ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
X-65242107-A-G	ENST00000374737	p.Ter400GlnextTer14	Stop Lost	0	0	0	rs201478138
X-65242113-C-T	ENST00000374737	p.Val398Ile	Missense Variant	0	0	0	rs1187433960
X-65242115-C-A	ENST00000374737	p.Ser397Ile	Missense Variant	25	21982	0.001137	rs35553694
X-65242115-C-T	ENST00000374737	p.Ser397Asn	Missense Variant	1	21982	0.000045	rs35553694
X-65242117-T-G	ENST00000374737	p.Lys396Asn	Missense Variant	0	0	0	rs774455229
X-65242121-C-A	ENST00000374737	p.Gly395Val	Missense Variant	0	0	0	rs762194783
X-65242122-C-T	ENST00000374737	p.Gly395Ser	Missense Variant	0	0	0	rs781029968
X-65242128-T-C	ENST00000374737	p.Thr393Ala	Missense Variant	0	0	0	rs779159156
X-65242131-C-T	ENST00000374737	p.Ala392Thr	Missense Variant	0	0	0	rs1158850452
X-65242133-AG-A	ENST00000374737	p.Leu391TrpfsTer21	Frameshift Variant	0	0	0	rs765188799	lc_lof
X-65242134-G-C	ENST00000374737	p.Leu391Val	Missense Variant	0	22046	0	rs767739350		AC0
X-65242138-C-T	ENST00000374737	p.Glu389Glu	Synonymous Variant	0	0	0	rs913289224
X-65242140-C-A	ENST00000374737	p.Glu389Ter	Stop Gained	0	0	0	rs750846214	lc_lof
X-65242140-C-G	ENST00000374737	p.Glu389Gln	Missense Variant	0	0	0	rs750846214
X-65242157-G-A	ENST00000374737	p.Thr383Ile	Missense Variant	126	22095	0.005703	rs41307375
X-65242158-T-C	ENST00000374737	p.Thr383Ala	Missense Variant	0	0	0
X-65242163-A-C	ENST00000374737	p.Leu381Arg	Missense Variant	0	0	0	rs752188222
X-65242168-G-A	ENST00000374737	p.Arg379Arg	Synonymous Variant	0	0	0	rs1376341001
X-65242169-C-T	ENST00000374737	p.Arg379His	Missense Variant	1	22002	0.000045	rs201625014
X-65242170-G-A	ENST00000374737	p.Arg379Cys	Missense Variant	1	22014	0.000045	rs202152888

Showing 1 to 20 of 346 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
VSIG4	Q9Y279	Phosphorylation	219	S219-p	TAKGQVGsEQHSDIV	43.99	36277223
VSIG4	Q9Y279	Acetylation	235	K235-ac	FVVKDSSkLLKTKTE	43.99	12234885
VSIG4	Q9Y279	Phosphorylation	245	T245-p	KTKTEAPtTMTYPLk	43.99	23072728
VSIG4	Q9Y279	Acetylation	252	K252-ac	tTMTYPLkATSTVKQ	43.99	12234888
VSIG4	Q9Y279	Phosphorylation	317	Y317-p	TSQQEHVyEAARAHA	43.99	9256449
VSIG4	Q9Y279	Phosphorylation	333	T333-p	EANDSGEtMRVAIFA	43.99	23072730
VSIG4	Q9Y279	Phosphorylation	388	Y388-p	LDTVPLDyEFLATEG	43.99	976018
VSIG4	Q9Y279	Phosphorylation	82	Y82-p	DHIQQAKyQGRLHVs	43.99	23072732
VSIG4	Q9Y279	Phosphorylation	89	S89-p	yQGRLHVsHKVPGDV	43.99	23072726

Showing 1 to 9 of 9 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
VSIG4	ENST00000374737	PD13760a	breast	carcinoma	39842826	c.836-731T>C	p.?	Unknown	NEUTRAL	.02425	Confirmed somatic variant	PMID: N/A	NS	0
VSIG4	ENST00000374737	TCGA-WE-A8ZN-06	skin	malignant_melanoma	39843154	c.962+65G>A	p.?	Unknown	NEUTRAL	.05594	Confirmed somatic variant	PMID: N/A	NS	0
VSIG4	ENST00000374737	S00837	lung	carcinoma	39843047	c.804T>G	p.D268E	Substitution - Missense	NEUTRAL	.18067	Reported in another cancer sample as somatic	PMID: 22941188	NS	268
VSIG4	ENST00000374737	W34T	thyroid	carcinoma	39841894	c.1016T>C	p.F339S	Substitution - Missense	NEUTRAL	.12165	Confirmed somatic variant	PMID: N/A	primary	339
VSIG4	ENST00000374737	TCGA-DB-A4XF-01	central_nervous_system	glioma	39842258	c.376G>A	p.V126M	Substitution - Missense	NEUTRAL	.00522	Confirmed somatic variant	PMID: N/A	NS	126
VSIG4	ENST00000374737	S02120_1	lung	carcinoma	39842309	c.18C>A	p.G6=	Substitution - coding silent	NEUTRAL	.02894	Confirmed somatic variant	PMID: 26168399	primary	6
VSIG4	ENST00000374737	T368	large_intestine	carcinoma	39844595	c.1094A>G	p.Q365R	Substitution - Missense	PATHOGENIC	.83976	Confirmed somatic variant	PMID: 25344691	NS	365
VSIG4	ENST00000374737	2834130	skin	malignant_melanoma	39841991	c.881G>T	p.C294F	Substitution - Missense	NEUTRAL	.33796	Variant of unknown origin	PMID: 28296713	primary	294
VSIG4	ENST00000374737	PD6415a	breast	carcinoma	39843946	c.836-59G>A	p.?	Unknown	NEUTRAL	.0161	Confirmed somatic variant	PMID: N/A	primary	0
VSIG4	ENST00000374737	CC-UT-170T	kidney	carcinoma	39843448	c.*108C>T	p.?	Unknown	NEUTRAL	.01319	Confirmed somatic variant	PMID: 32271170	primary	0
VSIG4	ENST00000374737	TCGA-AA-A01T-01	large_intestine	carcinoma	39844032	c.984C>T	p.N328=	Substitution - coding silent	NEUTRAL	.0846	Confirmed somatic variant	PMID: N/A	NS	328
VSIG4	ENST00000374737	S01535	lung	carcinoma	39844146	c.670G>T	p.D224Y	Substitution - Missense	NEUTRAL	.02302	Confirmed somatic variant	PMID: 29535388	NS	224
VSIG4	ENST00000374737	PCSI_0085_Pa_P	pancreas	carcinoma	39842081	c.836-560G>A	p.?	Unknown	NEUTRAL	.02695	Confirmed somatic variant	PMID: N/A	primary	0
VSIG4	ENST00000374737	PD18768a	breast	carcinoma	39844805	c.694+1707G>A	p.?	Unknown	NEUTRAL	.02273	Confirmed somatic variant	PMID: N/A	NS	0
VSIG4	ENST00000374737	TCGA-AA-3492-01	large_intestine	carcinoma	39843792	c.327C>A	p.S109R	Substitution - Missense	NEUTRAL	.02599	Confirmed somatic variant	PMID: N/A	NS	109
VSIG4	ENST00000374737	TCGA-AA-3492-01	large_intestine	carcinoma	39843786	c.962+165G>C	p.?	Unknown	NEUTRAL	.08472	Confirmed somatic variant	PMID: N/A	NS	0
VSIG4	ENST00000374737	TCGA-2F-A9KQ-01	urinary_tract	carcinoma	39842148	c.126C>T	p.T42=	Substitution - coding silent		.57604	Confirmed somatic variant	PMID: N/A	primary	42
VSIG4	ENST00000374737	SCLC8_P_LU	lung	carcinoma	39843248	c.512C>A	p.P171H	Substitution - Missense	PATHOGENIC	.91734	Confirmed somatic variant	PMID: 30224629	primary	171
VSIG4	ENST00000374737	92	adrenal_gland	pheochromocytoma	39842151	c.1135C>A	p.R379S	Substitution - Missense	NEUTRAL	.15033	Confirmed somatic variant	PMID: 26032282	NS	379
VSIG4	ENST00000374737	TCGA-AM-5820-01	large_intestine	carcinoma	39842816	c.836G>A	p.G279E	Substitution - Missense	NEUTRAL	.1012	Confirmed somatic variant	PMID: N/A	NS	279

Showing 1 to 20 of 213 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF07686	V-set	Immunoglobulin V-set domain	24-136	CL0011	Ig	Homo sapiens
PF13927	Ig_3	Immunoglobulin domain	142-214	CL0011	Ig	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
IGA Glomerulonephritis	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Immune System Diseases ;	0.727	0.345
Leukemia, Myelocytic, Acute	Neoplasms ;	0.727	0.345
Acute Myeloid Leukemia, M1	Neoplasms ;	0.727	0.345
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.727	0.345
NO RESULT FOUND

Description:	V-set and immunoglobulin domain containing 4 [Source:VGNC Symbol;Acc:VGNC:1182]
Synonyms:
Other ID(s):	ENSPTRG00000021973
Protein Accession Numbers:	XP_009437468, XP_009437470, XP_009437467, XP_009437469, NP_001266802
Statistics:	ClinVar(4) gnomAD(346) COSMIC(213) PTM(9)

Classification of Clinicial Significance of ClinVar Data