#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
C3	718	broad.mit.edu	37	19	6718337	6718337	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:6718337C>G	ENST00000245907.6	-	3	446	c.354G>C	c.(352-354)gaG>gaC	p.E118D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	118					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	GCACCACCTTCTCCACCACTT	0.612																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(352-354)gaG>gaC		complement component 3							105.0	88.0	94.0					19																	6718337		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6718337C>G	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.354G>C	19.37:g.6718337C>G	ENSP00000245907:p.Glu118Asp						p.E118D	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	3	446	-			118					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.354G>C	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777870	0.49786	.	.	ENSG00000125730	ENST00000245907	T	0.37915	1.17	4.91	2.77	0.32553	.	0.795586	0.11579	N	0.549971	T	0.49115	0.1538	M	0.89715	3.055	0.41976	D	0.990779	P	0.37061	0.58	B	0.40134	0.32	T	0.55879	-0.8071	10	0.54805	T	0.06	.	10.027	0.42076	0.0:0.8288:0.0:0.1712	.	118	P01024	CO3_HUMAN	D	118	ENSP00000245907:E118D	ENSP00000245907:E118D	E	-	3	2	C3	6669337	1.000000	0.71417	1.000000	0.80357	0.381000	0.30169	1.212000	0.32394	1.078000	0.41014	0.454000	0.30748	GAG		0.612	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		3	53	0	0	0	1	0	3	53				
C3orf58	205428	broad.mit.edu	37	3	143708448	143708448	+	Missense_Mutation	SNP	G	G	A	rs201605316		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:143708448G>A	ENST00000315691.3	+	3	1593	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000441925.2_Missense_Mutation_p.R115H|C3orf58_ENST00000495414.1_Missense_Mutation_p.R144H	NM_173552.3	NP_775823.1	Q8NDZ4	DIA1_HUMAN	chromosome 3 open reading frame 58	353					cardiac muscle cell proliferation (GO:0060038)|regulation of phosphatidylinositol 3-kinase signaling (GO:0014066)	COPI vesicle coat (GO:0030126)|extracellular space (GO:0005615)|Golgi membrane (GO:0000139)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTGTGCTCGTGCCACTGTG	0.433																																						ENST00000315691.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(1057-1059)cGt>cAt		chromosome 3 open reading frame 58							123.0	117.0	119.0					3																	143708448		2203	4300	6503	SO:0001583	missense	205428					COPI vesicle coat|extracellular region		g.chr3:143708448G>A	AK095161	CCDS3130.1, CCDS46929.1	3q24	2013-12-06			ENSG00000181744	ENSG00000181744			28490	protein-coding gene	gene with protein product	"""deleted in autism 1"", ""hypoxia and Akt induced stem cell factor"""	612200				21283809, 23784961, 24269490	Standard	NM_173552		Approved	MGC33365, DIA1, HASF	uc003evo.3	Q8NDZ4	OTTHUMG00000159380	ENST00000315691.3:c.1058G>A	3.37:g.143708448G>A	ENSP00000320081:p.Arg353His					C3orf58_ENST00000441925.2_Missense_Mutation_p.R115H|C3orf58_ENST00000495414.1_Missense_Mutation_p.R144H|C3orf58_ENST00000493396.1_Intron	p.R353H	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN			3	1593	+			353					B2RCF2|B7Z1W3	Missense_Mutation	SNP	ENST00000315691.3	37	c.1058G>A	CCDS3130.1	.	.	.	.	.	.	.	.	.	.	G	10.85	1.466926	0.26335	.	.	ENSG00000181744	ENST00000315691;ENST00000495414;ENST00000492452;ENST00000441925	T	0.28255	1.62	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.40886	0.1135	L	0.27053	0.805	0.58432	D	0.999996	B;D	0.76494	0.03;0.999	B;D	0.74674	0.009;0.984	T	0.06250	-1.0837	10	0.07644	T	0.81	.	19.6476	0.95789	0.0:0.0:1.0:0.0	.	144;353	B7Z1W3;Q8NDZ4	.;CC058_HUMAN	H	353;144;159;115	ENSP00000320081:R353H	ENSP00000320081:R353H	R	+	2	0	C3orf58	145191138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.653000	0.90120	0.655000	0.94253	CGT		0.433	C3orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355038.1	NM_173552		5	58	0	0	0	1	0	5	58				
SPIN1	10927	broad.mit.edu	37	9	91090141	91090141	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr9:91090141G>C	ENST00000375859.3	+	6	1016	c.738G>C	c.(736-738)aaG>aaC	p.K246N	SPIN1_ENST00000541629.1_Missense_Mutation_p.K246N|SPIN1_ENST00000469017.2_3'UTR	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	246	Tudor-like domain 3.				chromatin modification (GO:0016568)|gamete generation (GO:0007276)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of Wnt signaling pathway (GO:0030177)|rRNA transcription (GO:0009303)|Wnt signaling pathway (GO:0016055)	nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle (GO:0005819)	methylated histone binding (GO:0035064)			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ATTTCATCAAGTTTGATGATG	0.383																																						ENST00000375859.3																			0				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						c.(736-738)aaG>aaC		spindlin 1							91.0	94.0	93.0					9																	91090141		2196	4299	6495	SO:0001583	missense	10927				cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding	g.chr9:91090141G>C	AF317228	CCDS43843.1	9q22.1	2008-02-05	2007-01-03	2007-01-03	ENSG00000106723	ENSG00000106723			11243	protein-coding gene	gene with protein product		609936	"""spindlin"""	SPIN		16098913	Standard	NM_006717		Approved		uc004apy.3	Q9Y657	OTTHUMG00000020168	ENST00000375859.3:c.738G>C	9.37:g.91090141G>C	ENSP00000365019:p.Lys246Asn					SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.K246N	p.K246N	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN			6	1016	+			246					A8K0X6|B3KRQ4|Q7KZJ8|Q9GZT2|Q9H0N7	Missense_Mutation	SNP	ENST00000375859.3	37	c.738G>C	CCDS43843.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.132232	0.77662	.	.	ENSG00000106723	ENST00000375859;ENST00000541629	T;T	0.60548	0.18;0.18	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.75752	0.3892	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77763	-0.2466	10	0.87932	D	0	-10.2499	13.8835	0.63696	0.0721:0.0:0.9279:0.0	.	246	Q9Y657	SPIN1_HUMAN	N	246	ENSP00000365019:K246N;ENSP00000441864:K246N	ENSP00000365019:K246N	K	+	3	2	SPIN1	90279961	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.071000	0.71229	2.885000	0.99019	0.655000	0.94253	AAG		0.383	SPIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052967.1	NM_006717		26	36	0	0	0	1	0	26	36				
ZNF536	9745	broad.mit.edu	37	19	30935438	30935438	+	Silent	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:30935438C>T	ENST00000355537.3	+	2	1116	c.969C>T	c.(967-969)caC>caT	p.H323H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	323					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAAGGCACACATCACGGCCG	0.657																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(967-969)caC>caT		zinc finger protein 536							90.0	101.0	97.0					19																	30935438		2203	4300	6503	SO:0001819	synonymous_variant	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30935438C>T		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.969C>T	19.37:g.30935438C>T							p.H323H	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			2	1116	+	Esophageal squamous(110;0.0834)		323					A2RU18	Silent	SNP	ENST00000355537.3	37	c.969C>T	CCDS32984.1																																																																																				0.657	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		6	169	0	0	0	1	0	6	169				
ZDHHC19	131540	broad.mit.edu	37	3	195935376	195935376	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:195935376C>T	ENST00000296326.3	-	4	543	c.464G>A	c.(463-465)cGc>cAc	p.R155H	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	155						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CATGAAGAAGCGGAAGTTGCG	0.597																																						ENST00000296326.3																			0				breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14						c.(463-465)cGc>cAc		zinc finger, DHHC-type containing 19							124.0	143.0	137.0					3																	195935376		2191	4279	6470	SO:0001583	missense	131540					integral to membrane	acyltransferase activity|zinc ion binding	g.chr3:195935376C>T	BC022078	CCDS43190.1	3q29	2008-05-02			ENSG00000163958	ENSG00000163958		"""Zinc fingers, DHHC-type"""	20713	protein-coding gene	gene with protein product							Standard	XR_246038		Approved	MGC33345	uc003fwc.3	Q8WVZ1	OTTHUMG00000133642	ENST00000296326.3:c.464G>A	3.37:g.195935376C>T	ENSP00000296326:p.Arg155His					ZDHHC19_ENST00000488508.1_5'UTR	p.R155H	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)	4	543	-	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		155					A8MSY6|B3KVI1	Missense_Mutation	SNP	ENST00000296326.3	37	c.464G>A	CCDS43190.1	.	.	.	.	.	.	.	.	.	.	C	35	5.489090	0.96323	.	.	ENSG00000163958	ENST00000296326	T	0.27402	1.67	5.61	5.61	0.85477	Zinc finger, DHHC-type, palmitoyltransferase (2);	0.000000	0.56097	D	0.000027	T	0.57460	0.2055	M	0.78049	2.395	0.52501	D	0.999958	D	0.89917	1.0	D	0.91635	0.999	T	0.60919	-0.7167	10	0.87932	D	0	-36.9256	15.126	0.72483	0.0:1.0:0.0:0.0	.	155	Q8WVZ1	ZDH19_HUMAN	H	155	ENSP00000296326:R155H	ENSP00000296326:R155H	R	-	2	0	ZDHHC19	197419773	1.000000	0.71417	0.997000	0.53966	0.965000	0.64279	4.269000	0.58890	2.638000	0.89438	0.561000	0.74099	CGC		0.597	ZDHHC19-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341533.1	NM_144637		20	27	0	0	0	1	0	20	27				
BAGE2	85319	broad.mit.edu	37	21	11098732	11098732	+	RNA	SNP	C	C	T	rs73891536	byFrequency	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr21:11098732C>T	ENST00000470054.1	-	0	193							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ctgctccggccgccatcttac	0.632																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098732C>T	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098732C>T												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	193	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.632	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		6	183	0	0	0	1	0	6	183				
CACNA2D2	9254	broad.mit.edu	37	3	50405102	50405102	+	Silent	SNP	G	G	A	rs375235408		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:50405102G>A	ENST00000479441.1	-	27	2288	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	CACNA2D2_ENST00000395083.1_Silent_p.D756D|XXcos-LUCA11.4_ENST00000607121.1_RNA|CACNA2D2_ENST00000424201.2_Silent_p.D756D|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000435965.1_Silent_p.D763D|CACNA2D2_ENST00000266039.3_Silent_p.D756D|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D|CACNA2D2_ENST00000423994.2_Silent_p.D763D|XXcos-LUCA11.4_ENST00000607583.1_RNA|CACNA2D2_ENST00000360963.3_Silent_p.D687D|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.5_ENST00000606589.1_Intron			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	763					energy reserve metabolic process (GO:0006112)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|positive regulation of organ growth (GO:0046622)|regulation of insulin secretion (GO:0050796)|regulation of multicellular organism growth (GO:0040014)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Amiodarone(DB01118)|Bepridil(DB01244)|Felodipine(DB01023)|Gabapentin(DB00996)|Isradipine(DB00270)|Nitrendipine(DB01054)|Spironolactone(DB00421)	TGATGCCACCGTCTGTGGCAG	0.642																																						ENST00000435965.1																			0				breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31						c.(2287-2289)gaC>gaT		calcium channel, voltage-dependent, alpha 2/delta subunit 2	Gabapentin(DB00996)	G	,,	1,4405	2.1+/-5.4	0,1,2202	79.0	77.0	78.0		2268,2289,2268	-10.8	0.1	3		78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	CACNA2D2	NM_001005505.1,NM_001174051.1,NM_006030.2	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	756/1146,763/1151,756/1144	50405102	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9254				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr3:50405102G>A	AF040709	CCDS33763.1, CCDS54588.1, CCDS63647.1	3p21.3	2004-02-27			ENSG00000007402	ENSG00000007402		"""Calcium channel subunits"""	1400	protein-coding gene	gene with protein product	"""gene 26"""	607082					Standard	XM_005265581		Approved	KIAA0558	uc003daq.3	Q9NY47	OTTHUMG00000156887	ENST00000479441.1:c.2289C>T	3.37:g.50405102G>A						XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D|CACNA2D2_ENST00000424201.2_Silent_p.D756D|CACNA2D2_ENST00000423994.2_Silent_p.D763D|CACNA2D2_ENST00000395083.1_Silent_p.D756D|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000266039.3_Silent_p.D756D|CACNA2D2_ENST00000479441.1_Silent_p.D763D|CACNA2D2_ENST00000360963.3_Silent_p.D687D	p.D763D			Q9NY47	CA2D2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	27	2462	-			763					A7MD15|Q9NY48|Q9UEW0|Q9Y268	Silent	SNP	ENST00000479441.1	37	c.2289C>T	CCDS54588.1																																																																																				0.642	CACNA2D2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346457.1	NM_006030		13	11	0	0	0	1	0	13	11				
PHF20	51230	broad.mit.edu	37	20	34451082	34451082	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr20:34451082C>T	ENST00000374012.3	+	6	697	c.568C>T	c.(568-570)Cga>Tga	p.R190*	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Nonsense_Mutation_p.R190*			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	190	Lys-rich.				chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GACAGAAAAGCGACCCAAGCA	0.383																																						ENST00000374012.3																			0				breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(568-570)Cga>Tga		PHD finger protein 20							110.0	107.0	108.0					20																	34451082		2203	4300	6503	SO:0001587	stop_gained	51230				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding	g.chr20:34451082C>T	AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.568C>T	20.37:g.34451082C>T	ENSP00000363124:p.Arg190*					PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Nonsense_Mutation_p.R190*	p.R190*			Q9BVI0	PHF20_HUMAN			6	697	+	Breast(12;0.00631)|all_lung(11;0.0145)		190			Lys-rich.		A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Nonsense_Mutation	SNP	ENST00000374012.3	37	c.568C>T	CCDS13268.1	.	.	.	.	.	.	.	.	.	.	C	19.86	3.905127	0.72868	.	.	ENSG00000025293	ENST00000374012;ENST00000439301;ENST00000339089;ENST00000374000;ENST00000449988	.	.	.	5.5	1.8	0.24995	.	0.000000	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	.	15.0216	0.71635	0.5985:0.4015:0.0:0.0	.	.	.	.	X	190;190;190;190;83	.	ENSP00000341900:R190X	R	+	1	2	PHF20	33914496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.713000	0.25794	0.667000	0.31107	0.561000	0.74099	CGA		0.383	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078949.2	NM_016436		14	73	0	0	0	1	0	14	73				
PTBP1	5725	broad.mit.edu	37	19	804864	804864	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:804864C>G	ENST00000349038.4	+	7	715	c.642C>G	c.(640-642)atC>atG	p.I214M	PTBP1_ENST00000350092.4_Intron|MIR4745_ENST00000577608.1_RNA|PTBP1_ENST00000394601.4_Missense_Mutation_p.I214M|PTBP1_ENST00000356948.6_Missense_Mutation_p.I214M	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	214	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGAAGATCATCACCTTCACCA	0.652																																						ENST00000356948.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19						c.(640-642)atC>atG		polypyrimidine tract binding protein 1							106.0	95.0	98.0					19																	804864		2203	4300	6503	SO:0001583	missense	5725				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding	g.chr19:804864C>G	X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.642C>G	19.37:g.804864C>G	ENSP00000014112:p.Ile214Met					PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.I214M|PTBP1_ENST00000349038.4_Missense_Mutation_p.I214M	p.I214M	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	7	1065	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	214			RRM 2.		Q9BUQ0	Missense_Mutation	SNP	ENST00000349038.4	37	c.642C>G	CCDS32859.1	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610850	0.46527	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038	T;T;T	0.50277	0.77;0.75;1.03	5.22	0.393	0.16294	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.050167	0.85682	D	0.000000	T	0.58750	0.2144	M	0.68593	2.085	0.80722	D	1	D;D;D	0.67145	0.992;0.994;0.996	D;D;D	0.77557	0.99;0.977;0.99	T	0.58601	-0.7608	10	0.87932	D	0	-60.1549	6.2028	0.20585	0.1366:0.5589:0.0:0.3045	.	214;214;214	P26599;P26599-2;Q9BUQ0	PTBP1_HUMAN;.;.	M	214	ENSP00000349428:I214M;ENSP00000408096:I214M;ENSP00000014112:I214M	ENSP00000014112:I214M	I	+	3	3	PTBP1	755864	0.969000	0.33509	0.880000	0.34516	0.540000	0.34992	0.102000	0.15272	0.597000	0.29811	0.655000	0.94253	ATC		0.652	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457605.1			7	82	0	0	0	1	0	7	82				
LRTM2	654429	broad.mit.edu	37	12	1940299	1940299	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr12:1940299C>T	ENST00000543818.1	+	4	1108	c.266C>T	c.(265-267)gCc>gTc	p.A89V	CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000382722.5_Intron|CACNA2D4_ENST00000586184.1_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.A89V|LRTM2_ENST00000535041.1_Missense_Mutation_p.A89V|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	89						integral component of membrane (GO:0016021)				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGGGCTTTCGCCAACCTCTCC	0.622																																						ENST00000543818.1																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20						c.(265-267)gCc>gTc		leucine-rich repeats and transmembrane domains 2							57.0	65.0	62.0					12																	1940299		2203	4300	6503	SO:0001583	missense	0					integral to membrane		g.chr12:1940299C>T	AK095610	CCDS31726.1	12p13.33	2008-02-05				ENSG00000166159			32443	protein-coding gene	gene with protein product							Standard	NM_001039029		Approved		uc010sdx.1	Q8N967		ENST00000543818.1:c.266C>T	12.37:g.1940299C>T	ENSP00000446278:p.Ala89Val					CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A89V|LRTM2_ENST00000299194.1_Missense_Mutation_p.A89V|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|CACNA2D4_ENST00000587995.1_Intron|CACNA2D4_ENST00000585732.1_Intron	p.A89V	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.000834)		4	1108	+	Ovarian(42;0.107)		89					A7E2U6	Missense_Mutation	SNP	ENST00000543818.1	37	c.266C>T	CCDS31726.1	.	.	.	.	.	.	.	.	.	.	C	16.73	3.204286	0.58234	.	.	ENSG00000166159	ENST00000543818;ENST00000299194;ENST00000535041;ENST00000546167;ENST00000543694	T;T;T;D;D	0.83837	0.63;0.63;0.63;-1.77;-1.77	5.04	5.04	0.67666	.	0.205273	0.51477	D	0.000087	T	0.78629	0.4313	L	0.41573	1.285	0.47778	D	0.999513	B	0.24092	0.097	B	0.23150	0.044	T	0.74677	-0.3585	10	0.39692	T	0.17	.	18.3994	0.90511	0.0:1.0:0.0:0.0	.	89	Q8N967	LRTM2_HUMAN	V	89	ENSP00000446278:A89V;ENSP00000299194:A89V;ENSP00000444737:A89V;ENSP00000438678:A89V;ENSP00000444104:A89V	ENSP00000299194:A89V	A	+	2	0	LRTM2	1810560	0.998000	0.40836	0.992000	0.48379	0.990000	0.78478	3.812000	0.55628	2.345000	0.79718	0.561000	0.74099	GCC		0.622	LRTM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398055.1			4	110	0	0	0	1	0	4	110				
ANKRD36	375248	broad.mit.edu	37	2	97853077	97853077	+	Silent	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:97853077C>T	ENST00000461153.2	+	32	2326	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D	ANKRD36_ENST00000420699.2_Silent_p.D694D			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	694										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTACAACTGACGAGGAAGACT	0.303																																						ENST00000420699.2																			0				endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						c.(2080-2082)gaC>gaT		ankyrin repeat domain 36							34.0	28.0	30.0					2																	97853077		692	1590	2282	SO:0001819	synonymous_variant	375248							g.chr2:97853077C>T	BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.2082C>T	2.37:g.97853077C>T						ANKRD36_ENST00000461153.2_Silent_p.D694D	p.D694D	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN			32	2326	+			694					B4E3I8|Q6UX02|Q86X62|Q9HCD1	Silent	SNP	ENST00000461153.2	37	c.2082C>T	CCDS54379.1																																																																																				0.303	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339154.5			5	10	0	0	0	1	0	5	10				
TTC13	79573	broad.mit.edu	37	1	231079620	231079620	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:231079620G>C	ENST00000366661.4	-	6	611	c.604C>G	c.(604-606)Ctg>Gtg	p.L202V	TTC13_ENST00000366662.4_Intron|TTC13_ENST00000414259.1_Intron	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	202										central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AGTTCGAACAGAGCAAGCTCA	0.413																																						ENST00000366661.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39						c.(604-606)Ctg>Gtg		tetratricopeptide repeat domain 13							121.0	118.0	119.0					1																	231079620		2203	4300	6503	SO:0001583	missense	79573						binding	g.chr1:231079620G>C		CCDS1588.1, CCDS44332.1, CCDS44332.2	1q42.2	2013-01-10			ENSG00000143643	ENSG00000143643		"""Tetratricopeptide (TTC) repeat domain containing"""	26204	protein-coding gene	gene with protein product							Standard	NM_024525		Approved	FLJ22584	uc001huf.4	Q8NBP0	OTTHUMG00000037788	ENST00000366661.4:c.604C>G	1.37:g.231079620G>C	ENSP00000355621:p.Leu202Val					TTC13_ENST00000366662.4_Intron|TTC13_ENST00000414259.1_Intron	p.L202V	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN		COAD - Colon adenocarcinoma(196;0.243)	6	611	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)	202					B1AQI1|B1AQI2|Q8IVP8|Q8NBI0|Q8ND20	Missense_Mutation	SNP	ENST00000366661.4	37	c.604C>G	CCDS1588.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.587267	0.46110	.	.	ENSG00000143643	ENST00000366661	T	0.42513	0.97	5.61	1.72	0.24424	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.64402	D	0.000006	T	0.53481	0.1799	L	0.52823	1.66	0.80722	D	1	D	0.69078	0.997	D	0.72625	0.978	T	0.50048	-0.8873	10	0.49607	T	0.09	-12.6155	9.5198	0.39129	0.4434:0.0:0.5566:0.0	.	202	Q8NBP0	TTC13_HUMAN	V	202	ENSP00000355621:L202V	ENSP00000355621:L202V	L	-	1	2	TTC13	229146243	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.132000	0.31418	0.512000	0.28257	0.591000	0.81541	CTG		0.413	TTC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092229.2	NM_024525		7	77	0	0	0	1	0	7	77				
METAP1D	254042	broad.mit.edu	37	2	172945092	172945092	+	Silent	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:172945092G>A	ENST00000315796.4	+	10	1353	c.966G>A	c.(964-966)tcG>tcA	p.S322S	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	322					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						TGATCACGTCGAGGGGCGCGC	0.612																																						ENST00000315796.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						c.(964-966)tcG>tcA		methionyl aminopeptidase type 1D (mitochondrial)							94.0	97.0	96.0					2																	172945092		2203	4300	6503	SO:0001819	synonymous_variant	254042				N-terminal protein amino acid modification|peptidyl-methionine modification|proteolysis	mitochondrion	aminopeptidase activity|metal ion binding|metalloexopeptidase activity	g.chr2:172945092G>A	AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.966G>A	2.37:g.172945092G>A						METAP1D_ENST00000488581.1_3'UTR	p.S322S	NM_199227.1	NP_954697.1	Q6UB28	AMP1D_HUMAN			10	1353	+			322					Q1WNX3	Silent	SNP	ENST00000315796.4	37	c.966G>A	CCDS2246.1																																																																																				0.612	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255378.2	NM_199227		10	110	0	0	0	1	0	10	110				
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		679	Substitution - Missense(678)|Complex - compound substitution(1)	p.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(1)	haematopoietic_and_lymphoid_tissue(280)|central_nervous_system(181)|bone(177)|biliary_tract(21)|soft_tissue(12)|large_intestine(2)|skin(2)|autonomic_ganglia(1)|endometrium(1)|NS(1)|prostate(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)Cgt>Ggt		isocitrate dehydrogenase 1 (NADP+), soluble							81.0	74.0	76.0					2																	209113113		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113113G>C		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.394C>G	2.37:g.209113113G>C	ENSP00000390265:p.Arg132Gly					IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	p.R132G			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	775	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.394C>G	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286370	0.80803	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	5.57	0.84162	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.96636	0.8902	H	0.99379	4.54	0.80722	D	1	D	0.57899	0.981	P	0.62813	0.907	D	0.98312	1.0524	10	0.87932	D	0	-20.0399	19.5341	0.95242	0.0:0.0:1.0:0.0	.	132	O75874	IDHC_HUMAN	G	132	ENSP00000260985:R132G;ENSP00000410513:R132G;ENSP00000390265:R132G;ENSP00000391075:R132G	ENSP00000260985:R132G	R	-	1	0	IDH1	208821358	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.074000	0.76791	2.616000	0.88540	0.555000	0.69702	CGT		0.398	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			18	21	0	0	0	1	0	18	21				
CPVL	54504	broad.mit.edu	37	7	29160567	29160567	+	Silent	SNP	T	T	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:29160567T>C	ENST00000409850.1	-	6	757	c.111A>G	c.(109-111)ggA>ggG	p.G37G	CPVL_ENST00000396276.3_Silent_p.G37G|CPVL_ENST00000265394.5_Silent_p.G37G|CPVL_ENST00000488891.2_5'UTR			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	37						extracellular vesicular exosome (GO:0070062)	serine-type carboxypeptidase activity (GO:0004185)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GTCCTGAGTCTCCCTTAGGTG	0.463																																						ENST00000409850.1																			0				NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						c.(109-111)ggA>ggG		carboxypeptidase, vitellogenic-like							109.0	100.0	103.0					7																	29160567		2203	4300	6503	SO:0001819	synonymous_variant	54504				proteolysis		protein binding|serine-type carboxypeptidase activity	g.chr7:29160567T>C	AF106704	CCDS5419.1	7p15.1	2012-02-10			ENSG00000106066	ENSG00000106066			14399	protein-coding gene	gene with protein product	"""carboxypeptidase WUG"", ""vitellogenic carboxypeptidase-like protein"", ""CP-Mac carboxypeptidase"""	609780				11401439	Standard	XM_005249786		Approved		uc003szw.3	Q9H3G5	OTTHUMG00000023669	ENST00000409850.1:c.111A>G	7.37:g.29160567T>C						CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Silent_p.G37G|CPVL_ENST00000396276.3_Silent_p.G37G	p.G37G			Q9H3G5	CPVL_HUMAN			6	757	-			37					A4D1A4|Q6UX20|Q8NBL7|Q96AR7|Q9HB41	Silent	SNP	ENST00000409850.1	37	c.111A>G	CCDS5419.1																																																																																				0.463	CPVL-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328305.1	NM_019029		4	68	0	0	0	1	0	4	68				
GLIPR1L1	256710	broad.mit.edu	37	12	75763881	75763881	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr12:75763881G>C	ENST00000378695.4	+	6	744	c.654G>C	c.(652-654)aaG>aaC	p.K218N	CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000312442.2_Missense_Mutation_p.K209N|GLIPR1L1_ENST00000548623.1_3'UTR			Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	218					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|extracellular region (GO:0005576)|sperm connecting piece (GO:0097224)				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CATTTCTGAAGCCAACGGGGA	0.318																																						ENST00000312442.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						c.(625-627)aaG>aaC		GLI pathogenesis-related 1 like 1							75.0	80.0	78.0					12																	75763881		2203	4300	6503	SO:0001583	missense	256710					extracellular region		g.chr12:75763881G>C	BC014603	CCDS9009.1	12q21.1	2014-06-03				ENSG00000173401			28392	protein-coding gene	gene with protein product		610395				12477932	Standard	NM_152779		Approved	MGC26856	uc001sxn.3	Q6UWM5	OTTHUMG00000169755	ENST00000378695.4:c.654G>C	12.37:g.75763881G>C	ENSP00000367967:p.Lys218Asn					GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.K218N|CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000548623.1_3'UTR	p.K209N	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN			5	673	+			218					Q96L06	Missense_Mutation	SNP	ENST00000378695.4	37	c.627G>C		.	.	.	.	.	.	.	.	.	.	G	0.021	-1.431592	0.01108	.	.	ENSG00000173401	ENST00000378695;ENST00000312442	T;T	0.08370	3.1;3.11	3.63	-7.27	0.01461	.	1.016090	0.07928	N	0.977016	T	0.03136	0.0092	N	0.24115	0.695	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.46233	-0.9206	10	0.06891	T	0.86	.	1.1816	0.01846	0.3212:0.0969:0.1544:0.4275	.	218;209	Q6UWM5;Q6UWM5-2	GPRL1_HUMAN;.	N	218;209	ENSP00000367967:K218N;ENSP00000310770:K209N	ENSP00000310770:K209N	K	+	3	2	GLIPR1L1	74050148	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.894000	0.04123	-1.692000	0.01428	-0.320000	0.08662	AAG		0.318	GLIPR1L1-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000405714.1	NM_152779		18	33	0	0	0	1	0	18	33				
MGAM	8972	broad.mit.edu	37	7	141795497	141795497	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:141795497C>T	ENST00000549489.2	+	41	4998	c.4903C>T	c.(4903-4905)Cgg>Tgg	p.R1635W	MGAM_ENST00000475668.2_Missense_Mutation_p.R2531W	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.468																																						ENST00000475668.2																			0				cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13						c.(7591-7593)Cgg>Tgg		maltase-glucoamylase (alpha-glucosidase)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)						194.0	178.0	184.0					7																	141795497		1977	4152	6129	SO:0001583	missense	8972				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	g.chr7:141795497C>T	AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4903C>T	7.37:g.141795497C>T	ENSP00000447378:p.Arg1635Trp					MGAM_ENST00000549489.2_Missense_Mutation_p.R1635W	p.R2531W			O43451	MGA_HUMAN			64	7645	+	Melanoma(164;0.0272)		1635					Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000549489.2	37	c.7591C>T	CCDS47727.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463792	0.43736	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.95001	-3.58	5.57	2.69	0.31865	.	.	.	.	.	D	0.98592	0.9529	H	0.99634	4.67	0.32045	N	0.597744	D	0.89917	1.0	D	0.97110	1.0	D	0.97601	1.0123	9	0.87932	D	0	.	14.247	0.65995	0.3859:0.6141:0.0:0.0	.	1635	O43451	MGA_HUMAN	W	1635;2532	ENSP00000447378:R1635W	ENSP00000373973:R1635W	R	+	1	2	MGAM	141441966	0.998000	0.40836	0.981000	0.43875	0.153000	0.21895	3.886000	0.56190	0.347000	0.23924	-0.169000	0.13324	CGG		0.468	MGAM-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000351244.3			5	189	0	0	0	1	0	5	189				
C3	718	broad.mit.edu	37	19	6702552	6702552	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:6702552C>T	ENST00000245907.6	-	18	2376	c.2284G>A	c.(2284-2286)Gtt>Att	p.V762I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	762					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	CTTCGGGAAACGATGTTCTCT	0.532																																						ENST00000245907.6																			0				breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72						c.(2284-2286)Gtt>Att		complement component 3							138.0	124.0	128.0					19																	6702552		2203	4300	6503	SO:0001583	missense	718				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	g.chr19:6702552C>T	J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.2284G>A	19.37:g.6702552C>T	ENSP00000245907:p.Val762Ile						p.V762I	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN		GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	18	2376	-			762					A7E236	Missense_Mutation	SNP	ENST00000245907.6	37	c.2284G>A	CCDS32883.1	.	.	.	.	.	.	.	.	.	.	C	0.273	-0.991706	0.02162	.	.	ENSG00000125730	ENST00000245907	T	0.32753	1.44	5.58	-3.8	0.04307	.	0.672387	0.15225	N	0.273716	T	0.14098	0.0341	N	0.04805	-0.155	0.09310	N	0.999998	B	0.02656	0.0	B	0.01281	0.0	T	0.15178	-1.0446	10	0.17369	T	0.5	.	17.5258	0.87800	0.0:0.771:0.0:0.229	.	762	P01024	CO3_HUMAN	I	762	ENSP00000245907:V762I	ENSP00000245907:V762I	V	-	1	0	C3	6653552	0.000000	0.05858	0.206000	0.23566	0.035000	0.12851	-1.394000	0.02518	-0.932000	0.03742	-0.345000	0.07892	GTT		0.532	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317636.2	NM_000064		4	84	0	0	0	1	0	4	84				
NBPF10	100132406	broad.mit.edu	37	1	145367767	145367767	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:145367767G>A	ENST00000342960.5	+	83	10398	c.10363G>A	c.(10363-10365)Gaa>Aaa	p.E3455K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	755						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.E3455K(5)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		atcaaagaaggaaagaagaag	0.423																																						ENST00000342960.5																			5	Substitution - Missense(5)	p.E3455K(5)	skin(2)|urinary_tract(1)|kidney(1)|central_nervous_system(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10363-10365)Gaa>Aaa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145367767G>A	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10363G>A	1.37:g.145367767G>A	ENSP00000345684:p.Glu3455Lys					NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.E3455K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10398	+	all_hematologic(923;0.032)		3455					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000342960.5	37	c.10363G>A	CCDS53355.1	.	.	.	.	.	.	.	.	.	.	.	0.008	-1.929795	0.00488	.	.	ENSG00000163386	ENST00000369339;ENST00000342960	T	0.02552	4.25	.	.	.	.	.	.	.	.	T	0.00784	0.0026	L	0.51422	1.61	0.09310	N	1	.	.	.	.	.	.	T	0.46162	-0.9211	4	0.02654	T	1	.	.	.	.	.	.	.	.	K	575;3455	ENSP00000345684:E3455K	ENSP00000345684:E3455K	E	+	1	0	NBPF10	144079124	0.039000	0.19947	.	.	.	.	0.000000	0.12993	.	.	.	.	GAA		0.423	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		4	35	0	0	0	1	0	4	35				
GABRG1	2565	broad.mit.edu	37	4	46053576	46053576	+	Silent	SNP	C	C	T	rs143206194	byFrequency	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr4:46053576C>T	ENST00000295452.4	-	8	1163	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	332					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGAGATCCATCGCAGTCACAT	0.378													C|||	4	0.000798722	0.0	0.0	5008	,	,		14682	0.0		0.004	False		,,,				2504	0.0					ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(994-996)gcG>gcA		gamma-aminobutyric acid (GABA) A receptor, gamma 1		C		4,4402	8.1+/-20.4	0,4,2199	109.0	99.0	102.0		996	-2.5	1.0	4	dbSNP_134	102	17,8583	11.9+/-42.8	0,17,4283	no	coding-synonymous	GABRG1	NM_173536.3		0,21,6482	TT,TC,CC		0.1977,0.0908,0.1615		332/466	46053576	21,12985	2203	4300	6503	SO:0001819	synonymous_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46053576C>T	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.996G>A	4.37:g.46053576C>T							p.A332A	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	8	1163	-			332					Q5H9T8	Silent	SNP	ENST00000295452.4	37	c.996G>A	CCDS3470.1																																																																																				0.378	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		3	45	0	0	0	1	0	3	45				
KIAA0895L	653319	broad.mit.edu	37	16	67210813	67210813	+	Silent	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr16:67210813G>A	ENST00000290881.7	-	8	2243	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563902.1_Silent_p.H439H|KIAA0895L_ENST00000563831.2_5'UTR			Q68EN5	K895L_HUMAN	KIAA0895-like	439										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCTGCATGAAGTGGGGCACCC	0.632																																						ENST00000290881.7																			0				breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						c.(1315-1317)caC>caT		KIAA0895-like							80.0	88.0	85.0					16																	67210813		2105	4233	6338	SO:0001819	synonymous_variant	653319							g.chr16:67210813G>A	AK092303	CCDS42177.1	16q22.1	2008-11-27				ENSG00000196123			34408	protein-coding gene	gene with protein product							Standard	NM_001040715		Approved	LOC653319	uc002ert.3	Q68EN5		ENST00000290881.7:c.1317C>T	16.37:g.67210813G>A						KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563831.2_5'UTR|KIAA0895L_ENST00000563902.1_Silent_p.H439H|KIAA0895L_ENST00000561679.1_Silent_p.H284H	p.H439H			Q68EN5	K895L_HUMAN			8	2243	-			439					A2VCS8|Q8N3H9|Q8NAQ5|Q96IE5	Silent	SNP	ENST00000290881.7	37	c.1317C>T	CCDS42177.1																																																																																				0.632	KIAA0895L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421193.4	NM_001040715		8	96	0	0	0	1	0	8	96				
LLGL2	3993	broad.mit.edu	37	17	73567853	73567853	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr17:73567853G>A	ENST00000392550.3	+	18	2399	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q	LLGL2_ENST00000167462.5_Missense_Mutation_p.R761Q|LLGL2_ENST00000577200.1_Missense_Mutation_p.R761Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	761					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAGCCTGTGCGGGCAGAGCAG	0.697																																						ENST00000392550.3																			0				NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(2281-2283)cGg>cAg		lethal giant larvae homolog 2 (Drosophila)							28.0	30.0	29.0					17																	73567853		2202	4298	6500	SO:0001583	missense	3993				cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding	g.chr17:73567853G>A	X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.2282G>A	17.37:g.73567853G>A	ENSP00000376333:p.Arg761Gln					LLGL2_ENST00000577200.1_Missense_Mutation_p.R761Q|LLGL2_ENST00000167462.5_Missense_Mutation_p.R761Q	p.R761Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)		18	2399	+	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		761					Q14521|Q9BR62	Missense_Mutation	SNP	ENST00000392550.3	37	c.2282G>A	CCDS32733.1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.926284	0.52759	.	.	ENSG00000073350	ENST00000167462;ENST00000392550;ENST00000545227	T;T	0.04758	3.56;3.68	5.4	5.4	0.78164	.	0.764751	0.12440	N	0.468774	T	0.05686	0.0149	L	0.34521	1.04	0.30773	N	0.742872	P;P;P;B;B	0.45634	0.485;0.785;0.863;0.305;0.342	B;B;B;B;B	0.41666	0.09;0.199;0.363;0.09;0.042	T	0.19943	-1.0290	10	0.15499	T	0.54	-3.2477	14.7369	0.69422	0.0:0.1445:0.8555:0.0	.	388;750;750;761;761	B4DVR9;B3KX47;G3V1I9;Q6P1M3-2;Q6P1M3	.;.;.;.;L2GL2_HUMAN	Q	761;761;750	ENSP00000167462:R761Q;ENSP00000376333:R761Q	ENSP00000167462:R761Q	R	+	2	0	LLGL2	71079448	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.125000	0.50469	2.544000	0.85801	0.549000	0.68633	CGG		0.697	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447633.1	NM_004524		9	17	0	0	0	1	0	9	17				
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	RNA	SNP	G	G	T	rs201105823		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr15:102516424G>T	ENST00000557932.1	+	0	1372				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647																																						ENST00000557932.1																			4	Substitution - coding silent(4)	p.P449P(4)	endometrium(3)|kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102516424G>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516424G>T														0	1372	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.647	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	28	1	0	0.115264	1	0.118557	3	28				
SEMA3C	10512	broad.mit.edu	37	7	80457916	80457916	+	Silent	SNP	A	A	G			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:80457916A>G	ENST00000265361.3	-	3	810	c.249T>C	c.(247-249)agT>agC	p.S83S	SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000419255.2_Silent_p.S83S|SEMA3C_ENST00000544525.1_Silent_p.S101S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	83	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGCTTCTTGACTTATATTGT	0.313																																						ENST00000265361.3																			0				NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						c.(247-249)agT>agC		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C							102.0	105.0	104.0					7																	80457916		2203	4300	6503	SO:0001819	synonymous_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80457916A>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.249T>C	7.37:g.80457916A>G						SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000419255.2_Silent_p.S83S|SEMA3C_ENST00000544525.1_Silent_p.S101S	p.S83S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN			3	810	-			83			Sema.		B4DRL8	Silent	SNP	ENST00000265361.3	37	c.249T>C	CCDS5596.1																																																																																				0.313	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379		25	27	0	0	0	1	0	25	27				
PREX2	80243	broad.mit.edu	37	8	69009322	69009322	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr8:69009322C>A	ENST00000288368.4	+	22	2716	c.2439C>A	c.(2437-2439)gaC>gaA	p.D813E	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	813					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGACAGTGGACAATGTCCACC	0.438																																						ENST00000288368.4																			0				NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						c.(2437-2439)gaC>gaA		phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2							189.0	163.0	172.0					8																	69009322		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:69009322C>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2439C>A	8.37:g.69009322C>A	ENSP00000288368:p.Asp813Glu					PREX2_ENST00000529398.1_3'UTR	p.D813E	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN			22	2716	+			813					B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.2439C>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	C	19.68	3.872908	0.72180	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.43688	0.94	6.16	1.79	0.24919	.	0.000000	0.85682	D	0.000000	T	0.46737	0.1408	L	0.50333	1.59	0.50171	D	0.999859	P;P;P	0.50617	0.839;0.937;0.72	P;P;P	0.53006	0.715;0.62;0.574	T	0.41945	-0.9480	10	0.52906	T	0.07	.	11.6603	0.51343	0.0:0.61:0.0:0.39	.	813;813;813	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	E	813	ENSP00000288368:D813E	ENSP00000288368:D813E	D	+	3	2	PREX2	69171876	0.984000	0.35163	0.997000	0.53966	0.994000	0.84299	0.213000	0.17521	0.343000	0.23821	0.650000	0.86243	GAC		0.438	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		5	59	1	0	1.23904e-05	1	1.39392e-05	5	59				
OR8H3	390152	broad.mit.edu	37	11	55889935	55889935	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr11:55889935T>A	ENST00000313472.3	+	1	87	c.87T>A	c.(85-87)ttT>ttA	p.F29L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGCTCTGTTTATGCTATTTC	0.453																																						ENST00000313472.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42						c.(85-87)ttT>ttA		olfactory receptor, family 8, subfamily H, member 3							220.0	212.0	215.0					11																	55889935		2201	4296	6497	SO:0001583	missense	390152				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55889935T>A	AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.87T>A	11.37:g.55889935T>A	ENSP00000323928:p.Phe29Leu						p.F29L	NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN			1	87	+	Esophageal squamous(21;0.00693)		29					Q6IFB7	Missense_Mutation	SNP	ENST00000313472.3	37	c.87T>A	CCDS31519.1	.	.	.	.	.	.	.	.	.	.	T	7.602	0.672928	0.14776	.	.	ENSG00000181761	ENST00000313472	T	0.04454	3.62	3.43	-2.95	0.05564	.	0.408289	0.21489	N	0.073718	T	0.06826	0.0174	M	0.76938	2.355	0.09310	N	1	B	0.28552	0.215	B	0.32465	0.146	T	0.21552	-1.0242	10	0.59425	D	0.04	.	5.8452	0.18661	0.1266:0.3703:0.0:0.5031	.	29	Q8N146	OR8H3_HUMAN	L	29	ENSP00000323928:F29L	ENSP00000323928:F29L	F	+	3	2	OR8H3	55646511	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-1.104000	0.03326	-0.412000	0.07519	0.136000	0.15936	TTT		0.453	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391541.1	NM_001005201		61	110	0	0	0	1	0	61	110				
VWA5A	4013	broad.mit.edu	37	11	123988900	123988900	+	Missense_Mutation	SNP	G	G	A	rs550858587	byFrequency	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr11:123988900G>A	ENST00000456829.2	+	5	502	c.251G>A	c.(250-252)cGc>cAc	p.R84H	VWA5A_ENST00000360334.4_Missense_Mutation_p.R84H|VWA5A_ENST00000392744.4_Missense_Mutation_p.R100H|VWA5A_ENST00000449321.1_Missense_Mutation_p.R84H|VWA5A_ENST00000361352.5_Missense_Mutation_p.R84H|VWA5A_ENST00000392748.1_Missense_Mutation_p.R84H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	84	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCTCAGGCCCGCACCAACTAT	0.552													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		18502	0.001		0.0	False		,,,				2504	0.0					ENST00000456829.2																			0				autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						c.(250-252)cGc>cAc		von Willebrand factor A domain containing 5A							40.0	41.0	41.0					11																	123988900		2201	4299	6500	SO:0001583	missense	4013							g.chr11:123988900G>A	AF002672	CCDS8444.1, CCDS8445.1	11q24.1	2008-07-25	2008-07-25	2008-07-25	ENSG00000110002	ENSG00000110002			6658	protein-coding gene	gene with protein product		602929	"""loss of heterozygosity, 11, chromosomal region 2, gene A"""	LOH11CR2A		9417908, 14504409	Standard	NM_001130142		Approved	BCSC-1	uc001pzt.3	O00534	OTTHUMG00000165971	ENST00000456829.2:c.251G>A	11.37:g.123988900G>A	ENSP00000407726:p.Arg84His					VWA5A_ENST00000360334.4_Missense_Mutation_p.R84H|VWA5A_ENST00000392744.4_Missense_Mutation_p.R100H|VWA5A_ENST00000392748.1_Missense_Mutation_p.R84H|VWA5A_ENST00000449321.1_Missense_Mutation_p.R84H|VWA5A_ENST00000361352.5_Missense_Mutation_p.R84H	p.R84H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN			5	502	+			84			VIT.		Q6UN19|Q6UN20|Q9BVF8	Missense_Mutation	SNP	ENST00000456829.2	37	c.251G>A	CCDS8444.1	.	.	.	.	.	.	.	.	.	.	G	3.080	-0.189188	0.06299	.	.	ENSG00000110002	ENST00000456829;ENST00000360334;ENST00000392748;ENST00000524524;ENST00000530025;ENST00000361352;ENST00000449321;ENST00000392744	T;T;T;T;T;T	0.25085	1.82;1.82;1.82;1.82;1.82;1.82	5.5	0.143	0.14820	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.969271	0.08640	N	0.915721	T	0.10594	0.0259	N	0.04746	-0.17	0.09310	N	1	B;B	0.17268	0.021;0.021	B;B	0.15870	0.014;0.009	T	0.37079	-0.9721	10	0.20046	T	0.44	-1.6539	4.7098	0.12867	0.4215:0.2973:0.2812:0.0	.	100;84	B4DHS6;O00534	.;VMA5A_HUMAN	H	84;84;84;84;84;84;84;100	ENSP00000407726:R84H;ENSP00000353485:R84H;ENSP00000376504:R84H;ENSP00000355070:R84H;ENSP00000404683:R84H;ENSP00000376501:R100H	ENSP00000353485:R84H	R	+	2	0	VWA5A	123494110	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.612000	0.24283	-0.222000	0.09958	-0.793000	0.03317	CGC		0.552	VWA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387273.1	NM_014622		3	47	0	0	0	1	0	3	47				
MUC16	94025	broad.mit.edu	37	19	9057506	9057506	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:9057506C>A	ENST00000397910.4	-	3	30143	c.29940G>T	c.(29938-29940)ttG>ttT	p.L9980F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9982	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGGTCCTTGCCAAGGGGGCTG	0.463																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(29938-29940)ttG>ttT		mucin 16, cell surface associated							196.0	191.0	192.0					19																	9057506		1943	4141	6084	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9057506C>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.29940G>T	19.37:g.9057506C>A	ENSP00000381008:p.Leu9980Phe						p.L9980F	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	30143	-			9982			Ser-rich.|Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.29940G>T	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	3.575	-0.086749	0.07097	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	2.03	0.878	0.19150	.	.	.	.	.	T	0.13500	0.0327	N	0.08118	0	.	.	.	P	0.39809	0.689	B	0.41332	0.354	T	0.16748	-1.0392	8	0.87932	D	0	.	6.1308	0.20204	0.0:0.6764:0.3236:0.0	.	9980	B5ME49	.	F	9980	ENSP00000381008:L9980F	ENSP00000381008:L9980F	L	-	3	2	MUC16	8918506	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.179000	0.16840	0.355000	0.24131	0.460000	0.39030	TTG		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		10	165	1	0	0.000673444	1	0.000734666	10	165				
HIVEP3	59269	broad.mit.edu	37	1	42048550	42048550	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:42048550C>A	ENST00000372583.1	-	4	2804	c.1919G>T	c.(1918-1920)gGg>gTg	p.G640V	HIVEP3_ENST00000372584.1_Missense_Mutation_p.G640V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G640V|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G640V	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	640	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GTAGATCACCCCTTTTGTTTT	0.473																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1918-1920)gGg>gTg		human immunodeficiency virus type I enhancer binding protein 3							140.0	138.0	139.0					1																	42048550		2203	4300	6503	SO:0001583	missense	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048550C>A	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1919G>T	1.37:g.42048550C>A	ENSP00000361664:p.Gly640Val					HIVEP3_ENST00000372583.1_Missense_Mutation_p.G640V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G640V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.G640V	p.G640V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2933	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	640			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	ENST00000372583.1	37	c.1919G>T	CCDS463.1	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532653	0.45073	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.25579	1.79;1.79;1.79;1.79	4.47	4.47	0.54385	.	0.000000	0.53938	D	0.000058	T	0.49541	0.1563	M	0.69358	2.11	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.989	T	0.50742	-0.8792	10	0.51188	T	0.08	3.3037	16.914	0.86147	0.0:1.0:0.0:0.0	.	640;640	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	V	640	ENSP00000361665:G640V;ENSP00000361664:G640V;ENSP00000247584:G640V;ENSP00000410828:G640V	ENSP00000247584:G640V	G	-	2	0	HIVEP3	41821137	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.345000	0.59360	2.326000	0.78906	0.555000	0.69702	GGG		0.473	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	120	1	0	0.00307968	1	0.00326084	7	120				
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.3_Intron	NM_001039703.4	NP_001034792.4	Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	750						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413																																						ENST00000342960.5																			4	Substitution - coding silent(4)	p.K3445K(4)	prostate(3)|kidney(1)	NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(10333-10335)aaA>aaG		neuroblastoma breakpoint family, member 10																																				SO:0001819	synonymous_variant	100132406							g.chr1:145367739A>G	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000342960.5:c.10335A>G	1.37:g.145367739A>G						NBPF10_ENST00000369338.1_Intron|NBPF10_ENST00000369339.2_Intron	p.K3445K	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	83	10370	+	all_hematologic(923;0.032)		3445					Q5RHC0|Q9NWN6	Silent	SNP	ENST00000342960.5	37	c.10335A>G	CCDS53355.1																																																																																				0.413	NBPF10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001039703		3	67	0	0	0	1	0	3	67				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		3	49	0	0	0	1	0	3	49				
HIATL1	84641	broad.mit.edu	37	9	97177508	97177508	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr9:97177508G>T	ENST00000375344.3	+	2	446	c.177G>T	c.(175-177)tgG>tgT	p.W59C	HIATL1_ENST00000428393.2_5'UTR	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	59					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TCTTTGCGTGGGGCCTGTTGA	0.393																																					Pancreas(77;1260 1915 1973 10423)	ENST00000375344.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11						c.(175-177)tgG>tgT		hippocampus abundant transcript-like 1							207.0	186.0	193.0					9																	97177508		2203	4300	6503	SO:0001583	missense	84641				transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity	g.chr9:97177508G>T	AK027659	CCDS6710.2	9q22.32	2009-12-04			ENSG00000148110	ENSG00000148110			23376	protein-coding gene	gene with protein product							Standard	XM_005252277		Approved	FLJ14753	uc004aur.3	Q5SR56	OTTHUMG00000020265	ENST00000375344.3:c.177G>T	9.37:g.97177508G>T	ENSP00000364493:p.Trp59Cys					HIATL1_ENST00000428393.2_5'UTR	p.W59C	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN			2	446	+		Acute lymphoblastic leukemia(62;0.136)	59					B4DUE6|E9PD58|Q3KQT4|Q53GU5|Q8WU95|Q96SM4	Missense_Mutation	SNP	ENST00000375344.3	37	c.177G>T	CCDS6710.2	.	.	.	.	.	.	.	.	.	.	.	16.68	3.190641	0.58017	.	.	ENSG00000148110	ENST00000375344	T	0.81163	-1.46	3.8	3.8	0.43715	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.192723	0.35407	N	0.003227	D	0.90625	0.7060	M	0.90650	3.135	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92378	0.5911	10	0.72032	D	0.01	-2.1469	13.5621	0.61795	0.0:0.0:1.0:0.0	.	59	Q5SR56	HIAL1_HUMAN	C	59	ENSP00000364493:W59C	ENSP00000364493:W59C	W	+	3	0	HIATL1	96217329	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.410000	0.80065	2.131000	0.65755	0.305000	0.20034	TGG		0.393	HIATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053184.1	NM_032558		40	93	1	0	3.4345e-17	1	3.98845e-17	40	93				
LINC00969	440993	broad.mit.edu	37	3	195400918	195400919	+	lincRNA	INS	-	-	T	rs55992531|rs397933710		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454									long intergenic non-protein coding RNA 969																		AGTCttttttctttttttttga	0.525																																						ENST00000445430.1																			0																																																			0							g.chr3:195400918_195400919insT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400927_195400927dupT														0	1454	+									RNA	INS	ENST00000445430.1	37																																																																																						0.525	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			3	5						3	5	---	---	---	---
SDHAP1	255812	broad.mit.edu	37	3	195711343	195711344	+	RNA	INS	-	-	T	rs200252504	byFrequency	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:195711343_195711344insT	ENST00000427841.1	-	0	585					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		AAAGACTTCTCTGTGAGCTTTG	0.381													|||unknown(ALL_OTHER_Ns)	3992	0.797125	0.888	0.8112	5008	,	,		14038	0.8571		0.6809	False		,,,				2504	0.7219				Ovarian(67;1158 1227 12109 20189 43170)	ENST00000427841.1																			0																																																			0							g.chr3:195711343_195711344insT	BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195711344_195711344dupT								NR_003264.2						0	585	-									RNA	INS	ENST00000427841.1	37																																																																																						0.381	SDHAP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000341367.1			3	4						3	4	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578547	7578549	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr17:7578547_7578549delGGG	ENST00000269305.4	-	5	570_572	c.381_383delCCC	c.(379-384)tcccct>tct	p.P128del	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_In_Frame_Del_p.P128del|TP53_ENST00000420246.2_In_Frame_Del_p.P128del|TP53_ENST00000413465.2_In_Frame_Del_p.P128del|TP53_ENST00000445888.2_In_Frame_Del_p.P128del|TP53_ENST00000455263.2_In_Frame_Del_p.P128del	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	128	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.P128S(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.P128fs*42(3)|p.S127F(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.P128A(1)|p.?(1)|p.S127fs*42(1)|p.Y126fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GTTGAGGGCAGGGGAGTACTGTA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		44	Substitution - Missense(13)|Deletion - In frame(11)|Deletion - Frameshift(10)|Whole gene deletion(8)|Unknown(1)|Substitution - coding silent(1)	p.0?(8)|p.P128S(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.P128fs*42(3)|p.S127F(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.P128A(1)|p.?(1)|p.S127fs*42(1)|p.Y126fs*18(1)	breast(7)|upper_aerodigestive_tract(4)|central_nervous_system(4)|ovary(4)|bone(4)|large_intestine(3)|lung(3)|skin(3)|oesophagus(3)|stomach(2)|urinary_tract(2)|biliary_tract(1)|haematopoietic_and_lymphoid_tissue(1)|salivary_gland(1)|liver(1)|prostate(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(379-384)tct>tc	Other conserved DNA damage response genes	tumor protein p53																																				SO:0001651	inframe_deletion	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578547_7578549delGGG	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.381_383delCCC	17.37:g.7578547_7578549delGGG	ENSP00000269305:p.Pro128del	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000359597.4_In_Frame_Del_p.SP127del|TP53_ENST00000445888.2_In_Frame_Del_p.SP127del|TP53_ENST00000455263.2_In_Frame_Del_p.SP127del|TP53_ENST00000269305.4_In_Frame_Del_p.SP127del|TP53_ENST00000413465.2_In_Frame_Del_p.SP127del	p.SP127del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	513_515	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	127		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	In_Frame_Del	DEL	ENST00000269305.4	37	c.381_383delCCC	CCDS11118.1																																																																																				0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		19	11						19	11	---	---	---	---
ATRX	546	broad.mit.edu	37	X	76888722	76888725	+	Frame_Shift_Del	DEL	TTTC	TTTC	-			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chrX:76888722_76888725delTTTC	ENST00000373344.5	-	19	5318_5321	c.5104_5107delGAAA	c.(5104-5109)gaaatafs	p.EI1702fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EI1664fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1702	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TTGTTAAATATTTCTTTAAGTTTC	0.338			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(5104-5109)tafs		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)																																			SO:0001589	frameshift_variant	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76888722_76888725delTTTC	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.5104_5107delGAAA	X.37:g.76888722_76888725delTTTC	ENSP00000362441:p.Glu1702fs					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EI1664fs	p.EI1702fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			19	5318_5321	-			1702			Helicase ATP-binding.		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Frame_Shift_Del	DEL	ENST00000373344.5	37	c.5104_5107delGAAA	CCDS14434.1																																																																																				0.338	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		91	31						91	31	---	---	---	---
