000008.11:g.94391643C>T	ExAC,TOPMed,gnomAD
RCV000005992	p.Asn593Ser	missense variant	Non-Hodgkin lymphoma (NHL)	NC_000008.11:g.94391640T>C	ClinVar
rs114216685	p.Asn593Ser	missense variant	-	NC_000008.11:g.94391640T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs114216685	p.Asn593Ser	missense variant	-	NC_000008.11:g.94391640T>C	UniProt,dbSNP
VAR_019564	p.Asn593Ser	missense variant	-	NC_000008.11:g.94391640T>C	UniProt
rs748034453	p.His594Tyr	missense variant	-	NC_000008.11:g.94391638G>A	ExAC,gnomAD
NCI-TCGA novel	p.Pro595Leu	missense variant	-	NC_000008.11:g.94391634G>A	NCI-TCGA
rs781258984	p.Cys596Ser	missense variant	-	NC_000008.11:g.94391631C>G	ExAC
rs755030426	p.Leu598Ser	missense variant	-	NC_000008.11:g.94391625A>G	ExAC,gnomAD
rs113116729	p.Asn600Thr	missense variant	-	NC_000008.11:g.94391619T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs113116729	p.Asn600Ser	missense variant	-	NC_000008.11:g.94391619T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758598200	p.Ile602Val	missense variant	-	NC_000008.11:g.94391614T>C	ExAC,gnomAD
rs1300230969	p.Lys603Arg	missense variant	-	NC_000008.11:g.94391610T>C	TOPMed
rs546052522	p.Glu604Lys	missense variant	-	NC_000008.11:g.94387159C>T	1000Genomes,ExAC,gnomAD
rs750599224	p.Glu604Gly	missense variant	-	NC_000008.11:g.94387158T>C	ExAC,gnomAD
rs1352207468	p.Cys607Tyr	missense variant	-	NC_000008.11:g.94387149C>T	gnomAD
rs114436457	p.Thr610Pro	missense variant	-	NC_000008.11:g.94387141T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs757543354	p.Lys613Glu	missense variant	-	NC_000008.11:g.94387132T>C	ExAC,gnomAD
rs753884611	p.Lys613Thr	missense variant	-	NC_000008.11:g.94387131T>G	ExAC,gnomAD
COSM1102566	p.Lys613Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94387130T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asn614His	missense variant	-	NC_000008.11:g.94387129T>G	NCI-TCGA
rs764208607	p.Asn614Ser	missense variant	-	NC_000008.11:g.94387128T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu616Ter	stop gained	-	NC_000008.11:g.94387123C>A	NCI-TCGA
rs1473413129	p.Glu616Lys	missense variant	-	NC_000008.11:g.94387123C>T	gnomAD
rs948975996	p.Lys617Glu	missense variant	-	NC_000008.11:g.94387120T>C	TOPMed
COSM4912085	p.Lys617Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94387119T>C	NCI-TCGA Cosmic
rs1176503783	p.Lys617Asn	missense variant	-	NC_000008.11:g.94387118C>G	TOPMed,gnomAD
rs1002817348	p.Ser618Asn	missense variant	-	NC_000008.11:g.94387116C>T	TOPMed
rs753180163	p.Leu619Gln	missense variant	-	NC_000008.11:g.94387113A>T	ExAC,gnomAD
rs563442225	p.Lys621Arg	missense variant	-	NC_000008.11:g.94387107T>C	1000Genomes
COSM1102565	p.Leu624Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94387098A>T	NCI-TCGA Cosmic
rs1326861595	p.Asp630Glu	missense variant	-	NC_000008.11:g.94387079G>C	TOPMed
rs144828525	p.Asp630Val	missense variant	-	NC_000008.11:g.94387080T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs144828525	p.Asp630Gly	missense variant	-	NC_000008.11:g.94387080T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1399816378	p.Tyr631Ter	stop gained	-	NC_000008.11:g.94387076G>C	TOPMed,gnomAD
rs761603651	p.Asn632Asp	missense variant	-	NC_000008.11:g.94387075T>C	ExAC,gnomAD
rs776228031	p.Asn632Ser	missense variant	-	NC_000008.11:g.94387074T>C	ExAC,TOPMed,gnomAD
rs919974591	p.Pro633Ser	missense variant	-	NC_000008.11:g.94387072G>A	TOPMed
rs768313103	p.Glu640Asp	missense variant	-	NC_000008.11:g.94387049C>G	ExAC,TOPMed,gnomAD
rs1323411136	p.Gly642Glu	missense variant	-	NC_000008.11:g.94387044C>T	gnomAD
rs149443901	p.Leu644Val	missense variant	-	NC_000008.11:g.94387039G>C	1000Genomes,ESP,ExAC,TOPMed
rs775301215	p.Gln645Ter	stop gained	-	NC_000008.11:g.94387036G>A	ExAC,TOPMed,gnomAD
rs772103978	p.Val646Met	missense variant	-	NC_000008.11:g.94387033C>T	ExAC,gnomAD
rs1173900820	p.Leu647Ser	missense variant	-	NC_000008.11:g.94387029A>G	gnomAD
rs1264084043	p.Lys649Arg	missense variant	-	NC_000008.11:g.94387023T>C	TOPMed
rs1398862397	p.Lys649Gln	missense variant	-	NC_000008.11:g.94387024T>G	gnomAD
NCI-TCGA novel	p.Leu650Ile	missense variant	-	NC_000008.11:g.94387021G>T	NCI-TCGA
NCI-TCGA novel	p.Ala652Thr	missense variant	-	NC_000008.11:g.94387015C>T	NCI-TCGA
rs757450496	p.Ala652Val	missense variant	-	NC_000008.11:g.94387014G>A	ExAC,gnomAD
rs777795099	p.Val653Ala	missense variant	-	NC_000008.11:g.94387011A>G	ExAC,gnomAD
rs1454713083	p.Val653Phe	missense variant	-	NC_000008.11:g.94387012C>A	TOPMed,gnomAD
rs1454713083	p.Val653Ile	missense variant	-	NC_000008.11:g.94387012C>T	TOPMed,gnomAD
rs753192961	p.Ile654Thr	missense variant	-	NC_000008.11:g.94387008A>G	ExAC,gnomAD
rs571848774	p.Ile654Val	missense variant	-	NC_000008.11:g.94387009T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs755545442	p.His655Gln	missense variant	-	NC_000008.11:g.94387004G>C	ExAC,TOPMed,gnomAD
rs375934106	p.Glu656Lys	missense variant	-	NC_000008.11:g.94387003C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1281926772	p.Leu657Pro	missense variant	-	NC_000008.11:g.94386999A>G	gnomAD
rs766867669	p.Arg658Pro	missense variant	-	NC_000008.11:g.94386996C>G	ExAC,TOPMed,gnomAD
rs1007531071	p.Arg658Ter	stop gained	-	NC_000008.11:g.94386997G>A	TOPMed,gnomAD
rs766867669	p.Arg658Gln	missense variant	-	NC_000008.11:g.94386996C>T	ExAC,TOPMed,gnomAD
rs776427060	p.Pro659Ala	missense variant	-	NC_000008.11:g.94386994G>C	ExAC,gnomAD
rs760088904	p.Thr660Ile	missense variant	-	NC_000008.11:g.94386990G>A	ExAC,gnomAD
rs767078302	p.Val663Met	missense variant	-	NC_000008.11:g.94380405C>T	ExAC,gnomAD
rs954472489	p.Val664Met	missense variant	-	NC_000008.11:g.94380402C>T	gnomAD
rs954472489	p.Val664Leu	missense variant	-	NC_000008.11:g.94380402C>A	gnomAD
rs759352947	p.Leu665Val	missense variant	-	NC_000008.11:g.94380399A>C	ExAC,gnomAD
rs774280011	p.Val666Ile	missense variant	-	NC_000008.11:g.94380396C>T	ExAC,gnomAD
rs1197045445	p.Tyr669Cys	missense variant	-	NC_000008.11:g.94380386T>C	TOPMed,gnomAD
rs1031441076	p.Thr670Ile	missense variant	-	NC_000008.11:g.94380383G>A	TOPMed
NCI-TCGA novel	p.Gln671PhePheSerTerUnkUnk	frameshift	-	NC_000008.11:g.94380369_94380381TGTTCAAGGTTTG>-	NCI-TCGA
COSM1102564	p.Gln671Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94380381G>A	NCI-TCGA Cosmic
rs1480642610	p.Thr672Ile	missense variant	-	NC_000008.11:g.94380377G>A	gnomAD
rs76782918	p.Asn674Lys	missense variant	-	NC_000008.11:g.94380370G>T	ExAC,TOPMed,gnomAD
rs76782918	p.Asn674Lys	missense variant	-	NC_000008.11:g.94380370G>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu676TyrPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.94380365A>-	NCI-TCGA
rs773028914	p.Gln677Ter	stop gained	-	NC_000008.11:g.94380363G>A	ExAC,gnomAD
rs773028914	p.Gln677Lys	missense variant	-	NC_000008.11:g.94380363G>T	ExAC,gnomAD
rs769882901	p.Gln677Arg	missense variant	-	NC_000008.11:g.94380362T>C	ExAC,gnomAD
rs781089044	p.Glu678Lys	missense variant	-	NC_000008.11:g.94380360C>T	ExAC
COSM1102563	p.Glu678Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94380358T>G	NCI-TCGA Cosmic
rs34588349	p.Val679Leu	missense variant	-	NC_000008.11:g.94380357C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs34588349	p.Val679Ile	missense variant	-	NC_000008.11:g.94380357C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1102562	p.Lys681Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94380350T>G	NCI-TCGA Cosmic
rs147142817	p.Arg682His	missense variant	-	NC_000008.11:g.94380347C>T	ESP,ExAC,TOPMed,gnomAD
rs746694103	p.Arg682Cys	missense variant	-	NC_000008.11:g.94380348G>A	ExAC,TOPMed,gnomAD
rs1177040229	p.Gly684Glu	missense variant	-	NC_000008.11:g.94380341C>T	TOPMed
rs750787729	p.Tyr687Asn	missense variant	-	NC_000008.11:g.94380333A>T	ExAC,TOPMed,gnomAD
rs750787729	p.Tyr687His	missense variant	-	NC_000008.11:g.94380333A>G	ExAC,TOPMed,gnomAD
rs114429430	p.Thr688Ile	missense variant	-	NC_000008.11:g.94380329G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1400780528	p.Asp691Asn	missense variant	-	NC_000008.11:g.94380321C>T	TOPMed
rs1464245315	p.Asp691Glu	missense variant	-	NC_000008.11:g.94380319A>C	gnomAD
rs755673989	p.Pro695Ala	missense variant	-	NC_000008.11:g.94380309G>C	ExAC,gnomAD
rs759103066	p.Ile696Val	missense variant	-	NC_000008.11:g.94380306T>C	ExAC,TOPMed,gnomAD
COSM284448	p.Ile696Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94380306T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser697Pro	missense variant	-	NC_000008.11:g.94380303A>G	NCI-TCGA
rs766302415	p.Gln701Pro	missense variant	-	NC_000008.11:g.94380290T>G	ExAC
rs36093849	p.Val703Ala	missense variant	-	NC_000008.11:g.94380284A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1439309857	p.Asp704Asn	missense variant	-	NC_000008.11:g.94380282C>T	TOPMed
NCI-TCGA novel	p.Gly705Ser	missense variant	-	NC_000008.11:g.94380279C>T	NCI-TCGA
NCI-TCGA novel	p.Asn707Asp	missense variant	-	NC_000008.11:g.94380273T>C	NCI-TCGA
rs138037330	p.Asn707Ser	missense variant	-	NC_000008.11:g.94380272T>C	ESP,TOPMed,gnomAD
rs1469522083	p.His710Arg	missense variant	-	NC_000008.11:g.94380263T>C	gnomAD
rs1212841721	p.Ser712Pro	missense variant	-	NC_000008.11:g.94380258A>G	gnomAD
rs1353923062	p.Ser712Tyr	missense variant	-	NC_000008.11:g.94380257G>T	gnomAD
rs769658383	p.Phe713Ser	missense variant	-	NC_000008.11:g.94380254A>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe714LeuPheSerTerUnk	frameshift	-	NC_000008.11:g.94380250A>-	NCI-TCGA
rs776924419	p.Phe714Leu	missense variant	-	NC_000008.11:g.94380250A>T	ExAC,gnomAD
rs779510802	p.Phe714Ser	missense variant	-	NC_000008.11:g.94380251A>G	ExAC,gnomAD
rs779510802	p.Phe714Cys	missense variant	-	NC_000008.11:g.94380251A>C	ExAC,gnomAD
rs1347094919	p.Ile715Val	missense variant	-	NC_000008.11:g.94380249T>C	TOPMed
rs1285129242	p.Leu717Phe	missense variant	-	NC_000008.11:g.94380241C>A	gnomAD
rs768818746	p.Leu718Val	missense variant	-	NC_000008.11:g.94380240A>C	ExAC,gnomAD
COSM3779420	p.Ser720Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94380233G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys721Ile	missense variant	-	NC_000008.11:g.94380230T>A	NCI-TCGA
rs1240326440	p.Gly724Asp	missense variant	-	NC_000008.11:g.94380221C>T	TOPMed
NCI-TCGA novel	p.Val725Leu	missense variant	-	NC_000008.11:g.94380219C>A	NCI-TCGA
NCI-TCGA novel	p.Gly726Ala	missense variant	-	NC_000008.11:g.94380215C>G	NCI-TCGA
COSM454958	p.Gly726Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94380215C>A	NCI-TCGA Cosmic
rs747079772	p.Leu727Phe	missense variant	-	NC_000008.11:g.94380213G>A	ExAC,gnomAD
rs775751116	p.Asn728Ile	missense variant	-	NC_000008.11:g.94380209T>A	ExAC,TOPMed,gnomAD
rs1454740066	p.Leu729Val	missense variant	-	NC_000008.11:g.94380207G>C	gnomAD
rs756340270	p.Ile730Thr	missense variant	-	NC_000008.11:g.94380203A>G	TOPMed
rs772685781	p.Ile730Phe	missense variant	-	NC_000008.11:g.94380204T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gly731Glu	missense variant	-	NC_000008.11:g.94380200C>T	NCI-TCGA
rs887209060	p.Leu735Phe	missense variant	-	NC_000008.11:g.94380187T>G	TOPMed
rs746401438	p.Ile736Val	missense variant	-	NC_000008.11:g.94380186T>C	ExAC,gnomAD
rs1455143392	p.Leu737Val	missense variant	-	NC_000008.11:g.94380183G>C	gnomAD
rs779107055	p.Tyr738Cys	missense variant	-	NC_000008.11:g.94380179T>C	ExAC,TOPMed,gnomAD
rs1396331100	p.Tyr738His	missense variant	-	NC_000008.11:g.94380180A>G	TOPMed
COSM6181744	p.Asp739Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94380176T>G	NCI-TCGA Cosmic
rs747702171	p.Ile740Val	missense variant	-	NC_000008.11:g.94380174T>C	ExAC,TOPMed,gnomAD
rs919266827	p.Pro744Ala	missense variant	-	NC_000008.11:g.94380162G>C	TOPMed
rs1349869154	p.Asp747Gly	missense variant	-	NC_000008.11:g.94380152T>C	gnomAD
rs754695268	p.Ile748Phe	missense variant	-	NC_000008.11:g.94380150T>A	ExAC,gnomAD
rs147396183	p.Met751Ile	missense variant	-	NC_000008.11:g.94378629C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147396183	p.Met751Ile	missense variant	-	NC_000008.11:g.94378629C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser752Cys	missense variant	-	NC_000008.11:g.94378627G>C	NCI-TCGA
NCI-TCGA novel	p.Ser752Tyr	missense variant	-	NC_000008.11:g.94378627G>T	NCI-TCGA
COSM1102561	p.Arg756Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94378615C>A	NCI-TCGA Cosmic
rs779468249	p.Asp757Gly	missense variant	-	NC_000008.11:g.94378612T>C	ExAC,gnomAD
rs1257923699	p.Asp757His	missense variant	-	NC_000008.11:g.94378613C>G	TOPMed
rs757913367	p.Gly758Asp	missense variant	-	NC_000008.11:g.94378609C>T	ExAC,gnomAD
COSM4846596	p.Gln759Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94378607G>A	NCI-TCGA Cosmic
COSM3651920	p.Pro762Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94378598G>A	NCI-TCGA Cosmic
rs1444835062	p.Val763Ile	missense variant	-	NC_000008.11:g.94378595C>T	TOPMed
rs749959340	p.His764Tyr	missense variant	-	NC_000008.11:g.94378592G>A	ExAC,TOPMed,gnomAD
rs920269773	p.His764Arg	missense variant	-	NC_000008.11:g.94378591T>C	TOPMed,gnomAD
rs1209508986	p.Ile765Thr	missense variant	-	NC_000008.11:g.94378588A>G	gnomAD
NCI-TCGA novel	p.Arg767Lys	missense variant	-	NC_000008.11:g.94378582C>T	NCI-TCGA
rs757180812	p.Leu768Val	missense variant	-	NC_000008.11:g.94378580G>C	ExAC,gnomAD
rs1441242026	p.Leu769Pro	missense variant	-	NC_000008.11:g.94378576A>G	TOPMed
rs1322364586	p.Thr770Ile	missense variant	-	NC_000008.11:g.94378573G>A	TOPMed,gnomAD
rs775859629	p.Thr771Ile	missense variant	-	NC_000008.11:g.94378570G>A	ExAC,gnomAD
rs775859629	p.Thr771Arg	missense variant	-	NC_000008.11:g.94378570G>C	ExAC,gnomAD
rs1053803318	p.Thr773Ala	missense variant	-	NC_000008.11:g.94378378T>C	TOPMed,gnomAD
rs1374938993	p.Ile774Met	missense variant	-	NC_000008.11:g.94378373T>C	gnomAD
rs1279616127	p.Glu775Asp	missense variant	-	NC_000008.11:g.94378370T>A	gnomAD
NCI-TCGA novel	p.Glu776Ter	stop gained	-	NC_000008.11:g.94378369C>A	NCI-TCGA
rs1398361170	p.Glu776Ala	missense variant	-	NC_000008.11:g.94378368T>G	TOPMed
rs114429444	p.Ile778Val	missense variant	-	NC_000008.11:g.94378363T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs777645328	p.Arg781Met	missense variant	-	NC_000008.11:g.94378353C>A	ExAC,gnomAD
rs141251412	p.Gln782Arg	missense variant	-	NC_000008.11:g.94378350T>C	ESP,ExAC,TOPMed,gnomAD
rs752601314	p.Ser784Arg	missense variant	-	NC_000008.11:g.94378343A>T	ExAC,gnomAD
rs767851360	p.Lys785Thr	missense variant	-	NC_000008.11:g.94378341T>G	ExAC,gnomAD
COSM6114054	p.Gly787Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94378336C>A	NCI-TCGA Cosmic
rs759719271	p.Leu788Pro	missense variant	-	NC_000008.11:g.94378332A>G	ExAC,TOPMed,gnomAD
rs897014810	p.Gly790Arg	missense variant	-	NC_000008.11:g.94378327C>G	gnomAD
NCI-TCGA novel	p.Ala791Thr	missense variant	-	NC_000008.11:g.94378324C>T	NCI-TCGA
NCI-TCGA novel	p.Ala791GlyPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.94378323_94378324insC	NCI-TCGA
rs1439102903	p.Val792Phe	missense variant	-	NC_000008.11:g.94378321C>A	TOPMed,gnomAD
rs1439102903	p.Val792Ile	missense variant	-	NC_000008.11:g.94378321C>T	TOPMed,gnomAD
rs535129404	p.Asp794Asn	missense variant	-	NC_000008.11:g.94378315C>T	1000Genomes,ExAC,gnomAD
rs535129404	p.Asp794His	missense variant	-	NC_000008.11:g.94378315C>G	1000Genomes,ExAC,gnomAD
rs763447551	p.Thr796Ala	missense variant	-	NC_000008.11:g.94378309T>C	ExAC,TOPMed,gnomAD
rs1217465686	p.Thr798Ile	missense variant	-	NC_000008.11:g.94378302G>A	TOPMed
rs574833527	p.Ser799Pro	missense variant	-	NC_000008.11:g.94378300A>G	ExAC,gnomAD
rs1255830212	p.His801Tyr	missense variant	-	NC_000008.11:g.94378294G>A	TOPMed
rs1041669165	p.His801Arg	missense variant	-	NC_000008.11:g.94378293T>C	TOPMed
rs148253477	p.Ile802Thr	missense variant	-	NC_000008.11:g.94378290A>G	ESP,ExAC,TOPMed,gnomAD
rs770340985	p.Ile802Phe	missense variant	-	NC_000008.11:g.94378291T>A	ExAC,gnomAD
rs1038624768	p.Ser805Ter	stop gained	-	NC_000008.11:g.94378281G>T	gnomAD
COSM6114055	p.Glu807Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94378275T>C	NCI-TCGA Cosmic
rs777020825	p.Lys810Thr	missense variant	-	NC_000008.11:g.94378266T>G	ExAC,gnomAD
rs771688388	p.Asn811Ser	missense variant	-	NC_000008.11:g.94378263T>C	ExAC,TOPMed,gnomAD
rs1432556487	p.Leu812Phe	missense variant	-	NC_000008.11:g.94378259C>A	gnomAD
rs745528495	p.Leu812Val	missense variant	-	NC_000008.11:g.94378261A>C	ExAC,TOPMed,gnomAD
rs368681293	p.His816Arg	missense variant	-	NC_000008.11:g.94378248T>C	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Glu817Lys	missense variant	-	NC_000008.11:g.94378246C>T	NCI-TCGA
rs941263441	p.Glu817Gly	missense variant	-	NC_000008.11:g.94378245T>C	TOPMed
rs778447402	p.Asp820Gly	missense variant	-	NC_000008.11:g.94378236T>C	ExAC,gnomAD
rs770354023	p.Cys821Phe	missense variant	-	NC_000008.11:g.94378233C>A	ExAC,gnomAD
rs1175819565	p.Thr823Ala	missense variant	-	NC_000008.11:g.94378228T>C	gnomAD
rs143182528	p.His824Arg	missense variant	-	NC_000008.11:g.94378224T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs749192373	p.His824Tyr	missense variant	-	NC_000008.11:g.94378225G>A	ExAC,gnomAD
rs1049683331	p.Asp825Gly	missense variant	-	NC_000008.11:g.94378221T>C	TOPMed,gnomAD
rs1305547048	p.CysGlu829Ter	stop gained	-	NC_000008.11:g.94378209_94378210del	TOPMed
rs1341185068	p.Cys829Tyr	missense variant	-	NC_000008.11:g.94378209C>T	TOPMed,gnomAD
rs552432318	p.Cys829Arg	missense variant	-	NC_000008.11:g.94378210A>G	1000Genomes,gnomAD
NCI-TCGA novel	p.Glu830Val	missense variant	-	NC_000008.11:g.94378206T>A	NCI-TCGA
rs756190978	p.Thr832Ile	missense variant	-	NC_000008.11:g.94378200G>A	ExAC,gnomAD
rs1234656226	p.Gly833Arg	missense variant	-	NC_000008.11:g.94378198C>T	TOPMed,gnomAD
rs752511501	p.Gly833Glu	missense variant	-	NC_000008.11:g.94378197C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu835Lys	missense variant	-	NC_000008.11:g.94378192C>T	NCI-TCGA
rs755182346	p.Val836Ile	missense variant	-	NC_000008.11:g.94378189C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.His837Asp	missense variant	-	NC_000008.11:g.94378186G>C	NCI-TCGA
rs751730777	p.Thr838Ile	missense variant	-	NC_000008.11:g.94378182G>A	ExAC,gnomAD
rs751730777	p.Thr838Arg	missense variant	-	NC_000008.11:g.94378182G>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp840GlyPheSerTerUnkUnk	frameshift	-	NC_000008.11:g.94372384_94372385insATAAC	NCI-TCGA
rs1301358555	p.Asp840Asn	missense variant	-	NC_000008.11:g.94372385C>T	gnomAD
rs199673928	p.Ser841Leu	missense variant	-	NC_000008.11:g.94372381G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM454957	p.Ser841Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94372381G>T	NCI-TCGA Cosmic
rs753613034	p.Leu842TerAspLeuAsnUnk	stop gained	-	NC_000008.11:g.94372378_94372379insTTTAAATCTT	ExAC,gnomAD
NCI-TCGA novel	p.Glu843LysPheSerTerUnk	stop gained	-	NC_000008.11:g.94372376_94372377insTGGAGATCATTTAAATCTTACAGATCCTTTT	NCI-TCGA
NCI-TCGA novel	p.Glu843Ter	stop gained	-	NC_000008.11:g.94372376_94372377insTGGAGATCATTTAAATCTTA	NCI-TCGA
NCI-TCGA novel	p.Lys844Asn	missense variant	-	NC_000008.11:g.94372371T>G	NCI-TCGA
rs937584896	p.Ile846Thr	missense variant	-	NC_000008.11:g.94372366A>G	TOPMed
rs374561449	p.Val847Ile	missense variant	-	NC_000008.11:g.94372364C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1188802321	p.Val847Ala	missense variant	-	NC_000008.11:g.94372363A>G	gnomAD
rs781064024	p.Arg849Gly	missense variant	-	NC_000008.11:g.94372358T>C	ExAC,gnomAD
rs371532293	p.Asp850Asn	missense variant	-	NC_000008.11:g.94372355C>T	ESP,ExAC,TOPMed,gnomAD
rs780131590	p.Cys851Gly	missense variant	-	NC_000008.11:g.94372352A>C	ExAC,gnomAD
rs780131590	p.Cys851Arg	missense variant	-	NC_000008.11:g.94372352A>G	ExAC,gnomAD
COSM3651919	p.Gln852Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000008.11:g.94372349G>A	NCI-TCGA Cosmic
rs1196545716	p.Leu853Val	missense variant	-	NC_000008.11:g.94372346G>C	gnomAD
rs758686190	p.Gly854Arg	missense variant	-	NC_000008.11:g.94372343C>G	ExAC,gnomAD
rs765323516	p.His856Arg	missense variant	-	NC_000008.11:g.94372336T>C	ExAC,TOPMed,gnomAD
rs1339998905	p.His857Asp	missense variant	-	NC_000008.11:g.94372334G>C	gnomAD
rs1302013791	p.Gln858Arg	missense variant	-	NC_000008.11:g.94372330T>C	TOPMed
rs1393145275	p.Lys859Gln	missense variant	-	NC_000008.11:g.94372328T>G	gnomAD
rs1330874239	p.SerAsnSer860SerAsnTerLeuUnk	stop gained	-	NC_000008.11:g.94372324_94372325insTTAG	gnomAD
rs757720902	p.Ser860Phe	missense variant	-	NC_000008.11:g.94372324G>A	ExAC,TOPMed,gnomAD
rs764461313	p.Ser867Pro	missense variant	-	NC_000008.11:g.94372304A>G	ExAC,gnomAD
rs138789279	p.Met868Val	missense variant	-	NC_000008.11:g.94372301T>C	1000Genomes,ESP,TOPMed
rs1306697613	p.Ser869Cys	missense variant	-	NC_000008.11:g.94372297G>C	TOPMed
rs530979151	p.Ser869Thr	missense variant	-	NC_000008.11:g.94372298A>T	1000Genomes,ExAC,gnomAD
rs1015013570	p.Leu871Val	missense variant	-	NC_000008.11:g.94372292G>C	TOPMed
rs775991358	p.Gln873Glu	missense variant	-	NC_000008.11:g.94372286G>C	ExAC
NCI-TCGA novel	p.Trp874Cys	missense variant	-	NC_000008.11:g.94372281C>A	NCI-TCGA
NCI-TCGA novel	p.Lys875Arg	missense variant	-	NC_000008.11:g.94372279T>C	NCI-TCGA
rs116312454	p.Asp880Gly	missense variant	-	NC_000008.11:g.94372264T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116312454	p.Asp880Ala	missense variant	-	NC_000008.11:g.94372264T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs781292153	p.Leu882Phe	missense variant	-	NC_000008.11:g.94372257T>G	ExAC,TOPMed,gnomAD
rs377323859	p.Leu882Ter	stop gained	-	NC_000008.11:g.94372258A>T	ESP,ExAC,TOPMed
rs769463453	p.Asn883Lys	missense variant	-	NC_000008.11:g.94372254A>T	ExAC,TOPMed,gnomAD
COSM3651918	p.Leu884Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94372253G>A	NCI-TCGA Cosmic
rs1193105811	p.Thr885Arg	missense variant	-	NC_000008.11:g.94372249G>C	TOPMed
COSM3651917	p.Pro887Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94372244G>A	NCI-TCGA Cosmic
rs1477041500	p.Phe888Val	missense variant	-	NC_000008.11:g.94372241A>C	TOPMed,gnomAD
rs748036751	p.Arg891Ile	missense variant	-	NC_000008.11:g.94372231C>A	ExAC,gnomAD
rs768703754	p.Glu894Ter	stop gained	-	NC_000008.11:g.94372223C>A	ExAC,gnomAD
rs768703754	p.Glu894Lys	missense variant	-	NC_000008.11:g.94372223C>T	ExAC,gnomAD
rs746748423	p.Asn895Tyr	missense variant	-	NC_000008.11:g.94372220T>A	ExAC,gnomAD
rs985628045	p.Asn895Ser	missense variant	-	NC_000008.11:g.94372219T>C	TOPMed
rs150017319	p.Ile899Val	missense variant	-	NC_000008.11:g.94372208T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150017319	p.Ile899Val	missense variant	-	NC_000008.11:g.94372208T>C	UniProt,dbSNP
VAR_075090	p.Ile899Val	missense variant	-	NC_000008.11:g.94372208T>C	UniProt
rs758501111	p.Phe900Ser	missense variant	-	NC_000008.11:g.94372204A>G	ExAC,TOPMed,gnomAD
rs528440749	p.Gln901Glu	missense variant	-	NC_000008.11:g.94372202G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs778898078	p.Asn902Thr	missense variant	-	NC_000008.11:g.94372198T>G	ExAC,gnomAD
rs1354452394	p.Thr904Ile	missense variant	-	NC_000008.11:g.94372192G>A	gnomAD
COSM3902138	p.Thr904Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000008.11:g.94372193T>C	NCI-TCGA Cosmic
rs757342587	p.Gln906Glu	missense variant	-	NC_000008.11:g.94372187G>C	ExAC,TOPMed,gnomAD
rs757342587	p.Gln906Ter	stop gained	-	NC_000008.11:g.94372187G>A	ExAC,TOPMed,gnomAD
rs753978950	p.Ala907Gly	missense variant	-	NC_000008.11:g.94372183G>C	ExAC,TOPMed,gnomAD
rs1373718125	p.Thr908Ala	missense variant	-	NC_000008.11:g.94372181T>C	gnomAD
rs1324608760	p.Thr908Ile	missense variant	-	NC_000008.11:g.94372180G>A	gnomAD
rs1389228427	p.Thr910Ile	missense variant	-	NC_000008.11:g.94372174G>A	gnomAD
rs764504841	p.Thr910Ala	missense variant	-	NC_000008.11:g.94372175T>C	ExAC,gnomAD
rs549196668	p.Ter911Gln	stop lost	-	NC_000008.11:g.94372172A>G	1000Genomes,ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0006826	Malignant Neoplasms	group	BEFREE
C0007102	Malignant tumor of colon	disease	BEFREE;UNIPROT
C0008924	Cleft upper lip	disease	GWASCAT
C0009402	Colorectal Carcinoma	disease	BEFREE
C0024299	Lymphoma	group	BEFREE;HPO
C0024302	Reticulosarcoma	disease	CTD_human
C0024304	Lymphoma, Mixed-Cell	disease	CTD_human
C0024305	Lymphoma, Non-Hodgkin	disease	CGI;CLINVAR;CTD_human;UNIPROT
C0024306	Lymphoma, Undifferentiated	disease	CTD_human
C0027651	Neoplasms	group	BEFREE
C0032460	Polycystic Ovary Syndrome	disease	BEFREE
C0079740	High Grade Lymphoma (neoplasm)	disease	CTD_human
C0079741	Lymphoma, Intermediate-Grade	disease	CTD_human
C0079747	Low Grade Lymphoma (neoplasm)	disease	CTD_human
C0079757	Diffuse Mixed-Cell Lymphoma	disease	CTD_human
C0079770	Lymphoma, Small Noncleaved-Cell	disease	CTD_human
C0152013	Adenocarcinoma of lung (disorder)	disease	BEFREE
C0206081	Hyperandrogenism	disease	BEFREE
C0699790	Colon Carcinoma	disease	BEFREE;CGI;CLINVAR
C1306459	Primary malignant neoplasm	group	BEFREE
C1458155	Mammary Neoplasms	group	LHGDN
C1527249	Colorectal Cancer	disease	BEFREE
C3714542	Lymphoma, Diffuse	disease	CTD_human

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003677	DNA binding	IEA
GO:0003678	DNA helicase activity	TAS
GO:0003724	RNA helicase activity	TAS
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0015616	DNA translocase activity	IDA
GO:0015616	DNA translocase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000724	double-strand break repair via homologous recombination	IDA
GO:0000724	double-strand break repair via homologous recombination	IBA
GO:0006312	mitotic recombination	TAS
GO:0007131	reciprocal meiotic recombination	IBA
GO:0032508	DNA duplex unwinding	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
C028474	1,4-bis(2-(3,5-dichloropyridyloxy))benzene	1,4-bis(2-(3,5-dichloropyridyloxy))benzene results in increased expression of RAD54B mRNA	22698814
D015056	1-Methyl-3-isobutylxanthine	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of RAD54B mRNA	28628672
C532162	2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine	[PIK3CA gene mutant form results in increased susceptibility to 2-(1H-indazol-4-yl)-6-(4-methanesulfonylpiperazin-1-ylmethyl)-4-morpholin-4-ylthieno(3,2-d)pyrimidine] which results in decreased expression of RAD54B mRNA	20453058
C029790	2,2',3',4,4',5-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of RAD54B mRNA	25510870
C029497	2,3-bis(3'-hydroxybenzyl)butyrolactone	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of RAD54B mRNA	19167446
C081766	2,4,4'-trichlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of RAD54B mRNA	25510870
C014024	2,4,5,2',4',5'-hexachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of RAD54B mRNA	25510870
C009828	2,4,5,2',5'-pentachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of RAD54B mRNA	25510870
C009407	2,5,2',5'-tetrachlorobiphenyl	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of RAD54B mRNA	25510870
C006551	2-amino-2-methyl-1-propanol	2-amino-2-methyl-1-propanol results in increased expression of RAD54B mRNA	25088246
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RAD54B mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAD54B mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAD54B mRNA	27188386
C459179	4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAD54B mRNA	27188386
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of RAD54B mRNA	20382639
D000082	Acetaminophen	Acetaminophen results in increased expression of RAD54B mRNA	22230336
D016604	Aflatoxin B1	Aflatoxin B1 affects the expression of RAD54B protein	20106945
C000593263	afuresertib	afuresertib results in decreased expression of RAD54B mRNA	28960945
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in increased expression of RAD54B mRNA	26680231
D000077237	Arsenic Trioxide	Arsenic Trioxide results in increased expression of RAD54B mRNA	20458559; 22521957;
D001205	Ascorbic Acid	[Quercetin co-treated with Ascorbic Acid] results in increased expression of RAD54B mRNA	17639512
D001379	Azathioprine	Azathioprine results in decreased expression of RAD54B mRNA	22623647
C543008	bis(4-hydroxyphenyl)sulfone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of RAD54B mRNA	28628672
C006780	bisphenol A	bisphenol A results in decreased expression of RAD54B mRNA	29275510
C006780	bisphenol A	bisphenol A results in decreased expression of RAD54B mRNA	25181051
D002945	Cisplatin	Cisplatin results in decreased expression of RAD54B mRNA	27392435
D003010	Clorgyline	Clorgyline results in increased expression of RAD54B mRNA	19691856
D003300	Copper	[NSC 689534 binds to Copper] which results in decreased expression of RAD54B mRNA	20971185
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of RAD54B mRNA	19549813
D003375	Coumestrol	[Coumestrol co-treated with 2,3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of RAD54B mRNA	19167446
D003375	Coumestrol	[Coumestrol co-treated with Resveratrol] results in increased expression of RAD54B mRNA	19167446
D003375	Coumestrol	Coumestrol results in increased expression of RAD54B mRNA	19167446
C408982	CPG-oligonucleotide	CPG-oligonucleotide results in decreased expression of RAD54B mRNA	21878529
C408982	CPG-oligonucleotide	CPG-oligonucleotide results in increased expression of RAD54B mRNA	21878529
D016572	Cyclosporine	Cyclosporine results in decreased expression of RAD54B mRNA	20106945; 21632981; 25562108;
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of RAD54B mRNA	28628672
D003907	Dexamethasone	Dexamethasone results in decreased expression of RAD54B mRNA	22733784
C000944	dicrotophos	dicrotophos results in decreased expression of RAD54B mRNA	28302478
D013196	Dihydrotestosterone	Dihydrotestosterone results in increased expression of RAD54B mRNA	29581250
C516138	dorsomorphin	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RAD54B mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAD54B mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAD54B mRNA	27188386
C516138	dorsomorphin	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAD54B mRNA	27188386
D004317	Doxorubicin	Doxorubicin results in decreased expression of RAD54B mRNA	29803840
D013759	Dronabinol	Dronabinol affects the methylation of RAD54B gene	26044905
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of RAD54B mRNA	23129252
D005472	Fluorouracil	Fluorouracil results in decreased expression of RAD54B mRNA	16557594
C007836	geraniol	geraniol results in decreased expression of RAD54B mRNA	27683099
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bis(4-hydroxyphenyl)sulfone] results in increased expression of RAD54B mRNA	28628672
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of RAD54B mRNA	25613284
C544151	jinfukang	jinfukang results in decreased expression of RAD54B mRNA	27392435
D000077339	Leflunomide	Leflunomide results in decreased expression of RAD54B mRNA	28988120
D008558	Melphalan	Melphalan results in decreased expression of RAD54B mRNA	22363485
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of RAD54B mRNA	23179753; 26272509;
C004925	methylmercuric chloride	[NOG protein co-treated with methylmercuric chloride co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of RAD54B mRNA	27188386
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in decreased expression of RAD54B mRNA	26011545
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of RAD54B mRNA	23649840
C000622638	MLN7243	MLN7243 results in increased sumoylation of RAD54B protein	31285264
C583365	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide	N-(2-(1,1'-bicyclopropyl)-2-ylphenyl)-3-(difluoromethyl)-1-methyl-1H-pyrazole-4-carboxamide results in decreased expression of RAD54B mRNA	29244179
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of RAD54B mRNA	25554681
C558013	NSC 689534	[NSC 689534 binds to Copper] which results in decreased expression of RAD54B mRNA	20971185
C025589	ochratoxin A	ochratoxin A results in decreased acetylation of RAD54B promoter	29098329
C025589	ochratoxin A	[ochratoxin A results in decreased acetylation of RAD54B promoter] which results in decreased expression of RAD54B mRNA	29098329; 29098329;
C025589	ochratoxin A	ochratoxin A results in decreased expression of RAD54B mRNA	29098329
C410127	PCB 180	[2,4,4'-trichlorobiphenyl co-treated with 2,5,2',5'-tetrachlorobiphenyl co-treated with 2,4,5,2',5'-pentachlorobiphenyl co-treated with 2,2',3',4,4',5-hexachlorobiphenyl co-treated with 2,4,5,2',4',5'-hexachlorobiphenyl co-treated with PCB 180] results in increased expression of RAD54B mRNA	25510870
D010662	Phenylmercuric Acetate	[NOG protein co-treated with Phenylmercuric Acetate co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAD54B mRNA	27188386
D010662	Phenylmercuric Acetate	Phenylmercuric Acetate results in decreased expression of RAD54B mRNA	26272509
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of RAD54B mRNA	19710929
C006253	pirinixic acid	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of RAD54B mRNA	19710929
C006253	pirinixic acid	[pirinixic acid co-treated with PPARA] results in increased expression of RAD54B mRNA	20813756
C006253	pirinixic acid	pirinixic acid results in increased expression of RAD54B mRNA	20813756; 23811191;
D011285	Pregnenolone Carbonitrile	Pregnenolone Carbonitrile results in increased expression of RAD54B mRNA	22698814
D011794	Quercetin	[Quercetin co-treated with Ascorbic Acid] results in increased expression of RAD54B mRNA	17639512
D011794	Quercetin	Quercetin results in decreased expression of RAD54B mRNA	21632981
D000077185	Resveratrol	[Coumestrol co-treated with Resveratrol] results in increased expression of RAD54B mRNA	19167446
D012402	Rotenone	Rotenone results in increased expression of RAD54B mRNA	18191903
C017947	sodium arsenite	sodium arsenite affects the methylation of RAD54B gene	28589171
C016104	sodium bichromate	sodium bichromate results in increased expression of RAD54B mRNA	22155349
D000077210	Sunitinib	Sunitinib results in decreased expression of RAD54B mRNA	31533062
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in increased expression of RAD54B mRNA	25613284
D014212	Tretinoin	Tretinoin results in decreased expression of RAD54B mRNA	21934132
C012589	trichostatin A	[NOG protein co-treated with trichostatin A co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAD54B mRNA	27188386
C012589	trichostatin A	trichostatin A results in decreased expression of RAD54B mRNA	24935251; 26272509;
C015559	trimellitic anhydride	trimellitic anhydride results in increased expression of RAD54B mRNA	19042947
D014635	Valproic Acid	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in decreased expression of RAD54B mRNA	27188386
D014635	Valproic Acid	Valproic Acid results in decreased expression of RAD54B mRNA	23179753; 24383497; 24935251; 26272509; 27188386;
C025643	vinclozolin	vinclozolin results in decreased expression of RAD54B mRNA	23555832
D000077337	Vorinostat	Vorinostat results in increased expression of RAD54B mRNA	27188386

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0227	DNA damage
KW-0234	DNA repair
KW-0238	DNA-binding
KW-0347	Helicase
KW-0378	Hydrolase
KW-0547	Nucleotide-binding
KW-0539	Nucleus
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome

Interpro

InterPro ID	InterPro Term
IPR014001	Helicase_ATP-bd
IPR001650	Helicase_C
IPR027417	P-loop_NTPase
IPR038718	SNF2-like_sf
IPR000330	SNF2_N

PROSITE

PROSITE ID	PROSITE Term
PS51192	HELICASE_ATP_BIND_1
PS51194	HELICASE_CTER

Pfam

Pfam ID	Pfam Term
PF00271	Helicase_C
PF00176	SNF2_N

Gene: RAD54B

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Identified variants/mutations related to cleft phenotype

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction