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	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: ITGA2 (NCBI Gene ID:3673)

Gene Summary

Gene Summary

Gene Information	Gene Name: ITGA2
	Gene ID: 3673
	Gene Symbol	ITGA2
	Gene ID	3673
	Gene Name	integrin subunit alpha 2
	Synonyms	BR\|CD49B\|GPIa\|HPA-5\|VLA-2\|VLAA2
	Cytomap	5q11.2
	Type of Gene	protein-coding
	Description	integrin alpha-2CD49 antigen-like family member Balpha 2 subunit of VLA-2 receptorcollagen receptorhuman platelet alloantigen system 5integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)platelet antigen Brplatelet glycoprotein GPIaplatelet
	Modification date	20200314
	UniProtAcc	P17301

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0006417	Regulation of translation
GO:0045727	Positive regulation of translation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

Inferred gene age of translation factor.

Gene	Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
ITGA2	(355.7 - 733]

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Translation Studies in PubMed

We searched PubMed using 'ITGA2[title] AND translation [title] AND human.'

Gene	Title	PMID
ITGA2	.	.

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Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	ORF
ENST00000296585	52344472	52344600	Frame-shift
ENST00000296585	52351813	52351979	Frame-shift
ENST00000296585	52368947	52369089	Frame-shift
ENST00000296585	52370890	52370967	Frame-shift
ENST00000296585	52374601	52374704	Frame-shift
ENST00000296585	52376340	52376451	In-frame
ENST00000296585	52382781	52382871	In-frame

Exon skipping position in the amino acid sequence.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	Len(transcript seq)	Exon skip start (mRNA)	Exon Skip end (mRNA)	Len(amino acid seq)	Exon skip start (AA)	Exon Skip end (AA)
ENST00000296585	52376340	52376451	7886	3072	3182	1181	976	1013
ENST00000296585	52382781	52382871	7886	3402	3491	1181	1086	1116

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc	Exon skip start (AA)	Exon Skip end (AA)	Function feature start (AA)	Function feature end (AA)	Functional feature type	Functional feature desc.
P17301	1086	1116	30	1181	Chain	ID=PRO_0000016233;Note=Integrin alpha-2
P17301	976	1013	30	1181	Chain	ID=PRO_0000016233;Note=Integrin alpha-2
P17301	1086	1116	30	1132	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255
P17301	976	1013	30	1132	Topological domain	Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255

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Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
STAD	ITGA2	2.61865046070255	0.00133262807503343
ESCA	ITGA2	3.56674988670248	0.0048828125
KICH	ITGA2	-1.89988169109721	0.0295784473419189
KIRP	ITGA2	-4.36879840820435	1.10594555735588e-06
COAD	ITGA2	3.66141477632591	2.98023223876954e-08
LUAD	ITGA2	3.32637586991121	4.09115358788669e-06
LUSC	ITGA2	1.69800761243753	4.46844396198443e-06
KIRC	ITGA2	-1.16633772677579	8.9677320296751e-09

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type	Gene	miRNA	TargetScan binding score (Context++ score percentile)	Coefficient	Pvalue
CHOL	ITGA2	hsa-miR-30c-5p	79	-0.316600790513834	0.0345655806696836
OV	ITGA2	hsa-miR-30b-5p	79	0.318108085033723	0.0219595365484326

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type	Gene	methyl group b	methyl group a	DEG pval	avg methyl in b	avg methyl in a	avg exp in b	avg exp in a
LIHC	ITGA2	1	2	0.0266048621861602	0.162331493506494	0.292884619666048	0.387992898946332	0.0865336781671905

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
LGG	ITGA2	-0.026920889	0.048952234

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with ITGA2 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
CHOL	Cell metabolism gene	ITGA2	PIGS	0.801473756	3.74E-11
CHOL	Cell metabolism gene	ITGA2	MGAT5	0.803346582	3.11E-11
CHOL	Cell metabolism gene	ITGA2	VCAN	0.848651321	1.81E-13
CHOL	CGC	ITGA2	ITGAV	0.801639339	3.68E-11
CHOL	CGC	ITGA2	KIF5B	0.805345431	2.55E-11
CHOL	IUPHAR	ITGA2	SLC36A1	0.801553412	3.71E-11
CHOL	IUPHAR	ITGA2	ITGAV	0.801639339	3.68E-11
CHOL	IUPHAR	ITGA2	CDC42BPG	0.809298477	1.71E-11
CHOL	IUPHAR	ITGA2	LOXL2	0.830204759	1.76E-12
CHOL	IUPHAR	ITGA2	SLC25A24	0.838136426	6.86E-13
CHOL	IUPHAR	ITGA2	NOX4	0.842751357	3.87E-13
CHOL	IUPHAR	ITGA2	ADAM9	0.888365481	3.94E-16
CHOL	Kinase	ITGA2	CDC42BPG	0.809298477	1.71E-11
CHOL	TF	ITGA2	FOXF2	0.826381389	2.73E-12
CHOL	TF	ITGA2	EHF	0.849229726	1.68E-13
CHOL	TSG	ITGA2	ITGAV	0.801639339	3.68E-11
CHOL	TSG	ITGA2	CDCP1	0.806561593	2.26E-11
CHOL	TSG	ITGA2	EHF	0.849229726	1.68E-13
PCPG	Cell metabolism gene	ITGA2	YAP1	0.822693035	2.98E-47
PCPG	CGC	ITGA2	NOTCH2	0.815922173	6.82E-46
PCPG	IUPHAR	ITGA2	PRKG1	0.809438225	1.21E-44
PCPG	IUPHAR	ITGA2	NOTCH2	0.815922173	6.82E-46
PCPG	IUPHAR	ITGA2	OSMR	0.816733363	4.72E-46
PCPG	Kinase	ITGA2	PRKG1	0.809438225	1.21E-44
PCPG	TSG	ITGA2	NOTCH2	0.815922173	6.82E-46
PCPG	TSG	ITGA2	YAP1	0.822693035	2.98E-47
THCA	Cell metabolism gene	ITGA2	B4GALT5	0.805437006	1.34E-131
THCA	IUPHAR	ITGA2	KCNQ3	0.808873081	1.42E-133
THCA	IUPHAR	ITGA2	XPR1	0.818048694	4.85E-139
THYM	Cell metabolism gene	ITGA2	RAPGEF4	0.806379355	3.79E-29
THYM	Cell metabolism gene	ITGA2	TNPO1	0.811615873	8.65E-30
THYM	Cell metabolism gene	ITGA2	MCFD2	0.814522283	3.73E-30
THYM	Cell metabolism gene	ITGA2	YAP1	0.832912551	1.27E-32
THYM	Cell metabolism gene	ITGA2	PIK3C2A	0.83297787	1.24E-32
THYM	Cell metabolism gene	ITGA2	PRKAR1A	0.837781309	2.51E-33
THYM	CGC	ITGA2	TET2	0.801710089	1.36E-28
THYM	CGC	ITGA2	LRIG3	0.818027028	1.33E-30
THYM	CGC	ITGA2	AFF4	0.827534608	7.18E-32
THYM	CGC	ITGA2	BMPR1A	0.837529428	2.74E-33
THYM	CGC	ITGA2	PRKAR1A	0.837781309	2.51E-33
THYM	CGC	ITGA2	ARHGEF12	0.841995421	5.92E-34
THYM	CGC	ITGA2	FAT1	0.85879455	1.18E-36
THYM	Epifactor	ITGA2	TET2	0.801710089	1.36E-28
THYM	Epifactor	ITGA2	KDM3B	0.802136445	1.21E-28
THYM	Epifactor	ITGA2	ZMYND11	0.825803335	1.24E-31
THYM	IUPHAR	ITGA2	KDM3B	0.802136445	1.21E-28
THYM	IUPHAR	ITGA2	RAPGEF4	0.806379355	3.79E-29
THYM	IUPHAR	ITGA2	SLC35F5	0.819956363	7.45E-31
THYM	IUPHAR	ITGA2	MAP4K3	0.820936834	5.54E-31
THYM	IUPHAR	ITGA2	PREPL	0.821554165	4.59E-31
THYM	IUPHAR	ITGA2	NPTN	0.824616487	1.79E-31
THYM	IUPHAR	ITGA2	BMPR2	0.82552552	1.35E-31
THYM	IUPHAR	ITGA2	ZMYND11	0.825803335	1.24E-31
THYM	IUPHAR	ITGA2	PIK3C2A	0.83297787	1.24E-32
THYM	IUPHAR	ITGA2	BMPR1A	0.837529428	2.74E-33
THYM	IUPHAR	ITGA2	PRKAR1A	0.837781309	2.51E-33
THYM	Kinase	ITGA2	MAP4K3	0.820936834	5.54E-31
THYM	Kinase	ITGA2	BMPR2	0.82552552	1.35E-31
THYM	Kinase	ITGA2	BMPR1A	0.837529428	2.74E-33
THYM	TF	ITGA2	BBX	0.801369058	1.49E-28
THYM	TF	ITGA2	TET2	0.801710089	1.36E-28
THYM	TF	ITGA2	ZBTB38	0.828585564	5.14E-32
THYM	TF	ITGA2	SMAD5	0.850896406	2.41E-35
THYM	TSG	ITGA2	TET2	0.801710089	1.36E-28
THYM	TSG	ITGA2	KDM3B	0.802136445	1.21E-28
THYM	TSG	ITGA2	SASH1	0.809438811	1.61E-29
THYM	TSG	ITGA2	LRIG3	0.818027028	1.33E-30
THYM	TSG	ITGA2	BMPR2	0.82552552	1.35E-31
THYM	TSG	ITGA2	ZMYND11	0.825803335	1.24E-31
THYM	TSG	ITGA2	DNAJB4	0.830240154	3.03E-32
THYM	TSG	ITGA2	YAP1	0.832912551	1.27E-32
THYM	TSG	ITGA2	BMPR1A	0.837529428	2.74E-33
THYM	TSG	ITGA2	PRKAR1A	0.837781309	2.51E-33
THYM	TSG	ITGA2	ARHGEF12	0.841995421	5.92E-34
THYM	TSG	ITGA2	FAT1	0.85879455	1.18E-36
UCS	Cell metabolism gene	ITGA2	RAPGEF4	0.806379355	3.79E-29
UCS	Cell metabolism gene	ITGA2	TNPO1	0.811615873	8.65E-30
UCS	Cell metabolism gene	ITGA2	MCFD2	0.814522283	3.73E-30
UCS	Cell metabolism gene	ITGA2	YAP1	0.832912551	1.27E-32
UCS	Cell metabolism gene	ITGA2	PIK3C2A	0.83297787	1.24E-32
UCS	Cell metabolism gene	ITGA2	PRKAR1A	0.837781309	2.51E-33
UCS	CGC	ITGA2	TET2	0.801710089	1.36E-28
UCS	CGC	ITGA2	LRIG3	0.818027028	1.33E-30
UCS	CGC	ITGA2	AFF4	0.827534608	7.18E-32
UCS	CGC	ITGA2	BMPR1A	0.837529428	2.74E-33
UCS	CGC	ITGA2	PRKAR1A	0.837781309	2.51E-33
UCS	CGC	ITGA2	ARHGEF12	0.841995421	5.92E-34
UCS	CGC	ITGA2	FAT1	0.85879455	1.18E-36
UCS	Epifactor	ITGA2	TET2	0.801710089	1.36E-28
UCS	Epifactor	ITGA2	KDM3B	0.802136445	1.21E-28
UCS	Epifactor	ITGA2	ZMYND11	0.825803335	1.24E-31
UCS	IUPHAR	ITGA2	KDM3B	0.802136445	1.21E-28
UCS	IUPHAR	ITGA2	RAPGEF4	0.806379355	3.79E-29
UCS	IUPHAR	ITGA2	SLC35F5	0.819956363	7.45E-31
UCS	IUPHAR	ITGA2	MAP4K3	0.820936834	5.54E-31
UCS	IUPHAR	ITGA2	PREPL	0.821554165	4.59E-31
UCS	IUPHAR	ITGA2	NPTN	0.824616487	1.79E-31
UCS	IUPHAR	ITGA2	BMPR2	0.82552552	1.35E-31
UCS	IUPHAR	ITGA2	ZMYND11	0.825803335	1.24E-31
UCS	IUPHAR	ITGA2	PIK3C2A	0.83297787	1.24E-32
UCS	IUPHAR	ITGA2	BMPR1A	0.837529428	2.74E-33
UCS	IUPHAR	ITGA2	PRKAR1A	0.837781309	2.51E-33
UCS	Kinase	ITGA2	MAP4K3	0.820936834	5.54E-31
UCS	Kinase	ITGA2	BMPR2	0.82552552	1.35E-31
UCS	Kinase	ITGA2	BMPR1A	0.837529428	2.74E-33
UCS	TF	ITGA2	BBX	0.801369058	1.49E-28
UCS	TF	ITGA2	TET2	0.801710089	1.36E-28
UCS	TF	ITGA2	ZBTB38	0.828585564	5.14E-32
UCS	TF	ITGA2	SMAD5	0.850896406	2.41E-35
UCS	TSG	ITGA2	TET2	0.801710089	1.36E-28
UCS	TSG	ITGA2	KDM3B	0.802136445	1.21E-28
UCS	TSG	ITGA2	SASH1	0.809438811	1.61E-29
UCS	TSG	ITGA2	LRIG3	0.818027028	1.33E-30
UCS	TSG	ITGA2	BMPR2	0.82552552	1.35E-31
UCS	TSG	ITGA2	ZMYND11	0.825803335	1.24E-31
UCS	TSG	ITGA2	DNAJB4	0.830240154	3.03E-32
UCS	TSG	ITGA2	YAP1	0.832912551	1.27E-32
UCS	TSG	ITGA2	BMPR1A	0.837529428	2.74E-33
UCS	TSG	ITGA2	PRKAR1A	0.837781309	2.51E-33
UCS	TSG	ITGA2	ARHGEF12	0.841995421	5.92E-34
UCS	TSG	ITGA2	FAT1	0.85879455	1.18E-36

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Protein structure

Protein 3D structure
Visit iCn3D.

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Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
BRCA	ITGA2	ITGB2	-3.26793155323191	0.000145464158811691
KIRP	ITGA2	ITGB5	-4.68509988113953	0.000306400004774332
LIHC	ITGA2	ITGB5	1.61920797002943	0.000317394623744578
COAD	ITGA2	ITGB8	-1.1403306297969	0.000363647937774659
BLCA	ITGA2	ITGB6	2.0682831789171	0.00202178955078125
STAD	ITGA2	ITGB2	-3.47062384490471	0.00275033386424184
ESCA	ITGA2	ITGB8	2.78242987689011	0.0029296875
LIHC	ITGA2	ITGB2	2.50970216859716	0.00323738381247511
LUAD	ITGA2	ITGB3	2.28163338327198	0.00378388437875256
THCA	ITGA2	ITGB2	-2.11749616593273	0.00891298845169819
LUAD	ITGA2	ITGB8	-1.38198368446544	0.0121237847688822
CHOL	ITGA2	FN1	-1.40471088454112	0.01953125
BLCA	ITGA2	LAMA1	-1.76016037222548	0.0323410034179688
KIRC	ITGA2	COL1A2	-3.75314121025249	1.02382991067149e-08
BRCA	ITGA2	COL1A2	1.34412705532548	1.11796092323025e-16
KIRC	ITGA2	ITGB1	1.71518692731061	1.37975994778687e-09
KIRC	ITGA2	ITGB6	-2.65737199020529	1.88852955909999e-11
THCA	ITGA2	COL1A1	-1.31465873846267	2.03666891140347e-05
KIRC	ITGA2	COL1A1	-2.35884561119902	2.23846498739956e-10
BRCA	ITGA2	COL1A1	2.92706941886317	2.63298359742759e-23
KICH	ITGA2	ITGB3	-1.27836900939953	3.19480895996094e-05
LUSC	ITGA2	ITGB2	-2.26445134249048	4.05704818310673e-09
THCA	ITGA2	ITGB5	-1.49550010473856	6.91106419786075e-09
BRCA	ITGA2	ITGB3	-2.31786489296506	7.43369260396519e-12
KICH	ITGA2	ITGB6	-1.88024913478278	8.34465026855468e-07
THCA	ITGA2	ITGB1	-1.13323210382327	8.91332468972732e-06
LUSC	ITGA2	COL1A2	1.97903940265039	9.06567845421014e-06

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with ITGA2

COL1A1, CD46, AUP1, MMP1, LAMA1, RABIF, PSMD4, SHARPIN, ITGB1, ERGIC1, PDIA3, ALB, ATF2, LGALS3, LGALS8, BTNL8, ZACN, RSRP1, Itgb1, Cenph, Mad2l1bp, Anapc13, TSC22D2, MGAT4C, TMED6, SCGB1D1, SERPINA12, CFTR, RNF4, VHL, HRAS, KRAS, LAMP1, KIAA1429, APP, CA9, FAM105A, RAB5A, SH3BGRL, ORF8, ORF7b, nsp4, EGFR, ARF6, CAV1, DIRAS3, GJD3, LAMP3, LAMTOR1, LYN, MARCKS, RAB11A, RAB2A, RAB35, RHOB, ALCAM, DEFB109P1B, CD160, CLEC12B, LGALS1, PICK1, C7orf34, EDDM3B, C1orf54, FBXO2, BAGE2, TAZ, CFC1, ASIC4, CBLN4, BRICD5, SFTPC, BTNL2, PRTN3, UGT1A7, DNASE1L1, NAAA, CDHR4,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
ITGA2	chr5	52285077	C	G	single_nucleotide_variant	Benign	not_provided
ITGA2	chr5	52285098	G	T	single_nucleotide_variant	Benign	not_provided
ITGA2	chr5	52285117	T	C	single_nucleotide_variant	Benign	not_provided
ITGA2	chr5	52285175	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided
ITGA2	chr5	52285200	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
ITGA2	chr5	52285210	T	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
ITGA2	chr5	52285264	C	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
ITGA2	chr5	52285286	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
ITGA2	chr5	52285309	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52285644	G	GCA	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52285644	G	GCACA	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52285663	CACAG	C	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52285667	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52322369	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52322598	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52322636	C	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52322684	T	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52322708	T	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52322721	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52322982	T	TGATA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52337756	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52337783	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52337908	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52337983	G	A	single_nucleotide_variant	Benign/Likely_benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52338024	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52338083	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52338227	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52338241	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52338276	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52340862	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52341064	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52341110	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52343901	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52344046	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52344319	A	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52344487	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52344543	A	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52344572	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52344584	G	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52344610	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52344780	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52344837	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52344842	CTT	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52347243	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52347246	G	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52347366	A	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52347369	C	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52347561	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52351182	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52351236	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52351242	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52351357	A	T	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52351377	T	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52351413	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52351437	C	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52351459	A	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52351746	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52351838	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52351876	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52351879	C	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52351989	A	AT	Duplication	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52353613	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52353866	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52353899	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52354103	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52355516	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52355566	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52355706	T	C	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52355719	G	A	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52355832	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52355854	T	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52356006	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52356692	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52356701	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52356790	C	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52356859	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52358681	G	A	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52358751	A	C	single_nucleotide_variant	Benign/Likely_benign	Platelet-type_bleeding_disorder_9\|Fetal_and_neonatal_alloimmune_thrombocytopenia	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52358757	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52358761	T	TA	Duplication	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52358762	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52360777	C	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52360928	C	T	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52361219	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52361665	T	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
ITGA2	chr5	52362765	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52362941	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52362962	C	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52363073	A	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52365954	T	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52366090	G	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52366138	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52366162	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52366284	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52366336	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52366381	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52367549	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52367666	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52367706	T	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52367715	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52367773	C	T	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52367956	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52368366	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52368472	C	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52368473	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52368522	C	CT	Duplication	Uncertain_significance	See_cases	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52368525	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52368546	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52368594	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52368922	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52368952	C	A	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52369001	C	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52369002	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52369003	C	G	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52369021	A	G	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52369086	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52369104	C	G	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52369193	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52369335	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52370174	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52370226	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52370251	T	C	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52370432	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52370732	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52370900	A	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52370904	T	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52370944	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52370956	C	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52371047	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52371089	A	G	single_nucleotide_variant	Benign/Likely_benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52371105	C	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52371370	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52374590	A	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52374690	A	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52376119	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52376415	C	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52376433	T	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52376446	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52377181	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52377489	CT	C	Deletion	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52378850	GT	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52378956	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52379019	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52379179	A	T	single_nucleotide_variant	Benign/Likely_benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52379277	C	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52382655	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52382748	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52382847	T	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
ITGA2	chr5	52382925	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52385806	A	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52386231	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
ITGA2	chr5	52386401	T	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
ITGA2	chr5	52386458	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386464	A	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386489	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386489	G	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386496	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386516	A	AT	Duplication	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386637	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386660	TG	T	Deletion	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386727	A	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386851	C	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386859	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386891	A	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386894	T	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386901	TAAC	T	Deletion	Benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386908	AG	A	Deletion	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52386912	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387038	T	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387042	C	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387090	T	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387111	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387136	G	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387150	A	C	single_nucleotide_variant	Benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387151	T	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387187	C	CATTT	Insertion	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387232	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387274	GTTCTC	G	Deletion	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387288	T	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387323	C	T	single_nucleotide_variant	Benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387471	C	CAA	Duplication	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387628	C	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387681	G	A	single_nucleotide_variant	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387729	C	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387751	T	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387775	C	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387785	C	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387794	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52387878	T	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388064	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388070	C	G	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388100	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388178	T	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388186	GA	G	Deletion	Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388246	C	CCTTGG	Insertion	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388254	T	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388326	A	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388344	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388350	G	T	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388376	T	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388386	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388409	T	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388438	C	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388454	TA	T	Deletion	Benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388454	TAAA	T	Deletion	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388480	A	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388493	C	T	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388504	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388518	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388580	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388627	T	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388694	C	CT	Duplication	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388796	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388821	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388843	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388858	C	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388879	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388933	TCAAA	T	Microsatellite	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388950	A	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388954	AAGTT	A	Deletion	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388999	C	A	single_nucleotide_variant	Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52388999	C	T	single_nucleotide_variant	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389003	C	G	single_nucleotide_variant	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389037	A	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389077	A	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389082	T	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389103	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389111	T	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389119	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389145	C	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389152	G	C	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389211	C	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389311	G	GGTATGTTTAGC	Duplication	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389350	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389368	C	T	single_nucleotide_variant	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389369	G	A	single_nucleotide_variant	Benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389428	A	G	single_nucleotide_variant	Benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389455	A	G	single_nucleotide_variant	Benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389457	G	A	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389477	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389542	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389591	TG	T	Deletion	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389593	G	A	single_nucleotide_variant	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389595	G	A	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389666	A	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389734	ACTC	A	Deletion	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389739	T	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389760	A	G	single_nucleotide_variant	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389787	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389811	T	TAAAG	Insertion	Benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389827	T	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389833	T	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389838	A	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389843	A	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52389884	A	G	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390023	AACA	TTTATAAACAACTTTGTAGGACT	Indel	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390026	A	AATTATATAAACAACTTTGTAGGACT	Insertion	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390026	A	AATTTATAAACAACTTTGTAGGACT	Insertion	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390026	A	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390153	T	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390190	TAA	T	Deletion	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390242	G	A	single_nucleotide_variant	Uncertain_significance	Molybdenum_cofactor_deficiency,_complementation_group_B\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390249	T	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390318	A	G	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390347	G	C	single_nucleotide_variant	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390415	A	C	single_nucleotide_variant	Benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390425	G	T	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390430	CATTTG	C	Deletion	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390457	A	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390469	CAGTTAGT	C	Deletion	Likely_benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390471	G	A	single_nucleotide_variant	Benign	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390472	TTAG	T	Microsatellite	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390512	G	C	single_nucleotide_variant	Uncertain_significance	Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52390527	C	G	single_nucleotide_variant	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52391850	T	G	single_nucleotide_variant	Benign	Molybdenum_cofactor_deficiency,_complementation_group_B\|Platelet-type_bleeding_disorder_9	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52392017	G	A	single_nucleotide_variant	Benign	Molybdenum_cofactor_deficiency,_complementation_group_B\|Platelet-type_bleeding_disorder_9	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52392274	G	A	single_nucleotide_variant	Benign	Molybdenum_cofactor_deficiency,_complementation_group_B\|Platelet-type_bleeding_disorder_9	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52392387	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Molybdenum_cofactor_deficiency,_complementation_group_B\|Platelet-type_bleeding_disorder_9	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52392400	C	T	single_nucleotide_variant	Benign	Molybdenum_cofactor_deficiency,_complementation_group_B\|Platelet-type_bleeding_disorder_9	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52392519	C	T	single_nucleotide_variant	Benign/Likely_benign	Molybdenum_cofactor_deficiency,_complementation_group_B\|Platelet-type_bleeding_disorder_9	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52392560	G	A	single_nucleotide_variant	Benign	Molybdenum_cofactor_deficiency,_complementation_group_B\|Platelet-type_bleeding_disorder_9	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52394018	GC	G	Deletion	Benign/Likely_benign	Combined_molybdoflavoprotein_enzyme_deficiency\|Platelet-type_bleeding_disorder_9\|not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52394111	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_molybdoflavoprotein_enzyme_deficiency\|Molybdenum_cofactor_deficiency,_complementation_group_B\|Platelet-type_bleeding_disorder_9	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52394261	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_molybdoflavoprotein_enzyme_deficiency\|Molybdenum_cofactor_deficiency,_complementation_group_B\|Platelet-type_bleeding_disorder_9	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
ITGA2	chr5	52394388	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_molybdoflavoprotein_enzyme_deficiency\|Molybdenum_cofactor_deficiency,_complementation_group_B\|Platelet-type_bleeding_disorder_9	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
ITGA2	BLCA	chr5	52371064	52371064	G	A	Missense_Mutation	p.E919K	6
ITGA2	KIRP	chr5	52366069	52366069	C	G	Silent	p.P738P	6
ITGA2	LUAD	chr5	52351515	52351515	A	G	Missense_Mutation	p.I309M	5
ITGA2	READ	chr5	52351403	52351403	G	A	Missense_Mutation	p.R272Q	5
ITGA2	COAD	chr5	52360929	52360929	G	A	Missense_Mutation	p.R597H	4
ITGA2	BRCA	chr5	52356790	52356790	C	T	Missense_Mutation	p.R458W	4
ITGA2	BRCA	chr5	52363035	52363035	C	T	Silent	p.L677	4
ITGA2	HNSC	chr5	52351412	52351412	C	T	Missense_Mutation	p.T275M	3
ITGA2	ESCA	chr5	52369001	52369001	C	T	Missense_Mutation	p.T828M	3
ITGA2	ESCA	chr5	52370296	52370296	A	G	Missense_Mutation	p.R885G	3
ITGA2	LUAD	chr5	52369034	52369034	C	A	Missense_Mutation	p.T839N	3
ITGA2	STAD	chr5	52351982	52351982	A	-	Splice_Site	p.G366_splice	3
ITGA2	ESCA	chr5	52385875	52385875	G	T	Missense_Mutation	p.V1150F	3
ITGA2	ACC	chr5	52368469	52368469	G	T	Missense_Mutation	p.E791D	3
ITGA2	UCS	chr5	52347299	52347299	A	C	Missense_Mutation	p.K230T	3
ITGA2	ACC	chr5	52358762	52358763	AA	-	Splice_Site	.	3
ITGA2	UCEC	chr5	52386352	52386352	G	A	Missense_Mutation	p.G1157S	3
ITGA2	UCEC	chr5	52385816	52385816	T	C	Missense_Mutation	p.V1130A	3
ITGA2	SKCM	chr5	52361784	52361784	C	T	Silent	p.A640A	3
ITGA2	UVM	chr5	52358678	52358678	C	T	Silent	p.D507D	3
ITGA2	SKCM	chr5	52367790	52367790	C	T	Missense_Mutation	p.S753F	3
ITGA2	SKCM	chr5	52374652	52374652	C	T	Missense_Mutation	p.S959L	3
ITGA2	BRCA	chr5	52366060	52366060	G	C	Missense_Mutation	p.Q735H	3
ITGA2	BRCA	chr5	52382807	52382807	C	T	Missense_Mutation	p.T1095M	3
ITGA2	UCEC	chr5	52344601	52344601	G	T	Splice_Site	e6+1	2
ITGA2	BLCA	chr5	52371064	52371064	G	A	Missense_Mutation		2
ITGA2	SARC	chr5	52340882	52340882	G	A	Missense_Mutation	p.G116D	2
ITGA2	STAD	chr5	52356848	52356848	C	T	Missense_Mutation	p.T477M	2
ITGA2	BLCA	chr5	52377489	52377489	C	T	Missense_Mutation	p.S1036F	2
ITGA2	UCEC	chr5	52376371	52376371	G	A	Missense_Mutation	p.A987T	2
ITGA2	LIHC	chr5	52347345	52347345	T	C	Silent		2
ITGA2	LIHC	chr5	52369005	52369005	G	A	Silent	p.L829L	2
ITGA2	SKCM	chr5	52360772	52360772	G	A	Missense_Mutation	p.G545S	2
ITGA2	UCEC	chr5	52351367	52351367	G	T	Splice_Site	e8-1	2
ITGA2	LUAD	chr5	52371076	52371076	G	A	Missense_Mutation	p.D923N	2
ITGA2	SKCM	chr5	52361759	52361759	C	T	Missense_Mutation	p.S632F	2
ITGA2	UCEC	chr5	52377428	52377428	G	T	Missense_Mutation	p.D1016Y	2
ITGA2	LUAD	chr5	52360854	52360854	T	A	Missense_Mutation	p.V572E	2
ITGA2	SKCM	chr5	52370278	52370278	G	A	Missense_Mutation	p.G879S	2
ITGA2	CESC	chr5	52344281	52344281	C	T	Missense_Mutation		2
ITGA2	UCEC	chr5	52355822	52355822	G	T	Missense_Mutation	p.R431I	2
ITGA2	LIHC	chr5	52351413	52351413	G	A	Silent		2
ITGA2	LIHC	chr5	52369005	52369005	G	A	Silent		2
ITGA2	SKCM	chr5	52379186	52379186	C	T	Missense_Mutation	p.S1054F	2
ITGA2	STAD	chr5	52344542	52344542	T	A	Missense_Mutation	p.V191E	2
ITGA2	BLCA	chr5	52351969	52351969	C	T	Silent	p.F362F	2
ITGA2	UCEC	chr5	52379187	52379187	C	A	Silent	p.S1054	2
ITGA2	LIHC	chr5	52340867	52340867	C	-	Frame_Shift_Del	p.T111fs	2
ITGA2	LUAD	chr5	52362956	52362956	G	C	Missense_Mutation	p.S651T	2
ITGA2	SKCM	chr5	52374640	52374640	G	A	Missense_Mutation	p.G955E	2
ITGA2	UCEC	chr5	52358720	52358720	G	T	Missense_Mutation	p.K521N	2
ITGA2	LUAD	chr5	52377468	52377468	G	T	Missense_Mutation	p.G1029V	2
ITGA2	SKCM	chr5	52379209	52379209	T	C	Silent	p.L1062L	2
ITGA2	ESCA	chr5	52385789	52385789	T	G	Missense_Mutation	p.I1121R	2
ITGA2	UCEC	chr5	52386365	52386365	G	T	Missense_Mutation	p.R1161I	2
ITGA2	LIHC	chr5	52355703	52355703	G	-	Splice_Site		2
ITGA2	SKCM	chr5	52360782	52360782	G	A	Missense_Mutation	p.G548D	2
ITGA2	UCEC	chr5	52369090	52369090	G	T	Splice_Site	p.P857_splice	2
ITGA2	UCEC	chr5	52360787	52360787	G	T	Nonsense_Mutation	p.E550*	2
ITGA2	LUAD	chr5	52360756	52360756	G	A	Silent	p.Q539Q	2
ITGA2	SARC	chr5	52366065	52366065	G	T	Missense_Mutation		2
ITGA2	SKCM	chr5	52353881	52353881	C	T	Nonsense_Mutation	p.Q375*	2
ITGA2	STAD	chr5	52379218	52379218	G	A	Missense_Mutation	p.V1065I	2
ITGA2	LIHC	chr5	52360788	52360788	A	-	Frame_Shift_Del	p.E550fs	2
ITGA2	LUAD	chr5	52360751	52360751	G	T	Missense_Mutation	p.G538C	2
ITGA2	PRAD	chr5	52362978	52362978	A	C	Missense_Mutation	p.E658D	2
ITGA2	BLCA	chr5	52347369	52347369	C	T	Silent		2
ITGA2	UCEC	chr5	52361767	52361767	G	A	Missense_Mutation	p.D635N	2
ITGA2	LIHC	chr5	52353865	52353865	A	G	Silent		2
ITGA2	LIHC	chr5	52347345	52347345	T	C	Silent	p.Y245Y	2
ITGA2	SARC	chr5	52340882	52340882	G	A	Missense_Mutation		2
ITGA2	SKCM	chr5	52371081	52371081	T	A	Missense_Mutation	p.N924K	2
ITGA2	LUAD	chr5	52356839	52356839	G	T	Missense_Mutation	p.G474V	2
ITGA2	COAD	chr5	52351413	52351413	G	A	Silent	p.T275T	2
ITGA2	HNSC	chr5	52371079	52371079	A	T	Missense_Mutation	p.N924Y	2
ITGA2	UCEC	chr5	52367767	52367767	G	T	Splice_Site	e18-1	2
ITGA2	STAD	chr5	52353888	52353888	A	G	Missense_Mutation	p.E377G	2
ITGA2	UVM	chr5	52358678	52358678	C	T	Silent		2
ITGA2	SKCM	chr5	52344192	52344192	G	A	Splice_Site		2
ITGA2	HNSC	chr5	52347333	52347333	G	A	Silent	p.Q241Q	2
ITGA2	UCEC	chr5	52367829	52367829	G	A	Missense_Mutation	p.G766D	2
ITGA2	LIHC	chr5	52356813	52356813	A	T	Silent	p.I465I	2
ITGA2	STAD	chr5	52366056	52366056	C	T	Missense_Mutation	p.A734V	2
ITGA2	ESCA	chr5	52370296	52370296	A	G	Missense_Mutation		2
ITGA2	KIRC	chr5	52363017	52363017	G	T	Missense_Mutation	p.K671N	2
ITGA2	UCEC	chr5	52338052	52338052	G	T	Splice_Site	e3+1	2
ITGA2	LGG	chr5	52344295	52344295	C	A	Missense_Mutation		2
ITGA2	BLCA	chr5	52361774	52361774	C	T	Missense_Mutation	p.S637F	2
ITGA2	COAD	chr5	52358762	52358764	AAA	-	Splice_Site	.	2
ITGA2	UCEC	chr5	52369005	52369005	G	T	Silent	p.L829	2
ITGA2	LIHC	chr5	52356813	52356813	A	T	Silent		2
ITGA2	ESCA	chr5	52385875	52385875	G	T	Missense_Mutation		2
ITGA2	TGCT	chr5	52379277	52379277	C	T	Silent		2
ITGA2	PRAD	chr5	52344214	52344214	C	A	Missense_Mutation	p.Q137K	2
ITGA2	SKCM	chr5	52374689	52374689	C	T	Silent	p.F971F	2
ITGA2	HNSC	chr5	52376453	52376453	T	C	Splice_Site		2
ITGA2	UCEC	chr5	52344308	52344308	G	A	Splice_Site	e5+1	2
ITGA2	BLCA	chr5	52355784	52355784	C	T	Silent	p.I418I	2
ITGA2	COAD	chr5	52358762	52358765	AAAA	-	Splice_Site	.	2
ITGA2	HNSC	chr5	52367846	52367846	G	A	Missense_Mutation	p.E772K	2
ITGA2	UCEC	chr5	52370272	52370272	G	A	Missense_Mutation	p.D877N	2
ITGA2	PAAD	chr5	52360796	52360796	C	T	Nonsense_Mutation	p.R553*	2
ITGA2	UCEC	chr5	52344497	52344497	T	C	Missense_Mutation	p.V176A	2
ITGA2	UCEC	chr5	52370896	52370896	T	A	Silent	p.T890	2
ITGA2	LGG	chr5	52379220	52379220	T	C	Silent		1
ITGA2	LUAD	chr5	52340915	52340915	G	C	Missense_Mutation	p.G127A	1
ITGA2	READ	chr5	52374634	52374634	C	T	Missense_Mutation	p.S953L	1
ITGA2	SKCM	chr5	52369055	52369055	C	T	Missense_Mutation	p.S846L	1
ITGA2	CESC	chr5	52347307	52347307	G	G	Missense_Mutation		1
ITGA2	HNSC	chr5	52361766	52361766	C	T	Silent		1
ITGA2	STAD	chr5	52362994	52362995	-	A	Frame_Shift_Ins	p.K664fs	1
ITGA2	LUAD	chr5	52361753	52361753	G	T	Missense_Mutation	p.G630V	1
ITGA2	LIHC	chr5	52322624	52322624	A	-	Frame_Shift_Del	p.A37fs	1
ITGA2	LUSC	chr5	52358679	52358679	G	T	Missense_Mutation	p.V508L	1
ITGA2	PAAD	chr5	52376439	52376439	G	A	Silent	p.V1009V	1
ITGA2	BRCA	chr5	52369086	52369086	G	A	Silent	p.L856	1
ITGA2	ESCA	chr5	52351981	52351982	-	A	Splice_Site		1
ITGA2	THCA	chr5	52285331	52285331	G	A	Silent	p.L11L	1
ITGA2	KIRP	chr5	52368456	52368456	A	C	Missense_Mutation	p.K787T	1
ITGA2	HNSC	chr5	52361760	52361760	C	T	Silent		1
ITGA2	LGG	chr5	52355772	52355772	T	C	Silent		1
ITGA2	READ	chr5	52385812	52385812	G	A	Missense_Mutation	p.E1129K	1
ITGA2	SKCM	chr5	52344306	52344306	G	A	Splice_Site	p.Q167_splice	1
ITGA2	BLCA	chr5	52351969	52351969	C	T	Silent		1
ITGA2	CESC	chr5	52344281	52344281	C	T	Missense_Mutation	p.S159L	1
ITGA2	STAD	chr5	52362994	52362995	-	A	Frame_Shift_Ins	p.E664fs	1
ITGA2	COAD	chr5	52368472	52368472	C	T	Silent	p.D792D	1
ITGA2	STAD	chr5	52344509	52344509	A	G	Missense_Mutation	p.D180G	1
ITGA2	HNSC	chr5	52361766	52361766	C	T	Silent	p.T634T	1
ITGA2	LIHC	chr5	52379216	52379216	A	G	Missense_Mutation	p.D1064G	1
ITGA2	LIHC	chr5	52351839	52351839	C	-	Frame_Shift_Del	p.A319fs	1
ITGA2	LUSC	chr5	52374695	52374695	C	T	Silent	p.F973F	1
ITGA2	PAAD	chr5	52356793	52356793	G	A	Missense_Mutation	p.A459T	1
ITGA2	GBM	chr5	52344242	52344242	C	T	Missense_Mutation	p.T146M	1
ITGA2	THYM	chr5	52356816	52356816	G	T	Silent		1
ITGA2	LGG	chr5	52344295	52344295	C	A	Missense_Mutation	p.P164T	1
ITGA2	HNSC	chr5	52366052	52366052	C	G	Missense_Mutation		1
ITGA2	READ	chr5	52366010	52366010	G	T	Nonsense_Mutation	p.E719X	1
ITGA2	SKCM	chr5	52361731	52361731	G	A	Missense_Mutation	p.D623N	1
ITGA2	BLCA	chr5	52369038	52369038	A	G	Silent		1
ITGA2	CESC	chr5	52351382	52351382	C	G	Nonsense_Mutation	p.S265*	1
ITGA2	COAD	chr5	52377521	52377521	G	T	Nonsense_Mutation	p.E1047X	1
ITGA2	STAD	chr5	52367773	52367773	C	A	Silent	p.P747P	1
ITGA2	HNSC	chr5	52366018	52366018	T	C	Silent	p.N721N	1
ITGA2	LIHC	chr5	52355778	52355778	T	-	Frame_Shift_Del	p.H416fs	1
ITGA2	LUSC	chr5	52358644	52358644	G	C	Missense_Mutation	p.C496S	1
ITGA2	PAAD	chr5	52360796	52360796	C	T	Nonsense_Mutation		1
ITGA2	CESC	chr5	52351377	52351377	T	C	Silent		1
ITGA2	GBM	chr5	52379238	52379238	C	A	Nonsense_Mutation		1
ITGA2	THYM	chr5	52361719	52361719	G	T	Missense_Mutation	p.G619W	1
ITGA2	LGG	chr5	52355772	52355772	T	C	Silent	p.H414H	1
ITGA2	HNSC	chr5	52360866	52360866	C	T	Missense_Mutation		1
ITGA2	LIHC	chr5	52379216	52379216	A	G	Missense_Mutation		1
ITGA2	LIHC	chr5	52370309	52370309	T	C	Splice_Site	.	1
ITGA2	SARC	chr5	52376366	52376366	G	T	Missense_Mutation		1
ITGA2	SKCM	chr5	52371052	52371052	G	A	Splice_Site	p.E915_splice	1
ITGA2	BLCA	chr5	52360797	52360797	G	T	Missense_Mutation		1
ITGA2	CESC	chr5	52351441	52351441	G	A	Missense_Mutation	p.E285K	1
ITGA2	STAD	chr5	52358665	52358666	AC	-	Frame_Shift_Del	p.503_503del	1
ITGA2	BLCA	chr5	52369038	52369038	A	G	Silent	p.G840G	1
ITGA2	COAD	chr5	52379277	52379277	C	T	Silent	p.F1084F	1
ITGA2	HNSC	chr5	52376453	52376453	T	C	Splice_Site	p.K1013_splice	1
ITGA2	LUAD	chr5	52347346	52347346	G	T	Missense_Mutation	p.G246C	1
ITGA2	LIHC	chr5	52360746	52360746	T	-	Frame_Shift_Del	p.I536fs	1
ITGA2	LUSC	chr5	52377486	52377486	T	A	Missense_Mutation	p.V1035E	1
ITGA2	PRAD	chr5	52351982	52351982	A	-	Splice_Site	.	1
ITGA2	CESC	chr5	52351876	52351876	A	G	Silent		1
ITGA2	GBM	chr5	52360826	52360826	G	A	Missense_Mutation		1
ITGA2	LGG	chr5	52379220	52379220	T	C	Silent	p.V1065V	1
ITGA2	HNSC	chr5	52344594	52344594	G	A	Silent	p.K208K	1
ITGA2	LIHC	chr5	52376363	52376363	T	C	Missense_Mutation		1
ITGA2	LIHC	chr5	52376343	52376343	A	G	Silent	p.V977V	1
ITGA2	BLCA	chr5	52363045	52363045	T	C	Missense_Mutation		1
ITGA2	CESC	chr5	52386428	52386428	G	A	Silent	p.*1182	1
ITGA2	SKCM	chr5	52344192	52344192	G	A	Splice_Site	.	1
ITGA2	BLCA	chr5	52363045	52363045	T	C	Missense_Mutation	p.F681L	1
ITGA2	COAD	chr5	52382788	52382788	T	C	Missense_Mutation	p.F1089L	1
ITGA2	STAD	chr5	52369066	52369067	-	T	Frame_Shift_Ins	p.L849fs	1
ITGA2	KICH	chr5	52376390	52376393	TCCC	-	Frame_Shift_Del		1
ITGA2	UCS	chr5	52347299	52347299	A	C	Missense_Mutation		1
ITGA2	LUAD	chr5	52374604	52374604	C	G	Missense_Mutation	p.S943C	1
ITGA2	LUSC	chr5	52340858	52340858	A	T	Missense_Mutation	p.E108V	1
ITGA2	SKCM	chr5	52338039	52338039	C	T	Silent	p.L95L	1
ITGA2	CESC	chr5	52368472	52368472	C	T	Silent		1
ITGA2	HNSC	chr5	52367846	52367846	G	A	Missense_Mutation		1
ITGA2	UCEC	chr5	52344308	52344308	G	A	Splice_Site	p.P168_splice	1
ITGA2	LGG	chr5	52376351	52376351	G	T	Missense_Mutation	p.G980V	1
ITGA2	COAD	chr5	52351377	52351377	T	C	Silent	p.A263A	1
ITGA2	HNSC	chr5	52361760	52361760	C	T	Silent	p.S632S	1
ITGA2	LUAD	chr5	52376359	52376359	C	G	Missense_Mutation	p.P983A	1
ITGA2	SKCM	chr5	52371124	52371124	C	T	Missense_Mutation	p.H939Y	1
ITGA2	STAD	chr5	52369065	52369066	-	T	Frame_Shift_Ins	p.L849fs	1
ITGA2	BLCA	chr5	52370947	52370947	T	G	Silent	p.S907S	1
ITGA2	COAD	chr5	52385775	52385775	G	A	Splice_Site	.	1
ITGA2	ESCA	chr5	52385789	52385789	T	G	Missense_Mutation		1
ITGA2	STAD	chr5	52358665	52358666	AC	-	Frame_Shift_Del	p.D503fs	1
ITGA2	KICH	chr5	52376390	52376393	TCCC	-	Frame_Shift_Del	p.993_994del	1
ITGA2	LIHC	chr5	52344549	52344549	T	-	Frame_Shift_Del	p.N193fs	1
ITGA2	LUAD	chr5	52367778	52367778	A	C	Missense_Mutation	p.D749A	1
ITGA2	OV	chr5	52398838	52398838	C	T	Nonsense_Mutation	p.Q693*	1
ITGA2	PRAD	chr5	52344197	52344197	G	A	Missense_Mutation	p.C131Y	1
ITGA2	SKCM	chr5	52386420	52386420	C	A	Silent	p.L1179L	1
ITGA2	CESC	chr5	52369002	52369002	G	A	Silent		1
ITGA2	HNSC	chr5	52347333	52347333	G	A	Silent		1
ITGA2	LGG	chr5	52337985	52337985	A	G	Missense_Mutation	p.M77V	1
ITGA2	BLCA	chr5	52370947	52370947	T	G	Silent		1
ITGA2	LIHC	chr5	52382788	52382788	T	C	Missense_Mutation		1
ITGA2	LIHC	chr5	52371063	52371063	A	G	Silent	p.E918E	1
ITGA2	LUAD	chr5	52371050	52371050	G	T	Splice_Site		1
ITGA2	SARC	chr5	52344571	52344571	G	T	Missense_Mutation		1
ITGA2	SKCM	chr5	52385787	52385788	-	ATA	In_Frame_Ins	p.1120_1121IN>IYN	1
ITGA2	SKCM	chr5	52353881	52353881	C	T	Nonsense_Mutation	p.Q375X	1
ITGA2	BLCA	chr5	52344486	52344486	C	G	Silent	p.L172L	1
ITGA2	COAD	chr5	52365973	52365974	-	T	Frame_Shift_Ins	p.G706fs	1
ITGA2	ESCA	chr5	52369001	52369001	C	T	Missense_Mutation		1
ITGA2	STAD	chr5	52377476	52377478	TCT	-	In_Frame_Del	p.S1034del	1
ITGA2	KICH	chr5	52376390	52376393	TCCC	-	Frame_Shift_Del	p.I993fs	1
ITGA2	LIHC	chr5	52347369	52347369	C	-	Frame_Shift_Del	p.F253fs	1
ITGA2	LUAD	chr5	52356877	52356877	G	T	Splice_Site		1
ITGA2	LUAD	chr5	52370967	52370967	G	A	Splice_Site	p.S914_splice	1
ITGA2	OV	chr5	52413255	52413255	G	A	Missense_Mutation	p.S1039N	1
ITGA2	PRAD	chr5	52361704	52361704	C	T	Missense_Mutation	p.H614Y	1
ITGA2	BLCA	chr5	52382783	52382783	C	T	Missense_Mutation		1
ITGA2	CESC	chr5	52361713	52361713	T	C	Missense_Mutation		1
ITGA2	HNSC	chr5	52285328	52285328	G	C	Silent		1
ITGA2	LGG	chr5	52376441	52376441	A	-	Frame_Shift_Del	p.Q1010fs	1
ITGA2	BLCA	chr5	52382783	52382783	C	T	Splice_Site	p.S1087L	1
ITGA2	COAD	chr5	52351876	52351876	A	G	Silent	p.A331A	1
ITGA2	LIHC	chr5	52379183	52379183	C	A	Missense_Mutation		1
ITGA2	SARC	chr5	52367835	52367835	G	T	Missense_Mutation		1
ITGA2	STAD	chr5	52366069	52366069	C	T	Silent		1
ITGA2	DLBC	chr5	52351856	52351856	T	C	Silent	p.L325L	1
ITGA2	TGCT	chr5	52385806	52385806	A	C	Missense_Mutation		1
ITGA2	LIHC	chr5	52353888	52353888	A	-	Frame_Shift_Del	p.E377fs	1
ITGA2	LUAD	chr5	52374657	52374657	G	A	Missense_Mutation	p.V961M	1
ITGA2	LUAD	chr5	52386429	52386429	A	C	Nonstop_Mutation	p.*1182C	1
ITGA2	OV	chr5	52406020	52406020	G	C	Missense_Mutation	p.V874L	1
ITGA2	PRAD	chr5	52360743	52360743	G	A	Splice_Site	p.G535_splice	1
ITGA2	SKCM	chr5	52347268	52347268	C	T	Missense_Mutation	p.P220S	1
ITGA2	BLCA	chr5	52361774	52361774	C	T	Missense_Mutation		1
ITGA2	CESC	chr5	52351441	52351441	G	A	Missense_Mutation		1
ITGA2	HNSC	chr5	52371079	52371079	A	T	Missense_Mutation		1
ITGA2	HNSC	chr5	52360866	52360866	C	T	Missense_Mutation	p.S576L	1
ITGA2	LIHC	chr5	52376395	52376395	C	T	Nonsense_Mutation	p.Q995X	1
ITGA2	LUAD	chr5	52361674	52361674	A	C	Missense_Mutation	p.I604L	1
ITGA2	SARC	chr5	52344287	52344287	G	T	Missense_Mutation		1
ITGA2	STAD	chr5	52356848	52356848	C	T	Missense_Mutation		1
ITGA2	STAD	chr5	52377476	52377478	TCT	-	In_Frame_Del	p.1031_1032del	1
ITGA2	DLBC	chr5	52347391	52347391	T	A	Splice_Site	.	1
ITGA2	KIRC	chr5	52360748	52360748	T	C	Silent	p.L537L	1
ITGA2	LIHC	chr5	52377440	52377440	A	-	Frame_Shift_Del	p.N1020fs	1
ITGA2	LUAD	chr5	52358631	52358631	G	-	Frame_Shift_Del	p.G492fs	1
ITGA2	LUAD	chr5	52351368	52351368	A	G	Splice_Site	p.R260_splice	1
ITGA2	PAAD	chr5	52360796	52360796	C	T	Nonsense_Mutation	p.R553X	1
ITGA2	BLCA	chr5	52360925	52360925	A	G	Missense_Mutation		1
ITGA2	CESC	chr5	52361730	52361730	G	T	Missense_Mutation		1
ITGA2	LGG	chr5	52337985	52337985	A	G	Missense_Mutation		1
ITGA2	LIHC	chr5	52344198	52344198	T	C	Silent		1
ITGA2	LIHC	chr5	52367816	52367816	C	A	Missense_Mutation	p.L762M	1
ITGA2	LUAD	chr5	52353897	52353897	A	T	Missense_Mutation	p.Q380L	1
ITGA2	SARC	chr5	52285312	52285312	G	T	Missense_Mutation		1
ITGA2	STAD	chr5	52362994	52362995	-	-	Frame_Shift_Ins		1
ITGA2	ESCA	chr5	52351981	52351982	-	A	Splice_Site	e9+2	1
ITGA2	ESCA	chr5	52351981	52351982	-	A	Splice_Site	.	1
ITGA2	THCA	chr5	52338039	52338040	-	-	Frame_Shift_Ins		1
ITGA2	LIHC	chr5	52366066	52366066	C	-	Frame_Shift_Del	p.C737fs	1
ITGA2	LUAD	chr5	52371050	52371050	G	T	Splice_Site	p.S914_splice	1
ITGA2	LUAD	chr5	52347245	52347245	G	T	Missense_Mutation	p.G212V	1
ITGA2	SKCM	chr5	52369037	52369037	G	A	Missense_Mutation	p.G840E	1
ITGA2	BLCA	chr5	52377489	52377489	C	T	Missense_Mutation		1
ITGA2	CESC	chr5	52386428	52386428	G	A	Silent		1
ITGA2	HNSC	chr5	52351412	52351412	C	T	Missense_Mutation		1
ITGA2	LGG	chr5	52376351	52376351	G	T	Missense_Mutation		1
ITGA2	BLCA	chr5	52360925	52360925	A	G	Missense_Mutation	p.I596V	1
ITGA2	COAD	chr5	52360797	52360797	G	A	Missense_Mutation	p.R553Q	1
ITGA2	STAD	chr5	52344584	52344584	G	A	Missense_Mutation	p.G205D	1
ITGA2	HNSC	chr5	52366052	52366052	C	G	Missense_Mutation	p.Q733E	1
ITGA2	LIHC	chr5	52347280	52347280	T	C	Missense_Mutation		1
ITGA2	LIHC	chr5	52371092	52371092	T	C	Missense_Mutation	p.L928P	1
ITGA2	LUAD	chr5	52361752	52361752	G	T	Missense_Mutation	p.G630W	1
ITGA2	SARC	chr5	52367770	52367770	G	T	Missense_Mutation		1
ITGA2	STAD	chr5	52344584	52344584	G	A	Missense_Mutation		1
ITGA2	SKCM	chr5	52344306	52344306	G	A	Silent	p.Q167Q	1
ITGA2	ESCA	chr5	52358761	52358762	-	A	Splice_Site	e13+2	1
ITGA2	ESCA	chr5	52285351	52285351	C	T	Missense_Mutation	p.A18V	1
ITGA2	THCA	chr5	52366068	52366068	C	A	Missense_Mutation		1
ITGA2	KIRP	chr5	52360928	52360928	C	A	Missense_Mutation	p.R597S	1
ITGA2	LIHC	chr5	52369050	52369050	T	-	Frame_Shift_Del	p.D844fs	1
ITGA2	LUSC	chr5	52355737	52355737	G	T	Missense_Mutation	p.G403C	1

Copy number variation (CNV) of ITGA2
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across ITGA2
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
99883	N/A	EF580628	DCDC1	chr11	31234483	-	ITGA2	chr5	52337103	-
99883	SKCM	TCGA-EB-A5KH-06A	DGCR8	chr22	20080430	-	ITGA2	chr5	52385776	+
88404	LUSC	TCGA-63-A5M9-01A	ITGA2	chr5	52379283	+	CEACAM21	chr19	42083552	+
95997	N/A	FN169249	ITGA2	chr5	52344439	-	ERBB4	chr2	212965040	+
99902	CESC	TCGA-FU-A2QG-01A	ITGA2	chr5	52285362	+	GPX8	chr5	54456158	+
99883	N/A	AA587833	ITGA2	chr5	52294905	+	ITGA2	chr5	52294851	-
103175	KIRP	TCGA-P4-A5EB-01A	ITGA2	chr5	52353931	+	MYO18B	chr22	26388329	+
86785	HNSC	TCGA-CV-7414-01A	ITGA2	chr5	52285362	+	NDUFS4	chr5	52942063	+
100479	N/A	BF913923	ITGA2	chr5	52285618	+	NTRK1	chr1	156791271	+
62856	CESC	TCGA-VS-A8EI-01A	ITGA2	chr5	52285362	+	PARP8	chr5	50055477	+
63761	KIRP	TCGA-B9-A5W9-01A	ITGA2	chr5	52285362	+	RNF180	chr5	63621013	+
92614	STAD	TCGA-EQ-8122-01A	ITGA2	chr5	52382871	+	TNFAIP8	chr5	118728511	+
99883	N/A	BM988108	SLC10A7	chr4	147309901	-	ITGA2	chr5	52294803	+
99883	N/A	FN156755	SYT16	chr14	62485723	-	ITGA2	chr5	52377851	+
99900	N/A	AI733222	YAP1	chr11	101983683	+	ITGA2	chr5	52384846	+

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Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
KIRP	ITGA2	0.000443359430670443	0.012
ACC	ITGA2	0.0100372950411802	0.27
LUAD	ITGA2	0.0149704104106486	0.39
TGCT	ITGA2	0.0209403252967888	0.52
KIRC	ITGA2	0.0354847461091055	0.85
READ	ITGA2	0.0403697996758697	0.93
SKCM	ITGA2	0.0432558529017423	0.95

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Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
STAD	ITGA2	0.00291911055881433	0.09
LUAD	ITGA2	0.00513622120932502	0.15
LUSC	ITGA2	0.0118411141415985	0.34
KIRP	ITGA2	0.0341956260334147	0.89
GBM	ITGA2	0.00254984177624576	0.082
BRCA	ITGA2	0.000654116470909594	0.022
THYM	ITGA2	0.0129274457217745	0.35
READ	ITGA2	0.0125278135905609	0.35

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Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C0014175	Endometriosis	1	CTD_human
C0035328	Retinal Vein Occlusion	1	CTD_human
C0269102	Endometrioma	1	CTD_human
C1527411	Thrombosis of retinal vein	1	CTD_human
C3280114	Glycoprotein IA Deficiency	1	CTD_human;GENOMICS_ENGLAND