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

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
15-58430780-G-A	ENST00000536493	p.Ala6Thr	Missense Variant	0	0	0	rs542588358
15-58430780-G-A	ENST00000219919	p.Ala6Thr	Missense Variant	0	0	0	rs542588358
15-58430788-G-C	ENST00000536493	p.Lys8Asn	Missense Variant	0	0	0	rs1246475046
15-58430788-G-C	ENST00000219919	p.Lys8Asn	Missense Variant	0	0	0	rs1246475046
15-58430789-G-A	ENST00000536493	p.Gly9Arg	Missense Variant	0	0	0	rs150714814
15-58430789-G-A	ENST00000219919	p.Gly9Arg	Missense Variant	0	0	0	rs150714814
15-58430796-G-T	ENST00000536493	p.Ser11Ile	Missense Variant	0	0	0	rs752868547
15-58430796-G-T	ENST00000219919	p.Ser11Ile	Missense Variant	0	0	0	rs752868547
15-58430808-G-A	ENST00000536493	p.Arg15Lys	Missense Variant	1	31394	0.000032	rs375764372
15-58430808-G-A	ENST00000219919	p.Arg15Lys	Missense Variant	1	31394	0.000032	rs375764372
15-58430809-A-G	ENST00000536493	p.Arg15Arg	Synonymous Variant	0	0	0	rs1211260302
15-58430809-A-G	ENST00000219919	p.Arg15Arg	Synonymous Variant	0	0	0	rs1211260302
15-58430811-T-C	ENST00000536493	p.Leu16Pro	Missense Variant	0	0	0	rs1259505160
15-58430811-T-C	ENST00000219919	p.Leu16Pro	Missense Variant	0	0	0	rs1259505160
15-58430814-T-A	ENST00000536493	p.Val17Asp	Missense Variant	2	31364	0.000064	rs756348851
15-58430814-T-A	ENST00000219919	p.Val17Asp	Missense Variant	2	31364	0.000064	rs756348851
15-58430832-C-G	ENST00000536493	p.Ala23Gly	Missense Variant	0	0	0	rs192641731
15-58430832-C-G	ENST00000219919	p.Ala23Gly	Missense Variant	0	0	0	rs192641731
15-58430832-C-T	ENST00000536493	p.Ala23Val	Missense Variant	2	31388	0.000064	rs192641731
15-58430832-C-T	ENST00000219919	p.Ala23Val	Missense Variant	2	31388	0.000064	rs192641731

Showing 1 to 20 of 640 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
AQP9	O43315	Phosphorylation	11	S11-p	EGAEKGKsFKQRLVL	31.43	477183
AQP9	O43315	Phosphorylation	222	S222-p	MNPARDLsPRLFTAL	31.43	477184

Showing 1 to 2 of 2 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

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
AQP9	ENST00000219919	TCGA-DJ-A3V3-01	thyroid	carcinoma	20657713	c.746T>A	p.V249E	Substitution - Missense	PATHOGENIC	.95954	Confirmed somatic variant	PMID: N/A	NS	249
AQP9	ENST00000219919	YUZINO	skin	malignant_melanoma	20658222	c.320G>A	p.G107E	Substitution - Missense	NEUTRAL	.38539	Confirmed somatic variant	PMID: 22842228	metastasis	107
AQP9	ENST00000219919	T657	large_intestine	carcinoma	20657890	c.480C>T	p.N160=	Substitution - coding silent	NEUTRAL	.1223	Confirmed somatic variant	PMID: 27149842	NS	160
AQP9	ENST00000219919	5-VS054-T1	skin	carcinoma	20658326	c.649C>T	p.P217S	Substitution - Missense	PATHOGENIC	.94613	Confirmed somatic variant	PMID: 26950094	NS	217
AQP9	ENST00000219919	RK054_C01	liver	carcinoma	20657552	c.714-128_714-124del	p.?	Unknown			Variant of unknown origin	PMID: N/A	primary	0
AQP9	ENST00000219919	EOPC-171_tumor_01	prostate	carcinoma	20658268	c.112-10403T>A	p.?	Unknown	NEUTRAL	.00545	Confirmed somatic variant	PMID: N/A	primary	0
AQP9	ENST00000219919	GCYC_133_T	stomach	carcinoma	20658033	c.68C>T	p.A23V	Substitution - Missense	NEUTRAL	.01713	Confirmed somatic variant	PMID: N/A	primary	23
AQP9	ENST00000219919	5-VS056-T1	skin	carcinoma	20658119	c.419G>A	p.G140E	Substitution - Missense	PATHOGENIC	.99242	Confirmed somatic variant	PMID: 26950094	NS	140
AQP9	ENST00000219919	2293776	adrenal_gland	adrenal_cortical_carcinoma	20657753	c.756G>T	p.L252F	Substitution - Missense	PATHOGENIC	.93862	Confirmed somatic variant	PMID: 24747642	NS	252
AQP9	ENST00000219919	ccRCC-64	kidney	carcinoma	20657854	c.112-11783T>G	p.?	Unknown	NEUTRAL	.14208	Confirmed somatic variant	PMID: 23797736	NS	0
AQP9	ENST00000219919	60T	liver	other	20658031	c.112-1598T>A	p.?	Unknown	NEUTRAL	.07328	Confirmed somatic variant	PMID: N/A	primary	0
AQP9	ENST00000219919	RK095_C01	liver	carcinoma	20658126	c.111+8235C>T	p.?	Unknown	NEUTRAL	.04206	Confirmed somatic variant	PMID: N/A	NS	0
AQP9	ENST00000219919	RK095_C01	liver	carcinoma	20658127	c.*1469C>T	p.?	Unknown	NEUTRAL	.07491	Confirmed somatic variant	PMID: N/A	NS	0
AQP9	ENST00000219919	AOCS-064-1-6	ovary	carcinoma	20657601	c.495+1162G>T	p.?	Unknown	NEUTRAL	.04067	Confirmed somatic variant	PMID: N/A	NS	0
AQP9	ENST00000219919	SJACT008_D	adrenal_gland	adrenal_cortical_carcinoma	20657798	c.719G>C	p.G240A	Substitution - Missense	PATHOGENIC	.96647	Confirmed somatic variant	PMID: 25743702	NS	240
AQP9	ENST00000219919	TCGA-CV-7245-01	upper_aerodigestive_tract	carcinoma	20657549	c.151C>T	p.R51*	Substitution - Nonsense		.62473	Confirmed somatic variant	PMID: N/A	NS	51
AQP9	ENST00000219919	8034061	pancreas	carcinoma	20657987	c.111+10728G>A	p.?	Unknown	NEUTRAL	.00323	Confirmed somatic variant	PMID: N/A	NS	0
AQP9	ENST00000219919	RK050_C01	liver	carcinoma	20657599	c.*1534A>G	p.?	Unknown	NEUTRAL	.05561	Reported in another cancer sample as somatic	PMID: N/A	primary	0
AQP9	ENST00000219919	8052570	pancreas	carcinoma	20657810	c.*1338T>C	p.?	Unknown	NEUTRAL	.07158	Confirmed somatic variant	PMID: N/A	NS	0
AQP9	ENST00000219919	PD4982a	breast	carcinoma	20658302	c.111+12875G>A	p.?	Unknown	NEUTRAL	.01504	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 473 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
PF00230	MIP	Major intrinsic protein	17-262			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
leukemia	Neoplasms ;	0.63	0.586
Leukemia, Myelocytic, Acute	Neoplasms ;	0.63	0.586
Acute Promyelocytic Leukemia	Neoplasms ;	0.63	0.586
Acute Myeloid Leukemia, M1	Neoplasms ;	0.63	0.586
Juvenile-Onset Still Disease	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.63	0.586
Arsenic Poisoning, Inorganic	Nervous System Diseases ; Chemically-Induced Disorders ;	0.63	0.586
Nervous System, Organic Arsenic Poisoning	Nervous System Diseases ; Chemically-Induced Disorders ;	0.63	0.586
Arsenic Poisoning	Nervous System Diseases ; Chemically-Induced Disorders ;	0.63	0.586
Arsenic Encephalopathy	Nervous System Diseases ; Chemically-Induced Disorders ;	0.63	0.586
Arsenic Induced Polyneuropathy	Nervous System Diseases ; Chemically-Induced Disorders ;	0.63	0.586
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.63	0.586
Juvenile arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.63	0.586
Juvenile psoriatic arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.63	0.586
NO RESULT FOUND

Description:	aquaporin 9 [Source:HGNC Symbol;Acc:HGNC:643]
Synonyms:	T17287, AQP-9, SSC1, HsT17287
Other ID(s):	HGNC:643, ENSG00000103569
Protein Accession Numbers:	ENST00000219919, NP_066190, ENST00000558772, NP_001307565, ENST00000536493, NP_001307564
Statistics:	gnomAD(640) COSMIC(473) PTM(2)

Classification of Clinicial Significance of ClinVar Data