ConVarT

ClinVar Data

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

gnomAD

Frameshift Variant

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
3-172227086-T-C	ENST00000430881	p.Ter75TrpextTer1	Stop Lost	0	0	0	rs371310872
3-172227088-G-A	ENST00000430881	p.Pro74Pro	Synonymous Variant	0	0	0	rs780819052
3-172227095-A-C	ENST00000430881	p.Phe72Cys	Missense Variant	0	0	0	rs1300501353
3-172227096-A-G	ENST00000430881	p.Phe72Leu	Missense Variant	0	0	0	rs752441209
3-172227097-T-G	ENST00000430881	p.Ile71Ile	Synonymous Variant	0	0	0	rs974753888
3-172227106-G-A	ENST00000430881	p.Ser68Ser	Synonymous Variant	1	31372	0.000032	rs1317076462
3-172227107-C-T	ENST00000430881	p.Ser68Asn	Missense Variant	0	0	0	rs549869368
3-172227107-CT-C	ENST00000430881	p.Ser68AlafsTer48	Frameshift Variant	0	0	0	rs549869368	nc_transcript
3-172232651-C-A	ENST00000430881	p.Lys66Asn	Missense Variant	1	31396	0.000032	rs760670084
3-172232651-C-T	ENST00000430881	p.Lys66Lys	Splice Region Variant	1	31396	0.000032	rs760670084
3-172232659-C-T	ENST00000430881	p.Val64Ile	Missense Variant	3	31394	0.000096	rs140214406
3-172232660-G-A	ENST00000430881	p.Leu63Leu	Synonymous Variant	1	31396	0.000032	rs1291288240		RF
3-172232662-G-C	ENST00000430881	p.Leu63Val	Missense Variant	0	0	0	rs1038334232
3-172232664-T-C	ENST00000430881	p.Gln62Arg	Missense Variant	0	0	0	rs753678205
3-172232667-C-T	ENST00000430881	p.Arg61His	Missense Variant	0	0	0	rs757021342
3-172232668-G-A	ENST00000430881	p.Arg61Cys	Missense Variant	5	31388	0.000159	rs764907364
3-172232669-G-T	ENST00000430881	p.Leu60Leu	Synonymous Variant	0	0	0	rs1181817019
3-172232671-G-A	ENST00000430881	p.Leu60Phe	Missense Variant	0	0	0	rs750051656
3-172232672-T-C	ENST00000430881	p.Gln59Gln	Synonymous Variant	2	31360	0.000064	rs757869963
3-172232675-C-G	ENST00000430881	p.Trp58Cys	Missense Variant	0	0	0	rs1471740683

Showing 1 to 20 of 71 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

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

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
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Spontaneous abortion	Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
Abortion, Tubal	Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.44	0.828
Malignant tumor of colon	Neoplasms ; Digestive System Diseases ;	0.44	0.828
Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
Colonic Neoplasms	Neoplasms ; Digestive System Diseases ;	0.44	0.828
Colorectal Carcinoma	Neoplasms ; Digestive System Diseases ;	0.44	0.828
Colorectal Neoplasms	Neoplasms ; Digestive System Diseases ;	0.44	0.828
Endometrial Neoplasms	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
Glioblastoma	Neoplasms ;	0.44	0.828
Glioma	Neoplasms ;	0.44	0.828
Influenza	Virus Diseases ; Respiratory Tract Diseases ;	0.44	0.828
Kidney Neoplasm	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
leukemia	Neoplasms ;	0.44	0.828
Leukemia, Myelocytic, Acute	Neoplasms ;	0.44	0.828
Liver neoplasms	Neoplasms ; Digestive System Diseases ;	0.44	0.828
Mammary Neoplasms, Experimental	Neoplasms ;	0.44	0.828
Acute Myeloid Leukemia, M1	Neoplasms ;	0.44	0.828
Neoplasm Metastasis	Neoplasms ; Pathological Conditions, Signs and Symptoms ;	0.44	0.828
Neoplasms, Experimental	Neoplasms ;	0.44	0.828
Pathologic Neovascularization	Pathological Conditions, Signs and Symptoms ;	0.44	0.828
Neuroblastoma	Neoplasms ;	0.44	0.828
Pancreatic Neoplasm	Neoplasms ; Digestive System Diseases ; Endocrine System Diseases ;	0.44	0.828
Prostatic Neoplasms	Neoplasms ; Male Urogenital Diseases ;	0.44	0.828
Injuries, Acute Brain	Nervous System Diseases ; Wounds and Injuries ;	0.44	0.828
Adenocarcinoma of lung (disorder)	Neoplasms ; Respiratory Tract Diseases ;	0.44	0.828
mixed gliomas	Neoplasms ;	0.44	0.828
Brain Injuries	Nervous System Diseases ; Wounds and Injuries ;	0.44	0.828
Brain Lacerations	Nervous System Diseases ; Wounds and Injuries ;	0.44	0.828
Conventional (Clear Cell) Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
Giant Cell Glioblastoma	Neoplasms ;	0.44	0.828
Malignant neoplasm of liver	Neoplasms ; Digestive System Diseases ;	0.44	0.828
Malignant neoplasm of pancreas	Neoplasms ; Digestive System Diseases ; Endocrine System Diseases ;	0.44	0.828
Malignant neoplasm of prostate	Neoplasms ; Male Urogenital Diseases ;	0.44	0.828
Brain Injuries, Focal	Nervous System Diseases ; Wounds and Injuries ;	0.44	0.828
Endometrial Carcinoma	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
Malignant Glioma	Neoplasms ;	0.44	0.828
Breast Carcinoma	Neoplasms ; Skin and Connective Tissue Diseases ;	0.44	0.828
Malignant neoplasm of kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
ovarian neoplasm	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.44	0.828
Malignant neoplasm of ovary	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ; Endocrine System Diseases ;	0.44	0.828
Mammary Neoplasms, Human	Neoplasms ; Skin and Connective Tissue Diseases ;	0.44	0.828
Chromophobe Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
Sarcomatoid Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
Collecting Duct Carcinoma of the Kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
Papillary Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.44	0.828
Mammary Neoplasms	Neoplasms ; Skin and Connective Tissue Diseases ;	0.44	0.828
Colorectal Cancer	Neoplasms ; Digestive System Diseases ;	0.44	0.828
Glioblastoma Multiforme	Neoplasms ;	0.44	0.828
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.44	0.828
Liver carcinoma	Neoplasms ; Digestive System Diseases ;	0.44	0.828
NO RESULT FOUND

Description:	TNF superfamily member 10 [Source:HGNC Symbol;Acc:HGNC:11925]
Synonyms:	TL2, Apo-2L, TRAIL, CD253, TNLG6A, APO2L
Other ID(s):	ENSG00000121858, HGNC:11925
Protein Accession Numbers:	NP_001177871, ENST00000241261, NP_003801, ENST00000430881, NP_001177872, ENST00000420541
Statistics:	gnomAD(71)

Classification of Clinicial Significance of ClinVar Data