#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_Mutation_Status	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
MUC16	94025	broad.mit.edu	37	19	9089401	9089401	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:9089401C>T	ENST00000397910.4	-	1	2617	c.2414G>A	c.(2413-2415)aGt>aAt	p.S805N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	805	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						AGTGAGGACACTCCCTGCTGT	0.512																																						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.(2413-2415)aGt>aAt		mucin 16, cell surface associated							231.0	222.0	225.0					19																	9089401		2047	4191	6238	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9089401C>T	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.2414G>A	19.37:g.9089401C>T	ENSP00000381008:p.Ser805Asn		Somatic					p.S805N	NM_024690.2	NP_078966.2	WXS	Illumina GAIIx	Phase_I	Q8WXI7	MUC16_HUMAN			1	2617	-			805			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.2414G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.021	0.001418	0.07819	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.56	1.56	0.23342	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.38156	0.266	T	0.45469	-0.9259	8	0.87932	D	0	.	6.5643	0.22503	0.0:1.0:0.0:0.0	.	805	B5ME49	.	N	805	ENSP00000381008:S805N	ENSP00000381008:S805N	S	-	2	0	MUC16	8950401	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.046000	0.03525	1.175000	0.42826	0.205000	0.17691	AGT		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		64	83	0	0	0	1	0	64	83				
ATP13A5	344905	broad.mit.edu	37	3	193071963	193071963	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr3:193071963C>T	ENST00000342358.4	-	6	676	c.559G>A	c.(559-561)Gcc>Acc	p.A187T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	187						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ACCTCAATGGCGTTGGGCCCA	0.388																																						ENST00000342358.4																			0				NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76						c.(559-561)Gcc>Acc		ATPase type 13A5							123.0	109.0	114.0					3																	193071963		2203	4300	6503	SO:0001583	missense	344905				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193071963C>T	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.559G>A	3.37:g.193071963C>T	ENSP00000341942:p.Ala187Thr		Somatic					p.A187T	NM_198505.2	NP_940907.2	WXS	Illumina GAIIx	Phase_I	Q4VNC0	AT135_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	6	676	-	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		187					Q6UWS4|Q6ZWL0	Missense_Mutation	SNP	ENST00000342358.4	37	c.559G>A	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	2.047	-0.418546	0.04766	.	.	ENSG00000187527	ENST00000342358	T	0.78816	-1.21	5.13	0.117	0.14652	ATPase, P-type cation-transporter, N-terminal (2);	0.413650	0.22932	N	0.053897	T	0.51822	0.1697	N	0.12471	0.22	0.20764	N	0.999852	B	0.12630	0.006	B	0.15052	0.012	T	0.30090	-0.9990	10	0.14252	T	0.57	-1.2205	5.1409	0.14959	0.2471:0.5171:0.0:0.2358	.	187	Q4VNC0	AT135_HUMAN	T	187	ENSP00000341942:A187T	ENSP00000341942:A187T	A	-	1	0	ATP13A5	194554657	0.007000	0.16637	0.622000	0.29159	0.322000	0.28314	-0.171000	0.09883	-0.306000	0.08818	-0.940000	0.02684	GCC		0.388	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1	NM_198505		42	6	0	0	0	1	0	42	6				
TNPO1	3842	broad.mit.edu	37	5	72184017	72184017	+	Silent	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr5:72184017C>T	ENST00000337273.5	+	13	1842	c.1416C>T	c.(1414-1416)cgC>cgT	p.R472R	TNPO1_ENST00000506351.2_Silent_p.R464R|TNPO1_ENST00000454282.1_Silent_p.R422R|TNPO1_ENST00000523768.1_Silent_p.R422R	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	472					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|protein import into nucleus, translocation (GO:0000060)|RNA metabolic process (GO:0016070)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTCTTAGCCGCTATGCACACT	0.488																																						ENST00000337273.5																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						c.(1414-1416)cgC>cgT		transportin 1							118.0	118.0	118.0					5																	72184017		2203	4300	6503	SO:0001819	synonymous_variant	3842				interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	g.chr5:72184017C>T	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312		"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2		8808633, 9144189	Standard	NM_153188		Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000337273.5:c.1416C>T	5.37:g.72184017C>T			Somatic				TNPO1_ENST00000523768.1_Silent_p.R422R|TNPO1_ENST00000454282.1_Silent_p.R422R|TNPO1_ENST00000506351.2_Silent_p.R464R	p.R472R	NM_002270.3	NP_002261.3	WXS	Illumina GAIIx	Phase_I	Q92973	TNPO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	13	1842	+		Lung NSC(167;0.0053)|Ovarian(174;0.0175)	472					B4DVC6|Q92957|Q92975	Silent	SNP	ENST00000337273.5	37	c.1416C>T	CCDS43329.1																																																																																				0.488	TNPO1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000218577.3	NM_002270		34	52	0	0	0	1	0	34	52				
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000438826.3_Splice_Site	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0					ENST00000584811.1																			0											c.e7-2		trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																																				SO:0001627	intron_variant	201158							g.chr17:15441469C>T	BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T			Somatic				TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000225576.3_Intron|TVP23C-CDRT4_ENST00000522212.2_Intron				WXS	Illumina GAIIx	Phase_I					7	1815	-								Q3LIC7	Splice_Site	SNP	ENST00000225576.3	37		CCDS11170.1	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000130705.2	NM_145301		4	46	0	0	0	1	0	4	46				
FBXO10	26267	broad.mit.edu	37	9	37518321	37518321	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr9:37518321G>A	ENST00000432825.2	-	9	2363	c.2315C>T	c.(2314-2316)gCc>gTc	p.A772V	RP11-613M10.8_ENST00000544475.1_5'UTR|FBXO10_ENST00000541829.1_Missense_Mutation_p.A297V	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	772					apoptotic process (GO:0006915)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of apoptotic process (GO:0042981)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GCTGTTGTTGGCCACTCGGGT	0.582																																						ENST00000432825.2																			0				breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34						c.(2314-2316)gCc>gTc		F-box protein 10							82.0	92.0	89.0					9																	37518321		2134	4240	6374	SO:0001583	missense	26267					ubiquitin ligase complex	ubiquitin-protein ligase activity	g.chr9:37518321G>A	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912		"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""			10531035, 10531037, 19300908	Standard	NM_012166		Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2315C>T	9.37:g.37518321G>A	ENSP00000403802:p.Ala772Val		Somatic				FBXO10_ENST00000541829.1_Missense_Mutation_p.A297V|RP11-613M10.8_ENST00000544475.1_5'UTR	p.A772V	NM_012166.2	NP_036298.2	WXS	Illumina GAIIx	Phase_I	Q9UK96	FBX10_HUMAN		GBM - Glioblastoma multiforme(29;0.0107)	9	2363	-			772					Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	Missense_Mutation	SNP	ENST00000432825.2	37	c.2315C>T	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893263	0.52121	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.79845	-1.31;-1.31	5.36	5.36	0.76844	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.418647	0.25549	N	0.029907	T	0.66066	0.2752	N	0.12182	0.205	0.37402	D	0.91289	B;B;B	0.19706	0.011;0.038;0.013	B;B;B	0.20955	0.017;0.032;0.032	T	0.65228	-0.6219	10	0.30854	T	0.27	-5.8176	13.6118	0.62083	0.0:0.1557:0.8442:0.0	.	651;297;772	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	V	772;297	ENSP00000403802:A772V;ENSP00000441307:A297V	ENSP00000403802:A772V	A	-	2	0	FBXO10	37508321	0.805000	0.28982	0.991000	0.47740	0.956000	0.61745	2.188000	0.42612	2.496000	0.84212	0.563000	0.77884	GCC		0.582	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3			3	28	0	0	0	1	0	3	28				
FUK	197258	broad.mit.edu	37	16	70500085	70500085	+	Silent	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr16:70500085C>T	ENST00000288078.6	+	5	568	c.336C>T	c.(334-336)ccC>ccT	p.P112P	FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Silent_p.P144P|FUK_ENST00000428974.2_Silent_p.P95P	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	112						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGCCTCCCCGTGGAGAACC	0.637																																						ENST00000288078.6																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23						c.(334-336)ccC>ccT		fucokinase							55.0	61.0	59.0					16																	70500085		1960	4122	6082	SO:0001819	synonymous_variant	197258					cytoplasm	ATP binding|fucokinase activity	g.chr16:70500085C>T		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.336C>T	16.37:g.70500085C>T			Somatic				FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Silent_p.P95P|FUK_ENST00000378912.2_Silent_p.P144P	p.P112P	NM_145059.2	NP_659496.2	WXS	Illumina GAIIx	Phase_I	Q8N0W3	FUK_HUMAN			5	568	+		Ovarian(137;0.0694)	112					Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	c.336C>T	CCDS10891.2																																																																																				0.637	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059		29	8	0	0	0	1	0	29	8				
PCDHB16	57717	broad.mit.edu	37	5	140563665	140563665	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr5:140563665G>A	ENST00000361016.2	+	1	2686	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	511	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCAGACAACGGCCACCTGTT	0.682																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1531-1533)Ggc>Agc									32.0	33.0	32.0					5																	140563665		2143	4165	6308	SO:0001583	missense	0				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563665G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1531G>A	5.37:g.140563665G>A	ENSP00000354293:p.Gly511Ser		Somatic					p.G511S	NM_020957.1	NP_066008.1	WXS	Illumina GAIIx	Phase_I	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2686	+			511			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1531G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	17.18	3.324679	0.60634	.	.	ENSG00000196963	ENST00000361016	D	0.91407	-2.84	4.26	4.26	0.50523	Cadherin (5);Cadherin-like (1);	0.000000	0.35040	N	0.003495	D	0.97473	0.9173	H	0.99789	4.78	0.43579	D	0.995916	D	0.89917	1.0	D	0.97110	1.0	D	0.97504	1.0062	10	0.87932	D	0	.	11.0898	0.48108	0.0926:0.0:0.9074:0.0	.	511	Q9NRJ7	PCDBG_HUMAN	S	511	ENSP00000354293:G511S	ENSP00000354293:G511S	G	+	1	0	PCDHB16	140543849	1.000000	0.71417	0.499000	0.27577	0.020000	0.10135	7.779000	0.85648	1.931000	0.55961	0.580000	0.79431	GGC		0.682	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		31	59	0	0	0	1	0	31	59				
RAB2B	84932	broad.mit.edu	37	14	21936887	21936887	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr14:21936887T>C	ENST00000397762.1	-	4	311	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	71					positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)			NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)		GAACGGGTGATAGAACGGAAG	0.498																																					Melanoma(131;1007 1750 28652 34486 42672)	ENST00000397762.1																			0				NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6						c.(211-213)Atc>Gtc		RAB2B, member RAS oncogene family							91.0	83.0	86.0					14																	21936887		2203	4300	6503	SO:0001583	missense	84932				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding	g.chr14:21936887T>C	AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472		"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466				12376746	Standard	NM_032846		Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.211A>G	14.37:g.21936887T>C	ENSP00000380869:p.Ile71Val		Somatic				RAB2B_ENST00000461909.1_5'UTR	p.I71V	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	WXS	Illumina GAIIx	Phase_I	Q8WUD1	RAB2B_HUMAN	Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)	4	311	-	all_cancers(95;0.000858)		71					B2RD03|D3DS24|Q6NZ33	Missense_Mutation	SNP	ENST00000397762.1	37	c.211A>G	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.578189	0.65878	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.77229	-1.08	5.81	5.81	0.92471	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000003	T	0.75406	0.3845	L	0.33753	1.03	0.80722	D	1	P	0.40602	0.723	P	0.47786	0.557	T	0.72846	-0.4169	10	0.27082	T	0.32	.	15.1438	0.72633	0.0:0.0:0.0:1.0	.	71	Q8WUD1	RAB2B_HUMAN	V	71	ENSP00000380869:I71V	ENSP00000302005:I71V	I	-	1	0	RAB2B	21006727	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.832000	0.69337	2.216000	0.71823	0.533000	0.62120	ATC		0.498	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4			25	31	0	0	0	1	0	25	31				
CD109	135228	broad.mit.edu	37	6	74477911	74477911	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr6:74477911G>T	ENST00000287097.5	+	14	1743	c.1631G>T	c.(1630-1632)aGt>aTt	p.S544I	CD109_ENST00000437994.2_Missense_Mutation_p.S544I|CD109_ENST00000422508.2_Missense_Mutation_p.S467I			Q6YHK3	CD109_HUMAN	CD109 molecule	544					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAAATTATAAGTGATGTTCTA	0.279																																						ENST00000437994.2																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(1630-1632)aGt>aTt		CD109 molecule							69.0	73.0	72.0					6																	74477911		2203	4299	6502	SO:0001583	missense	135228					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	g.chr6:74477911G>T	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1631G>T	6.37:g.74477911G>T	ENSP00000287097:p.Ser544Ile		Somatic				CD109_ENST00000287097.5_Missense_Mutation_p.S544I|CD109_ENST00000422508.2_Missense_Mutation_p.S467I	p.S544I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	WXS	Illumina GAIIx	Phase_I	Q6YHK3	CD109_HUMAN			14	2062	+			544					A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	ENST00000287097.5	37	c.1631G>T	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233090	0.39498	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.62639	0.01;0.01;0.01	4.76	0.895	0.19247	Alpha-2-macroglobulin, N-terminal 2 (1);	0.273890	0.40222	N	0.001160	T	0.30854	0.0778	L	0.32530	0.975	0.22342	N	0.999181	B;B;B;B	0.33477	0.413;0.298;0.107;0.045	B;B;B;B	0.37833	0.088;0.259;0.241;0.189	T	0.21109	-1.0255	10	0.52906	T	0.07	.	8.3782	0.32455	0.7563:0.0:0.2437:0.0	.	467;544;544;544	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	I	544;467;544	ENSP00000388062:S544I;ENSP00000404475:S467I;ENSP00000287097:S544I	ENSP00000287097:S544I	S	+	2	0	CD109	74534632	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	2.037000	0.41174	0.076000	0.16826	-0.752000	0.03492	AGT		0.279	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3	NM_133493		14	1	1	0	2.61681e-11	1	2.73576e-11	14	1				
TSSC2	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr11:3427765G>C	ENST00000529482.1	+	0	882									tumor suppressing subtransferable candidate 2 pseudogene																		CACACGTCCTGCAGTGGCCTG	0.602																																						ENST00000529482.1																			0																																																			0							g.chr11:3427765G>C			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427765G>C			Somatic								WXS	Illumina GAIIx	Phase_I					0	882	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.602	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			3	22	0	0	0	1	0	3	22				
CADM3	57863	broad.mit.edu	37	1	159170598	159170598	+	Silent	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr1:159170598C>T	ENST00000368125.4	+	9	1240	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	CADM3_ENST00000368124.4_Silent_p.T395T|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CTA-134P22.2_ENST00000609696.1_RNA|DARC_ENST00000537147.1_5'Flank	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	361					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)	p.T395T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					ACACAGGAACCTACCTGACAC	0.582																																						ENST00000368125.4																			1	Substitution - coding silent(1)	p.T395T(1)	lung(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						c.(1081-1083)acC>acT		cell adhesion molecule 3							86.0	79.0	82.0					1																	159170598		2203	4300	6503	SO:0001819	synonymous_variant	57863				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	g.chr1:159170598C>T	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.1083C>T	1.37:g.159170598C>T			Somatic				CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.T395T	p.T361T	NM_001127173.1	NP_001120645.1	WXS	Illumina GAIIx	Phase_I	Q8N126	CADM3_HUMAN			9	1240	+	all_hematologic(112;0.0429)		361					Q8IZQ9|Q9NVJ5|Q9UJP1	Silent	SNP	ENST00000368125.4	37	c.1083C>T	CCDS44251.1																																																																																				0.582	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000090330.1	NM_021189		14	29	0	0	0	1	0	14	29				
GNAQ	2776	broad.mit.edu	37	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209			Q -> L (found in blue naevi and uveal melanoma samples; somatic mutation; constitutive activation).		action potential (GO:0001508)|activation of phospholipase C activity (GO:0007202)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|developmental pigmentation (GO:0048066)|embryonic digit morphogenesis (GO:0042733)|forebrain neuron development (GO:0021884)|glutamate receptor signaling pathway (GO:0007215)|heart development (GO:0007507)|maternal behavior (GO:0042711)|negative regulation of protein kinase activity (GO:0006469)|neuron remodeling (GO:0016322)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|post-embryonic development (GO:0009791)|protein stabilization (GO:0050821)|regulation of catenin import into nucleus (GO:0035412)|regulation of melanocyte differentiation (GO:0045634)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|GTP binding (GO:0005525)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)|type 2A serotonin receptor binding (GO:0031826)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)		NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						CTCTGACCTTTGGCCCCCTAC	0.348			Mis		uveal melanoma																																	ENST00000286548.4				Dom	yes		9	9q21	2776	Mis	"""guanine nucleotide binding protein (G protein), q polypeptide"""			E			uveal melanoma		153	Substitution - Missense(153)	p.Q209L(87)|p.Q209P(64)|p.Q209Y(1)|p.Q209R(1)	eye(99)|skin(43)|meninges(10)|NS(1)	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302						c.(625-627)cAa>cTa		guanine nucleotide binding protein (G protein), q polypeptide							108.0	105.0	106.0					9																	80409488		2203	4300	6503	SO:0001583	missense	2776				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	g.chr9:80409488T>A		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052			4390	protein-coding gene	gene with protein product		600998				8825633	Standard	NM_002072		Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu		Somatic				GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	p.Q209L	NM_002072.3	NP_002063.2	WXS	Illumina GAIIx	Phase_I	P50148	GNAQ_HUMAN			5	848	-			209					O15108|Q13462|Q6NT27|Q92471|Q9BZB9	Missense_Mutation	SNP	ENST00000286548.4	37	c.626A>T	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA		0.348	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1	NM_002072		37	32	0	0	0	1	0	37	32				
OR6C65	403282	broad.mit.edu	37	12	55795145	55795145	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr12:55795145C>T	ENST00000379665.2	+	1	932	c.833C>T	c.(832-834)tCt>tTt	p.S278F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						CTTAATACCTCTGTTGCTCCT	0.373																																						ENST00000379665.2																			0				cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						c.(832-834)tCt>tTt		olfactory receptor, family 6, subfamily C, member 65							80.0	77.0	78.0					12																	55795145		2203	4300	6503	SO:0001583	missense	403282				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr12:55795145C>T		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328		"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product							Standard	NM_001005518		Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.833C>T	12.37:g.55795145C>T	ENSP00000368986:p.Ser278Phe		Somatic					p.S278F	NM_001005518.1	NP_001005518.1	WXS	Illumina GAIIx	Phase_I	A6NJZ3	O6C65_HUMAN			1	932	+			278					B2RNH9	Missense_Mutation	SNP	ENST00000379665.2	37	c.833C>T	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631695	0.29068	.	.	ENSG00000205328	ENST00000379665	T	0.00076	8.76	4.24	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	U	0.001404	T	0.00300	0.0009	L	0.49126	1.545	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.48917	-0.8992	10	0.87932	D	0	.	7.3666	0.26776	0.0:0.6774:0.0:0.3226	.	278	A6NJZ3	O6C65_HUMAN	F	278	ENSP00000368986:S278F	ENSP00000368986:S278F	S	+	2	0	OR6C65	54081412	0.002000	0.14202	0.407000	0.26434	0.316000	0.28119	1.431000	0.34925	0.870000	0.35726	0.424000	0.28305	TCT		0.373	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1			30	28	0	0	0	1	0	30	28				
COL12A1	1303	broad.mit.edu	37	6	75890813	75890813	+	Missense_Mutation	SNP	G	G	A	rs201657576	byFrequency	TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr6:75890813G>A	ENST00000322507.8	-	11	2315	c.2006C>T	c.(2005-2007)gCg>gTg	p.A669V	COL12A1_ENST00000483888.2_Missense_Mutation_p.A669V|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A669V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	669	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ATCCCCAGCCGCTTCCTTGTA	0.458													G|||	2	0.000399361	0.0008	0.0	5008	,	,		16115	0.001		0.0	False		,,,				2504	0.0					ENST00000322507.8																			0				breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						c.(2005-2007)gCg>gTg		collagen, type XII, alpha 1		G	VAL/ALA,	2,3952		0,2,1975	85.0	87.0	86.0		2006,	4.2	0.1	6		86	0,8322		0,0,4161	yes	missense,intron	COL12A1	NM_004370.5,NM_080645.2	64,	0,2,6136	AA,AG,GG		0.0,0.0506,0.0163	benign,	669/3064,	75890813	2,12274	1977	4161	6138	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75890813G>A	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2006C>T	6.37:g.75890813G>A	ENSP00000325146:p.Ala669Val		Somatic				COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A669V|COL12A1_ENST00000483888.2_Missense_Mutation_p.A669V	p.A669V	NM_004370.5	NP_004361.3	WXS	Illumina GAIIx	Phase_I	Q99715	COCA1_HUMAN			11	2315	-			669			Fibronectin type-III 3.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.2006C>T	CCDS43482.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.12	1.842601	0.32606	5.06E-4	0.0	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.56275	0.47;0.47;0.47	5.98	4.21	0.49690	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168103	0.40908	N	0.000992	T	0.23649	0.0572	L	0.43646	1.37	0.28392	N	0.919033	B;B	0.34214	0.08;0.442	B;B	0.33568	0.086;0.166	T	0.16100	-1.0414	10	0.13853	T	0.58	.	14.2403	0.65952	0.0902:0.0:0.9098:0.0	.	669;669	D6RGG3;Q99715	.;COCA1_HUMAN	V	669	ENSP00000325146:A669V;ENSP00000412864:A669V;ENSP00000421216:A669V	ENSP00000325146:A669V	A	-	2	0	COL12A1	75947533	0.511000	0.26179	0.076000	0.20297	0.403000	0.30841	2.140000	0.42159	0.870000	0.35726	0.650000	0.86243	GCG		0.458	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		26	6	0	0	0	1	0	26	6				
IL1R1	3554	broad.mit.edu	37	2	102793054	102793054	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr2:102793054G>C	ENST00000410023.1	+	12	1863	c.1545G>C	c.(1543-1545)tgG>tgC	p.W515C	IL1R1_ENST00000409589.1_Intron|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Missense_Mutation_p.W515C|IL1R1_ENST00000409929.1_Missense_Mutation_p.W484C			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	515	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|interleukin-1-mediated signaling pathway (GO:0070498)|regulation of inflammatory response (GO:0050727)|response to interleukin-1 (GO:0070555)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)|platelet-derived growth factor receptor binding (GO:0005161)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CTATCCGCTGGTCAGGGGACT	0.458																																						ENST00000410023.1																			0				breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19						c.(1543-1545)tgG>tgC		interleukin 1 receptor, type I	Anakinra(DB00026)						58.0	57.0	58.0					2																	102793054		2203	4300	6503	SO:0001583	missense	3554				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	g.chr2:102793054G>C	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA		1833184, 10191101	Standard	XM_005263929		Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1545G>C	2.37:g.102793054G>C	ENSP00000386380:p.Trp515Cys		Somatic				IL1R1_ENST00000409929.1_Missense_Mutation_p.W484C|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Missense_Mutation_p.W515C|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron	p.W515C			WXS	Illumina GAIIx	Phase_I	P14778	IL1R1_HUMAN			12	1863	+			515			TIR.		Q587I7	Missense_Mutation	SNP	ENST00000410023.1	37	c.1545G>C	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801015	0.50315	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.03553	3.89;3.89;3.89	5.61	5.61	0.85477	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.058834	0.64402	D	0.000001	T	0.25494	0.0620	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02339	-1.1174	10	0.87932	D	0	.	19.6511	0.95812	0.0:0.0:1.0:0.0	.	484;515	B8ZZW4;P14778	.;IL1R1_HUMAN	C	484;515;515	ENSP00000386776:W484C;ENSP00000386380:W515C;ENSP00000233946:W515C	ENSP00000233946:W515C	W	+	3	0	IL1R1	102159486	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	7.124000	0.77185	2.646000	0.89796	0.563000	0.77884	TGG		0.458	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1			5	12	0	0	0	1	0	5	12				
ZNF709	163051	broad.mit.edu	37	19	12575380	12575380	+	Silent	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:12575380C>T	ENST00000397732.3	-	4	1527	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	ZNF709_ENST00000428311.1_Silent_p.Q452Q|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	452					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(3)|upper_aerodigestive_tract(3)	6						CTTTACCACACTGTTTACATT	0.403																																					GBM(33;565 669 12371 29134 51667)	ENST00000397732.3																			0				large_intestine(3)|upper_aerodigestive_tract(3)	6						c.(1354-1356)caG>caA		zinc finger protein 709							102.0	108.0	106.0					19																	12575380		2203	4296	6499	SO:0001819	synonymous_variant	163051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12575380C>T	AK095600	CCDS42504.1	19p13.2	2013-01-08			ENSG00000242852	ENSG00000242852		"""Zinc fingers, C2H2-type"", ""-"""	20629	protein-coding gene	gene with protein product							Standard	NM_152601		Approved	FLJ38281	uc002mtv.4	Q8N972	OTTHUMG00000156406	ENST00000397732.3:c.1356G>A	19.37:g.12575380C>T			Somatic				CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Silent_p.Q452Q	p.Q452Q	NM_152601.3	NP_689814.1	WXS	Illumina GAIIx	Phase_I	Q8N972	ZN709_HUMAN			4	1527	-			452					A8K4E6	Silent	SNP	ENST00000397732.3	37	c.1356G>A	CCDS42504.1																																																																																				0.403	ZNF709-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344088.1	NM_152601		4	112	0	0	0	1	0	4	112				
FAT3	120114	broad.mit.edu	37	11	92620220	92620220	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr11:92620220G>T	ENST00000298047.6	+	24	13009	c.12992G>T	c.(12991-12993)gGc>gTc	p.G4331V	FAT3_ENST00000533797.1_Missense_Mutation_p.G666V|FAT3_ENST00000525166.1_Missense_Mutation_p.G4181V|FAT3_ENST00000409404.2_Missense_Mutation_p.G4331V|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4331					homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGTAATAAAGGCAGCAACTCT	0.478										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(12991-12993)gGc>gTc		FAT atypical cadherin 3							58.0	60.0	60.0					11																	92620220		1896	4129	6025	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92620220G>T	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.12992G>T	11.37:g.92620220G>T	ENSP00000298047:p.Gly4331Val	TCGA Ovarian(4;0.039)	Somatic				FAT3_ENST00000533797.1_Missense_Mutation_p.G666V|FAT3_ENST00000409404.2_Missense_Mutation_p.G4331V|FAT3_ENST00000525166.1_Missense_Mutation_p.G4181V|FAT3_ENST00000489716.1_3'UTR	p.G4331V			WXS	Illumina GAIIx	Phase_I	Q8TDW7	FAT3_HUMAN			24	13009	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4331					B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12992G>T		.	.	.	.	.	.	.	.	.	.	G	21.7	4.193067	0.78902	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86956	-0.82;-0.9;-0.83;-2.19	5.73	5.73	0.89815	.	.	.	.	.	D	0.91928	0.7444	M	0.75264	2.295	0.80722	D	1	D;B	0.59767	0.986;0.008	P;B	0.55391	0.775;0.017	D	0.91473	0.5198	9	0.49607	T	0.09	.	19.8991	0.96978	0.0:0.0:1.0:0.0	.	4331;4331	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	V	4331;4331;4181;666	ENSP00000298047:G4331V;ENSP00000387040:G4331V;ENSP00000432586:G4181V;ENSP00000436399:G666V	ENSP00000298047:G4331V	G	+	2	0	FAT3	92259868	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.551000	0.67274	2.708000	0.92522	0.655000	0.94253	GGC		0.478	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		8	10	1	0	0.00448238	1	0.00448238	8	10				
INPP5A	3632	broad.mit.edu	37	10	134595441	134595441	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr10:134595441A>T	ENST00000368594.3	+	15	1512	c.1235A>T	c.(1234-1236)cAg>cTg	p.Q412L	RP11-288G11.3_ENST00000441365.2_lincRNA	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	412					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inositol-1,3,4,5-tetrakisphosphate 5-phosphatase activity (GO:0052659)|inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|inositol-polyphosphate 5-phosphatase activity (GO:0004445)|PH domain binding (GO:0042731)			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TGTGTCGTGCAGTGACGTGGT	0.527																																					Pancreas(63;823 1267 11107 20380 51626)	ENST00000368594.3																			0				cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(1234-1236)cAg>cTg		inositol polyphosphate-5-phosphatase, 40kDa							134.0	146.0	142.0					10																	134595441		2185	4283	6468	SO:0001583	missense	3632				cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	g.chr10:134595441A>T	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383	3.1.3.56		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""			8013665	Standard	NM_005539		Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.1235A>T	10.37:g.134595441A>T	ENSP00000357583:p.Gln412Leu		Somatic					p.Q412L	NM_005539.3	NP_005530.3	WXS	Illumina GAIIx	Phase_I	Q14642	I5P1_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	15	1512	+		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)	412					D3DXI3|Q14640|Q5JSF1	Missense_Mutation	SNP	ENST00000368594.3	37	c.1235A>T	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300456	0.81136	.	.	ENSG00000068383	ENST00000368594;ENST00000416326;ENST00000432898	T	0.48836	0.8	4.46	4.46	0.54185	.	0.322809	0.25925	N	0.027401	T	0.39572	0.1083	L	0.44542	1.39	0.80722	D	1	B;P	0.37466	0.024;0.596	B;B	0.32864	0.02;0.154	T	0.46665	-0.9175	10	0.87932	D	0	.	14.0663	0.64831	1.0:0.0:0.0:0.0	.	355;412	F5GWM1;Q14642	.;I5P1_HUMAN	L	412;355;329	ENSP00000357583:Q412L	ENSP00000357583:Q412L	Q	+	2	0	INPP5A	134445431	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.359000	0.73060	1.797000	0.52628	0.374000	0.22700	CAG		0.527	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1	NM_005539		41	61	0	0	0	1	0	41	61				
ALKBH7	84266	broad.mit.edu	37	19	6374569	6374569	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:6374569delT	ENST00000245812.3	+	3	860	c.472delT	c.(472-474)ttgfs	p.L159fs	ALKBH7_ENST00000596657.1_Frame_Shift_Del_p.L17fs|ALKBH7_ENST00000599849.1_Frame_Shift_Del_p.L98fs	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	159					cellular response to DNA damage stimulus (GO:0006974)|fatty acid metabolic process (GO:0006631)|regulation of lipid storage (GO:0010883)|regulation of mitochondrial membrane permeability involved in programmed necrotic cell death (GO:1902445)	mitochondrial matrix (GO:0005759)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						GCTGGAACTCTTGCTGGAGCC	0.642																																						ENST00000245812.3																			0				breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(472-474)ttgfs		alkB, alkylation repair homolog 7 (E. coli)							41.0	50.0	47.0					19																	6374569		2203	4300	6503	SO:0001589	frameshift_variant	84266					extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr19:6374569delT	AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652		"""Alkylation repair homologs"""	21306	protein-coding gene	gene with protein product		613305	"""spermatogenesis associated 11"""	SPATA11		12477932	Standard	NM_032306		Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.472delT	19.37:g.6374569delT	ENSP00000245812:p.Leu159fs		Somatic				ALKBH7_ENST00000596657.1_Frame_Shift_Del_p.L17fs|ALKBH7_ENST00000599849.1_Frame_Shift_Del_p.L98fs	p.L159fs	NM_032306.3	NP_115682.1	WXS	Illumina GAIIx	Phase_I	Q9BT30	ALKB7_HUMAN			3	860	+			159					B2R4U9|Q53FF3	Frame_Shift_Del	DEL	ENST00000245812.3	37	c.472delT	CCDS12163.1																																																																																				0.642	ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453036.1	NM_032306		22	16						22	16	---	---	---	---
BCL2L12	83596	broad.mit.edu	37	19	50173670	50173670	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:50173670delG	ENST00000246785.3	+	6	1137	c.879delG	c.(877-879)ctgfs	p.L293fs	BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000441864.2_Frame_Shift_Del_p.L292fs	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	293					inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)		TGGCCGGGCTGGGGGGCACCC	0.751																																						ENST00000246785.3																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8						c.(877-879)ctgfs		BCL2-like 12 (proline rich)			,	46,3752		18,10,1871	4.0	4.0	4.0		,	4.0	0.1	19		4	106,7320		48,10,3655	no	frameshift,frameshift	BCL2L12	NM_138639.1,NM_001040668.1	,	66,20,5526	A1A1,A1R,RR		1.4274,1.2112,1.3542	,	,	50173670	152,11072	2030	3968	5998	SO:0001589	frameshift_variant	83596				apoptosis			g.chr19:50173670delG	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453			13787	protein-coding gene	gene with protein product		610837					Standard	NM_001040668		Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.879delG	19.37:g.50173670delG	ENSP00000246785:p.Leu293fs		Somatic				BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000441864.2_Frame_Shift_Del_p.L292fs	p.L293fs	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	WXS	Illumina GAIIx	Phase_I	Q9HB09	B2L12_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	6	1137	+		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)	293					Q3SY11|Q3SY13|Q96I96|Q9HB08	Frame_Shift_Del	DEL	ENST00000246785.3	37	c.879delG	CCDS12776.1																																																																																				0.751	BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	NM_052842		2	4						2	4	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	0					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)	Somatic						NM_018159.3	NP_060629.2	WXS	Illumina GAIIx	Phase_I	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			3	5						3	5	---	---	---	---
