CleftGeneDB-Search

Gene: IFT88

Basic information

Tag	Content
Uniprot ID	Q13099; A2A491; B4DUS2; Q5SZJ6; Q8N719;
Entrez ID	8100
Genbank protein ID	AAA86720.1; BAG62434.1; EAX08272.1; AAH30776.2;
Genbank nucleotide ID	NM_175605.4; XM_005266553.2; XM_011535241.2; XM_017020758.1; NM_001318491.1; NM_001318493.1;
Ensembl protein ID	ENSP00000261632; ENSP00000323580;
Ensembl nucleotide ID	ENSG00000032742
Gene name	Intraflagellar transport protein 88 homolog
Gene symbol	IFT88
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Homology search
Reference
Functional description	Involved in primary cilium biogenesis. Also involved in autophagy since it is required for trafficking of ATG16L and the expansion of the autophagic compartment.
Sequence	MKFTNTKVQM MQNVHLAPET DEDDLYSGYN DYNPIYDIEE LENDAAFQQA VRTSHGRRPP 60 ITAKISSTAV TRPIATGYGS KTSLASSIGR PMTGAIQDGV TRPMTAVRAA GFTKAALRGS 120 AFDPLSQSRG PASPLEAKKK DSPEEKIKQL EKEVNELVEE SCIANSCGDL KLALEKAKDA 180 GRKERVLVRQ REQVTTPENI NLDLTYSVLF NLASQYSVNE MYAEALNTYQ VIVKNKMFSN 240 AGILKMNMGN IYLKQRNYSK AIKFYRMALD QVPSVNKQMR IKIMQNIGVT FIQAGQYSDA 300 INSYEHIMSM APNLKAGYNL TICYFAIGDR EKMKKAFQKL ITVPLEIDED KYISPSDDPH 360 TNLVTEAIKN DHLRQMERER KAMAEKYIMT SAKLIAPVIE TSFAAGYDWC VEVVKASQYV 420 ELANDLEINK AVTYLRQKDY NQAVEILKVL EKKDSRVKSA AATNLSALYY MGKDFAQASS 480 YADIAVNSDR YNPAALTNKG NTVFANGDYE KAAEFYKEAL RNDSSCTEAL YNIGLTYEKL 540 NRLDEALDCF LKLHAILRNS AEVLYQIANI YELMENPSQA IEWLMQVVSV IPTDPQVLSK 600 LGELYDREGD KSQAFQYYYE SYRYFPCNIE VIEWLGAYYI DTQFWEKAIQ YFERASLIQP 660 TQVKWQLMVA SCFRRSGNYQ KALDTYKDTH RKFPENVECL RFLVRLCTDL GLKDAQEYAR 720 KLKRLEKMKE IREQRIKSGR DGSGGSRGKR EGSASGDSGQ NYSASSKGER LSARLRALPG 780 TNEPYESSSN KEIDASYVDP LGPQIERPKT AAKKRIDEDD FADEELGDDL LPE 833

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

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	IFT88	514177	E1BLX1		Bos taurus	Prediction	More>>
1:1 ortholog	IFT88	477345	E2R838		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	IFT88		A0A452FFN1		Capra hircus	Prediction	More>>
1:1 ortholog	IFT88	8100	Q13099		Homo sapiens	Prediction	More>>
1:1 ortholog	Ift88	21821	Q61371	CPO,CLP,CLO	Mus musculus	Publication	More>>
1:1 ortholog	IFT88		A0A2I3RWX3		Pan troglodytes	Prediction	More>>
1:1 ortholog			I3LER9		Sus scrofa	Prediction	More>>
1:1 ortholog	IFT88	100009576	G1SJN9		Oryctolagus cuniculus	Prediction	More>>
1:1 ortholog	Ift88	305918	A0A096MK92		Rattus norvegicus	Prediction	More>>
1:1 ortholog	ift88		B0UYB0		Danio rerio	Prediction	More>>

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs1163503730	p.Phe3Leu	missense variant	-	NC_000013.11:g.20567985C>G	TOPMed
rs1001953284	p.Phe3Leu	missense variant	-	NC_000013.11:g.20567983T>C	TOPMed
rs1370545708	p.Thr6Ser	missense variant	-	NC_000013.11:g.20567993C>G	TOPMed
rs374667274	p.Thr6Ala	missense variant	-	NC_000013.11:g.20567992A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs191277814	p.Met10Val	missense variant	-	NC_000013.11:g.20574386A>G	1000Genomes,ExAC,gnomAD
rs1433385295	p.Gln12Lys	missense variant	-	NC_000013.11:g.20574392C>A	TOPMed
rs1344092075	p.Val14Met	missense variant	-	NC_000013.11:g.20574398G>A	TOPMed,gnomAD
rs981925929	p.His15Gln	missense variant	-	NC_000013.11:g.20574403C>G	TOPMed,gnomAD
rs200359008	p.Pro18Ser	missense variant	-	NC_000013.11:g.20574410C>T	ExAC,TOPMed,gnomAD
rs1202887007	p.Pro18Gln	missense variant	-	NC_000013.11:g.20574411C>A	gnomAD
rs376138318	p.Asp21Ala	missense variant	-	NC_000013.11:g.20574420A>C	ESP,ExAC,TOPMed,gnomAD
rs1202917261	p.Glu22Asp	missense variant	-	NC_000013.11:g.20574424A>C	TOPMed
rs140680324	p.Gly28Ser	missense variant	-	NC_000013.11:g.20574440G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767243368	p.Gly28Asp	missense variant	-	NC_000013.11:g.20574441G>A	ExAC
rs1351944278	p.Tyr29Cys	missense variant	-	NC_000013.11:g.20574444A>G	TOPMed
rs1351944278	p.Tyr29Phe	missense variant	-	NC_000013.11:g.20574444A>T	TOPMed
rs1335394474	p.Asp31Gly	missense variant	-	NC_000013.11:g.20574450A>G	TOPMed
rs1228511905	p.Asn33Ser	missense variant	-	NC_000013.11:g.20574456A>G	TOPMed,gnomAD
rs1266505304	p.Pro34Arg	missense variant	-	NC_000013.11:g.20574459C>G	gnomAD
rs750818479	p.Tyr36Cys	missense variant	-	NC_000013.11:g.20574465A>G	ExAC,gnomAD
rs750818479	p.Tyr36Ser	missense variant	-	NC_000013.11:g.20574465A>C	ExAC,gnomAD
rs201009750	p.Ile38Thr	missense variant	-	NC_000013.11:g.20574471T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs754431917	p.Glu39Lys	missense variant	-	NC_000013.11:g.20574473G>A	ExAC,TOPMed,gnomAD
COSM945881	p.Glu39Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20574475G>T	NCI-TCGA Cosmic
rs773946920	p.Glu40Gln	missense variant	-	NC_000013.11:g.20582957G>C	ExAC,gnomAD
rs138599693	p.Glu40Val	missense variant	-	NC_000013.11:g.20582958A>T	ESP,ExAC,TOPMed,gnomAD
rs1048389839	p.Glu42Lys	missense variant	-	NC_000013.11:g.20582963G>A	TOPMed,gnomAD
rs373899277	p.Ala45Thr	missense variant	-	NC_000013.11:g.20582972G>A	ESP,ExAC,TOPMed,gnomAD
COSM4046385	p.Ala46Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20582975G>T	NCI-TCGA Cosmic
rs765932393	p.Phe47Leu	missense variant	-	NC_000013.11:g.20582980T>G	ExAC,TOPMed,gnomAD
rs766887846	p.Val51Met	missense variant	-	NC_000013.11:g.20582990G>A	ExAC,gnomAD
rs141683155	p.His55Tyr	missense variant	-	NC_000013.11:g.20583002C>T	ESP,ExAC,TOPMed,gnomAD
rs755529108	p.Pro59Thr	missense variant	-	NC_000013.11:g.20583014C>A	ExAC,gnomAD
rs779248441	p.Pro59Arg	missense variant	-	NC_000013.11:g.20583015C>G	ExAC,TOPMed,gnomAD
rs1165671120	p.Pro60Leu	missense variant	-	NC_000013.11:g.20583018C>T	gnomAD
COSM416418	p.Pro60Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20583017C>T	NCI-TCGA Cosmic
rs753211125	p.Thr62Ala	missense variant	-	NC_000013.11:g.20589814A>G	ExAC,gnomAD
rs1195697688	p.Lys64Gln	missense variant	-	NC_000013.11:g.20589820A>C	TOPMed
COSM695832	p.Lys64Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20589820A>G	NCI-TCGA Cosmic
rs375571364	p.Thr68Lys	missense variant	-	NC_000013.11:g.20589833C>A	ESP,ExAC,TOPMed,gnomAD
rs375571364	p.Thr68Met	missense variant	-	NC_000013.11:g.20589833C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala69Thr	missense variant	-	NC_000013.11:g.20589835G>A	NCI-TCGA
rs751592736	p.Thr71Ala	missense variant	-	NC_000013.11:g.20589841A>G	ExAC,gnomAD
rs1282180685	p.Pro73Leu	missense variant	-	NC_000013.11:g.20589848C>T	TOPMed
rs757504073	p.Ile74Leu	missense variant	-	NC_000013.11:g.20589850A>T	ExAC,TOPMed,gnomAD
rs757504073	p.Ile74Val	missense variant	-	NC_000013.11:g.20589850A>G	ExAC,TOPMed,gnomAD
rs933345858	p.Tyr78Cys	missense variant	-	NC_000013.11:g.20589863A>G	TOPMed
rs1452960490	p.Lys81Thr	missense variant	-	NC_000013.11:g.20590971A>C	gnomAD
rs1488685318	p.Lys81Glu	missense variant	-	NC_000013.11:g.20590970A>G	TOPMed
COSM432199	p.Lys81Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20590972G>T	NCI-TCGA Cosmic
rs935172901	p.Thr82Ile	missense variant	-	NC_000013.11:g.20590974C>T	TOPMed,gnomAD
rs1362158346	p.Ala85Gly	missense variant	-	NC_000013.11:g.20590983C>G	TOPMed,gnomAD
rs138056001	p.Ala85Thr	missense variant	-	NC_000013.11:g.20590982G>A	ESP,TOPMed
rs1362158346	p.Ala85Val	missense variant	-	NC_000013.11:g.20590983C>T	TOPMed,gnomAD
rs1038058850	p.Ser86Leu	missense variant	-	NC_000013.11:g.20590986C>T	TOPMed
rs767626107	p.Ile88Val	missense variant	-	NC_000013.11:g.20590991A>G	ExAC,TOPMed,gnomAD
rs750673074	p.Ile88Thr	missense variant	-	NC_000013.11:g.20590992T>C	ExAC,gnomAD
rs756326377	p.Gly89Val	missense variant	-	NC_000013.11:g.20590995G>T	ExAC,gnomAD
rs758439682	p.Pro91Arg	missense variant	-	NC_000013.11:g.20591001C>G	ExAC,gnomAD
rs149506260	p.Pro91Ser	missense variant	-	NC_000013.11:g.20591000C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1163765795	p.Met92Thr	missense variant	-	NC_000013.11:g.20591004T>C	TOPMed
rs201782733	p.Met92Val	missense variant	-	NC_000013.11:g.20591003A>G	ExAC,TOPMed,gnomAD
rs148678288	p.Thr93Ala	missense variant	-	NC_000013.11:g.20591006A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1039606315	p.Thr93Ile	missense variant	-	NC_000013.11:g.20591007C>T	TOPMed
rs780723603	p.Ile96Val	missense variant	-	NC_000013.11:g.20591015A>G	ExAC,TOPMed,gnomAD
rs780723603	p.Ile96Phe	missense variant	-	NC_000013.11:g.20591015A>T	ExAC,TOPMed,gnomAD
rs748929005	p.Asp98His	missense variant	-	NC_000013.11:g.20591618G>C	ExAC,gnomAD
rs372975558	p.Asp98Val	missense variant	-	NC_000013.11:g.20591619A>T	ESP,ExAC,TOPMed,gnomAD
rs774663596	p.Gly99Val	missense variant	-	NC_000013.11:g.20591622G>T	ExAC
rs762271735	p.Val100Leu	missense variant	-	NC_000013.11:g.20591624G>C	ExAC,gnomAD
rs1270395802	p.Thr101Ser	missense variant	-	NC_000013.11:g.20591628C>G	gnomAD
rs1270395802	p.Thr101Ile	missense variant	-	NC_000013.11:g.20591628C>T	gnomAD
rs772579820	p.Thr101Ala	missense variant	-	NC_000013.11:g.20591627A>G	ExAC,gnomAD
rs375150650	p.Met104Leu	missense variant	-	NC_000013.11:g.20591636A>T	ESP,ExAC,TOPMed,gnomAD
rs375150650	p.Met104Val	missense variant	-	NC_000013.11:g.20591636A>G	ESP,ExAC,TOPMed,gnomAD
rs1209645668	p.Gly111Asp	missense variant	-	NC_000013.11:g.20591658G>A	TOPMed
rs760740841	p.Phe112Val	missense variant	-	NC_000013.11:g.20591660T>G	ExAC,gnomAD
rs766522220	p.Lys114Arg	missense variant	-	NC_000013.11:g.20591667A>G	ExAC,gnomAD
rs957794500	p.Ser120Ala	missense variant	-	NC_000013.11:g.20592337T>G	TOPMed
rs1391197898	p.Ala121Val	missense variant	-	NC_000013.11:g.20592341C>T	gnomAD
rs1444046708	p.Ala121Thr	missense variant	-	NC_000013.11:g.20592340G>A	gnomAD
rs987900141	p.Asp123Glu	missense variant	-	NC_000013.11:g.20592348C>A	TOPMed
rs1454077918	p.Pro124His	missense variant	-	NC_000013.11:g.20592350C>A	gnomAD
rs9315740	p.Leu125Phe	missense variant	-	NC_000013.11:g.20592352C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1478029099	p.Leu125Arg	missense variant	-	NC_000013.11:g.20592353T>G	TOPMed,gnomAD
rs771201386	p.Gln127His	missense variant	-	NC_000013.11:g.20592360G>T	ExAC,gnomAD
rs747457589	p.Gln127Arg	missense variant	-	NC_000013.11:g.20592359A>G	ExAC,TOPMed,gnomAD
rs776831267	p.Ser128Leu	missense variant	-	NC_000013.11:g.20592362C>T	ExAC,TOPMed,gnomAD
rs759861534	p.Arg129Ser	missense variant	-	NC_000013.11:g.20592366G>C	ExAC,TOPMed,gnomAD
COSM6074474	p.Pro131Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20592371C>T	NCI-TCGA Cosmic
rs774023811	p.Ala132Thr	missense variant	-	NC_000013.11:g.20592373G>A	ExAC,gnomAD
rs1360211182	p.Pro134Ser	missense variant	-	NC_000013.11:g.20592379C>T	gnomAD
NCI-TCGA novel	p.Pro134His	missense variant	-	NC_000013.11:g.20592380C>A	NCI-TCGA
COSM3467622	p.Pro134Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20592380C>T	NCI-TCGA Cosmic
rs761614657	p.Leu135Phe	missense variant	-	NC_000013.11:g.20592384G>C	ExAC,gnomAD
rs368178391	p.Ala137Thr	missense variant	-	NC_000013.11:g.20592388G>A	ESP,gnomAD
rs1343223052	p.Ala137Val	missense variant	-	NC_000013.11:g.20592389C>T	gnomAD
rs767205880	p.Lys139Glu	missense variant	-	NC_000013.11:g.20592394A>G	ExAC,gnomAD
NCI-TCGA novel	p.Lys139Asn	missense variant	-	NC_000013.11:g.20592396A>C	NCI-TCGA
rs755978996	p.Asp141Val	missense variant	-	NC_000013.11:g.20592401A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp141ArgPheSerTerUnk	frameshift	-	NC_000013.11:g.20592393_20592394insA	NCI-TCGA
NCI-TCGA novel	p.Asp141Tyr	missense variant	-	NC_000013.11:g.20592400G>T	NCI-TCGA
rs755978996	p.Asp141Gly	missense variant	-	NC_000013.11:g.20592401A>G	ExAC,TOPMed,gnomAD
COSM6074473	p.Asp141His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20592400G>C	NCI-TCGA Cosmic
rs1237703855	p.Glu144Ala	missense variant	-	NC_000013.11:g.20596155A>C	gnomAD
rs764712905	p.Glu145Lys	missense variant	-	NC_000013.11:g.20596157G>A	ExAC,gnomAD
rs752463134	p.Ile147Val	missense variant	-	NC_000013.11:g.20596163A>G	ExAC,gnomAD
COSM1562350	p.Ile147Ter	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.20596158A>-	NCI-TCGA Cosmic
rs368880394	p.Lys148Ter	stop gained	-	NC_000013.11:g.20596166A>T	ESP,ExAC,gnomAD
rs1392469366	p.Glu151Gly	missense variant	-	NC_000013.11:g.20596176A>G	gnomAD
rs1007504839	p.Lys152Arg	missense variant	-	NC_000013.11:g.20596179A>G	TOPMed,gnomAD
rs751830530	p.Glu153Asp	missense variant	-	NC_000013.11:g.20596183A>C	ExAC,gnomAD
COSM945883	p.Asn155His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20596187A>C	NCI-TCGA Cosmic
rs1310488492	p.Glu156Asp	missense variant	-	NC_000013.11:g.20596192G>T	gnomAD
rs1339586608	p.Val158Leu	missense variant	-	NC_000013.11:g.20596196G>T	gnomAD
rs139866950	p.Glu160Gln	missense variant	-	NC_000013.11:g.20596202G>C	ESP,ExAC,gnomAD
rs770062711	p.Glu160Gly	missense variant	-	NC_000013.11:g.20596203A>G	ExAC,gnomAD
rs139866950	p.Glu160Ter	stop gained	-	NC_000013.11:g.20596202G>T	ESP,ExAC,gnomAD
rs1461379158	p.Ser161Asn	missense variant	-	NC_000013.11:g.20596206G>A	TOPMed
rs779962847	p.Cys162Tyr	missense variant	-	NC_000013.11:g.20596209G>A	ExAC,gnomAD
rs768714968	p.Asn165Ser	missense variant	-	NC_000013.11:g.20596218A>G	ExAC,TOPMed,gnomAD
rs1458276396	p.Asp169Ala	missense variant	-	NC_000013.11:g.20596230A>C	gnomAD
NCI-TCGA novel	p.Lys171Thr	missense variant	-	NC_000013.11:g.20596236A>C	NCI-TCGA
rs1226023412	p.Leu172Phe	missense variant	-	NC_000013.11:g.20596240G>T	TOPMed
rs1230363908	p.Lys178Glu	missense variant	-	NC_000013.11:g.20597030A>G	gnomAD
rs748358611	p.Arg182Ser	missense variant	-	NC_000013.11:g.20597044A>T	ExAC,gnomAD
rs1365903518	p.Glu184Ter	stop gained	-	NC_000013.11:g.20597048G>T	TOPMed
NCI-TCGA novel	p.Val186GluPheSerTerUnk	frameshift	-	NC_000013.11:g.20597046_20597047insAG	NCI-TCGA
COSM6074472	p.Gln190Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20597067A>T	NCI-TCGA Cosmic
rs1334526219	p.Arg191Gln	missense variant	-	NC_000013.11:g.20597070G>A	TOPMed,gnomAD
rs772604977	p.Arg191Ter	stop gained	-	NC_000013.11:g.20597069C>T	gnomAD
rs776380570	p.Gln193His	missense variant	-	NC_000013.11:g.20597077A>C	ExAC,TOPMed,gnomAD
rs1299266664	p.Val194Ile	missense variant	-	NC_000013.11:g.20597078G>A	gnomAD
rs1292484017	p.Val194Ala	missense variant	-	NC_000013.11:g.20597079T>C	gnomAD
rs1311746167	p.Thr195Ile	missense variant	-	NC_000013.11:g.20597082C>T	gnomAD
rs769577868	p.Thr196Ile	missense variant	-	NC_000013.11:g.20597085C>T	ExAC,gnomAD
rs759519229	p.Thr196Ala	missense variant	-	NC_000013.11:g.20597084A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu198ArgPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.20597088_20597089insT	NCI-TCGA
NCI-TCGA novel	p.Glu198Ter	stop gained	-	NC_000013.11:g.20597090G>T	NCI-TCGA
rs762310389	p.Asn199Thr	missense variant	-	NC_000013.11:g.20597094A>C	ExAC
rs1216377741	p.Asn199Asp	missense variant	-	NC_000013.11:g.20597093A>G	gnomAD
rs762310389	p.Asn199Ser	missense variant	-	NC_000013.11:g.20597094A>G	ExAC
rs763645388	p.Ile200Thr	missense variant	-	NC_000013.11:g.20597097T>C	ExAC,TOPMed,gnomAD
rs1267403698	p.Asn201Ser	missense variant	-	NC_000013.11:g.20597100A>G	TOPMed
rs774211111	p.Ser207Ala	missense variant	-	NC_000013.11:g.20597117T>G	ExAC,TOPMed,gnomAD
rs1448958303	p.Val208Leu	missense variant	-	NC_000013.11:g.20598651G>C	TOPMed
rs563944253	p.Leu209Phe	missense variant	-	NC_000013.11:g.20598654C>T	1000Genomes,ExAC,gnomAD
rs563944253	p.Leu209Val	missense variant	-	NC_000013.11:g.20598654C>G	1000Genomes,ExAC,gnomAD
rs775345911	p.Phe210Ser	missense variant	-	NC_000013.11:g.20598658T>C	ExAC,gnomAD
rs1162881262	p.Phe210Leu	missense variant	-	NC_000013.11:g.20598657T>C	gnomAD
rs147688662	p.Asn211Ser	missense variant	-	NC_000013.11:g.20598661A>G	ESP,ExAC,TOPMed,gnomAD
rs768089063	p.Ala213Thr	missense variant	-	NC_000013.11:g.20598666G>A	ExAC,gnomAD
rs1375923038	p.Ser214Thr	missense variant	-	NC_000013.11:g.20598670G>C	gnomAD
rs79793487	p.Ser214Gly	missense variant	-	NC_000013.11:g.20598669A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1226996358	p.Gln215Ter	stop gained	-	NC_000013.11:g.20598672C>T	gnomAD
rs375660619	p.Gln215Arg	missense variant	-	NC_000013.11:g.20598673A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM272074	p.Gln215His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20598674G>C	NCI-TCGA Cosmic
rs773720756	p.Ser217Ala	missense variant	-	NC_000013.11:g.20598678T>G	ExAC,gnomAD
rs1255600604	p.Val218Ile	missense variant	-	NC_000013.11:g.20598681G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Val218Phe	missense variant	-	NC_000013.11:g.20598681G>T	NCI-TCGA
rs1214047740	p.Asn219Ser	missense variant	-	NC_000013.11:g.20598685A>G	TOPMed
NCI-TCGA novel	p.Glu220Ter	stop gained	-	NC_000013.11:g.20598687G>T	NCI-TCGA
COSM695830	p.Met221Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20598690A>G	NCI-TCGA Cosmic
rs760893377	p.Met221Ile	missense variant	-	NC_000013.11:g.20598692G>A	ExAC,gnomAD
rs925342211	p.Tyr222Cys	missense variant	-	NC_000013.11:g.20598694A>G	gnomAD
rs766755396	p.Ala223Val	missense variant	-	NC_000013.11:g.20598697C>T	ExAC,gnomAD
rs370019363	p.Glu224Lys	missense variant	-	NC_000013.11:g.20598699G>A	ESP,ExAC,TOPMed,gnomAD
rs370019363	p.Glu224Lys	missense variant	-	NC_000013.11:g.20598699G>A	NCI-TCGA
rs765350470	p.Ala225Thr	missense variant	-	NC_000013.11:g.20598702G>A	ExAC,TOPMed,gnomAD
rs1049692644	p.Thr228Ala	missense variant	-	NC_000013.11:g.20598711A>G	TOPMed
rs142815394	p.Gln230His	missense variant	-	NC_000013.11:g.20598719A>C	1000Genomes
rs1392662112	p.Gln230Glu	missense variant	-	NC_000013.11:g.20598717C>G	TOPMed,gnomAD
rs752725491	p.Val231Ile	missense variant	-	NC_000013.11:g.20598720G>A	ExAC,gnomAD
rs1484408923	p.Ile232Val	missense variant	-	NC_000013.11:g.20598723A>G	TOPMed
rs758623992	p.Ile232Met	missense variant	-	NC_000013.11:g.20598725A>G	ExAC,gnomAD
rs1167381896	p.Ile232Thr	missense variant	-	NC_000013.11:g.20598724T>C	TOPMed,gnomAD
rs1405784549	p.Val233Ile	missense variant	-	NC_000013.11:g.20598726G>A	gnomAD
rs1332585722	p.Lys234Gln	missense variant	-	NC_000013.11:g.20598729A>C	gnomAD
rs1356756446	p.Asn235His	missense variant	-	NC_000013.11:g.20598732A>C	gnomAD
rs149818223	p.Met237Thr	missense variant	-	NC_000013.11:g.20598739T>C	ESP,ExAC,TOPMed,gnomAD
rs149818223	p.Met237Arg	missense variant	-	NC_000013.11:g.20598739T>G	ESP,ExAC,TOPMed,gnomAD
COSM945884	p.Phe238Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20598741T>C	NCI-TCGA Cosmic
rs747240431	p.Asn240Ser	missense variant	-	NC_000013.11:g.20598748A>G	ExAC,gnomAD
rs755927859	p.Ala241Thr	missense variant	-	NC_000013.11:g.20598750G>A	ExAC,TOPMed,gnomAD
rs1214139987	p.Ile243Val	missense variant	-	NC_000013.11:g.20599453A>G	gnomAD
rs1271303153	p.Met246Thr	missense variant	-	NC_000013.11:g.20599463T>C	gnomAD
rs201076403	p.Met248Val	missense variant	-	NC_000013.11:g.20599468A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1042639661	p.Ile251Thr	missense variant	-	NC_000013.11:g.20599478T>C	TOPMed,gnomAD
rs1251939595	p.Tyr252Asp	missense variant	-	NC_000013.11:g.20599480T>G	gnomAD
rs1243849210	p.Tyr252Cys	missense variant	-	NC_000013.11:g.20599481A>G	gnomAD
rs1286343838	p.Leu253Ter	stop gained	-	NC_000013.11:g.20599484T>G	TOPMed
rs1477088140	p.Lys254Arg	missense variant	-	NC_000013.11:g.20599487A>G	gnomAD
rs1474573713	p.Arg256Ile	missense variant	-	NC_000013.11:g.20599493G>T	NCI-TCGA Cosmic
rs1474573713	p.Arg256Ile	missense variant	-	NC_000013.11:g.20599493G>T	gnomAD
COSM945885	p.Arg256Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20599494A>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala261Thr	missense variant	-	NC_000013.11:g.20599507G>A	NCI-TCGA
rs1172455518	p.Ile262Val	missense variant	-	NC_000013.11:g.20599510A>G	gnomAD
rs1297131976	p.Lys263Arg	missense variant	-	NC_000013.11:g.20599514A>G	TOPMed
rs1396243224	p.Tyr265Cys	missense variant	-	NC_000013.11:g.20599520A>G	gnomAD
rs199610348	p.Arg266Gln	missense variant	-	NC_000013.11:g.20599523G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs145868877	p.Arg266Ter	stop gained	-	NC_000013.11:g.20599522C>T	ESP,ExAC,gnomAD
rs199610348	p.Arg266Gln	missense variant	-	NC_000013.11:g.20599523G>A	NCI-TCGA,NCI-TCGA Cosmic
rs748087750	p.Leu269Ser	missense variant	-	NC_000013.11:g.20599532T>C	ExAC
NCI-TCGA novel	p.Asp270Tyr	missense variant	-	NC_000013.11:g.20599534G>T	NCI-TCGA
rs771777604	p.Gln271Ter	stop gained	-	NC_000013.11:g.20599537C>T	ExAC,TOPMed,gnomAD
rs1319897470	p.Pro273Ala	missense variant	-	NC_000013.11:g.20599543C>G	gnomAD
rs777308583	p.Pro273Leu	missense variant	-	NC_000013.11:g.20599544C>T	ExAC,TOPMed,gnomAD
rs1274972388	p.Ser274Thr	missense variant	-	NC_000013.11:g.20599547G>C	gnomAD
rs1435174536	p.Ser274Gly	missense variant	-	NC_000013.11:g.20599546A>G	gnomAD
NCI-TCGA novel	p.Ser274Arg	missense variant	-	NC_000013.11:g.20599546A>C	NCI-TCGA
rs746691205	p.Asn276Lys	missense variant	-	NC_000013.11:g.20599554T>G	ExAC,gnomAD
rs1431565647	p.Asn276Ser	missense variant	-	NC_000013.11:g.20599553A>G	gnomAD
rs1237942932	p.Lys277Arg	missense variant	-	NC_000013.11:g.20599556A>G	gnomAD
rs1354157265	p.Met279Ile	missense variant	-	NC_000013.11:g.20599563G>A	gnomAD
NCI-TCGA novel	p.Met279Ile	missense variant	-	NC_000013.11:g.20599563G>T	NCI-TCGA
rs200419751	p.Lys282Thr	missense variant	-	NC_000013.11:g.20601710A>C	1000Genomes,ExAC,gnomAD
rs754882392	p.Lys282Glu	missense variant	-	NC_000013.11:g.20601709A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ile283Val	missense variant	-	NC_000013.11:g.20601712A>G	NCI-TCGA
rs1226958823	p.Asn286Ser	missense variant	-	NC_000013.11:g.20601722A>G	gnomAD
rs752724237	p.Gly288Arg	missense variant	-	NC_000013.11:g.20601727G>A	ExAC,gnomAD
rs1377298049	p.Gly288Glu	missense variant	-	NC_000013.11:g.20601728G>A	TOPMed,gnomAD
rs1466602621	p.Gln293Ter	stop gained	-	NC_000013.11:g.20601742C>T	TOPMed
rs777172610	p.Gly295Ser	missense variant	-	NC_000013.11:g.20601748G>A	ExAC,gnomAD
rs777172610	p.Gly295Cys	missense variant	-	NC_000013.11:g.20601748G>T	ExAC,gnomAD
COSM1300059	p.Gln296Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.20601751C>T	NCI-TCGA Cosmic
rs1269198666	p.Tyr297Phe	missense variant	-	NC_000013.11:g.20601755A>T	TOPMed
rs770503048	p.Ser298Leu	missense variant	-	NC_000013.11:g.20601758C>T	ExAC,gnomAD
rs1273881473	p.Asp299Gly	missense variant	-	NC_000013.11:g.20601761A>G	gnomAD
rs549484080	p.Ile301Val	missense variant	-	NC_000013.11:g.20601766A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs771449493	p.Asn302Ser	missense variant	-	NC_000013.11:g.20601770A>G	ExAC,gnomAD
rs770183666	p.Ser303Leu	missense variant	-	NC_000013.11:g.20601773C>T	ExAC,gnomAD
rs749816231	p.Glu305Asp	missense variant	-	NC_000013.11:g.20601780G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu305Gly	missense variant	-	NC_000013.11:g.20601779A>G	NCI-TCGA
rs769108016	p.Ile307Val	missense variant	-	NC_000013.11:g.20601784A>G	ExAC,gnomAD
rs761898923	p.Met308Thr	missense variant	-	NC_000013.11:g.20601788T>C	ExAC,gnomAD
rs774295812	p.Met308Val	missense variant	-	NC_000013.11:g.20601787A>G	ExAC,gnomAD
NCI-TCGA novel	p.Ser309Asn	missense variant	-	NC_000013.11:g.20601791G>A	NCI-TCGA
rs1330543877	p.Met310Val	missense variant	-	NC_000013.11:g.20601793A>G	gnomAD
rs1397086115	p.Ala311Ser	missense variant	-	NC_000013.11:g.20601796G>T	gnomAD
rs773552521	p.Pro312Leu	missense variant	-	NC_000013.11:g.20601800C>T	ExAC,gnomAD
rs571225869	p.Asn313Ser	missense variant	-	NC_000013.11:g.20601803A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs571225869	p.Asn313Thr	missense variant	-	NC_000013.11:g.20601803A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1390692168	p.Leu314Gln	missense variant	-	NC_000013.11:g.20601806T>A	TOPMed
rs1428577956	p.Leu314Met	missense variant	-	NC_000013.11:g.20601805C>A	TOPMed
rs752493211	p.Ala316Ser	missense variant	-	NC_000013.11:g.20601811G>T	ExAC,gnomAD
rs1294162176	p.Gly317Ala	missense variant	-	NC_000013.11:g.20601815G>C	gnomAD
rs377583644	p.Tyr318Cys	missense variant	-	NC_000013.11:g.20601818A>G	ESP,ExAC,TOPMed,gnomAD
rs764026782	p.Asn319His	missense variant	-	NC_000013.11:g.20601820A>C	ExAC,TOPMed,gnomAD
rs764026782	p.Asn319Asp	missense variant	-	NC_000013.11:g.20601820A>G	ExAC,TOPMed,gnomAD
rs1167224683	p.Asn319Ser	missense variant	-	NC_000013.11:g.20601821A>G	TOPMed
rs1188159483	p.Ile322Ser	missense variant	-	NC_000013.11:g.20601830T>G	gnomAD
rs148997004	p.Ile322Val	missense variant	-	NC_000013.11:g.20601829A>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Tyr324Cys	missense variant	-	NC_000013.11:g.20601836A>G	NCI-TCGA
rs1419612144	p.Phe325Cys	missense variant	-	NC_000013.11:g.20601839T>G	gnomAD
rs1476658538	p.Phe325Leu	missense variant	-	NC_000013.11:g.20601840T>G	gnomAD
rs1169315885	p.Ile327Val	missense variant	-	NC_000013.11:g.20601844A>G	gnomAD
rs1373202233	p.Gly328Glu	missense variant	-	NC_000013.11:g.20601848G>A	gnomAD
rs775253163	p.Arg330Gln	missense variant	-	NC_000013.11:g.20601854G>A	ExAC,TOPMed,gnomAD
rs1463455191	p.Arg330Ter	stop gained	-	NC_000013.11:g.20601853C>T	TOPMed,gnomAD
rs943321085	p.Ala336Thr	missense variant	-	NC_000013.11:g.20601871G>A	gnomAD
rs943321085	p.Ala336Pro	missense variant	-	NC_000013.11:g.20601871G>C	gnomAD
rs755711708	p.Leu340Met	missense variant	-	NC_000013.11:g.20601883T>A	ExAC,gnomAD
rs1230188894	p.Leu340Trp	missense variant	-	NC_000013.11:g.20601884T>G	gnomAD
rs780425667	p.Leu340Phe	missense variant	-	NC_000013.11:g.20601885G>T	ExAC,gnomAD
COSM3813532	p.Leu340Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20601885G>C	NCI-TCGA Cosmic
rs1025019015	p.Ile341Thr	missense variant	-	NC_000013.11:g.20601887T>C	TOPMed
rs1344701969	p.Ile341Val	missense variant	-	NC_000013.11:g.20601886A>G	gnomAD
rs1193539634	p.Ile341Met	missense variant	-	NC_000013.11:g.20601888T>G	TOPMed
rs749583396	p.Thr342Ser	missense variant	-	NC_000013.11:g.20601890C>G	ExAC,gnomAD
rs749583396	p.Thr342Ile	missense variant	-	NC_000013.11:g.20601890C>T	ExAC,gnomAD
rs1260113585	p.Val343Leu	missense variant	-	NC_000013.11:g.20601892G>C	gnomAD
rs774983378	p.Pro344Ala	missense variant	-	NC_000013.11:g.20601895C>G	ExAC,TOPMed,gnomAD
rs774983378	p.Pro344Ser	missense variant	-	NC_000013.11:g.20601895C>T	ExAC,TOPMed,gnomAD
rs1192566331	p.Glu346Ter	stop gained	-	NC_000013.11:g.20601901G>T	gnomAD
rs1261727627	p.Glu346Ala	missense variant	-	NC_000013.11:g.20601902A>C	gnomAD
rs748602362	p.Asp348Asn	missense variant	-	NC_000013.11:g.20601907G>A	ExAC,gnomAD
rs761002503	p.Asp350Val	missense variant	-	NC_000013.11:g.20601914A>T	ExAC,gnomAD
rs1175272198	p.Asp350Glu	missense variant	-	NC_000013.11:g.20601915T>A	gnomAD
rs761002503	p.Asp350Gly	missense variant	-	NC_000013.11:g.20601914A>G	ExAC,gnomAD
rs773406317	p.Asp350Tyr	missense variant	-	NC_000013.11:g.20601913G>T	ExAC,gnomAD
rs1002324527	p.Ile353Asn	missense variant	-	NC_000013.11:g.20601923T>A	TOPMed
COSM945887	p.Ile353Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20601923T>G	NCI-TCGA Cosmic
rs766670349	p.Ser354Leu	missense variant	-	NC_000013.11:g.20601926C>T	ExAC,gnomAD
rs371180374	p.Pro355Thr	missense variant	-	NC_000013.11:g.20601928C>A	ExAC,TOPMed,gnomAD
rs538922747	p.Pro355Leu	missense variant	-	NC_000013.11:g.20601929C>T	1000Genomes,ExAC,gnomAD
rs371180374	p.Pro355Ser	missense variant	-	NC_000013.11:g.20601928C>T	ExAC,TOPMed,gnomAD
rs182766679	p.Ser356Asn	missense variant	-	NC_000013.11:g.20601932G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp357Asn	missense variant	-	NC_000013.11:g.20605035G>A	NCI-TCGA
rs759645619	p.His360Tyr	missense variant	-	NC_000013.11:g.20605044C>T	ExAC,gnomAD
rs1468552090	p.Thr361Ala	missense variant	-	NC_000013.11:g.20605047A>G	TOPMed,gnomAD
rs1215437675	p.Asn362Asp	missense variant	-	NC_000013.11:g.20605050A>G	gnomAD
rs768542720	p.Glu366Asp	missense variant	-	NC_000013.11:g.20605064A>C	ExAC,gnomAD
rs1304225975	p.Ala367Thr	missense variant	-	NC_000013.11:g.20605065G>A	TOPMed
rs761837934	p.Ile368Lys	missense variant	-	NC_000013.11:g.20605069T>A	ExAC,TOPMed,gnomAD
rs773966898	p.Ile368Val	missense variant	-	NC_000013.11:g.20605068A>G	ExAC,gnomAD
rs1177543594	p.Asp371Asn	missense variant	-	NC_000013.11:g.20605077G>A	gnomAD
rs767373782	p.His372Gln	missense variant	-	NC_000013.11:g.20605082C>G	ExAC,gnomAD
rs772217175	p.Leu373Val	missense variant	-	NC_000013.11:g.20605083C>G	TOPMed
rs772217175	p.Leu373Phe	missense variant	-	NC_000013.11:g.20605083C>T	TOPMed
rs749944804	p.Gln375Arg	missense variant	-	NC_000013.11:g.20605090A>G	ExAC,gnomAD
rs1003345707	p.Gln375Ter	stop gained	-	NC_000013.11:g.20605089C>T	TOPMed
rs760232648	p.Met376Thr	missense variant	-	NC_000013.11:g.20605093T>C	ExAC,gnomAD
rs765872691	p.Glu377Ala	missense variant	-	NC_000013.11:g.20605096A>C	ExAC,gnomAD
rs753533472	p.Arg378Ser	missense variant	-	NC_000013.11:g.20605098C>A	ExAC,gnomAD
rs187354596	p.Arg378His	missense variant	-	NC_000013.11:g.20605099G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs2442455	p.Met383Ile	missense variant	-	NC_000013.11:g.20615802G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200168455	p.Met383Lys	missense variant	-	NC_000013.11:g.20615801T>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000455077	p.Met383Ile	missense variant	-	NC_000013.11:g.20615802G>A	ClinVar
rs781452341	p.Ala384Val	missense variant	-	NC_000013.11:g.20615804C>T	ExAC,gnomAD
rs781452341	p.Ala384Glu	missense variant	-	NC_000013.11:g.20615804C>A	ExAC,gnomAD
rs1005036481	p.Lys386Arg	missense variant	-	NC_000013.11:g.20615810A>G	TOPMed
rs1168357808	p.Tyr387Asn	missense variant	-	NC_000013.11:g.20615812T>A	TOPMed
rs17856890	p.Ile388Phe	missense variant	-	NC_000013.11:g.20615815A>T	TOPMed,gnomAD
rs17856890	p.Ile388Val	missense variant	-	NC_000013.11:g.20615815A>G	TOPMed,gnomAD
rs756369243	p.Thr390Ile	missense variant	-	NC_000013.11:g.20615822C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala392Glu	missense variant	-	NC_000013.11:g.20615828C>A	NCI-TCGA
rs1325301474	p.Ala392Ser	missense variant	-	NC_000013.11:g.20615827G>T	gnomAD
rs367557180	p.Ile395Thr	missense variant	-	NC_000013.11:g.20615837T>C	ESP,ExAC,TOPMed,gnomAD
rs367557180	p.Ile395Asn	missense variant	-	NC_000013.11:g.20615837T>A	ESP,ExAC,TOPMed,gnomAD
rs1430865345	p.Ile395Val	missense variant	-	NC_000013.11:g.20615836A>G	gnomAD
rs749518522	p.Ala396Pro	missense variant	-	NC_000013.11:g.20615839G>C	ExAC,TOPMed,gnomAD
rs749518522	p.Ala396Thr	missense variant	-	NC_000013.11:g.20615839G>A	ExAC,TOPMed,gnomAD
COSM3384758	p.Ala396Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20615840C>A	NCI-TCGA Cosmic
rs1255279844	p.Pro397Ser	missense variant	-	NC_000013.11:g.20615842C>T	TOPMed
NCI-TCGA novel	p.Val398Gly	missense variant	-	NC_000013.11:g.20615846T>G	NCI-TCGA
NCI-TCGA novel	p.Ile399Asn	missense variant	-	NC_000013.11:g.20615849T>A	NCI-TCGA
rs771896937	p.Thr401Ile	missense variant	-	NC_000013.11:g.20615855C>T	ExAC,gnomAD
rs746974451	p.Ala405Thr	missense variant	-	NC_000013.11:g.20615866G>A	ExAC,gnomAD
rs746974451	p.Ala405Ser	missense variant	-	NC_000013.11:g.20615866G>T	ExAC,gnomAD
NCI-TCGA novel	p.Tyr407Cys	missense variant	-	NC_000013.11:g.20615873A>G	NCI-TCGA
rs145383209	p.Asp408Glu	missense variant	-	NC_000013.11:g.20615877T>A	ESP,ExAC,TOPMed,gnomAD
rs1243972221	p.Trp409Ter	stop gained	-	NC_000013.11:g.20615879G>A	gnomAD
rs1326049842	p.Cys410Tyr	missense variant	-	NC_000013.11:g.20625752G>A	gnomAD
rs774865616	p.Val411Met	missense variant	-	NC_000013.11:g.20625754G>A	ExAC,TOPMed,gnomAD
rs137918809	p.Val414Leu	missense variant	-	NC_000013.11:g.20625763G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs137918809	p.Val414Met	missense variant	-	NC_000013.11:g.20625763G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1281509940	p.Ala416Gly	missense variant	-	NC_000013.11:g.20625770C>G	gnomAD
rs941518598	p.Ser417Cys	missense variant	-	NC_000013.11:g.20625773C>G	TOPMed,gnomAD
rs1482059434	p.Ser417Thr	missense variant	-	NC_000013.11:g.20625772T>A	TOPMed
rs941518598	p.Ser417Phe	missense variant	-	NC_000013.11:g.20625773C>T	TOPMed,gnomAD
rs1196263503	p.Val420Gly	missense variant	-	NC_000013.11:g.20625782T>G	TOPMed
rs753880151	p.Glu421Ter	stop gained	-	NC_000013.11:g.20625784G>T	ExAC,gnomAD
rs367967021	p.Ala423Gly	missense variant	-	NC_000013.11:g.20625791C>G	ESP,ExAC,TOPMed,gnomAD
rs752903332	p.Asn424Ser	missense variant	-	NC_000013.11:g.20625794A>G	ExAC,gnomAD
rs1225586483	p.Asp425Glu	missense variant	-	NC_000013.11:g.20625798T>G	TOPMed
rs1180197132	p.Leu426Val	missense variant	-	NC_000013.11:g.20625799C>G	gnomAD
NCI-TCGA novel	p.Glu427Gln	missense variant	-	NC_000013.11:g.20625802G>C	NCI-TCGA
rs1474706850	p.Ala431Thr	missense variant	-	NC_000013.11:g.20625814G>A	gnomAD
rs757112173	p.Val432Ile	missense variant	-	NC_000013.11:g.20625817G>A	ExAC,TOPMed,gnomAD
COSM6138976	p.Val432Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20625817G>C	NCI-TCGA Cosmic
rs781011717	p.Thr433Lys	missense variant	-	NC_000013.11:g.20625821C>A	ExAC,gnomAD
rs1419478931	p.Thr433Ala	missense variant	-	NC_000013.11:g.20625820A>G	gnomAD
rs1473050785	p.Gln437Arg	missense variant	-	NC_000013.11:g.20625833A>G	TOPMed,gnomAD
rs1396877480	p.Lys438Glu	missense variant	-	NC_000013.11:g.20625835A>G	gnomAD
rs1310885063	p.Asp439Asn	missense variant	-	NC_000013.11:g.20625838G>A	gnomAD
rs1353772652	p.TyrAsn440Ter	stop gained	-	NC_000013.11:g.20625843_20625844del	gnomAD
rs749228909	p.Ala443Val	missense variant	-	NC_000013.11:g.20631017C>T	ExAC,gnomAD
rs768319283	p.Val444Ile	missense variant	-	NC_000013.11:g.20631019G>A	ExAC,gnomAD
rs768319283	p.Val444Leu	missense variant	-	NC_000013.11:g.20631019G>T	ExAC,gnomAD
COSM469234	p.Glu445Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20631024G>T	NCI-TCGA Cosmic
rs747827799	p.Ile446Leu	missense variant	-	NC_000013.11:g.20631025A>C	ExAC,TOPMed,gnomAD
rs373316646	p.Leu447Ile	missense variant	-	NC_000013.11:g.20631028T>A	ESP,ExAC,TOPMed,gnomAD
rs547326608	p.Glu451Gly	missense variant	-	NC_000013.11:g.20631041A>G	ExAC,TOPMed,gnomAD
rs547326608	p.Glu451Ala	missense variant	-	NC_000013.11:g.20631041A>C	ExAC,TOPMed,gnomAD
rs899601188	p.Lys453Arg	missense variant	-	NC_000013.11:g.20631047A>G	-
COSM1365755	p.Lys453ArgPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.20631041A>-	NCI-TCGA Cosmic
rs1454574170	p.Asp454His	missense variant	-	NC_000013.11:g.20631049G>C	TOPMed,gnomAD
rs9509307	p.Ser455Asn	missense variant	-	NC_000013.11:g.20631053G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000454792	p.Ser455Asn	missense variant	-	NC_000013.11:g.20631053G>A	ClinVar
NCI-TCGA novel	p.Arg456Thr	missense variant	-	NC_000013.11:g.20631056G>C	NCI-TCGA
COSM269352	p.Arg456Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20631055A>G	NCI-TCGA Cosmic
rs777188849	p.Val457Met	missense variant	-	NC_000013.11:g.20631058G>A	ExAC,gnomAD
rs760007756	p.Ser459Cys	missense variant	-	NC_000013.11:g.20631064A>T	ExAC,gnomAD
rs765352147	p.Ser459Arg	missense variant	-	NC_000013.11:g.20631066T>G	ExAC,TOPMed,gnomAD
rs1437825988	p.Ala460Val	missense variant	-	NC_000013.11:g.20631068C>T	gnomAD
NCI-TCGA novel	p.Ala461Pro	missense variant	-	NC_000013.11:g.20631070G>C	NCI-TCGA
COSM6138975	p.Ala462Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20631073G>T	NCI-TCGA Cosmic
rs1250560512	p.Thr463Ile	missense variant	-	NC_000013.11:g.20631077C>T	TOPMed
rs764319985	p.Thr463Ala	missense variant	-	NC_000013.11:g.20631076A>G	ExAC,gnomAD
rs1303926913	p.Asn464His	missense variant	-	NC_000013.11:g.20631079A>C	gnomAD
rs1314751217	p.Asn464Ser	missense variant	-	NC_000013.11:g.20631080A>G	TOPMed,gnomAD
rs751716540	p.Ala467Val	missense variant	-	NC_000013.11:g.20631089C>T	ExAC,gnomAD
rs766242235	p.Tyr470Cys	missense variant	-	NC_000013.11:g.20631098A>G	ExAC,TOPMed,gnomAD
rs753871853	p.Met471Val	missense variant	-	NC_000013.11:g.20631100A>G	ExAC,TOPMed
rs1252488333	p.Lys473Glu	missense variant	-	NC_000013.11:g.20638335A>G	TOPMed
rs752567355	p.Phe475Leu	missense variant	-	NC_000013.11:g.20638343T>A	ExAC,TOPMed,gnomAD
rs1270829941	p.Ala476Thr	missense variant	-	NC_000013.11:g.20638344G>A	gnomAD
NCI-TCGA novel	p.Ala476Val	missense variant	-	NC_000013.11:g.20638345C>T	NCI-TCGA
rs777117502	p.Ser480Asn	missense variant	-	NC_000013.11:g.20638357G>A	ExAC,gnomAD
rs1228085479	p.Ser480Gly	missense variant	-	NC_000013.11:g.20638356A>G	TOPMed
rs746725002	p.Tyr481Cys	missense variant	-	NC_000013.11:g.20638360A>G	ExAC,gnomAD
rs1484155950	p.Ala482Thr	missense variant	-	NC_000013.11:g.20638362G>A	gnomAD
rs756856359	p.Asp483Val	missense variant	-	NC_000013.11:g.20638366A>T	ExAC,TOPMed,gnomAD
rs138582529	p.Asp483His	missense variant	-	NC_000013.11:g.20638365G>C	ESP,TOPMed,gnomAD
rs138582529	p.Asp483Tyr	missense variant	-	NC_000013.11:g.20638365G>T	ESP,TOPMed,gnomAD
rs746171601	p.Ile484Met	missense variant	-	NC_000013.11:g.20638370A>G	ExAC,gnomAD
rs369442351	p.Ile484Arg	missense variant	-	NC_000013.11:g.20638369T>G	ESP,ExAC,TOPMed,gnomAD
rs369442351	p.Ile484Thr	missense variant	-	NC_000013.11:g.20638369T>C	ESP,ExAC,TOPMed,gnomAD
rs770130451	p.Val486Leu	missense variant	-	NC_000013.11:g.20638374G>T	ExAC,gnomAD
rs749723372	p.Asp489Asn	missense variant	-	NC_000013.11:g.20638383G>A	ExAC,gnomAD
rs973839736	p.Asp489Gly	missense variant	-	NC_000013.11:g.20638384A>G	TOPMed
COSM1300060	p.Asp489His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20638383G>C	NCI-TCGA Cosmic
rs918418210	p.Pro493Ser	missense variant	-	NC_000013.11:g.20638395C>T	TOPMed
NCI-TCGA novel	p.Pro493Leu	missense variant	-	NC_000013.11:g.20638396C>T	NCI-TCGA
rs1432423129	p.Asn498Ser	missense variant	-	NC_000013.11:g.20638411A>G	gnomAD
rs1311922022	p.Lys499Thr	missense variant	-	NC_000013.11:g.20638414A>C	gnomAD
rs372979556	p.Gly500Glu	missense variant	-	NC_000013.11:g.20638417G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Gly500Val	missense variant	-	NC_000013.11:g.20638417G>T	NCI-TCGA
rs762129374	p.Val503Phe	missense variant	-	NC_000013.11:g.20638425G>T	ExAC
NCI-TCGA novel	p.Val503Ala	missense variant	-	NC_000013.11:g.20638426T>C	NCI-TCGA
NCI-TCGA novel	p.Ala505Thr	missense variant	-	NC_000013.11:g.20638431G>A	NCI-TCGA
rs776584659	p.Gly507Ser	missense variant	-	NC_000013.11:g.20638437G>A	ExAC,gnomAD
rs759466614	p.Tyr509His	missense variant	-	NC_000013.11:g.20638443T>C	ExAC,TOPMed,gnomAD
rs1229614809	p.Glu510Val	missense variant	-	NC_000013.11:g.20638447A>T	gnomAD
rs1208938371	p.Glu510Lys	missense variant	-	NC_000013.11:g.20638446G>A	gnomAD
rs1279843651	p.Ala512Asp	missense variant	-	NC_000013.11:g.20638453C>A	gnomAD
rs551160953	p.Ala513Thr	missense variant	-	NC_000013.11:g.20638455G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Phe515Leu	missense variant	-	NC_000013.11:g.20638463C>A	NCI-TCGA
rs763684497	p.Tyr516Cys	missense variant	-	NC_000013.11:g.20638465A>G	ExAC,gnomAD
rs147424880	p.Lys517Glu	missense variant	-	NC_000013.11:g.20638467A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys517Ile	missense variant	-	NC_000013.11:g.20638468A>T	NCI-TCGA
rs780879691	p.Glu518Asp	missense variant	-	NC_000013.11:g.20638472G>C	ExAC,TOPMed,gnomAD
rs1237913864	p.Glu518Gln	missense variant	-	NC_000013.11:g.20638470G>C	TOPMed
rs1453004645	p.Ala519Pro	missense variant	-	NC_000013.11:g.20638473G>C	gnomAD
rs750071942	p.Leu520Val	missense variant	-	NC_000013.11:g.20638476C>G	ExAC,TOPMed,gnomAD
COSM945889	p.Arg521Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20638480G>T	NCI-TCGA Cosmic
rs1315604171	p.Cys526Arg	missense variant	-	NC_000013.11:g.20638494T>C	gnomAD
rs1344095972	p.Thr527Ser	missense variant	-	NC_000013.11:g.20638497A>T	gnomAD
rs1368464447	p.Asn532Ser	missense variant	-	NC_000013.11:g.20638513A>G	gnomAD
rs780256949	p.Asn532Asp	missense variant	-	NC_000013.11:g.20638512A>G	ExAC,gnomAD
rs143797877	p.Gly534Asp	missense variant	-	NC_000013.11:g.20641290G>A	ESP,ExAC,TOPMed,gnomAD
rs755524960	p.Leu535Val	missense variant	-	NC_000013.11:g.20641292C>G	ExAC,gnomAD
rs1229055620	p.Thr536Ala	missense variant	-	NC_000013.11:g.20641295A>G	gnomAD
rs537967756	p.Tyr537Cys	missense variant	-	NC_000013.11:g.20641299A>G	1000Genomes,ExAC,gnomAD
rs1268420195	p.Lys539Glu	missense variant	-	NC_000013.11:g.20641304A>G	gnomAD
rs747257976	p.Asn541Tyr	missense variant	-	NC_000013.11:g.20641310A>T	ExAC,gnomAD
rs1292305754	p.Asn541Ser	missense variant	-	NC_000013.11:g.20641311A>G	TOPMed
rs377167773	p.Arg542Gln	missense variant	-	NC_000013.11:g.20641314G>A	TOPMed
rs147278996	p.Arg542Gly	missense variant	-	NC_000013.11:g.20641313C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147278996	p.Arg542Trp	missense variant	-	NC_000013.11:g.20641313C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775367686	p.Leu543Pro	missense variant	-	NC_000013.11:g.20641317T>C	ExAC,TOPMed
rs768493302	p.Asp544Glu	missense variant	-	NC_000013.11:g.20641321T>G	ExAC,gnomAD
rs148732064	p.Asp544Val	missense variant	-	NC_000013.11:g.20641320A>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372847493	p.Ala546Val	missense variant	-	NC_000013.11:g.20641326C>T	ESP,ExAC,gnomAD
rs761712414	p.Asp548Asn	missense variant	-	NC_000013.11:g.20641331G>A	ExAC,gnomAD
rs1330644120	p.Cys549Tyr	missense variant	-	NC_000013.11:g.20641335G>A	TOPMed
COSM3885080	p.Lys552Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20641343A>G	NCI-TCGA Cosmic
rs1407975381	p.Leu553Val	missense variant	-	NC_000013.11:g.20641346C>G	TOPMed,gnomAD
rs767032591	p.Leu553Pro	missense variant	-	NC_000013.11:g.20641347T>C	ExAC,TOPMed,gnomAD
rs1407975381	p.Leu553Phe	missense variant	-	NC_000013.11:g.20641346C>T	TOPMed,gnomAD
rs772666195	p.His554Arg	missense variant	-	NC_000013.11:g.20641350A>G	ExAC,gnomAD
rs772666195	p.His554Leu	missense variant	-	NC_000013.11:g.20641350A>T	ExAC,gnomAD
rs1353657403	p.Ala555Val	missense variant	-	NC_000013.11:g.20641353C>T	gnomAD
rs146264538	p.Ala555Thr	missense variant	-	NC_000013.11:g.20641352G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1266578027	p.Ile556Thr	missense variant	-	NC_000013.11:g.20641356T>C	gnomAD
rs372386358	p.Arg558Ter	stop gained	-	NC_000013.11:g.20641361C>T	ESP,ExAC,TOPMed,gnomAD
rs372386358	p.Arg558Gly	missense variant	-	NC_000013.11:g.20641361C>G	ESP,ExAC,TOPMed,gnomAD
rs566601705	p.Arg558Gln	missense variant	-	NC_000013.11:g.20641362G>A	ExAC,TOPMed,gnomAD
rs753306486	p.Asn559His	missense variant	-	NC_000013.11:g.20641364A>C	ExAC,gnomAD
rs758926941	p.Ser560Ile	missense variant	-	NC_000013.11:g.20641368G>T	ExAC,gnomAD
rs777984685	p.Glu562Gln	missense variant	-	NC_000013.11:g.20641373G>C	ExAC,TOPMed,gnomAD
rs777984685	p.Glu562Lys	missense variant	-	NC_000013.11:g.20641373G>A	ExAC,TOPMed,gnomAD
rs139357654	p.Glu562Ala	missense variant	-	NC_000013.11:g.20641374A>C	ESP,ExAC,TOPMed,gnomAD
rs1276605866	p.Leu564Val	missense variant	-	NC_000013.11:g.20641379C>G	TOPMed,gnomAD
rs749566598	p.Tyr565Ser	missense variant	-	NC_000013.11:g.20641383A>C	TOPMed
rs749566598	p.Tyr565Cys	missense variant	-	NC_000013.11:g.20641383A>G	TOPMed
rs4145579	p.Tyr565Ter	stop gained	-	NC_000013.11:g.20641384C>G	ExAC,gnomAD
rs1370101065	p.Gln566His	missense variant	-	NC_000013.11:g.20641387G>T	gnomAD
rs768385474	p.Ile567Met	missense variant	-	NC_000013.11:g.20641390A>G	ExAC,gnomAD
rs774079711	p.Ala568Thr	missense variant	-	NC_000013.11:g.20641391G>A	ExAC,TOPMed,gnomAD
rs748111385	p.Asn569Asp	missense variant	-	NC_000013.11:g.20641394A>G	ExAC,gnomAD
rs1430576937	p.Ile570Thr	missense variant	-	NC_000013.11:g.20641398T>C	gnomAD
NCI-TCGA novel	p.Ile570Val	missense variant	-	NC_000013.11:g.20641397A>G	NCI-TCGA
NCI-TCGA novel	p.Tyr571Asp	missense variant	-	NC_000013.11:g.20643456T>G	NCI-TCGA
COSM3793178	p.Glu572Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20643459G>A	NCI-TCGA Cosmic
rs746935260	p.Met574Thr	missense variant	-	NC_000013.11:g.20643466T>C	ExAC,gnomAD
rs746935260	p.Met574Lys	missense variant	-	NC_000013.11:g.20643466T>A	ExAC,gnomAD
COSM1477125	p.Met574Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20643467G>A	NCI-TCGA Cosmic
rs1268341937	p.Pro577Ser	missense variant	-	NC_000013.11:g.20643474C>T	TOPMed
rs1455309085	p.Ser578Gly	missense variant	-	NC_000013.11:g.20643477A>G	gnomAD
rs776162848	p.Gln579Ter	stop gained	-	NC_000013.11:g.20643480C>T	ExAC,gnomAD
rs776162848	p.Gln579Lys	missense variant	-	NC_000013.11:g.20643480C>A	ExAC,gnomAD
rs1204438115	p.Gln579Arg	missense variant	-	NC_000013.11:g.20643481A>G	TOPMed,gnomAD
rs776162848	p.Gln579Glu	missense variant	-	NC_000013.11:g.20643480C>G	ExAC,gnomAD
rs1199890768	p.Ala580Thr	missense variant	-	NC_000013.11:g.20643483G>A	TOPMed
rs1466237015	p.Ile581Met	missense variant	-	NC_000013.11:g.20643488T>G	gnomAD
rs763475487	p.Val587Met	missense variant	-	NC_000013.11:g.20643504G>A	ExAC,gnomAD
rs764519805	p.Val587Ala	missense variant	-	NC_000013.11:g.20643505T>C	ExAC,gnomAD
NCI-TCGA novel	p.Val588Ile	missense variant	-	NC_000013.11:g.20643507G>A	NCI-TCGA
rs752051994	p.Ser589Ile	missense variant	-	NC_000013.11:g.20643511G>T	ExAC,gnomAD
rs1261745517	p.Ser589Gly	missense variant	-	NC_000013.11:g.20643510A>G	TOPMed
rs767524689	p.Ile591Thr	missense variant	-	NC_000013.11:g.20643517T>C	ExAC,gnomAD
rs750449166	p.Thr593Pro	missense variant	-	NC_000013.11:g.20643522A>C	ExAC,gnomAD
rs750449166	p.Thr593Ala	missense variant	-	NC_000013.11:g.20643522A>G	ExAC,gnomAD
rs146631055	p.Asp594Asn	missense variant	-	NC_000013.11:g.20643525G>A	ESP,ExAC,gnomAD
rs1367360712	p.Val597Leu	missense variant	-	NC_000013.11:g.20643534G>C	gnomAD
COSM6074471	p.Val597Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20643534G>T	NCI-TCGA Cosmic
rs140243413	p.Leu598Phe	missense variant	-	NC_000013.11:g.20643539A>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ser599Phe	missense variant	-	NC_000013.11:g.20643541C>T	NCI-TCGA
rs1302992478	p.Lys600Glu	missense variant	-	NC_000013.11:g.20643543A>G	gnomAD
NCI-TCGA novel	p.Glu603Ter	stop gained	-	NC_000013.11:g.20643552G>T	NCI-TCGA
rs1314804176	p.Tyr605His	missense variant	-	NC_000013.11:g.20643558T>C	gnomAD
rs746946612	p.Tyr605Cys	missense variant	-	NC_000013.11:g.20643559A>G	ExAC,TOPMed,gnomAD
rs746946612	p.Tyr605Phe	missense variant	-	NC_000013.11:g.20643559A>T	ExAC,TOPMed,gnomAD
rs770865557	p.Asp606Gly	missense variant	-	NC_000013.11:g.20643562A>G	ExAC
rs369672253	p.Arg607Ser	missense variant	-	NC_000013.11:g.20643564C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs188470141	p.Arg607Pro	missense variant	-	NC_000013.11:g.20643565G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs188470141	p.Arg607His	missense variant	-	NC_000013.11:g.20643565G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs369672253	p.Arg607Cys	missense variant	-	NC_000013.11:g.20643564C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg607Leu	missense variant	-	NC_000013.11:g.20643565G>T	NCI-TCGA
rs775319781	p.Gly609Glu	missense variant	-	NC_000013.11:g.20643571G>A	ExAC,gnomAD
rs1192747967	p.Ala614Ser	missense variant	-	NC_000013.11:g.20643585G>T	gnomAD
rs1181540046	p.Tyr619His	missense variant	-	NC_000013.11:g.20643600T>C	gnomAD
rs373094049	p.Tyr619Cys	missense variant	-	NC_000013.11:g.20643601A>G	ESP,ExAC,TOPMed,gnomAD
rs1424959430	p.Ser621Leu	missense variant	-	NC_000013.11:g.20644844C>T	gnomAD
rs1353135343	p.Tyr622Cys	missense variant	-	NC_000013.11:g.20644847A>G	gnomAD
rs1478634020	p.Arg623Lys	missense variant	-	NC_000013.11:g.20644850G>A	gnomAD
rs1308291155	p.Arg623Ser	missense variant	-	NC_000013.11:g.20644851G>T	gnomAD
rs1372065523	p.Tyr624Ter	stop gained	-	NC_000013.11:g.20644854T>A	gnomAD
rs779659140	p.Phe625Leu	missense variant	-	NC_000013.11:g.20644857T>A	ExAC,gnomAD
rs1283149888	p.Pro626Ser	missense variant	-	NC_000013.11:g.20644858C>T	gnomAD
rs1379795395	p.Ile629Val	missense variant	-	NC_000013.11:g.20644867A>G	gnomAD
rs1229961493	p.Glu630Lys	missense variant	-	NC_000013.11:g.20644870G>A	gnomAD
rs1293111587	p.Ile632Thr	missense variant	-	NC_000013.11:g.20644877T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu633Lys	missense variant	-	NC_000013.11:g.20644879G>A	NCI-TCGA
rs748976581	p.Glu633Ter	stop gained	-	NC_000013.11:g.20644879G>T	ExAC,gnomAD
rs1009279123	p.Trp634Ter	stop gained	-	NC_000013.11:g.20644884G>A	gnomAD
rs1009279123	p.Trp634Cys	missense variant	-	NC_000013.11:g.20644884G>T	gnomAD
rs76768372	p.Gly636Ter	stop gained	-	NC_000013.11:g.20644888G>T	ExAC,gnomAD
rs143955467	p.Ala637Ser	missense variant	-	NC_000013.11:g.20644891G>T	ESP,ExAC,TOPMed,gnomAD
rs748603147	p.Tyr638Cys	missense variant	-	NC_000013.11:g.20644895A>G	ExAC,gnomAD
rs1410490930	p.Tyr639Cys	missense variant	-	NC_000013.11:g.20644898A>G	TOPMed,gnomAD
rs748805100	p.Tyr639Ter	stop gained	-	NC_000013.11:g.20644898dup	ExAC,gnomAD
rs1350934184	p.Ile640Thr	missense variant	-	NC_000013.11:g.20644901T>C	TOPMed
NCI-TCGA novel	p.Ile640Val	missense variant	-	NC_000013.11:g.20644900A>G	NCI-TCGA
rs772318137	p.Gln643Ter	stop gained	-	NC_000013.11:g.20644909C>T	ExAC,gnomAD
rs773811832	p.Gln643His	missense variant	-	NC_000013.11:g.20644911A>T	ExAC,TOPMed,gnomAD
rs1449208852	p.Gln643Arg	missense variant	-	NC_000013.11:g.20644910A>G	gnomAD
COSM695828	p.Phe644Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20644912T>A	NCI-TCGA Cosmic
rs1391613918	p.Glu646Asp	missense variant	-	NC_000013.11:g.20644920A>C	gnomAD
rs761148529	p.Lys647Thr	missense variant	-	NC_000013.11:g.20644922A>C	ExAC,gnomAD
rs975454884	p.Ala648Thr	missense variant	-	NC_000013.11:g.20644924G>A	TOPMed
rs766469865	p.Ile649Val	missense variant	-	NC_000013.11:g.20644927A>G	ExAC,TOPMed,gnomAD
rs1450074277	p.Gln650Glu	missense variant	-	NC_000013.11:g.20644930C>G	gnomAD
rs759762441	p.Phe652Leu	missense variant	-	NC_000013.11:g.20644938T>G	ExAC,TOPMed,gnomAD
rs759762441	p.Phe652Leu	missense variant	-	NC_000013.11:g.20644938T>A	ExAC,TOPMed,gnomAD
rs765444887	p.Ser656Phe	missense variant	-	NC_000013.11:g.20644949C>T	ExAC,gnomAD
COSM945892	p.Ser656Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20644949C>A	NCI-TCGA Cosmic
rs752851395	p.Ile658Leu	missense variant	-	NC_000013.11:g.20644954A>T	ExAC,gnomAD
rs757112994	p.Ile658Thr	missense variant	-	NC_000013.11:g.20644955T>C	ExAC,TOPMed,gnomAD
rs750405430	p.Gln659Arg	missense variant	-	NC_000013.11:g.20644958A>G	ExAC,gnomAD
rs146456229	p.Pro660Leu	missense variant	-	NC_000013.11:g.20653878C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro660Ser	missense variant	-	NC_000013.11:g.20653877C>T	NCI-TCGA
rs1246908807	p.Thr661Ala	missense variant	-	NC_000013.11:g.20653880A>G	gnomAD
rs1478840420	p.Trp665Ter	stop gained	-	NC_000013.11:g.20653894G>A	gnomAD
rs1179383894	p.Gln666Lys	missense variant	-	NC_000013.11:g.20653895C>A	gnomAD
rs1410589533	p.Gln666His	missense variant	-	NC_000013.11:g.20653897G>C	gnomAD
NCI-TCGA novel	p.Val669Ile	missense variant	-	NC_000013.11:g.20653904G>A	NCI-TCGA
rs1388539905	p.Ala670Pro	missense variant	-	NC_000013.11:g.20653907G>C	gnomAD
rs9552254	p.Ser671Gly	missense variant	-	NC_000013.11:g.20653910A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs79942385	p.Cys672Ser	missense variant	-	NC_000013.11:g.20653914G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1330337298	p.Arg674Lys	missense variant	-	NC_000013.11:g.20653920G>A	TOPMed
rs766482070	p.Arg674Gly	missense variant	-	NC_000013.11:g.20653919A>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg674Ile	missense variant	-	NC_000013.11:g.20653920G>T	NCI-TCGA
rs1037071480	p.Ser676Arg	missense variant	-	NC_000013.11:g.20653925A>C	TOPMed
rs1339032254	p.Gly677Asp	missense variant	-	NC_000013.11:g.20656365G>A	TOPMed
rs1296554556	p.Asn678Asp	missense variant	-	NC_000013.11:g.20656367A>G	TOPMed
rs1472259377	p.Asn678Ser	missense variant	-	NC_000013.11:g.20656368A>G	TOPMed,gnomAD
rs777464164	p.Tyr679Ter	stop gained	-	NC_000013.11:g.20656372C>A	ExAC,gnomAD
rs751211754	p.Gln680Pro	missense variant	-	NC_000013.11:g.20656374A>C	ExAC,gnomAD
rs1052657687	p.Lys681Arg	missense variant	-	NC_000013.11:g.20656377A>G	TOPMed,gnomAD
rs974478747	p.Asp684Asn	missense variant	-	NC_000013.11:g.20656385G>A	TOPMed,gnomAD
rs1440168958	p.Asp688Val	missense variant	-	NC_000013.11:g.20656398A>T	TOPMed
rs1415621049	p.Thr689Pro	missense variant	-	NC_000013.11:g.20656400A>C	gnomAD
rs74996961	p.His690Gln	missense variant	-	NC_000013.11:g.20656405C>G	ESP,ExAC,TOPMed,gnomAD
rs757661778	p.His690Arg	missense variant	-	NC_000013.11:g.20656404A>G	ExAC,gnomAD
rs1347598775	p.His690Asp	missense variant	-	NC_000013.11:g.20656403C>G	TOPMed
rs536388232	p.Phe693Ser	missense variant	-	NC_000013.11:g.20656413T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs376845716	p.Asn696Asp	missense variant	-	NC_000013.11:g.20656421A>G	ESP,ExAC,TOPMed,gnomAD
rs140279679	p.Val697Ile	missense variant	-	NC_000013.11:g.20656424G>A	ESP,ExAC,gnomAD
rs1192015021	p.Leu700Met	missense variant	-	NC_000013.11:g.20663500C>A	TOPMed
rs143840290	p.Arg701His	missense variant	-	NC_000013.11:g.20663504G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs755503677	p.Arg701Cys	missense variant	-	NC_000013.11:g.20663503C>T	ExAC,TOPMed,gnomAD
rs748181737	p.Arg705Cys	missense variant	-	NC_000013.11:g.20663515C>T	ExAC,TOPMed,gnomAD
rs373832683	p.Arg705Pro	missense variant	-	NC_000013.11:g.20663516G>C	ESP,ExAC,TOPMed,gnomAD
rs373832683	p.Arg705His	missense variant	-	NC_000013.11:g.20663516G>A	ESP,ExAC,TOPMed,gnomAD
rs777928903	p.Leu706Phe	missense variant	-	NC_000013.11:g.20663518C>T	ExAC,gnomAD
rs747226088	p.Thr708Ala	missense variant	-	NC_000013.11:g.20663524A>G	ExAC,gnomAD
rs769528440	p.Asp709Tyr	missense variant	-	NC_000013.11:g.20663527G>T	ExAC,gnomAD
rs769528440	p.Asp709His	missense variant	-	NC_000013.11:g.20663527G>C	ExAC,gnomAD
rs964369430	p.Leu710Val	missense variant	-	NC_000013.11:g.20663530C>G	TOPMed,gnomAD
rs556520455	p.Glu717Lys	missense variant	-	NC_000013.11:g.20663551G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs556520455	p.Glu717Ter	stop gained	-	NC_000013.11:g.20663551G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs774255357	p.Tyr718His	missense variant	-	NC_000013.11:g.20663554T>C	ExAC,TOPMed,gnomAD
COSM1365758	p.Arg720Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20663562A>C	NCI-TCGA Cosmic
rs1445674871	p.Leu725Val	missense variant	-	NC_000013.11:g.20663575T>G	TOPMed,gnomAD
rs767023085	p.Lys727Gln	missense variant	-	NC_000013.11:g.20663581A>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys727AsnPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.20663582_20663583insTTATAATTATTTGTCTGTTAGT	NCI-TCGA
rs1379865061	p.Met728Leu	missense variant	-	NC_000013.11:g.20663584A>T	gnomAD
NCI-TCGA novel	p.Met728Ter	frameshift	-	NC_000013.11:g.20663579A>-	NCI-TCGA
NCI-TCGA novel	p.Glu730Gln	missense variant	-	NC_000013.11:g.20663590G>C	NCI-TCGA
COSM945894	p.Glu730Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.20663590G>T	NCI-TCGA Cosmic
rs1295219404	p.Ile731Arg	missense variant	-	NC_000013.11:g.20663594T>G	gnomAD
rs772787348	p.Ile731Val	missense variant	-	NC_000013.11:g.20663593A>G	ExAC,TOPMed,gnomAD
rs766687371	p.Gln734Arg	missense variant	-	NC_000013.11:g.20663603A>G	ExAC,TOPMed,gnomAD
rs1032388633	p.Gln734Ter	stop gained	-	NC_000013.11:g.20663602C>T	TOPMed,gnomAD
rs373718900	p.Arg735Cys	missense variant	-	NC_000013.11:g.20670973C>T	ESP,ExAC,TOPMed,gnomAD
rs78898843	p.Arg735His	missense variant	-	NC_000013.11:g.20670974G>A	ExAC,TOPMed,gnomAD
rs373718900	p.Arg735Ser	missense variant	-	NC_000013.11:g.20670973C>A	ESP,ExAC,TOPMed,gnomAD
rs373718900	p.Arg735Gly	missense variant	-	NC_000013.11:g.20670973C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg735TyrPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.20663604_20663605insTATATTT	NCI-TCGA
rs1464701744	p.Ile736Leu	missense variant	-	NC_000013.11:g.20670976A>T	gnomAD
rs1461483311	p.Ile736Met	missense variant	-	NC_000013.11:g.20670978A>G	gnomAD
rs1360419319	p.Ser738Leu	missense variant	-	NC_000013.11:g.20670983C>T	TOPMed
rs147235446	p.Gly739Ser	missense variant	-	NC_000013.11:g.20670985G>A	ESP,ExAC,gnomAD
rs772737341	p.Gly739Asp	missense variant	-	NC_000013.11:g.20670986G>A	ExAC,gnomAD
rs1476873767	p.Ser743Asn	missense variant	-	NC_000013.11:g.20670998G>A	gnomAD
COSM1365759	p.Ser746LeuPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000013.11:g.20670999_20671000insG	NCI-TCGA Cosmic
rs544175473	p.Arg747His	missense variant	-	NC_000013.11:g.20671010G>A	ExAC,TOPMed,gnomAD
rs770559035	p.Arg747Cys	missense variant	-	NC_000013.11:g.20671009C>T	ExAC,TOPMed,gnomAD
rs1324025239	p.Lys749Glu	missense variant	-	NC_000013.11:g.20671015A>G	TOPMed
rs753310520	p.Glu751Gln	missense variant	-	NC_000013.11:g.20671021G>C	ExAC,TOPMed,gnomAD
rs763471939	p.Gly752Glu	missense variant	-	NC_000013.11:g.20671025G>A	ExAC,gnomAD
rs1347178523	p.Ala754Val	missense variant	-	NC_000013.11:g.20671031C>T	gnomAD
rs764082843	p.Ser755Ile	missense variant	-	NC_000013.11:g.20671034G>T	ExAC,TOPMed,gnomAD
rs764082843	p.Ser755Thr	missense variant	-	NC_000013.11:g.20671034G>C	ExAC,TOPMed,gnomAD
rs202072254	p.Ser755Arg	missense variant	-	NC_000013.11:g.20671035C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1225473074	p.Gly756Asp	missense variant	-	NC_000013.11:g.20671037G>A	gnomAD
rs757268801	p.Gly756Ser	missense variant	-	NC_000013.11:g.20671036G>A	ExAC,TOPMed,gnomAD
rs770308243	p.Asp757Gly	missense variant	-	NC_000013.11:g.20690705A>G	ExAC,gnomAD
rs1251775666	p.Asp757Asn	missense variant	-	NC_000013.11:g.20671039G>A	TOPMed
rs138716049	p.Gly759Ser	missense variant	-	NC_000013.11:g.20690710G>A	ESP,ExAC,TOPMed,gnomAD
rs138716049	p.Gly759Cys	missense variant	-	NC_000013.11:g.20690710G>T	ESP,ExAC,TOPMed,gnomAD
rs764715617	p.Asn761Ser	missense variant	-	NC_000013.11:g.20690717A>G	ExAC,TOPMed,gnomAD
rs566137469	p.Tyr762Cys	missense variant	-	NC_000013.11:g.20690720A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs767561703	p.Ser763Asn	missense variant	-	NC_000013.11:g.20690723G>A	ExAC,gnomAD
rs1386085104	p.Ser765Gly	missense variant	-	NC_000013.11:g.20690728A>G	gnomAD
rs756288774	p.Ser766Thr	missense variant	-	NC_000013.11:g.20690732G>C	ExAC,gnomAD
rs746017151	p.Glu769Ala	missense variant	-	NC_000013.11:g.20690741A>C	TOPMed
rs746017151	p.Glu769Gly	missense variant	-	NC_000013.11:g.20690741A>G	TOPMed
rs752479820	p.Arg770Ter	stop gained	-	NC_000013.11:g.20690743C>T	ExAC,TOPMed,gnomAD
rs1366987913	p.Leu771Pro	missense variant	-	NC_000013.11:g.20690747T>C	TOPMed
rs1366987913	p.Leu771Gln	missense variant	-	NC_000013.11:g.20690747T>A	TOPMed
rs144721929	p.Leu771Val	missense variant	-	NC_000013.11:g.20690746C>G	ESP,ExAC,TOPMed,gnomAD
rs1429504394	p.Ser772Thr	missense variant	-	NC_000013.11:g.20690750G>C	TOPMed
rs777835152	p.Ser772Gly	missense variant	-	NC_000013.11:g.20690749A>G	ExAC,gnomAD
rs1188776994	p.Arg776Gly	missense variant	-	NC_000013.11:g.20690761A>G	TOPMed
rs902158703	p.Leu778Phe	missense variant	-	NC_000013.11:g.20690769A>C	TOPMed,gnomAD
rs756844455	p.Leu778Ter	stop gained	-	NC_000013.11:g.20690768T>G	ExAC,gnomAD
rs745550205	p.Pro779Arg	missense variant	-	NC_000013.11:g.20690771C>G	ExAC,gnomAD
rs780802564	p.Pro779Ser	missense variant	-	NC_000013.11:g.20690770C>T	ExAC,gnomAD
rs764717392	p.Thr781Ile	missense variant	-	NC_000013.11:g.20690777C>T	gnomAD
rs1246663885	p.Asn782Ser	missense variant	-	NC_000013.11:g.20690780A>G	TOPMed
rs999175571	p.Glu783Gly	missense variant	-	NC_000013.11:g.20690783A>G	TOPMed
rs1276395362	p.Tyr785Cys	missense variant	-	NC_000013.11:g.20690789A>G	gnomAD
NCI-TCGA novel	p.Ser787AsnPheSerTerUnkUnk	frameshift	-	NC_000013.11:g.20690794_20690795insACACGAAAATAAAAATGCATTTGTTTAATAT	NCI-TCGA
COSM4938003	p.Ser787Gly	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20690794A>G	NCI-TCGA Cosmic
rs1183896713	p.Ser788Gly	missense variant	-	NC_000013.11:g.20690797A>G	gnomAD
rs775264617	p.Ser789Asn	missense variant	-	NC_000013.11:g.20690801G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser789Arg	missense variant	-	NC_000013.11:g.20690802T>A	NCI-TCGA
rs1186946062	p.Asn790Asp	missense variant	-	NC_000013.11:g.20690803A>G	gnomAD
rs1372765748	p.Lys791Glu	missense variant	-	NC_000013.11:g.20690806A>G	TOPMed,gnomAD
rs749726010	p.Lys791Arg	missense variant	-	NC_000013.11:g.20690807A>G	ExAC,TOPMed,gnomAD
rs372033430	p.Ile793Lys	missense variant	-	NC_000013.11:g.20690813T>A	ESP,ExAC,gnomAD
rs1320956544	p.Ala795Gly	missense variant	-	NC_000013.11:g.20691057C>G	gnomAD
rs369560434	p.Ser796Cys	missense variant	-	NC_000013.11:g.20691060C>G	ESP,ExAC,TOPMed,gnomAD
rs369560434	p.Ser796Phe	missense variant	-	NC_000013.11:g.20691060C>T	ESP,ExAC,TOPMed,gnomAD
rs773696145	p.Tyr797Phe	missense variant	-	NC_000013.11:g.20691063A>T	ExAC,gnomAD
rs773696145	p.Tyr797Ser	missense variant	-	NC_000013.11:g.20691063A>C	ExAC,gnomAD
rs773696145	p.Tyr797Cys	missense variant	-	NC_000013.11:g.20691063A>G	ExAC,gnomAD
COSM1365760	p.Gly802Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20691078G>A	NCI-TCGA Cosmic
rs759631317	p.Pro803Arg	missense variant	-	NC_000013.11:g.20691081C>G	ExAC,gnomAD
rs1261099178	p.Gln804Glu	missense variant	-	NC_000013.11:g.20691083C>G	gnomAD
rs763983824	p.Ile805Leu	missense variant	-	NC_000013.11:g.20691086A>C	ExAC,gnomAD
rs1158458042	p.Glu806Gln	missense variant	-	NC_000013.11:g.20691089G>C	TOPMed
rs1207144939	p.Glu806Gly	missense variant	-	NC_000013.11:g.20691090A>G	gnomAD
rs751249957	p.Arg807Ter	stop gained	-	NC_000013.11:g.20691092C>T	ExAC,gnomAD
rs148569265	p.Arg807Gln	missense variant	-	NC_000013.11:g.20691093G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg807Leu	missense variant	-	NC_000013.11:g.20691093G>T	NCI-TCGA
rs776916841	p.Pro808Ser	missense variant	-	NC_000013.11:g.20691095C>T	ExAC,TOPMed,gnomAD
rs776916841	p.Pro808Thr	missense variant	-	NC_000013.11:g.20691095C>A	ExAC,TOPMed,gnomAD
rs967166357	p.Ala811Val	missense variant	-	NC_000013.11:g.20691105C>T	TOPMed
rs779381228	p.Ala811Ser	missense variant	-	NC_000013.11:g.20691104G>T	ExAC,gnomAD
rs754520106	p.Arg815Lys	missense variant	-	NC_000013.11:g.20691117G>A	ExAC,gnomAD
rs779347692	p.Ile816Thr	missense variant	-	NC_000013.11:g.20691120T>C	ExAC,gnomAD
rs765834236	p.Ile816Val	missense variant	-	NC_000013.11:g.20691119A>G	gnomAD
rs141704239	p.Asp817Ala	missense variant	-	NC_000013.11:g.20691123A>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs748571032	p.Asp817Asn	missense variant	-	NC_000013.11:g.20691122G>A	ExAC,TOPMed,gnomAD
rs1348482594	p.Glu818Lys	missense variant	-	NC_000013.11:g.20691125G>A	gnomAD
rs778294809	p.Asp819Glu	missense variant	-	NC_000013.11:g.20691130T>A	ExAC,gnomAD
NCI-TCGA novel	p.Asp820Asn	missense variant	-	NC_000013.11:g.20691131G>A	NCI-TCGA
COSM6074470	p.Asp823His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000013.11:g.20691140G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu824Ter	stop gained	-	NC_000013.11:g.20691143G>T	NCI-TCGA
rs1263697542	p.Glu825Gln	missense variant	-	NC_000013.11:g.20691146G>C	TOPMed
rs771024026	p.Gly827Glu	missense variant	-	NC_000013.11:g.20691153G>A	ExAC,gnomAD
rs747493878	p.Gly827Arg	missense variant	-	NC_000013.11:g.20691152G>A	ExAC,TOPMed,gnomAD
rs570887983	p.Asp828Val	missense variant	-	NC_000013.11:g.20691156A>T	1000Genomes,ExAC,gnomAD
rs532025198	p.Asp829Asn	missense variant	-	NC_000013.11:g.20691158G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs532025198	p.Asp829Tyr	missense variant	-	NC_000013.11:g.20691158G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs769854194	p.Glu833Gln	missense variant	-	NC_000013.11:g.20691170G>C	ExAC,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002940	Aneurysm	phenotype	BEFREE
C0022679	Cystic kidney	disease	BEFREE
C0022680	Polycystic Kidney Diseases	group	BEFREE
C0023903	Liver neoplasms	group	BEFREE;CTD_human
C0032927	Precancerous Conditions	group	CTD_human
C0085413	Polycystic Kidney, Autosomal Dominant	disease	BEFREE
C0085548	Autosomal Recessive Polycystic Kidney Disease	disease	BEFREE;CTD_human;MGD
C0152427	Polydactyly	disease	CTD_human
C0158646	Cleft palate with cleft lip	disease	BEFREE
C0220630	Adult Liver Carcinoma	disease	BEFREE
C0235590	Fibrosing adenosis	disease	BEFREE
C0238198	Gastrointestinal Stromal Tumors	group	CTD_human
C0266453	Exencephaly	disease	BEFREE
C0279000	Liver and Intrahepatic Biliary Tract Carcinoma	disease	BEFREE
C0282313	Condition, Preneoplastic	phenotype	CTD_human
C0345904	Malignant neoplasm of liver	disease	BEFREE;CTD_human
C0596263	Carcinogenesis	phenotype	BEFREE
C1292778	Chronic myeloproliferative disorder	disease	BEFREE
C1335931	Breast Sclerosing Adenosis	disease	BEFREE
C2239176	Liver carcinoma	disease	BEFREE
C3179349	Gastrointestinal Stromal Sarcoma	disease	CTD_human
C3887499	Renal cyst	phenotype	BEFREE
C4277690	Ciliopathies	group	BEFREE

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0005515	protein binding	IPI
GO:0019894	kinesin binding	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0001822	kidney development	IBA
GO:0035735	intraciliary transport involved in cilium assembly	TAS
GO:0042073	intraciliary transport	IBA
GO:0060122	inner ear receptor cell stereocilium organization	IBA
GO:0060271	cilium assembly	ISS
GO:1902017	regulation of cilium assembly	ISS
GO:1905515	non-motile cilium assembly	IBA
GO:2000785	regulation of autophagosome assembly	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IEA
GO:0005813	centrosome	IDA
GO:0005814	centriole	ISS
GO:0005814	centriole	IBA
GO:0005814	centriole	IDA
GO:0005929	cilium	ISS
GO:0005929	cilium	IDA
GO:0005929	cilium	TAS
GO:0030992	intraciliary transport particle B	ISS
GO:0031514	motile cilium	ISS
GO:0036064	ciliary basal body	ISS
GO:0036064	ciliary basal body	IBA
GO:0036064	ciliary basal body	IDA
GO:0036126	sperm flagellum	ISS
GO:0097542	ciliary tip	TAS
GO:0097546	ciliary base	IBA
GO:0097730	non-motile cilium	IBA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-1632852	Macroautophagy	TAS
R-HSA-1632852	Macroautophagy	IEA
R-HSA-1852241	Organelle biogenesis and maintenance	TAS
R-HSA-1852241	Organelle biogenesis and maintenance	IEA
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5610787	Hedgehog 'off' state	TAS
R-HSA-5617833	Cilium Assembly	TAS
R-HSA-5617833	Cilium Assembly	IEA
R-HSA-5620924	Intraflagellar transport	TAS
R-HSA-5620924	Intraflagellar transport	IEA
R-HSA-9612973	Autophagy	IEA
R-HSA-9612973	Autophagy	TAS
R-HSA-9613829	Chaperone Mediated Autophagy	IEA
R-HSA-9615710	Late endosomal microautophagy	IEA
R-HSA-9646399	Aggrephagy	TAS
R-HSA-9646399	Aggrephagy	IEA
R-HSA-9663891	Selective autophagy	TAS
R-HSA-9663891	Selective autophagy	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
C028451	3,4,3',4'-tetrachlorobiphenyl	3,4,3',4'-tetrachlorobiphenyl affects the expression of IFT88 mRNA	20638727
D000082	Acetaminophen	Acetaminophen results in decreased expression of IFT88 mRNA	21420995
D000082	Acetaminophen	Acetaminophen results in increased expression of IFT88 mRNA	17585979
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of IFT88 mRNA	21298039
D000661	Amphetamine	Amphetamine results in decreased expression of IFT88 mRNA	30779732
D001151	Arsenic	Arsenic affects the methylation of IFT88 gene	25304211
D017638	Asbestos, Crocidolite	Asbestos, Crocidolite results in decreased expression of IFT88 mRNA	25351596
D001280	Atrazine	Atrazine results in decreased expression of IFT88 mRNA	22378314
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of IFT88 mRNA	20106945
C006780	bisphenol A	bisphenol A affects the expression of IFT88 mRNA	21786754
C006780	bisphenol A	[bisphenol A co-treated with Genistein] results in decreased methylation of IFT88 gene	28505145
C006780	bisphenol A	bisphenol A results in decreased expression of IFT88 mRNA	25181051; 30816183;
D002118	Calcium	Gadolinium inhibits the reaction [IFT88 protein mutant form results in increased uptake of Calcium]	16396941
D002118	Calcium	IFT88 protein affects the reaction [PKD2 protein results in increased uptake of Calcium]	16396941
D002118	Calcium	IFT88 protein mutant form results in increased uptake of Calcium	16396941
D002994	Clofibrate	Clofibrate results in decreased expression of IFT88 mRNA	17585979
D019327	Copper Sulfate	Copper Sulfate results in decreased expression of IFT88 mRNA	19549813
D016572	Cyclosporine	Cyclosporine results in increased expression of IFT88 mRNA	27989131
C000944	dicrotophos	dicrotophos results in decreased expression of IFT88 mRNA	28302478
C036042	dicyclohexyl phthalate	dicyclohexyl phthalate affects the expression of IFT88 mRNA	26924002
D004052	Diethylnitrosamine	IFT88 gene mutant form results in increased susceptibility to Diethylnitrosamine	9362446
C024629	dimethyl phthalate	dimethyl phthalate affects the expression of IFT88 mRNA	26924002
C045651	epigallocatechin gallate	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of IFT88 mRNA	22079256
D004958	Estradiol	Estradiol results in decreased expression of IFT88 mRNA	23019147
D004997	Ethinyl Estradiol	Ethinyl Estradiol affects the expression of IFT88 mRNA	17555576
D005038	Ethylnitrosourea	Ethylnitrosourea results in increased mutagenesis of IFT88 gene	15755804; 16724327;
D017313	Fenretinide	Fenretinide results in increased expression of IFT88 mRNA	28973697
C039281	furan	furan results in increased methylation of IFT88 gene	22079235
D005682	Gadolinium	Gadolinium inhibits the reaction [IFT88 protein mutant form results in increased uptake of Calcium]	16396941
D019833	Genistein	[bisphenol A co-treated with Genistein] results in decreased methylation of IFT88 gene	28505145
C000593030	GSK-J4	GSK-J4 results in decreased expression of IFT88 mRNA	29301935
D006861	Hydrogen Peroxide	[Hydrogen Peroxide co-treated with Theophylline] results in decreased expression of IFT88 protein	18951874
C410337	K 7174	K 7174 results in increased expression of IFT88 mRNA	24086573
D008694	Methamphetamine	Methamphetamine results in increased expression of IFT88 mRNA	29802913
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of IFT88 mRNA	23458150
C004925	methylmercuric chloride	methylmercuric chloride results in decreased expression of IFT88 mRNA	28001369
D008767	Methylmercury Compounds	Methylmercury Compounds results in increased expression of IFT88 mRNA	27544571
D008741	Methyl Methanesulfonate	Methyl Methanesulfonate results in increased expression of IFT88 mRNA	23649840
C517284	monomethyl phthalate	monomethyl phthalate affects the expression of IFT88 mRNA	26924002
C568376	MT19c compound	MT19c compound results in increased expression of IFT88 mRNA	21781307
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in decreased expression of IFT88 mRNA	25554681
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in decreased expression of IFT88 mRNA	25554681
C029938	nickel sulfate	nickel sulfate results in decreased expression of IFT88 mRNA	22714537
D010795	Phthalic Acids	Phthalic Acids results in decreased expression of IFT88 mRNA	21061450
D010936	Plant Extracts	Plant Extracts results in increased expression of IFT88 mRNA	23557933
C027373	potassium chromate(VI)	[potassium chromate(VI) co-treated with epigallocatechin gallate] results in decreased expression of IFT88 mRNA	22079256
C027373	potassium chromate(VI)	potassium chromate(VI) results in decreased expression of IFT88 mRNA	22079256
C045362	prochloraz	prochloraz results in increased expression of IFT88 mRNA	21470553
C017947	sodium arsenite	sodium arsenite results in increased expression of IFT88 mRNA	29361514
D000077210	Sunitinib	Sunitinib results in decreased expression of IFT88 mRNA	31533062
D013629	Tamoxifen	Tamoxifen affects the expression of IFT88 mRNA	17555576
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of IFT88 mRNA	21570461
D013806	Theophylline	[Hydrogen Peroxide co-treated with Theophylline] results in decreased expression of IFT88 protein	18951874
D014212	Tretinoin	Tretinoin results in increased expression of IFT88 mRNA	23724009
D014520	Urethane	Urethane results in decreased expression of IFT88 mRNA	28818685
D014635	Valproic Acid	Valproic Acid affects the expression of IFT88 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in increased expression of IFT88 mRNA	23179753; 29154799;

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0025	Alternative splicing
KW-0966	Cell projection
KW-0969	Cilium
KW-0970	Cilium biogenesis/degradation
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0282	Flagellum
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0677	Repeat
KW-0802	TPR repeat

Interpro

InterPro ID	InterPro Term
IPR006597	Sel1-like
IPR013026	TPR-contain_dom
IPR011990	TPR-like_helical_dom_sf
IPR019734	TPR_repeat

PROSITE

PROSITE ID	PROSITE Term
PS50005	TPR
PS50293	TPR_REGION

Pfam

Pfam ID	Pfam Term
PF13174	TPR_6
PF13181	TPR_8

Gene: IFT88

Basic information

Gene expression information

Gene expression in different tissues (GTEx V7)

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

There is no related protein structure for this gene.

Protein disorder information

Orthologous information

Other genetic variants/mutations

Disease or phenotype associated information

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO:Biological Process

GO:Cellular Component

Reactome Pathway

Drugs and compounds information

Functional annotations

Keywords

Interpro

PROSITE

Pfam

Protein-protein interaction

Protein-miRNA interaction