CleftGeneDB-Search

Gene: MYH9

Basic information

Tag	Content
Uniprot ID	P35579; A8K6E4; O60805; Q60FE2; Q86T83;
Entrez ID	4627
Genbank protein ID	CAD89954.1; BAD52439.1; CAG30412.1; EAW60096.1; AAA61765.1; AAA36349.1; BAF84298.1; AAA59888.1; BAG06729.1;
Genbank nucleotide ID	XM_017028805.1; XM_017028806.1; NM_002473.5; XM_017028804.1; XM_011530197.2; XM_017028803.1;
Ensembl protein ID	ENSP00000216181
Ensembl nucleotide ID	ENSG00000100345
Gene name	Myosin-9
Gene symbol	MYH9
Organism	Homo sapiens
NCBI taxa ID	9606
Cleft type	CPO,CL/P
Developmental stage
Data sources	Manually collected
Reference	18716610; 19320731; 19891592;
Functional description	Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping. During cell spreading, plays an important role in cytoskeleton reorganization, focal contacts formation (in the margins but not the central part of spreading cells), and lamellipodial retraction; this function is mechanically antagonized by MYH10.
Sequence	MAQQAADKYL YVDKNFINNP LAQADWAAKK LVWVPSDKSG FEPASLKEEV GEEAIVELVE 60 NGKKVKVNKD DIQKMNPPKF SKVEDMAELT CLNEASVLHN LKERYYSGLI YTYSGLFCVV 120 INPYKNLPIY SEEIVEMYKG KKRHEMPPHI YAITDTAYRS MMQDREDQSI LCTGESGAGK 180 TENTKKVIQY LAYVASSHKS KKDQGELERQ LLQANPILEA FGNAKTVKND NSSRFGKFIR 240 INFDVNGYIV GANIETYLLE KSRAIRQAKE ERTFHIFYYL LSGAGEHLKT DLLLEPYNKY 300 RFLSNGHVTI PGQQDKDMFQ ETMEAMRIMG IPEEEQMGLL RVISGVLQLG NIVFKKERNT 360 DQASMPDNTA AQKVSHLLGI NVTDFTRGIL TPRIKVGRDY VQKAQTKEQA DFAIEALAKA 420 TYERMFRWLV LRINKALDKT KRQGASFIGI LDIAGFEIFD LNSFEQLCIN YTNEKLQQLF 480 NHTMFILEQE EYQREGIEWN FIDFGLDLQP CIDLIEKPAG PPGILALLDE ECWFPKATDK 540 SFVEKVMQEQ GTHPKFQKPK QLKDKADFCI IHYAGKVDYK ADEWLMKNMD PLNDNIATLL 600 HQSSDKFVSE LWKDVDRIIG LDQVAGMSET ALPGAFKTRK GMFRTVGQLY KEQLAKLMAT 660 LRNTNPNFVR CIIPNHEKKA GKLDPHLVLD QLRCNGVLEG IRICRQGFPN RVVFQEFRQR 720 YEILTPNSIP KGFMDGKQAC VLMIKALELD SNLYRIGQSK VFFRAGVLAH LEEERDLKIT 780 DVIIGFQACC RGYLARKAFA KRQQQLTAMK VLQRNCAAYL KLRNWQWWRL FTKVKPLLQV 840 SRQEEEMMAK EEELVKVREK QLAAENRLTE METLQSQLMA EKLQLQEQLQ AETELCAEAE 900 ELRARLTAKK QELEEICHDL EARVEEEEER CQHLQAEKKK MQQNIQELEE QLEEEESARQ 960 KLQLEKVTTE AKLKKLEEEQ IILEDQNCKL AKEKKLLEDR IAEFTTNLTE EEEKSKSLAK 1020 LKNKHEAMIT DLEERLRREE KQRQELEKTR RKLEGDSTDL SDQIAELQAQ IAELKMQLAK 1080 KEEELQAALA RVEEEAAQKN MALKKIRELE SQISELQEDL ESERASRNKA EKQKRDLGEE 1140 LEALKTELED TLDSTAAQQE LRSKREQEVN ILKKTLEEEA KTHEAQIQEM RQKHSQAVEE 1200 LAEQLEQTKR VKANLEKAKQ TLENERGELA NEVKVLLQGK GDSEHKRKKV EAQLQELQVK 1260 FNEGERVRTE LADKVTKLQV ELDNVTGLLS QSDSKSSKLT KDFSALESQL QDTQELLQEE 1320 NRQKLSLSTK LKQVEDEKNS FREQLEEEEE AKHNLEKQIA TLHAQVADMK KKMEDSVGCL 1380 ETAEEVKRKL QKDLEGLSQR HEEKVAAYDK LEKTKTRLQQ ELDDLLVDLD HQRQSACNLE 1440 KKQKKFDQLL AEEKTISAKY AEERDRAEAE AREKETKALS LARALEEAME QKAELERLNK 1500 QFRTEMEDLM SSKDDVGKSV HELEKSKRAL EQQVEEMKTQ LEELEDELQA TEDAKLRLEV 1560 NLQAMKAQFE RDLQGRDEQS EEKKKQLVRQ VREMEAELED ERKQRSMAVA ARKKLEMDLK 1620 DLEAHIDSAN KNRDEAIKQL RKLQAQMKDC MRELDDTRAS REEILAQAKE NEKKLKSMEA 1680 EMIQLQEELA AAERAKRQAQ QERDELADEI ANSSGKGALA LEEKRRLEAR IAQLEEELEE 1740 EQGNTELIND RLKKANLQID QINTDLNLER SHAQKNENAR QQLERQNKEL KVKLQEMEGT 1800 VKSKYKASIT ALEAKIAQLE EQLDNETKER QAACKQVRRT EKKLKDVLLQ VDDERRNAEQ 1860 YKDQADKAST RLKQLKRQLE EAEEEAQRAN ASRRKLQREL EDATETADAM NREVSSLKNK 1920 LRRGDLPFVV PRRMARKGAG DGSDEEVDGK ADGAEAKPAE

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

Gene expression in different tissues (ENCODE)

Protein structural annotations

3D structure in PDB database

PDB ID
2LNK
3ZWH
4CFQ
4CFR
4ETO
2LNK
4CFQ

Protein disorder information

Orthologous information

Relation	Gene symbol	Entrez ID	UniProt ID	Cleft type	Species	Evidence	Details
1:1 ortholog	MYH9		F1P9J3		Canis lupus familiaris	Prediction	More>>
1:1 ortholog	MYH9		A0A452FAS7		Capra hircus	Prediction	More>>
1:1 ortholog	MYH9	4627	P35579	CPO,CL/P	Homo sapiens	Publication	More>>
1:1 ortholog	Myh9	17886	Q8VDD5		Mus musculus	Prediction	More>>
1:1 ortholog	MYH9		A0A2I3T2I7		Pan troglodytes	Prediction	More>>
1:1 ortholog	Myh9	25745	G3V6P7		Rattus norvegicus	Prediction	More>>
1:1 ortholog	myh9b		F1QJK4		Danio rerio	Prediction	More>>

Identified variants/mutations related to cleft phenotype

Gene symbol	Significant Variants/SNPS	Methods	PubMed ID
MYH9	rs2269529T>C	TDT	19891592
MYH9	rs16996652A>T	TDT	19891592
MYH9	rs7078	PCR; TDT	19320731
MYH9	rs1002246	Linkage analysis	18716610
MYH9	rs2269529T>C; c.4876A>G; p.I1626V	WES and Sanger sequencing	26449438

Other genetic variants/mutations

ID	Variant	Type	Disease	Chromosome\Coordinate	Evidence
rs56200894	p.Gln3Glu	missense variant	-	NC_000022.11:g.36349230G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000298717	p.Gln3Glu	missense variant	MYH9-related disorder	NC_000022.11:g.36349230G>C	ClinVar
rs56200894	p.Gln3Lys	missense variant	-	NC_000022.11:g.36349230G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000369754	p.Gln3Glu	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36349230G>C	ClinVar
rs773960235	p.Gln4Arg	missense variant	-	NC_000022.11:g.36349226T>C	ExAC,TOPMed,gnomAD
RCV000613702	p.Gln4Arg	missense variant	-	NC_000022.11:g.36349226T>C	ClinVar
rs762745890	p.Asp7Asn	missense variant	-	NC_000022.11:g.36349218C>T	NCI-TCGA Cosmic
rs376417391	p.Asp7Gly	missense variant	-	NC_000022.11:g.36349217T>C	ESP,TOPMed
rs762745890	p.Asp7Asn	missense variant	-	NC_000022.11:g.36349218C>T	ExAC,TOPMed,gnomAD
rs762745890	p.Asp7Tyr	missense variant	-	NC_000022.11:g.36349218C>A	ExAC,TOPMed,gnomAD
rs1396960700	p.Tyr9His	missense variant	-	NC_000022.11:g.36349212A>G	NCI-TCGA Cosmic
rs1396960700	p.Tyr9His	missense variant	-	NC_000022.11:g.36349212A>G	TOPMed
COSM1308129	p.Leu10Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36349209G>C	NCI-TCGA Cosmic
RCV000585195	p.Tyr11Ter	frameshift	-	NC_000022.11:g.36349205_36349206del	ClinVar
RCV000613271	p.Tyr11Cys	missense variant	-	NC_000022.11:g.36349205T>C	ClinVar
rs201415443	p.Tyr11Cys	missense variant	-	NC_000022.11:g.36349205T>C	ESP,ExAC,TOPMed,gnomAD
rs745587751	p.Val12Leu	missense variant	-	NC_000022.11:g.36349203C>G	ExAC,gnomAD
rs1409179671	p.Asp13Ala	missense variant	-	NC_000022.11:g.36349199T>G	TOPMed
rs776649398	p.Asp13Tyr	missense variant	-	NC_000022.11:g.36349200C>A	ExAC,gnomAD
rs776649398	p.Asp13Asn	missense variant	-	NC_000022.11:g.36349200C>T	ExAC,gnomAD
rs770811497	p.Lys14Arg	missense variant	-	NC_000022.11:g.36349196T>C	ExAC,gnomAD
rs1478280355	p.Asn15Asp	missense variant	-	NC_000022.11:g.36349194T>C	gnomAD
rs1268363545	p.Phe16Leu	missense variant	-	NC_000022.11:g.36349189G>C	gnomAD
NCI-TCGA novel	p.Ile17Thr	missense variant	-	NC_000022.11:g.36349187A>G	NCI-TCGA
rs748468366	p.Asn18Lys	missense variant	-	NC_000022.11:g.36349183G>T	ExAC,TOPMed,gnomAD
rs746915345	p.Asn18Asp	missense variant	-	NC_000022.11:g.36349185T>C	ExAC,TOPMed,gnomAD
rs748468366	p.Asn18Lys	missense variant	-	NC_000022.11:g.36349183G>C	ExAC,TOPMed,gnomAD
rs568919566	p.Asn18Ser	missense variant	-	NC_000022.11:g.36349184T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1195771824	p.Asn19Asp	missense variant	-	NC_000022.11:g.36349182T>C	TOPMed,gnomAD
rs755382917	p.Pro20Leu	missense variant	-	NC_000022.11:g.36349178G>A	ExAC,gnomAD
rs1350004821	p.Asp25Glu	missense variant	-	NC_000022.11:g.36349162G>C	TOPMed,gnomAD
rs750944944	p.Asp25Asn	missense variant	-	NC_000022.11:g.36349164C>T	ExAC,gnomAD
rs763757101	p.Ala27Pro	missense variant	-	NC_000022.11:g.36349158C>G	ExAC,gnomAD
rs1408199233	p.Ala28Ser	missense variant	-	NC_000022.11:g.36349155C>A	gnomAD
COSM4833534	p.Trp33Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36349139C>T	NCI-TCGA Cosmic
rs375000039	p.Pro35Leu	missense variant	-	NC_000022.11:g.36349133G>A	ESP,ExAC,TOPMed,gnomAD
COSM3800180	p.Asp37His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36349128C>G	NCI-TCGA Cosmic
rs1428883091	p.Asp37Asn	missense variant	-	NC_000022.11:g.36349128C>T	gnomAD
rs1189741384	p.Ser39Arg	missense variant	-	NC_000022.11:g.36349120A>C	TOPMed,gnomAD
RCV000790339	p.Phe41Ser	missense variant	MYH9-related disorder	NC_000022.11:g.36349115A>G	ClinVar
RCV000424167	p.Phe41Ser	missense variant	-	NC_000022.11:g.36349115A>G	ClinVar
rs1057520107	p.Phe41Ser	missense variant	-	NC_000022.11:g.36349115A>G	-
NCI-TCGA novel	p.Ala44Thr	missense variant	-	NC_000022.11:g.36349107C>T	NCI-TCGA
rs1479109063	p.Ala44Gly	missense variant	-	NC_000022.11:g.36349106G>C	gnomAD
rs770688464	p.Ser45Asn	missense variant	-	NC_000022.11:g.36349103C>T	ExAC,gnomAD
rs147122501	p.Leu46Phe	missense variant	-	NC_000022.11:g.36349101G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000509473	p.Leu46Phe	missense variant	Macular dystrophy, atypical vitelliform (VMD1)	NC_000022.11:g.36349101G>A	ClinVar
rs772142110	p.Lys47Arg	missense variant	-	NC_000022.11:g.36349097T>C	ExAC
rs1276910148	p.Val50Met	missense variant	-	NC_000022.11:g.36349089C>T	gnomAD
rs755115939	p.Glu52Gly	missense variant	-	NC_000022.11:g.36349082T>C	ExAC,gnomAD
rs779218645	p.Glu52Lys	missense variant	-	NC_000022.11:g.36349083C>T	ExAC,gnomAD
rs546497514	p.Glu53Ala	missense variant	-	NC_000022.11:g.36349079T>G	1000Genomes,ExAC,TOPMed,gnomAD
rs563932558	p.Val56Met	missense variant	-	NC_000022.11:g.36349071C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs563932558	p.Val56Leu	missense variant	-	NC_000022.11:g.36349071C>A	1000Genomes,ExAC,TOPMed,gnomAD
RCV000612887	p.Glu57Val	missense variant	-	NC_000022.11:g.36349067T>A	ClinVar
rs751041617	p.Glu57Val	missense variant	-	NC_000022.11:g.36349067T>A	ExAC,gnomAD
NCI-TCGA novel	p.Leu58Pro	missense variant	-	NC_000022.11:g.36349064A>G	NCI-TCGA
COSM1416067	p.Val59Ala	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36349061A>G	NCI-TCGA Cosmic
rs1426062541	p.Lys63Arg	missense variant	-	NC_000022.11:g.36349049T>C	gnomAD
rs1158070467	p.Lys64Arg	missense variant	-	NC_000022.11:g.36349046T>C	TOPMed,gnomAD
RCV000765636	p.Val65Met	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36349044C>T	ClinVar
RCV000610555	p.Val65Met	missense variant	-	NC_000022.11:g.36349044C>T	ClinVar
rs377348805	p.Val65Met	missense variant	-	NC_000022.11:g.36349044C>T	ESP,ExAC,TOPMed,gnomAD
rs377348805	p.Val65Leu	missense variant	-	NC_000022.11:g.36349044C>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys69Asn	missense variant	-	NC_000022.11:g.36349030C>A	NCI-TCGA
rs929085586	p.Asp70Asn	missense variant	-	NC_000022.11:g.36349029C>T	TOPMed
rs764768999	p.Asp70Ala	missense variant	-	NC_000022.11:g.36349028T>G	ExAC,TOPMed,gnomAD
rs759156685	p.Gln73Arg	missense variant	-	NC_000022.11:g.36349019T>C	ExAC,gnomAD
RCV000378918	p.Pro78Leu	missense variant	MYH9-related disorder	NC_000022.11:g.36349004G>A	ClinVar
rs150313549	p.Pro78Leu	missense variant	-	NC_000022.11:g.36349004G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000345258	p.Pro78Leu	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36349004G>A	ClinVar
NCI-TCGA novel	p.Lys82GlyPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36348916_36348994TGAGTAGTAACGCTCCTTGAGGTTGTGCAGCACCGAGGCTTCGTTGAGGCACGTGAGCTCTGCCATGTCCTCCACCTTG>-	NCI-TCGA
rs771947799	p.Glu84Gln	missense variant	-	NC_000022.11:g.36348987C>G	ExAC,gnomAD
rs774334908	p.Met86Thr	missense variant	-	NC_000022.11:g.36348980A>G	ExAC,gnomAD
rs1451904073	p.Ala87Ser	missense variant	-	NC_000022.11:g.36348978C>A	gnomAD
rs749533216	p.Glu88Val	missense variant	-	NC_000022.11:g.36348974T>A	ExAC,gnomAD
rs749533216	p.Glu88Ala	missense variant	-	NC_000022.11:g.36348974T>G	ExAC,gnomAD
COSM1416066	p.Cys91Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36348965C>T	NCI-TCGA Cosmic
COSM444941	p.Leu92Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36348963G>C	NCI-TCGA Cosmic
RCV000790350	p.Asn93Lys	missense variant	MYH9-related disorder	NC_000022.11:g.36348958G>C	ClinVar
RCV000015122	p.Asn93Lys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348958G>C	ClinVar
rs1359996610	p.Asn93Ser	missense variant	-	NC_000022.11:g.36348959T>C	gnomAD
rs121913655	p.Asn93Lys	missense variant	-	NC_000022.11:g.36348958G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs121913655	p.Asn93Lys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348958G>C	UniProt,dbSNP
VAR_010791	p.Asn93Lys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348958G>C	UniProt
COSM4103838	p.Glu94Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36348957C>T	NCI-TCGA Cosmic
VAR_018308	p.Ala95Thr	Missense	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]	-	UniProt
RCV000790352	p.Ser96Leu	missense variant	MYH9-related disorder	NC_000022.11:g.36348950G>A	ClinVar
RCV000477821	p.Ser96Leu	missense variant	Deafness, autosomal dominant nonsyndromic sensorineural 17 (DFNA17)	NC_000022.11:g.36348950G>A	ClinVar
rs121913657	p.Ser96Leu	missense variant	-	NC_000022.11:g.36348950G>A	-
rs121913657	p.Ser96Leu	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348950G>A	UniProt,dbSNP
VAR_018309	p.Ser96Leu	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348950G>A	UniProt
RCV000015138	p.Ser96Leu	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36348950G>A	ClinVar
rs781771309	p.Val97Leu	missense variant	-	NC_000022.11:g.36348948C>G	ExAC,TOPMed,gnomAD
rs781771309	p.Val97Leu	missense variant	-	NC_000022.11:g.36348948C>A	ExAC,TOPMed,gnomAD
rs920764409	p.Asn100Thr	missense variant	-	NC_000022.11:g.36348938T>G	TOPMed
rs757740573	p.Lys102Arg	missense variant	-	NC_000022.11:g.36348932T>C	ExAC,gnomAD
rs778342329	p.Arg104His	missense variant	-	NC_000022.11:g.36348926C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg104Cys	missense variant	-	NC_000022.11:g.36348927G>A	NCI-TCGA
COSM4833546	p.Ser107Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36348917G>C	NCI-TCGA Cosmic
rs1241867025	p.Leu109Phe	missense variant	-	NC_000022.11:g.36348912G>A	gnomAD
rs750178366	p.Ile110Leu	missense variant	-	NC_000022.11:g.36348909T>G	ExAC,gnomAD
rs747387786	p.Tyr113Cys	missense variant	-	NC_000022.11:g.36341522T>C	ExAC,gnomAD
rs1423923026	p.Cys118Tyr	missense variant	-	NC_000022.11:g.36341507C>T	TOPMed,gnomAD
rs1250904991	p.Val119Ala	missense variant	-	NC_000022.11:g.36341504A>G	TOPMed
rs1197773737	p.Val119Leu	missense variant	-	NC_000022.11:g.36341505C>G	gnomAD
rs748614086	p.Ile129Val	missense variant	-	NC_000022.11:g.36341475T>C	ExAC,gnomAD
rs1427950733	p.Ser131Thr	missense variant	-	NC_000022.11:g.36341469A>T	gnomAD
rs779562117	p.Gly140Ser	missense variant	-	NC_000022.11:g.36341442C>T	ExAC,gnomAD
rs1318401504	p.Lys141Arg	missense variant	-	NC_000022.11:g.36341438T>C	gnomAD
rs745522193	p.Lys141Asn	missense variant	-	NC_000022.11:g.36341437C>G	ExAC,TOPMed,gnomAD
rs780891211	p.Arg143Lys	missense variant	-	NC_000022.11:g.36341432C>T	ExAC,gnomAD
COSM726441	p.Glu145Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36341425C>G	NCI-TCGA Cosmic
rs751343355	p.Glu145Lys	missense variant	-	NC_000022.11:g.36341427C>T	ExAC
rs1457631648	p.Glu145Asp	missense variant	-	NC_000022.11:g.36341425C>A	TOPMed
rs727503294	p.Met146Lys	missense variant	-	NC_000022.11:g.36341423A>T	-
RCV000151358	p.Met146Lys	missense variant	-	NC_000022.11:g.36341423A>T	ClinVar
COSM3553960	p.Pro147Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36341420G>A	NCI-TCGA Cosmic
COSM580097	p.His149Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36341415G>C	NCI-TCGA Cosmic
NCI-TCGA novel	p.His149SerPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36341416_36341417insG	NCI-TCGA
NCI-TCGA novel	p.Ile150Phe	missense variant	-	NC_000022.11:g.36341412T>A	NCI-TCGA
rs1376851882	p.Tyr151Phe	missense variant	-	NC_000022.11:g.36341408T>A	gnomAD
rs758437344	p.Ala152Val	missense variant	-	NC_000022.11:g.36341405G>A	ExAC,gnomAD
RCV000502575	p.Thr156Ser	missense variant	-	NC_000022.11:g.36341393G>C	ClinVar
rs931698088	p.Thr156Ser	missense variant	-	NC_000022.11:g.36341393G>C	TOPMed
rs765414835	p.Ala157Gly	missense variant	-	NC_000022.11:g.36341390G>C	ExAC,gnomAD
rs1401567846	p.Ala157Thr	missense variant	-	NC_000022.11:g.36341391C>T	gnomAD
rs765414835	p.Ala157Val	missense variant	-	NC_000022.11:g.36341390G>A	ExAC,gnomAD
rs1378936782	p.Met162Leu	missense variant	-	NC_000022.11:g.36341376T>A	gnomAD
rs576081279	p.Arg165Gln	missense variant	-	NC_000022.11:g.36327485C>T	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Asp167Val	missense variant	-	NC_000022.11:g.36327479T>A	NCI-TCGA
rs760974197	p.Gln168His	missense variant	-	NC_000022.11:g.36327475T>A	ExAC,TOPMed,gnomAD
rs1488079328	p.Gln168Lys	missense variant	-	NC_000022.11:g.36327477G>T	gnomAD
rs376494037	p.Ile170Val	missense variant	-	NC_000022.11:g.36327471T>C	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile170Phe	missense variant	-	NC_000022.11:g.36327471T>A	NCI-TCGA
NCI-TCGA novel	p.Cys172Tyr	missense variant	-	NC_000022.11:g.36327464C>T	NCI-TCGA
NCI-TCGA novel	p.Cys172LeuPheSerTerUnk	frameshift	-	NC_000022.11:g.36327464_36327465insA	NCI-TCGA
NCI-TCGA novel	p.Gly179Asp	missense variant	-	NC_000022.11:g.36326644C>T	NCI-TCGA
NCI-TCGA novel	p.Asn183Ser	missense variant	-	NC_000022.11:g.36326632T>C	NCI-TCGA
rs1425138671	p.Tyr190Cys	missense variant	-	NC_000022.11:g.36326611T>C	TOPMed
rs1330043219	p.Ala192Val	missense variant	-	NC_000022.11:g.36326605G>A	TOPMed,gnomAD
rs773050248	p.Val194Leu	missense variant	-	NC_000022.11:g.36326600C>G	ExAC,gnomAD
rs773050248	p.Val194Met	missense variant	-	NC_000022.11:g.36326600C>T	ExAC,gnomAD
COSM1416065	p.Ala195Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36326596G>A	NCI-TCGA Cosmic
rs747764327	p.Ser197Leu	missense variant	-	NC_000022.11:g.36326590G>A	ExAC,gnomAD
rs1408955749	p.His198Tyr	missense variant	-	NC_000022.11:g.36326588G>A	TOPMed
rs768277556	p.Lys202Asn	missense variant	-	NC_000022.11:g.36326574C>G	ExAC,gnomAD
rs1398352381	p.Gly205Asp	missense variant	-	NC_000022.11:g.36322520C>T	gnomAD
rs748355717	p.Glu206Lys	missense variant	-	NC_000022.11:g.36322518C>T	ExAC,gnomAD
rs779158750	p.Leu207Val	missense variant	-	NC_000022.11:g.36322515G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu208Lys	missense variant	-	NC_000022.11:g.36322512C>T	NCI-TCGA
rs780693982	p.Arg209Gln	missense variant	-	NC_000022.11:g.36322508C>T	ExAC,TOPMed,gnomAD
rs780693982	p.Arg209Leu	missense variant	-	NC_000022.11:g.36322508C>A	ExAC,TOPMed,gnomAD
rs754461620	p.Arg209Trp	missense variant	-	NC_000022.11:g.36322509G>A	ExAC,gnomAD
rs1168142434	p.Leu211Arg	missense variant	-	NC_000022.11:g.36322502A>C	gnomAD
rs751080870	p.Leu211Val	missense variant	-	NC_000022.11:g.36322503G>C	ExAC,gnomAD
rs1378345210	p.Leu212Val	missense variant	-	NC_000022.11:g.36322500G>C	TOPMed,gnomAD
RCV000151354	p.Gln213Ter	nonsense	-	NC_000022.11:g.36322497G>A	ClinVar
rs727503292	p.Gln213Ter	stop gained	-	NC_000022.11:g.36322497G>A	-
NCI-TCGA novel	p.Ala214Val	missense variant	-	NC_000022.11:g.36322493G>A	NCI-TCGA
rs763616997	p.Asn215Ser	missense variant	-	NC_000022.11:g.36322490T>C	ExAC,gnomAD
RCV000625590	p.Ala220Thr	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36322476C>T	ClinVar
rs1556637683	p.Ala220Thr	missense variant	-	NC_000022.11:g.36322476C>T	-
rs1190062913	p.Ala220Val	missense variant	-	NC_000022.11:g.36322475G>A	TOPMed,gnomAD
rs375965637	p.Phe221Leu	missense variant	-	NC_000022.11:g.36322471G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs759316855	p.Lys225Glu	missense variant	-	NC_000022.11:g.36322461T>C	ExAC,gnomAD
RCV000414478	p.Val227Met	missense variant	-	NC_000022.11:g.36322455C>T	ClinVar
rs760568093	p.Val227Met	missense variant	-	NC_000022.11:g.36322455C>T	ExAC,gnomAD
rs772134801	p.Lys228Arg	missense variant	-	NC_000022.11:g.36322451T>C	ExAC,gnomAD
rs1386247353	p.Asp230Asn	missense variant	-	NC_000022.11:g.36322446C>T	gnomAD
COSM6161832	p.Ser233Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36322436G>A	NCI-TCGA Cosmic
COSM1033854	p.Arg234His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36322433C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gly236Ala	missense variant	-	NC_000022.11:g.36321820C>G	NCI-TCGA
rs1312994728	p.Ile239Leu	missense variant	-	NC_000022.11:g.36321812T>G	gnomAD
rs766168499	p.Arg240Cys	missense variant	-	NC_000022.11:g.36321809G>A	ExAC,TOPMed,gnomAD
rs755933569	p.Arg240His	missense variant	-	NC_000022.11:g.36321808C>T	ExAC,gnomAD
rs959415898	p.Ile241Asn	missense variant	-	NC_000022.11:g.36321805A>T	TOPMed,gnomAD
rs142891887	p.Ile241Val	missense variant	-	NC_000022.11:g.36321806T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs959415898	p.Ile241Thr	missense variant	-	NC_000022.11:g.36321805A>G	TOPMed,gnomAD
rs1185066318	p.Asn242Ser	missense variant	-	NC_000022.11:g.36321802T>C	gnomAD
COSM4824815	p.Asp244Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36321797C>T	NCI-TCGA Cosmic
rs1474352622	p.Asp244Gly	missense variant	-	NC_000022.11:g.36321796T>C	gnomAD
rs774602087	p.Asn246Ser	missense variant	-	NC_000022.11:g.36321790T>C	ExAC,TOPMed,gnomAD
rs371035780	p.Tyr248Ter	stop gained	-	NC_000022.11:g.36321783G>T	ESP,ExAC,TOPMed,gnomAD
rs1488026984	p.Tyr248Cys	missense variant	-	NC_000022.11:g.36321784T>C	gnomAD
NCI-TCGA novel	p.Gly251Glu	missense variant	-	NC_000022.11:g.36321775C>T	NCI-TCGA
rs763278314	p.Asn253Ser	missense variant	-	NC_000022.11:g.36321769T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ile254Val	missense variant	-	NC_000022.11:g.36321767T>C	NCI-TCGA
rs1173355919	p.Ile254Thr	missense variant	-	NC_000022.11:g.36321766A>G	TOPMed
NCI-TCGA novel	p.Glu255Lys	missense variant	-	NC_000022.11:g.36321764C>T	NCI-TCGA
rs775785923	p.Thr256Ala	missense variant	-	NC_000022.11:g.36321761T>C	ExAC,gnomAD
NCI-TCGA novel	p.Leu258Ile	missense variant	-	NC_000022.11:g.36320894G>T	NCI-TCGA
COSM1714338	p.Arg263Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36320879G>A	NCI-TCGA Cosmic
rs1245854888	p.Ala264Val	missense variant	-	NC_000022.11:g.36320875G>A	TOPMed,gnomAD
rs1050634599	p.Ala264Thr	missense variant	-	NC_000022.11:g.36320876C>T	TOPMed,gnomAD
rs1208877771	p.Arg266Cys	missense variant	-	NC_000022.11:g.36320870G>A	TOPMed
NCI-TCGA novel	p.Gln267SerPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36320847_36320868GGTCCGTTCTTCCTTGGCTTGG>-	NCI-TCGA
rs1330357532	p.Lys269Arg	missense variant	-	NC_000022.11:g.36320860T>C	gnomAD
rs759639480	p.Glu270Lys	missense variant	-	NC_000022.11:g.36320858C>T	ExAC,gnomAD
COSM1033852	p.Glu271Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36320855C>A	NCI-TCGA Cosmic
rs1169742196	p.Arg272Gln	missense variant	-	NC_000022.11:g.36320851C>T	gnomAD
rs777079976	p.Arg272Gly	missense variant	-	NC_000022.11:g.36320852G>C	ExAC,gnomAD
RCV000156222	p.Tyr278Cys	missense variant	-	NC_000022.11:g.36320833T>C	ClinVar
rs727504863	p.Tyr278Cys	missense variant	-	NC_000022.11:g.36320833T>C	ExAC,TOPMed,gnomAD
rs533560353	p.Tyr278Asp	missense variant	-	NC_000022.11:g.36320834A>C	1000Genomes,ExAC
COSM3992136	p.Leu280His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36320827A>T	NCI-TCGA Cosmic
rs773704266	p.Leu280Phe	missense variant	-	NC_000022.11:g.36320828G>A	ExAC,gnomAD
NCI-TCGA novel	p.Ser282Cys	missense variant	-	NC_000022.11:g.36320821G>C	NCI-TCGA
NCI-TCGA novel	p.Gly285Glu	missense variant	-	NC_000022.11:g.36320812C>T	NCI-TCGA
rs1188816913	p.Gly285Val	missense variant	-	NC_000022.11:g.36320812C>A	TOPMed
RCV000151352	p.His287Tyr	missense variant	-	NC_000022.11:g.36320807G>A	ClinVar
rs768214654	p.His287Pro	missense variant	-	NC_000022.11:g.36320806T>G	ExAC,gnomAD
rs727503291	p.His287Tyr	missense variant	-	NC_000022.11:g.36320807G>A	TOPMed
rs1470212122	p.Lys289Arg	missense variant	-	NC_000022.11:g.36320800T>C	gnomAD
rs1212353878	p.Thr290Asn	missense variant	-	NC_000022.11:g.36320363G>T	gnomAD
rs371205546	p.Asp291Asn	missense variant	-	NC_000022.11:g.36320361C>T	ESP,ExAC,TOPMed,gnomAD
rs1221969347	p.Leu293Pro	missense variant	-	NC_000022.11:g.36320354A>G	gnomAD
rs1443226186	p.Glu295Lys	missense variant	-	NC_000022.11:g.36320349C>T	gnomAD
rs559841300	p.Pro296Leu	missense variant	-	NC_000022.11:g.36320345G>A	1000Genomes,ExAC,gnomAD
NCI-TCGA novel	p.Tyr297His	missense variant	-	NC_000022.11:g.36320343A>G	NCI-TCGA
NCI-TCGA novel	p.Tyr297Ter	stop gained	-	NC_000022.11:g.36320341G>C	NCI-TCGA
rs1165886425	p.Asn298Lys	missense variant	-	NC_000022.11:g.36320338G>T	TOPMed
rs752627937	p.Tyr300Cys	missense variant	-	NC_000022.11:g.36320333T>C	ExAC,gnomAD
NCI-TCGA novel	p.Arg301His	missense variant	-	NC_000022.11:g.36320330C>T	NCI-TCGA
rs375657864	p.Phe302Leu	missense variant	-	NC_000022.11:g.36320326G>C	ESP,ExAC,gnomAD
rs1410636847	p.Asn305Lys	missense variant	-	NC_000022.11:g.36320317A>C	gnomAD
rs755009539	p.Asn305Ser	missense variant	-	NC_000022.11:g.36320318T>C	ExAC,TOPMed,gnomAD
rs766489467	p.His307Gln	missense variant	-	NC_000022.11:g.36320311G>T	ExAC,TOPMed,gnomAD
rs577429531	p.Val308Ile	missense variant	-	NC_000022.11:g.36320310C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000217070	p.Ile310Val	missense variant	-	NC_000022.11:g.36320304T>C	ClinVar
rs149789202	p.Ile310Val	missense variant	-	NC_000022.11:g.36320304T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs544183939	p.Pro311Ser	missense variant	-	NC_000022.11:g.36320301G>A	1000Genomes,ExAC,gnomAD
rs369011405	p.Gly312Arg	missense variant	-	NC_000022.11:g.36320298C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln313SerPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36320299G>-	NCI-TCGA
rs769409234	p.Asp317Gly	missense variant	-	NC_000022.11:g.36320282T>C	ExAC,gnomAD
rs758951998	p.Met318Leu	missense variant	-	NC_000022.11:g.36320280T>G	ExAC,TOPMed,gnomAD
rs758951998	p.Met318Val	missense variant	-	NC_000022.11:g.36320280T>C	ExAC,TOPMed,gnomAD
RCV000615696	p.Met318Val	missense variant	-	NC_000022.11:g.36320280T>C	ClinVar
NCI-TCGA novel	p.Gln320LeuPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36320273_36320274insTGAGGTTGTGCAGCACCGA	NCI-TCGA
rs1334470148	p.Gln320Arg	missense variant	-	NC_000022.11:g.36320273T>C	gnomAD
rs1291719553	p.Thr322Ala	missense variant	-	NC_000022.11:g.36320268T>C	gnomAD
rs1364094810	p.Met323Thr	missense variant	-	NC_000022.11:g.36320264A>G	TOPMed
rs776391713	p.Glu324Gly	missense variant	-	NC_000022.11:g.36320261T>C	ExAC,gnomAD
rs1288302731	p.Arg327Trp	missense variant	-	NC_000022.11:g.36320253T>A	gnomAD
rs376652889	p.Gly330Cys	missense variant	-	NC_000022.11:g.36320244C>A	ESP,ExAC,gnomAD
rs376652889	p.Gly330Ser	missense variant	-	NC_000022.11:g.36320244C>T	ESP,ExAC,gnomAD
rs139798339	p.Ile331Val	missense variant	-	NC_000022.11:g.36320241T>C	ESP,ExAC,TOPMed,gnomAD
rs1461292054	p.Glu334Asp	missense variant	-	NC_000022.11:g.36320230C>G	gnomAD
NCI-TCGA novel	p.Gln336Arg	missense variant	-	NC_000022.11:g.36320225T>C	NCI-TCGA
NCI-TCGA novel	p.Met337Ile	missense variant	-	NC_000022.11:g.36320221C>T	NCI-TCGA
rs1416099595	p.Met337Thr	missense variant	-	NC_000022.11:g.36320222A>G	gnomAD
rs369633699	p.Leu339Met	missense variant	-	NC_000022.11:g.36319633G>T	ESP,ExAC,TOPMed,gnomAD
rs759123154	p.Arg341Trp	missense variant	-	NC_000022.11:g.36319627G>A	ExAC,TOPMed,gnomAD
rs1300678332	p.Arg341Gln	missense variant	-	NC_000022.11:g.36319626C>T	TOPMed
rs1467075674	p.Val342Ile	missense variant	-	NC_000022.11:g.36319624C>T	TOPMed,gnomAD
rs1467075674	p.Val342Phe	missense variant	-	NC_000022.11:g.36319624C>A	TOPMed,gnomAD
COSM4983993	p.Leu347Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36319609G>A	NCI-TCGA Cosmic
rs1044816218	p.Leu347Val	missense variant	-	NC_000022.11:g.36319609G>C	TOPMed
rs765931557	p.Leu349Phe	missense variant	-	NC_000022.11:g.36319603G>A	ExAC,gnomAD
rs1464752413	p.Gly350Ser	missense variant	-	NC_000022.11:g.36319600C>T	TOPMed
rs375702969	p.Val353Ile	missense variant	-	NC_000022.11:g.36319591C>T	ESP,ExAC,TOPMed,gnomAD
rs1489239596	p.Lys355Arg	missense variant	-	NC_000022.11:g.36319584T>C	TOPMed
rs747874038	p.Lys356Arg	missense variant	-	NC_000022.11:g.36319581T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gln362Ter	stop gained	-	NC_000022.11:g.36319564G>A	NCI-TCGA
COSM1216263	p.Ala363Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36319560G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala363Thr	missense variant	-	NC_000022.11:g.36319561C>T	NCI-TCGA
rs780120030	p.Pro366Ala	missense variant	-	NC_000022.11:g.36319552G>C	ExAC,gnomAD
rs780120030	p.Pro366Ser	missense variant	-	NC_000022.11:g.36319552G>A	ExAC,gnomAD
rs1354670070	p.Asp367Asn	missense variant	-	NC_000022.11:g.36319549C>T	gnomAD
COSM1033849	p.Asn368Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36319545T>C	NCI-TCGA Cosmic
rs746155138	p.Asn368Asp	missense variant	-	NC_000022.11:g.36319546T>C	ExAC,gnomAD
NCI-TCGA novel	p.Ala371Val	missense variant	-	NC_000022.11:g.36318322G>A	NCI-TCGA
VAR_018310	p.Lys373Asn	Missense	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]	-	UniProt
COSM3912721	p.Leu377Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36318305G>A	NCI-TCGA Cosmic
rs753318371	p.Gly379Val	missense variant	-	NC_000022.11:g.36318298C>A	ExAC,TOPMed,gnomAD
rs753318371	p.Gly379Asp	missense variant	-	NC_000022.11:g.36318298C>T	ExAC,TOPMed,gnomAD
COSM3553958	p.Thr383Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36318286G>A	NCI-TCGA Cosmic
RCV000319014	p.Asp384Asn	missense variant	MYH9-related disorder	NC_000022.11:g.36318284C>T	ClinVar
NCI-TCGA novel	p.Asp384Glu	missense variant	-	NC_000022.11:g.36318282A>C	NCI-TCGA
rs767088377	p.Asp384Asn	missense variant	-	NC_000022.11:g.36318284C>T	ExAC,gnomAD
RCV000375903	p.Asp384Asn	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36318284C>T	ClinVar
NCI-TCGA novel	p.Phe385Ser	missense variant	-	NC_000022.11:g.36318280A>G	NCI-TCGA
NCI-TCGA novel	p.Phe385Val	missense variant	-	NC_000022.11:g.36318281A>C	NCI-TCGA
rs761384179	p.Thr386Ser	missense variant	-	NC_000022.11:g.36318277G>C	ExAC,TOPMed,gnomAD
rs761384179	p.Thr386Ile	missense variant	-	NC_000022.11:g.36318277G>A	ExAC,TOPMed,gnomAD
rs1412531533	p.Arg387Ser	missense variant	-	NC_000022.11:g.36318273T>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ile389Asn	missense variant	-	NC_000022.11:g.36318268A>T	NCI-TCGA
rs1312887570	p.Thr391Ile	missense variant	-	NC_000022.11:g.36318262G>A	gnomAD
COSM4460643	p.Pro392Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36318260G>A	NCI-TCGA Cosmic
RCV000722213	p.Arg393Cys	missense variant	-	NC_000022.11:g.36318257G>A	ClinVar
rs202023656	p.Arg393His	missense variant	-	NC_000022.11:g.36318256C>T	ExAC,gnomAD
rs1156464508	p.Arg393Cys	missense variant	-	NC_000022.11:g.36318257G>A	TOPMed
rs1454168105	p.Gly397Ala	missense variant	-	NC_000022.11:g.36318244C>G	TOPMed,gnomAD
COSM4642639	p.Arg398Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36318242G>A	NCI-TCGA Cosmic
rs759425387	p.Arg398Gln	missense variant	-	NC_000022.11:g.36318241C>T	ExAC,gnomAD
NCI-TCGA novel	p.Asp399Gly	missense variant	-	NC_000022.11:g.36318238T>C	NCI-TCGA
rs369581570	p.Val401Ile	missense variant	-	NC_000022.11:g.36318233C>T	ExAC,TOPMed,gnomAD
rs747265281	p.Lys403Arg	missense variant	-	NC_000022.11:g.36318226T>C	ExAC,gnomAD
rs1482592893	p.Ala404Val	missense variant	-	NC_000022.11:g.36318223G>A	TOPMed,gnomAD
rs746493683	p.Ala410Val	missense variant	-	NC_000022.11:g.36316668G>A	ExAC,gnomAD
rs138436678	p.Ile414Met	missense variant	-	NC_000022.11:g.36316655G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs752286142	p.Glu415Lys	missense variant	-	NC_000022.11:g.36316654C>T	ExAC,gnomAD
rs972459144	p.Ala418Val	missense variant	-	NC_000022.11:g.36316644G>A	gnomAD
COSM1327245	p.Ala420Ser	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36316639C>A	NCI-TCGA Cosmic
rs779646317	p.Ala420Val	missense variant	-	NC_000022.11:g.36316638G>A	TOPMed
rs1223862358	p.Tyr422Cys	missense variant	-	NC_000022.11:g.36316632T>C	TOPMed
COSM4826825	p.Glu423Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36316630C>T	NCI-TCGA Cosmic
RCV000681823	p.Arg424Gln	missense variant	-	NC_000022.11:g.36316626C>T	ClinVar
rs1321659356	p.Arg424Gln	missense variant	-	NC_000022.11:g.36316626C>T	TOPMed
rs961182177	p.Met425Leu	missense variant	-	NC_000022.11:g.36316624T>A	TOPMed
rs1247656863	p.Arg427Cys	missense variant	-	NC_000022.11:g.36316618G>A	TOPMed,gnomAD
rs760489771	p.Arg427His	missense variant	-	NC_000022.11:g.36316617C>T	ExAC,TOPMed,gnomAD
rs773366133	p.Val430Gly	missense variant	-	NC_000022.11:g.36316608A>C	ExAC,gnomAD
rs767440614	p.Leu431Val	missense variant	-	NC_000022.11:g.36316606G>C	ExAC,TOPMed,gnomAD
rs769199813	p.Arg432His	missense variant	-	NC_000022.11:g.36316602C>T	ExAC,gnomAD
rs774708443	p.Arg432Gly	missense variant	-	NC_000022.11:g.36316603G>C	ExAC
rs774708443	p.Arg432Cys	missense variant	-	NC_000022.11:g.36316603G>A	ExAC
rs1236399112	p.Ile433Val	missense variant	-	NC_000022.11:g.36316600T>C	gnomAD
NCI-TCGA novel	p.Asn434Lys	missense variant	-	NC_000022.11:g.36316595G>C	NCI-TCGA
NCI-TCGA novel	p.Asn434Asp	insertion	-	NC_000022.11:g.36316594_36316595insATC	NCI-TCGA
rs749647444	p.Asn434Ser	missense variant	-	NC_000022.11:g.36316596T>C	ExAC,TOPMed,gnomAD
rs770360786	p.Ala436Ser	missense variant	-	NC_000022.11:g.36316591C>A	ExAC,gnomAD
rs770360786	p.Ala436Thr	missense variant	-	NC_000022.11:g.36316591C>T	ExAC,gnomAD
rs746308824	p.Lys439Asn	missense variant	-	NC_000022.11:g.36316580C>G	ExAC,gnomAD
rs777347688	p.Thr440Ser	missense variant	-	NC_000022.11:g.36316578G>C	ExAC,gnomAD
rs777347688	p.Thr440Ile	missense variant	-	NC_000022.11:g.36316578G>A	ExAC,gnomAD
rs1309957564	p.Lys441Arg	missense variant	-	NC_000022.11:g.36316575T>C	gnomAD
rs747859181	p.Arg442Ser	missense variant	-	NC_000022.11:g.36316571C>G	ExAC,gnomAD
rs1437113375	p.Gly444Cys	missense variant	-	NC_000022.11:g.36316567C>A	gnomAD
rs1158286758	p.Ala445Thr	missense variant	-	NC_000022.11:g.36316564C>T	gnomAD
rs1476839512	p.Ser446Pro	missense variant	-	NC_000022.11:g.36316561A>G	TOPMed
rs753698107	p.Ile448Val	missense variant	-	NC_000022.11:g.36316555T>C	ExAC,gnomAD
rs1485096168	p.Gly449Glu	missense variant	-	NC_000022.11:g.36316551C>T	gnomAD
rs1401912876	p.Ile450Thr	missense variant	-	NC_000022.11:g.36316548A>G	TOPMed
rs756091700	p.Ile453Thr	missense variant	-	NC_000022.11:g.36316539A>G	ExAC,gnomAD
NCI-TCGA novel	p.Phe456Leu	missense variant	-	NC_000022.11:g.36316529G>C	NCI-TCGA
COSM124618	p.Glu457Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36316528C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp460Gly	missense variant	-	NC_000022.11:g.36316518T>C	NCI-TCGA
rs781250396	p.Ser463Leu	missense variant	-	NC_000022.11:g.36314311G>A	ExAC,gnomAD
COSM6022027	p.Glu465Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36314306C>G	NCI-TCGA Cosmic
COSM726445	p.Ile469Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36314292G>C	NCI-TCGA Cosmic
rs751720764	p.Asn470Ser	missense variant	-	NC_000022.11:g.36314290T>C	ExAC,TOPMed,gnomAD
rs1469861257	p.Tyr471Cys	missense variant	-	NC_000022.11:g.36314287T>C	TOPMed
COSM461109	p.Glu474Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36314279C>G	NCI-TCGA Cosmic
rs1391306150	p.Thr483Ile	missense variant	-	NC_000022.11:g.36314251G>A	gnomAD
COSM726446	p.Glu488Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36314237C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu490Asp	missense variant	-	NC_000022.11:g.36314229C>G	NCI-TCGA
NCI-TCGA novel	p.Tyr492Cys	missense variant	-	NC_000022.11:g.36314224T>C	NCI-TCGA
rs759798434	p.Arg494Cys	missense variant	-	NC_000022.11:g.36314219G>A	ExAC,gnomAD
rs1166441183	p.Arg494His	missense variant	-	NC_000022.11:g.36314218C>T	TOPMed,gnomAD
rs761125973	p.Ile497Val	missense variant	-	NC_000022.11:g.36314210T>C	ExAC,gnomAD
RCV000722990	p.Glu498Lys	missense variant	-	NC_000022.11:g.36314207C>T	ClinVar
rs374837768	p.Ile502Val	missense variant	-	NC_000022.11:g.36314195T>C	ESP,ExAC,TOPMed,gnomAD
rs1374509912	p.Asp503Asn	missense variant	-	NC_000022.11:g.36314192C>T	gnomAD
COSM6161833	p.Asp507His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36314180C>G	NCI-TCGA Cosmic
rs377410439	p.Asp507Asn	missense variant	-	NC_000022.11:g.36314180C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu508Met	missense variant	-	NC_000022.11:g.36314177G>T	NCI-TCGA
rs568228938	p.Ile512Val	missense variant	-	NC_000022.11:g.36314165T>C	1000Genomes,ExAC,gnomAD
rs886057484	p.Asp513Glu	missense variant	-	NC_000022.11:g.36314160G>T	-
RCV000352451	p.Asp513Glu	missense variant	MYH9-related disorder	NC_000022.11:g.36314160G>T	ClinVar
rs375899392	p.Asp513Asn	missense variant	-	NC_000022.11:g.36314162C>T	ESP,ExAC,TOPMed,gnomAD
RCV000295267	p.Asp513Glu	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36314160G>T	ClinVar
NCI-TCGA novel	p.Leu514Pro	missense variant	-	NC_000022.11:g.36314158A>G	NCI-TCGA
rs1266169478	p.Ala519Val	missense variant	-	NC_000022.11:g.36312221G>A	TOPMed
rs1452533167	p.Pro521Thr	missense variant	-	NC_000022.11:g.36312216G>T	gnomAD
COSM3842609	p.Pro522Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312212G>A	NCI-TCGA Cosmic
rs1222055540	p.Ile524Val	missense variant	-	NC_000022.11:g.36312207T>C	TOPMed
COSM1308127	p.Leu525Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312204G>C	NCI-TCGA Cosmic
COSM4103835	p.Ala526Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312200G>A	NCI-TCGA Cosmic
COSM6095059	p.Asp529Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312192C>A	NCI-TCGA Cosmic
COSM245867	p.Glu530Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312189C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu531Ter	stop gained	-	NC_000022.11:g.36312186C>A	NCI-TCGA
NCI-TCGA novel	p.Lys536Asn	missense variant	-	NC_000022.11:g.36312169T>G	NCI-TCGA
COSM1216259	p.Asp539Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312162C>T	NCI-TCGA Cosmic
rs888907032	p.Asp539His	missense variant	-	NC_000022.11:g.36312162C>G	TOPMed,gnomAD
rs888907032	p.Asp539Tyr	missense variant	-	NC_000022.11:g.36312162C>A	TOPMed,gnomAD
rs1286138433	p.Lys540Arg	missense variant	-	NC_000022.11:g.36312158T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Glu544Ter	stop gained	-	NC_000022.11:g.36312147C>A	NCI-TCGA
NCI-TCGA novel	p.Glu544Asp	missense variant	-	NC_000022.11:g.36312145C>A	NCI-TCGA
rs376395196	p.Val546Met	missense variant	-	NC_000022.11:g.36312141C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln548Leu	missense variant	-	NC_000022.11:g.36312134T>A	NCI-TCGA
rs1343411512	p.Gln550Ter	stop gained	-	NC_000022.11:g.36312129G>A	gnomAD
rs1258173006	p.Gly551Arg	missense variant	-	NC_000022.11:g.36312126C>G	gnomAD
rs1234360640	p.Thr552Ile	missense variant	-	NC_000022.11:g.36312122G>A	gnomAD
COSM6095060	p.Pro554Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312117G>T	NCI-TCGA Cosmic
rs1304469257	p.Pro554Ser	missense variant	-	NC_000022.11:g.36312117G>A	gnomAD
rs764746351	p.Phe556Leu	missense variant	-	NC_000022.11:g.36312109G>C	ExAC,gnomAD
COSM4103834	p.Gln561His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36312094C>A	NCI-TCGA Cosmic
rs1285851674	p.Lys565Arg	missense variant	-	NC_000022.11:g.36312083T>C	TOPMed
NCI-TCGA novel	p.Asp567Asn	missense variant	-	NC_000022.11:g.36312078C>T	NCI-TCGA
rs1303332766	p.Phe568Leu	missense variant	-	NC_000022.11:g.36312075A>G	gnomAD
rs1452836825	p.Ile570Val	missense variant	-	NC_000022.11:g.36312069T>C	gnomAD
rs771926023	p.Ile571Ser	missense variant	-	NC_000022.11:g.36312065A>C	ExAC,gnomAD
NCI-TCGA novel	p.Tyr573Cys	missense variant	-	NC_000022.11:g.36312059T>C	NCI-TCGA
rs1228797100	p.Gly575Ser	missense variant	-	NC_000022.11:g.36312054C>T	TOPMed
rs1479935984	p.Val577Ala	missense variant	-	NC_000022.11:g.36309395A>G	gnomAD
rs1292798556	p.Asp578Tyr	missense variant	-	NC_000022.11:g.36309393C>A	TOPMed
NCI-TCGA novel	p.Lys580Thr	missense variant	-	NC_000022.11:g.36309386T>G	NCI-TCGA
rs1373796932	p.Lys580Arg	missense variant	-	NC_000022.11:g.36309386T>C	TOPMed
rs781414941	p.Asp582Glu	missense variant	-	NC_000022.11:g.36309379G>C	ExAC,TOPMed,gnomAD
rs962645547	p.Glu583Lys	missense variant	-	NC_000022.11:g.36309378C>T	TOPMed
rs962645547	p.Glu583Lys	missense variant	-	NC_000022.11:g.36309378C>T	NCI-TCGA Cosmic
rs757636640	p.Met586Val	missense variant	-	NC_000022.11:g.36309369T>C	ExAC,gnomAD
NCI-TCGA novel	p.Asp590Gly	missense variant	-	NC_000022.11:g.36309356T>C	NCI-TCGA
COSM726448	p.Asn593Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36309346A>C	NCI-TCGA Cosmic
rs1392989079	p.Asp594Gly	missense variant	-	NC_000022.11:g.36309344T>C	gnomAD
rs1218251906	p.Ile596Val	missense variant	-	NC_000022.11:g.36309339T>C	TOPMed,gnomAD
rs753422577	p.Ala597Thr	missense variant	-	NC_000022.11:g.36309336C>T	ExAC,gnomAD
COSM4817441	p.Ser604Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36309314G>A	NCI-TCGA Cosmic
rs559651078	p.Ser604Pro	missense variant	-	NC_000022.11:g.36309315A>G	1000Genomes
NCI-TCGA novel	p.Asp605His	missense variant	-	NC_000022.11:g.36309312C>G	NCI-TCGA
rs896335377	p.Asp605Glu	missense variant	-	NC_000022.11:g.36309310G>C	TOPMed,gnomAD
rs750091087	p.Ser609Leu	missense variant	-	NC_000022.11:g.36309299G>A	NCI-TCGA,NCI-TCGA Cosmic
rs750091087	p.Ser609Leu	missense variant	-	NC_000022.11:g.36309299G>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys613Asn	missense variant	-	NC_000022.11:g.36309286C>A	NCI-TCGA
rs1452906166	p.Val615Met	missense variant	-	NC_000022.11:g.36309282C>T	gnomAD
rs1212140955	p.Val615Ala	missense variant	-	NC_000022.11:g.36306607A>G	TOPMed,gnomAD
rs1212140955	p.Val615Gly	missense variant	-	NC_000022.11:g.36306607A>C	TOPMed,gnomAD
rs747144646	p.Arg617Cys	missense variant	-	NC_000022.11:g.36306602G>A	ExAC,gnomAD
rs151240427	p.Arg617His	missense variant	-	NC_000022.11:g.36306601C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1327289053	p.Ile618Phe	missense variant	-	NC_000022.11:g.36306599T>A	gnomAD
rs779544457	p.Ile619Val	missense variant	-	NC_000022.11:g.36306596T>C	ExAC,gnomAD
rs529696501	p.Asp622Glu	missense variant	-	NC_000022.11:g.36306585G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs751142413	p.Val624Met	missense variant	-	NC_000022.11:g.36306581C>T	ExAC,TOPMed,gnomAD
rs376240562	p.Ala625Val	missense variant	-	NC_000022.11:g.36306577G>A	ESP,ExAC,gnomAD
rs376240562	p.Ala625Gly	missense variant	-	NC_000022.11:g.36306577G>C	ESP,ExAC,gnomAD
rs765127399	p.Gly626Asp	missense variant	-	NC_000022.11:g.36306574C>T	ExAC,TOPMed,gnomAD
rs752678528	p.Gly626Ser	missense variant	-	NC_000022.11:g.36306575C>T	ExAC,TOPMed,gnomAD
rs563928943	p.Met627Ile	missense variant	-	NC_000022.11:g.36306570C>T	ExAC,gnomAD
rs759344915	p.Met627Val	missense variant	-	NC_000022.11:g.36306572T>C	ExAC,gnomAD
rs766302946	p.Ser628Leu	missense variant	-	NC_000022.11:g.36306568G>A	ExAC,gnomAD
rs773559295	p.Glu629Gln	missense variant	-	NC_000022.11:g.36306566C>G	ExAC
rs1186383756	p.Thr630Ile	missense variant	-	NC_000022.11:g.36306562G>A	gnomAD
rs200546575	p.Ala631Thr	missense variant	-	NC_000022.11:g.36306560C>T	1000Genomes,TOPMed,gnomAD
rs774818812	p.Leu632Met	missense variant	-	NC_000022.11:g.36306557G>T	ExAC,gnomAD
rs1164585870	p.Pro633Leu	missense variant	-	NC_000022.11:g.36306553G>A	TOPMed
rs560237482	p.Gly634Arg	missense variant	-	NC_000022.11:g.36306551C>T	ExAC,TOPMed,gnomAD
rs1034580397	p.Ala635Ser	missense variant	-	NC_000022.11:g.36306548C>A	TOPMed
NCI-TCGA novel	p.Phe636Val	missense variant	-	NC_000022.11:g.36306545A>C	NCI-TCGA
NCI-TCGA novel	p.Phe636Leu	inframe deletion	-	NC_000022.11:g.36306532_36306543TTCCGCGTCTTG>-	NCI-TCGA
rs770339677	p.Thr638Met	missense variant	-	NC_000022.11:g.36306538G>A	ExAC,gnomAD
rs770339677	p.Thr638Lys	missense variant	-	NC_000022.11:g.36306538G>T	ExAC,gnomAD
COSM726449	p.Arg639Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36306535C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg639Trp	missense variant	-	NC_000022.11:g.36306536G>A	NCI-TCGA
NCI-TCGA novel	p.Phe643LeuPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36306518_36306524TGCGGAA>-	NCI-TCGA
rs1349969983	p.Arg644Cys	missense variant	-	NC_000022.11:g.36306521G>A	TOPMed
COSM4752846	p.Gly647Trp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36306512C>A	NCI-TCGA Cosmic
rs971652837	p.Tyr650Cys	missense variant	-	NC_000022.11:g.36306502T>C	TOPMed,gnomAD
rs1024361841	p.Lys656Arg	missense variant	-	NC_000022.11:g.36306484T>C	TOPMed,gnomAD
rs1389534696	p.Thr660Met	missense variant	-	NC_000022.11:g.36306472G>A	gnomAD
rs760820049	p.Thr664Met	missense variant	-	NC_000022.11:g.36306460G>A	ExAC,TOPMed,gnomAD
rs1482446350	p.Pro666Ala	missense variant	-	NC_000022.11:g.36306455G>C	TOPMed
rs575821361	p.Asn667Thr	missense variant	-	NC_000022.11:g.36306451T>G	1000Genomes,ExAC,TOPMed,gnomAD
COSM1033846	p.Arg670Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36306443G>A	NCI-TCGA Cosmic
rs1181607328	p.Glu677Lys	missense variant	-	NC_000022.11:g.36306422C>T	TOPMed
rs1220725450	p.Lys678Arg	missense variant	-	NC_000022.11:g.36306418T>C	gnomAD
RCV000425185	p.Gly681Ser	missense variant	-	NC_000022.11:g.36306048C>T	ClinVar
rs145241551	p.Gly681Ser	missense variant	-	NC_000022.11:g.36306048C>T	ESP,ExAC,TOPMed,gnomAD
rs145241551	p.Gly681Cys	missense variant	-	NC_000022.11:g.36306048C>A	ESP,ExAC,TOPMed,gnomAD
rs1180042238	p.Pro685Ser	missense variant	-	NC_000022.11:g.36306036G>A	gnomAD
rs779853972	p.Pro685Leu	missense variant	-	NC_000022.11:g.36306035G>A	ExAC,TOPMed,gnomAD
rs779853972	p.Pro685Gln	missense variant	-	NC_000022.11:g.36306035G>T	ExAC,TOPMed,gnomAD
rs1200383147	p.His686Tyr	missense variant	-	NC_000022.11:g.36306033G>A	gnomAD
rs745729891	p.Leu687Phe	missense variant	-	NC_000022.11:g.36306030G>A	ExAC
rs757396174	p.Val688Met	missense variant	-	NC_000022.11:g.36306027C>T	ExAC,TOPMed,gnomAD
rs1328005977	p.Asp690Gly	missense variant	-	NC_000022.11:g.36306020T>C	gnomAD
RCV000603024	p.Arg693Cys	missense variant	-	NC_000022.11:g.36306012G>A	ClinVar
rs764189836	p.Arg693His	missense variant	-	NC_000022.11:g.36306011C>T	ExAC,TOPMed,gnomAD
rs751852988	p.Arg693Cys	missense variant	-	NC_000022.11:g.36306012G>A	ExAC,TOPMed,gnomAD
rs758606637	p.Asn695Ser	missense variant	-	NC_000022.11:g.36306005T>C	ExAC,gnomAD
NCI-TCGA novel	p.Gly696Asp	missense variant	-	NC_000022.11:g.36306002C>T	NCI-TCGA
NCI-TCGA novel	p.Gly696Ser	missense variant	-	NC_000022.11:g.36306003C>T	NCI-TCGA
rs560395577	p.Ile701Met	missense variant	-	NC_000022.11:g.36305986G>C	1000Genomes
RCV000851738	p.Arg702His	missense variant	MYH9-related disorder	NC_000022.11:g.36305984C>T	ClinVar
RCV000015129	p.Arg702Cys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305985G>A	ClinVar
RCV000790354	p.Arg702Cys	missense variant	MYH9-related disorder	NC_000022.11:g.36305985G>A	ClinVar
rs80338826	p.Arg702Cys	missense variant	-	NC_000022.11:g.36305985G>A	-
rs80338826	p.Arg702Cys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305985G>A	UniProt,dbSNP
VAR_010792	p.Arg702Cys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305985G>A	UniProt
rs80338827	p.Arg702His	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305984C>T	UniProt,dbSNP
VAR_018311	p.Arg702His	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305984C>T	UniProt
rs80338827	p.Arg702His	missense variant	-	NC_000022.11:g.36305984C>T	-
RCV000523446	p.Arg702Cys	missense variant	-	NC_000022.11:g.36305985G>A	ClinVar
rs80338828	p.Arg705His	missense variant	-	NC_000022.11:g.36305975C>T	-
rs80338828	p.Arg705His	missense variant	Deafness, autosomal dominant, 17 (DFNA17)	NC_000022.11:g.36305975C>T	UniProt,dbSNP
VAR_010793	p.Arg705His	missense variant	Deafness, autosomal dominant, 17 (DFNA17)	NC_000022.11:g.36305975C>T	UniProt
RCV000015130	p.Arg705His	missense variant	Deafness, autosomal dominant nonsyndromic sensorineural 17 (DFNA17)	NC_000022.11:g.36305975C>T	ClinVar
RCV000032218	p.Arg705His	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36305975C>T	ClinVar
NCI-TCGA novel	p.Gln706Ter	stop gained	-	NC_000022.11:g.36305973G>A	NCI-TCGA
rs1310965766	p.Pro709Ser	missense variant	-	NC_000022.11:g.36305964G>A	TOPMed
NCI-TCGA novel	p.Asn710ThrPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36305962G>-	NCI-TCGA
rs1364444432	p.Asn710Ser	missense variant	-	NC_000022.11:g.36305960T>C	gnomAD
NCI-TCGA novel	p.Val712Glu	missense variant	-	NC_000022.11:g.36305954A>T	NCI-TCGA
rs773875063	p.Val713Ile	missense variant	-	NC_000022.11:g.36305952C>T	ExAC,gnomAD
rs1464713086	p.Arg718Gln	missense variant	-	NC_000022.11:g.36305936C>T	gnomAD
rs1184544985	p.Arg718Trp	missense variant	-	NC_000022.11:g.36305937G>A	gnomAD
rs1464713086	p.Arg718Leu	missense variant	-	NC_000022.11:g.36305936C>A	gnomAD
rs1272425560	p.Gln719Glu	missense variant	-	NC_000022.11:g.36305934G>C	TOPMed
rs1308156097	p.Glu722Lys	missense variant	-	NC_000022.11:g.36305098C>T	TOPMed
NCI-TCGA novel	p.Pro726Ser	missense variant	-	NC_000022.11:g.36305086G>A	NCI-TCGA
rs1388737281	p.Pro726Ala	missense variant	-	NC_000022.11:g.36305086G>C	gnomAD
rs371833667	p.Ser728Cys	missense variant	-	NC_000022.11:g.36305079G>C	ESP
rs779077719	p.Lys731Asn	missense variant	-	NC_000022.11:g.36305069C>G	ExAC,gnomAD
rs1475932323	p.Lys731Arg	missense variant	-	NC_000022.11:g.36305070T>C	gnomAD
rs1196300709	p.Gly732Asp	missense variant	-	NC_000022.11:g.36305067C>T	gnomAD
rs957338981	p.Gly732Ser	missense variant	-	NC_000022.11:g.36305068C>T	TOPMed
rs754226657	p.Gly736Arg	missense variant	-	NC_000022.11:g.36305056C>T	ExAC,gnomAD
COSM5611448	p.Gln738Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36305050G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala739Thr	missense variant	-	NC_000022.11:g.36305047C>T	NCI-TCGA
rs368367291	p.Ala739Val	missense variant	-	NC_000022.11:g.36305046G>A	ESP,ExAC,TOPMed,gnomAD
rs140032888	p.Val741Met	missense variant	-	NC_000022.11:g.36305041C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1177728611	p.Ala746Ser	missense variant	-	NC_000022.11:g.36304149C>A	gnomAD
rs1472400866	p.Ala746Asp	missense variant	-	NC_000022.11:g.36304148G>T	TOPMed,gnomAD
rs1472400866	p.Ala746Val	missense variant	-	NC_000022.11:g.36304148G>A	TOPMed,gnomAD
COSM1308126	p.Asp750His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36304137C>G	NCI-TCGA Cosmic
rs1358930244	p.Asn752His	missense variant	-	NC_000022.11:g.36304131T>G	TOPMed
rs768721880	p.Arg755Cys	missense variant	-	NC_000022.11:g.36304122G>A	ExAC,gnomAD
rs769495712	p.Ile756Thr	missense variant	-	NC_000022.11:g.36304118A>G	ExAC,TOPMed,gnomAD
rs937636221	p.Ile756Leu	missense variant	-	NC_000022.11:g.36304119T>G	TOPMed,gnomAD
rs937636221	p.Ile756Val	missense variant	-	NC_000022.11:g.36304119T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Phe762Leu	missense variant	-	NC_000022.11:g.36304099G>C	NCI-TCGA
rs1356205630	p.Phe763Val	missense variant	-	NC_000022.11:g.36304098A>C	gnomAD
rs770092510	p.Phe763Leu	missense variant	-	NC_000022.11:g.36304096G>C	ExAC,gnomAD
rs1282922939	p.Phe763Cys	missense variant	-	NC_000022.11:g.36304097A>C	TOPMed,gnomAD
rs1383986403	p.Arg764Cys	missense variant	-	NC_000022.11:g.36304095G>A	gnomAD
rs746272927	p.Arg764Pro	missense variant	-	NC_000022.11:g.36304094C>G	ExAC,TOPMed,gnomAD
rs746272927	p.Arg764His	missense variant	-	NC_000022.11:g.36304094C>T	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala765LeuPheSerTerUnkUnkUnk	frameshift	-	NC_000022.11:g.36304092_36304093insACGGAAG	NCI-TCGA
NCI-TCGA novel	p.Gly766Asp	missense variant	-	NC_000022.11:g.36304088C>T	NCI-TCGA
rs757850500	p.Gly766Ser	missense variant	-	NC_000022.11:g.36304089C>T	ExAC,gnomAD
rs757850500	p.Gly766Arg	missense variant	-	NC_000022.11:g.36304089C>G	ExAC,gnomAD
rs1168825871	p.Val767Met	missense variant	-	NC_000022.11:g.36304086C>T	TOPMed
COSM1416056	p.Ala769Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36304080C>T	NCI-TCGA Cosmic
rs1302034883	p.His770Asp	missense variant	-	NC_000022.11:g.36304077G>C	gnomAD
NCI-TCGA novel	p.Glu772Lys	missense variant	-	NC_000022.11:g.36304071C>T	NCI-TCGA
rs778631810	p.Glu774Gly	missense variant	-	NC_000022.11:g.36304064T>C	ExAC,gnomAD
rs1390002402	p.Glu774Lys	missense variant	-	NC_000022.11:g.36304065C>T	TOPMed
rs1411583227	p.Arg775Gln	missense variant	-	NC_000022.11:g.36304061C>T	gnomAD
COSM1033844	p.Asp776Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36304059C>A	NCI-TCGA Cosmic
COSM4103832	p.Lys778Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36304052T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys778Asn	missense variant	-	NC_000022.11:g.36304051C>G	NCI-TCGA
rs1328642771	p.Thr780Asn	missense variant	-	NC_000022.11:g.36304046G>T	TOPMed
rs143290101	p.Asp781Glu	missense variant	-	NC_000022.11:g.36304042G>C	ESP,ExAC,TOPMed,gnomAD
rs766088687	p.Asp781Asn	missense variant	-	NC_000022.11:g.36304044C>T	ExAC,gnomAD
rs139966058	p.Val782Ile	missense variant	-	NC_000022.11:g.36304041C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs761808742	p.Ile783Val	missense variant	-	NC_000022.11:g.36304038T>C	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ile784Ter	frameshift	-	NC_000022.11:g.36304036G>-	NCI-TCGA
rs1288434900	p.Ile784Thr	missense variant	-	NC_000022.11:g.36304034A>G	gnomAD
rs764202808	p.Ile784Val	missense variant	-	NC_000022.11:g.36304035T>C	ExAC,gnomAD
rs762985813	p.Ile784Met	missense variant	-	NC_000022.11:g.36304033T>C	ExAC,gnomAD
rs1360639678	p.Gln787Lys	missense variant	-	NC_000022.11:g.36304026G>T	gnomAD
rs775388995	p.Ala788Thr	missense variant	-	NC_000022.11:g.36304023C>T	ExAC,TOPMed,gnomAD
rs1481570838	p.Cys789Tyr	missense variant	-	NC_000022.11:g.36304019C>T	gnomAD
rs1277008210	p.Cys789Arg	missense variant	-	NC_000022.11:g.36304020A>G	TOPMed
rs1225748629	p.Cys790Tyr	missense variant	-	NC_000022.11:g.36304016C>T	gnomAD
rs1363695227	p.Gly792Ala	missense variant	-	NC_000022.11:g.36304010C>G	gnomAD
rs770074508	p.Gly792Ser	missense variant	-	NC_000022.11:g.36304011C>T	ExAC
rs374505336	p.Ala795Ser	missense variant	-	NC_000022.11:g.36304002C>A	ESP
rs1252181324	p.Ala798Val	missense variant	-	NC_000022.11:g.36302674G>A	gnomAD
rs1481830546	p.Ala798Thr	missense variant	-	NC_000022.11:g.36302675C>T	gnomAD
rs780787641	p.Ala800Ser	missense variant	-	NC_000022.11:g.36302669C>A	ExAC,TOPMed,gnomAD
rs756860325	p.Ala800Val	missense variant	-	NC_000022.11:g.36302668G>A	ExAC,TOPMed,gnomAD
rs777484384	p.Lys801Asn	missense variant	-	NC_000022.11:g.36302664C>A	ExAC,gnomAD
COSM726450	p.Arg802Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36302662C>A	NCI-TCGA Cosmic
rs765414397	p.Arg802Gln	missense variant	-	NC_000022.11:g.36302662C>T	ExAC,gnomAD
rs548123125	p.Arg802Trp	missense variant	-	NC_000022.11:g.36302663G>A	1000Genomes,ExAC,TOPMed,gnomAD
COSM4103831	p.Gln803Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36302659T>C	NCI-TCGA Cosmic
rs1285650243	p.Gln805His	missense variant	-	NC_000022.11:g.36302652C>A	TOPMed
rs1487827633	p.Leu806Arg	missense variant	-	NC_000022.11:g.36302650A>C	TOPMed
rs1428269826	p.Thr807Ala	missense variant	-	NC_000022.11:g.36302648T>C	gnomAD
rs201967008	p.Ala808Ser	missense variant	-	NC_000022.11:g.36302645C>A	ExAC,gnomAD
rs201967008	p.Ala808Thr	missense variant	-	NC_000022.11:g.36302645C>T	ExAC,gnomAD
rs766731617	p.Met809Leu	missense variant	-	NC_000022.11:g.36302642T>A	ExAC,gnomAD
rs1270895418	p.Met809Ile	missense variant	-	NC_000022.11:g.36302640C>T	TOPMed
rs1464332684	p.Lys810Thr	missense variant	-	NC_000022.11:g.36302638T>G	gnomAD
VAR_036006	p.Lys810Asn	Missense	-	-	UniProt
NCI-TCGA novel	p.Leu812Ile	missense variant	-	NC_000022.11:g.36302633G>T	NCI-TCGA
rs760924443	p.Arg814Gln	missense variant	-	NC_000022.11:g.36302626C>T	ExAC,gnomAD
rs528027573	p.Ala817Thr	missense variant	-	NC_000022.11:g.36302618C>T	ExAC,TOPMed,gnomAD
rs528027573	p.Ala817Ser	missense variant	-	NC_000022.11:g.36302618C>A	ExAC,TOPMed,gnomAD
rs565554438	p.Ala818Thr	missense variant	-	NC_000022.11:g.36302615C>T	1000Genomes,ExAC,gnomAD
rs1156433277	p.Gln826Arg	missense variant	-	NC_000022.11:g.36302590T>C	TOPMed
NCI-TCGA novel	p.Lys833Asn	missense variant	-	NC_000022.11:g.36302568C>A	NCI-TCGA
rs1436399558	p.Lys833Arg	missense variant	-	NC_000022.11:g.36302569T>C	TOPMed
rs924955378	p.Arg842Gln	missense variant	-	NC_000022.11:g.36301640C>T	TOPMed
rs1385755065	p.Arg842Trp	missense variant	-	NC_000022.11:g.36301641G>A	gnomAD
rs144633299	p.Gln843Arg	missense variant	-	NC_000022.11:g.36301637T>C	ESP,TOPMed
rs770422754	p.Met847Val	missense variant	-	NC_000022.11:g.36301626T>C	ExAC,gnomAD
NCI-TCGA novel	p.Lys850Asn	missense variant	-	NC_000022.11:g.36301615C>A	NCI-TCGA
rs1164560286	p.Glu851Val	missense variant	-	NC_000022.11:g.36301613T>A	gnomAD
rs1348678369	p.Val855Met	missense variant	-	NC_000022.11:g.36301602C>T	TOPMed
rs1348678369	p.Val855Leu	missense variant	-	NC_000022.11:g.36301602C>A	TOPMed
rs888923106	p.Lys856Thr	missense variant	-	NC_000022.11:g.36301598T>G	gnomAD
rs1379313955	p.Val857Ile	missense variant	-	NC_000022.11:g.36301596C>T	TOPMed
COSM1308125	p.Arg858Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36301592C>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Arg858Lys	missense variant	-	NC_000022.11:g.36301592C>T	NCI-TCGA
COSM3842607	p.Glu859Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36301589T>A	NCI-TCGA Cosmic
COSM3842606	p.Glu859Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36301588C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu859Leu	insertion	-	NC_000022.11:g.36301587_36301588insGAG	NCI-TCGA
rs747918904	p.Gln861Arg	missense variant	-	NC_000022.11:g.36301583T>C	ExAC,gnomAD
rs371397198	p.Gln861His	missense variant	-	NC_000022.11:g.36301582C>G	ESP,ExAC,TOPMed,gnomAD
rs1308862965	p.Ala863Ser	missense variant	-	NC_000022.11:g.36301578C>A	TOPMed
rs142467329	p.Ala864Val	missense variant	-	NC_000022.11:g.36301574G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1349640219	p.Ala864Ser	missense variant	-	NC_000022.11:g.36301575C>A	TOPMed
rs780342410	p.Glu865Gln	missense variant	-	NC_000022.11:g.36301572C>G	ExAC,gnomAD
rs756244209	p.Glu865Gly	missense variant	-	NC_000022.11:g.36301571T>C	ExAC
RCV000262620	p.Asn866Lys	missense variant	MYH9-related disorder	NC_000022.11:g.36301567G>C	ClinVar
rs750718366	p.Asn866Lys	missense variant	-	NC_000022.11:g.36301567G>C	ExAC,TOPMed,gnomAD
rs1268708387	p.Asn866Ser	missense variant	-	NC_000022.11:g.36301568T>C	gnomAD
RCV000359728	p.Asn866Lys	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36301567G>C	ClinVar
rs757448185	p.Thr869Met	missense variant	-	NC_000022.11:g.36301559G>A	ExAC,TOPMed,gnomAD
rs757448185	p.Thr869Arg	missense variant	-	NC_000022.11:g.36301559G>C	ExAC,TOPMed,gnomAD
rs757448185	p.Thr869Lys	missense variant	-	NC_000022.11:g.36301559G>T	ExAC,TOPMed,gnomAD
rs1462730594	p.Glu870Lys	missense variant	-	NC_000022.11:g.36301557C>T	gnomAD
rs1374971545	p.Met871Leu	missense variant	-	NC_000022.11:g.36301554T>A	gnomAD
rs764450747	p.Thr873Ala	missense variant	-	NC_000022.11:g.36301548T>C	ExAC,gnomAD
rs763516009	p.Thr873Met	missense variant	-	NC_000022.11:g.36301547G>A	ExAC,TOPMed,gnomAD
COSM419569	p.Gln877Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36301536G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Gln877Arg	missense variant	-	NC_000022.11:g.36301535T>C	NCI-TCGA
RCV000306348	p.Met879Leu	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36301054T>G	ClinVar
RCV000151342	p.Met879Leu	missense variant	-	NC_000022.11:g.36301054T>G	ClinVar
rs200328859	p.Met879Leu	missense variant	-	NC_000022.11:g.36301054T>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000344830	p.Met879Leu	missense variant	MYH9-related disorder	NC_000022.11:g.36301054T>G	ClinVar
rs1281759953	p.Met879Thr	missense variant	-	NC_000022.11:g.36301053A>G	gnomAD
rs200328859	p.Met879Val	missense variant	-	NC_000022.11:g.36301054T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala880Glu	missense variant	-	NC_000022.11:g.36301050G>T	NCI-TCGA
rs1240283327	p.Ala880Thr	missense variant	-	NC_000022.11:g.36301051C>T	gnomAD
rs1236627285	p.Ala880Val	missense variant	-	NC_000022.11:g.36301050G>A	TOPMed
NCI-TCGA novel	p.Glu881Asp	missense variant	-	NC_000022.11:g.36301046C>A	NCI-TCGA
rs1226164291	p.Lys882Arg	missense variant	-	NC_000022.11:g.36301044T>C	gnomAD
rs1316967947	p.Gln888His	missense variant	-	NC_000022.11:g.36301025C>A	TOPMed,gnomAD
rs745736187	p.Gln888Glu	missense variant	-	NC_000022.11:g.36301027G>C	ExAC,gnomAD
rs1398419087	p.Gln890Glu	missense variant	-	NC_000022.11:g.36301021G>C	gnomAD
rs1472348578	p.Glu894Lys	missense variant	-	NC_000022.11:g.36301009C>T	gnomAD
rs1462795072	p.Glu898Lys	missense variant	-	NC_000022.11:g.36300997C>T	gnomAD
rs1243945044	p.Glu898Asp	missense variant	-	NC_000022.11:g.36300995C>G	gnomAD
rs1215219107	p.Arg903Gln	missense variant	-	NC_000022.11:g.36300981C>T	gnomAD
RCV000765635	p.Arg905His	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36300975C>T	ClinVar
rs377115843	p.Arg905Cys	missense variant	-	NC_000022.11:g.36300976G>A	ESP,ExAC,TOPMed,gnomAD
rs727503289	p.Arg905His	missense variant	-	NC_000022.11:g.36300975C>T	ExAC,gnomAD
RCV000151340	p.Arg905His	missense variant	-	NC_000022.11:g.36300975C>T	ClinVar
RCV000600513	p.Thr907Ala	missense variant	-	NC_000022.11:g.36300970T>C	ClinVar
rs754354210	p.Thr907Ala	missense variant	-	NC_000022.11:g.36300970T>C	ExAC,TOPMed,gnomAD
rs766982816	p.Thr907Ile	missense variant	-	NC_000022.11:g.36300969G>A	ExAC,gnomAD
rs150177079	p.Ala908Thr	missense variant	-	NC_000022.11:g.36300967C>T	ESP,ExAC,TOPMed,gnomAD
rs554332083	p.Lys910Gln	missense variant	-	NC_000022.11:g.36300961T>G	1000Genomes,ExAC,gnomAD
rs554332083	p.Lys910Gln	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36300961T>G	UniProt,dbSNP
VAR_044226	p.Lys910Gln	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36300961T>G	UniProt
COSM444939	p.Glu912Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300953T>G	NCI-TCGA Cosmic
COSM3800178	p.Glu915Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300946C>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu915Ter	stop gained	-	NC_000022.11:g.36300946C>A	NCI-TCGA
rs1318910548	p.Asp919Asn	missense variant	-	NC_000022.11:g.36300934C>T	gnomAD
rs775434135	p.Glu921Lys	missense variant	-	NC_000022.11:g.36300928C>T	ExAC,gnomAD
rs1165284857	p.Arg923Lys	missense variant	-	NC_000022.11:g.36300921C>T	TOPMed,gnomAD
rs140933307	p.Val924Ala	missense variant	-	NC_000022.11:g.36300918A>G	ExAC,TOPMed,gnomAD
rs540698347	p.Val924Leu	missense variant	-	NC_000022.11:g.36300919C>A	1000Genomes,ExAC,gnomAD
rs540698347	p.Val924Met	missense variant	-	NC_000022.11:g.36300919C>T	1000Genomes,ExAC,gnomAD
COSM1416052	p.Glu925Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300915T>A	NCI-TCGA Cosmic
rs1474469422	p.Glu926Gln	missense variant	-	NC_000022.11:g.36300913C>G	gnomAD
COSM4103829	p.Glu929Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300902C>A	NCI-TCGA Cosmic
rs727504740	p.Arg930His	missense variant	-	NC_000022.11:g.36300900C>T	ExAC,gnomAD
RCV000156038	p.Arg930His	missense variant	-	NC_000022.11:g.36300900C>T	ClinVar
rs1318665432	p.Gln932Arg	missense variant	-	NC_000022.11:g.36300894T>C	TOPMed
rs773227499	p.Ala936Val	missense variant	-	NC_000022.11:g.36300882G>A	ExAC,TOPMed,gnomAD
rs368994508	p.Lys939Glu	missense variant	-	NC_000022.11:g.36300874T>C	ESP,TOPMed
rs558420659	p.Lys939Arg	missense variant	-	NC_000022.11:g.36300873T>C	1000Genomes,ExAC,gnomAD
rs755311538	p.Lys940Met	missense variant	-	NC_000022.11:g.36300870T>A	ExAC,gnomAD
rs1256574392	p.Met941Leu	missense variant	-	NC_000022.11:g.36300868T>A	TOPMed
rs1170023687	p.Gln942Glu	missense variant	-	NC_000022.11:g.36300865G>C	gnomAD
rs538431419	p.Gln942His	missense variant	-	NC_000022.11:g.36300863C>G	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Gln943His	missense variant	-	NC_000022.11:g.36300860C>G	NCI-TCGA
rs1421778039	p.Ile945Thr	missense variant	-	NC_000022.11:g.36300855A>G	gnomAD
rs1157553597	p.Leu948Ile	missense variant	-	NC_000022.11:g.36300261G>T	gnomAD
rs1219581491	p.Glu953Lys	missense variant	-	NC_000022.11:g.36300246C>T	gnomAD
rs770044873	p.Glu955Lys	missense variant	-	NC_000022.11:g.36300240C>T	ExAC,gnomAD
rs781756258	p.Ser957Asn	missense variant	-	NC_000022.11:g.36300233C>T	ExAC,gnomAD
rs746428179	p.Ser957Arg	missense variant	-	NC_000022.11:g.36300234T>G	ExAC,TOPMed
rs374840260	p.Ser957Arg	missense variant	-	NC_000022.11:g.36300232G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs746428179	p.Ser957Gly	missense variant	-	NC_000022.11:g.36300234T>C	ExAC,TOPMed
RCV000726812	p.Ala958Thr	missense variant	-	NC_000022.11:g.36300231C>T	ClinVar
rs151036570	p.Ala958Thr	missense variant	-	NC_000022.11:g.36300231C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs778229923	p.Arg959Trp	missense variant	-	NC_000022.11:g.36300228G>A	ExAC,gnomAD
rs1314063310	p.Arg959Gln	missense variant	-	NC_000022.11:g.36300227C>T	TOPMed,gnomAD
rs1305976278	p.Leu964Val	missense variant	-	NC_000022.11:g.36300213G>C	gnomAD
COSM3992135	p.Glu965Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300210C>G	NCI-TCGA Cosmic
rs753419440	p.Glu965Asp	missense variant	-	NC_000022.11:g.36300208C>G	ExAC,gnomAD
rs1345299849	p.Lys966Asn	missense variant	-	NC_000022.11:g.36300205C>A	TOPMed
RCV000032219	p.Val967Glu	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36300203A>T	ClinVar
rs16996652	p.Val967Glu	missense variant	-	NC_000022.11:g.36300203A>T	gnomAD
rs16996652	p.Val967Ala	missense variant	-	NC_000022.11:g.36300203A>G	gnomAD
rs755833335	p.Thr969Ile	missense variant	-	NC_000022.11:g.36300197G>A	ExAC,gnomAD
rs761675946	p.Glu970Lys	missense variant	-	NC_000022.11:g.36300195C>T	ExAC,gnomAD
rs751639664	p.Ala971Thr	missense variant	-	NC_000022.11:g.36300192C>T	ExAC,TOPMed,gnomAD
rs199654108	p.Ala971Gly	missense variant	-	NC_000022.11:g.36300191G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs199654108	p.Ala971Val	missense variant	-	NC_000022.11:g.36300191G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs751639664	p.Ala971Ser	missense variant	-	NC_000022.11:g.36300192C>A	ExAC,TOPMed,gnomAD
rs760011069	p.Lys974Asn	missense variant	-	NC_000022.11:g.36300181T>G	ExAC,gnomAD
rs770237894	p.Lys974Gln	missense variant	-	NC_000022.11:g.36300183T>G	ExAC,gnomAD
COSM4832982	p.Glu978Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36300171C>G	NCI-TCGA Cosmic
rs1258982191	p.Glu978Lys	missense variant	-	NC_000022.11:g.36300171C>T	gnomAD
rs1488601046	p.Glu979Gly	missense variant	-	NC_000022.11:g.36300167T>C	gnomAD
COSM78996	p.Gln980Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36300165G>A	NCI-TCGA Cosmic
rs777089353	p.Gln980His	missense variant	-	NC_000022.11:g.36300163C>A	ExAC,gnomAD
rs771579189	p.Ile981Phe	missense variant	-	NC_000022.11:g.36300162T>A	ExAC,TOPMed,gnomAD
rs747453689	p.Ile981Asn	missense variant	-	NC_000022.11:g.36300161A>T	ExAC,gnomAD
rs771579189	p.Ile981Val	missense variant	-	NC_000022.11:g.36300162T>C	ExAC,TOPMed,gnomAD
rs1192579067	p.Asp985Glu	missense variant	-	NC_000022.11:g.36300148G>C	TOPMed
rs199520053	p.Gln986His	missense variant	-	NC_000022.11:g.36300145C>G	1000Genomes,ExAC,TOPMed,gnomAD
rs1422821339	p.Asn987Lys	missense variant	-	NC_000022.11:g.36300142G>C	gnomAD
rs1325954970	p.Cys988Phe	missense variant	-	NC_000022.11:g.36300140C>A	gnomAD
rs201389127	p.Lys989Gln	missense variant	-	NC_000022.11:g.36300138T>G	ESP,ExAC,TOPMed,gnomAD
rs1172070794	p.Ala991Gly	missense variant	-	NC_000022.11:g.36300131G>C	TOPMed
rs1462668384	p.Glu993Ala	missense variant	-	NC_000022.11:g.36299041T>G	TOPMed
NCI-TCGA novel	p.Lys994Asn	missense variant	-	NC_000022.11:g.36299037C>A	NCI-TCGA
rs1390409373	p.Leu996Met	missense variant	-	NC_000022.11:g.36299033G>T	TOPMed
rs1262532933	p.Ile1001Thr	missense variant	-	NC_000022.11:g.36299017A>G	gnomAD
COSM1308124	p.Glu1003Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36299012C>T	NCI-TCGA Cosmic
rs373350321	p.Phe1004Leu	missense variant	-	NC_000022.11:g.36299007G>C	ESP,ExAC,gnomAD
rs758307420	p.Thr1006Ala	missense variant	-	NC_000022.11:g.36299003T>C	ExAC,gnomAD
rs1041697352	p.Asn1007Ser	missense variant	-	NC_000022.11:g.36298999T>C	TOPMed,gnomAD
rs535649291	p.Leu1008Val	missense variant	-	NC_000022.11:g.36298997G>C	1000Genomes,ExAC,TOPMed,gnomAD
COSM1327247	p.Thr1009Ile	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36298993G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1011Gln	missense variant	-	NC_000022.11:g.36298988C>G	NCI-TCGA
rs1332967584	p.Glu1012Gln	missense variant	-	NC_000022.11:g.36298985C>G	gnomAD
COSM1308123	p.Glu1013Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36298982C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1013Lys	missense variant	-	NC_000022.11:g.36298982C>T	NCI-TCGA
NCI-TCGA novel	p.Lys1014Thr	missense variant	-	NC_000022.11:g.36298978T>G	NCI-TCGA
rs1334169478	p.Lys1016Arg	missense variant	-	NC_000022.11:g.36298972T>C	gnomAD
rs566644790	p.Ala1019Thr	missense variant	-	NC_000022.11:g.36298964C>T	1000Genomes,ExAC,gnomAD
COSM444938	p.Lys1020AsnPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36298959C>-	NCI-TCGA Cosmic
rs1468410925	p.Lys1020Thr	missense variant	-	NC_000022.11:g.36298960T>G	gnomAD
rs1365263842	p.Leu1021Phe	missense variant	-	NC_000022.11:g.36298958G>A	TOPMed,gnomAD
rs767919752	p.Lys1022Asn	missense variant	-	NC_000022.11:g.36298953C>A	ExAC
rs773575034	p.Lys1022Arg	missense variant	-	NC_000022.11:g.36298954T>C	ExAC
rs762311512	p.Asn1023Ser	missense variant	-	NC_000022.11:g.36298951T>C	ExAC,TOPMed,gnomAD
rs769284029	p.His1025Gln	missense variant	-	NC_000022.11:g.36298944A>C	ExAC,TOPMed,gnomAD
rs1279963355	p.Ala1027Glu	missense variant	-	NC_000022.11:g.36298939G>T	gnomAD
rs745573154	p.Ala1027Thr	missense variant	-	NC_000022.11:g.36298940C>T	ExAC,TOPMed,gnomAD
rs1205000981	p.Met1028Val	missense variant	-	NC_000022.11:g.36298937T>C	TOPMed,gnomAD
NCI-TCGA novel	p.Met1028Ile	missense variant	-	NC_000022.11:g.36298935C>T	NCI-TCGA
COSM478925	p.Ile1029Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36298933A>G	NCI-TCGA Cosmic
rs1349012755	p.Thr1030Ile	missense variant	-	NC_000022.11:g.36298930G>A	gnomAD
COSM1033842	p.Asp1031Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36298928C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1031Asn	missense variant	-	NC_000022.11:g.36298928C>T	NCI-TCGA
rs1311867012	p.Glu1033Gly	missense variant	-	NC_000022.11:g.36298921T>C	gnomAD
rs772948183	p.Arg1035Cys	missense variant	-	NC_000022.11:g.36297012G>A	ExAC,TOPMed,gnomAD
rs771889310	p.Arg1035His	missense variant	-	NC_000022.11:g.36297011C>T	ExAC,gnomAD
rs1205232668	p.Leu1036Phe	missense variant	-	NC_000022.11:g.36297009G>A	TOPMed
rs748075110	p.Arg1037Cys	missense variant	-	NC_000022.11:g.36297006G>A	ExAC,gnomAD
rs1194942976	p.Arg1037His	missense variant	-	NC_000022.11:g.36297005C>T	TOPMed,gnomAD
rs779024392	p.Glu1039Asp	missense variant	-	NC_000022.11:g.36296998C>G	ExAC,TOPMed,gnomAD
rs1180703933	p.Glu1040Lys	missense variant	-	NC_000022.11:g.36296997C>T	TOPMed
rs1369361478	p.Lys1041Met	missense variant	-	NC_000022.11:g.36296993T>A	TOPMed
NCI-TCGA novel	p.Lys1041Gln	missense variant	-	NC_000022.11:g.36296994T>G	NCI-TCGA
COSM4103827	p.Arg1043Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36296988G>A	NCI-TCGA Cosmic
rs957892036	p.Arg1043Leu	missense variant	-	NC_000022.11:g.36296987C>A	TOPMed
rs957892036	p.Arg1043Gln	missense variant	-	NC_000022.11:g.36296987C>T	TOPMed
RCV000372267	p.Leu1046Val	missense variant	MYH9-related disorder	NC_000022.11:g.36296979G>C	ClinVar
rs886057482	p.Leu1046Val	missense variant	-	NC_000022.11:g.36296979G>C	-
RCV000317573	p.Leu1046Val	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36296979G>C	ClinVar
rs1321987923	p.Thr1049Ala	missense variant	-	NC_000022.11:g.36296970T>C	gnomAD
rs768664061	p.Arg1050His	missense variant	-	NC_000022.11:g.36296966C>T	ExAC,gnomAD
rs1319309604	p.Arg1051Trp	missense variant	-	NC_000022.11:g.36296964G>A	gnomAD
rs749390875	p.Arg1051Gln	missense variant	-	NC_000022.11:g.36296963C>T	ExAC,TOPMed,gnomAD
rs1343443370	p.Asp1056Tyr	missense variant	-	NC_000022.11:g.36296949C>A	gnomAD
rs756355713	p.Ser1057Tyr	missense variant	-	NC_000022.11:g.36296945G>T	ExAC,gnomAD
rs56767084	p.Leu1060Phe	missense variant	-	NC_000022.11:g.36296937G>A	ExAC
rs199971000	p.Ser1061Cys	missense variant	-	NC_000022.11:g.36296934T>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1328427147	p.Ser1061Asn	missense variant	-	NC_000022.11:g.36296933C>T	gnomAD
rs1323058824	p.Asp1062Val	missense variant	-	NC_000022.11:g.36296930T>A	gnomAD
rs368438600	p.Asp1062Asn	missense variant	-	NC_000022.11:g.36296931C>T	ESP,ExAC,TOPMed,gnomAD
rs147911658	p.Ile1064Phe	missense variant	-	NC_000022.11:g.36296925T>A	ESP,ExAC,gnomAD
rs1423642805	p.Ala1065Thr	missense variant	-	NC_000022.11:g.36296922C>T	gnomAD
VAR_044228	p.Glu1066_Ala1072del	inframe_deletion	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]	-	UniProt
rs1201940713	p.Gln1070His	missense variant	-	NC_000022.11:g.36296905C>A	gnomAD
RCV000213761	p.Ala1072Thr	missense variant	-	NC_000022.11:g.36296901C>T	ClinVar
rs1556631812	p.Ala1072Val	missense variant	-	NC_000022.11:g.36296900G>A	-
rs532156048	p.Ala1072Thr	missense variant	-	NC_000022.11:g.36296901C>T	1000Genomes,ExAC,TOPMed,gnomAD
RCV000609396	p.Ala1072Val	missense variant	-	NC_000022.11:g.36296900G>A	ClinVar
rs1372257019	p.Lys1075Glu	missense variant	-	NC_000022.11:g.36296892T>C	gnomAD
rs1408801802	p.Lys1075Arg	missense variant	-	NC_000022.11:g.36296891T>C	gnomAD
rs749228893	p.Met1076Ile	missense variant	-	NC_000022.11:g.36296887C>G	ExAC,TOPMed,gnomAD
rs1444773585	p.Gln1077Glu	missense variant	-	NC_000022.11:g.36296886G>C	gnomAD
rs1178789950	p.Ala1088Thr	missense variant	-	NC_000022.11:g.36296853C>T	TOPMed,gnomAD
rs781510274	p.Ala1088Val	missense variant	-	NC_000022.11:g.36296852G>A	ExAC,gnomAD
rs757376268	p.Ala1090Ser	missense variant	-	NC_000022.11:g.36296847C>A	ExAC,TOPMed,gnomAD
rs1176433838	p.Ala1090Asp	missense variant	-	NC_000022.11:g.36296846G>T	gnomAD
rs1171062797	p.Arg1091Gly	missense variant	-	NC_000022.11:g.36296844T>C	TOPMed
rs758742337	p.Arg1091Ser	missense variant	-	NC_000022.11:g.36295717T>G	ExAC,gnomAD
rs748470952	p.Val1092Met	missense variant	-	NC_000022.11:g.36295716C>T	ExAC,gnomAD
rs1314994311	p.Val1092Ala	missense variant	-	NC_000022.11:g.36295715A>G	gnomAD
rs1314994311	p.Val1092Gly	missense variant	-	NC_000022.11:g.36295715A>C	gnomAD
NCI-TCGA novel	p.Glu1094Gln	missense variant	-	NC_000022.11:g.36295710C>G	NCI-TCGA
rs1200330335	p.Glu1094Asp	missense variant	-	NC_000022.11:g.36295708C>G	TOPMed
rs755381871	p.Ala1096Val	missense variant	-	NC_000022.11:g.36295703G>A	ExAC,gnomAD
rs766927990	p.Ala1097Asp	missense variant	-	NC_000022.11:g.36295700G>T	ExAC,gnomAD
rs1162561119	p.Met1101Ile	missense variant	-	NC_000022.11:g.36295687C>T	gnomAD
rs1173949966	p.Ala1102Val	missense variant	-	NC_000022.11:g.36295685G>A	TOPMed
rs1358412751	p.Lys1104Arg	missense variant	-	NC_000022.11:g.36295679T>C	TOPMed
rs1456021815	p.Ile1106Val	missense variant	-	NC_000022.11:g.36295674T>C	gnomAD
rs757024922	p.Ile1106Thr	missense variant	-	NC_000022.11:g.36295673A>G	ExAC,TOPMed,gnomAD
RCV000360226	p.Arg1107Gln	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36295670C>T	ClinVar
RCV000324164	p.Arg1107Gln	missense variant	MYH9-related disorder	NC_000022.11:g.36295670C>T	ClinVar
rs137924205	p.Arg1107Gln	missense variant	-	NC_000022.11:g.36295670C>T	ESP,ExAC,TOPMed,gnomAD
rs1164923293	p.Arg1107Trp	missense variant	-	NC_000022.11:g.36295671G>A	gnomAD
rs1261023056	p.Glu1108Gly	missense variant	-	NC_000022.11:g.36295667T>C	gnomAD
rs1261023056	p.Glu1108Ala	missense variant	-	NC_000022.11:g.36295667T>G	gnomAD
rs1036053672	p.Glu1108Gln	missense variant	-	NC_000022.11:g.36295668C>G	TOPMed,gnomAD
NCI-TCGA novel	p.Ser1111ThrPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36295636_36295660TTCCTGGAGTTCAGAGATCTGAGAT>-	NCI-TCGA
COSM3842602	p.Ser1114Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36295649G>C	NCI-TCGA Cosmic
RCV000767070	p.Ser1114Pro	missense variant	-	NC_000022.11:g.36295650A>G	ClinVar
rs200901330	p.Ser1114Pro	missense variant	-	NC_000022.11:g.36295650A>G	ESP,ExAC,TOPMed,gnomAD
rs200901330	p.Ser1114Pro	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295650A>G	UniProt,dbSNP
VAR_018312	p.Ser1114Pro	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295650A>G	UniProt
COSM3553944	p.Glu1115Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36295647C>T	NCI-TCGA Cosmic
rs765237081	p.Arg1124His	missense variant	-	NC_000022.11:g.36295619C>T	ExAC,TOPMed,gnomAD
rs1207813150	p.Arg1124Cys	missense variant	-	NC_000022.11:g.36295620G>A	gnomAD
RCV000312584	p.Arg1124His	missense variant	MYH9-related disorder	NC_000022.11:g.36295619C>T	ClinVar
RCV000367303	p.Arg1124His	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36295619C>T	ClinVar
rs759328593	p.Ser1126Cys	missense variant	-	NC_000022.11:g.36295613G>C	ExAC,gnomAD
rs747282820	p.Glu1131Asp	missense variant	-	NC_000022.11:g.36295597C>A	ExAC,gnomAD
NCI-TCGA novel	p.Glu1131Val	missense variant	-	NC_000022.11:g.36295598T>A	NCI-TCGA
NCI-TCGA novel	p.Glu1131Gln	missense variant	-	NC_000022.11:g.36295599C>G	NCI-TCGA
NCI-TCGA novel	p.Glu1131Lys	missense variant	-	NC_000022.11:g.36295599C>T	NCI-TCGA
rs1341552420	p.Lys1132Arg	missense variant	-	NC_000022.11:g.36295595T>C	gnomAD
RCV000601770	p.Gln1133Glu	missense variant	-	NC_000022.11:g.36295593G>C	ClinVar
rs368797590	p.Gln1133Glu	missense variant	-	NC_000022.11:g.36295593G>C	ESP,ExAC,TOPMed,gnomAD
rs200604312	p.Lys1134Gln	missense variant	-	NC_000022.11:g.36295590T>G	ExAC,gnomAD
NCI-TCGA novel	p.Arg1135Gln	missense variant	-	NC_000022.11:g.36295586C>T	NCI-TCGA
rs1004670927	p.Ala1143Val	missense variant	-	NC_000022.11:g.36295562G>A	TOPMed,gnomAD
rs543021127	p.Thr1146Arg	missense variant	-	NC_000022.11:g.36295553G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs769272157	p.Thr1146Ala	missense variant	-	NC_000022.11:g.36295554T>C	ExAC,TOPMed,gnomAD
COSM4832758	p.Asp1150Tyr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36295542C>A	NCI-TCGA Cosmic
rs375081687	p.Thr1151Met	missense variant	-	NC_000022.11:g.36295538G>A	ESP,TOPMed,gnomAD
rs1210601633	p.Asp1153Asn	missense variant	-	NC_000022.11:g.36295533C>T	gnomAD
rs1457384793	p.Asp1153Glu	missense variant	-	NC_000022.11:g.36295531A>T	gnomAD
RCV000015124	p.Thr1155Ile	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295526G>A	ClinVar
rs121913656	p.Thr1155Ile	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295526G>A	UniProt,dbSNP
VAR_010794	p.Thr1155Ile	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295526G>A	UniProt
rs121913656	p.Thr1155Ile	missense variant	-	NC_000022.11:g.36295526G>A	-
rs777594273	p.Arg1162Lys	missense variant	-	NC_000022.11:g.36295505C>T	ExAC,gnomAD
rs551271617	p.Ser1163Ala	missense variant	-	NC_000022.11:g.36295075A>C	1000Genomes,ExAC,gnomAD
RCV000015121	p.Arg1165Cys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295069G>A	ClinVar
RCV000032221	p.Arg1165Leu	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295068C>A	ClinVar
rs80338829	p.Arg1165Cys	missense variant	-	NC_000022.11:g.36295069G>A	-
rs80338829	p.Arg1165Cys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295069G>A	UniProt,dbSNP
VAR_010795	p.Arg1165Cys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295069G>A	UniProt
rs80338830	p.Arg1165Leu	missense variant	-	NC_000022.11:g.36295068C>A	-
rs80338830	p.Arg1165Leu	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295068C>A	UniProt,dbSNP
VAR_018313	p.Arg1165Leu	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36295068C>A	UniProt
RCV000790357	p.Arg1165Cys	missense variant	MYH9-related disorder	NC_000022.11:g.36295069G>A	ClinVar
rs774401980	p.Ile1171Met	missense variant	-	NC_000022.11:g.36295049G>C	ExAC,gnomAD
rs1362302544	p.Lys1174Glu	missense variant	-	NC_000022.11:g.36295042T>C	gnomAD
rs531661503	p.Glu1177Asp	missense variant	-	NC_000022.11:g.36295031C>G	1000Genomes,ExAC,gnomAD
rs1351881642	p.Glu1178Lys	missense variant	-	NC_000022.11:g.36295030C>T	TOPMed,gnomAD
rs1351881642	p.Glu1178Gln	missense variant	-	NC_000022.11:g.36295030C>G	TOPMed,gnomAD
rs1287737856	p.Ala1180Ser	missense variant	-	NC_000022.11:g.36295024C>A	gnomAD
rs1279964083	p.Lys1181Arg	missense variant	-	NC_000022.11:g.36295020T>C	TOPMed
rs1355075179	p.Thr1182Ile	missense variant	-	NC_000022.11:g.36295017G>A	gnomAD
rs1281960330	p.Glu1184Lys	missense variant	-	NC_000022.11:g.36295012C>T	gnomAD
rs994672511	p.Ala1185Ser	missense variant	-	NC_000022.11:g.36295009C>A	TOPMed
rs199800916	p.Ala1185Val	missense variant	-	NC_000022.11:g.36295008G>A	1000Genomes,TOPMed,gnomAD
rs199800916	p.Ala1185Gly	missense variant	-	NC_000022.11:g.36295008G>C	1000Genomes,TOPMed,gnomAD
rs1397918124	p.His1194Gln	missense variant	-	NC_000022.11:g.36294980G>C	gnomAD
COSM1033841	p.Gln1196Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36294976G>A	NCI-TCGA Cosmic
rs1228197720	p.Gln1196Glu	missense variant	-	NC_000022.11:g.36294976G>C	gnomAD
rs200732002	p.Val1198Met	missense variant	-	NC_000022.11:g.36294970C>T	1000Genomes,ExAC,TOPMed,gnomAD
COSM726453	p.Glu1199Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36294965C>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Glu1199Ter	stop gained	-	NC_000022.11:g.36294967C>A	NCI-TCGA
NCI-TCGA novel	p.Glu1199Val	missense variant	-	NC_000022.11:g.36294966T>A	NCI-TCGA
rs1178604127	p.Glu1200Asp	missense variant	-	NC_000022.11:g.36294962C>A	TOPMed
rs1235014094	p.Glu1200Ter	stop gained	-	NC_000022.11:g.36294964C>A	TOPMed
rs1438334482	p.Glu1200Val	missense variant	-	NC_000022.11:g.36294963T>A	TOPMed
RCV000337020	p.Ala1202Val	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36294957G>A	ClinVar
RCV000281921	p.Ala1202Val	missense variant	MYH9-related disorder	NC_000022.11:g.36294957G>A	ClinVar
rs772915368	p.Ala1202Val	missense variant	-	NC_000022.11:g.36294957G>A	ExAC,TOPMed,gnomAD
rs998865732	p.Leu1205Met	missense variant	-	NC_000022.11:g.36294949G>T	TOPMed
VAR_018314	p.Leu1205_Gln1207del	inframe_deletion	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS) [MIM:155100]	-	UniProt
COSM1416049	p.Gln1207Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36294943G>A	NCI-TCGA Cosmic
rs754599035	p.Gln1207Lys	missense variant	-	NC_000022.11:g.36294943G>T	ExAC,gnomAD
rs754599035	p.Gln1207Glu	missense variant	-	NC_000022.11:g.36294943G>C	ExAC,gnomAD
rs201153545	p.Thr1208Met	missense variant	-	NC_000022.11:g.36294939G>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1209Glu	missense variant	-	NC_000022.11:g.36294937T>C	NCI-TCGA
rs368114068	p.Arg1210Gln	missense variant	-	NC_000022.11:g.36294933C>T	ESP,ExAC,gnomAD
RCV000287071	p.Ala1213Gly	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36294291G>C	ClinVar
rs1330818840	p.Ala1213Thr	missense variant	-	NC_000022.11:g.36294292C>T	gnomAD
RCV000381419	p.Ala1213Gly	missense variant	MYH9-related disorder	NC_000022.11:g.36294291G>C	ClinVar
rs886057481	p.Ala1213Gly	missense variant	-	NC_000022.11:g.36294291G>C	TOPMed,gnomAD
rs373722926	p.Ala1218Val	missense variant	-	NC_000022.11:g.36294276G>A	ESP,TOPMed,gnomAD
rs373722926	p.Ala1218Gly	missense variant	-	NC_000022.11:g.36294276G>C	ESP,TOPMed,gnomAD
rs1255970455	p.Gln1220His	missense variant	-	NC_000022.11:g.36294269C>G	TOPMed
rs766799761	p.Gln1220Leu	missense variant	-	NC_000022.11:g.36294270T>A	ExAC,gnomAD
COSM3553942	p.Glu1223Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36294262C>A	NCI-TCGA Cosmic
rs773790950	p.Glu1223Lys	missense variant	-	NC_000022.11:g.36294262C>T	ExAC,gnomAD
rs148258578	p.Asn1224Lys	missense variant	-	NC_000022.11:g.36294257G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs770864107	p.Glu1225Gln	missense variant	-	NC_000022.11:g.36294256C>G	ExAC,TOPMed,gnomAD
rs770864107	p.Glu1225Lys	missense variant	-	NC_000022.11:g.36294256C>T	ExAC,TOPMed,gnomAD
RCV000326885	p.Arg1226Gln	missense variant	MYH9-related disorder	NC_000022.11:g.36294252C>T	ClinVar
RCV000271817	p.Arg1226Gln	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36294252C>T	ClinVar
rs200697030	p.Arg1226Leu	missense variant	-	NC_000022.11:g.36294252C>A	ESP,ExAC,TOPMed,gnomAD
rs375797448	p.Arg1226Trp	missense variant	-	NC_000022.11:g.36294253G>A	ESP,ExAC,TOPMed,gnomAD
rs200697030	p.Arg1226Gln	missense variant	-	NC_000022.11:g.36294252C>T	ESP,ExAC,TOPMed,gnomAD
rs1168956728	p.Gly1227Glu	missense variant	-	NC_000022.11:g.36294249C>T	TOPMed
COSM3149605	p.Glu1228SerPheSerTerUnk	frameshift	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36294247C>-	NCI-TCGA Cosmic
RCV000754552	p.Glu1228Lys	missense variant	-	NC_000022.11:g.36294247C>T	ClinVar
rs746956415	p.Glu1228Lys	missense variant	-	NC_000022.11:g.36294247C>T	ExAC,gnomAD
rs1037740278	p.Ala1230Thr	missense variant	-	NC_000022.11:g.36294241C>T	TOPMed,gnomAD
rs1308791415	p.Glu1232Asp	missense variant	-	NC_000022.11:g.36294233C>G	gnomAD
RCV000722495	p.Glu1232Lys	missense variant	-	NC_000022.11:g.36294235C>T	ClinVar
RCV000213533	p.Val1233Met	missense variant	-	NC_000022.11:g.36294232C>T	ClinVar
rs542791128	p.Val1233Met	missense variant	-	NC_000022.11:g.36294232C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs544801273	p.Lys1234Arg	missense variant	-	NC_000022.11:g.36294228T>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1406322860	p.Asp1242Asn	missense variant	-	NC_000022.11:g.36294205C>T	gnomAD
rs959272684	p.Ser1243Leu	missense variant	-	NC_000022.11:g.36294201G>A	gnomAD
rs1441031662	p.His1245Tyr	missense variant	-	NC_000022.11:g.36294196G>A	gnomAD
NCI-TCGA novel	p.Arg1247Pro	missense variant	-	NC_000022.11:g.36294189C>G	NCI-TCGA
rs750911335	p.Arg1247Cys	missense variant	-	NC_000022.11:g.36294190G>A	ExAC,gnomAD
rs767868271	p.Arg1247His	missense variant	-	NC_000022.11:g.36294189C>T	ExAC,gnomAD
rs1276028189	p.Lys1248Glu	missense variant	-	NC_000022.11:g.36294187T>C	TOPMed
RCV000723104	p.Lys1248Glu	missense variant	-	NC_000022.11:g.36294187T>C	ClinVar
rs776779785	p.Val1250Ala	missense variant	-	NC_000022.11:g.36294180A>G	gnomAD
rs774921084	p.Val1250Leu	missense variant	-	NC_000022.11:g.36294181C>G	ExAC,TOPMed,gnomAD
rs769439120	p.Ala1252Thr	missense variant	-	NC_000022.11:g.36294175C>T	ExAC,TOPMed,gnomAD
rs759187934	p.Ala1252Val	missense variant	-	NC_000022.11:g.36294174G>A	ExAC,TOPMed,gnomAD
COSM726454	p.Gln1253Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36294171T>G	NCI-TCGA Cosmic
rs1156748427	p.Leu1257Val	missense variant	-	NC_000022.11:g.36294160G>C	TOPMed,gnomAD
rs977273457	p.Gln1258Arg	missense variant	-	NC_000022.11:g.36294156T>C	TOPMed
rs1415797822	p.Val1259Gly	missense variant	-	NC_000022.11:g.36294153A>C	gnomAD
rs192365600	p.Asn1262Lys	missense variant	-	NC_000022.11:g.36294143G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs777798216	p.Asn1262Asp	missense variant	-	NC_000022.11:g.36294145T>C	ExAC,gnomAD
rs138270050	p.Asn1262Ser	missense variant	-	NC_000022.11:g.36294144T>C	ESP,ExAC,TOPMed,gnomAD
rs1163525582	p.Glu1263Lys	missense variant	-	NC_000022.11:g.36294142C>T	TOPMed,gnomAD
rs969169357	p.Gly1264Arg	missense variant	-	NC_000022.11:g.36294139C>T	TOPMed
rs1421535397	p.Gly1264Glu	missense variant	-	NC_000022.11:g.36294138C>T	gnomAD
NCI-TCGA novel	p.Glu1265Asp	missense variant	-	NC_000022.11:g.36294134C>A	NCI-TCGA
rs375738970	p.Arg1266His	missense variant	-	NC_000022.11:g.36294132C>T	ESP,ExAC,TOPMed,gnomAD
rs755308451	p.Arg1266Cys	missense variant	-	NC_000022.11:g.36294133G>A	ExAC,TOPMed,gnomAD
rs756528783	p.Val1267Met	missense variant	-	NC_000022.11:g.36294130C>T	ExAC,gnomAD
NCI-TCGA novel	p.Arg1268Leu	missense variant	-	NC_000022.11:g.36294126C>A	NCI-TCGA
rs768022369	p.Arg1268His	missense variant	-	NC_000022.11:g.36294126C>T	ExAC,gnomAD
rs750701311	p.Arg1268Cys	missense variant	-	NC_000022.11:g.36294127G>A	ExAC,TOPMed,gnomAD
rs1319942790	p.Thr1269Ile	missense variant	-	NC_000022.11:g.36294123G>A	gnomAD
rs1244168341	p.Thr1269Ala	missense variant	-	NC_000022.11:g.36294124T>C	TOPMed,gnomAD
rs562063811	p.Ala1272Thr	missense variant	-	NC_000022.11:g.36294115C>T	1000Genomes,ExAC,gnomAD
rs1234398262	p.Ala1272Val	missense variant	-	NC_000022.11:g.36294114G>A	gnomAD
rs147031322	p.Asp1273His	missense variant	-	NC_000022.11:g.36294112C>G	ESP,ExAC,TOPMed,gnomAD
rs147031322	p.Asp1273Asn	missense variant	-	NC_000022.11:g.36294112C>T	ESP,ExAC,TOPMed,gnomAD
rs776320326	p.Lys1274Glu	missense variant	-	NC_000022.11:g.36294109T>C	ExAC,gnomAD
rs1276440350	p.Thr1276Pro	missense variant	-	NC_000022.11:g.36294103T>G	TOPMed
NCI-TCGA novel	p.Lys1277Ter	stop gained	-	NC_000022.11:g.36294100T>A	NCI-TCGA
rs1365379816	p.Gln1279Arg	missense variant	-	NC_000022.11:g.36294093T>C	TOPMed
rs141582478	p.Val1280Leu	missense variant	-	NC_000022.11:g.36293863C>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141582478	p.Val1280Met	missense variant	-	NC_000022.11:g.36293863C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs141582478	p.Val1280Leu	missense variant	-	NC_000022.11:g.36293863C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs768666026	p.Leu1282Val	missense variant	-	NC_000022.11:g.36293857G>C	ExAC,gnomAD
rs1316452838	p.Asn1284Asp	missense variant	-	NC_000022.11:g.36293851T>C	TOPMed
rs749399694	p.Asn1284Ser	missense variant	-	NC_000022.11:g.36293850T>C	ExAC,gnomAD
rs770119352	p.Val1285Met	missense variant	-	NC_000022.11:g.36293848C>T	ExAC,TOPMed,gnomAD
rs781586533	p.Gly1287Arg	missense variant	-	NC_000022.11:g.36293842C>T	ExAC,TOPMed,gnomAD
rs757588156	p.Ser1290Asn	missense variant	-	NC_000022.11:g.36293832C>T	ExAC,gnomAD
rs1174428350	p.Ser1290Gly	missense variant	-	NC_000022.11:g.36293833T>C	gnomAD
rs758776969	p.Asp1293Glu	missense variant	-	NC_000022.11:g.36293822G>C	ExAC,gnomAD
rs778278736	p.Asp1293Asn	missense variant	-	NC_000022.11:g.36293824C>T	ExAC,gnomAD
rs778278736	p.Asp1293His	missense variant	-	NC_000022.11:g.36293824C>G	ExAC,gnomAD
COSM1416047	p.Ser1294Asn	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36293820C>T	NCI-TCGA Cosmic
rs886057480	p.Lys1295Arg	missense variant	-	NC_000022.11:g.36293817T>C	-
rs750947814	p.Lys1295Asn	missense variant	-	NC_000022.11:g.36293816C>A	ExAC,gnomAD
RCV000354932	p.Lys1295Arg	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36293817T>C	ClinVar
RCV000300109	p.Lys1295Arg	missense variant	MYH9-related disorder	NC_000022.11:g.36293817T>C	ClinVar
rs1350431268	p.Ser1296Thr	missense variant	-	NC_000022.11:g.36293815A>T	gnomAD
rs866606224	p.Ser1296Tyr	missense variant	-	NC_000022.11:g.36293814G>T	gnomAD
rs1351011634	p.Ser1297Arg	missense variant	-	NC_000022.11:g.36293810G>C	gnomAD
rs779428678	p.Ser1297Asn	missense variant	-	NC_000022.11:g.36293811C>T	ExAC,TOPMed,gnomAD
rs779428678	p.Ser1297Ile	missense variant	-	NC_000022.11:g.36293811C>A	ExAC,TOPMed,gnomAD
rs755837040	p.Lys1298Asn	missense variant	-	NC_000022.11:g.36293807C>A	ExAC,gnomAD
rs1339876100	p.Thr1300Ala	missense variant	-	NC_000022.11:g.36293803T>C	TOPMed,gnomAD
RCV000220609	p.Lys1301Asn	missense variant	-	NC_000022.11:g.36293798C>G	ClinVar
rs767235227	p.Lys1301Asn	missense variant	-	NC_000022.11:g.36293798C>G	ExAC,gnomAD
rs1264986897	p.Lys1301Glu	missense variant	-	NC_000022.11:g.36293800T>C	TOPMed
rs1375778244	p.Asp1302Glu	missense variant	-	NC_000022.11:g.36293795G>C	TOPMed,gnomAD
rs951591806	p.Asp1302Tyr	missense variant	-	NC_000022.11:g.36293797C>A	TOPMed
rs1313746800	p.Phe1303Leu	missense variant	-	NC_000022.11:g.36293792G>T	TOPMed,gnomAD
rs371416304	p.Ser1304Phe	missense variant	-	NC_000022.11:g.36293790G>A	ESP
rs141904682	p.Ala1305Gly	missense variant	-	NC_000022.11:g.36293787G>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs372780340	p.Ala1305Thr	missense variant	-	NC_000022.11:g.36293788C>T	ExAC,gnomAD
rs141904682	p.Ala1305Val	missense variant	-	NC_000022.11:g.36293787G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1368404364	p.Ser1308Phe	missense variant	-	NC_000022.11:g.36293778G>A	gnomAD
rs1025888183	p.Thr1313Ile	missense variant	-	NC_000022.11:g.36293763G>A	TOPMed,gnomAD
rs1395865423	p.Glu1319Ala	missense variant	-	NC_000022.11:g.36293468T>G	gnomAD
COSM262226	p.Glu1320Asp	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36293464C>A	NCI-TCGA Cosmic
rs1408599841	p.Glu1320Gly	missense variant	-	NC_000022.11:g.36293465T>C	gnomAD
rs1477519000	p.Arg1322Gln	missense variant	-	NC_000022.11:g.36293459C>T	gnomAD
rs201269631	p.Arg1322Trp	missense variant	-	NC_000022.11:g.36293460G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs937625252	p.Gln1323Arg	missense variant	-	NC_000022.11:g.36293456T>C	TOPMed
rs745376621	p.Lys1332Gln	missense variant	-	NC_000022.11:g.36293430T>G	ExAC,gnomAD
rs1038334022	p.Glu1337Lys	missense variant	-	NC_000022.11:g.36293415C>T	gnomAD
COSM6161836	p.Ser1340Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36293406A>T	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ser1340Pro	missense variant	-	NC_000022.11:g.36293406A>G	NCI-TCGA
RCV000494660	p.Phe1341Ser	missense variant	-	NC_000022.11:g.36293402A>G	ClinVar
rs1131691639	p.Phe1341Ser	missense variant	-	NC_000022.11:g.36293402A>G	TOPMed,gnomAD
RCV000408217	p.Arg1342Gln	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36293399C>T	ClinVar
RCV000285049	p.Arg1342Gln	missense variant	MYH9-related disorder	NC_000022.11:g.36293399C>T	ClinVar
RCV000597934	p.Arg1342Trp	missense variant	-	NC_000022.11:g.36293400G>A	ClinVar
rs147901502	p.Arg1342Trp	missense variant	-	NC_000022.11:g.36293400G>A	ESP,ExAC,TOPMed,gnomAD
rs758159686	p.Arg1342Gln	missense variant	-	NC_000022.11:g.36293399C>T	ExAC,TOPMed,gnomAD
rs765101192	p.Glu1347Lys	missense variant	-	NC_000022.11:g.36293385C>T	ExAC,gnomAD
rs754846885	p.Glu1349Lys	missense variant	-	NC_000022.11:g.36293379C>T	ExAC,TOPMed,gnomAD
RCV000222927	p.Glu1350Asp	missense variant	-	NC_000022.11:g.36293374C>G	ClinVar
rs375955867	p.Glu1350Asp	missense variant	-	NC_000022.11:g.36293374C>G	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1351Pro	missense variant	-	NC_000022.11:g.36293373C>G	NCI-TCGA
rs766437086	p.Ala1351Gly	missense variant	-	NC_000022.11:g.36293372G>C	ExAC
rs1175064006	p.Ala1351Thr	missense variant	-	NC_000022.11:g.36293373C>T	gnomAD
rs760925312	p.Lys1352Arg	missense variant	-	NC_000022.11:g.36293369T>C	ExAC,TOPMed,gnomAD
rs569649580	p.Ala1360Thr	missense variant	-	NC_000022.11:g.36293346C>T	TOPMed,gnomAD
rs373384951	p.Ala1360Gly	missense variant	-	NC_000022.11:g.36293345G>C	ESP,ExAC,TOPMed,gnomAD
rs1278490017	p.Leu1362Phe	missense variant	-	NC_000022.11:g.36293340G>A	gnomAD
rs1238726807	p.His1363Tyr	missense variant	-	NC_000022.11:g.36293337G>A	TOPMed
rs1415779926	p.Val1366Met	missense variant	-	NC_000022.11:g.36292234C>T	TOPMed,gnomAD
rs774636106	p.Ala1367Asp	missense variant	-	NC_000022.11:g.36292230G>T	ExAC,TOPMed,gnomAD
rs774636106	p.Ala1367Val	missense variant	-	NC_000022.11:g.36292230G>A	ExAC,TOPMed,gnomAD
rs776174061	p.Asp1368Asn	missense variant	-	NC_000022.11:g.36292228C>T	ExAC,TOPMed,gnomAD
rs776174061	p.Asp1368Tyr	missense variant	-	NC_000022.11:g.36292228C>A	ExAC,TOPMed,gnomAD
rs368982363	p.Met1369Val	missense variant	-	NC_000022.11:g.36292225T>C	ESP,gnomAD
rs770377517	p.Lys1371Glu	missense variant	-	NC_000022.11:g.36292219T>C	ExAC,gnomAD
rs1419920797	p.Lys1371Arg	missense variant	-	NC_000022.11:g.36292218T>C	gnomAD
rs1216109956	p.Met1373Val	missense variant	-	NC_000022.11:g.36292213T>C	TOPMed
rs200894704	p.Met1373Ile	missense variant	-	NC_000022.11:g.36292211C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs202033925	p.Asp1375His	missense variant	-	NC_000022.11:g.36292207C>G	1000Genomes,ExAC,gnomAD
COSM1033840	p.Ser1376Arg	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36292202A>C	NCI-TCGA Cosmic
RCV000287475	p.Ser1376Gly	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36292204T>C	ClinVar
rs1184951793	p.Ser1376Thr	missense variant	-	NC_000022.11:g.36292203C>G	TOPMed,gnomAD
rs771692651	p.Ser1376Gly	missense variant	-	NC_000022.11:g.36292204T>C	ExAC,gnomAD
RCV000342403	p.Ser1376Gly	missense variant	MYH9-related disorder	NC_000022.11:g.36292204T>C	ClinVar
rs778732146	p.Gly1378Trp	missense variant	-	NC_000022.11:g.36292198C>A	ExAC,TOPMed,gnomAD
rs768412470	p.Cys1379Tyr	missense variant	-	NC_000022.11:g.36292194C>T	ExAC,TOPMed,gnomAD
rs574458172	p.Glu1381Ala	missense variant	-	NC_000022.11:g.36292188T>G	1000Genomes,ExAC,gnomAD
rs779975795	p.Thr1382Ala	missense variant	-	NC_000022.11:g.36292186T>C	ExAC,gnomAD
rs1234301791	p.Ala1383Val	missense variant	-	NC_000022.11:g.36292182G>A	gnomAD
rs200616409	p.Glu1384Gln	missense variant	-	NC_000022.11:g.36292180C>G	1000Genomes,ExAC,TOPMed,gnomAD
RCV000332817	p.Glu1384Gln	missense variant	-	NC_000022.11:g.36292180C>G	ClinVar
NCI-TCGA novel	p.Glu1385Gln	missense variant	-	NC_000022.11:g.36292177C>G	NCI-TCGA
rs1175227715	p.Glu1385Lys	missense variant	-	NC_000022.11:g.36292177C>T	TOPMed
rs750534869	p.Glu1385Gly	missense variant	-	NC_000022.11:g.36292176T>C	ExAC,gnomAD
rs781318252	p.Val1386Ala	missense variant	-	NC_000022.11:g.36292173A>G	ExAC,gnomAD
rs757468108	p.Arg1388Trp	missense variant	-	NC_000022.11:g.36292168T>A	ExAC,gnomAD
COSM1327248	p.Lys1389Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36292165T>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Lys1392Asn	missense variant	-	NC_000022.11:g.36292154C>G	NCI-TCGA
rs534834747	p.Asp1393Tyr	missense variant	-	NC_000022.11:g.36292153C>A	1000Genomes,ExAC,gnomAD
rs727504829	p.Asp1393Glu	missense variant	-	NC_000022.11:g.36292151G>C	ExAC,TOPMed,gnomAD
RCV000156169	p.Asp1393Glu	missense variant	-	NC_000022.11:g.36292151G>C	ClinVar
rs1371089733	p.Ser1398Arg	missense variant	-	NC_000022.11:g.36292136G>T	gnomAD
rs771591274	p.Arg1400Leu	missense variant	-	NC_000022.11:g.36292131C>A	ExAC,gnomAD
rs771591274	p.Arg1400Gln	missense variant	-	NC_000022.11:g.36292131C>T	ExAC,gnomAD
rs76368635	p.Arg1400Trp	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292132G>A	UniProt,dbSNP
VAR_018315	p.Arg1400Trp	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292132G>A	UniProt
rs76368635	p.Arg1400Trp	missense variant	-	NC_000022.11:g.36292132G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000037559	p.Arg1400Trp	missense variant	-	NC_000022.11:g.36292132G>A	ClinVar
rs116972183	p.His1401Tyr	missense variant	-	NC_000022.11:g.36292129G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs539186034	p.His1401Gln	missense variant	-	NC_000022.11:g.36292127G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs1439574314	p.Glu1402Lys	missense variant	-	NC_000022.11:g.36292126C>T	TOPMed
rs1255465286	p.Val1405Met	missense variant	-	NC_000022.11:g.36292117C>T	gnomAD
COSM1416044	p.Ala1407Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36292110G>A	NCI-TCGA Cosmic
rs199639878	p.Ala1407Thr	missense variant	-	NC_000022.11:g.36292111C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1271789474	p.Tyr1408His	missense variant	-	NC_000022.11:g.36292108A>G	TOPMed
RCV000151333	p.Asp1409Asn	missense variant	-	NC_000022.11:g.36292105C>T	ClinVar
rs34292387	p.Asp1409Asn	missense variant	-	NC_000022.11:g.36292105C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Leu1411Pro	missense variant	-	NC_000022.11:g.36292098A>G	NCI-TCGA
rs1438096415	p.Lys1413Arg	missense variant	-	NC_000022.11:g.36292092T>C	gnomAD
rs758626716	p.Thr1416Met	missense variant	-	NC_000022.11:g.36292083G>A	ExAC,TOPMed,gnomAD
RCV000216020	p.Thr1416Met	missense variant	-	NC_000022.11:g.36292083G>A	ClinVar
COSM726455	p.Arg1417Gln	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36292080C>T	NCI-TCGA Cosmic
rs1394231995	p.Arg1417Trp	missense variant	-	NC_000022.11:g.36292081G>A	gnomAD
rs1169499284	p.Leu1418Met	missense variant	-	NC_000022.11:g.36292078G>T	gnomAD
rs200510675	p.Gln1420Glu	missense variant	-	NC_000022.11:g.36292072G>C	1000Genomes,ExAC,TOPMed,gnomAD
rs200510675	p.Gln1420Lys	missense variant	-	NC_000022.11:g.36292072G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs1182960625	p.Gln1420Arg	missense variant	-	NC_000022.11:g.36292071T>C	TOPMed,gnomAD
RCV000735759	p.Glu1421Lys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292069C>T	ClinVar
rs146401386	p.Asp1423Tyr	missense variant	-	NC_000022.11:g.36292063C>A	ESP,ExAC,TOPMed,gnomAD
RCV000015134	p.Asp1424Asn	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>T	ClinVar
rs1397006934	p.Asp1424Glu	missense variant	-	NC_000022.11:g.36292058G>C	TOPMed,gnomAD
RCV000790359	p.Asp1424Tyr	missense variant	MYH9-related disorder	NC_000022.11:g.36292060C>A	ClinVar
RCV000032224	p.Asp1424Tyr	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>A	ClinVar
rs80338831	p.Asp1424Asn	missense variant	-	NC_000022.11:g.36292060C>T	-
rs80338831	p.Asp1424Asn	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>T	UniProt,dbSNP
VAR_018316	p.Asp1424Asn	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>T	UniProt
rs80338831	p.Asp1424Tyr	missense variant	-	NC_000022.11:g.36292060C>A	-
rs80338831	p.Asp1424Tyr	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>A	UniProt,dbSNP
VAR_018317	p.Asp1424Tyr	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>A	UniProt
rs867593888	p.Asp1424Gly	missense variant	-	NC_000022.11:g.36292059T>C	-
RCV000032223	p.Asp1424His	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>G	ClinVar
RCV000790358	p.Asp1424Asn	missense variant	MYH9-related disorder	NC_000022.11:g.36292060C>T	ClinVar
rs80338831	p.Asp1424His	missense variant	-	NC_000022.11:g.36292060C>G	-
rs80338831	p.Asp1424His	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>G	UniProt,dbSNP
VAR_010796	p.Asp1424His	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36292060C>G	UniProt
RCV000852126	p.Asp1424Gly	missense variant	MYH9-related disorder	NC_000022.11:g.36292059T>C	ClinVar
RCV000626824	p.Asp1424Gly	missense variant	Obesity (EO Obesity)	NC_000022.11:g.36292059T>C	ClinVar
rs766759099	p.Leu1425Arg	missense variant	-	NC_000022.11:g.36292056A>C	ExAC,gnomAD
rs1307019542	p.Asp1428Glu	missense variant	-	NC_000022.11:g.36292046G>C	TOPMed
rs1020928181	p.Leu1429Gln	missense variant	-	NC_000022.11:g.36292044A>T	TOPMed
rs1249032059	p.Asp1430Gly	missense variant	-	NC_000022.11:g.36292041T>C	gnomAD
rs1437823700	p.Asp1430His	missense variant	-	NC_000022.11:g.36292042C>G	gnomAD
rs1375723216	p.Gln1432Glu	missense variant	-	NC_000022.11:g.36292036G>C	TOPMed
RCV000584865	p.Arg1433His	missense variant	-	NC_000022.11:g.36292032C>T	ClinVar
rs727503286	p.Arg1433Cys	missense variant	-	NC_000022.11:g.36292033G>A	ExAC,TOPMed,gnomAD
rs530533580	p.Arg1433His	missense variant	-	NC_000022.11:g.36292032C>T	1000Genomes,ExAC,gnomAD
rs530533580	p.Arg1433Leu	missense variant	-	NC_000022.11:g.36292032C>A	1000Genomes,ExAC,gnomAD
RCV000276612	p.Arg1433Cys	missense variant	MYH9-related disorder	NC_000022.11:g.36292033G>A	ClinVar
RCV000331644	p.Arg1433Cys	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36292033G>A	ClinVar
RCV000151332	p.Arg1433Cys	missense variant	-	NC_000022.11:g.36292033G>A	ClinVar
rs143979758	p.Gln1434His	missense variant	-	NC_000022.11:g.36292028C>G	ESP,TOPMed,gnomAD
RCV000730503	p.Ser1435Gly	missense variant	-	NC_000022.11:g.36292027T>C	ClinVar
RCV000151331	p.Ala1436Thr	missense variant	-	NC_000022.11:g.36292024C>T	ClinVar
rs1303570125	p.Ala1436Val	missense variant	-	NC_000022.11:g.36292023G>A	TOPMed,gnomAD
rs373912645	p.Ala1436Thr	missense variant	-	NC_000022.11:g.36292024C>T	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1442AsnPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36292004C>-	NCI-TCGA
NCI-TCGA novel	p.Lys1442Thr	missense variant	-	NC_000022.11:g.36292005T>G	NCI-TCGA
rs776653786	p.Lys1442Arg	missense variant	-	NC_000022.11:g.36292005T>C	ExAC,gnomAD
rs777996929	p.Lys1444Arg	missense variant	-	NC_000022.11:g.36291999T>C	ExAC,TOPMed,gnomAD
rs747090249	p.Lys1444Gln	missense variant	-	NC_000022.11:g.36292000T>G	ExAC
rs748363414	p.Lys1445Met	missense variant	-	NC_000022.11:g.36291996T>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Lys1445Thr	missense variant	-	NC_000022.11:g.36291996T>G	NCI-TCGA
rs748363414	p.Lys1445Arg	missense variant	-	NC_000022.11:g.36291996T>C	ExAC,TOPMed,gnomAD
rs1486787362	p.Lys1445Ter	stop gained	-	NC_000022.11:g.36291997T>A	TOPMed
RCV000790360	p.Asp1447Val	missense variant	MYH9-related disorder	NC_000022.11:g.36291990T>A	ClinVar
rs797044804	p.Asp1447Val	missense variant	-	NC_000022.11:g.36291990T>A	-
rs759107183	p.Ala1451Val	missense variant	-	NC_000022.11:g.36289290G>A	ExAC,TOPMed,gnomAD
rs1454757514	p.Thr1455Asn	missense variant	-	NC_000022.11:g.36289278G>T	TOPMed
rs1163341884	p.Thr1455Ala	missense variant	-	NC_000022.11:g.36289279T>C	gnomAD
rs760738611	p.Ile1456Met	missense variant	-	NC_000022.11:g.36289274G>C	ExAC,gnomAD
rs1463372716	p.Ile1456Leu	missense variant	-	NC_000022.11:g.36289276T>G	gnomAD
rs1335054853	p.Lys1459Asn	missense variant	-	NC_000022.11:g.36289265C>G	TOPMed
rs1474253385	p.Glu1463Lys	missense variant	-	NC_000022.11:g.36289255C>T	gnomAD
RCV000405444	p.Arg1464His	missense variant	MYH9-related disorder	NC_000022.11:g.36289251C>T	ClinVar
RCV000308851	p.Arg1464His	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36289251C>T	ClinVar
rs772088544	p.Arg1464Cys	missense variant	-	NC_000022.11:g.36289252G>A	ExAC,gnomAD
rs199968414	p.Arg1464His	missense variant	-	NC_000022.11:g.36289251C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs201248264	p.Asp1465Asn	missense variant	-	NC_000022.11:g.36289249C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs139134727	p.Arg1466Trp	missense variant	-	NC_000022.11:g.36289246G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000151329	p.Arg1466Trp	missense variant	-	NC_000022.11:g.36289246G>A	ClinVar
rs780507039	p.Arg1466Gln	missense variant	-	NC_000022.11:g.36289245C>T	ExAC,TOPMed,gnomAD
rs970919478	p.Ala1467Thr	missense variant	-	NC_000022.11:g.36289243C>T	TOPMed,gnomAD
rs970919478	p.Ala1467Pro	missense variant	-	NC_000022.11:g.36289243C>G	TOPMed,gnomAD
rs970919478	p.Ala1467Ser	missense variant	-	NC_000022.11:g.36289243C>A	TOPMed,gnomAD
rs557967677	p.Ala1469Val	missense variant	-	NC_000022.11:g.36289236G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1337772877	p.Ala1469Ser	missense variant	-	NC_000022.11:g.36289237C>A	gnomAD
NCI-TCGA novel	p.Glu1470Gln	missense variant	-	NC_000022.11:g.36289234C>G	NCI-TCGA
rs746179857	p.Arg1472Gln	missense variant	-	NC_000022.11:g.36289227C>T	ExAC,TOPMed,gnomAD
rs781672785	p.Lys1474Arg	missense variant	-	NC_000022.11:g.36289221T>C	ExAC,gnomAD
rs757694730	p.Glu1475Asp	missense variant	-	NC_000022.11:g.36289217C>G	ExAC,gnomAD
rs1244289150	p.Ser1480Leu	missense variant	-	NC_000022.11:g.36289203G>A	TOPMed
RCV000151328	p.Arg1483Gln	missense variant	-	NC_000022.11:g.36289194C>T	ClinVar
rs727503285	p.Arg1483Gln	missense variant	-	NC_000022.11:g.36289194C>T	ExAC,TOPMed,gnomAD
rs368105628	p.Arg1483Trp	missense variant	-	NC_000022.11:g.36289195G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1468906391	p.Ala1484Thr	missense variant	-	NC_000022.11:g.36289192C>T	gnomAD
rs1232230216	p.Ala1484Gly	missense variant	-	NC_000022.11:g.36289191G>C	gnomAD
NCI-TCGA novel	p.Leu1485Pro	missense variant	-	NC_000022.11:g.36289188A>G	NCI-TCGA
rs1229463076	p.Met1489Ile	missense variant	-	NC_000022.11:g.36289175C>T	gnomAD
rs1301411308	p.Gln1491Glu	missense variant	-	NC_000022.11:g.36289171G>C	gnomAD
rs750188842	p.Lys1492Glu	missense variant	-	NC_000022.11:g.36289168T>C	ExAC,gnomAD
RCV000352278	p.Lys1492Glu	missense variant	MYH9-related disorder	NC_000022.11:g.36289168T>C	ClinVar
RCV000388129	p.Lys1492Glu	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36289168T>C	ClinVar
rs371535403	p.Ala1493Gly	missense variant	-	NC_000022.11:g.36289164G>C	TOPMed,gnomAD
rs371535403	p.Ala1493Glu	missense variant	-	NC_000022.11:g.36289164G>T	TOPMed,gnomAD
rs371535403	p.Ala1493Val	missense variant	-	NC_000022.11:g.36289164G>A	TOPMed,gnomAD
rs761638071	p.Glu1496Ala	missense variant	-	NC_000022.11:g.36289155T>G	ExAC,gnomAD
rs1356604260	p.Glu1496Gln	missense variant	-	NC_000022.11:g.36289156C>G	gnomAD
rs1373228814	p.Arg1497Gln	missense variant	-	NC_000022.11:g.36289152C>T	gnomAD
rs1433769117	p.Arg1497Trp	missense variant	-	NC_000022.11:g.36289153G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Leu1498Arg	missense variant	-	NC_000022.11:g.36289149A>C	NCI-TCGA
rs1175047471	p.Leu1498Phe	missense variant	-	NC_000022.11:g.36289150G>A	gnomAD
rs962270462	p.Asn1499Ser	missense variant	-	NC_000022.11:g.36289146T>C	TOPMed,gnomAD
rs138561532	p.Arg1503Cys	missense variant	-	NC_000022.11:g.36289135G>A	ESP,TOPMed,gnomAD
rs549408311	p.Arg1503His	missense variant	-	NC_000022.11:g.36289134C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs150565890	p.Thr1504Met	missense variant	-	NC_000022.11:g.36289131G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs566978904	p.Glu1507Lys	missense variant	-	NC_000022.11:g.36289123C>T	1000Genomes,ExAC,gnomAD
rs775597341	p.Leu1509Phe	missense variant	-	NC_000022.11:g.36289117G>A	ExAC,TOPMed,gnomAD
rs775597341	p.Leu1509Val	missense variant	-	NC_000022.11:g.36289117G>C	ExAC,TOPMed,gnomAD
rs1213125378	p.Ser1511Asn	missense variant	-	NC_000022.11:g.36289110C>T	gnomAD
COSM1033837	p.Ser1512Phe	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36289107G>A	NCI-TCGA Cosmic
rs141750518	p.Asp1515Asn	missense variant	-	NC_000022.11:g.36289099C>T	ESP,ExAC,TOPMed,gnomAD
rs727503284	p.Val1516Leu	missense variant	-	NC_000022.11:g.36289096C>A	-
RCV000151326	p.Val1516Leu	missense variant	Rare genetic deafness	NC_000022.11:g.36289096C>A	ClinVar
NCI-TCGA novel	p.Lys1518Asn	missense variant	-	NC_000022.11:g.36289088C>G	NCI-TCGA
RCV000727282	p.Ser1519Asn	missense variant	-	NC_000022.11:g.36289086C>T	ClinVar
rs138193963	p.Ser1519Asn	missense variant	-	NC_000022.11:g.36289086C>T	ESP,ExAC,TOPMed,gnomAD
RCV000151325	p.Ser1519Asn	missense variant	-	NC_000022.11:g.36289086C>T	ClinVar
NCI-TCGA novel	p.Val1520CysPheSerTerUnkUnkUnk	frameshift	-	NC_000022.11:g.36288939_36288940insA	NCI-TCGA
rs11549907	p.His1521Gln	missense variant	-	NC_000022.11:g.36288934G>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
COSM1033836	p.Glu1522Lys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36288933C>T	NCI-TCGA Cosmic
rs771169790	p.Glu1524Gln	missense variant	-	NC_000022.11:g.36288927C>G	ExAC,TOPMed,gnomAD
rs747362893	p.Lys1525Arg	missense variant	-	NC_000022.11:g.36288923T>C	ExAC,gnomAD
rs201405521	p.Arg1528Trp	missense variant	-	NC_000022.11:g.36288915G>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs772577695	p.Arg1528Gln	missense variant	-	NC_000022.11:g.36288914C>T	ExAC,gnomAD
COSM1484205	p.Glu1531Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36288906C>A	NCI-TCGA Cosmic
COSM1416043	p.Glu1531Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36288905T>A	NCI-TCGA Cosmic
rs1243250029	p.Glu1531Asp	missense variant	-	NC_000022.11:g.36288904C>G	TOPMed
rs11549910	p.Gln1532Arg	missense variant	-	NC_000022.11:g.36288902T>C	-
RCV000216927	p.Gln1533Arg	missense variant	-	NC_000022.11:g.36288899T>C	ClinVar
rs779694122	p.Gln1533Lys	missense variant	-	NC_000022.11:g.36288900G>T	ExAC,TOPMed,gnomAD
rs876657892	p.Gln1533Arg	missense variant	-	NC_000022.11:g.36288899T>C	-
rs11549909	p.Val1534Met	missense variant	-	NC_000022.11:g.36288897C>T	1000Genomes,ExAC,gnomAD
rs11549909	p.Val1534Leu	missense variant	-	NC_000022.11:g.36288897C>G	1000Genomes,ExAC,gnomAD
rs902539406	p.Glu1535Lys	missense variant	-	NC_000022.11:g.36288894C>T	gnomAD
rs745483956	p.Glu1535Asp	missense variant	-	NC_000022.11:g.36288892C>A	ExAC,gnomAD
rs1267666166	p.Glu1536Gly	missense variant	-	NC_000022.11:g.36288890T>C	gnomAD
rs1197634892	p.Met1537Val	missense variant	-	NC_000022.11:g.36288888T>C	TOPMed
rs772323929	p.Thr1539Met	missense variant	-	NC_000022.11:g.36288881G>A	ExAC,TOPMed,gnomAD
rs1365242818	p.Glu1542Gln	missense variant	-	NC_000022.11:g.36288873C>G	gnomAD
rs1556630000	p.Glu1547Gln	missense variant	-	NC_000022.11:g.36288858C>G	-
RCV000657987	p.Glu1547Gln	missense variant	-	NC_000022.11:g.36288858C>G	ClinVar
rs752832018	p.Glu1547Asp	missense variant	-	NC_000022.11:g.36288856C>A	ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Thr1551Ala	missense variant	-	NC_000022.11:g.36288846T>C	NCI-TCGA
RCV000263189	p.Glu1552Lys	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36288843C>T	ClinVar
rs886057479	p.Glu1552Lys	missense variant	-	NC_000022.11:g.36288843C>T	-
RCV000318391	p.Glu1552Lys	missense variant	MYH9-related disorder	NC_000022.11:g.36288843C>T	ClinVar
rs537998194	p.Glu1552Asp	missense variant	-	NC_000022.11:g.36288841T>A	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1554Val	missense variant	-	NC_000022.11:g.36288836G>A	NCI-TCGA
RCV000598425	p.Lys1555Arg	missense variant	-	NC_000022.11:g.36288833T>C	ClinVar
rs141543499	p.Lys1555Arg	missense variant	-	NC_000022.11:g.36288833T>C	ESP,ExAC,TOPMed,gnomAD
rs373393111	p.Arg1557Gln	missense variant	-	NC_000022.11:g.36288827C>T	ESP,ExAC,gnomAD
rs1247241621	p.Arg1557Trp	missense variant	-	NC_000022.11:g.36288828G>A	gnomAD
RCV000483533	p.Val1560Gly	missense variant	-	NC_000022.11:g.36288818A>C	ClinVar
rs1064794326	p.Val1560Gly	missense variant	-	NC_000022.11:g.36288818A>C	-
rs139039608	p.Leu1562Val	missense variant	-	NC_000022.11:g.36288813G>C	ESP,ExAC,TOPMed,gnomAD
rs748639460	p.Met1565Arg	missense variant	-	NC_000022.11:g.36288803A>C	ExAC,TOPMed,gnomAD
rs774387771	p.Met1565Leu	missense variant	-	NC_000022.11:g.36288804T>G	TOPMed,gnomAD
rs748639460	p.Met1565Thr	missense variant	-	NC_000022.11:g.36288803A>G	ExAC,TOPMed,gnomAD
rs774387771	p.Met1565Val	missense variant	-	NC_000022.11:g.36288804T>C	TOPMed,gnomAD
rs1308621735	p.Phe1569Ile	missense variant	-	NC_000022.11:g.36288792A>T	TOPMed
rs576697687	p.Phe1569Leu	missense variant	-	NC_000022.11:g.36288790G>C	1000Genomes,TOPMed,gnomAD
rs1249288389	p.Glu1570Lys	missense variant	-	NC_000022.11:g.36288789C>T	gnomAD
rs775178209	p.Arg1571Trp	missense variant	-	NC_000022.11:g.36288786G>A	ExAC,TOPMed,gnomAD
COSM4103818	p.Leu1573Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36288780G>T	NCI-TCGA Cosmic
rs769457174	p.Leu1573Val	missense variant	-	NC_000022.11:g.36288780G>C	ExAC,gnomAD
RCV000151323	p.Arg1576Gln	missense variant	-	NC_000022.11:g.36288770C>T	ClinVar
rs199722926	p.Arg1576Trp	missense variant	-	NC_000022.11:g.36288771G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs143269195	p.Arg1576Gln	missense variant	-	NC_000022.11:g.36288770C>T	ESP,ExAC,TOPMed,gnomAD
rs1394018862	p.Asp1577Asn	missense variant	-	NC_000022.11:g.36288768C>T	gnomAD
rs1299645320	p.Asp1577Val	missense variant	-	NC_000022.11:g.36288767T>A	gnomAD
rs777612180	p.Glu1578Lys	missense variant	-	NC_000022.11:g.36288765C>T	ExAC,gnomAD
rs1179926547	p.Gln1579Glu	missense variant	-	NC_000022.11:g.36288762G>C	TOPMed
rs566790184	p.Glu1581Lys	missense variant	-	NC_000022.11:g.36288756C>T	1000Genomes,ExAC,gnomAD
rs1418977738	p.Lys1583Asn	missense variant	-	NC_000022.11:g.36288748C>A	TOPMed,gnomAD
NCI-TCGA novel	p.Lys1584Glu	missense variant	-	NC_000022.11:g.36288747T>C	NCI-TCGA
rs149169068	p.Lys1585Gln	missense variant	-	NC_000022.11:g.36288744T>G	ESP,ExAC,TOPMed,gnomAD
rs1408685006	p.Gln1586Lys	missense variant	-	NC_000022.11:g.36288741G>T	gnomAD
rs1420833291	p.Arg1589Gly	missense variant	-	NC_000022.11:g.36288732T>C	TOPMed
rs1208119638	p.Gln1590Arg	missense variant	-	NC_000022.11:g.36288728T>C	gnomAD
rs1381655090	p.Arg1592Trp	missense variant	-	NC_000022.11:g.36288410G>A	gnomAD
rs1387108152	p.Arg1592Gln	missense variant	-	NC_000022.11:g.36288409C>T	gnomAD
COSM4932511	p.Glu1593Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36288407C>A	NCI-TCGA Cosmic
rs1458125730	p.Met1594Arg	missense variant	-	NC_000022.11:g.36288403A>C	gnomAD
rs1458125730	p.Met1594Thr	missense variant	-	NC_000022.11:g.36288403A>G	gnomAD
rs1319329696	p.Met1594Ile	missense variant	-	NC_000022.11:g.36288402C>T	TOPMed
rs753988644	p.Met1594Leu	missense variant	-	NC_000022.11:g.36288404T>G	ExAC,TOPMed,gnomAD
rs540220521	p.Glu1595Asp	missense variant	-	NC_000022.11:g.36288399C>A	1000Genomes
rs1417648620	p.Ala1596Gly	missense variant	-	NC_000022.11:g.36288397G>C	gnomAD
rs1163205030	p.Leu1598Met	missense variant	-	NC_000022.11:g.36288392G>T	gnomAD
rs781661570	p.Glu1599Asp	missense variant	-	NC_000022.11:g.36288387C>G	ExAC,TOPMed,gnomAD
rs1368617269	p.Asp1600Asn	missense variant	-	NC_000022.11:g.36288386C>T	gnomAD
COSM461110	p.Glu1601Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36288383C>A	NCI-TCGA Cosmic
rs1444725413	p.Glu1601Ala	missense variant	-	NC_000022.11:g.36288382T>G	gnomAD
rs1249850232	p.Arg1602Lys	missense variant	-	NC_000022.11:g.36288379C>T	gnomAD
rs1235479005	p.Arg1602Ser	missense variant	-	NC_000022.11:g.36288378C>G	TOPMed,gnomAD
COSM726456	p.Arg1605Leu	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36288370C>A	NCI-TCGA Cosmic
rs1467956956	p.Arg1605Cys	missense variant	-	NC_000022.11:g.36288371G>A	gnomAD
rs145319741	p.Ser1606Leu	missense variant	-	NC_000022.11:g.36288367G>A	ESP,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Ala1608Ser	missense variant	-	NC_000022.11:g.36288362C>A	NCI-TCGA
rs762280347	p.Val1609Ala	missense variant	-	NC_000022.11:g.36288358A>G	ExAC,gnomAD
rs150029980	p.Ala1611Thr	missense variant	-	NC_000022.11:g.36288353C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs150029980	p.Ala1611Ser	missense variant	-	NC_000022.11:g.36288353C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000155180	p.Ala1611Thr	missense variant	-	NC_000022.11:g.36288353C>T	ClinVar
rs1340737753	p.Arg1612Trp	missense variant	-	NC_000022.11:g.36288350G>A	gnomAD
rs1322606616	p.Leu1615Met	missense variant	-	NC_000022.11:g.36288341G>T	gnomAD
rs760064629	p.Glu1616Asp	missense variant	-	NC_000022.11:g.36288336C>A	ExAC,gnomAD
rs772942510	p.Met1617Val	missense variant	-	NC_000022.11:g.36288335T>C	ExAC,gnomAD
rs1407374239	p.Asp1618Val	missense variant	-	NC_000022.11:g.36288331T>A	gnomAD
rs771657500	p.Asp1618Tyr	missense variant	-	NC_000022.11:g.36288332C>A	ExAC,gnomAD
rs778679056	p.Leu1619Met	missense variant	-	NC_000022.11:g.36288329G>T	ExAC,gnomAD
rs1166914282	p.Lys1620Arg	missense variant	-	NC_000022.11:g.36288325T>C	gnomAD
COSM4998085	p.Glu1623Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36288317C>A	NCI-TCGA Cosmic
rs1391531785	p.Ala1624Val	missense variant	-	NC_000022.11:g.36288313G>A	TOPMed,gnomAD
rs1331000345	p.His1625Pro	missense variant	-	NC_000022.11:g.36288310T>G	TOPMed
RCV000402895	p.Ile1626Val	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36288308T>C	ClinVar
RCV000037563	p.Ile1626Val	missense variant	-	NC_000022.11:g.36288308T>C	ClinVar
RCV000368736	p.Ile1626Val	missense variant	MYH9-related disorder	NC_000022.11:g.36288308T>C	ClinVar
RCV000032225	p.Ile1626Val	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36288308T>C	ClinVar
rs2269529	p.Ile1626Val	missense variant	-	NC_000022.11:g.36288308T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs2269529	p.Ile1626Val	missense variant	-	NC_000022.11:g.36288308T>C	UniProt,dbSNP
VAR_018318	p.Ile1626Val	missense variant	-	NC_000022.11:g.36288308T>C	UniProt
rs756236810	p.Asp1627Asn	missense variant	-	NC_000022.11:g.36288305C>T	ExAC,TOPMed,gnomAD
rs1451917771	p.Ser1628Ala	missense variant	-	NC_000022.11:g.36288302A>C	gnomAD
rs750410479	p.Ser1628Leu	missense variant	-	NC_000022.11:g.36288301G>A	ExAC,gnomAD
rs752028844	p.Arg1633Gln	missense variant	-	NC_000022.11:g.36288286C>T	ExAC,TOPMed,gnomAD
rs757547632	p.Arg1633Trp	missense variant	-	NC_000022.11:g.36288287G>A	ExAC,TOPMed,gnomAD
rs1439083724	p.Glu1635Lys	missense variant	-	NC_000022.11:g.36288281C>T	gnomAD
rs753280815	p.Ile1637Met	missense variant	-	NC_000022.11:g.36288273G>C	ExAC,TOPMed,gnomAD
rs765615821	p.Lys1638Arg	missense variant	-	NC_000022.11:g.36288271T>C	ExAC,TOPMed,gnomAD
RCV000155935	p.Leu1643Met	missense variant	-	NC_000022.11:g.36288257G>T	ClinVar
rs727504669	p.Leu1643Met	missense variant	-	NC_000022.11:g.36288257G>T	TOPMed,gnomAD
rs727504669	p.Leu1643Val	missense variant	-	NC_000022.11:g.36288257G>C	TOPMed,gnomAD
rs758485116	p.Cys1650Arg	missense variant	-	NC_000022.11:g.36286831A>G	ExAC,TOPMed,gnomAD
RCV000512726	p.Met1651Thr	missense variant	-	NC_000022.11:g.36286827A>G	ClinVar
rs1452965691	p.Met1651Ile	missense variant	-	NC_000022.11:g.36286826C>T	TOPMed
rs142094977	p.Met1651Thr	missense variant	-	NC_000022.11:g.36286827A>G	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000283777	p.Arg1652His	missense variant	MYH9-related disorder	NC_000022.11:g.36286824C>T	ClinVar
RCV000378271	p.Arg1652His	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36286824C>T	ClinVar
rs779135945	p.Arg1652His	missense variant	-	NC_000022.11:g.36286824C>T	ExAC,TOPMed,gnomAD
rs1247989971	p.Arg1652Cys	missense variant	-	NC_000022.11:g.36286825G>A	gnomAD
rs780486984	p.Glu1653Gly	missense variant	-	NC_000022.11:g.36286821T>C	ExAC,gnomAD
rs375322236	p.Glu1653Gln	missense variant	-	NC_000022.11:g.36286822C>G	ESP,ExAC,TOPMed,gnomAD
rs1035118799	p.Glu1653Asp	missense variant	-	NC_000022.11:g.36286820C>G	gnomAD
rs375322236	p.Glu1653Lys	missense variant	-	NC_000022.11:g.36286822C>T	ESP,ExAC,TOPMed,gnomAD
COSM4842779	p.Leu1654Met	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36286819G>T	NCI-TCGA Cosmic
rs751002241	p.Asp1655His	missense variant	-	NC_000022.11:g.36286816C>G	ExAC,TOPMed,gnomAD
rs1228426500	p.Asp1655Val	missense variant	-	NC_000022.11:g.36286815T>A	gnomAD
rs751002241	p.Asp1655Asn	missense variant	-	NC_000022.11:g.36286816C>T	ExAC,TOPMed,gnomAD
rs1228426500	p.Asp1655Gly	missense variant	-	NC_000022.11:g.36286815T>C	gnomAD
RCV000657996	p.Asp1655Asn	missense variant	-	NC_000022.11:g.36286816C>T	ClinVar
rs763871537	p.Asp1656Asn	missense variant	-	NC_000022.11:g.36286813C>T	ExAC,gnomAD
rs752423809	p.Thr1657Ser	missense variant	-	NC_000022.11:g.36286810T>A	ExAC,gnomAD
rs752423809	p.Thr1657Ala	missense variant	-	NC_000022.11:g.36286810T>C	ExAC,gnomAD
rs375515914	p.Arg1658His	missense variant	-	NC_000022.11:g.36286806C>T	ESP,ExAC,TOPMed,gnomAD
RCV000323686	p.Arg1658Cys	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36286807G>A	ClinVar
RCV000287421	p.Arg1658Cys	missense variant	MYH9-related disorder	NC_000022.11:g.36286807G>A	ClinVar
rs375515914	p.Arg1658Leu	missense variant	-	NC_000022.11:g.36286806C>A	ESP,ExAC,TOPMed,gnomAD
rs143972348	p.Arg1658Cys	missense variant	-	NC_000022.11:g.36286807G>A	ESP,ExAC,gnomAD
rs371410108	p.Ala1659Thr	missense variant	-	NC_000022.11:g.36286804C>T	ESP,ExAC,TOPMed,gnomAD
rs773424441	p.Arg1661His	missense variant	-	NC_000022.11:g.36286797C>T	ExAC,gnomAD
rs760844584	p.Arg1661Gly	missense variant	-	NC_000022.11:g.36286798G>C	ExAC,TOPMed,gnomAD
rs760844584	p.Arg1661Cys	missense variant	-	NC_000022.11:g.36286798G>A	ExAC,TOPMed,gnomAD
rs772398702	p.Glu1663Asp	missense variant	-	NC_000022.11:g.36286790C>A	ExAC,TOPMed,gnomAD
rs377635445	p.Ile1664Phe	missense variant	-	NC_000022.11:g.36286789T>A	ESP,ExAC,gnomAD
rs1249120328	p.Ala1666Val	missense variant	-	NC_000022.11:g.36286782G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Gln1667Leu	missense variant	-	NC_000022.11:g.36286779T>A	NCI-TCGA
rs953819948	p.Gln1667Arg	missense variant	-	NC_000022.11:g.36286779T>C	TOPMed,gnomAD
rs780540448	p.Glu1672Asp	missense variant	-	NC_000022.11:g.36286763C>G	ExAC,gnomAD
rs751126110	p.Lys1674Gln	missense variant	-	NC_000022.11:g.36286759T>G	ExAC,gnomAD
rs777123889	p.Leu1675Val	missense variant	-	NC_000022.11:g.36286756G>C	ExAC
RCV000151322	p.Lys1676Glu	missense variant	-	NC_000022.11:g.36286753T>C	ClinVar
RCV000416222	p.Lys1676Glu	missense variant	-	NC_000022.11:g.36286753T>C	ClinVar
rs138158369	p.Lys1676Glu	missense variant	-	NC_000022.11:g.36286753T>C	ESP,ExAC,TOPMed,gnomAD
rs1384893810	p.Ser1677Asn	missense variant	-	NC_000022.11:g.36286749C>T	gnomAD
rs752323799	p.Met1678Thr	missense variant	-	NC_000022.11:g.36286746A>G	ExAC,TOPMed,gnomAD
rs1458660141	p.Glu1681Lys	missense variant	-	NC_000022.11:g.36286738C>T	gnomAD
rs1370183447	p.Glu1681Gly	missense variant	-	NC_000022.11:g.36286737T>C	gnomAD
rs1213429367	p.Glu1681Asp	missense variant	-	NC_000022.11:g.36286736C>G	TOPMed
rs1166802611	p.Met1682Ile	missense variant	-	NC_000022.11:g.36286733C>T	gnomAD
RCV000778658	p.Gln1684Ter	nonsense	MYH9-related disorder	NC_000022.11:g.36286729G>A	ClinVar
rs1476506044	p.Gln1684Arg	missense variant	-	NC_000022.11:g.36286728T>C	TOPMed
rs759419549	p.Gln1686Glu	missense variant	-	NC_000022.11:g.36286723G>C	ExAC,gnomAD
rs753622711	p.Gln1686His	missense variant	-	NC_000022.11:g.36286721C>G	ExAC,gnomAD
rs1176044018	p.Glu1687Lys	missense variant	-	NC_000022.11:g.36286720C>T	TOPMed
rs766492630	p.Glu1687Gly	missense variant	-	NC_000022.11:g.36286719T>C	ExAC,TOPMed,gnomAD
rs766242101	p.Glu1688Gly	missense variant	-	NC_000022.11:g.36285952T>C	ExAC
rs756166401	p.Ala1690Val	missense variant	-	NC_000022.11:g.36285946G>A	ExAC,gnomAD
rs1326861970	p.Ala1690Ser	missense variant	-	NC_000022.11:g.36285947C>A	gnomAD
rs1447964555	p.Ala1691Val	missense variant	-	NC_000022.11:g.36285943G>A	gnomAD
rs558195536	p.Ala1692Val	missense variant	-	NC_000022.11:g.36285940G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs767426084	p.Ala1692Thr	missense variant	-	NC_000022.11:g.36285941C>T	ExAC,TOPMed,gnomAD
RCV000735682	p.Arg1694His	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36285934C>T	ClinVar
rs142904663	p.Arg1694Cys	missense variant	-	NC_000022.11:g.36285935G>A	ESP,ExAC,TOPMed,gnomAD
rs538330756	p.Arg1694Leu	missense variant	-	NC_000022.11:g.36285934C>A	1000Genomes,ExAC,TOPMed,gnomAD
rs538330756	p.Arg1694His	missense variant	-	NC_000022.11:g.36285934C>T	1000Genomes,ExAC,TOPMed,gnomAD
rs184358592	p.Ala1695Val	missense variant	-	NC_000022.11:g.36285931G>A	1000Genomes
rs372871106	p.Arg1697Cys	missense variant	-	NC_000022.11:g.36285926G>A	ESP,ExAC,gnomAD
rs746191750	p.Arg1697His	missense variant	-	NC_000022.11:g.36285925C>T	ExAC,gnomAD
rs777009050	p.Ala1699Thr	missense variant	-	NC_000022.11:g.36285920C>T	ExAC,gnomAD
rs754714910	p.Arg1703Gln	missense variant	-	NC_000022.11:g.36285907C>T	ExAC,TOPMed,gnomAD
RCV000156181	p.Arg1703Trp	missense variant	-	NC_000022.11:g.36285908G>A	ClinVar
rs569541375	p.Arg1703Trp	missense variant	-	NC_000022.11:g.36285908G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1455486202	p.Asp1704Gly	missense variant	-	NC_000022.11:g.36285904T>C	TOPMed
rs1351689578	p.Glu1709Lys	missense variant	-	NC_000022.11:g.36285890C>T	gnomAD
rs770437113	p.Ile1710Val	missense variant	-	NC_000022.11:g.36285887T>C	ExAC,TOPMed,gnomAD
rs757217190	p.Ala1711Thr	missense variant	-	NC_000022.11:g.36285884C>T	ExAC,TOPMed,gnomAD
rs757217190	p.Ala1711Ser	missense variant	-	NC_000022.11:g.36285884C>A	ExAC,TOPMed,gnomAD
rs751632674	p.Asn1712His	missense variant	-	NC_000022.11:g.36285881T>G	ExAC,gnomAD
rs751632674	p.Asn1712Asp	missense variant	-	NC_000022.11:g.36285881T>C	ExAC,gnomAD
rs985388904	p.Asn1712Ser	missense variant	-	NC_000022.11:g.36285880T>C	TOPMed,gnomAD
RCV000454246	p.Ser1713Gly	missense variant	Autosomal recessive non-syndromic sensorineural deafness type DFNB	NC_000022.11:g.36285878T>C	ClinVar
rs764139009	p.Ser1713Gly	missense variant	-	NC_000022.11:g.36285878T>C	ExAC,TOPMed,gnomAD
rs968577844	p.Ser1713Asn	missense variant	-	NC_000022.11:g.36285877C>T	TOPMed,gnomAD
rs1389598882	p.Ser1714Gly	missense variant	-	NC_000022.11:g.36285875T>C	gnomAD
RCV000155173	p.Gly1715Ser	missense variant	-	NC_000022.11:g.36285872C>T	ClinVar
rs148109368	p.Gly1715Ser	missense variant	-	NC_000022.11:g.36285872C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000357489	p.Gly1715Ser	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36285872C>T	ClinVar
RCV000265008	p.Gly1715Ser	missense variant	MYH9-related disorder	NC_000022.11:g.36285872C>T	ClinVar
rs1276833575	p.Ala1718Thr	missense variant	-	NC_000022.11:g.36285780C>T	TOPMed,gnomAD
rs1049266169	p.Ala1720Val	missense variant	-	NC_000022.11:g.36285773G>A	TOPMed,gnomAD
rs745513016	p.Ala1720Ser	missense variant	-	NC_000022.11:g.36285774C>A	ExAC,TOPMed,gnomAD
rs1345777013	p.Glu1723Asp	missense variant	-	NC_000022.11:g.36285763C>A	gnomAD
rs770791825	p.Lys1724Arg	missense variant	-	NC_000022.11:g.36285761T>C	ExAC,TOPMed,gnomAD
rs547770783	p.Arg1725Trp	missense variant	-	NC_000022.11:g.36285759G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs993895986	p.Arg1725Gln	missense variant	-	NC_000022.11:g.36285758C>T	gnomAD
rs777701033	p.Arg1726His	missense variant	-	NC_000022.11:g.36285755C>T	ExAC,gnomAD
rs375070090	p.Arg1726Cys	missense variant	-	NC_000022.11:g.36285756G>A	ESP,TOPMed
rs373380499	p.Leu1727Met	missense variant	-	NC_000022.11:g.36285753G>T	ESP,TOPMed,gnomAD
rs1430285550	p.Glu1728Gly	missense variant	-	NC_000022.11:g.36285749T>C	gnomAD
rs140662138	p.Ala1729Ser	missense variant	-	NC_000022.11:g.36285747C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000592360	p.Ala1729Ser	missense variant	-	NC_000022.11:g.36285747C>A	ClinVar
RCV000151321	p.Arg1730Cys	missense variant	-	NC_000022.11:g.36285744G>A	ClinVar
rs201021615	p.Arg1730Cys	missense variant	-	NC_000022.11:g.36285744G>A	ESP,ExAC,TOPMed,gnomAD
rs1254152525	p.Arg1730His	missense variant	-	NC_000022.11:g.36285743C>T	TOPMed,gnomAD
rs1442359956	p.Ile1731Asn	missense variant	-	NC_000022.11:g.36285740A>T	gnomAD
rs1205219578	p.Ile1731Val	missense variant	-	NC_000022.11:g.36285741T>C	TOPMed,gnomAD
COSM4103815	p.Ala1732Val	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36285737G>A	NCI-TCGA Cosmic
NCI-TCGA novel	p.Ala1732CysLeuLeuGlnLysIleHisSer	insertion	-	NC_000022.11:g.36285736_36285737insCTATGTATTTTTTGAAGGAGGCAA	NCI-TCGA
rs1050130268	p.Ala1732Thr	missense variant	-	NC_000022.11:g.36285738C>T	gnomAD
rs1050130268	p.Ala1732Ser	missense variant	-	NC_000022.11:g.36285738C>A	gnomAD
rs761101755	p.Leu1734Val	missense variant	-	NC_000022.11:g.36285732G>C	ExAC,gnomAD
NCI-TCGA novel	p.Glu1741Ter	stop gained	-	NC_000022.11:g.36285711C>A	NCI-TCGA
NCI-TCGA novel	p.Gly1743Cys	missense variant	-	NC_000022.11:g.36285705C>A	NCI-TCGA
rs545556195	p.Thr1745Met	missense variant	-	NC_000022.11:g.36285698G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs768208950	p.Thr1745Ala	missense variant	-	NC_000022.11:g.36285699T>C	ExAC,gnomAD
rs764827587	p.Glu1746Asp	missense variant	-	NC_000022.11:g.36285694C>G	ExAC,gnomAD
rs979268761	p.Ile1748Phe	missense variant	-	NC_000022.11:g.36285690T>A	TOPMed
rs1156676703	p.Ile1748Thr	missense variant	-	NC_000022.11:g.36285689A>G	gnomAD
rs776352474	p.Asp1750His	missense variant	-	NC_000022.11:g.36285684C>G	ExAC,TOPMed,gnomAD
rs776352474	p.Asp1750Asn	missense variant	-	NC_000022.11:g.36285684C>T	ExAC,TOPMed,gnomAD
rs746864370	p.Arg1751Leu	missense variant	-	NC_000022.11:g.36285680C>A	ExAC,gnomAD
rs770433607	p.Arg1751Trp	missense variant	-	NC_000022.11:g.36285681G>A	ExAC,TOPMed,gnomAD
rs746864370	p.Arg1751Gln	missense variant	-	NC_000022.11:g.36285680C>T	ExAC,gnomAD
rs1228082998	p.Asn1756Thr	missense variant	-	NC_000022.11:g.36285665T>G	TOPMed
rs778663396	p.Leu1757Met	missense variant	-	NC_000022.11:g.36285663G>T	ExAC,TOPMed,gnomAD
rs183105164	p.Ile1759Met	missense variant	-	NC_000022.11:g.36285327G>C	1000Genomes,ExAC,TOPMed,gnomAD
NCI-TCGA novel	p.Asp1760Tyr	missense variant	-	NC_000022.11:g.36285326C>A	NCI-TCGA
rs1026560650	p.Asp1760Asn	missense variant	-	NC_000022.11:g.36285326C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Gln1761Leu	missense variant	-	NC_000022.11:g.36285322T>A	NCI-TCGA
rs779971012	p.Asp1765Asn	missense variant	-	NC_000022.11:g.36285311C>T	ExAC,TOPMed,gnomAD
rs966637024	p.Asn1767Lys	missense variant	-	NC_000022.11:g.36285303G>T	gnomAD
NCI-TCGA novel	p.Glu1769Asp	missense variant	-	NC_000022.11:g.36285297C>A	NCI-TCGA
rs746118702	p.Arg1770Leu	missense variant	-	NC_000022.11:g.36285295C>A	ExAC,gnomAD
RCV000656460	p.Arg1770Cys	missense variant	Hemangioma, capillary infantile (HCI)	NC_000022.11:g.36285296G>A	ClinVar
rs746118702	p.Arg1770His	missense variant	-	NC_000022.11:g.36285295C>T	ExAC,gnomAD
rs1430793034	p.Arg1770Cys	missense variant	-	NC_000022.11:g.36285296G>A	gnomAD
NCI-TCGA novel	p.His1772Asn	missense variant	-	NC_000022.11:g.36285290G>T	NCI-TCGA
rs1455355336	p.His1772Tyr	missense variant	-	NC_000022.11:g.36285290G>A	TOPMed
NCI-TCGA novel	p.Ala1773SerPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36285287_36285288insT	NCI-TCGA
rs190450967	p.Ala1773Thr	missense variant	-	NC_000022.11:g.36285287C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs190450967	p.Ala1773Ser	missense variant	-	NC_000022.11:g.36285287C>A	1000Genomes,ESP,ExAC,TOPMed,gnomAD
rs1443684692	p.Gln1774Arg	missense variant	-	NC_000022.11:g.36285283T>C	TOPMed
RCV000037567	p.Lys1775Glu	missense variant	-	NC_000022.11:g.36285281T>C	ClinVar
RCV000315373	p.Lys1775Glu	missense variant	MYH9-related disorder	NC_000022.11:g.36285281T>C	ClinVar
rs145139708	p.Lys1775Glu	missense variant	-	NC_000022.11:g.36285281T>C	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000353893	p.Lys1775Glu	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36285281T>C	ClinVar
RCV000514769	p.Lys1775Glu	missense variant	-	NC_000022.11:g.36285281T>C	ClinVar
rs764719958	p.Asn1776Lys	missense variant	-	NC_000022.11:g.36285276G>T	ExAC,gnomAD
rs758825898	p.Glu1777Gln	missense variant	-	NC_000022.11:g.36285275C>G	ExAC,gnomAD
rs1271830093	p.Asn1778Thr	missense variant	-	NC_000022.11:g.36285271T>G	TOPMed,gnomAD
rs1271830093	p.Asn1778Ser	missense variant	-	NC_000022.11:g.36285271T>C	TOPMed,gnomAD
rs547342920	p.Ala1779Val	missense variant	-	NC_000022.11:g.36285268G>A	1000Genomes,ExAC,gnomAD
rs527571090	p.Arg1780Trp	missense variant	-	NC_000022.11:g.36285266G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs760128307	p.Arg1780Gln	missense variant	-	NC_000022.11:g.36285265C>T	ExAC,TOPMed,gnomAD
rs767085768	p.Glu1784Gln	missense variant	-	NC_000022.11:g.36285254C>G	ExAC,gnomAD
rs761606303	p.Arg1785Cys	missense variant	-	NC_000022.11:g.36285251G>A	ExAC,gnomAD
rs774015925	p.Arg1785His	missense variant	-	NC_000022.11:g.36285250C>T	ExAC,gnomAD
rs768683494	p.Gln1786His	missense variant	-	NC_000022.11:g.36285246C>G	ExAC,gnomAD
rs768683494	p.Gln1786His	missense variant	-	NC_000022.11:g.36285246C>A	ExAC,gnomAD
rs201463106	p.Asn1787Lys	missense variant	-	NC_000022.11:g.36285243G>T	1000Genomes,ExAC,TOPMed,gnomAD
rs775451903	p.Lys1788Arg	missense variant	-	NC_000022.11:g.36285241T>C	ExAC,TOPMed,gnomAD
rs1374075151	p.Leu1790His	missense variant	-	NC_000022.11:g.36285235A>T	gnomAD
rs141440715	p.Lys1793Arg	missense variant	-	NC_000022.11:g.36285226T>C	ESP,ExAC,TOPMed,gnomAD
rs745879035	p.Gln1795Arg	missense variant	-	NC_000022.11:g.36285220T>C	ExAC,TOPMed,gnomAD
rs1431863120	p.Gln1795Ter	stop gained	-	NC_000022.11:g.36285221G>A	TOPMed,gnomAD
NCI-TCGA novel	p.Glu1796Asp	missense variant	-	NC_000022.11:g.36285216C>G	NCI-TCGA
rs771266540	p.Gly1799Ser	missense variant	-	NC_000022.11:g.36285209C>T	ExAC,TOPMed,gnomAD
rs1196963679	p.Thr1800Pro	missense variant	-	NC_000022.11:g.36285206T>G	gnomAD
rs777968148	p.Tyr1805Cys	missense variant	-	NC_000022.11:g.36285190T>C	ExAC,gnomAD
rs1283662976	p.Lys1806Arg	missense variant	-	NC_000022.11:g.36285187T>C	gnomAD
rs758992217	p.Ala1807Gly	missense variant	-	NC_000022.11:g.36285184G>C	ExAC,gnomAD
rs1181032318	p.Ser1808Pro	missense variant	-	NC_000022.11:g.36285182A>G	TOPMed
rs779350077	p.Thr1810Ala	missense variant	-	NC_000022.11:g.36285176T>C	ExAC,gnomAD
rs1393158636	p.Thr1810Ile	missense variant	-	NC_000022.11:g.36285175G>A	gnomAD
rs1302814429	p.Ala1811Thr	missense variant	-	NC_000022.11:g.36285173C>T	gnomAD
rs761427754	p.Glu1813Gln	missense variant	-	NC_000022.11:g.36285167C>G	ExAC,TOPMed,gnomAD
rs761427754	p.Glu1813Lys	missense variant	-	NC_000022.11:g.36285167C>T	ExAC,TOPMed,gnomAD
rs751423187	p.Ala1814Val	missense variant	-	NC_000022.11:g.36285163G>A	ExAC,gnomAD
rs1177594750	p.Ala1814Ser	missense variant	-	NC_000022.11:g.36285164C>A	gnomAD
rs763821179	p.Lys1815Asn	missense variant	-	NC_000022.11:g.36285159C>G	ExAC,gnomAD
rs762773112	p.Ile1816Val	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36285158T>C	UniProt,dbSNP
VAR_030385	p.Ile1816Val	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36285158T>C	UniProt
rs762773112	p.Ile1816Val	missense variant	-	NC_000022.11:g.36285158T>C	ExAC,TOPMed,gnomAD
rs1045546652	p.Ile1816Met	missense variant	-	NC_000022.11:g.36285156A>C	gnomAD
RCV000394413	p.Leu1819Arg	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36285148A>C	ClinVar
RCV000787013	p.Leu1819Arg	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36285148A>C	ClinVar
RCV000368697	p.Leu1819Arg	missense variant	MYH9-related disorder	NC_000022.11:g.36285148A>C	ClinVar
rs368440234	p.Leu1819Arg	missense variant	-	NC_000022.11:g.36285148A>C	ESP,ExAC,TOPMed,gnomAD
rs1314576202	p.Glu1821Gly	missense variant	-	NC_000022.11:g.36285142T>C	TOPMed,gnomAD
rs1398061733	p.Gln1822Arg	missense variant	-	NC_000022.11:g.36285139T>C	gnomAD
rs376154206	p.Asp1824Asn	missense variant	-	NC_000022.11:g.36285134C>T	ESP,ExAC,gnomAD
rs1294169279	p.Asn1825Asp	missense variant	-	NC_000022.11:g.36285131T>C	TOPMed
rs1207813513	p.Asn1825Ser	missense variant	-	NC_000022.11:g.36285130T>C	gnomAD
rs747177367	p.Asn1825Lys	missense variant	-	NC_000022.11:g.36285129G>C	ExAC,TOPMed,gnomAD
rs1246675242	p.Glu1826Lys	missense variant	-	NC_000022.11:g.36285128C>T	TOPMed
NCI-TCGA novel	p.Lys1828AsnPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36284511_36284512insTTGGTCTCGTTGTCCAG	NCI-TCGA
NCI-TCGA novel	p.Lys1828AsnPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36284511_36284512insTTGGTCTCGTTGTCCAGCTGCTCCTCCAG	NCI-TCGA
NCI-TCGA novel	p.Glu1829ProPheSerTerUnkUnk	frameshift	-	NC_000022.11:g.36284511_36284512insTTGGT	NCI-TCGA
rs966415372	p.Arg1830Leu	missense variant	-	NC_000022.11:g.36284506C>A	TOPMed,gnomAD
rs966415372	p.Arg1830His	missense variant	-	NC_000022.11:g.36284506C>T	TOPMed,gnomAD
NCI-TCGA novel	p.Ala1832Thr	missense variant	-	NC_000022.11:g.36284501C>T	NCI-TCGA
rs766271245	p.Gln1836His	missense variant	-	NC_000022.11:g.36284487C>A	ExAC,TOPMed,gnomAD
rs1361735292	p.Gln1836Arg	missense variant	-	NC_000022.11:g.36284488T>C	gnomAD
rs766271245	p.Gln1836His	missense variant	-	NC_000022.11:g.36284487C>G	ExAC,TOPMed,gnomAD
rs1228388790	p.Val1837Met	missense variant	-	NC_000022.11:g.36284486C>T	gnomAD
rs1177354745	p.Val1837Gly	missense variant	-	NC_000022.11:g.36284485A>C	TOPMed,gnomAD
rs1228543932	p.Arg1838His	missense variant	-	NC_000022.11:g.36284482C>T	TOPMed,gnomAD
rs1272298108	p.Arg1838Cys	missense variant	-	NC_000022.11:g.36284483G>A	gnomAD
rs760681627	p.Arg1839Gln	missense variant	-	NC_000022.11:g.36284479C>T	ExAC,gnomAD
rs1330177690	p.Arg1839Trp	missense variant	-	NC_000022.11:g.36284480G>A	gnomAD
rs1406367468	p.Thr1840Ile	missense variant	-	NC_000022.11:g.36284476G>A	gnomAD
RCV000790361	p.Glu1841Lys	missense variant	MYH9-related disorder	NC_000022.11:g.36284474C>T	ClinVar
RCV000015119	p.Glu1841Lys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36284474C>T	ClinVar
rs80338834	p.Glu1841Lys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36284474C>T	UniProt,dbSNP
VAR_010797	p.Glu1841Lys	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36284474C>T	UniProt
rs80338834	p.Glu1841Lys	missense variant	-	NC_000022.11:g.36284474C>T	-
rs773325666	p.Glu1841Asp	missense variant	-	NC_000022.11:g.36284472C>G	ExAC,gnomAD
rs1421499073	p.Leu1844Met	missense variant	-	NC_000022.11:g.36284465G>T	gnomAD
rs1433454439	p.Lys1845Arg	missense variant	-	NC_000022.11:g.36284461T>C	TOPMed
rs201174456	p.Leu1848Val	missense variant	-	NC_000022.11:g.36284453G>C	ExAC,TOPMed,gnomAD
COSM1416037	p.Leu1849Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36284449A>G	NCI-TCGA Cosmic
NCI-TCGA novel	p.Asp1853GlyPheSerTerUnk	stop gained	-	NC_000022.11:g.36284437_36284438insCATC	NCI-TCGA
rs1269778199	p.Glu1854Lys	missense variant	-	NC_000022.11:g.36284435C>T	gnomAD
RCV000509305	p.Arg1855Trp	missense variant	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36284432G>A	ClinVar
rs746568745	p.Arg1855Gln	missense variant	-	NC_000022.11:g.36284431C>T	ExAC,gnomAD
rs1436597250	p.Arg1855Trp	missense variant	-	NC_000022.11:g.36284432G>A	gnomAD
rs1196851918	p.Arg1856Lys	missense variant	-	NC_000022.11:g.36284428C>T	gnomAD
rs1438662105	p.Asn1857Ile	missense variant	-	NC_000022.11:g.36284425T>A	TOPMed
rs758034745	p.Ala1858Thr	missense variant	-	NC_000022.11:g.36284423C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ala1858Val	missense variant	-	NC_000022.11:g.36284422G>A	NCI-TCGA
rs759956261	p.Glu1859Lys	missense variant	-	NC_000022.11:g.36284420C>T	ExAC,gnomAD
COSM3842601	p.Gln1864Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36284404T>G	NCI-TCGA Cosmic
rs371765378	p.Asp1866His	missense variant	-	NC_000022.11:g.36284262C>G	ESP,ExAC,TOPMed,gnomAD
rs371765378	p.Asp1866Asn	missense variant	-	NC_000022.11:g.36284262C>T	ESP,ExAC,TOPMed,gnomAD
rs1309992822	p.Lys1867Thr	missense variant	-	NC_000022.11:g.36284258T>G	TOPMed
NCI-TCGA novel	p.Ala1868AspPheSerTerUnk	frameshift	-	NC_000022.11:g.36284255G>-	NCI-TCGA
rs991522602	p.Ala1868Val	missense variant	-	NC_000022.11:g.36284255G>A	TOPMed,gnomAD
rs958621472	p.Thr1870Ala	missense variant	-	NC_000022.11:g.36284250T>C	TOPMed
rs1347124459	p.Arg1871His	missense variant	-	NC_000022.11:g.36284246C>T	TOPMed,gnomAD
rs1428890239	p.Arg1871Cys	missense variant	-	NC_000022.11:g.36284247G>A	gnomAD
NCI-TCGA novel	p.Leu1875Ile	missense variant	-	NC_000022.11:g.36284235G>T	NCI-TCGA
rs375674671	p.Arg1877Trp	missense variant	-	NC_000022.11:g.36284229G>A	ESP,ExAC,TOPMed,gnomAD
rs759777823	p.Arg1877Leu	missense variant	-	NC_000022.11:g.36284228C>A	ExAC,TOPMed,gnomAD
rs759777823	p.Arg1877Gln	missense variant	-	NC_000022.11:g.36284228C>T	ExAC,TOPMed,gnomAD
RCV000782240	p.Arg1877Gln	missense variant	-	NC_000022.11:g.36284228C>T	ClinVar
COSM1484204	p.Gln1878Ter	stop gained	Variant assessed as Somatic; HIGH impact.	NC_000022.11:g.36284226G>A	NCI-TCGA Cosmic
rs1383426298	p.Leu1879Val	missense variant	-	NC_000022.11:g.36284223G>C	gnomAD
rs1355600745	p.Ala1882Thr	missense variant	-	NC_000022.11:g.36284214C>T	TOPMed
rs1261555310	p.Glu1883Lys	missense variant	-	NC_000022.11:g.36284211C>T	gnomAD
NCI-TCGA novel	p.Glu1884Gln	missense variant	-	NC_000022.11:g.36284208C>G	NCI-TCGA
rs761463265	p.Glu1884Asp	missense variant	-	NC_000022.11:g.36284206C>G	ExAC,TOPMed,gnomAD
rs578002660	p.Arg1888Trp	missense variant	-	NC_000022.11:g.36284196G>A	1000Genomes,ExAC,TOPMed,gnomAD
rs1489663673	p.Arg1888Gln	missense variant	-	NC_000022.11:g.36284195C>T	gnomAD
rs748946434	p.Ala1891Thr	missense variant	-	NC_000022.11:g.36284187C>T	ExAC,TOPMed,gnomAD
rs1368379611	p.Ser1892Ala	missense variant	-	NC_000022.11:g.36284184A>C	TOPMed
rs1450702017	p.Ser1892Phe	missense variant	-	NC_000022.11:g.36284183G>A	TOPMed
rs372051836	p.Arg1894Trp	missense variant	-	NC_000022.11:g.36284178G>A	ESP,ExAC,gnomAD
rs745596166	p.Arg1894Gln	missense variant	-	NC_000022.11:g.36284177C>T	ExAC,gnomAD
rs1180813769	p.Lys1895Gln	missense variant	-	NC_000022.11:g.36284175T>G	gnomAD
NCI-TCGA novel	p.Arg1898Cys	missense variant	-	NC_000022.11:g.36284166G>A	NCI-TCGA
RCV000762069	p.Glu1899Lys	missense variant	-	NC_000022.11:g.36284163C>T	ClinVar
rs191342427	p.Glu1899Gly	missense variant	-	NC_000022.11:g.36284162T>C	1000Genomes,ExAC,gnomAD
rs747131828	p.Glu1899Lys	missense variant	-	NC_000022.11:g.36284163C>T	ExAC,TOPMed,gnomAD
rs758424895	p.Asp1902Tyr	missense variant	-	NC_000022.11:g.36284154C>A	ExAC,gnomAD
rs1429282349	p.Ala1903Val	missense variant	-	NC_000022.11:g.36284150G>A	TOPMed
rs558056055	p.Ala1903Thr	missense variant	-	NC_000022.11:g.36284151C>T	1000Genomes,ExAC,gnomAD
rs754138115	p.Thr1904Ala	missense variant	-	NC_000022.11:g.36284148T>C	ExAC,gnomAD
rs767057323	p.Thr1904Ile	missense variant	-	NC_000022.11:g.36284147G>A	ExAC,TOPMed,gnomAD
rs368149181	p.Glu1905Gln	missense variant	-	NC_000022.11:g.36284145C>G	ESP,ExAC,TOPMed,gnomAD
rs774051540	p.Glu1905Gly	missense variant	-	NC_000022.11:g.36284144T>C	ExAC,gnomAD
rs774051540	p.Glu1905Ala	missense variant	-	NC_000022.11:g.36284144T>G	ExAC,gnomAD
COSM1033832	p.Thr1906Pro	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36284142T>G	NCI-TCGA Cosmic
RCV000392449	p.Thr1906Met	missense variant	MYH9-related disorder	NC_000022.11:g.36284141G>A	ClinVar
rs1479216148	p.Thr1906Ala	missense variant	-	NC_000022.11:g.36284142T>C	TOPMed,gnomAD
RCV000343175	p.Thr1906Met	missense variant	Nonsyndromic Hearing Loss, Dominant	NC_000022.11:g.36284141G>A	ClinVar
rs149663189	p.Thr1906Met	missense variant	-	NC_000022.11:g.36284141G>A	ESP,ExAC,TOPMed,gnomAD
rs1222570347	p.Ala1907Val	missense variant	-	NC_000022.11:g.36284138G>A	gnomAD
rs1226192819	p.Asp1908Asn	missense variant	-	NC_000022.11:g.36284136C>T	TOPMed
NCI-TCGA novel	p.Ala1909Val	missense variant	-	NC_000022.11:g.36284132G>A	NCI-TCGA
NCI-TCGA novel	p.Met1910Ile	missense variant	-	NC_000022.11:g.36284128C>A	NCI-TCGA
rs769321758	p.Met1910Val	missense variant	-	NC_000022.11:g.36284130T>C	ExAC,gnomAD
COSM283039	p.Arg1912His	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36284123C>T	NCI-TCGA Cosmic
COSM1033831	p.Arg1912Cys	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36284124G>A	NCI-TCGA Cosmic
rs776378927	p.Glu1913Lys	missense variant	-	NC_000022.11:g.36284121C>T	ExAC,gnomAD
NCI-TCGA novel	p.Ser1916Phe	missense variant	-	NC_000022.11:g.36284111G>A	NCI-TCGA
rs1396459914	p.Leu1917GlnHisSerTrpGlyProAsnIlePheAsnGlyTerGlyThrCysUnk	stop gained	-	NC_000022.11:g.36284109_36284110insCAAGTCCCTTAACCATTAAATATATTTGGTCCCCAAGAGTGTTG	gnomAD
rs1296987223	p.Asn1919Thr	missense variant	-	NC_000022.11:g.36284102T>G	gnomAD
rs758475805	p.Lys1920Arg	missense variant	-	NC_000022.11:g.36284099T>C	ExAC,gnomAD
rs777646002	p.Lys1920Glu	missense variant	-	NC_000022.11:g.36284100T>C	ExAC,gnomAD
rs753492355	p.Arg1923Cys	missense variant	-	NC_000022.11:g.36282784G>A	ExAC,gnomAD
rs371476289	p.Gly1924Arg	missense variant	-	NC_000022.11:g.36282781C>T	ESP,ExAC,TOPMed,gnomAD
rs1161615308	p.Asp1925Asn	missense variant	-	NC_000022.11:g.36282778C>T	gnomAD
rs1446304219	p.Leu1926Met	missense variant	-	NC_000022.11:g.36282775G>T	gnomAD
rs1385709606	p.Pro1927Ser	missense variant	-	NC_000022.11:g.36282772G>A	gnomAD
rs772986357	p.Pro1927Leu	missense variant	-	NC_000022.11:g.36282771G>A	ExAC,TOPMed,gnomAD
rs142565774	p.Val1930Leu	missense variant	-	NC_000022.11:g.36282763C>A	ESP,ExAC,TOPMed,gnomAD
rs142565774	p.Val1930Met	missense variant	-	NC_000022.11:g.36282763C>T	ESP,ExAC,TOPMed,gnomAD
rs142565774	p.Val1930Leu	missense variant	-	NC_000022.11:g.36282763C>G	ESP,ExAC,TOPMed,gnomAD
rs1241143684	p.Pro1931Thr	missense variant	-	NC_000022.11:g.36282760G>T	TOPMed
rs1291058743	p.Arg1932His	missense variant	-	NC_000022.11:g.36282756C>T	gnomAD
RCV000790363	p.Arg1933Ter	nonsense	MYH9-related disorder	NC_000022.11:g.36282754G>A	ClinVar
rs906890636	p.Arg1933Gln	missense variant	-	NC_000022.11:g.36282753C>T	TOPMed
RCV000015116	p.Arg1933Ter	nonsense	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36282754G>A	ClinVar
rs80338835	p.Arg1933Ter	stop gained	-	NC_000022.11:g.36282754G>A	ExAC,gnomAD
rs1362216513	p.Ala1935Val	missense variant	-	NC_000022.11:g.36282747G>A	gnomAD
rs727503281	p.Arg1936Trp	missense variant	-	NC_000022.11:g.36282745G>A	ExAC,TOPMed,gnomAD
rs781388651	p.Arg1936Gln	missense variant	-	NC_000022.11:g.36282744C>T	ExAC,TOPMed,gnomAD
RCV000151318	p.Arg1936Trp	missense variant	-	NC_000022.11:g.36282745G>A	ClinVar
rs1324361146	p.Lys1937Arg	missense variant	-	NC_000022.11:g.36282741T>C	gnomAD
RCV000155172	p.Ala1939Thr	missense variant	-	NC_000022.11:g.36282736C>T	ClinVar
rs115031369	p.Ala1939Thr	missense variant	-	NC_000022.11:g.36282736C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000037571	p.Gly1940Arg	missense variant	-	NC_000022.11:g.36282733C>T	ClinVar
rs140588099	p.Gly1940Arg	missense variant	-	NC_000022.11:g.36282733C>T	1000Genomes,ESP,ExAC,TOPMed,gnomAD
RCV000015131	p.Asp1941Ter	frameshift	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss (MATINS)	NC_000022.11:g.36282733del	ClinVar
rs760289775	p.Asp1941Gly	missense variant	-	NC_000022.11:g.36282729T>C	ExAC,gnomAD
rs760289775	p.Asp1941Val	missense variant	-	NC_000022.11:g.36282729T>A	ExAC,gnomAD
NCI-TCGA novel	p.Gly1942Asp	missense variant	-	NC_000022.11:g.36282726C>T	NCI-TCGA
rs1403769723	p.Ser1943Phe	missense variant	-	NC_000022.11:g.36282723G>A	gnomAD
rs777918996	p.Asp1944Tyr	missense variant	-	NC_000022.11:g.36282721C>A	ExAC,gnomAD
rs761625286	p.Asp1944Glu	missense variant	-	NC_000022.11:g.36282719G>T	ExAC,gnomAD
rs777918996	p.Asp1944Asn	missense variant	-	NC_000022.11:g.36282721C>T	ExAC,gnomAD
rs1478233597	p.Glu1945Lys	missense variant	-	NC_000022.11:g.36282718C>T	TOPMed,gnomAD
rs774157099	p.Glu1946Val	missense variant	-	NC_000022.11:g.36282714T>A	ExAC
rs768628153	p.Val1947Leu	missense variant	-	NC_000022.11:g.36282712C>G	ExAC,gnomAD
rs768628153	p.Val1947Ile	missense variant	-	NC_000022.11:g.36282712C>T	ExAC,gnomAD
rs763195367	p.Asp1948His	missense variant	-	NC_000022.11:g.36282709C>G	ExAC,TOPMed,gnomAD
rs770189667	p.Ala1951Val	missense variant	-	NC_000022.11:g.36282699G>A	ExAC,TOPMed,gnomAD
rs775685559	p.Ala1951Thr	missense variant	-	NC_000022.11:g.36282700C>T	ExAC,TOPMed,gnomAD
rs1247127142	p.Asp1952Tyr	missense variant	-	NC_000022.11:g.36282697C>A	TOPMed,gnomAD
rs1247127142	p.Asp1952His	missense variant	-	NC_000022.11:g.36282697C>G	TOPMed,gnomAD
rs1272229371	p.Gly1953Ala	missense variant	-	NC_000022.11:g.36282693C>G	gnomAD
rs200652984	p.Gly1953Arg	missense variant	-	NC_000022.11:g.36282694C>T	1000Genomes,ExAC,gnomAD
COSM1416033	p.Ala1954Thr	missense variant	Variant assessed as Somatic; MODERATE impact.	NC_000022.11:g.36282691C>T	NCI-TCGA Cosmic
rs771206414	p.Lys1957Arg	missense variant	-	NC_000022.11:g.36282681T>C	ExAC,gnomAD
rs955332434	p.Pro1958Thr	missense variant	-	NC_000022.11:g.36282679G>T	TOPMed
rs747338693	p.Ala1959Thr	missense variant	-	NC_000022.11:g.36282676C>T	ExAC,gnomAD
rs149560153	p.Glu1960Lys	missense variant	-	NC_000022.11:g.36282673C>T	ESP,ExAC,TOPMed,gnomAD

Disease or phenotype associated information

Disease ID	Disease Name	Disease Type	Source
C0001418	Adenocarcinoma	group	BEFREE
C0002895	Anemia, Sickle Cell	disease	BEFREE
C0003615	Appendicitis	disease	BEFREE
C0003850	Arteriosclerosis	disease	BEFREE
C0004153	Atherosclerosis	disease	BEFREE
C0004364	Autoimmune Diseases	group	BEFREE
C0005129	Bernard-Soulier Syndrome	disease	BEFREE
C0005779	Blood Coagulation Disorders	group	BEFREE
C0005818	Blood Platelet Disorders	group	BEFREE
C0006142	Malignant neoplasm of breast	disease	BEFREE;CTD_human;UNIPROT
C0006826	Malignant Neoplasms	group	BEFREE
C0007131	Non-Small Cell Lung Carcinoma	disease	BEFREE
C0007137	Squamous cell carcinoma	disease	BEFREE
C0009402	Colorectal Carcinoma	disease	BEFREE
C0009691	Congenital cataract	disease	HPO
C0010828	Cytopenia	phenotype	GENOMICS_ENGLAND
C0011053	Deafness	phenotype	LHGDN
C0011847	Diabetes	disease	BEFREE
C0011849	Diabetes Mellitus	group	BEFREE
C0011860	Diabetes Mellitus, Non-Insulin-Dependent	disease	BEFREE
C0011881	Diabetic Nephropathy	disease	BEFREE;GWASCAT
C0014457	Eosinophilia	disease	BEFREE
C0014591	Epistaxis	phenotype	CLINVAR;HPO
C0015397	Disorder of eye	group	HPO
C0017181	Gastrointestinal Hemorrhage	phenotype	HPO
C0017658	Glomerulonephritis	disease	BEFREE
C0017661	IGA Glomerulonephritis	disease	BEFREE
C0017668	Focal glomerulosclerosis	disease	BEFREE;CTD_human;LHGDN
C0018780	Hearing Loss, High-Frequency	disease	HPO
C0018784	Sensorineural Hearing Loss (disorder)	disease	BEFREE
C0018965	Hematuria	phenotype	HPO
C0019340	Herpes NOS	disease	BEFREE
C0020538	Hypertensive disease	group	BEFREE;HPO
C0020544	Renal hypertension	disease	CTD_human
C0022658	Kidney Diseases	group	BEFREE;LHGDN
C0022661	Kidney Failure, Chronic	disease	BEFREE;CTD_human
C0023467	Leukemia, Myelocytic, Acute	disease	BEFREE
C0024143	Lupus Nephritis	disease	BEFREE
C0024623	Malignant neoplasm of stomach	disease	BEFREE
C0025323	Menorrhagia	phenotype	HPO
C0027051	Myocardial Infarction	disease	HPO
C0027626	Neoplasm Invasiveness	phenotype	CTD_human
C0027627	Neoplasm Metastasis	phenotype	BEFREE
C0027697	Nephritis	disease	BEFREE;HPO;LHGDN
C0027706	Hereditary nephritis	disease	CTD_human
C0027719	Nephrosclerosis	disease	BEFREE
C0027726	Nephrotic Syndrome	group	BEFREE
C0033687	Proteinuria	phenotype	HPO
C0035078	Kidney Failure	disease	BEFREE
C0036341	Schizophrenia	disease	BEFREE;PSYGENET
C0037054	Sickle Cell Trait	disease	BEFREE
C0039730	Thalassemia	group	BEFREE
C0040034	Thrombocytopenia	phenotype	BEFREE;CLINVAR;HPO;LHGDN
C0078911	AIDS-Associated Nephropathy	disease	BEFREE
C0085669	Acute leukemia	disease	BEFREE
C0085693	Acute appendicitis NOS (disorder)	disease	BEFREE
C0086432	Hyalinosis, Segmental Glomerular	disease	CTD_human
C0086445	Idiopathic Membranous Glomerulonephritis	disease	BEFREE
C0086543	Cataract	disease	BEFREE;GENOMICS_ENGLAND;HPO
C0151529	Prolonged bleeding time	phenotype	HPO
C0152451	Chronic glomerulonephritis	disease	BEFREE
C0155616	Secondary hypertension	disease	BEFREE
C0158646	Cleft palate with cleft lip	disease	BEFREE
C0158995	Congenital anemia	disease	GENOMICS_ENGLAND
C0178664	Glomerulosclerosis (disorder)	disease	BEFREE
C0206180	Ki-1+ Anaplastic Large Cell Lymphoma	disease	BEFREE;LHGDN
C0206692	Carcinoma, Lobular	disease	CTD_human
C0221271	Elastosis perforans serpiginosa	disease	BEFREE
C0239937	Microscopic hematuria	phenotype	HPO
C0264657	Renal sclerosis with hypertension	disease	BEFREE
C0268731	Renal glomerular disease	group	BEFREE
C0271441	Chronic otitis media	disease	BEFREE
C0272302	Gray Platelet Syndrome	disease	BEFREE
C0277792	Pathognomonic sign	phenotype	BEFREE
C0333864	Giant platelet (morphologic abnormality)	phenotype	HPO
C0339789	Congenital deafness	disease	BEFREE
C0340803	Capillary malformation (disorder)	disease	BEFREE
C0340978	May-Hegglin anomaly	phenotype	CLINVAR;MGD;UNIPROT
C0346629	Malignant neoplasm of large intestine	disease	BEFREE
C0349639	Juvenile Myelomonocytic Leukemia	disease	BEFREE
C0369183	Erythrocyte Mean Corpuscular Hemoglobin Test	phenotype	GWASCAT
C0392386	Decreased platelet count	phenotype	HPO
C0398641	Epstein syndrome (disorder)	disease	BEFREE;MGD;UNIPROT
C0403445	Fechtner syndrome (disorder)	disease	BEFREE;MGD;UNIPROT
C0410005	Nodular fasciitis	disease	ORPHANET
C0423798	Increased tendency to bruise	phenotype	HPO
C0424503	Dysmorphic facies	phenotype	CLINVAR
C0477317	Other primary thrombocytopenia	disease	MGD
C0497247	Increase in blood pressure	phenotype	CLINVAR;HPO
C0521707	Bilateral cataracts (disorder)	disease	BEFREE
C0524587	Mean Corpuscular Volume (result)	phenotype	GWASCAT
C0678222	Breast Carcinoma	disease	BEFREE;CTD_human
C0686619	Secondary malignant neoplasm of lymph node	disease	BEFREE
C0699791	Stomach Carcinoma	disease	BEFREE
C0810364	Cleft Lip with or without Cleft Palate	disease	BEFREE
C0848765	Hearing disability	disease	BEFREE
C0855740	Abnormal platelet function	phenotype	CLINVAR
C0855742	Abnormal platelet morphology	phenotype	CLINVAR
C1096367	Increased mean platelet volume	phenotype	CLINVAR
C1257931	Mammary Neoplasms, Human	group	CTD_human
C1261502	Finding of Mean Corpuscular Hemoglobin	phenotype	GWASCAT
C1285654	Memory performance	phenotype	GWASCAT
C1302790	Congenital malformation syndrome	group	BEFREE
C1305904	Familial hematuria	disease	BEFREE;GENOMICS_ENGLAND
C1306459	Primary malignant neoplasm	group	BEFREE
C1306759	Eosinophilic disorder	group	BEFREE
C1318020	Stromal keratitis	disease	BEFREE
C1384666	hearing impairment	phenotype	LHGDN
C1458155	Mammary Neoplasms	group	CTD_human
C1510497	Lens Opacities	phenotype	HPO
C1527249	Colorectal Cancer	disease	BEFREE
C1561643	Chronic Kidney Diseases	group	BEFREE
C1563715	Andersen Syndrome	disease	BEFREE
C1565489	Renal Insufficiency	disease	BEFREE
C1567741	Alport Syndrome	disease	BEFREE;CTD_human
C1567742	Alport Syndrome, X-Linked	disease	BEFREE;CTD_human
C1567743	Alport Syndrome, Autosomal Dominant	disease	CTD_human
C1567744	Alport Syndrome, Autosomal Recessive	disease	CTD_human
C1709661	Primary Focal Segmental Glomerulosclerosis	disease	BEFREE
C1834478	MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS	disease	CTD_human;UNIPROT
C1839163	THROMBOCYTOPENIA 1 (disorder)	disease	BEFREE
C1843156	Progressive sensorineural hearing impairment	disease	BEFREE;HPO
C1854520	SEBASTIAN SYNDROME	disease	BEFREE;CTD_human;MGD;ORPHANET;UNIPROT
C1859726	ARTERIAL TORTUOSITY SYNDROME	disease	BEFREE
C1861185	THROMBOCYTOPENIA 2 (disorder)	disease	BEFREE
C1861512	Cochleosaccular degeneration of the inner ear and progressive cataracts	disease	BEFREE
C1861537	OROFACIAL CLEFT 1	disease	BEFREE
C1863659	DEAFNESS, AUTOSOMAL DOMINANT 17	disease	BEFREE;CLINVAR;CTD_human;UNIPROT
C1863660	COCHLEOSACCULAR DEGENERATION	phenotype	UNIPROT
C1868684	EAR, PATELLA, SHORT STATURE SYNDROME	disease	BEFREE
C1963185	Obesity Adverse Event	phenotype	CLINVAR
C1968565	Numerous pigmented freckles	phenotype	CLINVAR
C2316810	Chronic kidney disease stage 5	disease	BEFREE;HPO
C2749515	Collapsing glomerulopathy	disease	BEFREE
C2751260	Macrothrombocytopenia	disease	BEFREE;HPO
C2931716	Deafness, autosomal dominant nonsyndromic sensorineural 17	disease	CTD_human
C2931861	Hemorrhagic hereditary nephritis	disease	CTD_human
C3277059	Congenital Bilateral Cataracts	disease	HPO
C3536572	End stage renal disease due to hypertension	disease	BEFREE
C3714756	Intellectual Disability	group	GENOMICS_ENGLAND
C4021547	Neutrophil inclusion bodies	phenotype	HPO
C4021775	High-frequency sensorineural hearing impairment	disease	HPO
C4021821	Abnormality of the urinary system	disease	HPO
C4022866	Abnormal platelet shape	phenotype	CLINVAR
C4025731	Abnormal thrombosis	phenotype	HPO
C4049702	Focal Segmental Glomerulosclerosis, Not Otherwise Specified	disease	BEFREE
C4054945	Focal Segmental Glomerulosclerosis Collapsing Variant	disease	BEFREE
C4280711	Leukocyte inclusion bodies	phenotype	HPO
C4316870	Abnormality of the eye	phenotype	HPO
C4476526	High urine occult blood	phenotype	HPO
C4531300	Frequent nosebleeds	phenotype	HPO

Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID	GO Term	Evidence
GO:0000146	microfilament motor activity	IDA
GO:0003723	RNA binding	HDA
GO:0003774	motor activity	NAS
GO:0003779	actin binding	IDA
GO:0005178	integrin binding	IDA
GO:0005515	protein binding	IPI
GO:0005516	calmodulin binding	IEA
GO:0005524	ATP binding	IDA
GO:0016887	ATPase activity	IDA
GO:0019904	protein domain specific binding	IPI
GO:0030898	actin-dependent ATPase activity	IDA
GO:0042803	protein homodimerization activity	IDA
GO:0043495	protein membrane adaptor	IMP
GO:0043531	ADP binding	IDA
GO:0045296	cadherin binding	HDA
GO:0051015	actin filament binding	IDA
GO:0051015	actin filament binding	NAS

GO:Biological Process

GO ID	GO Term	Evidence
GO:0000212	meiotic spindle organization	IEA
GO:0001525	angiogenesis	IDA
GO:0001701	in utero embryonic development	IEA
GO:0001768	establishment of T cell polarity	IEA
GO:0001778	plasma membrane repair	IDA
GO:0006509	membrane protein ectodomain proteolysis	IDA
GO:0006911	phagocytosis, engulfment	ISS
GO:0007229	integrin-mediated signaling pathway	NAS
GO:0007520	myoblast fusion	IEA
GO:0008360	regulation of cell shape	IMP
GO:0015031	protein transport	IMP
GO:0030048	actin filament-based movement	IDA
GO:0030220	platelet formation	IMP
GO:0030224	monocyte differentiation	IEP
GO:0031032	actomyosin structure organization	IDA
GO:0031532	actin cytoskeleton reorganization	IMP
GO:0032418	lysosome localization	IMP
GO:0032506	cytokinetic process	IMP
GO:0032796	uropod organization	IEA
GO:0043534	blood vessel endothelial cell migration	IMP
GO:0045055	regulated exocytosis	IMP
GO:0050900	leukocyte migration	NAS
GO:0051295	establishment of meiotic spindle localization	IEA
GO:0070527	platelet aggregation	HMP
GO:1903919	negative regulation of actin filament severing	ISS
GO:1903919	negative regulation of actin filament severing	IMP
GO:1903923	positive regulation of protein processing in phagocytic vesicle	ISS
GO:1905684	regulation of plasma membrane repair	IMP

GO:Cellular Component

GO ID	GO Term	Evidence
GO:0001725	stress fiber	IDA
GO:0001726	ruffle	IDA
GO:0001931	uropod	IDA
GO:0005623	cell	IEA
GO:0005634	nucleus	IDA
GO:0005737	cytoplasm	IDA
GO:0005819	spindle	IEA
GO:0005826	actomyosin contractile ring	IDA
GO:0005829	cytosol	IDA
GO:0005829	cytosol	TAS
GO:0005886	plasma membrane	IDA
GO:0005903	brush border	IEA
GO:0005912	adherens junction	IEA
GO:0015629	actin cytoskeleton	IDA
GO:0016020	membrane	HDA
GO:0016460	myosin II complex	IDA
GO:0031252	cell leading edge	IDA
GO:0031594	neuromuscular junction	IEA
GO:0032154	cleavage furrow	IDA
GO:0032991	protein-containing complex	IDA
GO:0042641	actomyosin	IDA
GO:0070062	extracellular exosome	HDA
GO:0097513	myosin II filament	IDA
GO:0001772	immunological synapse	IDA
GO:0005925	focal adhesion	ISS
GO:0008180	COP9 signalosome	IDA

Reactome Pathway

Reactome ID	Reactome Term	Evidence
R-HSA-1266738	Developmental Biology	IEA
R-HSA-1445148	Translocation of SLC2A4 (GLUT4) to the plasma membrane	IEA
R-HSA-162582	Signal Transduction	IEA
R-HSA-162582	Signal Transduction	TAS
R-HSA-168249	Innate Immune System	TAS
R-HSA-168256	Immune System	TAS
R-HSA-194315	Signaling by Rho GTPases	IEA
R-HSA-194315	Signaling by Rho GTPases	TAS
R-HSA-195258	RHO GTPase Effectors	IEA
R-HSA-195258	RHO GTPase Effectors	TAS
R-HSA-199991	Membrane Trafficking	IEA
R-HSA-2029480	Fcgamma receptor (FCGR) dependent phagocytosis	TAS
R-HSA-2029482	Regulation of actin dynamics for phagocytic cup formation	TAS
R-HSA-2682334	EPH-Ephrin signaling	IEA
R-HSA-373755	Semaphorin interactions	IEA
R-HSA-3928663	EPHA-mediated growth cone collapse	IEA
R-HSA-400685	Sema4D in semaphorin signaling	IEA
R-HSA-416572	Sema4D induced cell migration and growth-cone collapse	IEA
R-HSA-422475	Axon guidance	IEA
R-HSA-5625740	RHO GTPases activate PKNs	IEA
R-HSA-5625900	RHO GTPases activate CIT	IEA
R-HSA-5627117	RHO GTPases Activate ROCKs	IEA
R-HSA-5627123	RHO GTPases activate PAKs	IEA
R-HSA-5627123	RHO GTPases activate PAKs	TAS
R-HSA-5653656	Vesicle-mediated transport	IEA

Drugs and compounds information

ID	Drug Name	Action	PubMed
D020001	1-Butanol	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MYH9 mRNA	29432896
D015058	1-Naphthylisothiocyanate	1-Naphthylisothiocyanate results in increased expression of MYH9 mRNA	30723492
C078765	2,3,5-(triglutathion-S-yl)hydroquinone	2,3,5-(triglutathion-S-yl)hydroquinone results in increased ADP-ribosylation of MYH9 protein	31165168
C023514	2,6-dinitrotoluene	2,6-dinitrotoluene affects the expression of MYH9 mRNA	21346803
C533410	2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one	2-hydroxymethyl-2-methoxymethylazabicyclo(2.2.2)octan-3-one affects the expression of MYH9 mRNA	19946333
C009505	4,4'-diaminodiphenylmethane	4,4'-diaminodiphenylmethane results in increased expression of MYH9 mRNA	18648102
C011421	5-chloro-2-methyl-4-isothiazolin-3-one	5-chloro-2-methyl-4-isothiazolin-3-one results in increased metabolism of MYH9 protein	29267982
D015123	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of MYH9 mRNA	19150397
D015127	9,10-Dimethyl-1,2-benzanthracene	[9,10-Dimethyl-1,2-benzanthracene co-treated with Isoflavones] results in increased expression of MYH9 protein	22248470
D015127	9,10-Dimethyl-1,2-benzanthracene	9,10-Dimethyl-1,2-benzanthracene results in increased expression of MYH9 protein	22248470
C496492	abrine	abrine results in increased expression of MYH9 mRNA	31054353
D000082	Acetaminophen	Acetaminophen results in increased expression of MYH9 mRNA	29067470
D000082	Acetaminophen	Acetaminophen affects the expression of MYH9 mRNA	17562736
D000082	Acetaminophen	Acetaminophen results in increased expression of MYH9 mRNA	29246445
D000082	Acetaminophen	PANX1 gene mutant form promotes the reaction [Acetaminophen results in increased expression of MYH9 mRNA]	29246445
D016604	Aflatoxin B1	Aflatoxin B1 results in increased methylation of MYH9 gene	27153756
D016604	Aflatoxin B1	Aflatoxin B1 results in increased expression of MYH9 mRNA	19770486
C029753	aflatoxin B2	aflatoxin B2 results in decreased methylation of MYH9 intron	30157460
D000952	Antigens, Polyomavirus Transforming	Antigens, Polyomavirus Transforming results in decreased expression of MYH9 mRNA	26680231
D000077237	Arsenic Trioxide	Arsenic Trioxide results in decreased expression of MYH9 protein	25258189
D001280	Atrazine	Atrazine results in decreased expression of MYH9 mRNA	25929836
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MYH9 mRNA	26001963
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MYH9 mRNA	20064835
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in decreased expression of MYH9 mRNA	19770486; 25908611;
D001564	Benzo(a)pyrene	Benzo(a)pyrene results in increased expression of MYH9 mRNA	22228805; 22610609;
C006703	benzo(b)fluoranthene	benzo(b)fluoranthene results in increased expression of MYH9 mRNA	26377693
C044887	beta-methylcholine	beta-methylcholine affects the expression of MYH9 mRNA	21179406
C543008	bis(4-hydroxyphenyl)sulfone	bis(4-hydroxyphenyl)sulfone results in increased expression of MYH9 mRNA	30951980
C551172	bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV) results in decreased expression of MYH9 mRNA	20162321
C006780	bisphenol A	bisphenol A results in increased expression of MYH9 mRNA	30951980
C006780	bisphenol A	bisphenol A affects the expression of MYH9 mRNA	30816183
C006780	bisphenol A	bisphenol A results in decreased expression of MYH9 mRNA	25181051
C006780	bisphenol A	[Fructose co-treated with bisphenol A] results in increased expression of MYH9 protein	26930160
C000611646	bisphenol F	[bisphenol F co-treated with Tretinoin] results in decreased expression of MYH9 mRNA	30951980
C000611646	bisphenol F	bisphenol F results in increased expression of MYH9 mRNA	30951980
C005961	bis(tri-n-butyltin)oxide	bis(tri-n-butyltin)oxide results in decreased expression of MYH9 protein	19552622
C472645	blebbistatin	blebbistatin results in decreased activity of MYH9 protein	21216307
C472645	blebbistatin	[blebbistatin results in decreased activity of MYH9 protein] promotes the reaction [Tetrachlorodibenzodioxin results in increased expression of CYP1A1 mRNA]	21216307
C013418	bromfenacoum	bromfenacoum results in increased expression of MYH9 protein	28903499
D003994	Bucladesine	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of MYH9 mRNA	20823114
D002065	Buspirone	Buspirone results in decreased expression of MYH9 mRNA	24136188
C018475	butyraldehyde	butyraldehyde results in increased expression of MYH9 mRNA	26079696
D002104	Cadmium	Cadmium results in increased oxidation of MYH9 protein	24077948
D002251	Carbon Tetrachloride	Carbon Tetrachloride affects the expression of MYH9 mRNA	17484886
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of MYH9 mRNA	27339419
D002251	Carbon Tetrachloride	Carbon Tetrachloride results in increased expression of MYH9 mRNA	31150632
D002251	Carbon Tetrachloride	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of MYH9 mRNA]	31150632
C100187	chloropicrin	chloropicrin results in decreased expression of MYH9 mRNA	26352163
D002794	Choline	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of MYH9 gene	20938992
C074702	chromium hexavalent ion	chromium hexavalent ion results in decreased expression of MYH9 protein	28596144
D002922	Ciguatoxins	Ciguatoxins affects the expression of MYH9 mRNA	18353800
C012843	cinnamic aldehyde	cinnamic aldehyde results in increased expression of MYH9 mRNA	20008804
D002945	Cisplatin	[Cisplatin co-treated with jinfukang] results in decreased expression of MYH9 mRNA	27392435
D002945	Cisplatin	Cisplatin results in decreased expression of MYH9 mRNA	27392435
D002990	Clobetasol	Clobetasol results in decreased expression of MYH9 mRNA	27462272
C018021	cobaltous chloride	cobaltous chloride results in decreased expression of MYH9 mRNA	19320972
D003042	Cocaine	Cocaine affects the expression of MYH9 mRNA	20187946
C030973	cupric oxide	cupric oxide results in decreased expression of MYH9 mRNA	22077320
D016572	Cyclosporine	Cyclosporine results in increased expression of MYH9 mRNA	20106945; 25562108;
C007262	deoxynivalenol	deoxynivalenol affects the phosphorylation of MYH9 protein	23811945
C007262	deoxynivalenol	deoxynivalenol results in increased phosphorylation of MYH9 protein	23352502
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of MYH9 mRNA	17361019; 21266533;
D003993	Dibutyl Phthalate	Dibutyl Phthalate results in increased expression of MYH9 mRNA	21266533
C000944	dicrotophos	dicrotophos results in increased expression of MYH9 mRNA	28302478
D004051	Diethylhexyl Phthalate	Diethylhexyl Phthalate results in increased expression of MYH9 mRNA	31163220
D004137	Dinitrochlorobenzene	Dinitrochlorobenzene results in increased metabolism of MYH9 protein	29267982
D004317	Doxorubicin	Doxorubicin affects the expression of MYH9 protein	29385562
D004317	Doxorubicin	Doxorubicin results in increased expression of MYH9 mRNA	29803840
C118739	entinostat	entinostat results in increased expression of MYH9 mRNA	27188386
D004791	Enzyme Inhibitors	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of MYH9 protein	23301498
D004958	Estradiol	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of MYH9 mRNA	20823114
D004958	Estradiol	[Estradiol co-treated with TGFB1 protein] results in increased expression of MYH9 mRNA	30165855
D004958	Estradiol	Estradiol results in increased expression of MYH9 mRNA	20106945; 23019147;
C074283	estradiol 3-benzoate	estradiol 3-benzoate results in increased methylation of MYH9 promoter	27415467
D000431	Ethanol	Ethanol affects the expression of MYH9 mRNA	30319688
D000431	Ethanol	Ethanol results in increased expression of MYH9 mRNA	30319688
C540355	fenamidone	fenamidone results in increased expression of MYH9 mRNA	27029645
D005492	Folic Acid	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of MYH9 gene	20938992
D005632	Fructose	[Fructose co-treated with bisphenol A] results in increased expression of MYH9 protein	26930160
D005632	Fructose	Fructose results in decreased expression of MYH9 protein	26930160
C056933	fumonisin B1	fumonisin B1 results in increased expression of MYH9 mRNA	16221962
D005742	Gasoline	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MYH9 mRNA	29432896
D005742	Gasoline	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MYH9 mRNA	29432896
D005742	Gasoline	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MYH9 mRNA	29432896
D019833	Genistein	ESR1 promotes the reaction [Genistein results in increased expression of MYH9 protein]	20884965
D019833	Genistein	Genistein results in increased expression of MYH9 protein	20884965
D005897	Glafenine	Glafenine results in increased expression of MYH9 mRNA	24136188
D006997	Hypochlorous Acid	Hypochlorous Acid results in decreased expression of MYH9 mRNA	19376150
D015759	Ionomycin	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of MYH9 mRNA	25613284
C040507	isobutyl alcohol	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MYH9 mRNA	29432896
D007529	Isoflavones	[9,10-Dimethyl-1,2-benzanthracene co-treated with Isoflavones] results in increased expression of MYH9 protein	22248470
C544151	jinfukang	[Cisplatin co-treated with jinfukang] results in decreased expression of MYH9 mRNA	27392435
C561695	(+)-JQ1 compound	(+)-JQ1 compound results in increased expression of MYH9 mRNA	23430699
D019344	Lactic Acid	Lactic Acid results in increased expression of MYH9 mRNA	30851411
D017258	Medroxyprogesterone Acetate	[Estradiol co-treated with Bucladesine co-treated with Medroxyprogesterone Acetate] results in decreased expression of MYH9 mRNA	20823114
D008715	Methionine	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in decreased methylation of MYH9 gene	20938992
C004925	methylmercuric chloride	methylmercuric chloride results in increased expression of MYH9 mRNA	28001369
D008825	Miconazole	Miconazole results in increased expression of MYH9 mRNA	27462272
C000622638	MLN7243	MLN7243 results in decreased sumoylation of MYH9 protein	31285264
C028577	monobutyl phthalate	monobutyl phthalate affects the expression of MYH9 mRNA	20864626
D037742	Nanotubes, Carbon	Nanotubes, Carbon analog results in increased expression of MYH9 mRNA	25620056
D037742	Nanotubes, Carbon	Nanotubes, Carbon results in increased expression of MYH9 mRNA	25620056
C051752	nefazodone	nefazodone results in decreased expression of MYH9 mRNA	24136188
C012655	nimesulide	nimesulide results in decreased expression of MYH9 mRNA	24136188
C025256	nonylphenol	nonylphenol results in decreased expression of MYH9 mRNA	22982499
C018620	oleoresins	oleoresins results in decreased expression of MYH9 mRNA	20008804
D052638	Particulate Matter	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MYH9 mRNA	29432896
D052638	Particulate Matter	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MYH9 mRNA	29432896
D052638	Particulate Matter	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MYH9 mRNA	29432896
C006253	pirinixic acid	pirinixic acid results in decreased expression of MYH9 mRNA	16221962; 17426115;
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with 1-Butanol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MYH9 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[[Gasoline co-treated with isobutyl alcohol] results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MYH9 mRNA	29432896
D011084	Polycyclic Aromatic Hydrocarbons	[Gasoline results in increased chemical synthesis of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of MYH9 mRNA	29432896
C060540	polyhexamethyleneguanidine	polyhexamethyleneguanidine affects the expression of MYH9 mRNA	29337256
C045950	propiconazole	propiconazole results in increased expression of MYH9 mRNA	21278054
C005556	propionaldehyde	propionaldehyde results in increased expression of MYH9 mRNA	26079696
C513428	pyrachlostrobin	pyrachlostrobin results in increased expression of MYH9 mRNA	27029645
D011794	Quercetin	Quercetin results in increased expression of MYH9 protein	14750173
D000077154	Rosiglitazone	Rosiglitazone affects the expression of MYH9 protein	19556978
D012402	Rotenone	Rotenone results in decreased expression of MYH9 mRNA	28374803
C015499	schizandrin B	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of MYH9 mRNA]	31150632
D012643	Selenium	Selenium results in increased expression of MYH9 mRNA	19244175
D012822	Silicon Dioxide	Silicon Dioxide analog affects the secretion of MYH9 protein	25895662
D012999	Soman	Soman results in increased expression of MYH9 mRNA	19281266
D000077210	Sunitinib	Sunitinib results in increased expression of MYH9 mRNA	31533062
D013501	Surface-Active Agents	Surface-Active Agents results in increased expression of MYH9 mRNA	22467014
D013749	Tetrachlorodibenzodioxin	[blebbistatin results in decreased activity of MYH9 protein] promotes the reaction [Tetrachlorodibenzodioxin results in increased expression of CYP1A1 mRNA]	21216307
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin affects the expression of MYH9 mRNA	21570461
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in increased expression of MYH9 mRNA	19770486
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MYH9 mRNA	16054898
D013749	Tetrachlorodibenzodioxin	Tetrachlorodibenzodioxin results in decreased expression of MYH9 protein	16548065
D013755	Tetradecanoylphorbol Acetate	[Tetradecanoylphorbol Acetate co-treated with Ionomycin] results in decreased expression of MYH9 mRNA	25613284
D013876	Thiophenes	Thiophenes analog promotes the reaction [Tretinoin results in increased expression of MYH9 mRNA]	16140955
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution affects the expression of MYH9 protein	30291989
D014028	Tobacco Smoke Pollution	Tobacco Smoke Pollution results in decreased expression of MYH9 mRNA	28111298
D014212	Tretinoin	Thiophenes analog promotes the reaction [Tretinoin results in increased expression of MYH9 mRNA]	16140955
D014212	Tretinoin	Tretinoin results in increased expression of MYH9 mRNA	16140955
D014212	Tretinoin	[bisphenol F co-treated with Tretinoin] results in decreased expression of MYH9 mRNA	30951980
C012589	trichostatin A	trichostatin A results in increased expression of MYH9 mRNA	26238599
D000077288	Troglitazone	Troglitazone results in decreased expression of MYH9 mRNA	28973697
D014414	Tungsten	Tungsten results in decreased expression of MYH9 mRNA	30912803
D014520	Urethane	Urethane results in increased expression of MYH9 mRNA	28818685
D014580	Ursodeoxycholic Acid	Ursodeoxycholic Acid results in decreased expression of MYH9 mRNA	15885361
D014635	Valproic Acid	Valproic Acid affects the expression of MYH9 mRNA	25979313
D014635	Valproic Acid	Valproic Acid results in decreased methylation of MYH9 gene	29154799
D014635	Valproic Acid	Valproic Acid results in increased expression of MYH9 mRNA	23179753; 26238599;
D014640	Vancomycin	Vancomycin results in decreased expression of MYH9 mRNA	18930951
D001335	Vehicle Emissions	Vehicle Emissions results in increased methylation of MYH9 gene	25560391
C025643	vinclozolin	vinclozolin affects the expression of MYH9 mRNA	19015723
C025643	vinclozolin	vinclozolin results in decreased expression of MYH9 mRNA	18042343
C029297	vinylidene chloride	vinylidene chloride results in increased expression of MYH9 mRNA	26682919
D000077337	Vorinostat	Vorinostat results in increased expression of MYH9 mRNA	26238599
D015032	Zinc	Zinc deficiency results in increased expression of MYH9 mRNA	22171008

Functional annotations

Keywords

Keyword ID	Keyword Term
KW-0002	3D-structure
KW-0007	Acetylation
KW-0009	Actin-binding
KW-0023	Alport syndrome
KW-0025	Alternative splicing
KW-0067	ATP-binding
KW-0112	Calmodulin-binding
KW-0898	Cataract
KW-0130	Cell adhesion
KW-0133	Cell shape
KW-0175	Coiled coil
KW-0963	Cytoplasm
KW-0206	Cytoskeleton
KW-0209	Deafness
KW-0903	Direct protein sequencing
KW-0225	Disease mutation
KW-0488	Methylation
KW-0505	Motor protein
KW-0518	Myosin
KW-1010	Non-syndromic deafness
KW-0547	Nucleotide-binding
KW-0597	Phosphoprotein
KW-0621	Polymorphism
KW-1185	Reference proteome
KW-0832	Ubl conjugation

Interpro

InterPro ID	InterPro Term
IPR000048	IQ_motif_EF-hand-BS
IPR036961	Kinesin_motor_dom_sf
IPR001609	Myosin_head_motor_dom
IPR027401	Myosin_IQ_contain_sf
IPR004009	Myosin_N
IPR008989	Myosin_S1_N
IPR002928	Myosin_tail
IPR027417	P-loop_NTPase
IPR036305	RGS_sf

PROSITE

PROSITE ID	PROSITE Term
PS50096	IQ
PS51456	MYOSIN_MOTOR
PS51844	SH3_LIKE

Pfam

Pfam ID	Pfam Term
PF00063	Myosin_head
PF02736	Myosin_N
PF01576	Myosin_tail_1

Gene: MYH9

Basic information

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