#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
PCED1A	64773	broad.mit.edu	37	20	2820542	2820542	+	Missense_Mutation	SNP	G	G	A	rs373332762		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr20:2820542G>A	ENST00000360652.2	-	2	519	c.17C>T	c.(16-18)tCg>tTg	p.S6L	VPS16_ENST00000380445.3_5'Flank|VPS16_ENST00000380469.3_5'Flank|PCED1A_ENST00000356872.3_Missense_Mutation_p.S6L	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	6																	CTCCTCGCTCGACAGACAGAA	0.642																																						ENST00000360652.2																			0											c.(16-18)tCg>tTg		PC-esterase domain containing 1A							50.0	47.0	48.0					20																	2820542		2203	4300	6503	SO:0001583	missense	64773							g.chr20:2820542G>A	AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.17C>T	20.37:g.2820542G>A	ENSP00000353868:p.Ser6Leu					PCED1A_ENST00000356872.3_Missense_Mutation_p.S6L	p.S6L	NM_022760.3	NP_073597.2					2	519	-								Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	ENST00000360652.2	37	c.17C>T	CCDS13035.1	.	.	.	.	.	.	.	.	.	.	G	13.04	2.119838	0.37436	.	.	ENSG00000132635	ENST00000356872;ENST00000360652;ENST00000380531;ENST00000448755;ENST00000439542	T;T;T;T	0.44482	0.92;0.93;0.93;0.95	3.83	2.73	0.32206	.	0.781358	0.10830	N	0.629451	T	0.21801	0.0525	N	0.08118	0	0.20764	N	0.999858	B;B	0.25743	0.133;0.031	B;B	0.14023	0.01;0.006	T	0.14952	-1.0454	10	0.52906	T	0.07	-0.827	7.3253	0.26551	0.0:0.0:0.2424:0.7576	.	6;6	Q9H1Q7-2;Q9H1Q7	.;F113A_HUMAN	L	6	ENSP00000349334:S6L;ENSP00000353868:S6L;ENSP00000388935:S6L;ENSP00000401711:S6L	ENSP00000349334:S6L	S	-	2	0	FAM113A	2768542	0.654000	0.27367	0.678000	0.29963	0.673000	0.39480	0.830000	0.27462	0.824000	0.34613	-0.262000	0.10625	TCG		0.642	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077676.2	NM_022760		4	36	0	0	0	1	0	4	36				
TPRX1	284355	broad.mit.edu	37	19	48305603	48305603	+	Missense_Mutation	SNP	G	G	A	rs199739873		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr19:48305603G>A	ENST00000322175.3	-	2	820	c.665C>T	c.(664-666)cCg>cTg	p.P222L	TPRX1_ENST00000543508.1_Missense_Mutation_p.P212L|TPRX1_ENST00000535759.1_Missense_Mutation_p.P319L	NM_198479.2	NP_940881.2	Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	222	Gly-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.P222L(1)		endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		gcctgggatcgggcctgggtt	0.667																																					Esophageal Squamous(123;175 2281 3051 32395)	ENST00000535759.1																			1	Substitution - Missense(1)	p.P222L(1)	prostate(1)	endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18						c.(955-957)cCg>cTg		tetra-peptide repeat homeobox 1							12.0	10.0	10.0					19																	48305603		1907	3812	5719	SO:0001583	missense	284355					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:48305603G>A		CCDS33066.1	19q13.33	2011-07-08			ENSG00000178928	ENSG00000178928		"""Homeoboxes / PRD class"""	32174	protein-coding gene	gene with protein product		611166					Standard	XM_005258788		Approved	FLJ40321	uc002php.2	Q8N7U7		ENST00000322175.3:c.665C>T	19.37:g.48305603G>A	ENSP00000323455:p.Pro222Leu					TPRX1_ENST00000322175.3_Missense_Mutation_p.P222L|TPRX1_ENST00000543508.1_Missense_Mutation_p.P212L	p.P319L			Q8N7U7	TPRX1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)	4	955	-		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)	222			Gly-rich.		A5D8Y3|B2RPL5	Missense_Mutation	SNP	ENST00000322175.3	37	c.956C>T	CCDS33066.1	.	.	.	.	.	.	.	.	.	.	g	4.957	0.177797	0.09443	.	.	ENSG00000178928	ENST00000322175;ENST00000535759;ENST00000543508	D;D;T	0.93659	-2.02;-3.26;-0.19	0.401	-0.802	0.10889	.	.	.	.	.	D	0.83727	0.5317	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.70901	-0.4746	8	0.56958	D	0.05	.	.	.	.	.	222	Q8N7U7	TPRX1_HUMAN	L	222;319;212	ENSP00000323455:P222L;ENSP00000438832:P319L;ENSP00000438712:P212L	ENSP00000323455:P222L	P	-	2	0	TPRX1	52997415	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.050000	0.03510	-0.453000	0.07076	-0.462000	0.05337	CCG		0.667	TPRX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409868.1	NM_198479		2	1	0	0	0	1	0	2	1				
FBXL14	144699	broad.mit.edu	37	12	1703090	1703090	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr12:1703090A>C	ENST00000339235.3	-	1	241	c.143T>G	c.(142-144)gTg>gGg	p.V48G	FBXL14_ENST00000543278.1_5'Flank|WNT5B_ENST00000537031.1_Intron	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	F-box and leucine-rich repeat protein 14	48	F-box.|Required for down-regulation of SNAI1.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00115)			CTTGGCCTCCACCCCCCGCCA	0.731																																						ENST00000339235.3																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	8						c.(142-144)gTg>gGg		F-box and leucine-rich repeat protein 14							7.0	9.0	8.0					12																	1703090		2147	4245	6392	SO:0001583	missense	144699					cytoplasm		g.chr12:1703090A>C	BC028132	CCDS8509.1	12p13.33	2011-06-09			ENSG00000171823	ENSG00000171823		"""F-boxes / Leucine-rich repeats"""	28624	protein-coding gene	gene with protein product		609081				12477932	Standard	NM_152441		Approved	MGC40195, Fbl14	uc001qjh.3	Q8N1E6	OTTHUMG00000090369	ENST00000339235.3:c.143T>G	12.37:g.1703090A>C	ENSP00000344855:p.Val48Gly					WNT5B_ENST00000537031.1_Intron	p.V48G	NM_152441.2	NP_689654.1	Q8N1E6	FXL14_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00115)		1	241	-	Ovarian(42;0.107)		48			F-box.|Required for down-regulation of SNAI1.			Missense_Mutation	SNP	ENST00000339235.3	37	c.143T>G	CCDS8509.1	.	.	.	.	.	.	.	.	.	.	A	16.95	3.263601	0.59431	.	.	ENSG00000171823	ENST00000339235	T	0.56776	0.44	4.03	4.03	0.46877	F-box domain, cyclin-like (1);	0.155201	0.43260	D	0.000588	T	0.74913	0.3779	M	0.93678	3.445	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.78001	-0.2375	10	0.87932	D	0	.	6.3942	0.21603	0.8088:0.0:0.1912:0.0	.	48	Q8N1E6	FXL14_HUMAN	G	48	ENSP00000344855:V48G	ENSP00000344855:V48G	V	-	2	0	FBXL14	1573351	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.648000	0.83479	1.684000	0.51022	0.254000	0.18369	GTG		0.731	FBXL14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206741.1	NM_152441		6	7	0	0	0	1	0	6	7				
RP11-423O2.5	0	broad.mit.edu	37	1	142803401	142803401	+	lincRNA	SNP	C	C	A	rs1920860	byFrequency	TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr1:142803401C>A	ENST00000423385.1	-	0	1564																											ctgagctcctcaagtgatcct	0.368													.|||	472	0.0942492	0.1271	0.0807	5008	,	,		55955	0.1399		0.0656	False		,,,				2504	0.0419					ENST00000423385.1																			0																																																			0							g.chr1:142803401C>A																													1.37:g.142803401C>A														0	1564	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.368	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	15	1	0	0.00909568	1	0.00955046	3	15				
LRP1B	53353	broad.mit.edu	37	2	141092024	141092024	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr2:141092024G>T	ENST00000389484.3	-	79	13192	c.12221C>A	c.(12220-12222)aCa>aAa	p.T4074K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4074					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AATCATACCTGTGGGTCTCTG	0.363										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(12220-12222)aCa>aAa		low density lipoprotein receptor-related protein 1B							152.0	141.0	145.0					2																	141092024		2203	4300	6503	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141092024G>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12221C>A	2.37:g.141092024G>T	ENSP00000374135:p.Thr4074Lys	TSP Lung(27;0.18)					p.T4074K	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	79	13192	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	4074					Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.12221C>A	CCDS2182.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.235790|5.235790	0.95240|0.95240	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.95980	.|-3.87	6.08|6.08	6.08|6.08	0.98989|0.98989	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.064457	.|0.64402	.|D	.|0.000009	D|D	0.97002|0.97002	0.9021|0.9021	L|L	0.46947|0.46947	1.48|1.48	0.58432|0.58432	D|D	0.999993|0.999993	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	D|D	0.96775|0.96775	0.9571|0.9571	5|10	.|0.59425	.|D	.|0.04	.|.	20.6721|20.6721	0.99693|0.99693	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4074	.|Q9NZR2	.|LRP1B_HUMAN	K|K	306|4074;4012	.|ENSP00000374135:T4074K	.|ENSP00000374135:T4074K	Q|T	-|-	1|2	0|0	LRP1B|LRP1B	140808494|140808494	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.881000|0.881000	0.50899|0.50899	9.231000|9.231000	0.95317|0.95317	2.894000|2.894000	0.99253|0.99253	0.591000|0.591000	0.81541|0.81541	CAG|ACA		0.363	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		4	50	1	0	0.150653	1	0.150653	4	50				
HIST1H2BG	8339	broad.mit.edu	37	6	26216864	26216864	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr6:26216864T>A	ENST00000244601.3	-	1	8	c.8A>T	c.(7-9)gAa>gTa	p.E3V	HIST1H2AE_ENST00000303910.2_5'Flank	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	3					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				CTTAGCTGGTTCAGGCATGCT	0.478																																						ENST00000244601.3																			0				endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8						c.(7-9)gAa>gTa		histone cluster 1, H2bg							83.0	78.0	80.0					6																	26216864		2203	4300	6503	SO:0001583	missense	8339				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	g.chr6:26216864T>A	M60750	CCDS4594.1	6p21.3	2011-01-27	2006-10-11	2003-02-14	ENSG00000187990	ENSG00000273802		"""Histones / Replication-dependent"""	4746	protein-coding gene	gene with protein product		602798	"""H2B histone family, member A"", ""histone 1, H2bg"""	H2BFA		1916825, 12408966	Standard	NM_003518		Approved	H2B/a, H2B.1A	uc003ngz.2	P62807	OTTHUMG00000014446	ENST00000244601.3:c.8A>T	6.37:g.26216864T>A	ENSP00000244601:p.Glu3Val						p.E3V	NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN			1	8	-		all_hematologic(11;0.196)	3					P02278|Q3B872|Q4VB69|Q93078|Q93080	Missense_Mutation	SNP	ENST00000244601.3	37	c.8A>T	CCDS4594.1	.	.	.	.	.	.	.	.	.	.	.	10.70	1.424347	0.25639	.	.	ENSG00000187990	ENST00000244601	T	0.19250	2.16	3.9	3.9	0.45041	.	.	.	.	.	T	0.23688	0.0573	.	.	.	0.34722	D	0.72883	.	.	.	.	.	.	T	0.05007	-1.0912	6	0.87932	D	0	.	12.3389	0.55083	0.0:0.0:0.0:1.0	.	.	.	.	V	3	ENSP00000244601:E3V	ENSP00000244601:E3V	E	-	2	0	HIST1H2BG	26324843	1.000000	0.71417	0.841000	0.33234	0.007000	0.05969	5.732000	0.68563	1.756000	0.51951	0.533000	0.62120	GAA		0.478	HIST1H2BG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040109.2	NM_003518		7	75	0	0	0	1	0	7	75				
NCOR2	9612	broad.mit.edu	37	12	124862887	124862887	+	Missense_Mutation	SNP	G	G	A	rs200172145		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr12:124862887G>A	ENST00000405201.1	-	18	2063	c.2063C>T	c.(2062-2064)gCg>gTg	p.A688V	NCOR2_ENST00000397355.1_Missense_Mutation_p.A688V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A258V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A687V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A687V|NCOR2_ENST00000356219.3_Missense_Mutation_p.A688V			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	688					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCTGGCCGCCGCCGGCGCTTT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		15850	0.0		0.001	False		,,,				2504	0.0					ENST00000356219.3																			0				breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(2062-2064)gCg>gTg		nuclear receptor corepressor 2		G	VAL/ALA,VAL/ALA,VAL/ALA	1,3971		0,1,1985	37.0	45.0	42.0		2060,2060,2063	4.5	0.1	12		42	3,8287		0,3,4142	yes	missense,missense,missense	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	64,64,64	0,4,6127	AA,AG,GG		0.0362,0.0252,0.0326	possibly-damaging,possibly-damaging,possibly-damaging	687/2459,687/2505,688/2515	124862887	4,12258	1986	4145	6131	SO:0001583	missense	9612				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	g.chr12:124862887G>A	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.2063C>T	12.37:g.124862887G>A	ENSP00000384018:p.Ala688Val					NCOR2_ENST00000405201.1_Missense_Mutation_p.A688V|NCOR2_ENST00000404621.1_Missense_Mutation_p.A687V|NCOR2_ENST00000404121.2_Missense_Mutation_p.A258V|NCOR2_ENST00000397355.1_Missense_Mutation_p.A688V|NCOR2_ENST00000429285.2_Missense_Mutation_p.A687V	p.A688V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN		Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)	19	2218	-	all_neural(191;0.0804)|Medulloblastoma(191;0.163)		688					O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	c.2063C>T	CCDS41858.2	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	6.971	0.549131	0.13312	2.52E-4	3.62E-4	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234;ENST00000448614	T;T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5;1.5	4.52	4.52	0.55395	.	0.059788	0.64402	D	0.000003	T	0.24547	0.0595	L	0.42245	1.32	0.18873	N	0.999986	P;P;P	0.48407	0.854;0.854;0.91	B;B;B	0.38985	0.149;0.149;0.287	T	0.21999	-1.0229	10	0.46703	T	0.11	-16.7196	11.1846	0.48648	0.0858:0.0:0.9142:0.0	.	687;688;688	C9J0Q5;C9J239;C9JFD3	.;.;.	V	688;687;688;688;688;258;687;688;78	ENSP00000384018:A688V;ENSP00000384202:A687V;ENSP00000348551:A688V;ENSP00000380513:A688V;ENSP00000385618:A258V;ENSP00000400281:A687V;ENSP00000402808:A688V;ENSP00000408247:A78V	ENSP00000348551:A688V	A	-	2	0	NCOR2	123428840	1.000000	0.71417	0.077000	0.20336	0.122000	0.20287	5.793000	0.69060	2.221000	0.72209	0.462000	0.41574	GCG		0.662	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312		3	30	0	0	0	1	0	3	30				
SPATA21	374955	broad.mit.edu	37	1	16727315	16727315	+	Silent	SNP	C	C	A			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr1:16727315C>A	ENST00000335496.1	-	11	1556	c.1074G>T	c.(1072-1074)cgG>cgT	p.R358R	SPATA21_ENST00000540400.1_Silent_p.R335R|SPATA21_ENST00000466212.1_5'UTR	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	358							calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		GCTTCTGCAACCGCAGCCGGC	0.577																																						ENST00000335496.1																			0				breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19						c.(1072-1074)cgG>cgT		spermatogenesis associated 21							114.0	130.0	125.0					1																	16727315		2203	4300	6503	SO:0001819	synonymous_variant	374955						calcium ion binding	g.chr1:16727315C>A		CCDS172.1	1p36.13	2013-01-10			ENSG00000187144	ENSG00000187144		"""EF-hand domain containing"""	28026	protein-coding gene	gene with protein product							Standard	NM_198546		Approved	spergen-2, spergen2	uc001ayn.3	Q7Z572	OTTHUMG00000002312	ENST00000335496.1:c.1074G>T	1.37:g.16727315C>A						SPATA21_ENST00000540400.1_Silent_p.R335R|SPATA21_ENST00000466212.1_5'UTR	p.R358R	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)	11	1556	-		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)	358					B9EK40|F5GXP5	Silent	SNP	ENST00000335496.1	37	c.1074G>T	CCDS172.1																																																																																				0.577	SPATA21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006677.2	NM_198546		8	180	1	0	5.18039e-06	1	6.04379e-06	8	180				
OR10G4	390264	broad.mit.edu	37	11	123886818	123886818	+	Silent	SNP	C	C	T	rs140418650	byFrequency	TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr11:123886818C>T	ENST00000320891.4	+	1	537	c.537C>T	c.(535-537)gaC>gaT	p.D179D		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	179						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACTTCTGTGACGCACCGCCCA	0.542																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(535-537)gaC>gaT		olfactory receptor, family 10, subfamily G, member 4							191.0	163.0	173.0					11																	123886818		2201	4297	6498	SO:0001819	synonymous_variant	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886818C>T	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.537C>T	11.37:g.123886818C>T							p.D179D	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	537	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	179					Q6IEW0	Silent	SNP	ENST00000320891.4	37	c.537C>T	CCDS31702.1																																																																																				0.542	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		9	144	0	0	0	1	0	9	144				
TAS1R2	80834	broad.mit.edu	37	1	19166742	19166742	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr1:19166742G>A	ENST00000375371.3	-	6	1892	c.1871C>T	c.(1870-1872)cCg>cTg	p.P624L		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	624					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GACCTTGGGCGGCCCCACGTA	0.612																																						ENST00000375371.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(1870-1872)cCg>cTg		taste receptor, type 1, member 2	Aspartame(DB00168)						71.0	71.0	71.0					1																	19166742		2203	4300	6503	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19166742G>A		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1871C>T	1.37:g.19166742G>A	ENSP00000364520:p.Pro624Leu						p.P624L	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	6	1892	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	624					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.1871C>T	CCDS187.1	.	.	.	.	.	.	.	.	.	.	G	7.756	0.704297	0.15172	.	.	ENSG00000179002	ENST00000375371	D	0.87809	-2.3	5.52	-6.56	0.01848	GPCR, family 3, C-terminal (2);	0.916624	0.09151	N	0.841576	T	0.74473	0.3721	L	0.37850	1.14	0.26714	N	0.970918	B	0.10296	0.003	B	0.12156	0.007	T	0.59705	-0.7404	10	0.52906	T	0.07	.	2.249	0.04039	0.1349:0.1822:0.2886:0.3943	.	624	Q8TE23	TS1R2_HUMAN	L	624	ENSP00000364520:P624L	ENSP00000364520:P624L	P	-	2	0	TAS1R2	19039329	0.000000	0.05858	0.546000	0.28166	0.088000	0.18126	-0.628000	0.05515	-0.910000	0.03847	-0.258000	0.10820	CCG		0.612	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1			7	77	0	0	0	1	0	7	77				
SERPINB3	6317	broad.mit.edu	37	18	61328408	61328408	+	Missense_Mutation	SNP	G	G	T	rs375182717		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr18:61328408G>T	ENST00000283752.5	-	2	186	c.43C>A	c.(43-45)Ctg>Atg	p.L15M	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.L15M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	15					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTTGGAACAGGTCGAACATG	0.433																																						ENST00000283752.5																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						c.(43-45)Ctg>Atg		serpin peptidase inhibitor, clade B (ovalbumin), member 3							329.0	289.0	302.0					18																	61328408		2203	4300	6503	SO:0001583	missense	6317				regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	g.chr18:61328408G>T	U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.43C>A	18.37:g.61328408G>T	ENSP00000283752:p.Leu15Met					SERPINB3_ENST00000332821.8_Missense_Mutation_p.L15M|SERPINB11_ENST00000489748.1_RNA	p.L15M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN			2	186	-			15					A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Missense_Mutation	SNP	ENST00000283752.5	37	c.43C>A	CCDS11987.1	.	.	.	.	.	.	.	.	.	.	G	9.857	1.195185	0.22037	.	.	ENSG00000057149	ENST00000283752;ENST00000332821	D;D	0.90385	-2.66;-2.66	3.13	0.163	0.14986	Serpin domain (3);	0.579212	0.13336	N	0.395565	D	0.91399	0.7286	M	0.75777	2.31	0.09310	N	1	B;P;B;P;P	0.51240	0.423;0.943;0.384;0.943;0.943	P;P;P;P;P	0.56960	0.722;0.81;0.587;0.722;0.81	T	0.82127	-0.0611	10	0.54805	T	0.06	.	2.702	0.05152	0.0956:0.1579:0.4254:0.3211	.	15;15;15;15;15	B3W5Y6;A8K847;P29508-2;P29508;Q5K684	.;.;.;SPB3_HUMAN;.	M	15	ENSP00000283752:L15M;ENSP00000329498:L15M	ENSP00000283752:L15M	L	-	1	2	SERPINB3	59479388	0.002000	0.14202	0.001000	0.08648	0.002000	0.02628	-0.201000	0.09464	0.017000	0.15025	-0.538000	0.04264	CTG		0.433	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133791.1	NM_006919		8	153	1	0	3.09899e-07	1	3.82816e-07	8	153				
PGR	5241	broad.mit.edu	37	11	100933406	100933406	+	Missense_Mutation	SNP	C	C	T	rs150584881		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr11:100933406C>T	ENST00000325455.5	-	4	3437	c.1984G>A	c.(1984-1986)Gtt>Att	p.V662I	PGR_ENST00000534013.1_Missense_Mutation_p.V68I|PGR_ENST00000263463.5_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	662					cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.V662I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TCATTTGGAACGCCCACTGGC	0.418													T|||	1	0.000199681	0.0008	0.0	5008	,	,		15128	0.0		0.0	False		,,,				2504	0.0				Pancreas(124;2271 2354 21954 22882)	ENST00000325455.5																			1	Substitution - Missense(1)	p.V662I(1)	large_intestine(1)	NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36						c.(1984-1986)Gtt>Att		progesterone receptor	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	T	ILE/VAL,ILE/VAL	1,4405	826.1+/-416.6	0,1,2202	136.0	118.0	124.0		1984,1492	-0.1	0.5	11	dbSNP_134	124	0,8600		0,0,4300	no	missense,missense	PGR	NM_000926.4,NM_001202474.1	29,29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign,benign	662/934,498/770	100933406	1,13005	2203	4300	6503	SO:0001583	missense	5241				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	g.chr11:100933406C>T	M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.1984G>A	11.37:g.100933406C>T	ENSP00000325120:p.Val662Ile					PGR_ENST00000534013.1_Missense_Mutation_p.V68I|PGR_ENST00000263463.5_Intron	p.V662I	NM_000926.4|NM_001202474.1	NP_000917.3|NP_001189403.1	P06401	PRGR_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	4	3437	-		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)	662					A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Missense_Mutation	SNP	ENST00000325455.5	37	c.1984G>A	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	T	0.534	-0.856734	0.02630	2.27E-4	0.0	ENSG00000082175	ENST00000325455;ENST00000534013	D;D	0.86366	-1.67;-2.11	5.41	-0.113	0.13568	Nuclear hormone receptor, ligand-binding (1);	0.567138	0.17572	N	0.169458	T	0.63034	0.2477	N	0.01168	-0.975	0.80722	D	1	B;B	0.10296	0.001;0.003	B;B	0.04013	0.0;0.001	T	0.45644	-0.9247	10	0.12103	T	0.63	.	11.1076	0.48212	0.0:0.1593:0.6508:0.1899	.	662;43	P06401;A7LQ08	PRGR_HUMAN;.	I	662;68	ENSP00000325120:V662I;ENSP00000436561:V68I	ENSP00000325120:V662I	V	-	1	0	PGR	100438616	0.999000	0.42202	0.496000	0.27539	0.659000	0.38960	0.745000	0.26259	-0.285000	0.09089	-1.411000	0.01122	GTT		0.418	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1			7	98	0	0	0	1	0	7	98				
FIGNL1	63979	broad.mit.edu	37	7	50514797	50514797	+	Frame_Shift_Del	DEL	T	T	-			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr7:50514797delT	ENST00000419119.1	-	2	1742	c.189delA	c.(187-189)gcafs	p.A63fs	FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.A63fs			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	63					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AATATTTCTCTGCATATTTTT	0.373																																						ENST00000419119.1																			0				endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29						c.(187-189)gcfs		fidgetin-like 1							75.0	72.0	73.0					7																	50514797		2203	4300	6503	SO:0001589	frameshift_variant	63979				ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity	g.chr7:50514797delT	AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.189delA	7.37:g.50514797delT	ENSP00000410811:p.Ala63fs					FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000433017.1_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000356889.4_Frame_Shift_Del_p.A63fs|FIGNL1_ENST00000395556.2_Frame_Shift_Del_p.A63fs	p.A63fs			Q6PIW4	FIGL1_HUMAN			2	1742	-	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)	63					D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Frame_Shift_Del	DEL	ENST00000419119.1	37	c.189delA	CCDS5510.1																																																																																				0.373	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762		7	62						7	62	---	---	---	---
AZGP1P1	646282	broad.mit.edu	37	7	99578706	99578706	+	RNA	DEL	A	A	-	rs199656890		TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr7:99578706delA	ENST00000425474.1	+	0	87					NR_036679.1				alpha-2-glycoprotein 1, zinc-binding pseudogene 1																		cttagtttacagtgaaaacaa	0.522																																						ENST00000425474.1																			0																																																			0							g.chr7:99578706delA	AW995302		7q22.1	2010-04-16	2006-11-07		ENSG00000214313	ENSG00000214313			911	pseudogene	pseudogene			"""alpha-2-glycoprotein 1, zinc pseudogene 1"""			8241150, 8307568	Standard	NR_036679		Approved		uc003usi.2		OTTHUMG00000156513		7.37:g.99578706delA								NR_036679.1						0	87	+									RNA	DEL	ENST00000425474.1	37																																																																																						0.522	AZGP1P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000344467.1			2	4						2	4	---	---	---	---
ITGA2B	3674	broad.mit.edu	37	17	42461065	42461065	+	Frame_Shift_Del	DEL	C	C	-			TCGA-KC-A4BR-01A-32D-A257-08	TCGA-KC-A4BR-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5c9ec16d-4591-4e56-8326-9e7883d88483	fee0aa5b-cffd-48d4-bf3c-118855f4ecda	g.chr17:42461065delC	ENST00000262407.5	-	12	1037	c.1006delG	c.(1006-1008)gatfs	p.D336fs	ITGA2B_ENST00000377068.3_Frame_Shift_Del_p.D21fs|ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.D336fs	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	336					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)	extracellular matrix binding (GO:0050840)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Abciximab(DB00054)|Tirofiban(DB00775)	ACCAGCAGATCATGCCTCCTG	0.597																																						ENST00000262407.5																			0				biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						c.(1006-1008)atfs		integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	Tirofiban(DB00775)						18.0	17.0	17.0					17																	42461065		2198	4295	6493	SO:0001589	frameshift_variant	3674				axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	g.chr17:42461065delC		CCDS32665.1	17q21.32	2014-09-17	2006-02-22			ENSG00000005961		"""CD molecules"", ""Integrins"""	6138	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 93"""	607759	"""integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41B)"""	GP2B			Standard	NM_000419		Approved	CD41B, CD41, PPP1R93	uc002igt.1	P08514		ENST00000262407.5:c.1006delG	17.37:g.42461065delC	ENSP00000262407:p.Asp336fs					ITGA2B_ENST00000353281.4_Frame_Shift_Del_p.D336fs|ITGA2B_ENST00000377068.3_Frame_Shift_Del_p.D21fs	p.D336fs	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.191)	12	1037	-		Prostate(33;0.0181)	336					B2RCY8|O95366|Q14443|Q17R67	Frame_Shift_Del	DEL	ENST00000262407.5	37	c.1006delG	CCDS32665.1																																																																																				0.597	ITGA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439823.1			2	4						2	4	---	---	---	---
