#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ADH7	131	genome.wustl.edu	37	4	100340221	100340221	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chr4:100340221G>A	ENST00000209665.4	-	7	1159	c.919C>T	c.(919-921)Cct>Tct	p.P307S	ADH7_ENST00000476959.1_Missense_Mutation_p.P315S|ADH7_ENST00000437033.2_Missense_Mutation_p.P295S|ADH7_ENST00000482593.1_Missense_Mutation_p.P238S	NM_000673.4	NP_000664.2	P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	307					ethanol catabolic process (GO:0006068)|ethanol oxidation (GO:0006069)|extracellular negative regulation of signal transduction (GO:1900116)|fatty acid omega-oxidation (GO:0010430)|oxidation-reduction process (GO:0055114)|response to bacterium (GO:0009617)|response to ethanol (GO:0045471)|retinoic acid metabolic process (GO:0042573)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular region (GO:0005576)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|aldehyde oxidase activity (GO:0004031)|ethanol binding (GO:0035276)|receptor antagonist activity (GO:0048019)|retinol binding (GO:0019841)|retinol dehydrogenase activity (GO:0004745)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)		GCTGATGGAGGAACTCCTACA	0.512																																						dbGAP											0													136.0	108.0	117.0					4																	100340221		2203	4300	6503	-	-	-	SO:0001583	missense	0			X76342	CCDS34034.1, CCDS54781.1	4q23-q24	2008-02-05			ENSG00000196344	ENSG00000196344	1.1.1.1	"""Alcohol dehydrogenases"""	256	protein-coding gene	gene with protein product		600086				8195208	Standard	NM_000673		Approved	ADH-4	uc021xqj.1	P40394	OTTHUMG00000159318	ENST00000209665.4:c.919C>T	4.37:g.100340221G>A	ENSP00000209665:p.Pro307Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RRB6|A8MVN9|B2R760|B4DWV6|Q13713	Missense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like	p.P307S	ENST00000209665.4	37	c.919	CCDS34034.1	4	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368855	0.24771	.	.	ENSG00000196344	ENST00000437033;ENST00000209665;ENST00000482593;ENST00000476959	T;T;T;T	0.04317	3.65;3.65;3.65;3.65	4.53	2.75	0.32379	Alcohol dehydrogenase, C-terminal (1);NAD(P)-binding domain (1);	0.171423	0.51477	D	0.000083	T	0.07548	0.0190	M	0.73319	2.225	0.37326	D	0.909784	B	0.20550	0.046	B	0.28305	0.088	T	0.07309	-1.0779	10	0.87932	D	0	-30.0619	6.0164	0.19605	0.1695:0.1572:0.6733:0.0	.	307	P40394	ADH7_HUMAN	S	295;307;238;315	ENSP00000414254:P295S;ENSP00000209665:P307S;ENSP00000420613:P238S;ENSP00000420269:P315S	ENSP00000209665:P307S	P	-	1	0	ADH7	100559244	0.995000	0.38212	0.109000	0.21407	0.478000	0.33099	2.610000	0.46325	0.500000	0.27991	0.655000	0.94253	CCT	ADH7	-	pfam_ADH_C	ENSG00000196344		0.512	ADH7-201	KNOWN	basic|CCDS	protein_coding	ADH7	HGNC	protein_coding		156	0.63	1	G	NM_000673		100340221	100340221	-1	no_errors	ENST00000209665	ensembl	human	known	69_37n	missense	104	22.79	31	SNP	0.868	A
CDCP1	64866	genome.wustl.edu	37	3	45127233	45127234	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	CT	CT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chr3:45127233_45127234delCT	ENST00000296129.1	-	9	2541_2542	c.2407_2408delAG	c.(2407-2409)agtfs	p.S803fs		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	803						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTACGGTTCACTCTCAGACTCA	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF468010	CCDS2727.1, CCDS46812.1	3p21.3	2006-03-28			ENSG00000163814	ENSG00000163814		"""CD molecules"""	24357	protein-coding gene	gene with protein product		611735				11466621	Standard	NM_022842		Approved	CD318, SIMA135	uc003com.3	Q9H5V8	OTTHUMG00000133090	ENST00000296129.1:c.2407_2408delAG	3.37:g.45127235_45127236delCT	ENSP00000296129:p.Ser803fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49UB4|Q6NT71|Q6U9Y2|Q8WU91|Q96QU7|Q9H676|Q9H8C2	Frame_Shift_Del	DEL	superfamily_CUB	p.S803fs	ENST00000296129.1	37	c.2408_2407	CCDS2727.1	3																																																																																			CDCP1	-	NULL	ENSG00000163814		0.584	CDCP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCP1	HGNC	protein_coding	OTTHUMT00000256748.3	244	0.40	1	CT	NM_022842		45127233	45127234	-1	no_errors	ENST00000296129	ensembl	human	known	69_37n	frame_shift_del	234	17.19	49	DEL	0.001:0.000	-
ENOX1	55068	genome.wustl.edu	37	13	43930084	43930084	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chr13:43930084T>C	ENST00000261488.6	-	8	1371	c.794A>G	c.(793-795)gAa>gGa	p.E265G	ENOX1_ENST00000540032.1_Missense_Mutation_p.E78G|ENOX1_ENST00000412891.1_Missense_Mutation_p.E265G	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	265					rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CAGAGCGGCTTCGTGCTCCGA	0.642																																						dbGAP											0													104.0	115.0	111.0					13																	43930084		2199	4298	6497	-	-	-	SO:0001583	missense	0			EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.794A>G	13.37:g.43930084T>C	ENSP00000261488:p.Glu265Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E265G	ENST00000261488.6	37	c.794	CCDS9389.1	13	.	.	.	.	.	.	.	.	.	.	T	27.4	4.832242	0.91036	.	.	ENSG00000120658	ENST00000261488;ENST00000412891;ENST00000540032	T;T	0.54675	0.56;0.56	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.72366	0.3451	M	0.75777	2.31	0.80722	D	1	P;D	0.71674	0.944;0.998	P;D	0.72982	0.625;0.979	T	0.76217	-0.3040	10	0.87932	D	0	0.4021	15.8157	0.78597	0.0:0.0:0.0:1.0	.	78;265	B7Z5K1;Q8TC92	.;ENOX1_HUMAN	G	265;265;78	ENSP00000261488:E265G;ENSP00000415054:E265G	ENSP00000261488:E265G	E	-	2	0	ENOX1	42828084	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	7.683000	0.84093	2.142000	0.66516	0.533000	0.62120	GAA	ENOX1	-	NULL	ENSG00000120658		0.642	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENOX1	HGNC	protein_coding	OTTHUMT00000044717.2	40	0.00	0	T	NM_017993		43930084	43930084	-1	no_errors	ENST00000261488	ensembl	human	known	69_37n	missense	33	17.50	7	SNP	1.000	C
AMER1	139285	genome.wustl.edu	37	X	63411027	63411027	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chrX:63411027G>C	ENST00000330258.3	-	2	2412	c.2140C>G	c.(2140-2142)Caa>Gaa	p.Q714E	AMER1_ENST00000403336.1_Missense_Mutation_p.Q714E|AMER1_ENST00000374869.3_Missense_Mutation_p.Q714E	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	714					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									CAGGTACTTTGATCTTTCTTG	0.522																																						dbGAP											67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)											74.0	60.0	64.0					X																	63411027		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.2140C>G	X.37:g.63411027G>C	ENSP00000329117:p.Gln714Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A2IB86|Q8N885	Missense_Mutation	SNP	pfam_Uncharacterised_FAM123	p.Q714E	ENST00000330258.3	37	c.2140	CCDS14377.2	X	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465210	0.43839	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.58652	0.32;0.35;0.32	5.32	4.45	0.53987	.	0.000000	0.56097	D	0.000029	T	0.35422	0.0931	N	0.14661	0.345	0.33494	D	0.589115	B	0.15141	0.012	B	0.09377	0.004	T	0.39583	-0.9607	10	0.23302	T	0.38	-7.0035	7.7637	0.28968	0.0882:0.1619:0.75:0.0	.	714	Q5JTC6	F123B_HUMAN	E	714	ENSP00000364003:Q714E;ENSP00000329117:Q714E;ENSP00000384722:Q714E	ENSP00000329117:Q714E	Q	-	1	0	FAM123B	63327752	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.606000	0.61126	1.337000	0.45525	0.600000	0.82982	CAA	FAM123B	-	NULL	ENSG00000184675		0.522	AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM123B	HGNC	protein_coding	OTTHUMT00000316584.1	109	0.00	0	G	NM_152424		63411027	63411027	-1	no_errors	ENST00000330258	ensembl	human	known	69_37n	missense	75	21.05	20	SNP	0.999	C
FAM86B1	85002	genome.wustl.edu	37	8	12040906	12040906	+	3'UTR	DEL	C	C	-			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chr8:12040906delC	ENST00000448228.2	-	0	1149				AC145124.1_ENST00000579282.1_RNA|FAM86B1_ENST00000321602.8_3'UTR|FAM86B1_ENST00000533852.2_3'UTR	NM_001083537.1	NP_001077006.1	Q8N7N1	F86B1_HUMAN	family with sequence similarity 86, member B1											kidney(1)|prostate(1)|stomach(1)	3			STAD - Stomach adenocarcinoma(15;0.033)	COAD - Colon adenocarcinoma(149;0.0965)		TGATGATTTTCTTGAGAACCA	0.398																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC007983	CCDS59512.1	8p23.1	2014-02-12	2005-08-19		ENSG00000186523	ENSG00000186523			28268	protein-coding gene	gene with protein product						12477932	Standard	NM_001083537		Approved	MGC16279	uc010lse.3	Q8N7N1	OTTHUMG00000165298	ENST00000448228.2:c.*209G>-	8.37:g.12040906delC		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000448228.2	37	NULL	CCDS59512.1	8																																																																																			FAM86B1	-	-	ENSG00000186523		0.398	FAM86B1-016	KNOWN	basic|CCDS	protein_coding	FAM86B1	HGNC	protein_coding	OTTHUMT00000383317.1	8	0.00	0	C	NM_032916		12040906	12040906	-1	no_errors	ENST00000524484	ensembl	human	known	69_37n	rna	4	33.33	2	DEL	0.002	-
FBLN2	2199	genome.wustl.edu	37	3	13671349	13671349	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chr3:13671349C>T	ENST00000295760.7	+	13	2800	c.2731C>T	c.(2731-2733)Cgc>Tgc	p.R911C	FBLN2_ENST00000492059.1_Missense_Mutation_p.R958C|FBLN2_ENST00000404922.3_Missense_Mutation_p.R958C|FBLN2_ENST00000535798.1_Missense_Mutation_p.R937C	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	911	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTCGCCAGGCCGCCTGTGCCA	0.652																																						dbGAP											0													18.0	22.0	20.0					3																	13671349		2119	4227	6346	-	-	-	SO:0001583	missense	0			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2731C>T	3.37:g.13671349C>T	ENSP00000295760:p.Arg911Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_,smart_EGF-like,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom	p.R958C	ENST00000295760.7	37	c.2872	CCDS46762.1	3	.	.	.	.	.	.	.	.	.	.	C	19.55	3.849370	0.71603	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059	T;T;T;T	0.79749	-1.3;-1.29;-1.22;-1.29	5.1	5.1	0.69264	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.83723	0.5316	N	0.24115	0.695	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.84516	0.0625	10	0.42905	T	0.14	.	18.514	0.90928	0.0:1.0:0.0:0.0	.	911;958;937	P98095;P98095-2;F5H1F3	FBLN2_HUMAN;.;.	C	937;958;911;958	ENSP00000445705:R937C;ENSP00000384169:R958C;ENSP00000295760:R911C;ENSP00000420042:R958C	ENSP00000295760:R911C	R	+	1	0	FBLN2	13646350	1.000000	0.71417	0.815000	0.32552	0.209000	0.24338	6.066000	0.71185	2.370000	0.80446	0.467000	0.42956	CGC	FBLN2	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000163520		0.652	FBLN2-002	KNOWN	basic|CCDS	protein_coding	FBLN2	HGNC	protein_coding	OTTHUMT00000340083.3	27	0.00	0	C	NM_001004019		13671349	13671349	+1	no_errors	ENST00000404922	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	1.000	T
GLI2	2736	genome.wustl.edu	37	2	121747788	121747788	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chr2:121747788C>T	ENST00000452319.1	+	14	4358	c.4298C>T	c.(4297-4299)cCg>cTg	p.P1433L	GLI2_ENST00000361492.4_Missense_Mutation_p.P1433L|GLI2_ENST00000314490.11_Intron					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGCCGCCTCCGCAGGACGCA	0.652																																						dbGAP											0													38.0	43.0	41.0					2																	121747788		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4298C>T	2.37:g.121747788C>T	ENSP00000390436:p.Pro1433Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1433L	ENST00000452319.1	37	c.4298	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	0.716	-0.785255	0.02907	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.13657	2.57;2.57	3.77	1.73	0.24493	.	0.464209	0.18547	N	0.138030	T	0.11367	0.0277	L	0.56769	1.78	0.09310	N	1	B;B	0.15473	0.002;0.013	B;B	0.08055	0.001;0.003	T	0.21381	-1.0247	9	.	.	.	.	3.9094	0.09196	0.2528:0.6166:0.0:0.1307	.	1433;1088	P10070;P10070-2	GLI2_HUMAN;.	L	1433	ENSP00000390436:P1433L;ENSP00000354586:P1433L	.	P	+	2	0	GLI2	121464258	0.000000	0.05858	0.145000	0.22337	0.004000	0.04260	-0.029000	0.12329	0.787000	0.33731	-0.463000	0.05309	CCG	GLI2	-	NULL	ENSG00000074047		0.652	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	37	0.00	0	C	NM_005270		121747788	121747788	+1	no_errors	ENST00000361492	ensembl	human	known	69_37n	missense	20	19.23	5	SNP	0.001	T
MAP3K1	4214	genome.wustl.edu	37	5	56178571	56178571	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chr5:56178571G>T	ENST00000399503.3	+	14	3544	c.3544G>T	c.(3544-3546)Gaa>Taa	p.E1182*		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1182	Poly-Glu.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGAGAAGATGGAAGCTGAAGA	0.423																																						dbGAP											0													79.0	80.0	80.0					5																	56178571		2084	4242	6326	-	-	-	SO:0001587	stop_gained	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.3544G>T	5.37:g.56178571G>T	ENSP00000382423:p.Glu1182*	Somatic		WXS	Illumina GAIIx	Phase_IV		Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.E1182*	ENST00000399503.3	37	c.3544	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	40	8.327099	0.98762	.	.	ENSG00000095015	ENST00000399503	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	1182	.	ENSP00000382423:E1182X	E	+	1	0	MAP3K1	56214328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.158000	0.89649	2.941000	0.99782	0.655000	0.94253	GAA	MAP3K1	-	NULL	ENSG00000095015		0.423	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	124	0.00	0	G	XM_042066		56178571	56178571	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	nonsense	148	11.38	19	SNP	1.000	T
PGBD5	79605	genome.wustl.edu	37	1	230492718	230492718	+	Silent	SNP	G	G	A			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chr1:230492718G>A	ENST00000525115.1	-	2	497	c.474C>T	c.(472-474)caC>caT	p.H158H	PGBD5_ENST00000321327.2_Silent_p.H257H|PGBD5_ENST00000391860.1_Silent_p.H112H			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	158						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		TGTAGAGCCCGTGCGTGGTCT	0.622																																						dbGAP											0													82.0	74.0	77.0					1																	230492718		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.474C>T	1.37:g.230492718G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Silent	SNP	NULL	p.H257	ENST00000525115.1	37	c.771		1																																																																																			PGBD5	-	NULL	ENSG00000177614		0.622	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	91	0.00	0	G	NM_024554		230492718	230492718	-1	no_errors	ENST00000321327	ensembl	human	known	69_37n	silent	91	11.65	12	SNP	0.361	A
OR2T27	403239	genome.wustl.edu	37	1	248813454	248813454	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chr1:248813454G>T	ENST00000344889.3	-	1	731	c.732C>A	c.(730-732)caC>caA	p.H244Q		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	244						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAACCACCATGTGTGAGGAGC	0.522																																						dbGAP											0													42.0	29.0	33.0					1																	248813454		2183	4262	6445	-	-	-	SO:0001583	missense	0				CCDS31124.1	1q44	2012-08-09			ENSG00000187701	ENSG00000187701		"""GPCR / Class A : Olfactory receptors"""	31252	protein-coding gene	gene with protein product							Standard	NM_001001824		Approved		uc010pzo.2	Q8NH04	OTTHUMG00000040376	ENST00000344889.3:c.732C>A	1.37:g.248813454G>T	ENSP00000342008:p.His244Gln	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H244Q	ENST00000344889.3	37	c.732	CCDS31124.1	1	.	.	.	.	.	.	.	.	.	.	.	10.93	1.489126	0.26686	.	.	ENSG00000187701	ENST00000344889	T	0.00307	8.17	3.42	0.24	0.15489	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41194	D	0.000921	T	0.00845	0.0028	H	0.96833	3.89	0.19775	N	0.99995	D	0.89917	1.0	D	0.85130	0.997	T	0.34254	-0.9836	10	0.87932	D	0	.	7.1846	0.25793	0.439:0.0:0.561:0.0	.	244	Q8NH04	O2T27_HUMAN	Q	244	ENSP00000342008:H244Q	ENSP00000342008:H244Q	H	-	3	2	OR2T27	246880077	0.804000	0.28969	0.913000	0.36048	0.323000	0.28346	0.081000	0.14823	0.217000	0.20800	0.400000	0.26472	CAC	OR2T27	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000187701		0.522	OR2T27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T27	HGNC	protein_coding	OTTHUMT00000097124.1	131	0.00	0	G	NM_001001824		248813454	248813454	-1	no_errors	ENST00000344889	ensembl	human	known	69_37n	missense	151	12.21	21	SNP	0.451	T
RAPGEF6	51735	genome.wustl.edu	37	5	130970657	130970657	+	Missense_Mutation	SNP	C	C	T	rs576014852		TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chr5:130970657C>T	ENST00000509018.1	-	1	272	c.67G>A	c.(67-69)Gag>Aag	p.E23K	RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E23K|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E23K|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E23K|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E23K|CTC-432M15.3_ENST00000514667.1_Intron|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E23K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	23					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGCCTCACCTCGGGAGTCCGC	0.627											OREG0016760	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(168;435 1955 13113 13877 23213)	dbGAP											0													89.0	82.0	84.0					5																	130970657		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.67G>A	5.37:g.130970657C>T	ENSP00000421684:p.Glu23Lys	Somatic	1584	WXS	Illumina GAIIx	Phase_IV	A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E23K	ENST00000509018.1	37	c.67	CCDS34225.1	5	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749666	0.49257	.	.	ENSG00000158987	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071	T;T;T;T;T;T	0.12465	2.68;2.68;2.68;2.68;2.68;2.68	5.04	5.04	0.67666	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.268143	0.30109	N	0.010395	T	0.14056	0.0340	L	0.49778	1.585	0.80722	D	1	B;B;B;B;B	0.30482	0.06;0.037;0.281;0.201;0.127	B;B;B;B;B	0.21546	0.009;0.008;0.024;0.035;0.014	T	0.02081	-1.1217	10	0.52906	T	0.07	.	13.768	0.63006	0.0:1.0:0.0:0.0	.	23;23;23;23;23	A3KN82;B7ZML2;Q8TEU7-2;Q8TEU7-3;Q8TEU7	.;.;.;.;RPGF6_HUMAN	K	23	ENSP00000421684:E23K;ENSP00000309298:E23K;ENSP00000426081:E23K;ENSP00000296859:E23K;ENSP00000311419:E23K;ENSP00000425389:E23K	ENSP00000296859:E23K	E	-	1	0	RAPGEF6	130998556	0.984000	0.35163	0.978000	0.43139	0.140000	0.21249	3.233000	0.51311	2.634000	0.89283	0.563000	0.77884	GAG	RAPGEF6	-	superfamily_cNMP-bd-like	ENSG00000158987		0.627	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAPGEF6	HGNC	protein_coding	OTTHUMT00000370059.1	105	0.00	0	C	NM_016340		130970657	130970657	-1	no_errors	ENST00000509018	ensembl	human	known	69_37n	missense	87	15.53	16	SNP	0.982	T
TCEAL3	85012	genome.wustl.edu	37	X	102864406	102864408	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	GAT	GAT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chrX:102864406_102864408delGAT	ENST00000372628.1	+	3	772_774	c.414_416delGAT	c.(412-417)gagatg>gag	p.M140del	TCEAL3_ENST00000243286.3_In_Frame_Del_p.M140del|TCEAL3_ENST00000372627.5_In_Frame_Del_p.M140del|TCEAL3_ENST00000477014.1_Intron			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						GCAGTGAGGAGATGATGAGAGAA	0.483																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.414_416delGAT	X.37:g.102864409_102864411delGAT	ENSP00000361711:p.Met140del	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DXA4	In_Frame_Del	DEL	pfam_TF_A-like/BEX-like	p.M140in_frame_del	ENST00000372628.1	37	c.414_416	CCDS14511.1	X																																																																																			TCEAL3	-	pfam_TF_A-like/BEX-like	ENSG00000196507		0.483	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL3	HGNC	protein_coding	OTTHUMT00000057737.1	1203	0.74	9	GAT	NM_032926		102864406	102864408	+1	no_errors	ENST00000243286	ensembl	human	known	69_37n	in_frame_del	953	15.29	172	DEL	0.998:0.991:0.986	-
VWF	7450	genome.wustl.edu	37	12	6091157	6091157	+	Splice_Site	SNP	G	G	A			TCGA-BH-A18M-01A-11D-A12B-09	TCGA-BH-A18M-11A-33D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	0e548c1e-cbb7-4432-8112-bb262a1ef9d9	24bf6da8-6015-4a98-affd-0a172d7d3265	g.chr12:6091157G>A	ENST00000261405.5	-	42	7336	c.7082C>T	c.(7081-7083)gCc>gTc	p.A2361V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2361					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTTCCTGCAGGCTGAGGGTAG	0.577																																						dbGAP											0													42.0	38.0	40.0					12																	6091157		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7082-1C>T	12.37:g.6091157G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TCE8|Q99806	Missense_Mutation	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.A2361V	ENST00000261405.5	37	c.7082	CCDS8539.1	12	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774056	0.31411	.	.	ENSG00000110799	ENST00000261405	T	0.33654	1.4	4.83	3.01	0.34805	.	0.174668	0.27535	N	0.018922	T	0.23727	0.0574	L	0.33245	0.995	0.80722	D	1	B	0.12013	0.005	B	0.11329	0.006	T	0.05084	-1.0907	10	0.12103	T	0.63	.	9.9641	0.41715	0.1627:0.0:0.8373:0.0	.	2361	P04275	VWF_HUMAN	V	2361	ENSP00000261405:A2361V	ENSP00000261405:A2361V	A	-	2	0	VWF	5961418	0.993000	0.37304	1.000000	0.80357	0.947000	0.59692	1.429000	0.34903	0.645000	0.30675	0.555000	0.69702	GCC	VWF	-	pirsf_VWF	ENSG00000110799		0.577	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	61	0.00	0	G	NM_000552	Missense_Mutation	6091157	6091157	-1	no_errors	ENST00000261405	ensembl	human	known	69_37n	missense	46	19.30	11	SNP	1.000	A
