CleftGeneDB-Search

Gene: KIF7

Basic information

Tag	Content
Uniprot ID	Q2M1P5; Q3SXY0; Q6UXE9; Q8IW72;
Entrez ID	374654
Genbank protein ID	AAI12272.1; AAH40878.1; AAI04045.1; AAQ88750.1; AAI12274.1;
Genbank nucleotide ID	NM_198525.2
Ensembl protein ID	ENSP00000377934
Ensembl nucleotide ID	ENSG00000166813
Gene name	Kinesin-like protein KIF7
Gene symbol	KIF7
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type
Developmental stage
Data sources	Manually collected
Reference	26602496
Functional description	Essential for hedgehog signaling regulation: acts as both a negative and positive regulator of sonic hedgehog (Shh) and Indian hedgehog (Ihh) pathways, acting downstream of SMO, through both SUFU-dependent and -independent mechanisms (PubMed:21633164). Involved in the regulation of microtubular dynamics. Required for proper organization of the ciliary tip and control of ciliary localization of SUFU-GLI2 complexes (By similarity). Required for localization of GLI3 to cilia in response to Shh. Negatively regulates Shh signaling by preventing inappropriate activation of the transcriptional activator GLI2 in the absence of ligand. Positively regulates Shh signaling by preventing the processing of the transcription factor GLI3 into its repressor form. In keratinocytes, promotes the dissociation of SUFU-GLI2 complexes, GLI2 nuclear translocation and Shh signaling activation (By similarity). Involved in the regulation of epidermal differentiation and chondrocyte development (By similarity).
Sequence	MGLEAQRLPG AEEAPVRVAL RVRPLLPKEL LHGHQSCLQV EPGLGRVTLG RDRHFGFHVV 60 LAEDAGQEAV YQACVQPLLE AFFEGFNATV FAYGQTGSGK TYTMGEASVA SLLEDEQGIV 120 PRAMAEAFKL IDENDLLDCL VHVSYLEVYK EEFRDLLEVG TASRDIQLRE DERGNVVLCG 180 VKEVDVEGLD EVLSLLEMGN AARHTGATHL NHLSSRSHTV FTVTLEQRGR APSRLPRPAP 240 GQLLVSKFHF VDLAGSERVL KTGSTGERLK ESIQINSSLL ALGNVISALG DPQRRGSHIP 300 YRDSKITRIL KDSLGGNAKT VMIACVSPSS SDFDETLNTL NYASRAQNIR NRATVNWRPE 360 AERPPEETAS GARGPPRHRS ETRIIHRGRR APGPATASAA AAMRLGAECA RYRACTDAAY 420 SLLRELQAEP GLPGAAARKV RDWLCAVEGE RSALSSASGP DSGIESASVE DQAAQGAGGR 480 KEDEGAQQLL TLQNQVARLE EENRDFLAAL EDAMEQYKLQ SDRLREQQEE MVELRLRLEL 540 VRPGWGGPRL LNGLPPGSFV PRPHTAPLGG AHAHVLGMVP PACLPGDEVG SEQRGEQVTN 600 GREAGAELLT EVNRLGSGSS AASEEEEEEE EPPRRTLHLR RNRISNCSQR AGARPGSLPE 660 RKGPELCLEE LDAAIPGSRA VGGSKARVQA RQVPPATASE WRLAQAQQKI RELAINIRMK 720 EELIGELVRT GKAAQALNRQ HSQRIRELEQ EAEQVRAELS EGQRQLRELE GKELQDAGER 780 SRLQEFRRRV AAAQSQVQVL KEKKQATERL VSLSAQSEKR LQELERNVQL MRQQQGQLQR 840 RLREETEQKR RLEAEMSKRQ HRVKELELKH EQQQKILKIK TEEIAAFQRK RRSGSNGSVV 900 SLEQQQKIEE QKKWLDQEME KVLQQRRALE ELGEELHKRE AILAKKEALM QEKTGLESKR 960 LRSSQALNED IVRVSSRLEH LEKELSEKSG QLRQGSAQSQ QQIRGEIDSL RQEKDSLLKQ 1020 RLEIDGKLRQ GSLLSPEEER TLFQLDEAIE ALDAAIEYKN EAITCRQRVL RASASLLSQC 1080 EMNLMAKLSY LSSSETRALL CKYFDKVVTL REEQHQQQIA FSELEMQLEE QQRLVYWLEV 1140 ALERQRLEMD RQLTLQQKEH EQNMQLLLQQ SRDHLGEGLA DSRRQYEARI QALEKELGRY 1200 MWINQELKQK LGGVNAVGHS RGGEKRSLCS EGRQAPGNED ELHLAPELLW LSPLTEGAPR 1260 TREETRDLVH APLPLTWKRS SLCGEEQGSP EELRQREAAE PLVGRVLPVG EAGLPWNFGP 1320 LSKPRRELRR ASPGMIDVRK NPL 1343

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

PDB ID
2XT3
4A14
6MLQ
6MLR

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	KIF7	102185507	A0A452DV85		Capra hircus	Prediction	More>>
1:1 ortholog	KIF7	374654	Q2M1P5		Homo sapiens	Publication	More>>
1:1 ortholog	Kif7		B7ZNG0	CPO	Mus musculus	Publication	More>>
1:1 ortholog	KIF7		A0A2I3T455		Pan troglodytes	Prediction	More>>
1:1 ortholog	KIF7		F1SK19		Sus scrofa	Prediction	More>>
1:1 ortholog	Kif7	293047	D4A9P0		Rattus norvegicus	Prediction	More>>
1:1 ortholog	kif7	544651	F1QH25		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
KIF7	rs4932238*C	Genotyping	26602496

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs938045073	p.Gly2Arg	missense variant	-	NC_000015.10:g.89652927C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ala5Asp	missense variant	-	NC_000015.10:g.89652917G>T	NCI-TCGA
rs1270213542	p.Gln6His	missense variant	-	NC_000015.10:g.89652913C>G	TOPMed
rs1325798081	p.Gln6Ter	stop gained	-	NC_000015.10:g.89652915G>A	gnomAD
rs758144105	p.Pro9Leu	missense variant	-	NC_000015.10:g.89652905G>A	ExAC,gnomAD
rs1203959700	p.Gly10Trp	missense variant	-	NC_000015.10:g.89652903C>A	TOPMed
rs543942301	p.Gly10Glu	missense variant	-	NC_000015.10:g.89652902C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs543942301	p.Gly10Val	missense variant	-	NC_000015.10:g.89652902C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1271849962	p.Glu12Gly	missense variant	-	NC_000015.10:g.89652896T>C	TOPMed,gnomAD
rs765192038	p.Glu13Lys	missense variant	-	NC_000015.10:g.89652894C>T	ExAC,TOPMed,gnomAD
rs1337006433	p.Ala14Thr	missense variant	-	NC_000015.10:g.89652891C>T	gnomAD
rs1454209591	p.Pro15Ser	missense variant	-	NC_000015.10:g.89652888G>A	gnomAD
rs1403402865	p.Val16Gly	missense variant	-	NC_000015.10:g.89652884A>C	gnomAD
rs141865394	p.Arg17Trp	missense variant	-	NC_000015.10:g.89652882G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000117425	p.Arg17Trp	missense variant	-	NC_000015.10:g.89652882G>A	ClinVar
rs949983017	p.Arg17Gln	missense variant	-	NC_000015.10:g.89652881C>T	TOPMed,gnomAD
rs1420854824	p.Val18Ile	missense variant	-	NC_000015.10:g.89652879C>T	TOPMed,gnomAD
rs1247032577	p.Ala19Val	missense variant	-	NC_000015.10:g.89652875G>A	gnomAD
RCV000355275	p.Arg21Ter	nonsense	-	NC_000015.10:g.89652870G>A	ClinVar
rs935846747	p.Arg21Gln	missense variant	-	NC_000015.10:g.89652869C>T	TOPMed,gnomAD
rs794727316	p.Arg21Ter	stop gained	-	NC_000015.10:g.89652870G>A	TOPMed,gnomAD
rs794727316	p.Arg21Gly	missense variant	-	NC_000015.10:g.89652870G>C	TOPMed,gnomAD
rs1462866186	p.Val22Leu	missense variant	-	NC_000015.10:g.89652867C>G	gnomAD
RCV000714582	p.Arg23Ter	nonsense	Macrocephaly with multiple epiphyseal dysplasia and distinctive facies (MMEDF)	NC_000015.10:g.89652864G>A	ClinVar
RCV000714581	p.Arg23Ter	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89652864G>A	ClinVar
rs1235928535	p.Arg23Ter	stop gained	-	NC_000015.10:g.89652864G>A	TOPMed,gnomAD
rs1209584417	p.Arg23Gln	missense variant	-	NC_000015.10:g.89652863C>T	gnomAD
rs1275039697	p.Leu25Val	missense variant	-	NC_000015.10:g.89652858G>C	gnomAD
rs1198797617	p.Leu26Arg	missense variant	-	NC_000015.10:g.89652854A>C	gnomAD
rs1429190056	p.Pro27Ser	missense variant	-	NC_000015.10:g.89652852G>A	TOPMed
rs767557131	p.Glu29Asp	missense variant	-	NC_000015.10:g.89652844C>G	ExAC,gnomAD
rs368482949	p.His32Gln	missense variant	-	NC_000015.10:g.89652835G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1018636281	p.Gly33Arg	missense variant	-	NC_000015.10:g.89652834C>T	TOPMed,gnomAD
rs1018636281	p.Gly33Arg	missense variant	-	NC_000015.10:g.89652834C>G	TOPMed,gnomAD
rs1280702414	p.Ser36Arg	missense variant	-	NC_000015.10:g.89652823G>C	TOPMed,gnomAD
rs1442319245	p.Cys37Phe	missense variant	-	NC_000015.10:g.89652821C>A	gnomAD
rs1355724901	p.Cys37Ter	stop gained	-	NC_000015.10:g.89652820G>T	gnomAD
rs1222167310	p.Gln39Arg	missense variant	-	NC_000015.10:g.89652815T>C	gnomAD
rs1367383569	p.Val40Met	missense variant	-	NC_000015.10:g.89652813C>T	NCI-TCGA
rs1367383569	p.Val40Met	missense variant	-	NC_000015.10:g.89652813C>T	TOPMed,gnomAD
rs769021701	p.Pro42Ala	missense variant	-	NC_000015.10:g.89652807G>C	ExAC,TOPMed,gnomAD
rs769021701	p.Pro42Thr	missense variant	-	NC_000015.10:g.89652807G>T	ExAC,TOPMed,gnomAD
rs959891471	p.Arg46His	missense variant	-	NC_000015.10:g.89652794C>T	TOPMed,gnomAD
rs959891471	p.Arg46Pro	missense variant	-	NC_000015.10:g.89652794C>G	TOPMed,gnomAD
rs567170163	p.Arg46Cys	missense variant	-	NC_000015.10:g.89652795G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM5142324	p.Arg46Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89652795G>T	NCI-TCGA Cosmic
rs770323687	p.Val47Ile	missense variant	-	NC_000015.10:g.89652792C>T	ExAC,TOPMed,gnomAD
rs1035083771	p.Thr48Ile	missense variant	-	NC_000015.10:g.89652788G>A	TOPMed
rs555261308	p.Arg51His	missense variant	-	NC_000015.10:g.89652779C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs746429585	p.Arg51Cys	missense variant	-	NC_000015.10:g.89652780G>A	ExAC,TOPMed,gnomAD
RCV000117413	p.Asp52Asn	missense variant	-	NC_000015.10:g.89652777C>T	ClinVar
RCV000278498	p.Asp52Asn	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89652777C>T	ClinVar
rs8179065	p.Asp52Asn	missense variant	-	NC_000015.10:g.89652777C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs8179065	p.Asp52Tyr	missense variant	-	NC_000015.10:g.89652777C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1203068941	p.Asp52Glu	missense variant	-	NC_000015.10:g.89652775G>T	TOPMed,gnomAD
RCV000722879	p.Asp52Lys	missense variant	-	NC_000015.10:g.89652775_89652777delinsTTT	ClinVar
rs746547718	p.Arg53Gln	missense variant	-	NC_000015.10:g.89652773C>T	ExAC,TOPMed,gnomAD
rs746547718	p.Arg53Leu	missense variant	-	NC_000015.10:g.89652773C>A	ExAC,TOPMed,gnomAD
rs569323391	p.Arg53Gly	missense variant	-	NC_000015.10:g.89652774G>C	1000Genomes,gnomAD
rs569323391	p.Arg53Ter	stop gained	-	NC_000015.10:g.89652774G>A	1000Genomes,gnomAD
RCV000537774	p.Arg53Ter	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89652774G>A	ClinVar
RCV000176010	p.His54Tyr	missense variant	-	NC_000015.10:g.89652771G>A	ClinVar
rs794727315	p.His54Tyr	missense variant	-	NC_000015.10:g.89652771G>A	TOPMed,gnomAD
rs1319640068	p.Phe57Tyr	missense variant	-	NC_000015.10:g.89652761A>T	gnomAD
rs760396015	p.His58Gln	missense variant	-	NC_000015.10:g.89652757G>C	ExAC,TOPMed,gnomAD
rs1311602417	p.His58Tyr	missense variant	-	NC_000015.10:g.89652759G>A	gnomAD
rs369404071	p.Val59Met	missense variant	-	NC_000015.10:g.89652756C>T	ExAC,TOPMed,gnomAD
rs369404071	p.Val59Leu	missense variant	-	NC_000015.10:g.89652756C>A	ExAC,TOPMed,gnomAD
rs369404071	p.Val59Leu	missense variant	-	NC_000015.10:g.89652756C>G	ExAC,TOPMed,gnomAD
rs1285971751	p.Leu61Val	missense variant	-	NC_000015.10:g.89652750G>C	gnomAD
rs1370557352	p.Ala62Thr	missense variant	-	NC_000015.10:g.89652747C>T	gnomAD
rs1459778502	p.Glu63Lys	missense variant	-	NC_000015.10:g.89652744C>T	TOPMed,gnomAD
rs1348446857	p.Glu63Gly	missense variant	-	NC_000015.10:g.89652743T>C	gnomAD
rs1026564700	p.Asp64Gly	missense variant	-	NC_000015.10:g.89652740T>C	TOPMed
rs775159552	p.Ala65Val	missense variant	-	NC_000015.10:g.89652737G>A	gnomAD
rs775159552	p.Ala65Gly	missense variant	-	NC_000015.10:g.89652737G>C	gnomAD
rs532675934	p.Gly66Arg	missense variant	-	NC_000015.10:g.89652735C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs532675934	p.Gly66Arg	missense variant	-	NC_000015.10:g.89652735C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1363434080	p.Gly66Val	missense variant	-	NC_000015.10:g.89652734C>A	TOPMed
rs766352879	p.Gln67Ter	stop gained	-	NC_000015.10:g.89652732G>A	ExAC
rs1180177940	p.Glu68Gly	missense variant	-	NC_000015.10:g.89652728T>C	gnomAD
rs761934745	p.Val70Met	missense variant	-	NC_000015.10:g.89652723C>T	ExAC,TOPMed,gnomAD
RCV000336973	p.Val70Met	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89652723C>T	ClinVar
rs1487401425	p.Gln72Arg	missense variant	-	NC_000015.10:g.89652716T>C	gnomAD
rs1201439891	p.Gln72Glu	missense variant	-	NC_000015.10:g.89652717G>C	gnomAD
RCV000414144	p.Ala73Ter	frameshift	-	NC_000015.10:g.89652715del	ClinVar
RCV000023886	p.Ala73Ter	frameshift	Joubert syndrome 12 (JBTS12)	NC_000015.10:g.89652715del	ClinVar
rs552362795	p.Ala73Asp	missense variant	-	NC_000015.10:g.89652713G>T	1000Genomes,gnomAD
rs552362795	p.Ala73Val	missense variant	-	NC_000015.10:g.89652713G>A	1000Genomes,gnomAD
rs552362795	p.Ala73Val	missense variant	-	NC_000015.10:g.89652713G>A	NCI-TCGA Cosmic
rs1301806942	p.Cys74Tyr	missense variant	-	NC_000015.10:g.89652710C>T	TOPMed
rs1227247256	p.Val75Ile	missense variant	-	NC_000015.10:g.89652708C>T	NCI-TCGA
rs1227247256	p.Val75Ile	missense variant	-	NC_000015.10:g.89652708C>T	TOPMed,gnomAD
COSM1375357	p.Val75Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89652707A>T	NCI-TCGA Cosmic
rs1345528858	p.Gln76Glu	missense variant	-	NC_000015.10:g.89652705G>C	gnomAD
RCV000523915	p.Leu79Phe	missense variant	-	NC_000015.10:g.89652696G>A	ClinVar
rs1388988537	p.Leu79Phe	missense variant	-	NC_000015.10:g.89652696G>A	gnomAD
rs1236627651	p.Leu79Pro	missense variant	-	NC_000015.10:g.89652695A>G	TOPMed
COSM966376	p.Glu80Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89652691C>A	NCI-TCGA Cosmic
rs770614646	p.Phe83Val	missense variant	-	NC_000015.10:g.89652684A>C	ExAC,TOPMed,gnomAD
rs770614646	p.Phe83Leu	missense variant	-	NC_000015.10:g.89652684A>G	ExAC,TOPMed,gnomAD
rs1289476412	p.Phe83Cys	missense variant	-	NC_000015.10:g.89652683A>C	TOPMed
rs1391195209	p.Glu84Asp	missense variant	-	NC_000015.10:g.89652679C>G	TOPMed,gnomAD
rs775919883	p.Glu84Lys	missense variant	-	NC_000015.10:g.89652681C>T	ExAC,TOPMed,gnomAD
rs1157143166	p.Gly85Asp	missense variant	-	NC_000015.10:g.89652677C>T	gnomAD
rs147947221	p.Asn87Asp	missense variant	-	NC_000015.10:g.89652672T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs147947221	p.Asn87His	missense variant	-	NC_000015.10:g.89652672T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs891743732	p.Val90Ile	missense variant	-	NC_000015.10:g.89652663C>T	TOPMed
rs1178290037	p.Tyr93Phe	missense variant	-	NC_000015.10:g.89652653T>A	gnomAD
rs1266575095	p.Gly94Val	missense variant	-	NC_000015.10:g.89652650C>A	gnomAD
rs771463286	p.Gln95Lys	missense variant	-	NC_000015.10:g.89652648G>T	ExAC,gnomAD
rs1245826414	p.Thr96Met	missense variant	-	NC_000015.10:g.89652644G>A	TOPMed,gnomAD
rs1245826414	p.Thr96Met	missense variant	-	NC_000015.10:g.89652644G>A	NCI-TCGA
rs1465593089	p.Gly99Glu	missense variant	-	NC_000015.10:g.89652635C>T	TOPMed,gnomAD
rs1230407147	p.Met104Arg	missense variant	-	NC_000015.10:g.89652620A>C	TOPMed,gnomAD
rs1264501750	p.Met104Leu	missense variant	-	NC_000015.10:g.89652621T>A	TOPMed,gnomAD
rs1230407147	p.Met104Thr	missense variant	-	NC_000015.10:g.89652620A>G	TOPMed,gnomAD
rs1311016113	p.Gly105Glu	missense variant	-	NC_000015.10:g.89652617C>T	TOPMed,gnomAD
rs1311016113	p.Gly105Ala	missense variant	-	NC_000015.10:g.89652617C>G	TOPMed,gnomAD
rs747819025	p.Glu106Val	missense variant	-	NC_000015.10:g.89652614T>A	ExAC,gnomAD
rs778629024	p.Ala107Thr	missense variant	-	NC_000015.10:g.89652612C>T	ExAC,TOPMed,gnomAD
rs1318822623	p.Ser108Thr	missense variant	-	NC_000015.10:g.89652608C>G	TOPMed,gnomAD
rs754667399	p.Ser108Cys	missense variant	-	NC_000015.10:g.89652609T>A	ExAC,TOPMed,gnomAD
rs529927988	p.Val109Ala	missense variant	-	NC_000015.10:g.89652605A>G	1000Genomes,ExAC,gnomAD
rs1250271017	p.Ala110Val	missense variant	-	NC_000015.10:g.89649941G>A	gnomAD
rs1182032856	p.Ser111Phe	missense variant	-	NC_000015.10:g.89649938G>A	gnomAD
rs894497447	p.Ser111Thr	missense variant	-	NC_000015.10:g.89649939A>T	TOPMed
rs1355982031	p.Glu114Gln	missense variant	-	NC_000015.10:g.89649930C>G	TOPMed,gnomAD
rs761226001	p.Ile119Val	missense variant	-	NC_000015.10:g.89649915T>C	ExAC,TOPMed,gnomAD
RCV000442397	p.Ile119Val	missense variant	-	NC_000015.10:g.89649915T>C	ClinVar
rs1277744807	p.Pro121Leu	missense variant	-	NC_000015.10:g.89649908G>A	TOPMed
rs771500087	p.Ala125Val	missense variant	-	NC_000015.10:g.89649896G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ala125Thr	missense variant	-	NC_000015.10:g.89649897C>T	NCI-TCGA
rs886051544	p.Glu126Lys	missense variant	-	NC_000015.10:g.89649894C>T	TOPMed,gnomAD
RCV000321796	p.Glu126Lys	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649894C>T	ClinVar
rs778381085	p.Lys129Arg	missense variant	-	NC_000015.10:g.89649884T>C	ExAC,gnomAD
rs1383044852	p.Leu130Val	missense variant	-	NC_000015.10:g.89649882G>C	TOPMed,gnomAD
rs537169269	p.Ile131Met	missense variant	-	NC_000015.10:g.89649877G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1410526224	p.Asp132Asn	missense variant	-	NC_000015.10:g.89649876C>T	TOPMed,gnomAD
rs922869195	p.Asn134Ser	missense variant	-	NC_000015.10:g.89649869T>C	TOPMed
rs886051543	p.Asp135Glu	missense variant	-	NC_000015.10:g.89649865G>T	-
RCV000267079	p.Asp135Glu	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649865G>T	ClinVar
rs1360574783	p.Leu137Phe	missense variant	-	NC_000015.10:g.89649861G>A	TOPMed
rs1478669456	p.Cys139Ser	missense variant	-	NC_000015.10:g.89649854C>G	gnomAD
rs756117745	p.Leu140Met	missense variant	-	NC_000015.10:g.89649852G>T	ExAC,gnomAD
rs551697037	p.His142Arg	missense variant	-	NC_000015.10:g.89649845T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1423914482	p.Ser144Phe	missense variant	-	NC_000015.10:g.89649839G>A	TOPMed,gnomAD
RCV000415003	p.Tyr145Ser	missense variant	Cerebellar ataxia	NC_000015.10:g.89649836T>G	ClinVar
rs758361736	p.Tyr145Ser	missense variant	-	NC_000015.10:g.89649836T>G	ExAC,TOPMed,gnomAD
rs1267640231	p.Glu147Lys	missense variant	-	NC_000015.10:g.89649831C>T	gnomAD
rs1368643826	p.Val148Leu	missense variant	-	NC_000015.10:g.89649828C>G	TOPMed
rs1050207869	p.Lys150Gln	missense variant	-	NC_000015.10:g.89649822T>G	TOPMed,gnomAD
rs1184119876	p.Lys150Thr	missense variant	-	NC_000015.10:g.89649821T>G	gnomAD
RCV000547008	p.Arg154Gln	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649809C>T	ClinVar
rs180758272	p.Arg154Gln	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89649809C>T	UniProt,dbSNP
VAR_077692	p.Arg154Gln	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89649809C>T	UniProt
rs180758272	p.Arg154Gln	missense variant	-	NC_000015.10:g.89649809C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs387907044	p.Arg154Ter	stop gained	-	NC_000015.10:g.89649810G>A	TOPMed,gnomAD
RCV000023882	p.Arg154Ter	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649810G>A	ClinVar
rs387907044	p.Arg154Gly	missense variant	-	NC_000015.10:g.89649810G>C	TOPMed,gnomAD
RCV000733768	p.Arg154Gln	missense variant	-	NC_000015.10:g.89649809C>T	ClinVar
rs1365593121	p.Leu156Val	missense variant	-	NC_000015.10:g.89649804G>C	gnomAD
rs1322167851	p.Glu158Lys	missense variant	-	NC_000015.10:g.89649798C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Glu158Val	missense variant	-	NC_000015.10:g.89649797T>A	NCI-TCGA
rs1432505645	p.Gly160Asp	missense variant	-	NC_000015.10:g.89649791C>T	gnomAD
rs1221234527	p.Thr161Ala	missense variant	-	NC_000015.10:g.89649789T>C	TOPMed
rs1057435113	p.Thr161Ile	missense variant	-	NC_000015.10:g.89649788G>A	TOPMed
COSM966374	p.Ala162Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89649786C>T	NCI-TCGA Cosmic
RCV000595070	p.Arg164Gly	missense variant	-	NC_000015.10:g.89649780G>C	ClinVar
rs1336887612	p.Arg164His	missense variant	-	NC_000015.10:g.89649779C>T	TOPMed,gnomAD
rs755280435	p.Arg164Gly	missense variant	-	NC_000015.10:g.89649780G>C	ExAC,gnomAD
rs755280435	p.Arg164Cys	missense variant	-	NC_000015.10:g.89649780G>A	ExAC,gnomAD
rs766793289	p.Arg169Gln	missense variant	-	NC_000015.10:g.89649764C>T	ExAC,TOPMed,gnomAD
rs754191899	p.Arg169Trp	missense variant	-	NC_000015.10:g.89649765G>A	ExAC,gnomAD
rs1003474136	p.Asp171Gly	missense variant	-	NC_000015.10:g.89649758T>C	TOPMed
rs768030553	p.Arg173His	missense variant	-	NC_000015.10:g.89649752C>T	ExAC,TOPMed,gnomAD
rs559797970	p.Arg173Cys	missense variant	-	NC_000015.10:g.89649753G>A	1000Genomes,TOPMed,gnomAD
rs559797970	p.Arg173Ser	missense variant	-	NC_000015.10:g.89649753G>T	1000Genomes,TOPMed,gnomAD
rs188342701	p.Gly174Arg	missense variant	-	NC_000015.10:g.89649750C>T	1000Genomes,TOPMed,gnomAD
rs1484780856	p.Gly180Trp	missense variant	-	NC_000015.10:g.89649359C>A	TOPMed
rs1409898901	p.Val181Met	missense variant	-	NC_000015.10:g.89649356C>T	TOPMed,gnomAD
rs1409898901	p.Val181Leu	missense variant	-	NC_000015.10:g.89649356C>A	TOPMed,gnomAD
rs1310326259	p.Asp185Asn	missense variant	-	NC_000015.10:g.89649344C>T	gnomAD
rs1354267066	p.Val186Met	missense variant	-	NC_000015.10:g.89649341C>T	gnomAD
rs1407346812	p.Gly188Ser	missense variant	-	NC_000015.10:g.89649335C>T	gnomAD
rs1191652907	p.Leu189Met	missense variant	-	NC_000015.10:g.89649332G>T	TOPMed
RCV000023884	p.Glu197Ter	frameshift	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649310dup	ClinVar
rs1181427119	p.Glu197Gly	missense variant	-	NC_000015.10:g.89649307T>C	gnomAD
rs977482531	p.Asn200Ser	missense variant	-	NC_000015.10:g.89649298T>C	TOPMed,gnomAD
rs967769378	p.Ala201Thr	missense variant	-	NC_000015.10:g.89649296C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala201Val	missense variant	-	NC_000015.10:g.89649295G>A	NCI-TCGA
rs1253908330	p.Ala202Glu	missense variant	-	NC_000015.10:g.89649292G>T	TOPMed,gnomAD
rs1253908330	p.Ala202Val	missense variant	-	NC_000015.10:g.89649292G>A	TOPMed,gnomAD
rs1179864977	p.Arg203Gln	missense variant	-	NC_000015.10:g.89649289C>T	TOPMed,gnomAD
rs745680789	p.Thr205Met	missense variant	-	NC_000015.10:g.89649283G>A	ExAC,gnomAD
rs1223479072	p.Gly206Glu	missense variant	-	NC_000015.10:g.89649280C>T	gnomAD
RCV000325727	p.Ala207Thr	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649278C>T	ClinVar
rs886051542	p.Ala207Thr	missense variant	-	NC_000015.10:g.89649278C>T	gnomAD
RCV000270710	p.Thr208Met	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649274G>A	ClinVar
rs886051541	p.Thr208Lys	missense variant	-	NC_000015.10:g.89649274G>T	gnomAD
rs886051541	p.Thr208Met	missense variant	-	NC_000015.10:g.89649274G>A	gnomAD
rs1228483857	p.His209Asn	missense variant	-	NC_000015.10:g.89649272G>T	gnomAD
rs1394181326	p.Leu210Pro	missense variant	-	NC_000015.10:g.89649268A>G	TOPMed
rs1333950635	p.Ser214Pro	missense variant	-	NC_000015.10:g.89649257A>G	TOPMed
rs757264040	p.Ser214Tyr	missense variant	-	NC_000015.10:g.89649256G>T	ExAC,gnomAD
RCV000365273	p.Ser215Gly	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649254T>C	ClinVar
rs189804625	p.Ser215Arg	missense variant	-	NC_000015.10:g.89649252G>T	1000Genomes,ExAC
rs886051540	p.Ser215Gly	missense variant	-	NC_000015.10:g.89649254T>C	TOPMed,gnomAD
rs1020469860	p.Arg216Leu	missense variant	-	NC_000015.10:g.89649250C>A	TOPMed,gnomAD
rs1373212168	p.Arg216Cys	missense variant	-	NC_000015.10:g.89649251G>A	gnomAD
rs1305884128	p.His218Arg	missense variant	-	NC_000015.10:g.89649244T>C	TOPMed
rs1439052275	p.Thr219Ser	missense variant	-	NC_000015.10:g.89649242T>A	TOPMed,gnomAD
rs1439052275	p.Thr219Ala	missense variant	-	NC_000015.10:g.89649242T>C	TOPMed,gnomAD
rs1164414335	p.Thr222Asn	missense variant	-	NC_000015.10:g.89649232G>T	gnomAD
rs1414227324	p.Thr224Ile	missense variant	-	NC_000015.10:g.89649226G>A	gnomAD
rs1156995768	p.Leu225Val	missense variant	-	NC_000015.10:g.89649224G>C	TOPMed,gnomAD
rs955010124	p.Glu226Lys	missense variant	-	NC_000015.10:g.89649221C>T	gnomAD
rs1425831510	p.Arg228Gln	missense variant	-	NC_000015.10:g.89649214C>T	TOPMed
rs1028164219	p.Arg228Trp	missense variant	-	NC_000015.10:g.89649215G>A	TOPMed,gnomAD
rs1425831510	p.Arg228Pro	missense variant	-	NC_000015.10:g.89649214C>G	TOPMed
rs1245789833	p.Gly229Arg	missense variant	-	NC_000015.10:g.89649212C>G	gnomAD
RCV000023885	p.Arg230Ter	frameshift	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649214del	ClinVar
rs1465947060	p.Arg230Ser	missense variant	-	NC_000015.10:g.89649209G>T	gnomAD
rs997082435	p.Arg230His	missense variant	-	NC_000015.10:g.89649208C>T	TOPMed,gnomAD
rs1465947060	p.Arg230Cys	missense variant	-	NC_000015.10:g.89649209G>A	gnomAD
rs1460145124	p.Pro232Leu	missense variant	-	NC_000015.10:g.89649202G>A	TOPMed
rs1227236239	p.Ser233Asn	missense variant	-	NC_000015.10:g.89649199C>T	gnomAD
rs898910099	p.Arg234His	missense variant	-	NC_000015.10:g.89649196C>T	TOPMed,gnomAD
rs1302507562	p.Arg234Cys	missense variant	-	NC_000015.10:g.89649197G>A	gnomAD
rs1325517056	p.Leu235Pro	missense variant	-	NC_000015.10:g.89649193A>G	gnomAD
rs1391078591	p.Pro236Ser	missense variant	-	NC_000015.10:g.89649191G>A	gnomAD
rs529571444	p.Arg237Leu	missense variant	-	NC_000015.10:g.89649187C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs529571444	p.Arg237His	missense variant	-	NC_000015.10:g.89649187C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1178081116	p.Pro238His	missense variant	-	NC_000015.10:g.89649184G>T	gnomAD
rs1378146452	p.Pro238Ser	missense variant	-	NC_000015.10:g.89649185G>A	gnomAD
rs1394292136	p.Ala239Thr	missense variant	-	NC_000015.10:g.89649182C>T	TOPMed,gnomAD
rs1188936390	p.Ala239Asp	missense variant	-	NC_000015.10:g.89649181G>T	TOPMed,gnomAD
rs1394292136	p.Ala239Ser	missense variant	-	NC_000015.10:g.89649182C>A	TOPMed,gnomAD
RCV000310560	p.Pro240Leu	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89649178G>A	ClinVar
rs886051539	p.Pro240Leu	missense variant	-	NC_000015.10:g.89649178G>A	TOPMed,gnomAD
RCV000481380	p.Gly241Cys	missense variant	-	NC_000015.10:g.89649176C>A	ClinVar
rs1004531343	p.Gly241Cys	missense variant	-	NC_000015.10:g.89649176C>A	-
rs1207566281	p.Gly241Asp	missense variant	-	NC_000015.10:g.89649175C>T	gnomAD
rs1483258643	p.Gln242Arg	missense variant	-	NC_000015.10:g.89649172T>C	gnomAD
rs1212811357	p.Val245Ile	missense variant	-	NC_000015.10:g.89649164C>T	gnomAD
rs1212811357	p.Val245Leu	missense variant	-	NC_000015.10:g.89649164C>G	gnomAD
rs1310928668	p.Ser246Tyr	missense variant	-	NC_000015.10:g.89649160G>T	gnomAD
RCV000592932	p.Lys247Asn	missense variant	-	NC_000015.10:g.89649156C>A	ClinVar
rs1249751684	p.Lys247Asn	missense variant	-	NC_000015.10:g.89649156C>A	TOPMed
rs1046713732	p.His249Gln	missense variant	-	NC_000015.10:g.89649150G>C	TOPMed
rs1257010266	p.Val251Met	missense variant	-	NC_000015.10:g.89649146C>T	TOPMed
rs1367625488	p.Ala254Val	missense variant	-	NC_000015.10:g.89649136G>A	gnomAD
NCI-TCGA novel	p.Ser256Ter	stop gained	-	NC_000015.10:g.89649130G>C	NCI-TCGA
rs1381743319	p.Glu257Lys	missense variant	-	NC_000015.10:g.89649128C>T	gnomAD
rs762429906	p.Arg258Lys	missense variant	-	NC_000015.10:g.89649124C>T	ExAC,TOPMed,gnomAD
rs762429906	p.Arg258Met	missense variant	-	NC_000015.10:g.89649124C>A	ExAC,TOPMed,gnomAD
rs762429906	p.Arg258Thr	missense variant	-	NC_000015.10:g.89649124C>G	ExAC,TOPMed,gnomAD
rs1464522973	p.Val259Met	missense variant	-	NC_000015.10:g.89649122C>T	gnomAD
rs1420636784	p.Leu260Phe	missense variant	-	NC_000015.10:g.89649119G>A	TOPMed
RCV000414683	p.Thr262Met	missense variant	-	NC_000015.10:g.89649112G>A	ClinVar
rs1057518271	p.Thr262Met	missense variant	-	NC_000015.10:g.89649112G>A	TOPMed,gnomAD
rs1169060633	p.Gly263Cys	missense variant	-	NC_000015.10:g.89649110C>A	gnomAD
rs936542223	p.Ser264Asn	missense variant	-	NC_000015.10:g.89649106C>T	gnomAD
rs936542223	p.Ser264Ile	missense variant	-	NC_000015.10:g.89649106C>A	gnomAD
rs1191970042	p.Thr265Asn	missense variant	-	NC_000015.10:g.89649103G>T	gnomAD
rs939728328	p.Gly266Ser	missense variant	-	NC_000015.10:g.89649101C>T	TOPMed,gnomAD
rs886795645	p.Gly266Val	missense variant	-	NC_000015.10:g.89649100C>A	TOPMed
rs1485011167	p.Arg268Gln	missense variant	-	NC_000015.10:g.89649094C>T	gnomAD
rs1280161973	p.Lys270Glu	missense variant	-	NC_000015.10:g.89649089T>C	gnomAD
RCV000023887	p.Glu271Ter	frameshift	Joubert syndrome 12 (JBTS12)	NC_000015.10:g.89649087del	ClinVar
RCV000023888	p.Glu271Ter	frameshift	Joubert syndrome 12/15, digenic	NC_000015.10:g.89649087del	ClinVar
rs978833977	p.Glu271Asp	missense variant	-	NC_000015.10:g.89649084C>G	TOPMed
rs1344695594	p.Asn276Lys	missense variant	-	NC_000015.10:g.89649069G>T	gnomAD
rs1279913376	p.Asn276Asp	missense variant	-	NC_000015.10:g.89649071T>C	TOPMed
rs1272790387	p.Ser278Thr	missense variant	-	NC_000015.10:g.89649064C>G	gnomAD
rs762568380	p.Leu279Phe	missense variant	-	NC_000015.10:g.89649062G>A	ExAC,gnomAD
rs1362384117	p.Leu280Val	missense variant	-	NC_000015.10:g.89649059G>C	TOPMed
RCV000722752	p.Leu280Pro	missense variant	-	NC_000015.10:g.89649058A>G	ClinVar
rs1315005502	p.Ala281Thr	missense variant	-	NC_000015.10:g.89649056C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Leu282ArgPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.89649052A>-	NCI-TCGA
rs913243558	p.Val285Ile	missense variant	-	NC_000015.10:g.89649044C>T	TOPMed,gnomAD
rs1308503261	p.Ala288Thr	missense variant	-	NC_000015.10:g.89649035C>T	gnomAD
rs769602777	p.Leu289Val	missense variant	-	NC_000015.10:g.89649032G>C	ExAC,TOPMed,gnomAD
rs531693490	p.Gly290Glu	missense variant	-	NC_000015.10:g.89649028C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1167075751	p.Asp291Asn	missense variant	-	NC_000015.10:g.89649026C>T	gnomAD
rs1484840047	p.Asp291Gly	missense variant	-	NC_000015.10:g.89649025T>C	TOPMed
rs1458141610	p.Asp291Glu	missense variant	-	NC_000015.10:g.89649024G>T	TOPMed,gnomAD
rs749675548	p.Arg294Leu	missense variant	-	NC_000015.10:g.89649016C>A	TOPMed,gnomAD
rs1474561355	p.Arg295Trp	missense variant	-	NC_000015.10:g.89649014G>A	gnomAD
rs1257458364	p.Arg295Gln	missense variant	-	NC_000015.10:g.89649013C>T	gnomAD
rs1257458364	p.Arg295Leu	missense variant	-	NC_000015.10:g.89649013C>A	gnomAD
rs776621314	p.Gly296Asp	missense variant	-	NC_000015.10:g.89649010C>T	ExAC,TOPMed,gnomAD
rs776621314	p.Gly296Ala	missense variant	-	NC_000015.10:g.89649010C>G	ExAC,TOPMed,gnomAD
rs1198671838	p.His298Asp	missense variant	-	NC_000015.10:g.89649005G>C	gnomAD
rs1195572623	p.His298Arg	missense variant	-	NC_000015.10:g.89649004T>C	gnomAD
rs1427809417	p.Pro300Ala	missense variant	-	NC_000015.10:g.89648999G>C	TOPMed
rs1267389546	p.Arg302Cys	missense variant	-	NC_000015.10:g.89648993G>A	gnomAD
rs1242723111	p.Arg302Leu	missense variant	-	NC_000015.10:g.89648992C>A	gnomAD
rs1393932372	p.Asp303Asn	missense variant	-	NC_000015.10:g.89648990C>T	TOPMed
rs747038002	p.Ser304Cys	missense variant	-	NC_000015.10:g.89648986G>C	ExAC,TOPMed,gnomAD
rs747038002	p.Ser304Phe	missense variant	-	NC_000015.10:g.89648986G>A	ExAC,TOPMed,gnomAD
rs1411628239	p.Lys305Arg	missense variant	-	NC_000015.10:g.89648983T>C	gnomAD
rs564429116	p.Ile306Val	missense variant	-	NC_000015.10:g.89648981T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1287072764	p.Thr307Ser	missense variant	-	NC_000015.10:g.89648977G>C	TOPMed
rs954983148	p.Thr307Ser	missense variant	-	NC_000015.10:g.89648978T>A	TOPMed,gnomAD
rs184038436	p.Arg308Leu	missense variant	-	NC_000015.10:g.89648974C>A	gnomAD
rs1392444900	p.Arg308Trp	missense variant	-	NC_000015.10:g.89648975G>A	gnomAD
rs184038436	p.Arg308Gln	missense variant	-	NC_000015.10:g.89648974C>T	gnomAD
rs965570507	p.Ile309Met	missense variant	-	NC_000015.10:g.89648771G>C	TOPMed
rs1019422988	p.Lys311Asn	missense variant	-	NC_000015.10:g.89648765T>A	TOPMed,gnomAD
rs1320675092	p.Leu314Gln	missense variant	-	NC_000015.10:g.89648757A>T	TOPMed
rs1383459229	p.Gly316Arg	missense variant	-	NC_000015.10:g.89648752C>T	TOPMed,gnomAD
RCV000368715	p.Ala318Thr	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648746C>T	ClinVar
rs756368261	p.Ala318Thr	missense variant	-	NC_000015.10:g.89648746C>T	ExAC,TOPMed,gnomAD
rs1379776774	p.Ala318Val	missense variant	-	NC_000015.10:g.89648745G>A	gnomAD
rs1192120835	p.Lys319Asn	missense variant	-	NC_000015.10:g.89648741C>A	TOPMed,gnomAD
rs1454043852	p.Val321Leu	missense variant	-	NC_000015.10:g.89648737C>A	gnomAD
rs913347544	p.Val321Ala	missense variant	-	NC_000015.10:g.89648736A>G	TOPMed,gnomAD
rs1210677295	p.Met322Val	missense variant	-	NC_000015.10:g.89648734T>C	gnomAD
rs1048051000	p.Ile323Phe	missense variant	-	NC_000015.10:g.89648731T>A	TOPMed
rs1048051000	p.Ile323Val	missense variant	-	NC_000015.10:g.89648731T>C	TOPMed
rs1445303271	p.Ala324Thr	missense variant	-	NC_000015.10:g.89648728C>T	TOPMed,gnomAD
rs1201005975	p.Ser327Asn	missense variant	-	NC_000015.10:g.89648718C>T	gnomAD
RCV000722761	p.Pro328His	missense variant	-	NC_000015.10:g.89648715G>T	ClinVar
rs1347007869	p.Pro328Ser	missense variant	-	NC_000015.10:g.89648716G>A	gnomAD
rs1301049354	p.Ser329Pro	missense variant	-	NC_000015.10:g.89648713A>G	gnomAD
rs1315039116	p.Asp332Asn	missense variant	-	NC_000015.10:g.89648704C>T	TOPMed
COSM966371	p.Asp334Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89648698C>T	NCI-TCGA Cosmic
rs995129517	p.Leu337Phe	missense variant	-	NC_000015.10:g.89648689G>A	TOPMed
RCV000117409	p.Asn338Ser	missense variant	-	NC_000015.10:g.89648685T>C	ClinVar
rs587780373	p.Asn338Ser	missense variant	-	NC_000015.10:g.89648685T>C	-
rs1479773810	p.Thr339Pro	missense variant	-	NC_000015.10:g.89648683T>G	gnomAD
rs781662732	p.Leu340Pro	missense variant	-	NC_000015.10:g.89648679A>G	ExAC,gnomAD
rs757699508	p.Asn341Ser	missense variant	-	NC_000015.10:g.89648676T>C	ExAC,TOPMed,gnomAD
rs1172236161	p.Asn341Lys	missense variant	-	NC_000015.10:g.89648675G>T	gnomAD
RCV000594690	p.Tyr342Phe	missense variant	-	NC_000015.10:g.89648673T>A	ClinVar
rs1270119343	p.Tyr342Ter	stop gained	-	NC_000015.10:g.89648672G>C	TOPMed
rs894763666	p.Tyr342His	missense variant	-	NC_000015.10:g.89648674A>G	TOPMed
rs372182012	p.Tyr342Phe	missense variant	-	NC_000015.10:g.89648673T>A	TOPMed,gnomAD
rs536645226	p.Ala343Pro	missense variant	-	NC_000015.10:g.89648671C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs536645226	p.Ala343Thr	missense variant	-	NC_000015.10:g.89648671C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs764533193	p.Arg345His	missense variant	-	NC_000015.10:g.89648664C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala346Val	missense variant	-	NC_000015.10:g.89648661G>A	NCI-TCGA
rs1444126569	p.Gln347Ter	stop gained	-	NC_000015.10:g.89648659G>A	gnomAD
rs1202374747	p.Arg350Leu	missense variant	-	NC_000015.10:g.89648649C>A	TOPMed
rs1278014219	p.Asn351Lys	missense variant	-	NC_000015.10:g.89648645G>T	gnomAD
rs1342551459	p.Arg352His	missense variant	-	NC_000015.10:g.89648643C>T	TOPMed,gnomAD
rs1209902228	p.Arg352Cys	missense variant	-	NC_000015.10:g.89648644G>A	gnomAD
rs928814459	p.Ala353Ser	missense variant	-	NC_000015.10:g.89648641C>A	TOPMed,gnomAD
rs928814459	p.Ala353Pro	missense variant	-	NC_000015.10:g.89648641C>G	TOPMed,gnomAD
rs928814459	p.Ala353Thr	missense variant	-	NC_000015.10:g.89648641C>T	TOPMed,gnomAD
rs1209636794	p.Val355Ile	missense variant	-	NC_000015.10:g.89648635C>T	TOPMed
rs1255141600	p.Asn356His	missense variant	-	NC_000015.10:g.89648632T>G	TOPMed
rs1449579286	p.Trp357Gly	missense variant	-	NC_000015.10:g.89648629A>C	gnomAD
rs1357923425	p.Pro359Thr	missense variant	-	NC_000015.10:g.89648623G>T	gnomAD
rs1311533687	p.Glu360Lys	missense variant	-	NC_000015.10:g.89648620C>T	gnomAD
rs752296699	p.Glu362Gln	missense variant	-	NC_000015.10:g.89648614C>G	ExAC,TOPMed,gnomAD
rs1400779200	p.Arg363Gln	missense variant	-	NC_000015.10:g.89648610C>T	gnomAD
rs764965490	p.Pro364Ser	missense variant	-	NC_000015.10:g.89648608G>A	ExAC,TOPMed,gnomAD
RCV000179055	p.Pro365Thr	missense variant	-	NC_000015.10:g.89648605G>T	ClinVar
rs1163910200	p.Pro365Leu	missense variant	-	NC_000015.10:g.89648604G>A	gnomAD
rs794727742	p.Pro365Ala	missense variant	-	NC_000015.10:g.89648605G>C	TOPMed,gnomAD
rs794727742	p.Pro365Thr	missense variant	-	NC_000015.10:g.89648605G>T	TOPMed,gnomAD
rs1473783632	p.Glu366Lys	missense variant	-	NC_000015.10:g.89648602C>T	TOPMed,gnomAD
rs1255343241	p.Glu367Val	missense variant	-	NC_000015.10:g.89648598T>A	gnomAD
rs1187090250	p.Glu367Asp	missense variant	-	NC_000015.10:g.89648597C>G	TOPMed,gnomAD
RCV000082811	p.Thr368Ala	missense variant	-	NC_000015.10:g.89648596T>C	ClinVar
rs8037349	p.Thr368Pro	missense variant	-	NC_000015.10:g.89648596T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1253774672	p.Thr368Lys	missense variant	-	NC_000015.10:g.89648595G>T	gnomAD
RCV000394862	p.Thr368Ala	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648596T>C	ClinVar
rs8037349	p.Thr368Ala	missense variant	-	NC_000015.10:g.89648596T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1202169554	p.Ala369Glu	missense variant	-	NC_000015.10:g.89648592G>T	gnomAD
RCV000400594	p.Ala369Ter	frameshift	-	NC_000015.10:g.89648592del	ClinVar
rs1439252969	p.Ser370Asn	missense variant	-	NC_000015.10:g.89648589C>T	TOPMed,gnomAD
rs1439252969	p.Ser370Thr	missense variant	-	NC_000015.10:g.89648589C>G	TOPMed,gnomAD
rs1290065337	p.Gly371Asp	missense variant	-	NC_000015.10:g.89648586C>T	gnomAD
rs1306629173	p.Gly371Ser	missense variant	-	NC_000015.10:g.89648587C>T	gnomAD
rs1331968966	p.Ala372Glu	missense variant	-	NC_000015.10:g.89648583G>T	gnomAD
rs1229552986	p.Ala372Ser	missense variant	-	NC_000015.10:g.89648584C>A	gnomAD
rs1331968966	p.Ala372Val	missense variant	-	NC_000015.10:g.89648583G>A	gnomAD
rs1229552986	p.Ala372Thr	missense variant	-	NC_000015.10:g.89648584C>T	gnomAD
rs1292098815	p.Arg373Pro	missense variant	-	NC_000015.10:g.89648580C>G	TOPMed,gnomAD
rs1292098815	p.Arg373Gln	missense variant	-	NC_000015.10:g.89648580C>T	TOPMed,gnomAD
rs1233260819	p.Gly374Cys	missense variant	-	NC_000015.10:g.89648578C>A	TOPMed,gnomAD
rs1351627537	p.Gly374Val	missense variant	-	NC_000015.10:g.89648577C>A	TOPMed,gnomAD
rs1351627537	p.Gly374Asp	missense variant	-	NC_000015.10:g.89648577C>T	TOPMed,gnomAD
rs557460012	p.Pro375Leu	missense variant	-	NC_000015.10:g.89648574G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1300335031	p.Pro375Ser	missense variant	-	NC_000015.10:g.89648575G>A	gnomAD
rs557460012	p.Pro375Gln	missense variant	-	NC_000015.10:g.89648574G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1324387832	p.Pro376Leu	missense variant	-	NC_000015.10:g.89648571G>A	TOPMed,gnomAD
rs539554255	p.Arg377Leu	missense variant	-	NC_000015.10:g.89648568C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1463110793	p.Arg377Trp	missense variant	-	NC_000015.10:g.89648569G>A	TOPMed,gnomAD
rs539554255	p.Arg377Gln	missense variant	-	NC_000015.10:g.89648568C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs539554255	p.Arg377Pro	missense variant	-	NC_000015.10:g.89648568C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs760397762	p.His378Gln	missense variant	-	NC_000015.10:g.89648564G>C	ExAC,TOPMed,gnomAD
rs1164279929	p.His378Pro	missense variant	-	NC_000015.10:g.89648565T>G	gnomAD
rs1414086463	p.Arg379Pro	missense variant	-	NC_000015.10:g.89648562C>G	TOPMed,gnomAD
rs1414086463	p.Arg379Leu	missense variant	-	NC_000015.10:g.89648562C>A	TOPMed,gnomAD
rs914657562	p.Ser380Cys	missense variant	-	NC_000015.10:g.89648559G>C	TOPMed,gnomAD
rs1180657517	p.Glu381Asp	missense variant	-	NC_000015.10:g.89648555C>A	gnomAD
rs565416052	p.Glu381Ter	stop gained	-	NC_000015.10:g.89648557C>A	1000Genomes,TOPMed
rs565416052	p.Glu381Lys	missense variant	-	NC_000015.10:g.89648557C>T	1000Genomes,TOPMed
rs1246950817	p.Thr382Ile	missense variant	-	NC_000015.10:g.89648553G>A	gnomAD
rs1223367049	p.Arg383Leu	missense variant	-	NC_000015.10:g.89648550C>A	gnomAD
rs990184526	p.Ile384Asn	missense variant	-	NC_000015.10:g.89648547A>T	TOPMed
rs1208805083	p.His386Gln	missense variant	-	NC_000015.10:g.89648540G>T	TOPMed,gnomAD
RCV000335286	p.His386Leu	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648541T>A	ClinVar
rs886051537	p.His386Leu	missense variant	-	NC_000015.10:g.89648541T>A	TOPMed,gnomAD
rs587780374	p.Arg387Ser	missense variant	-	NC_000015.10:g.89648539G>T	gnomAD
RCV000117410	p.Arg387Ser	missense variant	-	NC_000015.10:g.89648539G>T	ClinVar
rs1443757855	p.Gly388Val	missense variant	-	NC_000015.10:g.89648535C>A	TOPMed
rs773149035	p.Gly388Ser	missense variant	-	NC_000015.10:g.89648536C>T	ExAC,gnomAD
rs1373000195	p.Arg389Trp	missense variant	-	NC_000015.10:g.89648533G>A	gnomAD
rs1371167571	p.Arg389Gln	missense variant	-	NC_000015.10:g.89648532C>T	TOPMed
rs553968087	p.Gly393Cys	missense variant	-	NC_000015.10:g.89648521C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000298981	p.Gly393Cys	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648521C>A	ClinVar
RCV000725358	p.Gly393Cys	missense variant	-	NC_000015.10:g.89648521C>A	ClinVar
RCV000764005	p.Gly393Cys	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648521C>A	ClinVar
rs1298790380	p.Pro394Ser	missense variant	-	NC_000015.10:g.89648518G>A	TOPMed
rs535621809	p.Ala397Thr	missense variant	-	NC_000015.10:g.89648509C>T	1000Genomes,TOPMed,gnomAD
rs1004008713	p.Ala397Val	missense variant	-	NC_000015.10:g.89648508G>A	TOPMed
RCV000273740	p.Ala397Thr	missense variant	-	NC_000015.10:g.89648509C>T	ClinVar
rs1326725262	p.Ser398Pro	missense variant	-	NC_000015.10:g.89648506A>G	TOPMed
rs1273718375	p.Ala400Thr	missense variant	-	NC_000015.10:g.89648500C>T	TOPMed
rs1189578884	p.Ala401Gly	missense variant	-	NC_000015.10:g.89648496G>C	TOPMed
rs1419911490	p.Met403Thr	missense variant	-	NC_000015.10:g.89648490A>G	TOPMed
rs1283535550	p.Arg404His	missense variant	-	NC_000015.10:g.89648487C>T	TOPMed,gnomAD
rs1463332375	p.Gly406Ala	missense variant	-	NC_000015.10:g.89648481C>G	TOPMed
rs587780375	p.Ala407Asp	missense variant	-	NC_000015.10:g.89648478G>T	TOPMed,gnomAD
rs1457777027	p.Ala407Ser	missense variant	-	NC_000015.10:g.89648479C>A	gnomAD
rs587780375	p.Ala407Val	missense variant	-	NC_000015.10:g.89648478G>A	TOPMed,gnomAD
RCV000531754	p.Ala407Asp	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648478G>T	ClinVar
rs1305842397	p.Glu408Val	missense variant	-	NC_000015.10:g.89648475T>A	TOPMed
rs1374799870	p.Glu408Lys	missense variant	-	NC_000015.10:g.89648476C>T	TOPMed
rs1234874847	p.Ala410Val	missense variant	-	NC_000015.10:g.89648469G>A	TOPMed
rs1334100370	p.Arg413Gly	missense variant	-	NC_000015.10:g.89648461G>C	TOPMed
rs1219215322	p.Ala414Thr	missense variant	-	NC_000015.10:g.89648458C>T	TOPMed
rs1418318479	p.Cys415Ser	missense variant	-	NC_000015.10:g.89648454C>G	gnomAD
rs1418318479	p.Cys415Phe	missense variant	-	NC_000015.10:g.89648454C>A	gnomAD
rs1334118917	p.Ala418Val	missense variant	-	NC_000015.10:g.89648445G>A	TOPMed,gnomAD
rs1192692567	p.Ala419Ser	missense variant	-	NC_000015.10:g.89648443C>A	gnomAD
RCV000500775	p.Ser421Asn	missense variant	-	NC_000015.10:g.89648436C>T	ClinVar
rs1555424863	p.Ser421Asn	missense variant	-	NC_000015.10:g.89648436C>T	-
rs1003549826	p.Leu422Phe	missense variant	-	NC_000015.10:g.89648434G>A	TOPMed
rs1003549826	p.Leu422Val	missense variant	-	NC_000015.10:g.89648434G>C	TOPMed
rs550404869	p.Arg424Cys	missense variant	-	NC_000015.10:g.89648428G>A	1000Genomes,TOPMed,gnomAD
RCV000179052	p.Arg424Cys	missense variant	-	NC_000015.10:g.89648428G>A	ClinVar
rs946190172	p.Glu429Lys	missense variant	-	NC_000015.10:g.89648413C>T	TOPMed
rs1297297468	p.Glu429Asp	missense variant	-	NC_000015.10:g.89648411C>A	TOPMed
rs1368352498	p.Pro430Ala	missense variant	-	NC_000015.10:g.89648410G>C	TOPMed
rs1293694840	p.Gly431Arg	missense variant	-	NC_000015.10:g.89648407C>T	TOPMed
rs932033181	p.Pro433Thr	missense variant	-	NC_000015.10:g.89648401G>T	TOPMed,gnomAD
rs1297621505	p.Pro433Leu	missense variant	-	NC_000015.10:g.89648400G>A	TOPMed
RCV000722741	p.Pro433Thr	missense variant	-	NC_000015.10:g.89648401_89648402delinsTT	ClinVar
rs1272520977	p.Gly434Arg	missense variant	-	NC_000015.10:g.89648398C>G	TOPMed
rs976073468	p.Ala435Val	missense variant	-	NC_000015.10:g.89648394G>A	TOPMed
rs943953208	p.Ala436Val	missense variant	-	NC_000015.10:g.89648391G>A	TOPMed,gnomAD
rs912476277	p.Ala437Thr	missense variant	-	NC_000015.10:g.89648389C>T	TOPMed,gnomAD
rs912476277	p.Ala437Ser	missense variant	-	NC_000015.10:g.89648389C>A	TOPMed,gnomAD
rs1263045856	p.Arg438Cys	missense variant	-	NC_000015.10:g.89648386G>A	TOPMed,gnomAD
rs1428404363	p.Arg438His	missense variant	-	NC_000015.10:g.89648385C>T	TOPMed
rs1214331197	p.Arg441His	missense variant	-	NC_000015.10:g.89648376C>T	TOPMed,gnomAD
rs1214331197	p.Arg441Leu	missense variant	-	NC_000015.10:g.89648376C>A	TOPMed,gnomAD
rs747307729	p.Asp442Tyr	missense variant	-	NC_000015.10:g.89648374C>A	TOPMed,gnomAD
rs1444012324	p.Trp443Ter	stop gained	-	NC_000015.10:g.89648369C>T	TOPMed,gnomAD
rs749334538	p.Trp443Arg	missense variant	-	NC_000015.10:g.89648371A>T	ExAC,gnomAD
rs531899410	p.Cys445Ter	stop gained	-	NC_000015.10:g.89648363G>T	1000Genomes
rs951204252	p.Ala446Asp	missense variant	-	NC_000015.10:g.89648361G>T	TOPMed
rs1302882729	p.Glu450Lys	missense variant	-	NC_000015.10:g.89648350C>T	TOPMed,gnomAD
rs1364124129	p.Arg451Ser	missense variant	-	NC_000015.10:g.89648347G>T	TOPMed,gnomAD
RCV000379358	p.Ala453Val	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648340G>A	ClinVar
rs886051532	p.Ala453Asp	missense variant	-	NC_000015.10:g.89648340G>T	TOPMed,gnomAD
rs886051532	p.Ala453Val	missense variant	-	NC_000015.10:g.89648340G>A	TOPMed,gnomAD
rs1359666117	p.Ser455Cys	missense variant	-	NC_000015.10:g.89648335T>A	gnomAD
rs1175288371	p.Ser456Phe	missense variant	-	NC_000015.10:g.89648331G>A	TOPMed,gnomAD
rs1394120733	p.Ala457Asp	missense variant	-	NC_000015.10:g.89648328G>T	TOPMed,gnomAD
rs1485836507	p.Gly459Arg	missense variant	-	NC_000015.10:g.89648323C>T	TOPMed
rs1429893583	p.Pro460Ser	missense variant	-	NC_000015.10:g.89648320G>A	TOPMed,gnomAD
rs1429893583	p.Pro460Thr	missense variant	-	NC_000015.10:g.89648320G>T	TOPMed,gnomAD
rs1185420675	p.Asp461Asn	missense variant	-	NC_000015.10:g.89648317C>T	gnomAD
rs1455184212	p.Ser462Gly	missense variant	-	NC_000015.10:g.89648314T>C	TOPMed
rs1485867610	p.Gly463Ser	missense variant	-	NC_000015.10:g.89648311C>T	TOPMed,gnomAD
rs1238493916	p.Gly463Asp	missense variant	-	NC_000015.10:g.89648310C>T	gnomAD
rs1355045012	p.Ile464Met	missense variant	-	NC_000015.10:g.89648306G>C	TOPMed,gnomAD
rs570856269	p.Ile464Val	missense variant	-	NC_000015.10:g.89648308T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000322469	p.Ile464Val	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89648308T>C	ClinVar
rs1346111280	p.Ser466Gly	missense variant	-	NC_000015.10:g.89648302T>C	gnomAD
rs1229468079	p.Ala467Val	missense variant	-	NC_000015.10:g.89648298G>A	gnomAD
rs1309467371	p.Ser468Thr	missense variant	-	NC_000015.10:g.89648296A>T	gnomAD
rs922192277	p.Asp471Ala	missense variant	-	NC_000015.10:g.89648286T>G	TOPMed,gnomAD
rs794727744	p.Ala473Val	missense variant	-	NC_000015.10:g.89648280G>A	gnomAD
RCV000179057	p.Ala473Gly	missense variant	-	NC_000015.10:g.89648280G>C	ClinVar
rs794727744	p.Ala473Gly	missense variant	-	NC_000015.10:g.89648280G>C	gnomAD
rs1374666466	p.Ala474Val	missense variant	-	NC_000015.10:g.89648277G>A	gnomAD
rs746154896	p.Ala474Thr	missense variant	-	NC_000015.10:g.89648278C>T	ExAC,gnomAD
rs963508592	p.Gln475Pro	missense variant	-	NC_000015.10:g.89648274T>G	TOPMed,gnomAD
rs932064476	p.Gly476Trp	missense variant	-	NC_000015.10:g.89648272C>A	TOPMed
rs527804875	p.Ala477Thr	missense variant	-	NC_000015.10:g.89648269C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000248504	p.Ala477Thr	missense variant	-	NC_000015.10:g.89648269C>T	ClinVar
rs1040813926	p.Gly478Asp	missense variant	-	NC_000015.10:g.89648265C>T	TOPMed,gnomAD
rs1190648779	p.Lys481Arg	missense variant	-	NC_000015.10:g.89648256T>C	gnomAD
rs1045937674	p.Glu482Val	missense variant	-	NC_000015.10:g.89647711T>A	TOPMed,gnomAD
rs900459039	p.Glu484Lys	missense variant	-	NC_000015.10:g.89647706C>T	TOPMed,gnomAD
rs1305987882	p.Ala486Val	missense variant	-	NC_000015.10:g.89647699G>A	gnomAD
rs776875275	p.Ala486Ser	missense variant	-	NC_000015.10:g.89647700C>A	ExAC,TOPMed,gnomAD
rs776875275	p.Ala486Thr	missense variant	-	NC_000015.10:g.89647700C>T	ExAC,TOPMed,gnomAD
rs1396213606	p.Gln487Lys	missense variant	-	NC_000015.10:g.89647697G>T	gnomAD
rs747377638	p.Leu489Met	missense variant	-	NC_000015.10:g.89647691G>T	ExAC,TOPMed,gnomAD
rs778060579	p.Thr491Asn	missense variant	-	NC_000015.10:g.89647684G>T	ExAC,gnomAD
rs1455773792	p.Gln493Ter	stop gained	-	NC_000015.10:g.89647679G>A	gnomAD
rs1313323843	p.Asn494Ser	missense variant	-	NC_000015.10:g.89647675T>C	TOPMed
NCI-TCGA novel	p.Asn494Lys	missense variant	-	NC_000015.10:g.89647674G>C	NCI-TCGA
rs1362468897	p.Gln495His	missense variant	-	NC_000015.10:g.89647671C>A	gnomAD
rs758971206	p.Val496Leu	missense variant	-	NC_000015.10:g.89647670C>G	ExAC,TOPMed,gnomAD
rs201380238	p.Ala497Val	missense variant	-	NC_000015.10:g.89647666G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs779573009	p.Arg498Trp	missense variant	-	NC_000015.10:g.89647664G>A	ExAC,gnomAD
rs754486000	p.Arg498Gln	missense variant	-	NC_000015.10:g.89647663C>T	ExAC,gnomAD
rs1206868473	p.Glu500Gly	missense variant	-	NC_000015.10:g.89647657T>C	gnomAD
rs1348428914	p.Glu501Lys	missense variant	-	NC_000015.10:g.89647655C>T	gnomAD
rs755770116	p.Arg504Ter	stop gained	-	NC_000015.10:g.89647646G>A	ExAC,gnomAD
rs377280724	p.Asp505Glu	missense variant	-	NC_000015.10:g.89647641G>C	ESP,ExAC,TOPMed,gnomAD
rs761599926	p.Phe506Cys	missense variant	-	NC_000015.10:g.89647639A>C	ExAC,gnomAD
rs767365479	p.Phe506Leu	missense variant	-	NC_000015.10:g.89647640A>G	ExAC,gnomAD
rs774225268	p.Leu507Val	missense variant	-	NC_000015.10:g.89647637G>C	ExAC,gnomAD
rs764052631	p.Ala508Ser	missense variant	-	NC_000015.10:g.89647634C>A	ExAC,gnomAD
rs1403008224	p.Ala509Val	missense variant	-	NC_000015.10:g.89647630G>A	gnomAD
rs1397142983	p.Glu511Asp	missense variant	-	NC_000015.10:g.89647623C>G	gnomAD
rs771174344	p.Glu511Ala	missense variant	-	NC_000015.10:g.89647624T>G	ExAC,gnomAD
COSM6143160	p.Glu511Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.89647625C>A	NCI-TCGA Cosmic
COSM3505305	p.Met514Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89647614C>G	NCI-TCGA Cosmic
rs1250146203	p.Gln516Lys	missense variant	-	NC_000015.10:g.89647610G>T	TOPMed
NCI-TCGA novel	p.Gln516Ter	stop gained	-	NC_000015.10:g.89647610G>A	NCI-TCGA
rs1453971108	p.Tyr517Ter	stop gained	-	NC_000015.10:g.89647605G>T	gnomAD
rs957015169	p.Lys518Gln	missense variant	-	NC_000015.10:g.89647604T>G	TOPMed
rs773577708	p.Leu519Pro	missense variant	-	NC_000015.10:g.89647600A>G	ExAC,gnomAD
rs1242830030	p.Leu519Val	missense variant	-	NC_000015.10:g.89647601G>C	gnomAD
rs772511735	p.Gln520Arg	missense variant	-	NC_000015.10:g.89647597T>C	ExAC,gnomAD
rs1445212362	p.Gln520Ter	stop gained	-	NC_000015.10:g.89647598G>A	gnomAD
NCI-TCGA novel	p.Gln520Lys	missense variant	-	NC_000015.10:g.89647598G>T	NCI-TCGA
rs774902437	p.Asp522Asn	missense variant	-	NC_000015.10:g.89647054C>T	ExAC,TOPMed,gnomAD
rs774902437	p.Asp522His	missense variant	-	NC_000015.10:g.89647054C>G	ExAC,TOPMed,gnomAD
rs946470040	p.Arg523Trp	missense variant	-	NC_000015.10:g.89647051G>A	TOPMed,gnomAD
rs769192339	p.Arg523Gln	missense variant	-	NC_000015.10:g.89647050C>T	ExAC,TOPMed,gnomAD
rs780615343	p.Arg525Cys	missense variant	-	NC_000015.10:g.89647045G>A	ExAC,gnomAD
rs769127608	p.Arg525His	missense variant	-	NC_000015.10:g.89647044C>T	ExAC,TOPMed,gnomAD
rs1436845524	p.Glu526Lys	missense variant	-	NC_000015.10:g.89647042C>T	gnomAD
rs1273337515	p.Gln527Ter	stop gained	-	NC_000015.10:g.89647039G>A	gnomAD
rs142282670	p.Gln528Pro	missense variant	-	NC_000015.10:g.89647035T>G	ESP,ExAC,TOPMed,gnomAD
rs142282670	p.Gln528Arg	missense variant	-	NC_000015.10:g.89647035T>C	ESP,ExAC,TOPMed,gnomAD
rs377625808	p.Glu529Gln	missense variant	-	NC_000015.10:g.89647033C>G	ESP,ExAC,TOPMed,gnomAD
rs891654422	p.Glu530Ala	missense variant	-	NC_000015.10:g.89647029T>G	TOPMed
rs1364028483	p.Met531Leu	missense variant	-	NC_000015.10:g.89647027T>A	TOPMed
rs1228139593	p.Met531Lys	missense variant	-	NC_000015.10:g.89647026A>T	gnomAD
rs1224705606	p.Val532Ala	missense variant	-	NC_000015.10:g.89647023A>G	TOPMed
rs1374554878	p.Glu533Lys	missense variant	-	NC_000015.10:g.89647021C>T	gnomAD
rs1276471321	p.Glu533Gly	missense variant	-	NC_000015.10:g.89647020T>C	TOPMed
rs751344600	p.Leu534Met	missense variant	-	NC_000015.10:g.89647018G>T	ExAC,gnomAD
rs777615277	p.Leu534Gln	missense variant	-	NC_000015.10:g.89647017A>T	ExAC,gnomAD
rs758219521	p.Arg535Trp	missense variant	-	NC_000015.10:g.89647015G>A	ExAC,TOPMed,gnomAD
rs1326668086	p.Arg535Gln	missense variant	-	NC_000015.10:g.89647014C>T	gnomAD
rs1326668086	p.Arg535Pro	missense variant	-	NC_000015.10:g.89647014C>G	gnomAD
rs1163941455	p.Arg537Gln	missense variant	-	NC_000015.10:g.89647008C>T	gnomAD
rs752524061	p.Arg537Trp	missense variant	-	NC_000015.10:g.89647009G>A	ExAC,TOPMed,gnomAD
rs1409958046	p.Val541Met	missense variant	-	NC_000015.10:g.89646997C>T	gnomAD
NCI-TCGA novel	p.Arg542Gln	missense variant	-	NC_000015.10:g.89646993C>T	NCI-TCGA
rs1194977061	p.Pro543Leu	missense variant	-	NC_000015.10:g.89646990G>A	gnomAD
rs767823809	p.Trp545Cys	missense variant	-	NC_000015.10:g.89646983C>G	ExAC,TOPMed,gnomAD
rs750567055	p.Trp545Ter	stop gained	-	NC_000015.10:g.89646984C>T	ExAC,TOPMed,gnomAD
rs750567055	p.Trp545Leu	missense variant	-	NC_000015.10:g.89646984C>A	ExAC,TOPMed,gnomAD
rs750567055	p.Trp545Ser	missense variant	-	NC_000015.10:g.89646984C>G	ExAC,TOPMed,gnomAD
rs1221535786	p.Gly546Glu	missense variant	-	NC_000015.10:g.89646981C>T	gnomAD
rs1247429462	p.Gly547Cys	missense variant	-	NC_000015.10:g.89646979C>A	TOPMed
rs774048463	p.Gly547AlaPheSerTerUnk	frameshift	-	NC_000015.10:g.89646978C>-	NCI-TCGA,NCI-TCGA Cosmic
rs369168569	p.Pro548Leu	missense variant	-	NC_000015.10:g.89646975G>A	ESP,ExAC,TOPMed,gnomAD
RCV000604949	p.Arg549Ter	frameshift	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89646977dup	ClinVar
rs1222355686	p.Arg549Leu	missense variant	-	NC_000015.10:g.89646972C>A	TOPMed,gnomAD
rs1222355686	p.Arg549Gln	missense variant	-	NC_000015.10:g.89646972C>T	TOPMed,gnomAD
rs770571299	p.Arg549AlaPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.89646977_89646978insC	NCI-TCGA,NCI-TCGA Cosmic
rs763388257	p.Leu550Phe	missense variant	-	NC_000015.10:g.89646970G>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu551Pro	missense variant	-	NC_000015.10:g.89646966A>G	NCI-TCGA
rs151155363	p.Pro555Ser	missense variant	-	NC_000015.10:g.89646955G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs745360830	p.Pro555Arg	missense variant	-	NC_000015.10:g.89646954G>C	ExAC,gnomAD
rs780740523	p.Gly557Arg	missense variant	-	NC_000015.10:g.89646949C>T	ExAC,TOPMed,gnomAD
rs780740523	p.Gly557Trp	missense variant	-	NC_000015.10:g.89646949C>A	ExAC,TOPMed,gnomAD
rs746600720	p.Ser558Thr	missense variant	-	NC_000015.10:g.89646946A>T	ExAC,TOPMed,gnomAD
COSM4943067	p.Ser558Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89646945G>T	NCI-TCGA Cosmic
rs1217875912	p.Pro561Leu	missense variant	-	NC_000015.10:g.89646936G>A	gnomAD
rs1325092086	p.Pro561Ser	missense variant	-	NC_000015.10:g.89646937G>A	TOPMed
rs1325092086	p.Pro561Thr	missense variant	-	NC_000015.10:g.89646937G>T	TOPMed
NCI-TCGA novel	p.Pro561His	missense variant	-	NC_000015.10:g.89646936G>T	NCI-TCGA
rs777497706	p.Arg562Gln	missense variant	-	NC_000015.10:g.89646933C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg562Ter	stop gained	-	NC_000015.10:g.89646934G>A	NCI-TCGA
rs548587196	p.Pro563Ser	missense variant	-	NC_000015.10:g.89646931G>A	1000Genomes,ExAC,gnomAD
rs1244277390	p.Thr565Ala	missense variant	-	NC_000015.10:g.89646925T>C	gnomAD
rs536773143	p.Ala566Val	missense variant	-	NC_000015.10:g.89646921G>A	1000Genomes,ExAC,TOPMed
rs536773143	p.Ala566Gly	missense variant	-	NC_000015.10:g.89646921G>C	1000Genomes,ExAC,TOPMed
rs1232303308	p.Ala566Ser	missense variant	-	NC_000015.10:g.89646922C>A	TOPMed
rs1353389253	p.Pro567Leu	missense variant	-	NC_000015.10:g.89646918G>A	gnomAD
rs772716663	p.Leu568ProPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.89646915_89646916insG	NCI-TCGA,NCI-TCGA Cosmic
COSM1375354	p.Leu568TrpPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.89646916G>-	NCI-TCGA Cosmic
RCV000413190	p.Gly570Asp	missense variant	-	NC_000015.10:g.89646909C>T	ClinVar
rs569225496	p.Gly570Arg	missense variant	-	NC_000015.10:g.89646910C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1057517751	p.Gly570Val	missense variant	-	NC_000015.10:g.89646909C>A	TOPMed,gnomAD
COSM2015651	p.Gly570ValPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.89646909C>-	NCI-TCGA Cosmic
rs1057517751	p.Gly570Asp	missense variant	-	NC_000015.10:g.89646909C>T	TOPMed,gnomAD
rs140185951	p.Ala571Thr	missense variant	-	NC_000015.10:g.89646907C>T	ESP,ExAC,TOPMed
rs1215172653	p.Ala571Val	missense variant	-	NC_000015.10:g.89646906G>A	gnomAD
rs761986123	p.His572Asn	missense variant	-	NC_000015.10:g.89646904G>T	ExAC,gnomAD
rs369321011	p.Ala573Thr	missense variant	-	NC_000015.10:g.89646901C>T	ESP,ExAC,TOPMed,gnomAD
rs1314470026	p.Val575Gly	missense variant	-	NC_000015.10:g.89646894A>C	gnomAD
rs1159063378	p.Gly577Arg	missense variant	-	NC_000015.10:g.89646889C>G	TOPMed
rs963468113	p.Gly577Asp	missense variant	-	NC_000015.10:g.89646888C>T	TOPMed
rs1294736804	p.Met578Val	missense variant	-	NC_000015.10:g.89646886T>C	TOPMed
rs531366745	p.Val579Met	missense variant	-	NC_000015.10:g.89646883C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs531366745	p.Val579Leu	missense variant	-	NC_000015.10:g.89646883C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000203145	p.Pro580Leu	missense variant	-	NC_000015.10:g.89646879G>A	ClinVar
rs564412082	p.Pro580Leu	missense variant	-	NC_000015.10:g.89646879G>A	1000Genomes,ExAC,gnomAD
rs769897141	p.Pro581Thr	missense variant	-	NC_000015.10:g.89646877G>T	ExAC,TOPMed,gnomAD
rs769897141	p.Pro581Ala	missense variant	-	NC_000015.10:g.89646877G>C	ExAC,TOPMed,gnomAD
rs770372033	p.Leu584Phe	missense variant	-	NC_000015.10:g.89646868G>A	ExAC,gnomAD
rs1213467135	p.Pro585Arg	missense variant	-	NC_000015.10:g.89646864G>C	gnomAD
rs746549341	p.Glu588Lys	missense variant	-	NC_000015.10:g.89646856C>T	ExAC,TOPMed,gnomAD
rs772703638	p.Glu588Ala	missense variant	-	NC_000015.10:g.89646855T>G	ExAC,TOPMed,gnomAD
COSM458935	p.Glu592Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89646844C>G	NCI-TCGA Cosmic
rs1228276726	p.Arg594Gly	missense variant	-	NC_000015.10:g.89646838T>C	TOPMed,gnomAD
rs771793486	p.Gly595Arg	missense variant	-	NC_000015.10:g.89646835C>T	ExAC,gnomAD
NCI-TCGA novel	p.Gly595Ter	stop gained	-	NC_000015.10:g.89646835C>A	NCI-TCGA
NCI-TCGA novel	p.Val598Met	missense variant	-	NC_000015.10:g.89646023C>T	NCI-TCGA
rs1331294307	p.Thr599Ile	missense variant	-	NC_000015.10:g.89646019G>A	TOPMed
rs765678770	p.Asn600Asp	missense variant	-	NC_000015.10:g.89646017T>C	TOPMed
rs756170615	p.Arg602Trp	missense variant	-	NC_000015.10:g.89646011T>A	ExAC,TOPMed,gnomAD
rs576856116	p.Glu603Lys	missense variant	-	NC_000015.10:g.89646008C>T	1000Genomes,ExAC,gnomAD
rs761922179	p.Glu603Val	missense variant	-	NC_000015.10:g.89646007T>A	ExAC,TOPMed,gnomAD
rs758413579	p.Ala606Gly	missense variant	-	NC_000015.10:g.89645998G>C	ExAC,gnomAD
rs201152117	p.Leu608Phe	missense variant	-	NC_000015.10:g.89645991C>A	TOPMed,gnomAD
rs993149094	p.Glu611Val	missense variant	-	NC_000015.10:g.89645983T>A	TOPMed,gnomAD
rs993149094	p.Glu611Gly	missense variant	-	NC_000015.10:g.89645983T>C	TOPMed,gnomAD
COSM1301558	p.Glu611Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89645984C>T	NCI-TCGA Cosmic
rs752909113	p.Asn613Lys	missense variant	-	NC_000015.10:g.89645976G>T	ExAC,TOPMed,gnomAD
rs1031698510	p.Arg614Lys	missense variant	-	NC_000015.10:g.89645974C>T	TOPMed,gnomAD
rs765469300	p.Leu615Met	missense variant	-	NC_000015.10:g.89645972G>T	ExAC,TOPMed,gnomAD
rs1351864265	p.Leu615Pro	missense variant	-	NC_000015.10:g.89645971A>G	gnomAD
rs755299478	p.Ser617Gly	missense variant	-	NC_000015.10:g.89645966T>C	ExAC,gnomAD
rs754245298	p.Gly618Val	missense variant	-	NC_000015.10:g.89645962C>A	ExAC,TOPMed,gnomAD
rs754245298	p.Gly618Asp	missense variant	-	NC_000015.10:g.89645962C>T	ExAC,TOPMed,gnomAD
rs776869340	p.Ser620Leu	missense variant	-	NC_000015.10:g.89645956G>A	ExAC,TOPMed,gnomAD
rs761298232	p.Ala621Gly	missense variant	-	NC_000015.10:g.89645953G>C	ExAC,TOPMed,gnomAD
rs749893989	p.Ala622Thr	missense variant	-	NC_000015.10:g.89645951C>T	ExAC,TOPMed,gnomAD
rs761241253	p.Ser623Ter	stop gained	-	NC_000015.10:g.89645947G>T	ExAC,gnomAD
rs766982588	p.Ser623Ala	missense variant	-	NC_000015.10:g.89645948A>C	ExAC,TOPMed,gnomAD
rs1239886550	p.Glu624Gly	missense variant	-	NC_000015.10:g.89645944T>C	TOPMed
rs1260155163	p.Glu625Gly	missense variant	-	NC_000015.10:g.89645941T>C	TOPMed
rs768761617	p.Glu628Ter	stop gained	-	NC_000015.10:g.89645933C>A	ExAC,gnomAD
rs149814240	p.Glu629Lys	missense variant	-	NC_000015.10:g.89645930C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000253761	p.Glu629Lys	missense variant	-	NC_000015.10:g.89645930C>T	ClinVar
COSM4825061	p.Glu631Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89645924C>T	NCI-TCGA Cosmic
RCV000422196	p.Pro632Leu	missense variant	-	NC_000015.10:g.89645920G>A	ClinVar
rs115857753	p.Pro632Arg	missense variant	-	NC_000015.10:g.89645920G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1254624184	p.Pro632Ala	missense variant	-	NC_000015.10:g.89645921G>C	TOPMed
rs115857753	p.Pro632Leu	missense variant	-	NC_000015.10:g.89645920G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs745753735	p.Pro633Ser	missense variant	-	NC_000015.10:g.89645918G>A	ExAC,gnomAD
rs747191989	p.Arg635Pro	missense variant	-	NC_000015.10:g.89645911C>G	TOPMed,gnomAD
rs150543610	p.Arg635Trp	missense variant	-	NC_000015.10:g.89645912G>A	ESP,ExAC,TOPMed,gnomAD
rs747191989	p.Arg635Gln	missense variant	-	NC_000015.10:g.89645911C>T	TOPMed,gnomAD
rs573596238	p.Thr636Ala	missense variant	-	NC_000015.10:g.89645909T>C	1000Genomes,ExAC,gnomAD
rs1285010636	p.Thr636Asn	missense variant	-	NC_000015.10:g.89645908G>T	TOPMed,gnomAD
rs779079784	p.Leu637Phe	missense variant	-	NC_000015.10:g.89645904T>A	ExAC,gnomAD
rs748210059	p.Leu637Ser	missense variant	-	NC_000015.10:g.89645905A>G	ExAC,gnomAD
rs1231810846	p.His638Tyr	missense variant	-	NC_000015.10:g.89645903G>A	gnomAD
rs553948489	p.Arg640Cys	missense variant	-	NC_000015.10:g.89645897G>A	ExAC,TOPMed,gnomAD
rs780460647	p.Arg640His	missense variant	-	NC_000015.10:g.89645896C>T	ExAC,TOPMed,gnomAD
rs137905815	p.Arg641Gly	missense variant	Bardet-Biedl syndrome (BBS)	NC_000015.10:g.89645894T>C	UniProt,dbSNP
VAR_066451	p.Arg641Gly	missense variant	Bardet-Biedl syndrome (BBS)	NC_000015.10:g.89645894T>C	UniProt
rs137905815	p.Arg641Gly	missense variant	-	NC_000015.10:g.89645894T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Arg641Ile	missense variant	-	NC_000015.10:g.89645893C>A	NCI-TCGA
rs374723046	p.Asn642Ser	missense variant	-	NC_000015.10:g.89645449T>C	ESP,ExAC,TOPMed,gnomAD
rs1444985152	p.Asn642Tyr	missense variant	-	NC_000015.10:g.89645450T>A	TOPMed
rs751109478	p.Arg643Gly	missense variant	-	NC_000015.10:g.89645447T>C	ExAC,gnomAD
rs1282769058	p.Arg643Ser	missense variant	-	NC_000015.10:g.89645445C>A	gnomAD
rs763632146	p.Ser645Asn	missense variant	-	NC_000015.10:g.89645440C>T	ExAC,TOPMed,gnomAD
rs372447563	p.Ser645Gly	missense variant	-	NC_000015.10:g.89645441T>C	ESP
rs757997374	p.Ser648Cys	missense variant	-	NC_000015.10:g.89645432T>A	ExAC,gnomAD
rs1333457872	p.Gln649Ter	stop gained	-	NC_000015.10:g.89645429G>A	gnomAD
rs1464082590	p.Gln649Arg	missense variant	-	NC_000015.10:g.89645428T>C	gnomAD
rs1399497050	p.Arg650Lys	missense variant	-	NC_000015.10:g.89645425C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Arg650Met	missense variant	-	NC_000015.10:g.89645425C>A	NCI-TCGA
rs368611732	p.Ala651Val	missense variant	-	NC_000015.10:g.89645422G>A	ESP,ExAC,TOPMed,gnomAD
rs1411427676	p.Gly652Ala	missense variant	-	NC_000015.10:g.89645419C>G	gnomAD
rs1411427676	p.Gly652Glu	missense variant	-	NC_000015.10:g.89645419C>T	gnomAD
rs776343307	p.Ala653Val	missense variant	-	NC_000015.10:g.89645416G>A	ExAC,TOPMed,gnomAD
rs759348347	p.Ala653Thr	missense variant	-	NC_000015.10:g.89645417C>T	ExAC,gnomAD
RCV000180716	p.Ala653Val	missense variant	-	NC_000015.10:g.89645416G>A	ClinVar
rs542994181	p.Arg654His	missense variant	-	NC_000015.10:g.89645413C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs370083276	p.Arg654Cys	missense variant	-	NC_000015.10:g.89645414G>A	ESP,ExAC,TOPMed,gnomAD
rs773135230	p.Pro655Leu	missense variant	-	NC_000015.10:g.89645410G>A	ExAC,TOPMed,gnomAD
rs773135230	p.Pro655Arg	missense variant	-	NC_000015.10:g.89645410G>C	ExAC,TOPMed,gnomAD
rs367617135	p.Ser657Thr	missense variant	-	NC_000015.10:g.89645404C>G	ESP,TOPMed,gnomAD
rs367617135	p.Ser657Asn	missense variant	-	NC_000015.10:g.89645404C>T	ESP,TOPMed,gnomAD
rs768662526	p.Ser657Gly	missense variant	-	NC_000015.10:g.89645405T>C	ExAC,gnomAD
rs749391087	p.Glu660Asp	missense variant	-	NC_000015.10:g.89645394C>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg661Lys	missense variant	-	NC_000015.10:g.89645392C>T	NCI-TCGA
rs1383761644	p.Lys662Glu	missense variant	-	NC_000015.10:g.89645390T>C	TOPMed
rs1031213392	p.Lys662Asn	missense variant	-	NC_000015.10:g.89645388C>A	TOPMed
rs1412180728	p.Gly663Ser	missense variant	-	NC_000015.10:g.89645387C>T	TOPMed
rs775649265	p.Gly663Asp	missense variant	-	NC_000015.10:g.89645386C>T	ExAC,gnomAD
rs1311685318	p.Leu666Ile	missense variant	-	NC_000015.10:g.89645378G>T	gnomAD
rs1354425756	p.Cys667Tyr	missense variant	-	NC_000015.10:g.89645374C>T	TOPMed
rs1376314543	p.Glu669Asp	missense variant	-	NC_000015.10:g.89645367C>G	gnomAD
rs781476519	p.Glu670Asp	missense variant	-	NC_000015.10:g.89645364C>G	ExAC,TOPMed,gnomAD
rs370604741	p.Leu671Val	missense variant	-	NC_000015.10:g.89645363A>C	ESP,ExAC,TOPMed,gnomAD
rs575882014	p.Asp672His	missense variant	-	NC_000015.10:g.89645360C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs778447926	p.Ala673Thr	missense variant	-	NC_000015.10:g.89645357C>T	ExAC,TOPMed,gnomAD
rs1401027354	p.Pro676Ser	missense variant	-	NC_000015.10:g.89645348G>A	gnomAD
rs757944322	p.Arg679Thr	missense variant	-	NC_000015.10:g.89645338C>G	ExAC,gnomAD
NCI-TCGA novel	p.Ala680Ser	missense variant	-	NC_000015.10:g.89645336C>A	NCI-TCGA
rs138736028	p.Arg687Ter	stop gained	-	NC_000015.10:g.89645145G>A	ESP,ExAC,TOPMed,gnomAD
rs200123657	p.Arg687Gln	missense variant	-	NC_000015.10:g.89645144C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs200123657	p.Arg687Leu	missense variant	-	NC_000015.10:g.89645144C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs138736028	p.Arg687Gly	missense variant	-	NC_000015.10:g.89645145G>C	ESP,ExAC,TOPMed,gnomAD
rs1466606411	p.Val688Ala	missense variant	-	NC_000015.10:g.89645141A>G	gnomAD
rs776675588	p.Ala690Val	missense variant	-	NC_000015.10:g.89645135G>A	ExAC,gnomAD
rs536188566	p.Arg691Cys	missense variant	-	NC_000015.10:g.89645133G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs377712806	p.Arg691His	missense variant	-	NC_000015.10:g.89645132C>T	ESP,ExAC,TOPMed,gnomAD
rs565633539	p.Gln692Glu	missense variant	-	NC_000015.10:g.89645130G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs565633539	p.Gln692Lys	missense variant	-	NC_000015.10:g.89645130G>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000353617	p.Gln692Glu	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89645130G>C	ClinVar
rs550326630	p.Val693Phe	missense variant	-	NC_000015.10:g.89645127C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs550326630	p.Val693Ile	missense variant	-	NC_000015.10:g.89645127C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000333886	p.Val693Phe	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89645127C>A	ClinVar
rs779543411	p.Pro695Ala	missense variant	-	NC_000015.10:g.89645121G>C	ExAC,TOPMed,gnomAD
rs779543411	p.Pro695Thr	missense variant	-	NC_000015.10:g.89645121G>T	ExAC,TOPMed,gnomAD
rs571373108	p.Pro695Leu	missense variant	-	NC_000015.10:g.89645120G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Pro695LeuPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.89645120G>-	NCI-TCGA
rs779543411	p.Pro695Ser	missense variant	-	NC_000015.10:g.89645121G>A	ExAC,TOPMed,gnomAD
rs969714062	p.Ala698Thr	missense variant	-	NC_000015.10:g.89645112C>T	TOPMed
rs1217901267	p.Ser699Leu	missense variant	-	NC_000015.10:g.89645108G>A	gnomAD
rs750206767	p.Glu700Asp	missense variant	-	NC_000015.10:g.89645104C>G	ExAC,gnomAD
RCV000323940	p.Arg702Gln	missense variant	-	NC_000015.10:g.89645099C>T	ClinVar
rs149078926	p.Arg702Gln	missense variant	-	NC_000015.10:g.89645099C>T	ESP,ExAC,TOPMed,gnomAD
RCV000764004	p.Arg702Gln	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89645099C>T	ClinVar
rs781032745	p.Arg702Trp	missense variant	-	NC_000015.10:g.89645100G>A	ExAC,TOPMed,gnomAD
rs1298263995	p.Leu703Val	missense variant	-	NC_000015.10:g.89645097G>C	gnomAD
rs751403084	p.Ala704Thr	missense variant	-	NC_000015.10:g.89645094C>T	ExAC,gnomAD
rs764121885	p.Gln705Arg	missense variant	-	NC_000015.10:g.89645090T>C	ExAC,gnomAD
rs764121885	p.Gln705Pro	missense variant	-	NC_000015.10:g.89645090T>G	ExAC,gnomAD
rs1403125207	p.Gln705Ter	stop gained	-	NC_000015.10:g.89645091G>A	gnomAD
rs373361316	p.Ala706Ser	missense variant	-	NC_000015.10:g.89645088C>A	ESP,ExAC,TOPMed,gnomAD
rs766692566	p.Gln708His	missense variant	-	NC_000015.10:g.89645080C>A	ExAC,gnomAD
rs1422293026	p.Ile710Met	missense variant	-	NC_000015.10:g.89645074G>C	gnomAD
rs368873919	p.Arg711Gln	missense variant	-	NC_000015.10:g.89645072C>T	ESP,ExAC,TOPMed,gnomAD
rs1255667027	p.Arg711Trp	missense variant	-	NC_000015.10:g.89645073G>A	TOPMed,gnomAD
rs368873919	p.Arg711Pro	missense variant	-	NC_000015.10:g.89645072C>G	ESP,ExAC,TOPMed,gnomAD
RCV000638553	p.Arg711Trp	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89645073G>A	ClinVar
rs1197995463	p.Ala714Val	missense variant	-	NC_000015.10:g.89645063G>A	gnomAD
rs1236405663	p.Ala714Thr	missense variant	-	NC_000015.10:g.89645064C>T	gnomAD
rs774683334	p.Ile715Val	missense variant	-	NC_000015.10:g.89645061T>C	ExAC,TOPMed,gnomAD
rs769247904	p.Ile715Met	missense variant	-	NC_000015.10:g.89645059G>C	ExAC,gnomAD
rs775039962	p.Ile717Phe	missense variant	-	NC_000015.10:g.89645055T>A	ExAC,TOPMed,gnomAD
rs372882880	p.Arg718Cys	missense variant	-	NC_000015.10:g.89645052G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs138021610	p.Arg718Leu	missense variant	-	NC_000015.10:g.89645051C>A	ESP,ExAC,TOPMed,gnomAD
rs138021610	p.Arg718Pro	missense variant	-	NC_000015.10:g.89645051C>G	ESP,ExAC,TOPMed,gnomAD
rs138021610	p.Arg718His	missense variant	-	NC_000015.10:g.89645051C>T	ESP,ExAC,TOPMed,gnomAD
rs777546530	p.Met719Thr	missense variant	-	NC_000015.10:g.89645048A>G	ExAC,gnomAD
rs746859616	p.Met719Val	missense variant	-	NC_000015.10:g.89645049T>C	ExAC,gnomAD
rs1446784669	p.Glu721Ter	stop gained	-	NC_000015.10:g.89645043C>A	gnomAD
RCV000610998	p.Glu722Ter	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89645040C>A	ClinVar
rs1555424505	p.Glu722Ter	stop gained	-	NC_000015.10:g.89645040C>A	-
rs758416079	p.Glu722Gly	missense variant	-	NC_000015.10:g.89645039T>C	ExAC,gnomAD
rs150227461	p.Gly725Ser	missense variant	-	NC_000015.10:g.89645031C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs543188623	p.Glu726Gln	missense variant	-	NC_000015.10:g.89645028C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs543188623	p.Glu726Lys	missense variant	-	NC_000015.10:g.89645028C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1441761364	p.Val728Ile	missense variant	-	NC_000015.10:g.89645022C>T	gnomAD
rs763584371	p.Arg729Cys	missense variant	-	NC_000015.10:g.89645019G>A	ExAC,TOPMed,gnomAD
rs142420701	p.Arg729His	missense variant	-	NC_000015.10:g.89645018C>T	ESP,ExAC,TOPMed,gnomAD
rs1207873989	p.Thr730Ser	missense variant	-	NC_000015.10:g.89645016T>A	TOPMed,gnomAD
rs1207873989	p.Thr730Pro	missense variant	-	NC_000015.10:g.89645016T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Gly731Arg	missense variant	-	NC_000015.10:g.89645013C>T	NCI-TCGA
rs747991488	p.Lys732Asn	missense variant	-	NC_000015.10:g.89642401C>G	ExAC,TOPMed
NCI-TCGA novel	p.Gln735Arg	missense variant	-	NC_000015.10:g.89642393T>C	NCI-TCGA
rs943930875	p.Arg739His	missense variant	-	NC_000015.10:g.89642381C>T	TOPMed,gnomAD
rs768766154	p.Arg739Cys	missense variant	-	NC_000015.10:g.89642382G>A	ExAC,gnomAD
RCV000340146	p.Gln740Arg	missense variant	-	NC_000015.10:g.89642378T>C	ClinVar
rs147679100	p.Gln740Arg	missense variant	-	NC_000015.10:g.89642378T>C	ESP,ExAC,TOPMed,gnomAD
rs201789358	p.Gln740Glu	missense variant	-	NC_000015.10:g.89642379G>C	1000Genomes,ExAC,gnomAD
RCV000801626	p.Gln740Arg	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642378T>C	ClinVar
rs751746707	p.His741Gln	missense variant	-	NC_000015.10:g.89642374G>C	ExAC,gnomAD
rs1440715352	p.Ser742Asn	missense variant	-	NC_000015.10:g.89642372C>T	NCI-TCGA Cosmic
rs1440715352	p.Ser742Asn	missense variant	-	NC_000015.10:g.89642372C>T	TOPMed
RCV000490132	p.Gln743Lys	missense variant	-	NC_000015.10:g.89642370G>T	ClinVar
rs145324453	p.Gln743Lys	missense variant	-	NC_000015.10:g.89642370G>T	ESP,ExAC,TOPMed,gnomAD
rs1379825883	p.Gln743His	missense variant	-	NC_000015.10:g.89642368C>G	TOPMed
rs758730416	p.Arg744Leu	missense variant	-	NC_000015.10:g.89642366C>A	NCI-TCGA
rs1269915713	p.Arg744Cys	missense variant	-	NC_000015.10:g.89642367G>A	gnomAD
rs758730416	p.Arg744His	missense variant	-	NC_000015.10:g.89642366C>T	ExAC,TOPMed,gnomAD
rs758730416	p.Arg744Leu	missense variant	-	NC_000015.10:g.89642366C>A	ExAC,TOPMed,gnomAD
rs919662081	p.Ile745Phe	missense variant	-	NC_000015.10:g.89642364T>A	TOPMed,gnomAD
RCV000724188	p.Arg746Trp	missense variant	-	NC_000015.10:g.89642361G>A	ClinVar
RCV000725501	p.Arg746Gln	missense variant	-	NC_000015.10:g.89642360C>T	ClinVar
rs141867330	p.Arg746Trp	missense variant	-	NC_000015.10:g.89642361G>A	NCI-TCGA
rs141867330	p.Arg746Trp	missense variant	-	NC_000015.10:g.89642361G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs151317163	p.Arg746Gln	missense variant	-	NC_000015.10:g.89642360C>T	ESP,ExAC,TOPMed,gnomAD
rs151317163	p.Arg746Pro	missense variant	-	NC_000015.10:g.89642360C>G	ESP,ExAC,TOPMed,gnomAD
rs141867330	p.Arg746Gly	missense variant	-	NC_000015.10:g.89642361G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs760121687	p.Glu747Gln	missense variant	-	NC_000015.10:g.89642358C>G	ExAC,TOPMed,gnomAD
rs1163621253	p.Glu749Gln	missense variant	-	NC_000015.10:g.89642352C>G	gnomAD
rs761681469	p.Gln754Arg	missense variant	-	NC_000015.10:g.89642336T>C	ExAC,gnomAD
rs1186278547	p.Val755Met	missense variant	-	NC_000015.10:g.89642334C>T	TOPMed,gnomAD
rs1186278547	p.Val755Leu	missense variant	-	NC_000015.10:g.89642334C>A	TOPMed,gnomAD
rs774348571	p.Val755Ala	missense variant	-	NC_000015.10:g.89642333A>G	ExAC,gnomAD
rs749173316	p.Arg756Pro	missense variant	-	NC_000015.10:g.89642330C>G	ExAC,TOPMed,gnomAD
rs749173316	p.Arg756Gln	missense variant	-	NC_000015.10:g.89642330C>T	ExAC,TOPMed,gnomAD
rs570853380	p.Arg756Trp	missense variant	-	NC_000015.10:g.89642331G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1272826943	p.Ala757Val	missense variant	-	NC_000015.10:g.89642327G>A	gnomAD
rs527766106	p.Glu758Gln	missense variant	-	NC_000015.10:g.89642325C>G	1000Genomes,ExAC,gnomAD
rs527766106	p.Glu758Lys	missense variant	-	NC_000015.10:g.89642325C>T	1000Genomes,ExAC,gnomAD
VAR_066453	p.Leu759Pro	Missense	-	-	UniProt
rs778032299	p.Ser760Arg	missense variant	-	NC_000015.10:g.89642317A>T	ExAC,gnomAD
rs758677022	p.Glu761Asp	missense variant	-	NC_000015.10:g.89642314T>A	ExAC,gnomAD
rs753052634	p.Gly762Arg	missense variant	-	NC_000015.10:g.89642313C>G	ExAC,gnomAD
RCV000489800	p.Gly762Arg	missense variant	-	NC_000015.10:g.89642313C>G	ClinVar
rs1324022945	p.Gln763Ter	stop gained	-	NC_000015.10:g.89642310G>A	gnomAD
rs1392281954	p.Arg764Ser	missense variant	-	NC_000015.10:g.89642305C>G	TOPMed
rs1020488870	p.Arg764Lys	missense variant	-	NC_000015.10:g.89642306C>T	TOPMed,gnomAD
rs556273497	p.Gln765His	missense variant	-	NC_000015.10:g.89642302C>G	gnomAD
rs755346269	p.Gln765Arg	missense variant	-	NC_000015.10:g.89642303T>C	ExAC,gnomAD
rs371196179	p.Leu766Gln	missense variant	-	NC_000015.10:g.89642300A>T	ESP,ExAC,TOPMed,gnomAD
rs1439862748	p.Leu766Met	missense variant	-	NC_000015.10:g.89642301G>T	gnomAD
rs201091656	p.Arg767Trp	missense variant	-	NC_000015.10:g.89642298G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs760206389	p.Arg767Gln	missense variant	-	NC_000015.10:g.89642297C>T	ExAC,TOPMed,gnomAD
rs749953290	p.Glu768Asp	missense variant	-	NC_000015.10:g.89642293C>G	ExAC,TOPMed,gnomAD
rs767268207	p.Leu769Phe	missense variant	-	NC_000015.10:g.89642292G>A	ExAC
rs1222820551	p.Leu769Arg	missense variant	-	NC_000015.10:g.89642291A>C	gnomAD
rs148779858	p.Glu770Lys	missense variant	-	NC_000015.10:g.89642289C>T	ESP,ExAC,TOPMed,gnomAD
rs774153706	p.Gly771Ser	missense variant	-	NC_000015.10:g.89642286C>T	ExAC,gnomAD
NCI-TCGA novel	p.Lys772Asn	missense variant	-	NC_000015.10:g.89642281C>A	NCI-TCGA
RCV000365138	p.Leu774Pro	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642276A>G	ClinVar
rs762864604	p.Leu774Pro	missense variant	-	NC_000015.10:g.89642276A>G	ExAC,TOPMed,gnomAD
rs762864604	p.Leu774His	missense variant	-	NC_000015.10:g.89642276A>T	ExAC,TOPMed,gnomAD
rs1249809748	p.Asp776Tyr	missense variant	-	NC_000015.10:g.89642271C>A	TOPMed
rs1249809748	p.Asp776His	missense variant	-	NC_000015.10:g.89642271C>G	TOPMed
rs1435993407	p.Asp776Gly	missense variant	-	NC_000015.10:g.89642270T>C	TOPMed
rs769667870	p.Asp776Glu	missense variant	-	NC_000015.10:g.89642269A>C	ExAC,TOPMed,gnomAD
rs765158952	p.Gly778Ser	missense variant	-	NC_000015.10:g.89642265C>T	gnomAD
rs765158952	p.Gly778Arg	missense variant	-	NC_000015.10:g.89642265C>G	gnomAD
rs116823950	p.Glu779Ter	stop gained	-	NC_000015.10:g.89642262C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000551731	p.Glu779Gln	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642262C>G	ClinVar
rs202089770	p.Glu779Asp	missense variant	-	NC_000015.10:g.89642260C>G	ExAC,TOPMed,gnomAD
rs116823950	p.Glu779Gln	missense variant	-	NC_000015.10:g.89642262C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs116823950	p.Glu779Lys	missense variant	-	NC_000015.10:g.89642262C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs370339841	p.Arg780Gln	missense variant	-	NC_000015.10:g.89642258C>T	ESP,ExAC,TOPMed,gnomAD
rs370339841	p.Arg780Leu	missense variant	-	NC_000015.10:g.89642258C>A	ESP,ExAC,TOPMed,gnomAD
rs377300719	p.Arg780Trp	missense variant	-	NC_000015.10:g.89642259G>A	ESP,ExAC,TOPMed,gnomAD
RCV000342702	p.Ser781Pro	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642256A>G	ClinVar
rs1156356003	p.Ser781Phe	missense variant	-	NC_000015.10:g.89642255G>A	gnomAD
rs886051530	p.Ser781Thr	missense variant	-	NC_000015.10:g.89642256A>T	TOPMed
rs886051530	p.Ser781Pro	missense variant	-	NC_000015.10:g.89642256A>G	TOPMed
rs780592854	p.Arg782Trp	missense variant	-	NC_000015.10:g.89642253G>A	NCI-TCGA,NCI-TCGA Cosmic
rs780592854	p.Arg782Trp	missense variant	-	NC_000015.10:g.89642253G>A	ExAC,TOPMed,gnomAD
rs780592854	p.Arg782Gly	missense variant	-	NC_000015.10:g.89642253G>C	ExAC,TOPMed,gnomAD
rs749948143	p.Arg782Gln	missense variant	-	NC_000015.10:g.89642252C>T	ExAC,TOPMed,gnomAD
rs749948143	p.Arg782Pro	missense variant	-	NC_000015.10:g.89642252C>G	ExAC,TOPMed,gnomAD
rs749948143	p.Arg782Gln	missense variant	-	NC_000015.10:g.89642252C>T	NCI-TCGA,NCI-TCGA Cosmic
rs1479254747	p.Leu783Ile	missense variant	-	NC_000015.10:g.89642250G>T	gnomAD
rs1308885017	p.Gln784Ter	stop gained	-	NC_000015.10:g.89642247G>A	TOPMed
RCV000522725	p.Glu785Val	missense variant	-	NC_000015.10:g.89642243T>A	ClinVar
RCV000764003	p.Glu785Val	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642243T>A	ClinVar
rs529209853	p.Glu785Asp	missense variant	-	NC_000015.10:g.89642242C>A	1000Genomes,ExAC,gnomAD
rs759424882	p.Glu785Val	missense variant	-	NC_000015.10:g.89642243T>A	gnomAD
rs529209853	p.Glu785Asp	missense variant	-	NC_000015.10:g.89642242C>G	1000Genomes,ExAC,gnomAD
rs775204546	p.Arg787His	missense variant	-	NC_000015.10:g.89642237C>T	ExAC,TOPMed,gnomAD
rs762787424	p.Arg787Cys	missense variant	-	NC_000015.10:g.89642238G>A	ExAC,TOPMed,gnomAD
RCV000285504	p.Arg788Ser	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89642233C>G	ClinVar
rs117123311	p.Arg788Ser	missense variant	-	NC_000015.10:g.89642233C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs929788182	p.Val790Phe	missense variant	-	NC_000015.10:g.89642229C>A	TOPMed,gnomAD
rs759322369	p.Val790Gly	missense variant	-	NC_000015.10:g.89642228A>C	ExAC,gnomAD
rs1429326502	p.Ala791Gly	missense variant	-	NC_000015.10:g.89642225G>C	TOPMed
rs748254377	p.Ala791Thr	missense variant	-	NC_000015.10:g.89642226C>T	ExAC,TOPMed,gnomAD
rs139150855	p.Ala792Thr	missense variant	-	NC_000015.10:g.89642223C>T	ESP,ExAC,TOPMed,gnomAD
rs375985448	p.Ala792Glu	missense variant	-	NC_000015.10:g.89642222G>T	ESP,ExAC,TOPMed,gnomAD
rs375985448	p.Ala792Val	missense variant	-	NC_000015.10:g.89642222G>A	ESP,ExAC,TOPMed,gnomAD
rs375985448	p.Ala792Val	missense variant	-	NC_000015.10:g.89642222G>A	NCI-TCGA
rs1177602980	p.Ala793Val	missense variant	-	NC_000015.10:g.89642219G>A	gnomAD
rs780353194	p.Gln794His	missense variant	-	NC_000015.10:g.89642215C>G	ExAC,gnomAD
rs756506659	p.Ser795Ile	missense variant	-	NC_000015.10:g.89642213C>A	ExAC,gnomAD
rs746304930	p.Gln796Arg	missense variant	-	NC_000015.10:g.89642210T>C	ExAC,TOPMed,gnomAD
rs781770350	p.Gln796His	missense variant	-	NC_000015.10:g.89642209C>A	ExAC,gnomAD
rs746304930	p.Gln796Leu	missense variant	-	NC_000015.10:g.89642210T>A	ExAC,TOPMed,gnomAD
rs1265734614	p.Val797Leu	missense variant	-	NC_000015.10:g.89642208C>G	gnomAD
rs201612675	p.Gln798Arg	missense variant	-	NC_000015.10:g.89642204T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs775535847	p.Val799Leu	missense variant	-	NC_000015.10:g.89633883C>G	ExAC,TOPMed,gnomAD
rs775535847	p.Val799Leu	missense variant	-	NC_000015.10:g.89633883C>A	ExAC,TOPMed,gnomAD
rs770095161	p.Leu800Pro	missense variant	-	NC_000015.10:g.89633879A>G	ExAC,gnomAD
rs1248291268	p.Lys803Asn	missense variant	-	NC_000015.10:g.89633869C>A	gnomAD
rs747460072	p.Lys804Gln	missense variant	-	NC_000015.10:g.89633868T>G	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys804Thr	missense variant	-	NC_000015.10:g.89633867T>G	NCI-TCGA
rs146186236	p.Ala806Gly	missense variant	-	NC_000015.10:g.89633861G>C	ESP,ExAC,gnomAD
rs146186236	p.Ala806Val	missense variant	-	NC_000015.10:g.89633861G>A	ESP,ExAC,gnomAD
RCV000280850	p.Thr807Met	missense variant	-	NC_000015.10:g.89633858G>A	ClinVar
RCV000527732	p.Thr807Lys	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633858G>T	ClinVar
RCV000764002	p.Thr807Met	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633858G>A	ClinVar
rs757175418	p.Thr807Met	missense variant	-	NC_000015.10:g.89633858G>A	ExAC,TOPMed,gnomAD
rs771441248	p.Thr807Ala	missense variant	-	NC_000015.10:g.89633859T>C	ExAC,gnomAD
rs757175418	p.Thr807Lys	missense variant	-	NC_000015.10:g.89633858G>T	ExAC,TOPMed,gnomAD
COSM3817023	p.Glu808Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89633856C>T	NCI-TCGA Cosmic
rs758378987	p.Arg809Leu	missense variant	-	NC_000015.10:g.89633852C>A	ExAC,TOPMed,gnomAD
rs758378987	p.Arg809Pro	missense variant	-	NC_000015.10:g.89633852C>G	ExAC,TOPMed,gnomAD
rs367734857	p.Arg809Trp	missense variant	-	NC_000015.10:g.89633853G>A	ESP,ExAC,TOPMed,gnomAD
RCV000625891	p.Arg809Trp	missense variant	Hydrolethalus syndrome 2 (HLS2)	NC_000015.10:g.89633853G>A	ClinVar
rs758378987	p.Arg809Gln	missense variant	-	NC_000015.10:g.89633852C>T	ExAC,TOPMed,gnomAD
RCV000731081	p.Arg809Gln	missense variant	-	NC_000015.10:g.89633852C>T	ClinVar
RCV000390787	p.Arg809Gln	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633852C>T	ClinVar
RCV000764001	p.Arg809Trp	missense variant	Hydrolethalus syndrome 2 (HLS2)	NC_000015.10:g.89633853G>A	ClinVar
rs1391914901	p.Val811Leu	missense variant	-	NC_000015.10:g.89633847C>A	gnomAD
rs752872113	p.Val811Gly	missense variant	-	NC_000015.10:g.89633846A>C	ExAC,gnomAD
rs752872113	p.Val811Ala	missense variant	-	NC_000015.10:g.89633846A>G	ExAC,gnomAD
rs759765964	p.Ser812Ter	stop gained	-	NC_000015.10:g.89633843G>T	ExAC,gnomAD
rs759765964	p.Ser812Leu	missense variant	-	NC_000015.10:g.89633843G>A	ExAC,gnomAD
rs765371328	p.Ser812Ala	missense variant	-	NC_000015.10:g.89633844A>C	ExAC,gnomAD
COSM966361	p.Ser812Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89633844A>G	NCI-TCGA Cosmic
rs575297087	p.Leu813Val	missense variant	-	NC_000015.10:g.89633841G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs575297087	p.Leu813Met	missense variant	-	NC_000015.10:g.89633841G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs139642540	p.Ser814Ter	stop gained	-	NC_000015.10:g.89633837G>T	ESP,ExAC,TOPMed,gnomAD
rs139642540	p.Ser814Leu	missense variant	-	NC_000015.10:g.89633837G>A	ESP,ExAC,TOPMed,gnomAD
rs1421629514	p.Ser814Ala	missense variant	-	NC_000015.10:g.89633838A>C	gnomAD
rs1269284205	p.Gln816His	missense variant	-	NC_000015.10:g.89633830C>G	gnomAD
rs772680332	p.Ser817Asn	missense variant	-	NC_000015.10:g.89633828C>T	ExAC,gnomAD
rs200055380	p.Ser817Arg	missense variant	-	NC_000015.10:g.89633827A>T	1000Genomes,ExAC,TOPMed,gnomAD
rs374111371	p.Lys819Thr	missense variant	-	NC_000015.10:g.89633822T>G	ESP,ExAC,TOPMed,gnomAD
RCV000594372	p.Lys819Thr	missense variant	-	NC_000015.10:g.89633822T>G	ClinVar
rs374638470	p.Arg820Gln	missense variant	-	NC_000015.10:g.89633819C>T	ExAC,TOPMed,gnomAD
rs150595682	p.Arg820Gly	missense variant	-	NC_000015.10:g.89633820G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150595682	p.Arg820Ter	stop gained	-	NC_000015.10:g.89633820G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs374638470	p.Arg820Pro	missense variant	-	NC_000015.10:g.89633819C>G	ExAC,TOPMed,gnomAD
rs780970705	p.Gln822His	missense variant	-	NC_000015.10:g.89633812C>G	ExAC,TOPMed,gnomAD
rs745705713	p.Gln822Glu	missense variant	-	NC_000015.10:g.89633814G>C	ExAC,gnomAD
rs757284705	p.Glu823Gly	missense variant	-	NC_000015.10:g.89633810T>C	ExAC,gnomAD
rs1403464053	p.Glu823Asp	missense variant	-	NC_000015.10:g.89633809C>G	TOPMed,gnomAD
rs751454262	p.Leu824Val	missense variant	-	NC_000015.10:g.89633808G>C	ExAC,gnomAD
rs558861570	p.Glu825Ter	stop gained	-	NC_000015.10:g.89633805C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs558861570	p.Glu825Gln	missense variant	-	NC_000015.10:g.89633805C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs558861570	p.Glu825Lys	missense variant	-	NC_000015.10:g.89633805C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs139711238	p.Arg826Trp	missense variant	-	NC_000015.10:g.89633802G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148044329	p.Arg826Gln	missense variant	-	NC_000015.10:g.89633801C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs148044329	p.Arg826Leu	missense variant	-	NC_000015.10:g.89633801C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs987512190	p.Asn827Ser	missense variant	-	NC_000015.10:g.89633798T>C	TOPMed,gnomAD
RCV000764000	p.Val828Met	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633796C>T	ClinVar
rs143915145	p.Val828Met	missense variant	-	NC_000015.10:g.89633796C>T	ESP,ExAC,TOPMed,gnomAD
RCV000431045	p.Val828Met	missense variant	-	NC_000015.10:g.89633796C>T	ClinVar
rs768110060	p.Gln829Pro	missense variant	-	NC_000015.10:g.89633792T>G	ExAC,TOPMed,gnomAD
rs1200179301	p.Gln829Glu	missense variant	-	NC_000015.10:g.89633793G>C	TOPMed
rs1480004697	p.Gln829His	missense variant	-	NC_000015.10:g.89633791C>A	gnomAD
rs748828629	p.Leu830Ile	missense variant	-	NC_000015.10:g.89633790G>T	ExAC,gnomAD
rs748828629	p.Leu830Phe	missense variant	-	NC_000015.10:g.89633790G>A	ExAC,gnomAD
rs775093018	p.Met831Val	missense variant	-	NC_000015.10:g.89633787T>C	ExAC,gnomAD
rs1444851373	p.Met831Thr	missense variant	-	NC_000015.10:g.89633786A>G	gnomAD
NCI-TCGA novel	p.Met831Arg	missense variant	-	NC_000015.10:g.89633786A>C	NCI-TCGA
rs745638889	p.Arg832Trp	missense variant	-	NC_000015.10:g.89633784G>A	ExAC,TOPMed,gnomAD
rs371841682	p.Arg832Gln	missense variant	-	NC_000015.10:g.89633783C>T	ESP,ExAC,TOPMed,gnomAD
rs777880634	p.Gln833Arg	missense variant	-	NC_000015.10:g.89633780T>C	ExAC,TOPMed,gnomAD
rs746915003	p.Gln833Glu	missense variant	-	NC_000015.10:g.89633781G>C	ExAC,gnomAD
rs1323293002	p.Gln834Ter	stop gained	-	NC_000015.10:g.89633778G>A	gnomAD
RCV000535641	p.Gln834Arg	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633777T>C	ClinVar
rs138354681	p.Gln834Arg	missense variant	-	NC_000015.10:g.89633777T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000760754	p.Gln835Ter	nonsense	-	NC_000015.10:g.89633775G>A	ClinVar
RCV000492941	p.Gln837Ter	nonsense	-	NC_000015.10:g.89633769G>A	ClinVar
rs1131691958	p.Gln837Glu	missense variant	-	NC_000015.10:g.89633769G>C	gnomAD
rs1131691958	p.Gln837Ter	stop gained	-	NC_000015.10:g.89633769G>A	gnomAD
NCI-TCGA novel	p.Gln839Arg	missense variant	-	NC_000015.10:g.89633762T>C	NCI-TCGA
rs754017849	p.Arg840Trp	missense variant	-	NC_000015.10:g.89633760T>A	ExAC,gnomAD
rs750616880	p.Arg841Gln	missense variant	-	NC_000015.10:g.89633756C>T	ExAC,TOPMed,gnomAD
rs147040400	p.Arg841Trp	missense variant	-	NC_000015.10:g.89633757G>A	ESP,ExAC,TOPMed,gnomAD
rs767869939	p.Leu842Val	missense variant	-	NC_000015.10:g.89633754G>C	ExAC,gnomAD
rs370901791	p.Arg843His	missense variant	-	NC_000015.10:g.89633750C>T	ESP,ExAC,TOPMed,gnomAD
rs374366786	p.Arg843Cys	missense variant	-	NC_000015.10:g.89633751G>A	ESP,ExAC,TOPMed,gnomAD
rs760348444	p.Glu844Lys	missense variant	-	NC_000015.10:g.89633748C>T	ExAC,gnomAD
rs760348444	p.Glu844Gln	missense variant	-	NC_000015.10:g.89633748C>G	ExAC,gnomAD
rs759168186	p.Glu845Lys	missense variant	-	NC_000015.10:g.89633745C>T	ExAC,gnomAD
rs1240669714	p.Thr846Ala	missense variant	-	NC_000015.10:g.89633742T>C	gnomAD
rs151034440	p.Thr846Lys	missense variant	-	NC_000015.10:g.89633741G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs151034440	p.Thr846Met	missense variant	-	NC_000015.10:g.89633741G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs141514601	p.Arg850Leu	missense variant	-	NC_000015.10:g.89633729C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141514601	p.Arg850Gln	missense variant	-	NC_000015.10:g.89633729C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs200210231	p.Arg850Trp	missense variant	-	NC_000015.10:g.89633730G>A	ESP,ExAC,TOPMed,gnomAD
rs201341169	p.Arg851Cys	missense variant	-	NC_000015.10:g.89633727G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs750613716	p.Arg851His	missense variant	-	NC_000015.10:g.89633726C>T	ExAC,TOPMed,gnomAD
rs1333170956	p.Glu853Lys	missense variant	-	NC_000015.10:g.89633721C>T	gnomAD
rs547299679	p.Ala854Ser	missense variant	-	NC_000015.10:g.89633718C>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Glu855Ter	stop gained	-	NC_000015.10:g.89633715C>A	NCI-TCGA
rs751970641	p.Met856Ile	missense variant	-	NC_000015.10:g.89633710C>T	ExAC,gnomAD
rs764572782	p.Ser857Arg	missense variant	-	NC_000015.10:g.89633707G>C	ExAC,TOPMed
rs145701524	p.Arg859Trp	missense variant	-	NC_000015.10:g.89633703G>A	ESP,ExAC,TOPMed,gnomAD
rs753215849	p.Arg859Gln	missense variant	-	NC_000015.10:g.89633702C>T	ExAC,TOPMed,gnomAD
rs145701524	p.Arg859Gly	missense variant	-	NC_000015.10:g.89633703G>C	ESP,ExAC,TOPMed,gnomAD
rs1043221006	p.His861Arg	missense variant	-	NC_000015.10:g.89633696T>C	TOPMed,gnomAD
rs202057334	p.Arg862His	missense variant	-	NC_000015.10:g.89633693C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs758999185	p.Arg862Cys	missense variant	-	NC_000015.10:g.89633694G>A	ExAC,TOPMed,gnomAD
RCV000343628	p.Arg862His	missense variant	-	NC_000015.10:g.89633693C>T	ClinVar
rs767054471	p.Val863Phe	missense variant	-	NC_000015.10:g.89633691C>A	ExAC,TOPMed,gnomAD
rs767054471	p.Val863Ile	missense variant	-	NC_000015.10:g.89633691C>T	ExAC,TOPMed,gnomAD
rs772000394	p.Lys864Glu	missense variant	-	NC_000015.10:g.89633688T>C	ExAC,TOPMed,gnomAD
rs1313079618	p.Lys864Arg	missense variant	-	NC_000015.10:g.89633687T>C	TOPMed,gnomAD
rs1213704961	p.Glu865Lys	missense variant	-	NC_000015.10:g.89633266C>T	gnomAD
RCV000779177	p.Glu867Ter	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633260C>A	ClinVar
rs1328669185	p.Glu867Lys	missense variant	-	NC_000015.10:g.89633260C>T	TOPMed
rs771049459	p.His870Gln	missense variant	-	NC_000015.10:g.89633249A>T	ExAC,TOPMed,gnomAD
rs866844676	p.His870Tyr	missense variant	-	NC_000015.10:g.89633251G>A	gnomAD
rs866844676	p.His870Asn	missense variant	-	NC_000015.10:g.89633251G>T	gnomAD
rs530861601	p.His870Arg	missense variant	-	NC_000015.10:g.89633250T>C	1000Genomes,ExAC,gnomAD
rs144359873	p.Glu871Ter	stop gained	-	NC_000015.10:g.89633248C>A	ESP,ExAC,TOPMed,gnomAD
rs144359873	p.Glu871Lys	missense variant	-	NC_000015.10:g.89633248C>T	ESP,ExAC,TOPMed,gnomAD
COSM4696228	p.Lys875Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89633234C>A	NCI-TCGA Cosmic
rs376919553	p.Ile876Met	missense variant	-	NC_000015.10:g.89633231G>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys878Asn	missense variant	-	NC_000015.10:g.89633225C>A	NCI-TCGA
rs1471206637	p.Ile879Met	missense variant	-	NC_000015.10:g.89633222A>C	TOPMed,gnomAD
rs1341111375	p.Lys880Asn	missense variant	-	NC_000015.10:g.89633219C>A	TOPMed
rs372660203	p.Thr881Met	missense variant	-	NC_000015.10:g.89633217G>A	ESP,ExAC,TOPMed,gnomAD
rs372660203	p.Thr881Arg	missense variant	-	NC_000015.10:g.89633217G>C	ESP,ExAC,TOPMed,gnomAD
rs1429390462	p.Glu882Ter	stop gained	-	NC_000015.10:g.89633215C>A	gnomAD
rs765751072	p.Glu883Asp	missense variant	-	NC_000015.10:g.89633210C>A	ExAC,TOPMed,gnomAD
rs755711268	p.Ile884Phe	missense variant	-	NC_000015.10:g.89633209T>A	ExAC,gnomAD
RCV000638551	p.Ala885Val	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89633205G>A	ClinVar
rs139217034	p.Ala885Thr	missense variant	-	NC_000015.10:g.89633206C>T	ESP,ExAC,TOPMed,gnomAD
rs774073055	p.Ala885Glu	missense variant	-	NC_000015.10:g.89633205G>T	ExAC,TOPMed,gnomAD
rs774073055	p.Ala885Val	missense variant	-	NC_000015.10:g.89633205G>A	ExAC,TOPMed,gnomAD
rs1199012519	p.Ala886Ser	missense variant	-	NC_000015.10:g.89633203C>A	gnomAD
rs1308930729	p.Ala886Val	missense variant	-	NC_000015.10:g.89633202G>A	gnomAD
rs770875091	p.Arg889Lys	missense variant	-	NC_000015.10:g.89633193C>T	ExAC,gnomAD
rs1379272705	p.Arg889Ser	missense variant	-	NC_000015.10:g.89633192C>G	TOPMed,gnomAD
RCV000724190	p.Arg891Thr	missense variant	-	NC_000015.10:g.89633187C>G	ClinVar
rs143250090	p.Arg891Thr	missense variant	-	NC_000015.10:g.89633187C>G	ESP,ExAC,TOPMed,gnomAD
rs146368430	p.Arg892Cys	missense variant	-	NC_000015.10:g.89633185G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143866575	p.Arg892His	missense variant	-	NC_000015.10:g.89633184C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1356594136	p.Ser893Gly	missense variant	-	NC_000015.10:g.89633182T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Ser893Arg	missense variant	-	NC_000015.10:g.89633180A>T	NCI-TCGA
rs1168617390	p.Gly894Asp	missense variant	-	NC_000015.10:g.89633178C>T	gnomAD
rs1386011317	p.Ser895Thr	missense variant	-	NC_000015.10:g.89633175C>G	TOPMed,gnomAD
COSM3505297	p.Asn896Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89633171G>C	NCI-TCGA Cosmic
rs149548398	p.Gly897Ser	missense variant	-	NC_000015.10:g.89633170C>T	ESP,ExAC,TOPMed,gnomAD
rs149548398	p.Gly897Arg	missense variant	-	NC_000015.10:g.89633170C>G	ESP,ExAC,TOPMed,gnomAD
rs749711306	p.Gly897Ala	missense variant	-	NC_000015.10:g.89633169C>G	ExAC,gnomAD
NCI-TCGA novel	p.Gly897Asp	missense variant	-	NC_000015.10:g.89633169C>T	NCI-TCGA
rs927320562	p.Ser898Pro	missense variant	-	NC_000015.10:g.89633167A>G	TOPMed,gnomAD
rs139174072	p.Val899Leu	missense variant	-	NC_000015.10:g.89633164C>G	ESP,ExAC,TOPMed,gnomAD
rs750006883	p.Val900Ile	missense variant	-	NC_000015.10:g.89633161C>T	ExAC,TOPMed,gnomAD
rs750006883	p.Val900Leu	missense variant	-	NC_000015.10:g.89633161C>G	ExAC,TOPMed,gnomAD
rs780978317	p.Val900Ala	missense variant	-	NC_000015.10:g.89633160A>G	ExAC,gnomAD
rs780978317	p.Val900Gly	missense variant	-	NC_000015.10:g.89633160A>C	ExAC,gnomAD
rs777523681	p.Ser901Arg	missense variant	-	NC_000015.10:g.89633156G>C	gnomAD
rs777523681	p.Ser901Arg	missense variant	-	NC_000015.10:g.89633156G>T	gnomAD
NCI-TCGA novel	p.Ser901Asn	missense variant	-	NC_000015.10:g.89633157C>T	NCI-TCGA
rs1381354317	p.Glu903Ter	stop gained	-	NC_000015.10:g.89633152C>A	TOPMed,gnomAD
rs1381354317	p.Glu903Gln	missense variant	-	NC_000015.10:g.89633152C>G	TOPMed,gnomAD
rs1392418047	p.Gln904Ter	stop gained	-	NC_000015.10:g.89633149G>A	gnomAD
rs757037566	p.Gln904Leu	missense variant	-	NC_000015.10:g.89633148T>A	ExAC,gnomAD
rs753784742	p.Ile908Thr	missense variant	-	NC_000015.10:g.89632992A>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu909Gln	missense variant	-	NC_000015.10:g.89632990C>G	NCI-TCGA
rs1406527339	p.Glu910Lys	missense variant	-	NC_000015.10:g.89632987C>T	TOPMed,gnomAD
rs761986869	p.Gln911Pro	missense variant	-	NC_000015.10:g.89632983T>G	ExAC,gnomAD
rs764430327	p.Lys912Arg	missense variant	-	NC_000015.10:g.89632980T>C	ExAC,gnomAD
rs776064132	p.Lys913Arg	missense variant	-	NC_000015.10:g.89632977T>C	ExAC,TOPMed,gnomAD
rs763217993	p.Lys913Ter	stop gained	-	NC_000015.10:g.89632978T>A	ExAC,TOPMed,gnomAD
RCV000722437	p.Lys913Trp	missense variant	-	NC_000015.10:g.89632977_89632978delinsCA	ClinVar
rs746321431	p.Asp916Glu	missense variant	-	NC_000015.10:g.89632967G>C	ExAC,gnomAD
rs1229750755	p.Asp916Gly	missense variant	-	NC_000015.10:g.89632968T>C	gnomAD
rs777302046	p.Gln917His	missense variant	-	NC_000015.10:g.89632964C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu918Asp	missense variant	-	NC_000015.10:g.89632961C>G	NCI-TCGA
rs1197089621	p.Met919Ile	missense variant	-	NC_000015.10:g.89632958C>T	TOPMed
rs1265443801	p.Met919Thr	missense variant	-	NC_000015.10:g.89632959A>G	gnomAD
rs746577567	p.Glu920Lys	missense variant	-	NC_000015.10:g.89632957C>T	ExAC,TOPMed,gnomAD
rs746577567	p.Glu920Ter	stop gained	-	NC_000015.10:g.89632957C>A	ExAC,TOPMed,gnomAD
rs746577567	p.Glu920Gln	missense variant	-	NC_000015.10:g.89632957C>G	ExAC,TOPMed,gnomAD
rs372338933	p.Gln924Glu	missense variant	-	NC_000015.10:g.89632945G>C	ESP,ExAC,TOPMed,gnomAD
rs372338933	p.Gln924Ter	stop gained	-	NC_000015.10:g.89632945G>A	ESP,ExAC,TOPMed,gnomAD
rs747755753	p.Gln925Lys	missense variant	-	NC_000015.10:g.89632942G>T	ExAC,gnomAD
rs147407072	p.Arg926Trp	missense variant	-	NC_000015.10:g.89632939G>A	ESP,ExAC,TOPMed,gnomAD
rs753737326	p.Arg926Gln	missense variant	-	NC_000015.10:g.89632938C>T	ExAC,TOPMed,gnomAD
rs757264957	p.Arg927Gln	missense variant	-	NC_000015.10:g.89632935C>T	ExAC,TOPMed,gnomAD
rs766347192	p.Arg927Trp	missense variant	-	NC_000015.10:g.89632936G>A	ExAC,TOPMed,gnomAD
rs766347192	p.Arg927Gly	missense variant	-	NC_000015.10:g.89632936G>C	ExAC,TOPMed,gnomAD
rs764218371	p.Ala928Val	missense variant	-	NC_000015.10:g.89632932G>A	ExAC,gnomAD
rs764218371	p.Ala928Gly	missense variant	-	NC_000015.10:g.89632932G>C	ExAC,gnomAD
rs1372059117	p.Gly933Ala	missense variant	-	NC_000015.10:g.89632917C>G	gnomAD
NCI-TCGA novel	p.Gly933Glu	missense variant	-	NC_000015.10:g.89632917C>T	NCI-TCGA
rs372753898	p.Glu934Asp	missense variant	-	NC_000015.10:g.89632913C>G	ESP,ExAC,TOPMed,gnomAD
rs556977418	p.Glu934Lys	missense variant	-	NC_000015.10:g.89632915C>T	1000Genomes
rs1445809202	p.Leu936Phe	missense variant	-	NC_000015.10:g.89632909G>A	gnomAD
rs887506789	p.His937Gln	missense variant	-	NC_000015.10:g.89632904G>T	gnomAD
rs1317499145	p.His937Arg	missense variant	-	NC_000015.10:g.89632905T>C	TOPMed
rs760016965	p.Lys938Ter	stop gained	-	NC_000015.10:g.89632903T>A	ExAC,gnomAD
rs1224400412	p.Lys938Asn	missense variant	-	NC_000015.10:g.89632901C>A	TOPMed,gnomAD
rs771525697	p.Arg939Gln	missense variant	-	NC_000015.10:g.89632899C>T	ExAC,gnomAD
rs142786336	p.Arg939Trp	missense variant	-	NC_000015.10:g.89632900G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000638554	p.Arg939Trp	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89632900G>A	ClinVar
rs1337678290	p.Ala941Val	missense variant	-	NC_000015.10:g.89632893G>A	gnomAD
rs746496879	p.Ile942Val	missense variant	-	NC_000015.10:g.89632891T>C	ExAC,gnomAD
rs375079629	p.Leu943Gln	missense variant	-	NC_000015.10:g.89632887A>T	ESP,TOPMed,gnomAD
NCI-TCGA novel	p.Leu943ProPheSerTerUnkUnkUnk	frameshift	-	NC_000015.10:g.89632889_89632890insA	NCI-TCGA
rs556953796	p.Ala944Val	missense variant	-	NC_000015.10:g.89632884G>A	TOPMed,gnomAD
rs372233228	p.Lys946Glu	missense variant	-	NC_000015.10:g.89632879T>C	ESP,ExAC,gnomAD
rs369827484	p.Glu947Ala	missense variant	-	NC_000015.10:g.89632875T>G	ESP,ExAC,gnomAD
rs138410620	p.Ala948Asp	missense variant	-	NC_000015.10:g.89632872G>T	ESP,ExAC,TOPMed,gnomAD
rs778564914	p.Ala948Thr	missense variant	-	NC_000015.10:g.89632873C>T	ExAC,TOPMed,gnomAD
rs778564914	p.Ala948Ser	missense variant	-	NC_000015.10:g.89632873C>A	ExAC,TOPMed,gnomAD
rs138410620	p.Ala948Val	missense variant	-	NC_000015.10:g.89632872G>A	ESP,ExAC,TOPMed,gnomAD
rs749134116	p.Leu949Val	missense variant	-	NC_000015.10:g.89632870G>C	ExAC,gnomAD
rs756146900	p.Met950Thr	missense variant	-	NC_000015.10:g.89632866A>G	ExAC,gnomAD
rs1162231638	p.Gln951Ter	stop gained	-	NC_000015.10:g.89632864G>A	gnomAD
RCV000364818	p.Thr954Met	missense variant	-	NC_000015.10:g.89632854G>A	ClinVar
rs141463861	p.Thr954Met	missense variant	-	NC_000015.10:g.89632854G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1002040263	p.Thr954Ser	missense variant	-	NC_000015.10:g.89632855T>A	TOPMed,gnomAD
rs1223442319	p.Gly955Glu	missense variant	-	NC_000015.10:g.89632851C>T	gnomAD
rs758433714	p.Gly955Trp	missense variant	-	NC_000015.10:g.89632852C>A	ExAC,gnomAD
rs1361697027	p.Glu957Lys	missense variant	-	NC_000015.10:g.89632846C>T	gnomAD
RCV000316792	p.Ser958Ile	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89632842C>A	ClinVar
rs759963623	p.Ser958Arg	missense variant	-	NC_000015.10:g.89632841G>C	ExAC,gnomAD
rs3803530	p.Ser958Ile	missense variant	-	NC_000015.10:g.89632842C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000082813	p.Ser958Ile	missense variant	-	NC_000015.10:g.89632842C>A	ClinVar
rs754318099	p.Lys959Glu	missense variant	-	NC_000015.10:g.89632840T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys959Met	missense variant	-	NC_000015.10:g.89632839T>A	NCI-TCGA
rs766652877	p.Arg960Cys	missense variant	-	NC_000015.10:g.89632837G>A	ExAC,TOPMed,gnomAD
rs149221245	p.Arg960Leu	missense variant	-	NC_000015.10:g.89632836C>A	ESP,ExAC,TOPMed,gnomAD
rs766652877	p.Arg960Gly	missense variant	-	NC_000015.10:g.89632837G>C	ExAC,TOPMed,gnomAD
rs149221245	p.Arg960Pro	missense variant	-	NC_000015.10:g.89632836C>G	ESP,ExAC,TOPMed,gnomAD
rs149221245	p.Arg960His	missense variant	-	NC_000015.10:g.89632836C>T	ESP,ExAC,TOPMed,gnomAD
rs1406326426	p.Arg962Thr	missense variant	-	NC_000015.10:g.89632830C>G	TOPMed,gnomAD
rs1406326426	p.Arg962Lys	missense variant	-	NC_000015.10:g.89632830C>T	TOPMed,gnomAD
rs567836651	p.Ser963Ala	missense variant	-	NC_000015.10:g.89632828A>C	1000Genomes,ExAC,TOPMed,gnomAD
rs567836651	p.Ser963Thr	missense variant	-	NC_000015.10:g.89632828A>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000500907	p.Ser963Thr	missense variant	-	NC_000015.10:g.89632828A>T	ClinVar
rs779835765	p.Ser964Arg	missense variant	-	NC_000015.10:g.89632823G>C	ExAC,gnomAD
rs1409311719	p.Gln965Arg	missense variant	-	NC_000015.10:g.89632821T>C	gnomAD
RCV000296970	p.Ala966Val	missense variant	-	NC_000015.10:g.89631709G>A	ClinVar
RCV000023880	p.Ala966Ter	frameshift	Hydrolethalus syndrome 2 (HLS2)	NC_000015.10:g.89631709_89631710del	ClinVar
rs886042165	p.Ala966Val	missense variant	-	NC_000015.10:g.89631709G>A	TOPMed
RCV000023881	p.Ala966Ter	frameshift	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89631709_89631710del	ClinVar
rs780178459	p.Leu967Phe	missense variant	-	NC_000015.10:g.89631707G>A	ExAC,gnomAD
rs780178459	p.Leu967Val	missense variant	-	NC_000015.10:g.89631707G>C	ExAC,gnomAD
RCV000192450	p.Glu969Asp	missense variant	-	NC_000015.10:g.89631699C>G	ClinVar
rs750812056	p.Glu969Asp	missense variant	-	NC_000015.10:g.89631699C>G	ExAC,TOPMed,gnomAD
rs1243705479	p.Glu969Lys	missense variant	-	NC_000015.10:g.89631701C>T	gnomAD
RCV000766286	p.Glu969Asp	missense variant	-	NC_000015.10:g.89631699C>G	ClinVar
rs911104750	p.Ile971Val	missense variant	-	NC_000015.10:g.89631695T>C	gnomAD
rs79839906	p.Val972Met	missense variant	-	NC_000015.10:g.89631692C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79839906	p.Val972Leu	missense variant	-	NC_000015.10:g.89631692C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs79839906	p.Val972Leu	missense variant	-	NC_000015.10:g.89631692C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs202229910	p.Arg973Ter	stop gained	-	NC_000015.10:g.89631689G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs762483775	p.Arg973Gln	missense variant	-	NC_000015.10:g.89631688C>T	ExAC,TOPMed,gnomAD
RCV000370098	p.Arg973Gly	missense variant	-	NC_000015.10:g.89631689G>C	ClinVar
rs762483775	p.Arg973Pro	missense variant	-	NC_000015.10:g.89631688C>G	ExAC,TOPMed,gnomAD
rs202229910	p.Arg973Gly	missense variant	-	NC_000015.10:g.89631689G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000201660	p.Arg973Ter	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89631689G>A	ClinVar
rs1006839998	p.Val974Met	missense variant	-	NC_000015.10:g.89631686C>T	TOPMed,gnomAD
rs775179475	p.Val974Ala	missense variant	-	NC_000015.10:g.89631685A>G	ExAC,gnomAD
rs764853570	p.Ser975Phe	missense variant	-	NC_000015.10:g.89631682G>A	ExAC,TOPMed,gnomAD
RCV000291777	p.Arg977Gln	missense variant	-	NC_000015.10:g.89631676C>T	ClinVar
rs769540024	p.Arg977Gln	missense variant	-	NC_000015.10:g.89631676C>T	TOPMed,gnomAD
rs759367222	p.Arg977Trp	missense variant	-	NC_000015.10:g.89631677G>A	ExAC,gnomAD
rs1388249791	p.Leu978Pro	missense variant	-	NC_000015.10:g.89631673A>G	TOPMed
rs558313041	p.Glu979Lys	missense variant	-	NC_000015.10:g.89631671C>T	1000Genomes,ExAC,gnomAD
RCV000190601	p.Glu982Ter	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89631662C>A	ClinVar
rs797045093	p.Glu982Ter	stop gained	-	NC_000015.10:g.89631662C>A	TOPMed,gnomAD
rs1163417627	p.Lys983Glu	missense variant	-	NC_000015.10:g.89631659T>C	gnomAD
rs746893972	p.Ser986Phe	missense variant	-	NC_000015.10:g.89631649G>A	ExAC,TOPMed,gnomAD
RCV000591679	p.Glu987Lys	missense variant	-	NC_000015.10:g.89631647C>T	ClinVar
RCV000174963	p.Glu987Val	missense variant	-	NC_000015.10:g.89631646T>A	ClinVar
rs794727157	p.Glu987Val	missense variant	-	NC_000015.10:g.89631646T>A	-
rs146626238	p.Glu987Lys	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89631647C>T	UniProt,dbSNP
VAR_077694	p.Glu987Lys	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89631647C>T	UniProt
rs146626238	p.Glu987Lys	missense variant	-	NC_000015.10:g.89631647C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1489699836	p.Lys988Arg	missense variant	-	NC_000015.10:g.89631643T>C	TOPMed
rs756359749	p.Gly990Trp	missense variant	-	NC_000015.10:g.89631638C>A	ExAC,TOPMed,gnomAD
rs756359749	p.Gly990Arg	missense variant	-	NC_000015.10:g.89631638C>T	ExAC,TOPMed,gnomAD
rs1467513774	p.Gln991Lys	missense variant	-	NC_000015.10:g.89631635G>T	TOPMed
rs867666556	p.Leu992Met	missense variant	-	NC_000015.10:g.89631632G>T	TOPMed,gnomAD
rs572668573	p.Arg993Trp	missense variant	-	NC_000015.10:g.89631629G>A	1000Genomes,TOPMed,gnomAD
rs746107537	p.Arg993Gln	missense variant	-	NC_000015.10:g.89631628C>T	ExAC,TOPMed,gnomAD
RCV000513744	p.Gln994Arg	missense variant	-	NC_000015.10:g.89631625T>C	ClinVar
RCV000174962	p.Gln994Arg	missense variant	-	NC_000015.10:g.89631625T>C	ClinVar
rs138410949	p.Gln994Arg	missense variant	-	NC_000015.10:g.89631625T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146841447	p.Ala997Asp	missense variant	-	NC_000015.10:g.89631616G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs146841447	p.Ala997Val	missense variant	-	NC_000015.10:g.89631616G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs140680470	p.Ala997Thr	missense variant	-	NC_000015.10:g.89631617C>T	ESP,ExAC,gnomAD
rs1224715502	p.Gln998Ter	stop gained	-	NC_000015.10:g.89631614G>A	gnomAD
rs1375916466	p.Ser999Ile	missense variant	-	NC_000015.10:g.89631610C>A	gnomAD
rs387907045	p.Gln1001Ter	stop gained	-	NC_000015.10:g.89631605G>A	-
rs752213543	p.Gln1001His	missense variant	-	NC_000015.10:g.89631603C>A	ExAC
RCV000023883	p.Gln1001Ter	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89631605G>A	ClinVar
rs764805079	p.Gln1002Ter	stop gained	-	NC_000015.10:g.89631602G>A	ExAC
rs1335471018	p.Ile1003Leu	missense variant	-	NC_000015.10:g.89631599T>G	gnomAD
rs143309556	p.Arg1004Cys	missense variant	-	NC_000015.10:g.89631596G>A	ESP,ExAC,TOPMed,gnomAD
rs776364872	p.Arg1004His	missense variant	-	NC_000015.10:g.89631595C>T	ExAC,gnomAD
RCV000082815	p.Gly1005Arg	missense variant	-	NC_000015.10:g.89631593C>T	ClinVar
rs12900805	p.Gly1005Arg	missense variant	-	NC_000015.10:g.89631593C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs12900805	p.Gly1005Arg	missense variant	-	NC_000015.10:g.89631593C>T	UniProt,dbSNP
VAR_035364	p.Gly1005Arg	missense variant	-	NC_000015.10:g.89631593C>T	UniProt
RCV000332349	p.Gly1005Arg	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89631593C>T	ClinVar
rs773260097	p.Glu1006Asp	missense variant	-	NC_000015.10:g.89631588C>A	ExAC
rs142488318	p.Ile1007Met	missense variant	-	NC_000015.10:g.89631585G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs769931246	p.Asp1008Gly	missense variant	-	NC_000015.10:g.89631583T>C	ExAC,TOPMed,gnomAD
rs775366403	p.Asp1008Asn	missense variant	-	NC_000015.10:g.89631584C>T	ExAC,gnomAD
rs775366403	p.Asp1008His	missense variant	-	NC_000015.10:g.89631584C>G	ExAC,gnomAD
rs769931246	p.Asp1008Ala	missense variant	-	NC_000015.10:g.89631583T>G	ExAC,TOPMed,gnomAD
rs373550191	p.Ser1009Ile	missense variant	-	NC_000015.10:g.89631580C>A	ExAC,gnomAD
rs373550191	p.Ser1009Thr	missense variant	-	NC_000015.10:g.89631580C>G	ExAC,gnomAD
rs373550191	p.Ser1009Asn	missense variant	-	NC_000015.10:g.89631580C>T	ExAC,gnomAD
rs1490408814	p.Leu1010Gln	missense variant	-	NC_000015.10:g.89631577A>T	gnomAD
rs1181097058	p.Leu1010Met	missense variant	-	NC_000015.10:g.89631578G>T	gnomAD
rs747425807	p.Arg1011His	missense variant	-	NC_000015.10:g.89631574C>T	ExAC,TOPMed,gnomAD
rs757590116	p.Arg1011Cys	missense variant	-	NC_000015.10:g.89631575G>A	ExAC,TOPMed,gnomAD
rs1487852454	p.Gln1012Ter	stop gained	-	NC_000015.10:g.89631572G>A	gnomAD
rs1265391164	p.Glu1013Ter	stop gained	-	NC_000015.10:g.89631569C>A	gnomAD
rs778245883	p.Glu1013Asp	missense variant	-	NC_000015.10:g.89631567C>A	ExAC,gnomAD
rs753258346	p.Lys1014Asn	missense variant	-	NC_000015.10:g.89631564C>G	ExAC,TOPMed,gnomAD
rs758762297	p.Lys1014Glu	missense variant	-	NC_000015.10:g.89631566T>C	ExAC,TOPMed
rs369139209	p.Asp1015Glu	missense variant	-	NC_000015.10:g.89631561G>C	ESP,ExAC,TOPMed,gnomAD
rs369139209	p.Asp1015Glu	missense variant	-	NC_000015.10:g.89631561G>T	ESP,ExAC,TOPMed,gnomAD
rs1286839357	p.Asp1015Asn	missense variant	-	NC_000015.10:g.89631563C>T	TOPMed,gnomAD
rs184438388	p.Ser1016Leu	missense variant	-	NC_000015.10:g.89631559G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1346364582	p.Ser1016Pro	missense variant	-	NC_000015.10:g.89631560A>G	gnomAD
rs760531844	p.Lys1019Arg	missense variant	-	NC_000015.10:g.89631550T>C	ExAC,TOPMed,gnomAD
rs147423714	p.Lys1019Asn	missense variant	-	NC_000015.10:g.89631549C>G	ExAC,TOPMed,gnomAD
COSM3988205	p.Lys1019Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89631551T>G	NCI-TCGA Cosmic
rs1416932636	p.Arg1021His	missense variant	-	NC_000015.10:g.89631544C>T	TOPMed
rs144493884	p.Arg1021Cys	missense variant	-	NC_000015.10:g.89631545G>A	ESP,ExAC,TOPMed,gnomAD
rs761599017	p.Glu1023Lys	missense variant	-	NC_000015.10:g.89631539C>T	ExAC,gnomAD
rs774368580	p.Glu1023Asp	missense variant	-	NC_000015.10:g.89631537C>A	ExAC,gnomAD
rs761599017	p.Glu1023Ter	stop gained	-	NC_000015.10:g.89631539C>A	ExAC,gnomAD
rs1459630310	p.Ile1024Thr	missense variant	-	NC_000015.10:g.89631535A>G	TOPMed
rs1261726043	p.Asp1025Asn	missense variant	-	NC_000015.10:g.89631533C>T	gnomAD
rs866262325	p.Gly1026Asp	missense variant	-	NC_000015.10:g.89631529C>T	gnomAD
rs1466628518	p.Gly1026Ser	missense variant	-	NC_000015.10:g.89631530C>T	TOPMed,gnomAD
rs1208462065	p.Arg1029Lys	missense variant	-	NC_000015.10:g.89631520C>T	gnomAD
rs547282977	p.Arg1029Ser	missense variant	-	NC_000015.10:g.89631519C>G	1000Genomes,ExAC,gnomAD
rs547282977	p.Arg1029Ser	missense variant	-	NC_000015.10:g.89631519C>A	1000Genomes,ExAC,gnomAD
rs1257998547	p.Gln1030Arg	missense variant	-	NC_000015.10:g.89631517T>C	gnomAD
rs1296508158	p.Gln1030Ter	stop gained	-	NC_000015.10:g.89631518G>A	TOPMed
rs1231255475	p.Gly1031Trp	missense variant	-	NC_000015.10:g.89631515C>A	gnomAD
rs1231255475	p.Gly1031Arg	missense variant	-	NC_000015.10:g.89631515C>T	gnomAD
rs771203785	p.Ser1032Arg	missense variant	-	NC_000015.10:g.89631510A>T	ExAC,TOPMed,gnomAD
rs1415630733	p.Ser1032Ile	missense variant	-	NC_000015.10:g.89631511C>A	TOPMed
rs1383905030	p.Leu1033Pro	missense variant	-	NC_000015.10:g.89631508A>G	gnomAD
rs1328455961	p.Ser1035Cys	missense variant	-	NC_000015.10:g.89631502G>C	TOPMed,gnomAD
rs1328455961	p.Ser1035Phe	missense variant	-	NC_000015.10:g.89631502G>A	TOPMed,gnomAD
rs778051667	p.Pro1036Leu	missense variant	-	NC_000015.10:g.89631499G>A	ExAC,gnomAD
rs1407947785	p.Pro1036Ser	missense variant	-	NC_000015.10:g.89631500G>A	gnomAD
rs779514045	p.Glu1037Lys	missense variant	-	NC_000015.10:g.89631497C>T	ExAC,TOPMed,gnomAD
rs779514045	p.Glu1037Ter	stop gained	-	NC_000015.10:g.89631497C>A	ExAC,TOPMed,gnomAD
rs140549999	p.Glu1039Asp	missense variant	-	NC_000015.10:g.89630488C>A	ESP,ExAC,gnomAD
rs748595084	p.Arg1040Pro	missense variant	-	NC_000015.10:g.89630486C>G	ExAC,TOPMed,gnomAD
rs748595084	p.Arg1040Gln	missense variant	-	NC_000015.10:g.89630486C>T	ExAC,TOPMed,gnomAD
rs772293531	p.Arg1040Trp	missense variant	-	NC_000015.10:g.89630487G>A	ExAC,gnomAD
rs779273024	p.Thr1041Met	missense variant	-	NC_000015.10:g.89630483G>A	ExAC,gnomAD
rs1416633296	p.Thr1041Ala	missense variant	-	NC_000015.10:g.89630484T>C	gnomAD
rs1184688512	p.Phe1043Val	missense variant	-	NC_000015.10:g.89630478A>C	TOPMed,gnomAD
rs1251233063	p.Gln1044Arg	missense variant	-	NC_000015.10:g.89630474T>C	gnomAD
rs1287671158	p.Ile1049Met	missense variant	-	NC_000015.10:g.89630458G>C	TOPMed,gnomAD
rs1453358728	p.Ile1049Val	missense variant	-	NC_000015.10:g.89630460T>C	gnomAD
NCI-TCGA novel	p.Ala1051Thr	missense variant	-	NC_000015.10:g.89630454C>T	NCI-TCGA
rs749819007	p.Leu1052Met	missense variant	-	NC_000015.10:g.89630451G>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp1053Asn	missense variant	-	NC_000015.10:g.89630448C>T	NCI-TCGA
rs1226243795	p.Glu1057Ter	stop gained	-	NC_000015.10:g.89630436C>A	gnomAD
rs779655277	p.Tyr1058Cys	missense variant	-	NC_000015.10:g.89630432T>C	ExAC,TOPMed,gnomAD
rs1213203111	p.Lys1059Arg	missense variant	-	NC_000015.10:g.89630429T>C	TOPMed
RCV000254711	p.Asn1060Ser	missense variant	Macrocephaly with multiple epiphyseal dysplasia and distinctive facies (MMEDF)	NC_000015.10:g.89630426T>C	ClinVar
rs886039282	p.Asn1060Ser	missense variant	Al-Gazali-Bakalinova syndrome (AGBK)	NC_000015.10:g.89630426T>C	UniProt,dbSNP
VAR_071185	p.Asn1060Ser	missense variant	Al-Gazali-Bakalinova syndrome (AGBK)	NC_000015.10:g.89630426T>C	UniProt
rs886039282	p.Asn1060Ser	missense variant	-	NC_000015.10:g.89630426T>C	-
NCI-TCGA novel	p.Ile1063Met	missense variant	-	NC_000015.10:g.89630416G>C	NCI-TCGA
rs1438018558	p.Thr1064Ala	missense variant	-	NC_000015.10:g.89630415T>C	gnomAD
rs1347558209	p.Thr1064Ile	missense variant	-	NC_000015.10:g.89630414G>A	gnomAD
rs756984615	p.Cys1065Tyr	missense variant	-	NC_000015.10:g.89630411C>T	ExAC,gnomAD
rs1405282773	p.Cys1065Ser	missense variant	-	NC_000015.10:g.89630412A>T	gnomAD
RCV000598442	p.Arg1066Cys	missense variant	-	NC_000015.10:g.89630409G>A	ClinVar
rs763937653	p.Arg1066His	missense variant	-	NC_000015.10:g.89630408C>T	ExAC,TOPMed,gnomAD
rs77474187	p.Arg1066Cys	missense variant	-	NC_000015.10:g.89630409G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs201342316	p.Gln1067His	missense variant	-	NC_000015.10:g.89630404C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000638556	p.Arg1068Trp	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89630403G>A	ClinVar
rs147191956	p.Arg1068Trp	missense variant	-	NC_000015.10:g.89630403G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs147191956	p.Arg1068Trp	missense variant	Bardet-Biedl syndrome (BBS)	NC_000015.10:g.89630403G>A	UniProt,dbSNP
VAR_066456	p.Arg1068Trp	missense variant	Bardet-Biedl syndrome (BBS)	NC_000015.10:g.89630403G>A	UniProt
rs767837351	p.Arg1068Pro	missense variant	-	NC_000015.10:g.89630402C>G	ExAC,TOPMed,gnomAD
rs767837351	p.Arg1068Gln	missense variant	-	NC_000015.10:g.89630402C>T	ExAC,TOPMed,gnomAD
rs1269830471	p.Leu1070Phe	missense variant	-	NC_000015.10:g.89630397G>A	gnomAD
rs768917109	p.Arg1071Gln	missense variant	-	NC_000015.10:g.89630393C>T	ExAC,TOPMed,gnomAD
rs570460369	p.Arg1071Trp	missense variant	-	NC_000015.10:g.89630394G>A	1000Genomes,ExAC,gnomAD
RCV000175111	p.Arg1071Trp	missense variant	-	NC_000015.10:g.89630394G>A	ClinVar
COSM4166381	p.Ser1073Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89630387G>A	NCI-TCGA Cosmic
rs202129004	p.Ala1074Ser	missense variant	-	NC_000015.10:g.89630385C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs149378390	p.Ser1075Leu	missense variant	-	NC_000015.10:g.89630381G>A	ESP,ExAC,TOPMed,gnomAD
rs149378390	p.Ser1075Trp	missense variant	-	NC_000015.10:g.89630381G>C	ESP,ExAC,TOPMed,gnomAD
rs745423935	p.Leu1076Met	missense variant	-	NC_000015.10:g.89630379A>T	ExAC,gnomAD
rs1366514608	p.Leu1077Val	missense variant	-	NC_000015.10:g.89630376G>C	TOPMed,gnomAD
rs780698440	p.Ser1078Cys	missense variant	-	NC_000015.10:g.89630372G>C	ExAC,gnomAD
rs1388289752	p.Cys1080Tyr	missense variant	-	NC_000015.10:g.89630366C>T	gnomAD
rs1416370668	p.Glu1081Lys	missense variant	-	NC_000015.10:g.89630364C>T	gnomAD
rs1423214607	p.Met1082Ile	missense variant	-	NC_000015.10:g.89630359C>A	gnomAD
rs746652178	p.Asn1083Thr	missense variant	-	NC_000015.10:g.89630357T>G	ExAC,gnomAD
rs1020101136	p.Met1085Ile	missense variant	-	NC_000015.10:g.89630350C>T	gnomAD
rs1344802464	p.Met1085Thr	missense variant	-	NC_000015.10:g.89630351A>G	TOPMed
rs758215908	p.Ala1086Val	missense variant	-	NC_000015.10:g.89630348G>A	ExAC,gnomAD
rs758215908	p.Ala1086Asp	missense variant	-	NC_000015.10:g.89630348G>T	ExAC,gnomAD
rs765207161	p.Leu1088Phe	missense variant	-	NC_000015.10:g.89630343G>A	ExAC,gnomAD
rs765207161	p.Leu1088Val	missense variant	-	NC_000015.10:g.89630343G>C	ExAC,gnomAD
rs1029711579	p.Ser1089Cys	missense variant	-	NC_000015.10:g.89630340T>A	TOPMed
rs1211868447	p.Tyr1090Ser	missense variant	-	NC_000015.10:g.89630336T>G	gnomAD
rs767497946	p.Leu1091Arg	missense variant	-	NC_000015.10:g.89630333A>C	ExAC,gnomAD
rs762038154	p.Ser1093Phe	missense variant	-	NC_000015.10:g.89630327G>A	ExAC,TOPMed,gnomAD
RCV000522960	p.Ser1094Ter	nonsense	-	NC_000015.10:g.89630324G>C	ClinVar
rs1555423165	p.Ser1094Ter	stop gained	-	NC_000015.10:g.89630324G>C	-
COSM1478462	p.Ser1094Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89630324G>A	NCI-TCGA Cosmic
rs367627150	p.Glu1095Gly	missense variant	-	NC_000015.10:g.89630321T>C	ESP
COSM966353	p.Arg1097Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89630315C>A	NCI-TCGA Cosmic
rs764513802	p.Ala1098Val	missense variant	-	NC_000015.10:g.89630312G>A	ExAC,gnomAD
rs1450512577	p.Leu1099Val	missense variant	-	NC_000015.10:g.89630310G>C	gnomAD
rs1175568695	p.Cys1101Tyr	missense variant	-	NC_000015.10:g.89630303C>T	gnomAD
rs372699643	p.Cys1101Arg	missense variant	-	NC_000015.10:g.89630304A>G	ESP,ExAC,gnomAD
rs745367865	p.Lys1102Thr	missense variant	-	NC_000015.10:g.89630300T>G	ExAC,gnomAD
rs530364548	p.Asp1105Glu	missense variant	-	NC_000015.10:g.89630290G>T	1000Genomes,ExAC,gnomAD
rs1224341278	p.Val1107Ala	missense variant	-	NC_000015.10:g.89629572A>G	gnomAD
rs1174106948	p.Val1108Leu	missense variant	-	NC_000015.10:g.89629570C>G	TOPMed
rs189960711	p.Thr1109Met	missense variant	-	NC_000015.10:g.89629566G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751651054	p.Leu1110Phe	missense variant	-	NC_000015.10:g.89629564G>A	ExAC,gnomAD
rs752985477	p.Arg1111Gln	missense variant	-	NC_000015.10:g.89629560C>T	ExAC,TOPMed,gnomAD
rs752985477	p.Arg1111Pro	missense variant	-	NC_000015.10:g.89629560C>G	ExAC,TOPMed,gnomAD
rs778139192	p.Arg1111Ter	stop gained	-	NC_000015.10:g.89629561G>A	ExAC,TOPMed,gnomAD
RCV000201533	p.Arg1111Ter	nonsense	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89629561G>A	ClinVar
rs371926812	p.Gln1114Arg	missense variant	-	NC_000015.10:g.89629551T>C	ESP,ExAC,TOPMed,gnomAD
rs371926812	p.Gln1114Pro	missense variant	-	NC_000015.10:g.89629551T>G	ESP,ExAC,TOPMed,gnomAD
RCV000363675	p.His1115Gln	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89629547G>C	ClinVar
rs142032413	p.His1115Gln	missense variant	-	NC_000015.10:g.89629547G>C	UniProt,dbSNP
VAR_066457	p.His1115Gln	missense variant	-	NC_000015.10:g.89629547G>C	UniProt
rs142032413	p.His1115Gln	missense variant	-	NC_000015.10:g.89629547G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs142032413	p.His1115Gln	missense variant	-	NC_000015.10:g.89629547G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1159587241	p.Gln1116Ter	stop gained	-	NC_000015.10:g.89629546G>A	gnomAD
rs1409339522	p.Gln1118Glu	missense variant	-	NC_000015.10:g.89629540G>C	gnomAD
COSM416770	p.Gln1118His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89629538C>G	NCI-TCGA Cosmic
rs1344703606	p.Ile1119Met	missense variant	-	NC_000015.10:g.89629535A>C	TOPMed
rs1433273605	p.Ala1120Val	missense variant	-	NC_000015.10:g.89629533G>A	TOPMed,gnomAD
rs1433273605	p.Ala1120Asp	missense variant	-	NC_000015.10:g.89629533G>T	TOPMed,gnomAD
rs202195179	p.Ser1122Ter	stop gained	-	NC_000015.10:g.89629527G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202195179	p.Ser1122Trp	missense variant	-	NC_000015.10:g.89629527G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs202195179	p.Ser1122Trp	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89629527G>C	UniProt,dbSNP
VAR_077695	p.Ser1122Trp	missense variant	Acrocallosal syndrome (ACLS)	NC_000015.10:g.89629527G>C	UniProt
rs202195179	p.Ser1122Leu	missense variant	-	NC_000015.10:g.89629527G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM261686	p.Glu1123Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89629525C>T	NCI-TCGA Cosmic
rs1272984854	p.Leu1124Met	missense variant	-	NC_000015.10:g.89629522G>T	gnomAD
NCI-TCGA novel	p.Glu1125Gly	missense variant	-	NC_000015.10:g.89629518T>C	NCI-TCGA
rs768466946	p.Gln1127Arg	missense variant	-	NC_000015.10:g.89629512T>C	ExAC,gnomAD
rs774024440	p.Gln1127Glu	missense variant	-	NC_000015.10:g.89629513G>C	ExAC,gnomAD
rs774024440	p.Gln1127Ter	stop gained	-	NC_000015.10:g.89629513G>A	ExAC,gnomAD
rs1303482997	p.Gln1131Lys	missense variant	-	NC_000015.10:g.89629501G>T	TOPMed,gnomAD
rs1303482997	p.Gln1131Glu	missense variant	-	NC_000015.10:g.89629501G>C	TOPMed,gnomAD
RCV000520855	p.Gln1132Pro	missense variant	-	NC_000015.10:g.89629497T>G	ClinVar
rs1555423120	p.Gln1132Pro	missense variant	-	NC_000015.10:g.89629497T>G	-
rs749087784	p.Arg1133Thr	missense variant	-	NC_000015.10:g.89629494C>G	ExAC,gnomAD
rs775486378	p.Val1135Gly	missense variant	-	NC_000015.10:g.89629488A>C	ExAC,gnomAD
rs769690192	p.Tyr1136Cys	missense variant	-	NC_000015.10:g.89629485T>C	ExAC,gnomAD
rs745809521	p.Trp1137Arg	missense variant	-	NC_000015.10:g.89629483A>G	ExAC,gnomAD
RCV000597071	p.Trp1137Arg	missense variant	-	NC_000015.10:g.89629483A>G	ClinVar
rs543741055	p.Glu1139Gly	missense variant	-	NC_000015.10:g.89629476T>C	ExAC,gnomAD
rs1477563317	p.Glu1139Gln	missense variant	-	NC_000015.10:g.89629477C>G	TOPMed
rs748345387	p.Val1140Gly	missense variant	-	NC_000015.10:g.89629473A>C	ExAC,gnomAD
rs1432047844	p.Ala1141Val	missense variant	-	NC_000015.10:g.89629470G>A	TOPMed,gnomAD
COSM556339	p.Leu1142Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89629468G>T	NCI-TCGA Cosmic
rs755353975	p.Glu1143Gly	missense variant	-	NC_000015.10:g.89629464T>C	ExAC,TOPMed,gnomAD
RCV000592865	p.Glu1143Gly	missense variant	-	NC_000015.10:g.89629464T>C	ClinVar
rs756521084	p.Arg1144Leu	missense variant	-	NC_000015.10:g.89629461C>A	ExAC,TOPMed,gnomAD
rs571807299	p.Arg1144Trp	missense variant	-	NC_000015.10:g.89629462G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs571807299	p.Arg1144Gly	missense variant	-	NC_000015.10:g.89629462G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs756521084	p.Arg1144Gln	missense variant	-	NC_000015.10:g.89629461C>T	ExAC,TOPMed,gnomAD
rs1204832680	p.Gln1145Ter	stop gained	-	NC_000015.10:g.89629459G>A	TOPMed,gnomAD
rs766975299	p.Arg1146Gly	missense variant	-	NC_000015.10:g.89629456G>C	ExAC,TOPMed,gnomAD
rs761352990	p.Arg1146His	missense variant	-	NC_000015.10:g.89629455C>T	ExAC,TOPMed,gnomAD
rs766975299	p.Arg1146Ser	missense variant	-	NC_000015.10:g.89629456G>T	ExAC,TOPMed,gnomAD
rs766975299	p.Arg1146Cys	missense variant	-	NC_000015.10:g.89629456G>A	ExAC,TOPMed,gnomAD
rs1040193906	p.Met1149Thr	missense variant	-	NC_000015.10:g.89629446A>G	TOPMed
rs762806411	p.Met1149Leu	missense variant	-	NC_000015.10:g.89629447T>G	ExAC
COSM6143163	p.Asp1150Glu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89629442G>T	NCI-TCGA Cosmic
RCV000369635	p.Arg1151Cys	missense variant	-	NC_000015.10:g.89629441G>A	ClinVar
rs886044617	p.Arg1151Cys	missense variant	-	NC_000015.10:g.89629441G>A	TOPMed,gnomAD
rs769648374	p.Gln1152His	missense variant	-	NC_000015.10:g.89629436C>G	ExAC,TOPMed,gnomAD
rs547004343	p.Leu1155Pro	missense variant	-	NC_000015.10:g.89629428A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs748294001	p.Lys1158Gln	missense variant	-	NC_000015.10:g.89629420T>G	ExAC,TOPMed,gnomAD
rs748294001	p.Lys1158Glu	missense variant	-	NC_000015.10:g.89629420T>C	ExAC,TOPMed,gnomAD
rs534969844	p.Lys1158Arg	missense variant	-	NC_000015.10:g.89629419T>C	1000Genomes,ExAC,gnomAD
rs1197021431	p.Glu1159Ala	missense variant	-	NC_000015.10:g.89629416T>G	TOPMed
rs1472890666	p.His1160Tyr	missense variant	-	NC_000015.10:g.89629414G>A	TOPMed
rs755087413	p.His1160Gln	missense variant	-	NC_000015.10:g.89629412G>C	ExAC,TOPMed,gnomAD
rs567337105	p.Glu1161Lys	missense variant	-	NC_000015.10:g.89629411C>T	1000Genomes,ExAC,gnomAD
RCV000514464	p.Glu1161Lys	missense variant	-	NC_000015.10:g.89629411C>T	ClinVar
rs750898883	p.Met1164Thr	missense variant	-	NC_000015.10:g.89629401A>G	ExAC
rs768061319	p.Gln1165Lys	missense variant	-	NC_000015.10:g.89629399G>T	ExAC,TOPMed,gnomAD
rs1258546963	p.Leu1167Phe	missense variant	-	NC_000015.10:g.89629393G>A	gnomAD
rs1198876598	p.Gln1170His	missense variant	-	NC_000015.10:g.89629382C>A	gnomAD
rs138196132	p.Arg1172Gly	missense variant	-	NC_000015.10:g.89629378G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1275424943	p.Arg1172Gln	missense variant	-	NC_000015.10:g.89629377C>T	TOPMed,gnomAD
rs1274899790	p.Leu1175Ile	missense variant	-	NC_000015.10:g.89629117G>T	gnomAD
rs76346806	p.Gly1176Ser	missense variant	-	NC_000015.10:g.89629114C>T	ExAC,TOPMed,gnomAD
rs76346806	p.Gly1176Arg	missense variant	-	NC_000015.10:g.89629114C>G	ExAC,TOPMed,gnomAD
rs76346806	p.Gly1176Cys	missense variant	-	NC_000015.10:g.89629114C>A	ExAC,TOPMed,gnomAD
rs753565474	p.Glu1177Asp	missense variant	-	NC_000015.10:g.89629109T>G	ExAC,gnomAD
rs760557998	p.Asp1181Glu	missense variant	-	NC_000015.10:g.89629097G>T	ExAC
rs766236000	p.Asp1181Gly	missense variant	-	NC_000015.10:g.89629098T>C	ExAC
rs750306469	p.Ser1182Arg	missense variant	-	NC_000015.10:g.89629094G>C	ExAC,gnomAD
rs1399165027	p.Arg1183Ser	missense variant	-	NC_000015.10:g.89629091C>G	TOPMed,gnomAD
rs1161738369	p.Arg1183Lys	missense variant	-	NC_000015.10:g.89629092C>T	gnomAD
rs767550455	p.Gln1185Lys	missense variant	-	NC_000015.10:g.89629087G>T	ExAC,gnomAD
rs1479026507	p.Gln1185Leu	missense variant	-	NC_000015.10:g.89629086T>A	gnomAD
rs762939772	p.Tyr1186Phe	missense variant	-	NC_000015.10:g.89629083T>A	ExAC,gnomAD
rs775574580	p.Glu1187Gly	missense variant	-	NC_000015.10:g.89629080T>C	ExAC,gnomAD
rs759709247	p.Arg1189Gln	missense variant	-	NC_000015.10:g.89629074C>T	ExAC,TOPMed,gnomAD
rs765317455	p.Arg1189Trp	missense variant	-	NC_000015.10:g.89629075G>A	ExAC,gnomAD
rs759709247	p.Arg1189Leu	missense variant	-	NC_000015.10:g.89629074C>A	ExAC,TOPMed,gnomAD
rs759709247	p.Arg1189Pro	missense variant	-	NC_000015.10:g.89629074C>G	ExAC,TOPMed,gnomAD
rs1336053928	p.Gln1191Glu	missense variant	-	NC_000015.10:g.89629069G>C	TOPMed
rs776873744	p.Gln1191Arg	missense variant	-	NC_000015.10:g.89629068T>C	ExAC,gnomAD
rs771258913	p.Ala1192Gly	missense variant	-	NC_000015.10:g.89629065G>C	ExAC,gnomAD
rs542602146	p.Leu1193Met	missense variant	-	NC_000015.10:g.89629063G>T	1000Genomes,ExAC,gnomAD
rs200782729	p.Lys1195Asn	missense variant	-	NC_000015.10:g.89629055C>G	ExAC,TOPMed,gnomAD
rs772561330	p.Lys1195Glu	missense variant	-	NC_000015.10:g.89629057T>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1196Lys	missense variant	-	NC_000015.10:g.89629054C>T	NCI-TCGA
rs778515321	p.Gly1198Arg	missense variant	-	NC_000015.10:g.89629048C>G	ExAC,gnomAD
rs748917501	p.Arg1199Gly	missense variant	-	NC_000015.10:g.89629045G>C	ExAC,TOPMed,gnomAD
rs779900744	p.Arg1199His	missense variant	-	NC_000015.10:g.89629044C>T	ExAC,gnomAD
rs748917501	p.Arg1199Cys	missense variant	-	NC_000015.10:g.89629045G>A	ExAC,TOPMed,gnomAD
rs755847868	p.Tyr1200Ter	stop gained	-	NC_000015.10:g.89629040G>T	ExAC,TOPMed,gnomAD
rs754566088	p.Tyr1200Ter	stop gained	-	NC_000015.10:g.89629041dup	ExAC
rs140710600	p.Met1201Thr	missense variant	-	NC_000015.10:g.89629038A>G	ESP,ExAC,TOPMed,gnomAD
rs918639337	p.Asn1204Lys	missense variant	-	NC_000015.10:g.89629028G>T	gnomAD
rs918639337	p.Asn1204Lys	missense variant	-	NC_000015.10:g.89629028G>C	gnomAD
rs767222111	p.Glu1206Lys	missense variant	-	NC_000015.10:g.89629024C>T	ExAC,TOPMed,gnomAD
rs751522626	p.Lys1210Glu	missense variant	-	NC_000015.10:g.89629012T>C	ExAC,TOPMed,gnomAD
rs765264293	p.Leu1211Arg	missense variant	-	NC_000015.10:g.89629008A>C	ExAC,gnomAD
rs776816025	p.Gly1212Ser	missense variant	-	NC_000015.10:g.89629006C>T	ExAC,gnomAD
rs143316368	p.Gly1213Ser	missense variant	-	NC_000015.10:g.89629003C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143316368	p.Gly1213Arg	missense variant	-	NC_000015.10:g.89629003C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs143316368	p.Gly1213Cys	missense variant	-	NC_000015.10:g.89629003C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs773564872	p.Val1214Met	missense variant	-	NC_000015.10:g.89629000C>T	ExAC,gnomAD
rs773564872	p.Val1214Leu	missense variant	-	NC_000015.10:g.89629000C>G	ExAC,gnomAD
rs1300396333	p.Asn1215Ser	missense variant	-	NC_000015.10:g.89628996T>C	gnomAD
rs1300396333	p.Asn1215Ile	missense variant	-	NC_000015.10:g.89628996T>A	gnomAD
rs748648030	p.Ala1216Thr	missense variant	-	NC_000015.10:g.89628994C>T	ExAC,TOPMed,gnomAD
rs1391595744	p.His1219Tyr	missense variant	-	NC_000015.10:g.89628985G>A	TOPMed,gnomAD
NCI-TCGA novel	p.His1219Asn	missense variant	-	NC_000015.10:g.89628985G>T	NCI-TCGA
rs1373758464	p.Arg1221Thr	missense variant	-	NC_000015.10:g.89628978C>G	gnomAD
rs768259676	p.Arg1221Ser	missense variant	-	NC_000015.10:g.89628977C>A	ExAC,gnomAD
rs748866222	p.Gly1222Ser	missense variant	-	NC_000015.10:g.89628976C>T	ExAC
rs1253883409	p.Gly1223Trp	missense variant	-	NC_000015.10:g.89628784C>A	TOPMed
rs770740912	p.Glu1224Lys	missense variant	-	NC_000015.10:g.89628781C>T	ExAC,gnomAD
rs551619127	p.Arg1226Lys	missense variant	-	NC_000015.10:g.89628774C>T	1000Genomes,ExAC,gnomAD
rs1331387786	p.Leu1228Gln	missense variant	-	NC_000015.10:g.89628768A>T	gnomAD
rs780139363	p.Ser1230Leu	missense variant	-	NC_000015.10:g.89628762G>A	ExAC,TOPMed,gnomAD
rs780139363	p.Ser1230Trp	missense variant	-	NC_000015.10:g.89628762G>C	ExAC,TOPMed,gnomAD
rs1327979036	p.Gly1232Asp	missense variant	-	NC_000015.10:g.89628756C>T	gnomAD
rs1410298399	p.Arg1233Gly	missense variant	-	NC_000015.10:g.89628754T>C	TOPMed,gnomAD
rs750635928	p.Arg1233Thr	missense variant	-	NC_000015.10:g.89628753C>G	ExAC,gnomAD
rs750635928	p.Arg1233Ile	missense variant	-	NC_000015.10:g.89628753C>A	ExAC,gnomAD
rs1438460995	p.Gln1234Glu	missense variant	-	NC_000015.10:g.89628751G>C	TOPMed,gnomAD
rs767690124	p.Ala1235Val	missense variant	-	NC_000015.10:g.89628747G>A	ExAC,TOPMed,gnomAD
rs371960047	p.Asn1238Ser	missense variant	-	NC_000015.10:g.89628738T>C	ESP,ExAC,TOPMed,gnomAD
rs371960047	p.Asn1238Thr	missense variant	-	NC_000015.10:g.89628738T>G	ESP,ExAC,TOPMed,gnomAD
rs763506306	p.Asn1238Lys	missense variant	-	NC_000015.10:g.89628737A>C	ExAC,TOPMed,gnomAD
rs763506306	p.Asn1238Lys	missense variant	-	NC_000015.10:g.89628737A>T	ExAC,TOPMed,gnomAD
rs1426497099	p.Glu1241Gln	missense variant	-	NC_000015.10:g.89628730C>G	TOPMed,gnomAD
rs1467465513	p.His1243Asn	missense variant	-	NC_000015.10:g.89628724G>T	gnomAD
rs1486955587	p.Ala1245Val	missense variant	-	NC_000015.10:g.89628717G>A	gnomAD
NCI-TCGA novel	p.Ala1245Thr	missense variant	-	NC_000015.10:g.89628718C>T	NCI-TCGA
rs374693639	p.Pro1246Ser	missense variant	-	NC_000015.10:g.89628715G>A	ESP,ExAC,gnomAD
NCI-TCGA novel	p.Pro1246Leu	missense variant	-	NC_000015.10:g.89628714G>A	NCI-TCGA
rs149883801	p.Glu1247Lys	missense variant	-	NC_000015.10:g.89628712C>T	ESP,ExAC,TOPMed,gnomAD
rs771882581	p.Glu1247Asp	missense variant	-	NC_000015.10:g.89628710C>G	ExAC,TOPMed,gnomAD
rs201519024	p.Leu1248Val	missense variant	-	NC_000015.10:g.89628709G>C	1000Genomes,ExAC,gnomAD
rs778763577	p.Leu1248His	missense variant	-	NC_000015.10:g.89628708A>T	ExAC,gnomAD
NCI-TCGA novel	p.Leu1248Ile	missense variant	-	NC_000015.10:g.89628709G>T	NCI-TCGA
rs746002125	p.Leu1249Phe	missense variant	-	NC_000015.10:g.89628706G>A	ExAC,gnomAD
rs746002125	p.Leu1249Ile	missense variant	-	NC_000015.10:g.89628706G>T	ExAC,gnomAD
rs1425603781	p.Leu1249Pro	missense variant	-	NC_000015.10:g.89628705A>G	TOPMed
rs781336592	p.Trp1250Ter	stop gained	-	NC_000015.10:g.89628702C>T	ExAC,TOPMed,gnomAD
rs546772749	p.Ser1252Phe	missense variant	-	NC_000015.10:g.89628696G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1378851545	p.Pro1253Ala	missense variant	-	NC_000015.10:g.89628694G>C	TOPMed,gnomAD
rs1378851545	p.Pro1253Ser	missense variant	-	NC_000015.10:g.89628694G>A	TOPMed,gnomAD
rs371645372	p.Pro1253Leu	missense variant	-	NC_000015.10:g.89628693G>A	ESP,ExAC,TOPMed,gnomAD
rs371645372	p.Pro1253His	missense variant	-	NC_000015.10:g.89628693G>T	ESP,ExAC,TOPMed,gnomAD
rs528407611	p.Leu1254Ile	missense variant	-	NC_000015.10:g.89628691G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs759086470	p.Leu1254Pro	missense variant	-	NC_000015.10:g.89628690A>G	ExAC
rs528407611	p.Leu1254Val	missense variant	-	NC_000015.10:g.89628691G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs528407611	p.Leu1254Phe	missense variant	-	NC_000015.10:g.89628691G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1254SerPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.89628691G>-	NCI-TCGA
rs1297493558	p.Thr1255Ile	missense variant	-	NC_000015.10:g.89628687G>A	TOPMed
rs775942651	p.Thr1255Pro	missense variant	-	NC_000015.10:g.89628688T>G	ExAC,gnomAD
rs1307825021	p.Glu1256Lys	missense variant	-	NC_000015.10:g.89628685C>T	TOPMed
rs1189649262	p.Glu1256Asp	missense variant	-	NC_000015.10:g.89628683C>A	gnomAD
rs1208922826	p.Gly1257Glu	missense variant	-	NC_000015.10:g.89628681C>T	TOPMed,gnomAD
rs1208922826	p.Gly1257Val	missense variant	-	NC_000015.10:g.89628681C>A	TOPMed,gnomAD
rs367833833	p.Ala1258Asp	missense variant	-	NC_000015.10:g.89628678G>T	ESP,TOPMed
NCI-TCGA novel	p.Ala1258ProPheSerTerUnkUnk	frameshift	-	NC_000015.10:g.89628678_89628679GC>-	NCI-TCGA
rs1347265316	p.Pro1259Thr	missense variant	-	NC_000015.10:g.89628676G>T	gnomAD
rs765893045	p.Pro1259His	missense variant	-	NC_000015.10:g.89628675G>T	ExAC,gnomAD
COSM1375348	p.Arg1260AlaPheSerTerUnkUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000015.10:g.89628673G>-	NCI-TCGA Cosmic
rs140562404	p.Arg1260Cys	missense variant	-	NC_000015.10:g.89628673G>A	ESP,ExAC,TOPMed,gnomAD
rs147195322	p.Thr1261Asn	missense variant	-	NC_000015.10:g.89628669G>T	ESP,ExAC,TOPMed,gnomAD
rs1282537053	p.Thr1261Pro	missense variant	-	NC_000015.10:g.89628670T>G	gnomAD
rs561205514	p.Arg1262Leu	missense variant	-	NC_000015.10:g.89628666C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs561205514	p.Arg1262Gln	missense variant	-	NC_000015.10:g.89628666C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs142598777	p.Arg1262Trp	missense variant	-	NC_000015.10:g.89628667G>A	ESP,TOPMed,gnomAD
rs768543012	p.Glu1263Gly	missense variant	-	NC_000015.10:g.89628663T>C	ExAC,gnomAD
rs747632760	p.Thr1265Met	missense variant	-	NC_000015.10:g.89628657G>A	ExAC,gnomAD
rs144301755	p.Arg1266Gln	missense variant	-	NC_000015.10:g.89628654C>T	ESP,ExAC,TOPMed,gnomAD
rs747263865	p.Arg1266Trp	missense variant	-	NC_000015.10:g.89628655G>A	ExAC,gnomAD
rs371596537	p.Asp1267Glu	missense variant	-	NC_000015.10:g.89628650G>C	ESP,ExAC,TOPMed,gnomAD
rs752933212	p.Val1269Ala	missense variant	-	NC_000015.10:g.89628645A>G	ExAC,TOPMed,gnomAD
rs754341930	p.Ala1271Thr	missense variant	-	NC_000015.10:g.89628640C>T	ExAC,TOPMed,gnomAD
rs765907353	p.Pro1272Leu	missense variant	-	NC_000015.10:g.89628636G>A	ExAC,TOPMed,gnomAD
rs1185925641	p.Leu1273Phe	missense variant	-	NC_000015.10:g.89628632T>A	gnomAD
NCI-TCGA novel	p.Leu1273Ile	missense variant	-	NC_000015.10:g.89628634A>T	NCI-TCGA
rs767091542	p.Pro1274Ser	missense variant	-	NC_000015.10:g.89628631G>A	ExAC,TOPMed,gnomAD
rs767091542	p.Pro1274Ala	missense variant	-	NC_000015.10:g.89628631G>C	ExAC,TOPMed,gnomAD
rs774071217	p.Thr1276Ile	missense variant	-	NC_000015.10:g.89628624G>A	ExAC,gnomAD
rs749221779	p.Arg1279Cys	missense variant	-	NC_000015.10:g.89628616G>A	ExAC,TOPMed,gnomAD
rs775526351	p.Ser1280Leu	missense variant	-	NC_000015.10:g.89628612G>A	ExAC,gnomAD
rs143877028	p.Ser1281Ile	missense variant	-	NC_000015.10:g.89628609C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778142943	p.Leu1282Arg	missense variant	-	NC_000015.10:g.89628606A>C	ExAC,gnomAD
rs544791294	p.Gly1284Ala	missense variant	-	NC_000015.10:g.89628600C>G	1000Genomes,ExAC,gnomAD
rs755333464	p.Glu1285Lys	missense variant	-	NC_000015.10:g.89628598C>T	ExAC,gnomAD
rs754326027	p.Glu1285Gly	missense variant	-	NC_000015.10:g.89628597T>C	ExAC,gnomAD
rs754326027	p.Glu1285Val	missense variant	-	NC_000015.10:g.89628597T>A	ExAC,gnomAD
rs755333464	p.Glu1285Ter	stop gained	-	NC_000015.10:g.89628598C>A	ExAC,gnomAD
rs1167726963	p.Gly1288Trp	missense variant	-	NC_000015.10:g.89628589C>A	gnomAD
rs1481067037	p.Gly1288Glu	missense variant	-	NC_000015.10:g.89628588C>T	TOPMed
rs750002097	p.Ser1289Phe	missense variant	-	NC_000015.10:g.89628585G>A	ExAC,TOPMed,gnomAD
rs750002097	p.Ser1289Tyr	missense variant	-	NC_000015.10:g.89628585G>T	ExAC,TOPMed,gnomAD
rs751191936	p.Glu1291Gln	missense variant	-	NC_000015.10:g.89628580C>G	ExAC,TOPMed,gnomAD
rs751191936	p.Glu1291Lys	missense variant	-	NC_000015.10:g.89628580C>T	ExAC,TOPMed,gnomAD
rs763825284	p.Glu1291Asp	missense variant	-	NC_000015.10:g.89628578C>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1291ArgPheSerTerUnk	frameshift	-	NC_000015.10:g.89628581G>-	NCI-TCGA
rs1044478234	p.Glu1292Lys	missense variant	-	NC_000015.10:g.89628577C>T	TOPMed,gnomAD
rs1286920618	p.Glu1292Val	missense variant	-	NC_000015.10:g.89628576T>A	TOPMed
rs775579416	p.Leu1293Met	missense variant	-	NC_000015.10:g.89628574G>T	ExAC,TOPMed,gnomAD
rs769783876	p.Arg1296Trp	missense variant	-	NC_000015.10:g.89628565G>A	ExAC,gnomAD
rs201363681	p.Arg1296Gln	missense variant	-	NC_000015.10:g.89628564C>T	TOPMed,gnomAD
rs146300227	p.Ala1298Val	missense variant	-	NC_000015.10:g.89628558G>A	ESP,ExAC,TOPMed,gnomAD
rs779149527	p.Pro1301Thr	missense variant	-	NC_000015.10:g.89628550G>T	ExAC,gnomAD
rs768917178	p.Pro1301Arg	missense variant	-	NC_000015.10:g.89628549G>C	ExAC,gnomAD
rs756672880	p.Val1303Leu	missense variant	-	NC_000015.10:g.89628544C>G	ExAC,TOPMed,gnomAD
rs750907041	p.Gly1304Glu	missense variant	-	NC_000015.10:g.89628540C>T	ExAC
RCV000302149	p.Arg1305Gln	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89628537C>T	ClinVar
rs756750505	p.Arg1305Gly	missense variant	-	NC_000015.10:g.89628538G>C	ExAC,gnomAD
rs756750505	p.Arg1305Trp	missense variant	-	NC_000015.10:g.89628538G>A	ExAC,gnomAD
RCV000175496	p.Arg1305Gln	missense variant	-	NC_000015.10:g.89628537C>T	ClinVar
rs138993311	p.Arg1305Gln	missense variant	-	NC_000015.10:g.89628537C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1199407709	p.Pro1308Leu	missense variant	-	NC_000015.10:g.89628528G>A	gnomAD
rs752603278	p.Glu1311Ala	missense variant	-	NC_000015.10:g.89628519T>G	ExAC,gnomAD
NCI-TCGA novel	p.Glu1311Lys	missense variant	-	NC_000015.10:g.89628520C>T	NCI-TCGA
rs759591288	p.Gly1313Asp	missense variant	-	NC_000015.10:g.89628513C>T	ExAC,TOPMed,gnomAD
rs759591288	p.Gly1313Ala	missense variant	-	NC_000015.10:g.89628513C>G	ExAC,TOPMed,gnomAD
rs1212738375	p.Gly1313Ser	missense variant	-	NC_000015.10:g.89628514C>T	gnomAD
rs149448369	p.Pro1315Ser	missense variant	-	NC_000015.10:g.89628508G>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000175498	p.Pro1315Leu	missense variant	-	NC_000015.10:g.89628507G>A	ClinVar
RCV000529413	p.Pro1315Leu	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89628507G>A	ClinVar
rs150248985	p.Pro1315Leu	missense variant	-	NC_000015.10:g.89628507G>A	ESP,ExAC,TOPMed,gnomAD
rs150248985	p.Pro1315His	missense variant	-	NC_000015.10:g.89628507G>T	ESP,ExAC,TOPMed,gnomAD
rs774442900	p.Asn1317Thr	missense variant	-	NC_000015.10:g.89628501T>G	ExAC,gnomAD
rs1367281895	p.Asn1317Lys	missense variant	-	NC_000015.10:g.89628500G>T	TOPMed
rs768990207	p.Phe1318Ser	missense variant	-	NC_000015.10:g.89628498A>G	ExAC,TOPMed,gnomAD
rs749499441	p.Gly1319Arg	missense variant	-	NC_000015.10:g.89628496C>T	ExAC,TOPMed,gnomAD
rs1301660180	p.Pro1320Ser	missense variant	-	NC_000015.10:g.89628493G>A	gnomAD
rs775882284	p.Pro1320Arg	missense variant	-	NC_000015.10:g.89628492G>C	ExAC,TOPMed,gnomAD
rs1301660180	p.Pro1320Thr	missense variant	-	NC_000015.10:g.89628493G>T	gnomAD
rs375983330	p.Leu1321Ser	missense variant	-	NC_000015.10:g.89628489A>G	ESP,ExAC,TOPMed,gnomAD
rs200891085	p.Ser1322Pro	missense variant	-	NC_000015.10:g.89628487A>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1163281822	p.Ser1322Cys	missense variant	-	NC_000015.10:g.89628486G>C	TOPMed,gnomAD
rs143516080	p.Lys1323Glu	missense variant	-	NC_000015.10:g.89628484T>C	ESP,TOPMed
rs537735484	p.Lys1323Arg	missense variant	-	NC_000015.10:g.89628483T>C	1000Genomes,ExAC,TOPMed,gnomAD
RCV000638552	p.Lys1323Arg	missense variant	Acrocallosal syndrome, Schinzel type (ACLS)	NC_000015.10:g.89628483T>C	ClinVar
rs1174249428	p.Lys1323Asn	missense variant	-	NC_000015.10:g.89628482C>A	gnomAD
rs777140020	p.Arg1325Trp	missense variant	-	NC_000015.10:g.89628478G>A	ExAC,TOPMed,gnomAD
rs73477443	p.Arg1325Gln	missense variant	-	NC_000015.10:g.89628477C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs372979006	p.Arg1326Trp	missense variant	-	NC_000015.10:g.89628475G>A	ESP,ExAC,TOPMed,gnomAD
rs141225908	p.Arg1326Gln	missense variant	-	NC_000015.10:g.89628474C>T	ESP,ExAC,TOPMed,gnomAD
rs1176466407	p.Leu1328Arg	missense variant	-	NC_000015.10:g.89628468A>C	TOPMed
rs202214398	p.Arg1329Leu	missense variant	-	NC_000015.10:g.89628465C>A	ExAC,TOPMed,gnomAD
rs202214398	p.Arg1329Pro	missense variant	-	NC_000015.10:g.89628465C>G	ExAC,TOPMed,gnomAD
rs202214398	p.Arg1329Gln	missense variant	-	NC_000015.10:g.89628465C>T	ExAC,TOPMed,gnomAD
rs147772494	p.Arg1329Ter	stop gained	-	NC_000015.10:g.89628466G>A	ESP,ExAC,TOPMed,gnomAD
VAR_066458	p.Arg1329_Ser1332del	inframe_deletion	Joubert syndrome 12 (JBTS12) [MIM:200990]	-	UniProt
rs370123540	p.Arg1330Ter	stop gained	-	NC_000015.10:g.89628463G>A	ESP,ExAC,TOPMed,gnomAD
rs370123540	p.Arg1330Gly	missense variant	-	NC_000015.10:g.89628463G>C	ESP,ExAC,TOPMed,gnomAD
rs377066237	p.Arg1330Gln	missense variant	-	NC_000015.10:g.89628462C>T	ESP,ExAC,TOPMed,gnomAD
COSM4837367	p.Arg1330Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000015.10:g.89628462C>G	NCI-TCGA Cosmic
rs1363015734	p.Ala1331Val	missense variant	-	NC_000015.10:g.89628459G>A	gnomAD
rs775649452	p.Ala1331Thr	missense variant	-	NC_000015.10:g.89628460C>T	ExAC,gnomAD
rs770165381	p.Ser1332Arg	missense variant	-	NC_000015.10:g.89628455G>T	ExAC,gnomAD
rs1329426953	p.Ser1332Gly	missense variant	-	NC_000015.10:g.89628457T>C	TOPMed
rs145726393	p.Pro1333Gln	missense variant	-	NC_000015.10:g.89628453G>T	1000Genomes,ESP,ExAC,TOPMed
RCV000175494	p.Pro1333Gln	missense variant	-	NC_000015.10:g.89628453G>T	ClinVar
rs145726393	p.Pro1333Arg	missense variant	-	NC_000015.10:g.89628453G>C	1000Genomes,ESP,ExAC,TOPMed
rs145726393	p.Pro1333Leu	missense variant	-	NC_000015.10:g.89628453G>A	1000Genomes,ESP,ExAC,TOPMed
rs1271173524	p.Gly1334Arg	missense variant	-	NC_000015.10:g.89628451C>G	gnomAD
rs1373573111	p.Met1335Ile	missense variant	-	NC_000015.10:g.89628446C>T	gnomAD
rs771532005	p.Met1335Lys	missense variant	-	NC_000015.10:g.89628447A>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Met1335Leu	missense variant	-	NC_000015.10:g.89628448T>A	NCI-TCGA
rs747455856	p.Ile1336Thr	missense variant	-	NC_000015.10:g.89628444A>G	ExAC,TOPMed,gnomAD
rs777387974	p.Asp1337Val	missense variant	-	NC_000015.10:g.89628441T>A	ExAC,gnomAD
rs777387974	p.Asp1337Gly	missense variant	-	NC_000015.10:g.89628441T>C	ExAC,gnomAD
rs747829509	p.Arg1339Gln	missense variant	-	NC_000015.10:g.89628435C>T	ExAC,TOPMed,gnomAD
rs747829509	p.Arg1339Leu	missense variant	-	NC_000015.10:g.89628435C>A	ExAC,TOPMed,gnomAD
rs757946358	p.Arg1339Trp	missense variant	-	NC_000015.10:g.89628436G>A	ExAC,TOPMed,gnomAD
rs778654148	p.Lys1340Arg	missense variant	-	NC_000015.10:g.89628432T>C	ExAC,gnomAD
rs199526156	p.Asn1341Thr	missense variant	-	NC_000015.10:g.89628429T>G	-
rs757991046	p.Pro1342His	missense variant	-	NC_000015.10:g.89628426G>T	ExAC,gnomAD
rs1196224413	p.Pro1342Ser	missense variant	-	NC_000015.10:g.89628427G>A	TOPMed
rs757991046	p.Pro1342Arg	missense variant	-	NC_000015.10:g.89628426G>C	ExAC,gnomAD
rs1278824560	p.Leu1343Val	missense variant	-	NC_000015.10:g.89628424G>C	gnomAD
rs1210799751	p.Leu1343Pro	missense variant	-	NC_000015.10:g.89628423A>G	TOPMed,gnomAD
rs1210799751	p.Leu1343Arg	missense variant	-	NC_000015.10:g.89628423A>C	TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0002902	Anencephaly	disease	HPO
C0003466	Anus, Imperforate	disease	HPO
C0007758	Cerebellar Ataxia	phenotype	CLINVAR
C0008497	Choriocarcinoma	disease	BEFREE
C0008925	Cleft Palate	disease	BEFREE;CTD_human
C0009363	Congenital ocular coloboma (disorder)	disease	GENOMICS_ENGLAND
C0010964	Dandy-Walker Syndrome	disease	HPO
C0012691	Dislocations	group	HPO
C0014306	Enophthalmos	disease	HPO
C0018798	Congenital Heart Defects	group	HPO
C0018816	Heart Septal Defects	group	HPO
C0019284	Diaphragmatic Hernia	phenotype	MGD
C0019294	Hernia, Inguinal	phenotype	HPO
C0019322	Umbilical hernia	phenotype	HPO
C0020224	Polyhydramnios	phenotype	HPO
C0020255	Hydrocephalus	disease	GENOMICS_ENGLAND;HPO
C0020534	Orbital separation excessive	phenotype	HPO
C0020796	Profound Mental Retardation	disease	CTD_human
C0024236	Lymphedema	disease	HPO
C0025202	melanoma	disease	BEFREE
C0025363	Mental Retardation, Psychosocial	disease	CTD_human
C0025990	Micrognathism	disease	HPO
C0026760	Multiple Epiphyseal Dysplasia	disease	BEFREE;HPO
C0026838	Muscle Spasticity	phenotype	CLINVAR
C0028738	Nystagmus	disease	CLINVAR
C0028754	Obesity	disease	HPO
C0029408	Degenerative polyarthritis	disease	HPO
C0034895	Rectovaginal Fistula	phenotype	HPO
C0036857	Severe mental retardation (I.Q. 20-34)	disease	HPO
C0038379	Strabismus	disease	CLINVAR
C0151526	Premature Birth	phenotype	HPO
C0151686	Growth retardation	phenotype	HPO
C0151891	Retinal depigmentation	phenotype	HPO
C0152427	Polydactyly	disease	BEFREE;GENOMICS_ENGLAND
C0154671	Degenerative brain disorder	group	HPO
C0158731	Congenital pectus carinatum	disease	HPO
C0175754	Agenesis of corpus callosum	disease	HPO
C0205851	Germ cell tumor	group	BEFREE
C0220697	POLYDACTYLY, POSTAXIAL	disease	HPO
C0221352	Syndactyly of fingers	disease	HPO
C0221354	Frontal bossing	disease	HPO
C0221355	Macrocephaly	disease	BEFREE
C0221357	Brachydactyly	disease	HPO
C0231246	Failure to gain weight	phenotype	HPO
C0235946	Cerebral atrophy	disease	HPO
C0239234	Low set ears	phenotype	HPO
C0240278	Lymphatic obstruction	phenotype	HPO
C0241397	Triphalangeal thumb	disease	HPO
C0264303	Laryngomalacia	disease	HPO
C0265610	Congenital clinodactyly	disease	HPO
C0265660	Syndactyly of the toes	disease	HPO
C0265766	Congenital atresia of trachea	disease	HPO
C0266122	Cleft uvula	disease	HPO
C0266617	Congenital anomaly of face	group	BEFREE;HPO
C0345354	Radial polydactyly	disease	HPO
C0392006	Unilateral cleft lip	disease	HPO
C0423110	Downward slant of palpebral fissure	phenotype	HPO
C0423224	Sunken eyes	phenotype	HPO
C0424503	Dysmorphic facies	phenotype	HPO
C0426414	Small nose	phenotype	HPO
C0426489	Gingival cleft	phenotype	HPO
C0431371	Absence of septum pellucidum	disease	HPO
C0431399	Familial aplasia of the vermis	disease	BEFREE
C0431904	Ulnar polydactyly of fingers	disease	CLINVAR;HPO
C0432103	Submucous cleft of hard palate	disease	HPO
C0456070	Growth delay	phenotype	HPO
C0521525	Short neck	phenotype	HPO
C0576093	Knee joint valgus deformity	phenotype	HPO
C0678230	Congenital Epicanthus	disease	HPO
C0796147	Acrocallosal Syndrome	disease	BEFREE;CLINVAR;CTD_human;MGD;ORPHANET;UNIPROT
C0869083	Other specified congenital malformation syndromes, not elsewhere classified in ICD10CM	group	MGD
C0878787	Growth failure	phenotype	HPO
C0917816	Mental deficiency	disease	CTD_human
C0950123	Genetic Diseases, Inborn	group	CLINVAR
C1135868	Gestational Trophoblastic Neoplasms	group	BEFREE
C1385263	Deformity of face	phenotype	HPO
C1395852	Polydactyly preaxial type 1	disease	HPO
C1691228	Cystic Kidney Diseases	group	GENOMICS_ENGLAND
C1835229	Onset of lymphedema around puberty	phenotype	HPO
C1837218	Cleft palate, isolated	disease	BEFREE;CTD_human
C1837260	Prominent forehead	phenotype	HPO
C1837385	Poor growth	phenotype	HPO
C1846722	Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies	disease	CLINVAR;CTD_human;ORPHANET;UNIPROT
C1849089	Broad forehead	phenotype	HPO
C1849341	Triangular mouth	phenotype	HPO
C1850049	Clinodactyly of the 5th finger	disease	HPO
C1853737	Prominent occiput	phenotype	HPO
C1854114	Short nose	phenotype	HPO
C1856016	HYDROLETHALUS SYNDROME 1	disease	CTD_human;MGD
C1857130	Hypoplastic mandible condyle	phenotype	HPO
C1857486	Low-set, posteriorly rotated ears	phenotype	HPO
C1857679	Sloping forehead	phenotype	HPO
C1858085	Malar flattening	phenotype	HPO
C1859778	Postnatal growth retardation	phenotype	HPO
C1860162	Bifid distal phalanx of the thumb	phenotype	HPO
C1860164	Duplication of phalanx of hallux	phenotype	HPO
C1860816	Preauricular skin tag	phenotype	HPO
C1861866	Aplasia/Hypoplasia of the corpus callosum	phenotype	HPO
C1865060	Molar tooth sign on MRI	phenotype	HPO
C1866134	Wide anterior fontanel	phenotype	HPO
C1866339	Preaxial Hallucal Polydactyly	disease	HPO
C1867446	Bulging forehead	phenotype	HPO
C2051831	Pectus excavatum	phenotype	HPO
C2112129	Postaxial foot polydactyly	disease	CLINVAR;HPO
C2112942	Preaxial foot polydactyly	phenotype	HPO
C2315100	Pediatric failure to thrive	disease	HPO
C2745997	OROFACIODIGITAL SYNDROME VI	disease	ORPHANET
C2931104	Hydrolethalus syndrome	disease	CTD_human;ORPHANET
C2931618	Gestational trophoblastic disease	disease	BEFREE
C2931760	Acrocallosal syndrome, Schinzel type	disease	ORPHANET;UNIPROT
C2936862	Bardet-Biedl syndrome 1 (disorder)	disease	UNIPROT
C2981150	Uranostaphyloschisis	disease	BEFREE;HPO
C3164374	Abnormality of pulmonary valve	phenotype	HPO
C3277723	JOUBERT SYNDROME 12	disease	CLINVAR;UNIPROT
C3278923	Dilated ventricles (finding)	phenotype	CLINVAR;HPO
C3279899	Hydrolethalus Syndrome 2	disease	CLINVAR;MGD
C3280899	JOUBERT SYNDROME 12/15, DIGENIC	disease	CLINVAR;UNIPROT
C3494422	Retrognathia	phenotype	HPO
C3552463	Very poor growth	phenotype	HPO
C3714756	Intellectual Disability	group	CTD_human;GENOMICS_ENGLAND
C4020691	Partial/complete duplication of the phalanges of the hallux	phenotype	HPO
C4020865	Fibular polydactyly	disease	HPO
C4020894	Submucous clefting	phenotype	HPO
C4021370	Duplication of thumb phalanx	phenotype	HPO
C4021611	Abnormality of epiphysis morphology	phenotype	HPO
C4021655	Abnormality of the sense of smell	phenotype	HPO
C4024589	Aplasia/Hypoplasia of the mandible	phenotype	HPO
C4049796	Abnormality of cardiovascular system morphology	disease	HPO
C4072826	Skin tag on the posterior cheek	phenotype	HPO
C4072832	Distortion of face	phenotype	HPO
C4072833	Funny looking face	phenotype	HPO
C4083076	Increased head circumference	phenotype	HPO
C4255213	Increased size of skull	phenotype	HPO
C4277690	Ciliopathies	group	BEFREE;GENOMICS_ENGLAND;MGD
C4280304	Curvature of digit	phenotype	HPO
C4280538	Curvature of little finger	phenotype	HPO
C4280651	Hypotrophic malar bone	phenotype	HPO
C4280652	Prominent back of the head	phenotype	HPO
C4280664	Big calvaria	phenotype	HPO
C4476523	Decreased projection of lower jaw	phenotype	HPO
C4476524	Decreased projection of mandible	phenotype	HPO
C4476525	Retrusion of lower jaw	phenotype	HPO
C4531021	Undergrowth	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0003777	microtubule motor activity	IDA
GO:0003777	microtubule motor activity	IBA
GO:0005515	protein binding	IPI
GO:0005524	ATP binding	IEA
GO:0008017	microtubule binding	IBA
GO:0016887	ATPase activity	IBA

GO:Biological Process

GO ID	GO Term	Evidence
GO:0007018	microtubule-based movement	IBA
GO:0045879	negative regulation of smoothened signaling pathway	ISS
GO:0045880	positive regulation of smoothened signaling pathway	ISS

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0005737	cytoplasm	IEA
GO:0005871	kinesin complex	IBA
GO:0005874	microtubule	IBA
GO:0005929	cilium	IDA
GO:0036064	ciliary basal body	ISS
GO:0097542	ciliary tip	TAS

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-162582	Signal Transduction	TAS
R-HSA-5358351	Signaling by Hedgehog	TAS
R-HSA-5610787	Hedgehog 'off' state	TAS
R-HSA-5632684	Hedgehog 'on' state	TAS

Drugs and compounds information

ID	Drug Name	Action	PubMed
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 bisphenol A] results in increased expression of KIF7 mRNA	28628672
D000535	Aluminum	[APP protein modified form binds to Aluminum] which results in increased expression of KIF7 mRNA	21298039
D001151	Arsenic	Arsenic affects the methylation of KIF7 gene	25304211
D001280	Atrazine	Atrazine results in increased expression of KIF7 mRNA	25929836
D001280	Atrazine	Atrazine results in decreased expression of KIF7 mRNA	22378314
C006780	bisphenol A	bisphenol A affects the expression of KIF7 mRNA	21786754
C006780	bisphenol A	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of KIF7 mRNA	28628672
C006780	bisphenol A	bisphenol A affects the expression of KIF7 mRNA	30816183
C006780	bisphenol A	bisphenol A results in decreased expression of KIF7 mRNA	25181051
C018475	butyraldehyde	butyraldehyde results in increased methylation of KIF7 gene	30002397
D002117	Calcitriol	Calcitriol results in decreased expression of KIF7 mRNA	21592394
D002117	Calcitriol	[Testosterone co-treated with Calcitriol] results in decreased expression of KIF7 mRNA	21592394
C031639	caprylic aldehyde	caprylic aldehyde results in increased methylation of KIF7 gene	30002397
D002945	Cisplatin	Cisplatin results in decreased expression of KIF7 mRNA	27392435
D016572	Cyclosporine	Cyclosporine results in decreased expression of KIF7 mRNA	27989131
D003907	Dexamethasone	Dexamethasone inhibits the reaction [RX3 gene mutant form affects the expression of KIF7 mRNA]	27941970
D003907	Dexamethasone	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of KIF7 mRNA	28628672
D004026	Dieldrin	Dieldrin results in increased expression of KIF7 mRNA	23041725
D004041	Dietary Fats	[Dietary Fats co-treated with Resveratrol] results in increased expression of KIF7 mRNA	21852083
D004726	Endosulfan	Endosulfan results in decreased expression of KIF7 mRNA	29391264
D004997	Ethinyl Estradiol	Ethinyl Estradiol results in increased expression of KIF7 mRNA	23129252
C046204	heptanal	heptanal results in increased methylation of KIF7 gene	30002397
D007213	Indomethacin	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of KIF7 mRNA	28628672
D008694	Methamphetamine	Methamphetamine results in increased expression of KIF7 mRNA	29802913
C010463	n-hexanal	n-hexanal results in increased methylation of KIF7 gene	30002397
C007350	nitrofen	nitrofen results in decreased expression of KIF7 mRNA	25921351
C007350	nitrofen	nitrofen results in decreased expression of KIF7 protein	25921351
C008664	nonanal	nonanal results in increased methylation of KIF7 gene	30002397
D000077150	Oxaliplatin	[Oxaliplatin co-treated with Topotecan] results in decreased expression of KIF7 mRNA	25729387
C046012	pentanal	pentanal results in increased methylation of KIF7 gene	30002397
D011192	Potassium Dichromate	Potassium Dichromate results in increased expression of KIF7 mRNA	23608068
D011374	Progesterone	Progesterone results in increased expression of KIF7 mRNA	19690047
C005556	propionaldehyde	propionaldehyde results in increased methylation of KIF7 gene	30002397
D011441	Propylthiouracil	Propylthiouracil results in increased expression of KIF7 mRNA	24780913
D000077185	Resveratrol	[Dietary Fats co-treated with Resveratrol] results in increased expression of KIF7 mRNA	21852083
D053260	Soot	Soot results in increased expression of KIF7 mRNA	26551751
D013739	Testosterone	[Testosterone co-treated with Calcitriol] results in decreased expression of KIF7 mRNA	21592394
D013739	Testosterone	Testosterone results in decreased expression of KIF7 mRNA	21592394
D019772	Topotecan	[Oxaliplatin co-treated with Topotecan] results in decreased expression of KIF7 mRNA	25729387
D019772	Topotecan	Topotecan results in decreased expression of KIF7 mRNA	25729387
C016805	tris(1,3-dichloro-2-propyl)phosphate	tris(1,3-dichloro-2-propyl)phosphate results in increased expression of KIF7 mRNA	26179874
D014635	Valproic Acid	Valproic Acid results in increased methylation of KIF7 gene	29154799

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0067	ATP-binding
KW-0083	Bardet-Biedl syndrome
KW-0966	Cell projection
KW-1186	Ciliopathy
KW-0969	Cilium
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0225	Disease mutation
KW-0979	Joubert syndrome
KW-0991	Mental retardation
KW-0505	Motor protein
KW-0547	Nucleotide-binding
KW-0550	Obesity
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0678	Repressor
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR027640	Kinesin-like_fam
IPR019821	Kinesin_motor_CS
IPR001752	Kinesin_motor_dom
IPR036961	Kinesin_motor_dom_sf
IPR027417	P-loop_NTPase

PROSITE

PROSITE ID	PROSITE Term
PS00411	KINESIN_MOTOR_1
PS50067	KINESIN_MOTOR_2

Pfam

Pfam ID	Pfam Term
PF00225	Kinesin

Gene: KIF7

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

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